Woo Flashcards
1
Q
What do osteocytes do? How are they connected to each other?
A
Osteocytes maintain the structure of the mineralised matrix and control short term release and deposition of Ca2+.
They are connected by gap junctions.
2
Q
5 embryological derivatives of neural crest?
A
Adrenal medulla, Schwann cells, pia mater, aorticopulmonary septum, bronchial arches, skull bases, melanocytes
3
Q
5 embryological derivatives of mesoderm?
A
Muscles, Connective tissue, cartilage, spleen, kidneys, adrenal cortex
4
Q
Patient with severe HTN, headaches and an adrenal mass. What is it? What is it derived from? Pre-treatment? With family history?
A
Typical pheochromocytoma
Derived from chromaffin cells on adrenal medulla
Phenoxybenzamine
Multiple Endocrine Neoplasia type 2
5
Q
Multiple Endocrine Neoplasia type 2 associated mutations?
A
RET proto-oncogene germ-line mutations:
Pheochromocytomas
Medullary thyroid cancer (malignant C cells)
Parathyroid hyperplasia (2A)/Mucosal neuromas (2B)
6
Q
What is IL-4 responsible for?
A
B cell growth and isotype switching
Stimulates secretion of IgE and predisposes to type I sensitivity.
7
Q
What produces IL-1? What is the function of IL-1?
A
Produced by macrophages
It activates naive TH0 lymphocytes and promotes their differentiation into TH1 and TH2
8
Q
What is the function of IL-2?
A
Stimulates development of CD4+ T helper cells, CD8+ cytotoxic cells and B cells
Reduces tumour burden due to enhanced activity of NK cells
9
Q
What produces IL-3? What is the function of IL-3?
A
Produced by T-helper cells
Stimulates growth and differentiation of bone marrow stem cells
10
Q
What does activated Calcineurin do?
A
Activated Calcineurin dephosphorylates nuclear factor of activated T cells allowing NFAT to enter the nucleus, bind IL-2 stimulating growth and differentiation of T cells.
11
Q
What drugs inhibit calcineurin activation?
A
Cyclosporine and tacrolimus
12
Q
What is neurofibromin? Chromosome? How does it protect against cancer?
A
Neurofibromin is a TSG protein encoded by NF-1 gene on chromosome 17.
Neurofibromin is a key suppressor of Ras.
13
Q
What are gram-positive rods with tumbling motility at room temperature on CSF microscopy?
A
Listeria monocytogenes - multiplies in cold temperatures
Often occurs in immune-compromised adults
Bacteria can access the bloodstream via contaminated foods such as unpasteurised milk, undercooked meats, unwashed raw vegetables.
14
Q
6-month-old - Delayed developmental milestones and hypotonia
2 years old - Involuntary movements and demonstrates a tendency to aggressively bite his own lip and fingers
What is the condition? Pathophysiology?
A
Lesch-Nyhan syndrome is an X-linked recessive disorder.
Deficiency of hypoxanthine-guanine phosphoribosyltransferase that leads to increased degradation of guanine and hypoxanthine thus increasing phosphoribosyl pyrophosphate amidotransferase enzyme.
15
Q
Thiazide diuretics - mechanism of action?
side effects?
A
Inhibit NaCl transporter in the distal tubule leading to increased excretion of Na + H2O.
Increases distal tubular Ca2+ reabsorption, causing hypercalcemia and hypocalciuria.
Acute kidney injury, hyperuricemia and acute gout, elevated glucose and cholesterol levels
16
Q
Klinefelter syndrome? Major features?
A
Meiotic nondisjunction - 47,XXY
Major features:
Primary testicular failure - small, firm testes and infertility
Testosterone deficiency - eunuchoid body habitus
Tall stature, gynecomastia
Minimal facial and body hair
(Potential mild intellectual disability)
17
Q
A child comes in with orbital hypertelorism, submucous cleft palate and bifid uvula. Additionally found to have right ventricular hypertrophy, pulmonary stenosis with a ventricular septal defect and overriding aorta.
What is the condition?
A
DiGeorge Syndrome
18
Q
DiGeorge Syndrome -
chromosome?
pathophysiology?
Signs?
A
Chromosome 22q11.2 microdeletion
Defective neural crest migration into 3rd and 4th pharyngeal pouches (thymus and parathyroid)
Hypocalcemia/HypoPTH
T cell deficiency (lack of thymus)
Abnormalities of heart great vessels and faces
19
Q
The most common cause of osteomyelitis in sickle cell children?
A
Salmonella then staph aureus and E.coli
20
Q
L.M.W. Heparin - mechanism of action?
A
Bind to antithrombin III causing a conformational change inhibiting factor Xa and promoting anticoagulation
(enoxaparin)
21
Q
Polyuria that resolves with the administration of desmopressin
A
Secondary to deficient vasopressin secretion (central diabetes insipidus)
The rise in urea reabsorption enhances the medullary osmotic gradient allowing the production of maximally produced urine.
22
Q
How long after a vasectomy do patients have viable sperm?
A
Distal vas for 3 months and/or at least 20 ejaculations following
Sexual intercourse can be resumed within a week
23
Q
Loop diuretics - mechanism of action?
Electrolyte abnormalities?
A
Inhibits Na-K-2Cl
Decreased potassium, alkalosis, decreased calcium
24
Q
Thiazide diuretics - mechanism of action?
Electrolyte abnormalities?
A
Inhibits Na-Cl
Decreased sodium, decreased potassium, increased calcium
25
Sodium channel blockers (mineralocorticoids) - mechanism of action?
Electrolyte abnormalities?
Inhibits ENac
| Increased potassium, acidosis
26
Beck's Triad
Jugular venous distension
Hypotension
Diminished heart sounds
27
Causes of cardiac tamponade
Malignancy/radiation therapy
Infection (e.g. viral, TB, HIV)
Drugs - hydralazine, isoniazid
Connective tissue disease (SLE, RA)
28
Diagnosis of Pulsus paradoxus
ECG - low voltage QRS complexes
| CXR - Enlarged water bottle shaped heart, clear lungs
29
Right sided hemianopia with macular sparing - cause?
| Why is the macula spared?
Occlusion of posterior cerebral artery likely due to embolic event (A.Fib)
The macula is spared because collateral blood is supplied by MCA to the occipital pole.
30
A man has been singing loudly and playing the piano "nonstop" all day and night for a month. He claims that he is related to the President and hears voices saying he will be a famous entertainer. He tends to make inappropriate sexual advances and has a history of 9 psychiatric hospitalisations.
He heard voices commenting on his appearance and believes that secret cameras are monitoring him.
What is his condition? and other differentials?
Schizoaffective disorder
>2 weeks of delusions or hallucinations in the absence of prominent mood symptoms
Ddx: Major depressive disorder with psychotic features
Schizophrenia - >6 months requires functional decline
31
DSM V criteria for Schizoaffective disorder
Major depressive or manic episode
Lifetime hx of delusions or hallucinations for > 2 weeks in absence of episode
Mood episodes
Not due to substances
32
Clinical features of paranoid personality disorder
Believes they are being exploited and deceived
Interprets benign comments and events as threats
Bears grudges
Questions loyalty of their partner
33
What is a wide, fixed splitting of the second heart sound (S2)?
ASD and without surgical repair there will be irreversible changes in the pulmonary vessels
34
Hyperkeratotic, hyperpigmented plaques with classic "velvety" texture - condition? cause?
Acanthesis nigricans
| Commonly due to insulin resistance
35
Toxin in certain mushrooms and mechanism of action?
Muscarine
Acts as a muscarinic agonist resulting in increase in parasympathetic nervous system activity
(Peripheral vasodilation, SM relaxation)
36
Patient came in with headache, fever and lethargy. An LP showed low glucose and increased protein. There was a transparent capsule on India Ink with a culture grown on Sabouraud. What is the condition? What is the treatment?
Cryptococcal meningoencephalitis
(Cryptococcal antigen indicated in CSF)
Initial treatment - Amphotericin B and flucytosine
Long term treatment - Fluconazole
37
3 day old has poor feeding, emesis and lethargy over 24 hours. He has been breastfeeding exclusively. Laparotomy shows fibrous bands seen extending from the cecum and right colon to retroperitoneal causing extrinsic compression of the duodenum.
Volvulus - midgut rotation around the superior mesenteric artery
38
Name 3 mitochondrial syndromes
Leber hereditary optic neuropathy --> bilateral vision loss
Myoclonic epilepsy with ragged red fibers (maternal inheritance)
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
39
Treatment for anemia of CKD
Erythropoiesis stimulating agents
Associated with increased risk for thromboembolic events (e.g. vascular graft thrombosis, stroke) due to increased blood viscosity. May also develop HTN.
40
Hemophilia A, an X-linked recessive disorder
| Due to a deficiency in coagulation factor VIII
Patient comes in with easy bruising and excessive bleeding
41
14 month old boy comes to clinic with failure to thrive and developmental delay.
At 12 months he could barely lift his head and can't sit unsupported. He has still not started forming words.
Urine specimens contains large amounts orotic acid crystals.
Condition? Treatment?
Hereditary orotic aciduria occurs due to a defect in uridine 5' monophosphate synthase.
Supplementation with Uridine would be beneficial.
42
DSM V criteria for narcolepsy
| Associated features of narcolepsy
Recurrent lapses into sleep or naps (>=3 times/week for 3 months)
Also >=1 of the following:
Cataplexy - brief loss of muscle tone precipitated by strong emotion
Low CSF levels of hypocretin-1
Shortened REM sleep latency
Associated features:
Hypnagogic or hypnopompic hallucinations
Sleep paralysis
43
11 month old boy brought in with irregular jerking movements. For the last 2 weeks, he looked pale and tired and he has been more fussy and less playful. Physical examination reveals spontaneous bursts of nonrhythmic conjugate eye movements in various directions. He also has myoclonus in his trunk and limbs and palpated a non tender immobile abdominal mass. No hepatosplenomegaly. CBC reveals anemia and urine positive for elevated catecholamine breakdown products.
Condition? Pathogenesis? Diagnostic findings?
Neuroblastoma
Pathogenesis -
Neural crest origin
Adrenal medulla
(Median age <2, periorbital ecchymoses, spinal cord compression from epidural invasion "dumbbell tumour", opsoclonus-myoclonus syndrome)
Diagnostic:
Elevated catecholamine metabolites
Small, round blue cells
N-myc gene amplification
44
Well-demarcated, hyper pigmented scaly rash on the hands, forearms and upper chest.
Condition?
Pathophysiology?
Clinical features?
Pellagra
Niacin deficiency due to lack of precursor vitamin for synthesis of NAD+ coenzyme.
Characterised by Dermatitis, diarrhoea and dementia
45
Young boy comes in with paroxysmal breathlessness and wheezing unrelated to ingestion of aspirin, pulmonary infection, inhalation of irritants, stress and/or exercise.
Condition? Sputum findings?
Extrinsic allergic asthma
Classic sputum findings:
Eosinophils (recruited by IL5 secreted by Th2 helper)
Charcot-Leyden crystals
46
Pathogenesis of Wilson's disease?
Autosomal recessive mutation of ATPTB causing hepatic copper accumulation and leak from damaged hepatocytes causing deposits in tissues.
Can cause cystic degeneration of putamen
47
Diagnosis of Wilson's disease?
Decreased ceruloplasmin and increased urinary copper excretion
Kayser-Fleischer rings
Increased copper content on liver biopsy
Atrophy basal ganglia
48
Treatment of Wilson's disease?
Chelators (D-penicillamine, trientine)
| Zinc (interferes with copper absorption)
49
Silicosis findings and histology? increased risk? pathogenesis?
Calcification of the rim of hilar nodes (eggshell calcification)
Birefringent silica particles surrounded by fibrous tissues
Increased risk of TB
Impairs the macrophage effector arm of cell-mediated immunity
50
Medications that induce gynecomastia?
Estrogens - Direct stimulation of ductal epithelial hyperplasia
Antiandrogens (flutamide, bicolutamide) - Competitive inhibition of testosterone inhibitor
5-alpha reductase inhibitors (finasteride) - decreased conversion of testosterone to DHT
Spironolactone
Ketoconazole
Cimetidine
Bicalutamide
Androgen-anabolic steroids
51
Mechanism of ether?
Ether can inactivate "enveloped" viruses
52
What is alkaptonuria? What causes it? Effect in adult life? Examination findings? Effect on urine?
Autosomal recessive disorder caused by deficiency of homogentistic acid into maleylacetoacetate (tyrosine metabolism)
Severe arthritis in adult life
Blue-black deposits in sclerae and ear cartilage
Turns black
53
What is flecainide? Mechanism? Where is it used?
Class IC anti-arrhythmic
Bind to fast Na+ channels (phase 0), prolonging QRS duration
Typically used to treat SVTs such as those caused by AF
54
Non lactose-fermenting, oxidase negative, motile gram-negative organism with capsule. Condition?
Salmonella
| Vi antigen that protects it from opsonization and phagocytosis
55
Antibiotics effective against pseudomonas aeruginosa
Piperacillin, ceftazidime, cefepime, gentamicin, ciprofloxacin, aztreonam, imipenem
56
28-year old woman gravida 3 para 3, severe left lower quadrant pain and vaginal bleeding. She has been permanently sterilised. Pregnancy test was positive and USS shows mass in the left adnexa adjacent to the ovary. Condition?
Uterine cutterage findings?
Ectopic pregnancy - fertilised ovum implants outside the uterus. (common side is ampulla of fallopian tube)
Dilated coiled endometrial glands and vascularised edematous stroma
57
60-year old woman gravida 3 para 3, severe left lower quadrant pain and vaginal bleeding. Condition?
Uterine cutterage findings?
Endometrial adenocarcinoma
Atypical endometrial cells, disorganised glands and multiple mitoses
58
Name 3 segmented viruses that can undergo reassortment
Rotavirus
Influenza A
Orthomyxovirus
59
What is negative predictive value? How do you calculate it?
The probability that a patient truly doesn't have a disease when the patient receives a negative test result.
Number of true negatives/total number of negative tests
60
How to calculate absolute risk reductions?
ARR = Event rate (control) - Event rate (treatment)
61
What does bicuspid valve increase the risk of in the future?
Aortic stenosis in his 50s
62
Cause of epidural haemorrhage? Presentation? CT scan?
Rupture of middle meningeal artery
Lucid interval followed by LOC
Biconvex hematoma
63
Cause of subdural hematoma? Presentation? CT scan?
Rupture of cortical bridging veins (Result of acceleration-deceleration injury)
Gradually worsening headache and slow decline in mental function
Crescent-shaped mass
64
```
22 year woman due to a 5-day history of nausea, constipation, and severe, poorly localised abdominal pain. She also has anxiety, difficulty concentrating, poor sleep quality and tingling of the limbs. She has also been restricting her diet to lose weight.
Condition?
Expression?
Pathogenesis?
Treatment?
```
Acute intermittent prophyria
Autosomal dominant
Prophobilinogen deaminase deficiency
Treatment:
Infusion with heme, which down regulates hepatic aminolevulinate
65
5 common CGD infection organisms?
```
Catalase positive bacteria and fungi:
Staphyloccocus aureus
Pseudomonas cepacia*
Serratia marcescens
Nocardia
Aspergillus
```
66
```
7 year old boy has recurrent granulomatous skin infections and a prior episode of Aspergillus pneumonia. He has come to get a liver abscess drained.
Condition?
Pathogenesis?
Diagnosis?
Susceptible infections?
```
Chronic Granulomatous Disease
Inactivating mutation affecting NADPH oxidase leads to impaired respiratory burst inhibits phagocytic intracellular killing
Measurement of neutrophil superoxide production:
DHR flow cytometry
Nitroblue tetrazolium testing - neutrophils DON'T turn blue
Catalase-positive
67
In atrial fibrillation, what is the most likely source of a thrombus in a thromboembolic event?
Left atrial appendage
68
22-year old student currently on bupropion says she still feels really down at times and has a very poor appetite (a pattern that preceded the medication).
Bupropion - mechanism of action? Contraindications?
What is the risk of increasing her bupropion dose?
Inhibits the reuptake of norepinephrine and dopamine.
Contraindicated in seizure disorders or patients with (or who have had) bulimia or anorexia nervosa
Seizures
69
26 year old woman came in due to acute onset diplopia. Significant hx for episodes of blurry vision in her right eye (deficits in colour vision and pain was worse with eye movement). Neurological exam revealed a mild right optic disk atrophy and a relative afferent of the left eye with right lateral gaze. Normal convergence in both eyes.
Condition? Indications? Mechanism causing diplopia?
Lhermitte sign?
Uhthoff phenomenon?
Multiple Sclerosis - autoimmune response directed at oligodendrocytes
Her diplopia and internuclear ophthalmoplegia along with her prior episodes of optic neuritis indicate her MS.
HLA-DRB1
ReduceHLd saltatory conduction
Electrical sensation in limbs or back
Symptom worsening with increasing temperature
70
72 year old woman with difficulty hearing. Her medical problems include HTN, heart failure and CKD. Examination shows moderate bilateral sensorineural hearing loss.
What medications may have contributed to this patients hearing impairment? Mechanism of the drug? Side effects?
Furosemide
Inhibit the Na/K/2Cl symporters in the ascending loop of Henle
Hypokalaemia, hypomagnesemia and hypocalcaemia
This is a risk in loop diuretics at higher doses in patients or patients with pre-existing chronic renal disease.
(Usually reversible)
71
Digoxin toxicity
Used in heart failure patients due to systolic dysfunction - slows ventricular rate during AF priimarily by increasing parasympathetic tone
Cardiac arrhythmias, hyperkalemia, nausea, vomiting, confusing
Renally cleared
72
Hydrochlorothiazide - when is it used? side effects?
Used for treating HTN
| Hypokalaemia, hyponatremia, hypomagnesemia and hypercalcemia
73
Ramipril - Mechanism of action? When is it used? Side effects?
ACE inhibitor that is used in HTN and beneficial in heart failure
Side effects include cough, hyperkalemia (less frequently - angioedema and anaphylactoid reactions)
74
Carvedilol - What is it? Side effects?
B blocker with alpha blocking activity.
| Side effects include bradycardia, hypoglycaemia and fatigue.
75
Blood gas for chronic obstructive bronchitis
Long standing retention of CO2 - renal compensation and an increase in serum HCO3
ph - acidotic
CO2 - high
HCO3 - high
76
Blood gas for DKA
Decrease in HCO3 to neutralise
ph - acidotic
CO2 - low (hyperventilation/Kussmaul breathing)
HCO3 - low
77
Blood gas for diuretic overuse
Loss of hydrogen leads to alkalosis
ph - alkalosis
CO2 - high
HCO3 - high
78
Blood gas for heroin overdose
Hypoventilation leads to increase CO2
decrease ph
normal to mildly high HCO3
79
Blood gas for panic attack
Hyperventilation leads to respiratory alkalosis
ph - alkalosis
CO2 - low
HCO3 - slightly low
80
Diagnosis of Major depressive disorder
```
>=5 of the following lasting >=2 weeks:
Depressed mood
Loss of interest or pleasure
Change in appetite or weight
Insomnia or hypersomnia
Psychomotor retardation or agitation
Low energy
Poor concentration or indecisiveness
Thoughts of worthlessness
Recurrent thoughts of death or suicide
```
No hx of mania or hypomania
Not due to substances
81
Latissimus dorsi -
Innervations?
Primary functions?
Thoracodorsal nerves
| Extension, adduction and internal rotation of humerus
82
Deltoid -
Innervation?
Primary functions?
Axillary nerve
| Abduction of the arm (it can be injured during sudden or forceful loading of the arms)
83
Infraspinatus -
Innervation?
Primary function?
Suprascapular nerve
| External rotation of the arm
84
Trapezius -
Innervation?
Primary function?
Accessory nerve
| Elevate, rotate and stabilise the scapula (injured in whiplash)
85
Triceps -
Innervation?
Primary function?
Radial nerve
| Extension of the elbow
86
Thiazolidinediones -
mechanism of action?
effect?
Activate peroxisome-proliferator activated receptor-y (alters transcription of genes)
Decreased insulin resistance
87
What is responsible for the green color of pus and sputum in bacterial infections?
Neutrophil myeloperoxidase
88
```
Etanercept -
Type of drug?
When is it used?
Mechanism?
Effect?
```
Tumour necrosis factor-alpha inhibitor
Added to methotrexate to treat moderate to severe RA
Fusion protein linking a soluble TNF-alpha receptor to the FC component of IgG1
Reduces the biological activity of TNF-alpha
89
Rituximab -
Type of drug?
Mechanism?
Used for?
Chimeric monoclonal antibody
Targets CD20 on the surface of B cells
Used to treat CD20+ non-Hodgkin's lymphoma
90
Infliximab -
Type of drug?
Used for?
Chimeric monoclonal antibody targeted against TNF-a
| Treatment of a number of an autoimmune diseases (RA and Crohn's)
91
Certolizumab -
Type of drug?
Used for?
Pegylated humanised monoclonal antibody that targets TNF-a
It lacks Fc region
Used to treat autoimmune diseases
92
Imatinib -
Type of drug?
Used for?
Mesylate
Used to treat specific cancers such as Philadelphia chromosome-positive chronic myelogenous leukemia and kit-positive gastrointestinal stromal tumours
93
Malabsorption by coeliac disease - Vit D deficiency
| Levels of serum calcium, serum phosphrus and serum PTH
Calcium - low
Phosphorus - low
PTH - high
94
Primary hyperPTH levels of:
| serum calcium, serum phosphorus and serum PTH
Calcium - high
Phosphorus - low
PTH - high
95
HypoPTH levels of:
| serum calcium, serum phosphorus and serum PTH
Calcium - low
Phosphorus - high
PTH - low
96
CKD levels of:
| serum calcium, serum phosphorus and serum PTH
Calcium - low/normal
Phosphorus - high
PTH - high
97
```
Clostridium difficile colitis:
Risk factors
Pathogenesis
Clinical presentation
Diagnosis
Treatment
```
Recent abx, hospitalisation, PPI
Disruption of intestinal flora -> C diff overgrowth
Exotoxin cause mucosal inflammation/injury
Cytotoxin B induces the actin depolymerization leading to mucosal cell death, necrosis and pseudomembrane formation
Watery diarrhea, fulminant colitis/toxic megacolon
Stool PCR
Oral metronidazole or vancomycin
98
Candida -
Morphology?
Clinical syndromes?
Pseudohyphae with blastoconidia
Wide range of infections
99
Blastomyces -
Morphology?
Clinical syndrome?
Yeast with distinctive broad-based budding
Inhaled, can disseminate to skin and bone
100
Coccidioides -
Morphology?
Clinical syndrome?
Spherules with endospores
Transient pulmonary syndrome can process to meninges and bone (southwestern US - central california, arizona, new mexico and western texas))
101
Cryptococcus -
Morphology?
Mucicarmine stain?
Clinical syndrome?
Capsule (India ink stain)
Appears red
Meningitis among immunocompromised patients (advanced AIDS)
102
Histoplasma -
Morphology?
Clinical syndrome?
Small oval yeast with macrophages
Subclinical and can become invasive in immunocompromised patients (Mississippi and Ohio river valley)
Soil contaminated by bird or bat droppings
103
Facial pain, headache and black necrotic nasal eschae in DKA patient.
Condition?
Histology?
Treatment? Side effect?
Mucormycosis
Broad ribbon-like nonseptate hyphae with right-angle branching
Amphotericin B - binds ergosterol to form holes leading to cell death
Renal toxicity - check serum potassium and magnesium
104
Where is the most highly oxygenated blood in the fetus?
Umbilical vein that empties directly into the inferior vena cava via ductus venosus
105
ACE inhibitors -
Mechanism?
Used for?
Side effects?
Prevents the conversion of Ang I to Ang II.
Used for HTN, heart failure and renal failure
Hyperkalemia and cough
106
```
Metoprolol -
Type of drug?
Mechanism?
Used for?
Side effects?
```
Beta-blocker
Act upon the beta-1 receptors of juxtagolmerular cells to reduce renin secretion
Acute myocardial infarction
Bradycardia and erectile dysfunction
107
28 year old man with 2 month hx of dull low back pain and morning stiffness. No trauma and patient now must lie on his side to sleep. Physical exam shows limited anterior flexion of the spine. X-rays show narrowing of the sacroiliac joints.
Condition?
Epidemiology?
X-ray examination?
Test results?
Ankylosing spondylitis
Chronic inflammatory disorder of the sacroiliac joints and axial skeleton. Destruction of articular cartilage with resulting stiffness and fusion of axial joints.
Limited chest expansion and spinal mobility
Young and middle-aged men
X-rays show erosions, sclerosis, narrowing and fusion of the joint spaces. (bamboo spine)
108
Seronegative spondyloarthropathies?
| Risk factors?
Ankylosing spondylitis
Reactive arthritis
Psoriatic arthritis
Arthritis associated with IBD
Higher incidence of the human leukocyte antigen B27
109
Formula for volume of distribution
Vd (L) = amount of drug given (mg)/ plasma conc of drug
110
Obstructive lung disease:
FEV1
FEV1/FVC
FVC
Decreased
Decreased
Normal to decreased
111
Restrictive lung disease (including obesity):
FEV1
FEV1/FVC
FVC
Decreased
Normal to increased
Decreased
112
Greek immigrant infant develops transfusion-dependent hemolytic anemia by the age of 6 months. His erythrocytes contains insoluble aggregates of hemoglobin subunits.
Condition?
Why was he normal in utero?
Patients with homozygotic B-thalassemia are asymptomatic at birth.
HbF contains y-globin instead B-globin. Switching to HbA production and the cessation of y-globin synthesis.
113
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Several residents of a long-term care facility develop febrile illness. Symptoms include fever, nonproductive cough, myalgia, rigors, dyspnea and diarrhoea. Organisms are visualised easily on silver stain.
Condition?
What is the source of the outbreak?
Lab findings?
Diagnosis?
```
Legionella pneumonia
Recent travel
Water supply in hospital/nursing home stay
Hyponatremia (due to the diarrhea)
Sputum gram stain (many neutrophils but few or no organisms)
Culture of organism on BCYE
Legionella urine antigen test
114
What chromosomal change are cri-du-chat syndrome (5p), DiGeorge syndrome (22q11) and Prader-Willi syndrome (15q) associated with?
Chromosomal deletions
115
What chromosomal change occurs to cause conditions such as Prader-Willi and Angelman syndrome?
Imprinting
116
What chromosomal change occurs to cause disorders such as Huntington's, myotonic dystrophy and fragile X syndrome?
Trinucleotide repeat expansions
| Anticipation
117
What can cause Wernicke encephalopathy is administered to thiamine-deficient patients?
Glucose (due to increased thiamine demand)
118
What enzymes in the citric acid cycle require thiamine as a cofactor?
Pyruvate dehydrogenase
| Alpha-ketoglutarate dehydrogenase
119
Within the first week of primary TB infection what infectious process occurs?
Intracellular bacterial proliferation
120
What is a facultative intracellular acid-fast bacillus that is transmitted via aerosolized droplet nuclei?
Mycobacterium TB
121
After a few weeks of primary TB infection what infectious process occurs?
CD4 lymphocytes are stimulated to release interferon-gamma which activated macrophages and leads to control on infection
122
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13 month old boy brought in due to cough and increased work of breathing. He is tachypneic and has perioral cyanosis. CXR shows bilateral interstitial opacities. Previos medical hx shows recurrent hx of otitis media, pneumonia and thrush along with chronic diarrhoea and failure to thrive.
Condition?
Etiology?
Inheritance?
Second most common cause?
Treatment?
```
Severe combined immunodeficiency
```
Cytokine receptor defects
Gene defect leading to failure of T cell development
B cell dysfunction due to absent T cells
MHC class II deficiency
```
X-linked recessive
Autosomal recessive
*Adenosine deaminase deficiency (Treat - bone marrow transplantation but retroviral gene therapy is promising)
Sterile isolation
Stem cell treatment
123
What does western blotting identify?
Proteins
124
What does northern blotting identify?
Specific RNA sequences
125
What does southern blotting identify?
DNA sequences in unknown samples
126
What does southwestern blotting analyse?
DNA-binding proteins (bind specific olignucleotide probes)
127
15 year old boy being evaluated for poor exercise endurance. Tried weightlifting but his arms feel like jelly after a few repetitions. He also experiences severe muscle cramping and urine discolouration after intense straining. His tolerance is greatly improved if he drinks an oral glucose solution before hand.
Condition?
Which enzyme is deficient?
```
McArdle disease (glycogen storage disease type V)
Deficiency in myophosphorylase (isoenzyme of glycogen phosphorylase in muscle tissue)
```
128
What forms the blood brain barrier?
Tight junctions between nonfenestrated capillary endothelial cells.
129
What causes spinal muscular atrophy? Effect on infants?
Mutations in the SMN1 gene resulting in impaired assembly of snRNPs in lower motor neurons.
Infants often have flaccid paralysis due to degeneration of anterior horn cells in spinal cord.
130
Insulin-like growth factor-1 -
Where is it produced?
Function?
Produced in the liver in response to growth hormone
| Functions as a mitogen and as an inhibitor of apoptosis
131
Somatostatin -
Where is produced?
Function?
Produced in the stomach, small bowel and pancreas
| Inhibits the production and release of other GI hormones ie insulin.
132
Secretin -
Where is produced?
Function?
Produced in the duodenum in response to luminal acidity.
Stimulates the release of bicarb-rich secretions from the pancreas, gallbladder and duodenum. (also increases activity of CCK)
133
Cholecystokinin -
Where is produced?
Function?
Produced in the duodenum in response to fatty or protein rich meal.
Inhibits further gastric emptying, stimulation of pancreatic enzyme secretion and stimulation of bile production and gall bladder contraction
134
Glucagon like peptide 1 -
| Where and why is produced?
Produced by the gut mucosa that stimulates insulin secretion in response to sugar containing meals
135
Where does majority of water reabsorption occur in the nephron?
Proximal tubule
136
5-year old boy being evaluated for cyanosis with minimal exertion. He has episodes where he turns blue that began in infancy and have gotten progressively worse. The boy squats during these episodes and says it makes him feel better. Family recently immigrated to the US. Examination reveals prominent ventricular impulse and harsh systolic murmur.
Condition?
Characterised by?
Tetralogy of Fallot
1) Ventricular septal defect
2) Overriding aorta over the right and left ventricles
3) Right ventricular outflow tract obstruction
4) Right ventricular hypertrophy
137
Number needed to treat definition
NNT=1/absolute risk increase
138
35 year old man comes into the office due to problems with irritability, anxiety and low self-esteem. He was recently fired due to poor work performance at his data entry job. His girlfriend has threatened to break up with him because he is always late and very forgetful. His problems are longstanding and date back to childhood issues in school. He frequently feels overwhelmed due to being disorganised. He procrastinates, is easily bored at work and jumps to another project before completing the one he is working on. He drinks 3-4 beers a week and smokes week twice a month. MSE reveals he he is talkative but appears tense, restless and easily distractible.
Condition?
Treatment?
Key transmitters?
Attention-deficit hyperactivity disorder
Stimulants (methylphenidate, amphetamines)
Behavioural therapy
Increased availability of norepinephrine and dopamine
139
Narcolepsy -
Definition?
DSM 5 criteria?
Recurrent lapses into sleep or napping multiple times within the same day, occurring at 3 times weekly for 3 months
At least 1:
Cataplexy - conscious, brief episodes of sudden bilateral muscle tone loss precipitated by emotions such as laughter or joking
Hypocretin-1 deficiency by CSF analysis
Rapid eye movement sleep latency < 15 minutes
140
Familial chylomicronemia syndrome Type I -
Protein defect?
Elevated lipoproteins?
Manifestations?
Lipoprotein lipase + ApoC-II
Chylomicrons
Acute pancreatitis
Lipemia retinalis
Eruptive skin xanthomas
Hepatosplenomegaly
141
Familial hypercholesterolemia Type IIA -
Protein defect?
Elevated lipoproteins?
Manifestations?
LDL receptor + ApoB-100
LDL
Premature coronary artery disease
Corneal arcus
Tendon xanthomas
Xanthelasmas
142
Familial dysbetalipoproteinemia Type III -
Protein defect?
Elevated lipoproteins?
Manifestations?
ApoE
Chylomicrons and VLDL remnants
Premature coronary artery disease & peripheral vascular disease
Tuboeruptive and palmar xanthomas
143
Familial hypertriglyceridemia Type IV -
Protein defect?
Elevated lipoproteins?
Manifestations?
ApoA-V
VLDL
Increased pancreatitis risk
Associated with obesity & insulin resistance
144
Trauma/sustained pressure to the neck of the fibula -
What nerve will be injured?
Effect?
Common peroneal nerve
Weakness on foot dorsiflexion and eversion and impaired sensation over the lateral shin and dorsal foot and between first and second toes
145
Anterior compartment syndrome -
What nerve will be injured?
Effect?
Deep branch of the peroneal nerve
Impaired foot dorsiflexion and sensory loss between the first and second toes
146
Lateral compartment syndrome -
What nerve would be injured?
Effect?
Superficial branch of the peroneal nerve
Impaired foot eversion and sensory loss over the lateral shin and dorsum of the foot
147
Popliteal fossa injury -
Nerve damage?
Effect?
Tibial nerve
Weakness on foot plantarflexion
Foot inversion
Toe flexion
148
Causes of acquired QT prolongation
Electrolyte imbalances:
Hypokalemia
Hypomagnesemia
Medications:
Class IA and III antiarrhythmics (quinidine, sotalol)
Antibiotics (macrolides, fluoroquinolones)
Methadone
Antipsychotics (haloperidol)
149
Sotalol -
What is it?
What is it used for?
Class III antiarrhythmic agent (K+ channel blocking)
| Treat AF
150
20 year old man comes into the office for evaluation of a hand injury. He said a dog bit him. He recently started operating a dog fighting club and claims he is richer than a doctor. He has been fire repeatedly most recently due to getting into arguments and being consistently. He said that it was their fault and he could care less. During middle school, he spent time in juvie for tampering with a teachers brakes after failing a class.
Condition?
Differentials?
Antisocial personality disorder
Borderline personality disorder - exploitative behaviours related to abandonment fears
Conduct disorder - pattern of violating societal norms and rights of others (has to be under 18)
Narcissistic personality disorder - no pattern of violence or criminal activity
151
23 year old female immigrant from Cambodia with exertional dyspnea. Occasional dry cough, no chest pain, palpations or syncope. She had bilateral knee swelling as a child. On examination, a blowing, holosystolic murmur is heard over the cardiac apex.
Condition?
Type of murmur?
Rheumatic heart disease
Mitral regurgitation
152
Treatment of malaria?
Atovaquone and proguanil
153
Apart from brachial plexus, what other nerve is anaesthetised in inter scalene nerve block?
Phrenic nerve
| Transient ipsolateral diaphragmatic paralysis
154
What is biggest risk factor to trigger spontaneous gas gangrene?
Colonic malignancy - creates portal of entry for bacteria
155
Spore-forming, exotoxin producing, gram positive organism.
Clostridium septicum
| Most common cause for spontaneous gas gangrene
156
```
43 year old with advanced HIV is hospitalised with recent-onset headaches and personality changes. CT shows solitary mass within the temporal lobe. Biopsy reveals uniform cells Epstein-Barr virus genome.
Condition?
Epidemiology?
B cell markers?
Prognosis?
```
Primary CNS lymphoma
Most frequent CNS tumor in immunosuppressed patients
CD20 and CD79a
Poor prognosis
157
48 year old woman says her legs are like sticks while her belly is getting bigger. She is increasingly fatigued and has been living a residential care home facility for the last 12 months. She was diagnosed with HIV 2 years ago.
What drug is responsible for her body changes?
HAART medication
158
HMG-CoA reductase inhibitors (statins) -
Effect
Side effects
Lower LDL cholesterol
Myalgias and an increase in hepatic transaminase levels
159
Thiazide diuretics (chlorthalidone, hydrochlorothiazide) side effects
Hyperglycemia
| Hypertriglyceridemia
160
45 year old man comes in for fatigue. Works in construction.
He has been unable to climb past the second floor of the building his company is renovating. He also is unable to do minor activities such as lifting his toolbox out of his car. He has been constipated and has decreased constipation. Physical examination shows an overweight male with conjunctival pallor and blue gums.
Condition?
Risk factors?
Lab findings?
Complications?
Lead poisoning
Occupational exposure (lead paint, batteries, ammunition, construction)
Anemia
Elevated venous lead level
Elevated serum zinc protoporphyrin
Basophilic stippling on peripheral smear
```
Encephalopathy
Abdo pain
Decreased Vit D metabolism
Interstitial nephritis
Anemia - due to inhibition of ferrochelatase and O-aminolevulinic acid dehydratase
```
161
```
Puffer fish -
Toxin?
Effect on action potential?
Symptoms?
Treatment?
```
Tetrodotoxin
Binds to voltage-gated sodium channels preventing sodium influx and depolarisation
Dizziness, weakness, loss of reflexes, paresthiasias of the face, nausea, vomiting and diarrhoea
Intestinal decontamination with gut lavage and charcoal
162
9 month old girl is at ED after a 2 minute generalised seizure. She has had a fever for the past 12 hours and has been very fussy. She takes no medications and has no allergies. Her temperature is 39.4
Examination shows no abnormalities and she is discharged
3 days later she is afebrile but develops a maculopapular rash on her trunk.
Condition?
Infectious cause?
Treatment?
Roseola infantum
HHV-6
(Under age 2)
Supportive care (the infection is self limiting)
163
Tricyclic antidepressant overdose clinical features:
CNS
CVS
Anticholinergic
Mental state changes (drowsiness, delirium, coma)
Seizures, respiratory depression
Sinus tachycardia, hypotension
Prolonged PR/QRS/QT intervals
Arrhythmias (VT and fibrillation)
Dry mouth, blurred vision, dilated pupils
Urinary retention, flushing, hyperthermia
164
Sodium bicarbonate -
What is it used to treat?
What does it do?
Cardiac toxicity
Increases serum pH and extracellular sodium
165
Formula for PPV
PPV = TP/(TP+FP)
166
Formula for NPV
NPV = TN/(TN+FN)
167
How do you reverse methotrexate toxicity in non cancerous cells?
What drug has the same intracelluar target as methotrexate?
Folinic acid (leucovorin)
trimethoprim
168
```
Hemochromatosis -
What is it?
Mutation?
How does iron accumulate?
Signs and symptoms?
Why do women present later?
```
Body absorbs excess iron
HFE protein
Detect falsely low levels that causes:
Enterocytes respond by increasing expression of divalent metal transporter 1, increasing iron absorption from the intestinal lumen.
Hepatocytes decrease hepcidin synthesis increasing ferroportin expression on the basolateral surface of enterocytes
Skin pigmentation, hepatomegaly, impaired glucose homeostasis, cardiac dysfunction, atypical arthritis, hypogonadism
Women present later due to premenopausal bleeding and pregnancy (they have protective effects)
169
Thickened bronchial walls, lymphocytic infiltration, mucous gland enlargement and patchy squamous metaplasia.
Leading cause?
Chronic bronchitis
Tobacco smoking leading cause of chronic bronchitis
170
4 day old girl has become too sleepy to feed and vomits. 2 normal siblings and a brother who does in infancy due to low blood sugar. P on AVPU. Urine testing reveals high levels of methylmalonic acid.
Condition?
Inheritance?
Why?
Lab testing?
Methylmalonic acidemia
Autosomal recessive
Due to complete or partial deficiency of enzyme methymalonyl-CoA mutase
Hyperammonemia, ketotic hypoglycemia and metabolic acidosis
171
Yeast with thick polysaccharide capsule that causes opportunistic infections in immunosuppressed patients especially in AIDS.
Condition?
Where is found?
Where does it establish primary infection?
Stain?
Treatment?
Cryptococcus neoformans
Bird droppings
Lungs
India ink stain
Amphotericin B and flucytosine
Fluconazole
172
```
43 year old woman has amenorrhea. They have been irregular for 2 years and LMP was 9 months ago. Lab results show an increase in serum prolactin level, a normal TSH level and an undetectable B-hCG conc. MRI reveals 6mm pituitary adenoma.
Condition?
Other symptoms?
In men?
Treatment?
Untreated risk?
```
Prolactinoma
Galactorrhea, estrogen deficiency (oligo/amenorrhea, decreased bone density, vaginal atrophy)
Infertility, decreased libido, impotence, gynecomastia
```
Dopamine agonist (cabergoline, bromocriptine)
Trans-sphenoidal
```
Loss of bone mass - hyperprolactinemia suppresses secretion of GnRH which leads to reduced estrogen.
173
Methemoglobinemia -
| Effect on skin?
Dusky discolouration of the skin
| Blood partial pressure of oxygen
174
Anthracyclines -
Mechanism of action?
Toxicity?
Binds with topoisomerase II to cleave DNA
Binds with iron to generate free radicals
Dilated cardiomyopathy
175
Bleomycin -
Mechanism of action?
Toxicity?
Induces free radical formation
Pulmonary fibrosis
176
Cisplatin -
Mechanism of action?
Toxicity?
Cross-links DNA to inhibit DNA synthesis
Nephrotoxicity
Ototoxicity
Peripheral neuropathy
177
Cyclophosphamide -
Mechanism of action?
Toxicity?
Cross links DNA to inhibit DNA synthesis
Hemorrhagic cystitis
Bladder cancer
178
Paclitaxel -
Mechanism of action?
Toxicity?
Inhibits microtubule disassembly
Neuropathy
179
Vincristine/Vinblastine -
Mechanism of action?
Toxicity?
Binds beta-tubulin to inhibit microtubule formation - M phase of the cell cycle
Neuropathy - finger numbness and tingling
180
A nuclear waste disposal plant suffers a containment failure and several grams of iodine-131 are released. A number of workers are believed to be exposed to dangerous levels. What should be immediately administered to help prevent tissue damage?
Potassium iodide
Prevent development of radiation-induced thyroid carcinoma
181
Polycystic ovary syndrome -
Clinical features?
Treatment?
Hormonal abnormalities?
Fertility?
Androgen excess: hirsutism, acne, androgenic alopecia
Ovarian dysfunction: menstrual irregularity, PCOS
Insulin resistance: acanthosis nigricans, glucose intolerance/diabetes, metabolic syndrome
Obesity
Weight loss
Combination hormonal contraceptives
Metformin (if hyperglycemia/diabetes)
LH levels are elevated
Clomiphene - selective estrogen receptor modulator that prevents negative feedback inhibition of hypothalamus and pituitary
182
Vitamin E -
Function?
Effect of deficiency?
Clinical manifestations?
Protects fatty acids from oxidation
Deficiency predisposes cell membranes to oxidative injury
Neuromuscular disease - ataxia, impaired proprioception and vibratory sensation (skeletal myopathy, spinocerebellar ataxia, polyneuropathy) and hemolytic anemia
Associated with loss of proprioception and vibratory sense
183
Vitamin A deficiency -
Causes?
manifestation
Isufficient dietary intake, pancreatic insufficiency, cholestatic liver disease/biliary obstruction, intestinal malabsorption
Night blindness, dry eyes (xerophthalmia) and corneal softening (keratomalacia), growth retardation
184
Fetus develops severe anemia, heart failure, pleural effusions, pericardia effusions and ascites.
Organism?
Pathogenesis?
Parvovirus B19 - non enveloped single-stranded DNA virus
Temporarily halts EPO
Significant anemia in marrow stress (treatment is supportive)
185
5 year old girl is brought to the office by her mother because she is concerned that her daughter "sunburns too easily." The patient's skin becomes red and scaly with only minimal sun exposure. She first noticed the problem when her daughter was 7 months old during a trip to the beach. Her mother has avoided exposing her child to excess sunlight but is having a harder time doing that now. Physical exam shows thin and hyper pigmented skin. She also had a few nevi on her hands that have been enlarging.
Condition?
Inheritance?
Pathophysiology?
Xeroderma pigmentosum
A rare autosomal recessive disorder
Due to defective nucleotide excision repair of DNA damaged by UV light.
This leads to accumulation of abnormal pyrimidine nucleotides and other carcinogenic adducts.
186
Buprenorphine -
| What is it?
Partial opioid agonist with high affinity and can prevent binding of other opioid medications.
Can precipitate withdrawal in opioid-tolerant patients
187
Losartan -
Type of drug?
Mechanism of action?
Levels of renin, ang I, ang II, aldosterone, bradykinin?
Angiotensin II receptor blockers
Competitively bind to Ang II receptors and block the effects on Ang II. This results in vascular smooth muscle relaxation and decreased aldosterone secretion.
This reduced BP. Because ACE function remains intact, the bradykinin levels are not significantly affected.
```
Renin - high
Ang I - high
Ang II - high
Aldosterone - low
Bradykinin - no change
```
188
Propranolol -
Type of drug?
Mechanism of action?
Levels of renin, ang I, ang II, aldosterone, bradykinin?
B1 adrenergic blockers
Inhibits release of renin from juxtaglomerular apparatus and thereby suppressing the entire renin-angiotensin cascade
```
Renin - low
Ang I - low
Ang II - low
Aldosterone - low
Bradykinin - no change
```
189
Aliskiren -
Type of drug?
Mechanism of action?
Levels of renin, ang I, ang II, aldosterone, bradykinin?
Direct renin inhibitors
Reduce plasma renin activity
```
Renin - high
Ang I - low
Ang II - low
Aldosterone - low
Bradykinin - no change
```
190
Spironolactone -
Type of drug?
Mechanism of action?
Levels of renin, ang I, ang II, aldosterone, bradykinin?
Mineralocorticoid receptor antagonist
Block aldosterone activity by binding to the mineralocorticoid receptor
```
Renin - high
Ang I - high
Ang II - high
Aldosterone - high
Bradykinin - high
```
191
22 year old woman comes to ED with dysuria, vulvar pain and itching. She has felt feverish and fatigued. She has a new sexual partner and has been using a hormonal vaginal ring to prevent pregnancy. The patient had chlamydia 3 years ago and was treated with Abx. Physical examination reveals inguinal lymphadenopathy and tender vesicular lesions covering both labia majora and the perineum.
Condition?
Etiology?
Treatment?
Genital herpes
HSV-2 most common
Acyclovir, famciclovir or valacyclovir
192
Low hemoglobin, low MCV -
| Ddx?
Iron deficiency
Lead intoxication
Thalassemia
Sideroblastic anemia
193
Low hemoglobin, high MCV -
| Ddx?
B12 deficiency
| Folate deficiency
194
Low hemoglobin, normal MCV, decreased reticulocyte count?
Leukemia
Aplastic anemia
Anemia of chronic disease
195
Low hemoglobin, normal MCV, increased reticulocyte count?
Hemorrhage
```
Hemolysis:
Spherocytosis
G6PD deficiency
Autoimmune
Microangiopathic
```
196
```
Iron deficiency in secondary to menstrual blood loss -
Serum ferritin?
Circulating transferrin?
Total iron-binding capacity?
RBC?
```
Low
High
High
Microcytic, hypochronic RBCs
197
```
34 year old man comes in with heart palpitations particularly prominent at night. With moderate exertion he also experiences head-pounding and involuntary head-bobbing. He recently emigrated from southeast asia and remembered being recently diagnosed with a heart murmur but doesn't know anything else about it. He doesn't smoke drink or do drugs. He had a widened pulse pressure and and pistol-shot femoral pulses. His father has coronary artery disease and his mother has type 2 diabetes.
Condition?
Common etiologies?
Pathophysiology?
Murmur?
```
Chronic aortic regurgitation
Congenital bicuspid aortic valve
Post inflammatory (eg.rheumatic heart disease, endocarditis)
Aortic root dilation (eg.Marfan syndrome, syphilis)
Backflow from aorta into LV --> increased LV end-diastolic volume
LV initially compensates with eccentric hypertrophy causing increasing SV and CO
Eventual LV dysfunction leads to decreased SV and CO leading to heart failure
Diastolic decrescendo murmur
198
43 year old man comes in with jaundice. No fever, no abdominal pain and no travel. Has experienced increased shortness of breath with exercise over the past few months. He has no other medical conditions. He drinks 1 or 2 glasses of wine on social occasions but doesn't drink or smoke. His father died due to liver cirrhosis due to alcohol intoxication. On physical examination expiration is prolonged and there are scattered bilateral wheezes. Lab results show total bilirubin 4.1mg/dL and ALT of 90U/L. Viral hepatitis screen is negative. CXR shows hyper lucency of lung fields and flattening of the diaphragm. Abdominal USS reveals increased liver span and echogenicity of the liver parenchyma but no masses.
Condition?
Effect on lung?
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin is a serine protease inhibitor that regulates the activity of elastase in the lung.
Leads to alveolar destruction and panacinar emphysema. Additionally, accumulation of improperly folded AAT proteins in hepatocytes can lead to liver dysfunction and cirrhosis in some patients.
199
1 month old boy comes to ED during winter with cough and difficulty breathing. He has had rhinorrhea and congestion for the past 2 days along with low grade temperature. His GP said to stay home and just provide supportive treatment. Today the infant was breathing harder and faster than usual. His temp 37.8, blood pressure 92/44 mm Hg, pulse is 144/min and RR is 68/min. Physical examination reveals diffuse expiratory wheezes scattered rales.
Condition?
Epidemiology?
Risk in children?
Bronchiolitis
Age <2
RSV most common cause
Apnea
200
Minimum age to diagnose ADHD
4-5 years
201
Sever hypoglycaemia with loss of consciousness treatment -
In non medical setting
In medical setting
Intramuscular Glucagon
IV dextrose
202
First pharyngeal arch derivatives?
Trigeminal nerve
Maxilla, zygoma, mandible, incus and malleus
(Also muscles of mastication)
203
Second pharyngeal arch derivatives?
Facial nerve
Styloid process of temporal bone, lesser horn of hyoid and stapes
(Also muscles of facial expression)
204
Genetic disorder resulting in abnormal development of the first and second pharyngeal arches? Other issues?
Treacher-Collins syndrome.
Issues with airway compromise and feeding.
205
Congenital long QT syndrome -
Cause?
Consequences of the disease?
Genetic mutations in a K+ channel protein that contributes to the outward-rectifying potassium current
Prolongation can cause palpitations, syncope, seizures or sudden cardiac death
206
A 45-year-old woman comes in with long hx of joint pain, swelling and stiffness. She recently immigrated to the US. Physical examination her PIP and MCP joints are tender and swollen bilaterally and her fingers appear deformed. Subcutaneous nodules palpated near the elbow.
Diagnosis?
Lab results?
X-ray?
Rheumatoid arthritis
Positive rheumatoid factor and anti cyclic citrullinated peptide antibodies
Soft tissue swelling, joint space narrowing, bony erosions (Also affects cervical spine involvement - subluxation, cord compression)
207
6-mercaptopurine and 6-thioguanine -
Activated by?
Inactivated by?
How do you increase 6MP concentration?
Hypoxanthine-guanine phosphoribosyl transferase
Xanthine oxidase and thiopurine methyltransferase in the liver
Allopurinol
208
Methotrexate -
| Mechanism?
Inhibits dihydrofolate reductase so it blocks the conversion of dihydrofolate to tetrahydrofolate and disrupts the synthesis of thymidine
209
Monoamine oxidase inhibitors -
Used for?
Mechanism?
Atypical depression
Inhibit the degradation of neurotransmitters NE, dopamine and 5-HT
210
What inhibits topoisomerase II?
Etoposide and teniposide
211
```
A 62-year-old man comes to ED with 3 days of a severe sore throat, difficulty swallowing and hoarseness. He has no chronic medical conditions but has not seen a physician in years. Only received recommended childhood vaccinations but none since then. He is a farmer and has not travelled recently but has been in contact with migrants. Physical examination reveals pharyngeal erythema and oedema with coalescing grey exudate. Bilateral cervical lymph nodes are enlarged and tender. A rapid strep test is negative. Swab culture grows non-spore-forming, gram-positive rods.
Diagnosis?
Epidemiology?
Pathogenesis?
Toxin effects?
Potential systemic effects?
Treatment?
```
Diphtheria
Rare in developed countries due to vaccination (risk is not getting 10 year booster shot)
Corynebacterium dipheriae colonizes the resp tract -> secretes toxin -> Inhibits host protein synthesis
Myocarditis/heart failure
Treat with diphtheria antitoxin and antibiotics
AB exotoxin that inhibits synthesis by ADP ribosylation of EF-2 - toxin acts locally cause resp cell necrosis and formation of fibrinous exudates
212
A 67-year-old man comes in with right tibial pain that started 3 months ago and increased in intensity over time. He has had progressive hearing impairment for the last year. Physical exam reveals local tenderness and lumpy protuberance over the right tibia. Bone biopsy shows numerous multinucleated cells.
Diagnosis?
Characterised by?
Important factors of osteoclast differentiation?
Paget's disease of bone
Excessive osteoclastic bone turnover followed by increased bone formation by osteoblasts leading to high turnover -> disorganised bone remodelling.
Requires macrophage colony-stimulating factor and receptor for activated nuclear factor kappa-B ligand (RANK-L)
213
The best test to monitor the anticoagulation effect of warfarin?
Prothrombin time or INR
214
The best test to monitor the anticoagulation effect of unfractioned heparin?
Activated partial thromboplastin time (aPTT)
215
GLUT-4 - where is it located? Where is the GLUT4 protein stored?
Skeletal muscle cells and adipocytes
| Stored in cytoplasmic vesicles
216
26-year-old woman dies shortly after a sudden-onset, severe headache. Recently diagnosed hypertension but no other issues. Used to be a lifetime smoker. Autopsy reveals evidence of intracranial haemorrhage. Carotids appear tortuous distally with alternating areas of fibrotic webs and aneurysmal dilation. Microscopically, the aneurysmal segments lack an internal elastic lamina. She also has renal artery stenosis.
Condition?
Diagnosis?
Fibromuscular dysplasia
Common in women, age <55
Angiography (CT, MRI, percutaneous)
String of beads appearance (multifocal disease)
217
The average age of menopause?
| Diagnosis?
Around age 51
Diagnosable after 12 months of amenorrhea and an elevated serum FSH confirms.
Increased FSH levels due to resistant ovarian follicles and lack of feedback from inhibin.
218
What correlates with the potency of an inhaled anaesthetic?
Minimal alveolar concentration
219
```
Hepatitis A -
Transmission?
Incubation period?
Where is it common?
Outbreaks?
Symptoms and signs?
```
Fecal oral transmission
30 day incubation
Overcrowding and poor sanitation
Contaminated water or food with raw or steamed shellfish
Malaise, fatigue, anorexia, N&V, mold abdominal pain.
Hepatomegaly is seen.
It is self limiting
220
Ipratropium -
What is it?
Derivative of?
What does it treat? and how?
An anticholinergic agent
Derivative of atropine
Treats obstructive lung disease by blocking Ach at muscarinic receptors
(prevents bronchoconstriction and reduces mucus secretion from tracheobronchial glands)
221
Albuterol -
What is it?
Used for?
Short acting selective beta-2 agonist
| First line or asthma and COPD
222
Flunisolide -
What is it?
Used for?
Inhaled glucocorticoids
| Treatment of persistent asthma and COPD with frequent exacerbations
223
Nifedipine -
Mechanism of action?
Side effects?
Bronchodilation by blocking calcium influc into bronchial SMCs
Peripheral edema and dizziness/lightheadedness
224
Theophylline and aminophylline -
What is it?
Mechanism of action?
Risks of OD?
Methylxanthines
Bronchodilation by blocking phosphodiesterase activity thereby increasing the intracellular concentration of cyclic AMP
Seizures and tachyarrhythmias
225
```
49 year old man comes in with 4 months of a cough and weight loss. The patient is a farmer in Mississippi. Examination shows right lobe crackles and CXR shows pulmonary infiltrate in the right upper lobe. Bronchoscopy with transbronchial biopsy shows granulomatous inflammation. HIV test is negative.
Diagnosis?
What is it?
Where is it found?
Transmission?
Treatment?
```
Blastomyces dermatitidis
Dismorphic fungus
Soil, organic matter and many animals
(In immunocompetent host its pulmonary)
Transmitted by respiratory route, entering the lungs and transforming into yeast form.
Itraconazole
226
Host cell receptor -
HIV gp120
EBV gp350
Parvovirus B19
CD4
CD21
Erythrocyte P antigen
227
Probability that phenotypically normal parents will have a female sibling of a male affected by an X-linked recessive disease will give birth to an affected child?
1/8
228
The 13-year-old girl brought to the physician for her yearly. BP is 152/91 with pulse 75 and RR at 18. Physical examination shows a lack of secondary sexual characteristics and pelvic exam shows a blind vagina. Lab results show hypokalemia and low testosterone and estradiol levels. 46 XY karyotype.
Diagnosis?
Deficient enzyme?
Congenital adrenal hyperplasia
17a hydroxylase enzyme deficiency (Synthesis of 17-hydroxy from progesterone)
High ACTH that result from decreased cortisol production overstimulate the mineralocorticoid pathway.
229
```
Side effects of the pharmacotherapy for supraventricular arrhythmias:
Flecainide/propafenone (class IC)
Metoprolol (class II)
Amiodarone (class III)
Ibutilide/dofetilide/sotalol (class III)
Verapamil/diltiazem (class IV)
Adenosine
Digoxin
```
Ventricular arrhythmias
Bradycardia & advanced AV block
Bradycardia, thyroid dysfunction and hepatic toxicity (photodermatitis, blue/geay skin discoloration, pulm fibrosis)
Torsades de pointes (blocks K+ channels)
Bradycardia & advanced AV block, decreased ventricular contractility, constipation (verapamil)
Flushing & hypotension, bronchospasm, high grade AV block
Bradycardia &other arrhythmias, N&V and visual disturbances
230
What does telomerase add to chromosomes?
TTAGGG
231
What makes up active MS plaques?
Perivenular inflammatory infiltrates mades up of primarily auto reactive T lymphocytes and macrophages directed against myelin components.
232
1 year old boy is brought to clinic with repeated infections over the last 4 months. These include otitis media, pneumonia and erysipelas. The father says that his son is constantly on antibiotics and is afraid that he will end up like his uncle who passed away from pneumonia as a teenager. The boy also has persistent diarrhea and a recent stool antigen detection assay was positive for Giardia lamblia. Ig panel demonstrates low serum levels. Intradermal injection of Candida antigens resulting in a large indurated nodule within 48 hours.
Diagnosis?
Pathogenesis?
Deficiency?
What do lymph nodes lack?
X-linked agammaglobulinemia
This condition results from a mutation in the *Bruton tyrosine kinase* causing a failure of bone marrow pre-B cells to develop into mature B lymphocytes.
CD19, CD20
Germinal centres and primary lymphoid follicles no for form due to an absence of B cells. (Present after 6 months cause then no more antibodies from mom)
- Bacterial, enterovirus and giardia****-
- NO LIVE VACCINES (polio)-
233
Reactions where biotin (Vitamin B7) is a cofactor?
Causes of biotin deficiency?
Symptoms?
Pyruvate to oxaloacetate (gluconeogenesis)
Acetyl-CoA to malonyl-CoA (fatty acid synthesis)
Propionyl-CoA to methylmalonyl-CoA (fatty acid oxidation)
Excess ingestion of avidin, found in raw egg whites.
Mental status changes, myalgias, anorexia, macular dermatitis and lactic acidosis
234
54-year-old woman is evaluated in the clinic for exertional dyspnea and easy fatigability. No chest pain, cough or wheezing. No smoking or drinking. Unstable gait when her eyes are closed and there is impaired vibratory sensation in the lower extremities. Marked pallor of the conjunctivae, nail beds and palms present.
Diagnosis?
Characteristic findings?
Lab results?
Vitamin B12 deficiency
Subacute combined degeneration of the dorsal columns and lateral corticospinal tract.
Elevations in methylmalonic acid and levels occur due to decreased metabolism of these molecules
235
Patient eats rat poison. What is the immediate treatment? Why?
Fresh frozen plasma
| Behaves similar to warfarin
Vitamin K is effective but takes days while protamine is ineffective
236
Treatment of heparin OD?
Protamine
| Vit K and FFP are ineffective
237
Fick's principle cardiac output formula?
CO = rate of O2 consumption/arteriovenous O2 content difference
238
Small for gestational age infant is born prematurely to a 38 year old woman who had inconsistent prenatal care. Small head and eyes as well as celft lip and palate and one extra finger. There is a small, round punched out lesion with an overlying thin membrane on the patient scalp. A small membranous sac with loop of bowel protrudes from the patient's abdominal midline (omphalocele). The infant is transferred to NNU for furthur work up.
Diagnosis?
Risk factors?
Patau syndrome or trisomy 13 reflecting a defect in the fusion of the prechordal mesoderm.
Maternal age >=35 years age meiotic nondisjunction.
239
Where does iron absorption occur?
| Effect of gastrojejunostomy and other potental malabsorption?
Duodenum and proximal jejunum
Bypass leads to iron deficiency anemia. Malabsorption of Vit B12, folate, fat-soluble vitamins and calcium.
240
48 year old woman comes to the office with an intermittent ear discharge over the last 2 years. She also noticed decreased hearing in the right recently. Her PMH is significant for obesity, hyperlipidemia, seasonal allergies and diet controlled diabetes mellitus. Otoscopy shows small perforation in right tympanic membrane and pearly mass behind the membrane. Conduction hearing loss is noted in the right ear.
Diagnosis?
What is it?
Cause?
Cholesteatomas
Collection of squamous cell debris that form the pearly mass.
They are a result of chronic negative pressure in the middle ear causing retraction pockets in the tympanic membrane that become cystic.
241
```
42 year old comes to ED with worsening jaw pain and stiffness. His symptoms began 2 days ago and have limited his ability to eat. Today he also develops a stiff neck. No fever, chills, headaches or focal weakness. This patient is a farmer in rural pennsylvania and sustained a wooden splinter injury to this forearm a week ago. He is not able to open his mouth. (trismus)
Diagnosis?
Establishing diagnosis?
Neurotransmitters affected?
Prevention?
```
Tetanus
Clinical diagnosis only
Prevents release of inhibitory NTs glycine and GABA.
Tetanus toxoid vaccination
242
Generalised anxiety disorder -
Clinical features?
Treatment?
```
Excessive, uncontrollable worry >= 6 months
>3 of the following symptoms:
Restlessness
Fatigue
Difficulty concentrating
Irritability
Muscle tension
Sleep disturbance
```
Cognitive-behavioural therapy
SSRIs or SNRIs
243
1st pharyngeal arch
Trigeminal nerve
| Maxillary artery
244
2nd pharyngeal arch
Facial
| Stapedial artery
245
3rd pharyngeal arch
Glossopharyngeal nerve
Common carotid artery
Proximal internal carotid artery
246
4th pharyngeal arch
Superior laryngeal branch of Vagus
True aortic arch
Subclavian arteries
247
6th pharyngeal arch
Recurrent laryngeal branch of vagus
Pulmonary arteries
Ductus arteriosus
248
10-year-old boy whose family recently immigrated to the US is brought to the physician with ataxia, myoclonus and visual problems. His parents said he has begun acting strangely and having difficulty with his school work seveeral months ago. After the appropriate workup, a brain biopsy is obtained and a RNA virus containing hemagglutinin is cultured from the tissue.
Diagnosis?
Main diagnosis?
Subacute sclerosing panencephalitis
Measles
249
A 3 week old girl in NNU develops abdominal distension, vomiting and blood-streaked stools. She had reviously tolerated formula feeds and had normal stool and urine output. She was born at 27 weeks gestation to an 18 year old mother. Her pregnancy was complicated by premature rupture of membranes and preterm deelivery. Abdo XR shows thin curvilinear areas of lucency that parallel the bowel wall lumen (pneumatosis intestinalis).
Diagnosis?
Necrotizing enterocolititis
250
```
3 year old boy is brought to the physician with jaundice and pallor. He was adopted. Lab studies show anemia, reticulocytosis and increased indirect bilirubin. Peripheral blood smear shows RBCs without central pallor. Also increased mean corpuscular hemoglobin concentration.
Diagnosis?
Pathogenesis?
Lab findings?
Treatment?
Complications?
```
Hereditary spherocytosis
Defective binding of the red cell cytoskeleton to the plasma membrane due to mutations involving ankyrin band 3.
Increased mean corpuscular hemoglobin conc.
Spherocytes on peripheral smear
Negative Coombs
Increases osmotic fragility on acidified glycerol lysis test
Splenectomy
Pigmented gallstones
Aplastic crises from parvovirus B19 infection
251
```
A 36-year-old man is admitted with severe left leg pain after suffering a minor laceration to his leg 2 days earlier. The patient's left leg is swollen and firm with erythema of overlying skin. There is a small wound draining blood tinged exudate on his left calf. He went to OR and a large area of necrotic tissue is excised. Gram stain of the necrotic tissue hows Gram-positive cocci and culture of the bacteria performed on a blood agar plate grows small colonies with a wide zone of surrounding hemolysis. Coagulase and catalase are negative and pyrrolidonyl arylamidase (PYR) test is positive.
Diagnosis?
Microbiology?
Pathogenesis?
Treatment?
```
Necrotizing fasciitis
Strep pyogenes (Group A strep)
Staph aureus
Clostridium perfringens
Polymicrobial
Bacteria spread rapidly through subcut & deep fascia undermining the skin
Involves extremities and perineal region
Surgical debridement & broad spectrum abx
252
Oxidase positive, non-lactose-fermenting, gram-negative rods.
Pathogen?
Effect?
A hydrophila
Gastroenteritis, wound infections and bacteremia following exposure to contaminated water
253
Large, spore-forming, anaerobic, gram-positive rid that is catalase negative and coagulase negative.
Pathogen?
Effect?
Blood agar?
C perfringens
Food poisoning, clostridial myonecrosis (gas gangrene) and bacteremia
Double zone of beta-hemolysis
254
Gram-positive coccus that grows in clusters. It is catalase positive, coagulase possitive and PYR negative. Large colonies and demonstrates beta-hemolysis.
Pathogen?
S aureus
255
Hematuria, Proteinuria and urine RBC casts are present in the patient with hypercellular glomeruli on light microscopy.
Most likely diagnosis?
Lab finding?
Immune complexes?
Post streptococcal glomerulonephritis
Elevated titers of anti-step antibodies (anti-streptolysin O, anti-DNase B, anti-cationic proteinase) and low C3 concentration
IgG, IgM and C3
256
14-year-old girl comes to the ED due to rapidly progressive exertional dyspnea and generalised weakness which wre preceded by a mild febrile illness several days go. She has hx of sickle cell disease and takes a daily folic acid supplement. O/E the patient has conjunctival pallor but no icterus. A cardiax flow murmur is present. The abdomen is soft and nontender with no organomegaly. Lab studies show hematocrit 16%. Leukocyte and platelet counts are normal.
Diagnosis?
Pathogen?
Parvovirus B19
Non-enveloped single-stranded DNA virus (infection of erythroid precursor cells in the bone marrow)
Aplastic crisis - destruction of erythroid precursor cells by this virus diminishes the number of reticulocytes available to replace the deformed and/or removed erythrocytes.
257
Enveloped double-stranded DNA virus
Hepadna (Hep B)
Herpes (Varicella, HSV-1, HSV-2)
Pox (smallpox)
Epstein Bar virus
258
Enveloped single-stranded positive sense RNA virus
Hepatitis C
259
Nonenveloped single-stranded positive sense RNA virus
Hepatitis E
260
Nonenveloped double-stranded DNA viruses
Adenoviruses, papillomaviruses and polyomaviruses (don't normally cause hematopoietic depression or aplastic anemia)
261
Enveloped negative-sense RNA virus
Orthomyxoviruses (influenze), paramyxoviruses (measles and mumps) and rhabdoviruses (rabies)
Normally don't infect erythroid progenitor cells
262
```
Preferred provider organization -
Monthly premiums
Copayments & deductibles
PCP referral required for specialist visits
Size of in-network provide panel
Outside provider network
```
```
High
Medium
No
Large
Yes
```
263
```
Health maintenance organization -
Monthly premiums
Copayments & deductibles
PCP referral required for specialist visits
Size of in-network provide panel
Outside provider network
```
```
Low
Low
Yes
Limited
No
```
264
```
Point-of-service plan -
Monthly premiums
Copayments & deductibles
PCP referral required for specialist visits
Size of in-network provide panel
Outside provider network
```
```
Medium
Variable
Yes
Limited
Yes
```
265
Chronic conditions that cause clubbing:
Lung diseases
Heart diseases
Other
Lung: Lung cancer, TB, CF, bronchiectasis, pulm HTN, empyema, chronic lung abscesses and many other chronic lung diseases associated with hypoxia
Heart: Tetralogy of fallot, truncus arteriosus, transposition of the great arteries, total anomalous pulm venous connection, tricuspid atresia and bacterial endocarditis
Other: IBD (Crohns, UC), hyperthyroid, malabsorption
266
Neurofibromatosis type 1 -
Inheritance?
Chromosome?
Symptoms?
Autosomal dominant condition
Chromosome 17 - NF1 tsg (codes for neurofibromin)
Cafe-au-lait spots, multiple neurofibromas, Lisch nodules, Pseudoarthrosis
267
Risk factors for cervical cancer
```
Infection with high-risk HPV strains (16,18) -> cervical dysplasia and carcinoma
Hx of STDs
Early onset of sexual activity - before age 18
Multiple or high-risk sexual partners
Immunosuppression
oral contraceptive use
Low socioeconomic status
Tobacco use
```
268
Bell's palsy symptoms
Paresis of facial nerve
Impaired eye closure
Eyebrow sagging
Inability to smile and frown on the affected side
Disappearance of the nasolabial fold
The mouth being drawn to the non-affected side.
Decreased tearing
Hyperacusis
Loss of taste sensation over the anterior 2/3s of the tongue
269
DSM-5 criteria for Anorexia
Restricted energy intake with significantly low body weight (BMI<18.5)
Intense fear of becoming fat
Distorted body image, excessive influence of weight on self-worth
270
Medical complications for Anorexia
```
Osteoporosis - fragility fractures
Amenorrhea
Lanugo or hair loss
Parotid hypertrophy (if binge/purge)
Hypotension
Hypothermia
Bradycardia
Cardiac atrophy
Arrhythmias
```
271
Worrying meningitis triad?
| Immediate decisions?
High fever >38
Stiff neck
Altered LOC
Blood cultures
Empiric abx
LP
272
```
Unvaccinated 20-month-old girl is brought to the ED with a rash. Three days ago she had a fever along with cough, congestion, and red eyes. The rash appeared on her face yesterday and spread to her trunk, arms and legs. Temp is 39.4. She is lethargic and ill appearing. Physical examination shows conjunctival injection and a diffuse, maculopapular, erythematous rash.
Diagnosis?
Complications?
What deficiency causes complictations?
Prevention?
```
Measles virus
```
Pneumonia
Secondary Bacterial infections
Neurologic - Encephalitis (within days)
Acute disseminated encephalomyelitis (Within weeks)
Subacute sclerosing panencephalitis
```
Vitamin A supplementation is recomended (infections deplete vit A stores)
Live attentuated vaccine
273
A previously healthy 2-year-old boy is brought to the clinic with fever and mouth pain that began yesterday. he has consumed an adequate amount of fluids but refuses to eat due to the pain. No medical issues or medications. Physical examination reveals swollen gums and vesicular, inflamed lesions on his hard palate and lips. He has enlarged and tender cervical lymph nodes.
Diagnosis?
Microbiology?
Primary herpes simplex virus type 1
DNA virus, double-stranded, enveloped
274
Abdominal pain, vomiting, diarrhea, hypotension and a garlic odor on the breath.
Insecticides, pressure treated wood and contaminated water are common sources.
Diagnosis?
Pathogenesis?
Long term symptoms?
Treatment?
Arsenic poisoning
Arsenic binds to sulfhydryl groups, impairing cellular respiration via inhibition of pyruvate dehydrogenase.
Hypo/hyperpigmentation, hyperkeratosis, stocking-glove neuropathy
Dimercaperol
275
Acute lead poisoning presents with constipation, anemia and irritability and confusion.
Treatment?
CaNa2 EDTA for lead toxicity by increasing urinary excretion.
276
Iron OD treatemnt?
Deferoxamine
277
Cyanide poisoning -
Symptoms?
Antidote?
Confusion, flushing/cherry red skin color, abdo pain and vomiting
Hydroxycobalamin (Vit B12 precursor)
278
What does methylene blue treat?
| Symptoms?
Methemoglobinemia
(sulfa drugs or newborns)
Gray or blue colored skin, SOB and chocolate covered blood.
279
Pioglitazone -
Type of drug?
Side effect?
Thiazolidinediones
Weight gain and edema
280
Lithium -
| Adverse effect
Diabetes insipidus
Hypothyroidism
Tremor
Ebstein anomaly
281
Valproate -
| Adverse effect
Hepatotoxicity
| Neural tube defects
282
Carbamazepine -
Used for?
Mechanism?
Adverse effect
First line for trigeminal neuralgia
Inhibits neuronal high-frequency firing by reducing the ability of sodium channels to recover from inactivation
Aplastic anemia
SIADH
Neural tube defects
Bone marrow suppression
283
Lamotrigine -
| Adverse effects
Benign rash
| Stevens-Johnson syndrome
284
46-year-old woman comes to the office with a painful rash involving her groin and legs that has been worsening over the last 2 weeks. She was diagnosed with diabetes mellitus 6 months ago but has no medical problems other than occasional loose stools. Physical examination shows coalescing erythematous plaques with crusting and scaling at the borders and central areas of brownish induration. Biopsy reveals superficial necrolysis.
Diagnosis?
Lab results?
Skin finding?
Glucagonoma
Elevated glucagon levels
Necrolytic migratory erythema
285
11B hydroxylase vs 21 hydroxylase - difference?
11b - hypertension and hypokalaemia
| 21 - hypotension and hyperkalemia
286
Hypersensitivity Type 1 -
Humoral components
Cellular components
Examples
IgE
Basophils
Mast cells
Anaphylaxis
Allergies
287
Hypersensitivity Type II (cytotoxic) -
Humoral components
Cellular components
Examples
IgG and IgM autoantibodies
Complement activation
NK cells, Eosinophils, neutrophils, macrophages
Autoimmune haemolytic anemia
Acute hemolytic transfusion reaction
Hemolytic disease of newborn
Goodpasture syndrome
288
Hypersensitivity type III -
Humoral components
Cellular components
Examples
(Immune complex)
Deposition of antibody-antigen complexes and complement activation
Neutrophils
Serum sickness
PSGN
Lupus nephritis
289
Hypersensitivity type IV -
Humoral components
Cellular components
Examples
(Delayed)
None
T cells and macrophages
Contact dermatitis
Tuberculin skin test
290
Thorn prick -
Pathogen?
Biopsy?
Treatment?
Sporotrichosis caused by sporothrix schenckii
Granuloma consisting of histiocytes, multi nucleated giant cells and neutrophils, surrounded by plasma cells.
Itraconazole
291
Bats and bird droppings in Ohio and Mississippi River valley associated pathogen?
Pathophysiology?
Disease course in immunocompromised?
Histoplasma capsulatum (fungal infection)
Inhaled -> phagocytosed by alveolar macrophages -> escapes lysosyme destruction and spreads to hilar/mediastinal lymph nodes
Disseminated disease through liver, spleen or bone marrow.
292
```
42 year old woman gravida 4, para 4 comes to the clinic due to heavy and painful menstrual bleeding over the past 3 months. Her LMP was 4 weeks ago. Menarche was at age 10 and menstrual periods last 3-5 days and occur every 30 days. She is sexually active with her husband and does not have pain during intercourse. The patient had bilateral tubal ligation 3 years ago after the birth of her last child. She takes no medications and has no allergies. BMI is 24. On bimanual examination, the uterus is uniformly enlarged. Pregnancy test is negative. Biopsy shows secretory endometrium.
Diagnosis?
Tissue?
Epidemiology?
Symptoms?
```
Adenomyosis
Presence of endometrial glandular tissue within the myometrium.
Middle-aged parous females
Heavy menstrual bleeding and dysmenorrhea.
293
```
Huntington's -
Characteristics?
Age of onset?
Inheritance?
Macroscopic?
Microscopic?
Biochemical?
```
Involuntary choreiform movements, dementia, and behavioural abnormalities.
35-45 yrs old
Autosomal dominant - increased trinucleotide repeats
Atrophy of caudate nucleus
Moderate atrophy of the putamen and frontal lobes
Loss of caudate nucleus and putamen
Decrease in GABA, ACh and substance P in the striatum
294
20 year old woman is brought to ED due to intractable vomiting and abdo pain. She has a several week hx of anorexia and weight loss. The patient has well controlled primary hypothyroidism treated with levothyroxine but has not taken her meds for 2 days because of vomiting. On examination, she is mildly lethargic but oriented. Generalised hyperpigmentation is present and is most conspicuous over the face, neck and dorsal surface of hands. Bolus of normal saline is rapidly infused.
Diagnosis?
Treatment?
Acute adrenal insufficiency (adrenal crisis)
Hydrocortisone or dexamethasone
295
```
During the course of a week at an overnight summer camp, 4 children age 7-9 are sent to camp health centre. They each have fever, cough, congestion, sore threat and red eyes. Physical exam of the children show bilateral conjunctival injection and an erythematous oropharynx. Auscultation of one child reveals crackles in the left lower lung fields. All symptoms improve over 7 days with supportive care.
Diagnosis?
Pathogen?
Transmission?
Occurence?
```
Adenovirus
Double stranded DNA
Direct contact, fecal-oral, respiratory droplets
Occurs year round
296
7 year old child presents with fever, malaise and a classic "slapped cheek" rash. Diagnosis?
Parvovirus B19
297
Retroperitoneal abdominal organs?
```
Suprarenal glands
Aorta & IVC
Duodenum
Pancreas (head and body)
Ureters & bladder
Colon (ascending and descending)
Kidneys
Esophagus
Rectum (mid-distal)
```
298
Vitamin B1 -
What is it?
Primary function?
Deficiency?
Thiamine
Decarboxylation off a-keto acids (carbohydrate metabolism)
Beriberi (peripheral neuropathy, heart failure)
Wernicke-Korseakoff syndrome
299
```
Vitamin B2 -
What is it?
Primary function?
Deficiency?
Precursor for?
```
Riboflavin
Mitochondrial electron carrier (FMN, FAD)
Angular cheilosis, stomatitis, glossitis
Normocytic anemia
FMN and FAD. FAD functions as a component of succinate dehydrogenase.
300
Vitamin B6 -
What is it?
Primary function?
Deficiency?
Pyridoxine
Transamination of amino acids (amino acid synthesis)
Cheilosis, stomatitis, glossitis
301
Vitamin B9 -
What is it?
Primary function?
Deficiency?
Folate, folic acid
Hydroxymethyl/formyl carrier (purine & thymine synthesis)
Megaloblastic anemia
Neural tube defects (foetus)
302
Vitamin B12 -
What is it?
Primary function?
Deficiency?
Cobalamin
Isomerase & methyltransferase cofactor (DNA & methionine synthesis)
Megaloblastic anemia
Neurologic deficits
303
Vitamin C -
What is it?
Primary function?
Deficiency?
Ascorbic acid
Hydroxylation of proline & lysine (collagen synthesis)
Scurvy
304
```
30 year old woman comes to the ED with sudden-onset abdo pain and ascites. Lab results show anemia, reticulocytosis, leukopenia and thrombocytopenia. Flow cytometry of the patient's peripheral blood cells using the appropriate monoclonal antibodies shows CD55 and CD59 deficiency. CT scan of the abdomen shows hepatic vein thrombosis.
Diagnosis?
Cause of the anemia?
Classic triad?
Chronic hemolysis?
testing?
Complications?
```
Paroxysmal nocturnal hemoglobinuria
Complement activation
Hemolytic anemia (iron deficiency)
Pancytopenia
Thrombosis
Iron deposition in the kidney - hemosiderosis
Introduce sucrose to the serum and you will see red cells destroyed
AML
305
```
65 year old man comes to the office with several months of severe fatigue that limits his ability to do daily activities. He has had upper abdo fullness, early satiety and unintentional weight loss but no fever, night sweats, cough or rash. Doesn't smoke or drink or do drugs. Physical examination shows mucosal pallor with no scleral icterus. Lungs and heart clear. Mild hepatomegaly and the spleen tip is palpable near the midline. Lab results show pancytopenia and peripheral blood smear shows immature granulocytes, nucleated erythrocytes and tear drop cells. Bone marrow aspirated but yields no marrow.
Diagnosis?
Pathogenesis?
Histology?
Why is no marrow aspirated?
```
Primary myelofibrosis
Chronic myseloproliferative disorder with clonal megakaryocyte --> secrete TGF-B --> stimulates fibroblasts in BM to produce collagen --> BM fibrosis --> extramedullary hematopoiesis
Large islands of hematopoietic progenitor cells
Dry tap
306
60 year old comes in saying food tastes bland and is unable to enjoy flavours in a meal. Two months ago, the patient suffered traumatic brain injury after a head-on motor vehicle collision. He was in a coma for several days and after regaining consciousness he began having severe headaches and impaired taste. Headaches have improved. No vision or balance or strength issues. He is a truck driver and has had a hx of heavy tobacco use.
Cause of his symtoms?
Avulsion of olfactory rootlets
307
Multiple and deep ulcers
base may have gray to yellow exudate
Organisms often clump in long parallel strands "school of fish"
Causative agent?
Disease?
Painful initially?
Haemophilus ducreyi
Chancroid
Yes
308
Multiple, smal, grouped ulcers
Shallow with erythematous base
Multinucleated giant cells and intranuclear giant cells (Cowdry type A)
Causative agent?
Disease?
Painful initially?
Herpes simplex 1,2
Genital herpes
Yes
309
Extensive and progressive ulcerative lesions without lymphadenopathy
Base may have granulation-like tissue
Deeply staining gram-negative intracytoplasmic cysts
Causative agent?
Disease?
Painful initially?
Klebsiella granulomatis
Granuloma inguinale
No
310
Single, indurated, well-circumscribed ulcer
Clean base
Thin, delicate, corkscrew-shaped organisms on dark field microscopy
Causative agent?
Disease?
Painful initially?
Treponema pallidum
Syphilis
No
311
Small and shallow ulcers
Large, painful, coalesced inguinal lymph nodes
Intracytoplasmic chlamydial inclusion bodies in epithelial cells and leukocytes
Causative agent?
Disease?
Painful initially?
Treatement?
Chlamydia trachomatis
Lymphogranuloma venereum
No
Doxycycline
312
DSM 5 criteria schizophrenia?
```
>=2 of the following:
1) Delusions
2) Hallucinations
3) Disorganised speech
4) Disorganised or catatonic behaviour
5) Negative symptoms (apathy, reduced facial expressions, flat affect)
Continuous impairment >6 months
Significant function decline
```
313
How to improve treatment adherence in adolescence?
Close peers with complementary behaviour practices, positive family functioning, school involvement, physician empathy and immediate benefits of treatment?
314
What is ezetimibe?
| Mechanism of action?
Cholesterol lowering agent
Decreasing intestinal cholesterol absorption by inihibiting Neimann-Pick C1-like 1 (NPC1L1) transporter protein.
Total amount of dietary cholesterol decreases
To compensate the liver increases LDL receptor expression
315
Sulfonylureas, meglitinides
What is it?
Mechanism of action?
Side effects?
Insulin secretagogues
Increases insulin secretion by inhibiting B-cell K(atp) channels
Hypoglycemia
Weight gain
316
Metformin
Mechanism of action?
Side effects?
Stimulates AMPK decreasing glucose production and insulin resistance
Lactic acidosis (kidney insufficiency at risk)
317
Pioglitazone, Rosiglitazone
What is it?
Mechanism of action?
Side effects?
Thiazolidinediones
Activates transcription regulator PPAR-y, decreasing insulin resistance
Fluid retention/heart failure
Weight gain
318
Exenatide, Liraglutide
What is it?
Mechanism?
Side effects?
GLP-1 agonists
Increases glucose-dependent insulin secretion, decreases glucagon secretion, delays gastic emptying
Pancreatitis
319
Sitagliptin, Saxagliptin
What is it?
Mechanism?
Side effects?
DPP4 inhibitors
Increases endogenous GLP-1 and GIP levels
Nasopharyngitis
320
Acarbose, Miglitol
What is it?
Mechanism?
Side effects?
a-glucosidase inhibitors
Reduces intestinal disaccharide absorption
Diarrhea and flatulence
321
Canagliflozin, dapagliflozin
What is it?
Mechanism?
Side effects?
SGLT2 inhibitors
Increases renal glucose excretion
UTI
Hypotension
322
```
Glioblastoma -
Epidemiology?
Age of Onset?
Arises from?
Location?
Effects?
Symptoms?
Prognosis?
```
Most common primary cerebral neoplasm
40-70 years
Astrocytes
Frontal and temporal lobes, basal ganglia and commonly crosses the midline (butterfly distribution)
Mass effect with midline shift
Headache, seizure, bizarre giant cells, large number of mitoses
Poor prognosis (die within a year)
323
Meningiomas -
Appearance?
Arise from?
Location?
Well circumscribes neoplasms
Arachnoid cells (external to brain parenchyma)
Located of sites of dural reflection (falx cerebri, tentorium cereblli)
324
Schwannomas -
Location?
Presentation?
(Benign tumours)
Arise from vestibular branch of cranial nerve VIII at cerebellopontine angle
Sensorineural hearing loss and tinnitus
325
Stop codons?
UAA
UAG
UGA
326
Type II pneumocytes functions
Regeneration of the alveolar lining following injury
| Surfactant production
327
What causes maternal insulin resistance in the second and third trimesters?
Human placental lactogen secreted by syncytiotrophoblast
328
Bone appearance in HyperPTH?
Subperiosteal resorption with cortical thinning
329
Bone appearance in postmenopausal osteoporosis?
Trabecular thinning with fewer interconnections
330
48 year old man comes to hospital after a day of high grade fever, progressive headache and double vision. The patient has been having purulent nasal drainage and frontal headache for the past several days. Hx of type 2 DM. Physical exam shows ptosis, mydriasis, mild proptosis and loss of corneal reflex of the right eye. Visual acuity is normal but he cannot move his right eye at all. Also decreased sensation in the right upper face.
Diagnosis?
Common pathogens?
Cranial nerves involved?
Cavernous sinus thrombosis
Staph aureus, streptococci
III, IV, VI, V (ophthalmic and maxillary)
331
NK cells -
What do they express?
Activated by?
Responsible for?
CD 16 or 56
IFN-y and IL-12
Destruction of cells with decreased or absent MHC class I proteins on their surfaces. (via apoptosis)
332
5 year old boy is brought in due to recurrent generalised tonic clonic seizures over the past 24 hours. The patient has been having flu-like symptoms and high fever for the past 3 days. He has a PMH of febrile seizures at age 6 months. No FH of epilepsy and no meds. he appears lethargic and doesn't follow simple commands. His neck is supple. During the exam he suddenly develops sustained generalised tonic-clonic convulsions without fully regaining consciousness in between.
Diagnosis?
Treatment?
Mechanism?
Status epilepticus
IV benzodiazepine (lorazepam)
Enhanced postsynaptic chloride influx at the GABA-A receptor
333
Antioxidant enzymes that help acute compartment syndrome?
Superoxide dismutase
Glutathione perocidase
Catalase
334
```
Severe micrognathia (hypoplasia of the mandibular prominence) results in?
Condition?
```
Posterior displacement of the tongue (glossoptosis) and prevents fusion of the secondary palate (cleft palate)
Pierre-Robin sequence
335
What causes typical atrial flutter?
Large reentrant circuit that traverses the cavotricuspid isthmus the region of right atrial tissue between the IVC and tricuspid valve annulus.
336
24 year old woman comes in with fatigue, weakness and conjunctival pallor. She also has been bleeding from her gums and has 2 week history of easy bruising. She had a respiratory tract infection recently. Lab shows pancytopenia and no hepatosplenomegaly on examination.
```
Diagnosis?
Pathogenesis?
Cause?
Bone marrow Biopsy?
Differentials?
```
Aplastic anemia
Bone marrow failure due to hematopoietic stem cell deficiency (CD34+)
Autoimmune
Infections (parvovirus B19, EBV)
Drugs - carbamazepine, chloramphenicol, sulfonamides
Exposure to radiation
Hypocellular bone marrow with fat and stromal cells
Empty marrow
```
Severe vitamin B12 and folic acid deficiency anemia
Acute leukemia
Myelodysplastic syndrome (MDS)
```
```
Cessation of causative drugs
Transfusions
Marrow-stimulating factors
Immunosupress
BMT
```
337
Social anxiety disorder -
Diagnosis criteria?
Treatment?
Marked anxiety >1 social situations for 6 months
Fear of scrutiny by others, humiliation, embarassment
Social situations avoided or endured with intense distress
Marked impairment (social, academic, occupational)
SSRI/SNRI
CBT
B-blocker/benzo for performance type
338
Where do gonadal arteries arise from?
Abdominal aorta
339
22 year old man comes in with acute severe scrotal pain and has vomited twice in the last hour. His left testes is lying much higher than the right and has no cremasteric reflex on that side.
Diagnosis?
Testicular torsion
340
An infant is born at 39 weeks gestation to a 26 year old woman. Apgar scores were 8 and 9 at 1 and 5 minutes. The mother had gestational diabetes controlled by diet alone. Physical examination shows clitoromegaly and partial fusion of the labioscrotal folds. 46,XX karyotype. Abdo imaging shows bilateral adrenal hyperplasia.
Diagnosis?
Deficient enzyme?
Lab?
Congenital adrenal hyperplasia
21-hydroxylase (progesterone --> 11-deoxycorticosterone)
Elevated 17-OH progesterone
341
```
32 year woman comes to the office because she felt sad and worthless and cries for no reason. The patient has difficulty sleeping, decreased appetite and no longer enjoys spending time with her friends. no significant medical history, negative pregnancy test and TSH is within normal limits. The physician discusses the diagnosis with the patient and initiates first-line pharmacologic treatment. Two days after, the patient is brought to the ED after being found lying next to an empty bottle of the pills. BP is 146/92 and HR is 118. The patient is disoriented, tremulous and diaphoretic. She has abdominal cramps and diarrhoea. Neurologic exam reveals pupillary dilation, bilateral hyperreflexia in the lower extremities and bilateral, inducible ankle clonus.
Diagnosis?
Amino acid precursor?
Other causes?
Management?
```
Serotonin syndrome
Typtophan
Drug interactions -SSRIs and MAOI or linezolid
Overdose
MDMA
Stop the meds
Support and sedate with benzo
342
Antidote to serotonin syndrome
Cyproheptadine (5-HT antagonist)
343
Antidote to benzodiazepine OD
Flumazenil
344
Antidote for narcotic OD
Naloxone
345
Multiple ring enhancing lesion in HIV patient.
Diagnosis?
Other ways to get it?
Toxoplasmosis
Cat poop
Contaminated foods
346
Preventative agent following SAH to reduce morbidity and mortality
Calcium channel blocker
| Nimodipine
347
What does the presence of hemosiderin-laden macrophage in pulmonary alveoli indicate?
Stain used?
Chronic increase of pulmonary capillary hydrostatic pressure due to left heart failure. (left ventricular dysfunction)
Prussian blue stain
348
19 year old woman brought to ED after motor vehicle accident. history of celiac and 3 episodes of pneumonia. Pulse is 130/min and BP is 80/45. Physical exam reveals pallor and USS shows splenic laceration. She receives a blood transfusion with O-negative packed RBCs. During transfusion, the patient develops facial swelling, generalised hives and SOB.
Diagnosis?
Labs?
Selective IgA deficiency
Decreased or absent IgA
Normal IgG and IgM
(In coeliac disease you see)
349
```
Sickle cell trait -
Epidemiology?
Life expectancy?
Symptoms?
Diagnosis?
Protection?
```
African, Middle-eastern + Mediterranean; African-American, Hispanic
No change in life expectancy
No symptoms
HbA > HbS
Relative protection from Plasmodium falciparum (malaria) but not immunity
350
Embryological derivative of melanoma?
Neural crest (melanocytes)
351
Clinical features of melanoma
```
Asymmetry - 2 sides not identical
Border irregularities - unever edges
Color variegation - variable mixtures of brown, tan, black and red
Diameter - >6mm
Evolving - changing lesion or new lesion
```
352
Most common metastatic tumours to the brain?
Lung
Renal
Melanoma
353
21 year old athlete comes in due to recent weight loss and fatigue. He says no matter how much he eats, he keeps losing weight. He has been really thirsty and drinking lots of water and that makes him go to the bathroom frequently. He is sexually active and has one lifetime partner.
Diagnosis?
Cause?
Labs?
Type 1 diabetes mellitus
Autoimmune destruction of pancreatic beta cells
Insulin deficiency
```
Fasting glucose (>125 mg/dL)
Hemoglobin A1c (>6.4%)
Random glucose (>200 mg/dL)
OGTT
```
354
Common pathogens causing nosocomial bloodstream infections
Coagulase-negative staph
Staph aureus
Enterococci
Candida species
355
Common benzos:
short acting
intermediate acting
long acting
Triazolam, midazolam
Oxazepam, alprazolam, lorazepam
Diazepam, chlordiazepoxide
356
62 year old man comes to the ED due to severe colicky upper abdominal pain, nausea and vomiting. He reports several episodes of similar abdominal discomfort in the past. Doesn't drink, smoke, illicit drugs. He immigrated to the US from East Asia several years ago. Physical exam reveals RUQ tenderness. Imaging shows several gallstones in the common bile duct and gallbladder. The stones are removed from the duct endoscopically and a cholecystectomy is also performed. The gallstones are dark, brown soft and composed primarily of calcium bilirubinate.
Enzyme involved?
Beta-glucuronidases
| Liver fluke Clonorchis has a high prevalence in east asian countries
357
Giardia lamblia -
Treatment?
Epidemiology?
Colonization?
Metronidazole
Most common enteric parasite in the US and Canada
Duodenal and jejunal mucosal lining
358
```
Effects of prolonger glucocorticoid therapy -
Adipose?
Adrenal cortex?
Bone?
Immune system?
Liver?
Skeletal muscle?
Skin?
```
Lipolysis, altered fat distribution
Atrophy
Osteoporosis
Suppression, T-cell apoptosis
Increase gluconeogenesis and glycogenesis
Atrophy
Thinning, stria, impaired wound healing
359
Sacubitril -
| mechanism?
Inhibits Neprilysin preventing the degradation of ANP causing peripheral vasodilation and increased urinary excretion of Na and H2O
360
Leukotriene B4 -
| function?
Stimulates neutrophil migration to sites of inflammation
| Others include 5-HETE, C5a and IL8
361
Medication for treatment-resistant schizophrenia or schizophrenia associated with suicidality?
Adverse effects?
Clozapine
Agranulocytosis
Seizures
Myocarditis
Metabolic syndrome
362
Sensation of the anterior 2/3 of the tongue?
Mandibular division of the trigeminal nerve
363
Sensation of the posterior 1/3 of the tongue?
Glossopharyngeal nerve
364
C. diphtheria -
Toxin?
Microbiology?
Diphtheria toxin
| Inactivates EF-2 via ribosylation thus inhibiting host cell protein synthesis
365
P aeruginosa -
Toxin?
Microbiology?
Exotoxin A
Inactivates EF-2 via ribosylation thus inhibiting host cell protein synthesis
366
S aureus -
Toxin?
Microbiology?
Virulence factor?
Enterotoxin - superantigen that acts locally in the GI tract causing vomiting
TSS toxin - superantigen that stimulates T cells leading to widespread cytokine release and shock
Protein A - binds with Fc protein of IgG to prevent complement activation.
367
C botulinum -
Toxin?
Microbiology?
Botulinum toxin
| Blocks the presynaptic release of ACh at the neuromuscular junction resulting in flaccid paralysis
368
B pertussis -
Gram stain?
Toxin?
Microbiology?
Gram-negative coccobacilli
Pertussis toxin - inhibits phagocytes activity
Tracheal cytotoxin - destroys ciliated epithelial cells
Disinhibits adenylate cyclase via Gi ADP ribosylation, increasing cAMP production; causes increased histamine sensitivity & phagocyte dysfunction
369
V cholerae -
Toxin?
Microbiology?
Cholera toxin
Activates adenylate cyclase via Gs ADP ribosylation, increasing cAMP production in the host cell; causes secretory diarrhea, dehydration and electrolyte imbalances
370
Elevated free thyroxine (T4) and suppressed TSH with small thyroid and undetectable serum thyroglobulin.
Thyrotoxicosis
371
Appearance of pilocytic astrocytoma on MRI
Microscopic examination?
Location of juvenile masses?
Grey lesion with some white
Astrocytes with bundles of glial fibrillary acidic protein - positive hairlike processes and classic Rosenthal fibres and granular eosinophilic eosinophilic bodies
Juvenile ones arise in the cerebellum, brainstem, hypothalamic or optic pathways.
372
Ependymomas -
Arise from?
Occupy?
Microscopy?
Ependymal lining of the ventricle
Occupy the 4th ventricle
Perivascular pseudorosettes
373
Glioblastoma multiforme -
Arising from?
Located?
Microscopy?
GFAP-positive astrocytes
Cerebral hemispheres (crossing corpus)
Pseudopalisading pleomorphic cells
374
Medulloblastoma -
Location?
Microscopy?
Cerebellum (cerebellar vermis)
| Hyperchromatic nuclei that form Homer Wright rosettes
375
Oligodendrogliomas -
Location?
Microscopy?
Frontal lobe (calcified)
"fried egg" appearance surrounded by anastomosing capillaries
376
17 year old boy comes in due to difficulty seeing and blurred vision which has slowly worsened. He is 195 cm and 71 kg. He has a slight kyphosis and is hypermobile. He also has flat feet and his breast bone drops inward.
Diagnosis?
Pathogenesis?
Risks?
Marfan syndrome
Genetic defect in the glycoprotein fibrillin-1
Mitral valve prolapse and *cystic medial degeneration of the aorta*
377
13 year old boy is brought in due to right knee pain. Mild ache in the lower part of his knee that has worsened and is causing him to limp. Relieved by rest and can be reproduced when he straightens his knee. Evaluation reveals avulsion of the secondary ossification centre of the tibia due to repetitive muscle contraction and traction on the bone.
Diagnosis?
Insertion site of affected tendon?
Osgood-Schlatter disease
Tibial tuberosity (patellar tendon)
(Occurs due to repetitive quadriceps contraction)
378
Clindamycin, azithromycin, chloramphenicol -
Used to treat?
Mechanism of action?
Covers oral anaerobes and aerobic gram positive organisms (ie. lung abscess)
Binds to the bacterial 50S ribosomal subunit and disrupts protein synthesis (similar to macrolides)
379
Gram negative rods
MacConkey agar
Lactose fermenter (pink colonies)
Fast fermenters?
Klebsiella
E Coli (also indole positive)
Enterobacter
380
Gram negative rods
MacConkey agar
Lactose fermenter (pink)
Slow fermenters?
Citrobacter
| Serratia
381
```
Gram negative rods
MacConkey agar
Lactose non-fermenter (white)
Oxidase negative
TSI agar
No H2S production (gas)?
```
Shigella
382
```
Gram negative rods
MacConkey agar
Lactose nonfermenter (white)
Oxidase negative
TSI agar
H2S production (black)?
```
Salmonella
| Proteus
383
```
Gram negative
Motile aerobic
Blue-green pigment
Fruity odor
MacConkey agar
Lactose non fermenter (white)
Oxidase positive?
Dermatologic lesions?
```
Pseudomonas aeruginosa - produces a green pigment (pyocyanin) during culture
Ecthyma gangrenosum
384
Lab test for osteoblastic activity?
ALP
385
Lab tests for osteoclastic activity?
Urinary deoxypyridinoline
Urinary hydroxyproline
Tartrate-resistant acid phosphatase
386
Tumour lysis syndrome -
Labs?
Treatment?
Hyperphosphate
Hypocalcemia
Hyperkalaemia
Hyperuricemia
Allopurinol
Rasburicase
387
Graves ophthalmopathy -
Cause?
treatment?
Stimulation of orbital fibroblasts by thyrotropin receptor antibodies and cytokines released by activated T-cells
Glucocorticoids decrease the severity of inflammation and reduce the excess extraocular volume.
388
Blanching of a vein with NE -
What does that mean?
Pathogenesis?
Treat?
NE extravasation
Leak causes intense a1 receptor mediated vasoconstriction which can lead to local tissue necrosis
Phentolamine - a receptor blocker
389
Pituitary adenoma -
ACTH?
Cortisol?
High dose dexamethasone?
High, High
Cortisol reduces
390
Ectopic ACTH secretion -
ACTH?
Cortisol?
High dose dexamethasone?
High, high
Cortisol remains elevated
391
Adrenal adenoma/carcinoma -
ACTH?
Cortisol?
High dose dexamethasone?
Low, high
Cortisol remains elevated
392
A newborn is examined after induced vaginal delivery. Visual inspection shows the infant has low set ears, a small mandible and a prominent occiput and rocker-bottom feet. The neonate has a weak cry and increased tone of the extremities. (Clenches hands with second and 5th degitis on top of 3rd and 4th)
Auscultation reveals harsh, IV/VI holosystolic murmur best heard at left sternal border.
Diagnosis?
Trisomy 18 - Edwards syndrome
393
12 year old girl comes in with constant swelling and pain of her elbows. She had knee pain the preceding week. Parents say she is healthy and only had minor illness in the winter. temperature is 38.9. A new holosystolic murmur is heard on auscultation. Antistreptolysin O titers are 400 (normal is <300)
Diagnosis?
Pathogenesis?
Risk of dying?
Acute rheumatic fever
Occurs 2-4 weeks after acute Group A strep
Pancarditis (mitral regurg)
Her migratory arthritis and positive titer make this the most likely diagnosis.
394
```
Peripheral precocious puberty
Irregular cafe-au-lait macules
Polyostotic fibrous dysplasia
Diagnosis?
Pathogenesis?
Complications?
```
McCune-Albright syndrome
Mutation GNAS gene
Constant G protein activation
Hormone overproduction
Thyrotoxicosis
Acromegaly
Cushing syndrome
395
65 year old woman comes to ED with progressive fatigue and lower-extremity paresthesias. MCV of 112 fL (slightly high). Upper GI endoscopy shows atrophic glandular mucosa in the gastric body and fundus and a normal-appearing antrum.
Diagnosis?
Cause?
Progressive findings?
Pernicious anemia
Autoimmune disorder caused by cell-mediated destruction of parietal cells.
Progressive destruction leads to chronic atrophic gastritis characterised by CD4 predominate inflammatory infiltrate, oxyntic gland atrophy and intestinal metaplasia.
Can develop B12 deficiency after a critical number of parietal cells are destroyed.
396
```
Wiskott-Aldrich syndrome -
Characteristic triad?
Inheritance?
Immunodeficiency?
Infection risk?
Treatment?
```
Eczema, reccurent infections and thrombocytopenia (petechia, purpura, hematemesis and epitaxis)
Mutation on the X chromosome (only present in males)
Combined B and T lymphocyte disorder
Polysaccharide capsule - Neisseria men, H influenza, Strep pneumo.
HLA-matched bone marrow transplantation
397
Chediak-Higashi -
| Important clinical findings
Oculocutaneous albinism, peripheral neuropathy and immunodeficiency as phagocyte phagosome-lysosome fusion
398
Leukocyte adhesion deficiency -
Pathogenesis?
Presentation?
Defect in CD18, a common component in many integrins that is normally responsible for leukocyte adherence and transmigration through endothelial walls
Marked peripheral leukocytosis with neutrophilia
Delayed seperation of the umbilical cord
Recurrent cutaneous infections without pus formation and poor wound healing
399
Premature ejaculation -
| Diagnostic criteria?
Unwanted episodes of early ejaculation accompanied by lack of control.
Ejaculation within one minute of penetration, most of the time for at least 6 months
400
23 year old woman comes in with acute N&V. She recently returned from a trip to Mexico and started to feel queasy on the last day. She then developed nausea with frequent vomiting and intermittent bouts of watery diarrhoea. She has no visible blood in the stool. Abdo exam shows mild tenderness and increased bowel sounds.
Diagnosis?
Pathogenesis?
Treatment? What receptor would the treatment target?
Travelers' diarrgea
E.Coli, Rotavirus, cryptosporidium parvum
Ondansetron
5-HT3 receptor antagonists
401
Biliary atresia -
Presentation?
Liver biopsy?
Jaundice, dark urine and acholic stools in the first 2 months of life due to conjugated hyperbilirubinemia.
Intrahepatic bile duct proliferation, portal tract edema, fibrosis
402
64 year old comes in with painless loss of vision in the right eye. Symptoms started suddenly several hours ago and have persisted. No trauma or any similar episode in the past. He has hx of CAD, AF and type 2 DM. BP is 144/86
CVS exam reveals irregularly irregular rhythm with no murmurs, no peripheral edema and slightly diminished pedal pulses in both feet symmetrically. Visual acuity in the right eye is hand motion only.
Diagnosis?
Fundoscopy?
Central retinal artery occlusion
| Pale retina and cherry red macula
403
Diabetic retinopathy -
| Presentation?
Blurry vision. black spots, floaters and decreased peripheral vision
404
1g of protein = how many calories of energy?
4
| Metabolism of one gram of fat produces 9 calories
405
52 year old is evaluated low grade fever, malaise, abdo pain and diarrhea. The patient underwent cadaveric renal transplant 6 months ago to treat renal failure from polycystic kidney disease. He takes maintenance immunosuppressive therapy. Physical exam shows mild tenderness in the lower abdo quadrants with no rebound tenderness. Serum immunosuppressant levels are within therapeutic range and renal function studies are normal. Colonoscopy reveals mucosal erythema and ulcerations. Biopsy shows large cells with inclusion bodies and in situ hybridisation yields viral DNA.
Diagnosis?
First line therapy?
Risk of treatment?
Cytomegalovirus reactivation - CMV colitis
IV ganciclovir - blocks CMV DNA polymerase
Side effects are neutropenia, anemia and thrombocytopenia
406
Nerve supply below the dentate line?
Inferior rectal nerve, branch of pudendal nerve
407
Key features of DCIS?
Central necrosis
Precancerous lesion
Confined to ducts and lobules
408
Key features of Paget disease?
Eczematous nipple lesion
| Extension of DCIS into ducts
409
Key features of Ductal carcinoma?
Most common type
| Nests and cords of cells
410
Key features of lobular carcinoma?
Small cells in single file
| Mammary stroma invasion
411
Key features of Inflammatory breast cancer?
Peau d'orange
| Dermal lymphatic invasion
412
```
34 year old man comes to the hospital due to several hours of difficulty swallowing, dry mouth and blurred vision. The patient has a hx of major depression. Examination shows mydriasis and poorly reactive pupils. Electrodiagnostic studies reveals normal nerve conduction velocity but decreased compound muscle action potential (CMAP). Rapid, repetitive nerve stimulation leads to facilitation of CMAP.
Diagnosis?
Pathogenesis?
Classic presentation?
How to destroy?
```
Food poisoning with Clostridium botulinum toxin
Toxin inhibits acetylcholine release from NMJ.
Diplopia, dysphagia and dysphonia
Can be destroyed with heat
413
```
44 year old man brought to ED because of confusion that began a few hours ago. Earlier he complained about a severe headache and nausea. Nuchal rigidity is present. LP was done:
Opening pressure 300 (high)
Glucose 20 (low)
Protein 200 (high)
RBCs 4
Leukocytes 760:
Neutrophils - 90%
Lymphocytes - 10%
```
Diagnosis?
Most common cause?
Gram stain of CSF?
Risk factors?
Bacterial meningitis
Streptococcus pneumoniae
Lancet-shaped Gram positive cocci
Alcoholics, sickle cell anemia, asplenic, poor healthy
414
Bean-shaped gram negative cocci in pairs -
Diagnosis?
Epidemiology?
Virulence factor?
What does bleeding from venous puncture sites mean in sepsis?
Neisseria meningitidis
Second most common <60 yr olds
Occur in outbreaks where many people live in close quarters - army barracks and college dorms
Lipo-oligosaccharide
DIC - excess fibrin exerts shearing forces on circulating erythrocytes --> schistocytes
415
Gram-negative coccobacillus cause of meningitis?
| Type of vaccine?
H influenzae
(Can also cause septic arthritis and both X factor (hematin) and V factor (NAD+)
Hib capsule vaccine - protein capsule polysachharide conjugate vacccine
416
Bacillus anthracis -
Toxin?
Mechanism and effects?
Bacterial virulence factor?
Anthrax toxin
Edema factor - increases cAMP by acting as an adenylate cyclase --> edema and phagocyte dysfunction
Lethal factor - zinc dependent protease that inhibits mitogen-activated protein kinase signaling --> apoptosis
"Medusa head"
Antiphagocytic D-glutamate capsule
417
C. difficile -
Toxins?
Mechanism and effects?
Toxin A - recruits and activates neutrophils --> mucosal inflammation, fluid loss and diarrhea
Toxin B - Induces actin depolymerization --> mucosal cell death, bowel wall necrosis and pseudomembrane formation
418
Shigella dysenteriae -
Toxin?
Mechanism and effects?
Shiga toxin
| Halts protein synthesis by disabling the 60S ribosomal subunit, leading to intestinal epithelial cell death and diarrhea
419
Strep pyogenes -
Toxin?
Mechanism and effects?
Pyrogenic extoxin - Superantigen inducing fever and shock --> associated with scarlet fever and strep toxic shock
Streptolysin O&S -
Damages erthrocyte membranes, causing beta hemolysis
420
```
Enterohemorrhagic E.Coli (EHEC) -
Presentation?
Associated?
Cause?
Toxin?
Mechanism and effects?
```
Blood diarrhea
Inadequately cooked hamburger meat
Shiga-like toxin
Enhanced by iron deficiency - inactivate 60S ribosomal subunit --> inhibition of protein synthesis and cell death
Can cause hemmorhagic colitis, hemolytic uremic syndrome (characterised by thrombocytopenia, microangiiopathic hemolytic anemia and renal insufficiency)
421
```
Thin, off-white discharge with fishy odor. No inflammation.
Diagnosis?
Pathogen?
Gram stain?
Lab findings?
Risk factors?
Treatment?
```
Bacterial vaginosis
Gardnerella vaginalis
Anaerobic gram-variable rod
ph>4.5
Clue cells - epithelial cells covered with gram-variable rods
Positive whiff test (amine odor with KOH)
Sexual intercourse increases the risk for bacterial vaginosis
Metronidazole or clindamycin
422
```
Thin, yellow-green, malodorous, frothy discharge. Vaginal inflammation is present.
Diagnosis?
Pathogen?
Lab findings?
Confirmatory test?
Treatment?
```
Trichomoniasis
Trichomonas vaginalis
ph >4.5
Motile trichomonads
Saline microscopy
Metronidazole; treat sexual partner
423
```
Thick, cottage cheese, discharge. Vaginal inflammation is present.
Diagnosis?
Pathogen?
Lab findings?
Treatment?
```
Candida vaginitis
Candida albicans
```
Normal pH (3.8-4.5)
Pseudohyphae
```
Fluconazole
424
Heavy menses, constipation, urinary frequency, pelvis pain/heaviness and enlarged uterus.
Diagnosis?
Fibroids
425
Dysmenorrhea, pelvic pain, heavy menses with a bulky, globular and tender uterus.
Diagnosis?
Lab?
Adenomyosis
Presence of endometrial glands within the uterine myometrium.
426
History of obesity, nulliparity or chronic anovulation
Irregular, intermenstrual or postmenopausal bleedings
Nontender uterus
Diagnosis?
Lab?
Endometrial cancer/hyperplasia
Increased endometrial gland to stroma ratio due to excess estrogen stimulation
427
```
67 year old man comes to the office with persistent headache and pain in the jaw when chewing food. For the past 2 months he has been unable to eat tough foods like steak because pain makes it take too long too chew. Hx pf HTN. type 2 DM and hyperlipidemia. Started on appropriate therapy and an arterial biopsy is performed. Histopathology shows multinucleated giant cell and internal elastic membrane fragmentation.
Diagnosis?
Labs?
Complication?
Cytokines involved?
Treatment?
Increased risk?
```
Giant cell arthritis
Elevated ESR and CRP
Biopsy - intimal thickening, elastic lamina fragmentation and multinucleated giant cells
Ischemic optic neuropathy
IL-6
Glucorticoids or Monoclonal antiboody against IL-6 (tocilizumab)
Thoracic aortic aneurysm
428
Vancomycin -
Mechanism?
Adverse?
Blocks glycopeptide polymerization by binding tightly to D-alanyl-D-alanine
Red man syndrome
Nephrotoxicity
429
Daptomycin -
Mechanism?
Adverse?
Depolarise cellular membrane by creating transmembrane channels
Myopathy and CPK elevation
Inactivated by pulm surfactant
430
Linezolid -
Mechanism?
Adverse?
Inhibits bacterial protein synthesis by binding to 50S subunit
Thrombocytopenia
Optic neuritis
High risk for 5-HT syndrome
431
7 year old boy is brought to the office by his mother due to facial puffiness that is noticeable in the morning. He has a hx of mild, intermittent asthma that is well controlled by albuterol as needed. Physical exam shows bilateral lower extremity pitting edema. Nephrotic range proteinuria consisting mainly of albumin is revealed on urinalysis.
Diagnosis?
Pathogenesis?
Effect?
Minimal change disease is the most common cause of nephrotic syndrome in children.
Systemic T-cell dysfuntion leads to production of glomerular permeability factor which causes podocyte foot process fusion and decreases the anionic properties of the GBM.
Loss of negative charge leads to selective albuminuria.
432
Ddx of back pain -
Positional
Relieved with rest
Degenerative (osteoarthritis)
Characterised by progressive fissuring, flaking and erosion of articular cartilage. Due to excessive biomechanical stress and increase intraarticular metalloproteinase activity.
433
Ddx of back pain -
Radiates to leg
Sensory and motor findings
Positive straight leg raise test
Radiculopathy (e.g. disc herniation)
434
Ddx of back pain -
Pain with standing (spinal extension)
Relieved by spinal flexion
Spinal stenosis
435
```
Ddx of back pain -
Young men
HLA-B27
Relieved with exercise
prolonged morning stiffness
```
Spondyloarthropathy
436
Ddx of back pain -
Constant pain
Worse at night
Not responsive to position changes
Spinal metastasis
437
Ddx of back pain -
Focal tenderness
Fevers and night sweats
Recent infection, IV drug abuse or immune compromise
Vertebral osteomyelitis
438
```
Postpartum blues -
Prevalence?
Onset?
Symptoms?
Management?
```
40-80%
2-3 days (usually resolves within 14 days)
Mild depression, tearfulness, irritability
Reassurance and monitoring
439
```
Postpartum depression -
Prevalence?
Onset?
Symptoms?
Management?
```
8-15%
Typically within 4-6 weeks (up to a year)
>2 weeks of moderate to severe depression, sleep or appetite disturbance, low energy, psychomotor changes, guilt, conc. difficulty, suicidal ideation
Antidepressants, psychotherapy
440
```
Postpartum psychosis -
Prevalence?
Onset?
Symptoms?
management?
```
0.1-0.2%
Variable: days to weeks
Delusions, hallucinations, thought disorganisation, bizarre behaviours
Antipsychotics, antidepressants, mood stabilisers
441
Onset following viral illness
Painful thyroid enlargement
Transient hyperthyroid symptoms
Increased ESR and CRP and reduced radioiodine uptake
Diagnosis?
Pathology?
Subacute granulomatous thyroiditis
Inflammatory infiltrate with macrophages and giant cells
442
Autoimmune etiology
Painless thyroid enlargement
Predominant hypothyroid features
Positive TPO antibody
Variable radioiodine uptake
Diagnosis?
Pathology?
Hashimoto thyroiditis
Lymphocytic infiltrate with well-developed germinal centers
```
Lymphocytic infiltrate with well-developed germinal centers
Hurthle cells (eosinophilic epithelial cells)
```
443
```
Acetazolamide -
Type of drug?
Mechanism of action?
Indications?
Side effects?
```
Carbonic anhydrase inhibitior diuretic
Inhibiting carbonic anhydrase blocks HCO3 reabsorption in proximal tubules leads to water excretion and increased pH
Open and close angle glaucoma
Somnolence, paresthesias and urine alkalinization
(Rare include metabolic acidosis, dehydration, hypokalemia and hyponatremia)
444
```
Adverse effects of mood stabilisers in bipolar disorder -
Lithium
Valproate
carbamazepine
Lamotrigine
```
Diabetes insipidus, hypothyroid, tremor, ebstein anomaly
Hepatotoxicity, NTD
Aplastic anemia, SIADH, NTDs
Benign rash, Stevens johnson syndrome
445
MHC class I -
Structure?
Antigen presenting results in?
Heavy chain and B2-microglobulin
Apoptosis of the presenting cell
446
MHC class II -
Structure?
Antigen presenting results in?
Alpha and beta polypeptide chains
Activation of TH cells which stimulate the humoral and cell-meadiated immune responses
447
Cystic fibrosis -
Transmembrane protein?
Associated GI disorder?
CF transmembrane conductance regulator protein
Impaired post-translational processing
ATP-gated
Meconium ileus
448
Lung abscess -
Presentation?
CXR?
Formation?
Several days of fever, cough, copious sputum
Cavitation with air fluid level
Neutrophils recruitment and activation leading to release of cytotoxic granules that kill bacteria but can also cause liquefying necrosis of surrounding tissues
449
AV node location in the heart?
Septal leaflet of tricuspid valve and the orifice of the coronary sinus
450
4 year old boy is brought in due to headaches that have worsened over the past month and are most severe when lying down. He also had non bloody, non bilous emesis for the past 2 weeks that typically occurs early in the morning. The child has intermittent blurry vision especially when looking up at mirror while brushing his teeth. Physical exam shows bilateral papilledema, inability to gaze upwards and bilateral eyelid retraction. Lab testing of sodium, GH, LH and FSH are normal.
Diagnosis?
Reasoning?
Pathology
Pineal gland mass
```
Obstructive hydrocephals (papilledema, headache and vomiting)
Dorsal midbrain (Parinaud) syndrome - limitation of upward gaze, bilateral eyelid retraction and light near dissociation
```
Germinoma - midline malignant tumor that arises from embryonic germ cells
451
Oral candidiasis -
Epidemiology?
Management?
Young infants
Immunosuppressed patients
Asthma patients
Nystatin - polyene antifungal that binds to ergosterol moedcules in fungal cell membrane causing pores and leakage of contents
452
Bacteria from animal waste?
| Symptoms?
Coxiella burnetti - Q fever
Nonspecific febrile illness with fever lasting >10days, fatigue and myaligias. Sever debilitating headaches which are often retroorbital and associated with photophobia. Pneumonia (lobal consolidation on CXR)
453
```
Down syndrome comorbidities -
Neurology?
Cardiology?
GI?
Endocrine?
Hematology?
Rheumatology?
```
Intellectual disability, early-onset Alzheimer disease
Completele AV septal defect, VSD, ASD
Duodenal atresia, Hirschsprung disease
Hypothyroid, Type 1 DM, obesity
Acute lymphoblastic leukemia and acute myelogenous leukemia
Atlantoaxial instability
454
Ataxia telangiectasia -
Symptoms?
Gene?
Cerebellar ataxia, telangiectasias and increased risk of sinopulmonary infections
Ataxia telangiectasia Mutated gene (recessive) - responsible for DNA break repair
455
Achondroplasia -
Inheritance?
Gene?
Most common form of short-limbed dwarfism
Autosomal dominant
Gain-of-function mutation in the FGFR3 gene- germline mosaicism
456
Congenital rubella syndrome -
Characterized by?
Vaccination?
Microcephaly, mental retardation, cataracts (white pupils), deafness and PDA, peripheral pulmonic stenosis
Live attenuated vaccine
Children at 12-15 months and again from 4-6 years
457
3 main causes of HIV associated esophagitis?
Candida, CMV, HSV
458
HIV associated esophagitis -
Candida albicans
Endoscopic findings?
Microscopic findings?
Patches of adherent, grey/white pseudomembranes on erythematous mucosa
Yeast cells and pseudohyphae invading mucosal cells
459
HIV associated esophagitis -
HSV-1
Endoscopic findings?
Microscopic findings?
Small vesicles - punched out ulcers
Eosinophilic intranuclear inclusions (Cowdry type A) in the multinuclear squamous cells at ulcer margins
460
HIV associated esophagitis -
CMV
Endoscopic findings?
Microscopic findings?
Linear ulcerations
Intranuclear and cytoplasmic inclusions
461
Bone pain, fatigue, anemia, kidney disease, persistent back pain, constipation and hypercalcemia. Renal biopsy shows atrophic tubules, many of which contain large, obstructing waxy casts that stain intensely with eosin. Labs show normocytic anemia and monoclonal paraproteinemia (M-spike)
Multiple myeloma
462
```
Nephritic syndrome -
Features?
Most common cause in children?
When does it occur?
Hypersensitivity?
```
Heamturia, edema, HTN
Poststrep glomerlonephritis
2-4 weeks after a strep infection
Type III hypersensitivity reaction (from strains of group A beta-hemolytic Steptococcus)
463
Presence of S3 gallop?
Severe mitral regurgitation
464
Presence of S4?
Can be normal in healthy older adults or hypertrophic cardiomyopathy or concentric left ventricular hypertrophy (HTN/aortic stenosis)
465
Presence of mid systolic click?
Mitral valve prolapse
466
S2-to-opening snap time interval?
Mitral or tricuspid stenosis
467
Splitting of S2 accentuated by inspiration?
Normal
468
Stress-induced (takotsubo) cardiomyopathy -
Characterized by?
Cause?
Epidemiology?
Hypokinesis of the mid and apical segments and hyperkinesis of the basal segments of the LV resulting systolic dysfunction.
Surge of catecholamines due to physical or emotional stress
Postmenopausal women and resolves on its own with several weeks
469
43 year old man comes in due to SOB and fatigue, Over the last 2 weeks, his fatigue has been so profound that he has little energy to even get out of bed. He has no chills but has experienced recent weight gain and ankle swelling. No prior conditions and no meds. BP 168/94. he has bilateral lower extremity pitting edema limited to the ankles. Urinalysis reveals 2+ protein, WBC and RBC 75-100.
He undergoes a kidney biopsy that shows linear appearance.
Diagnosis?
Pathogenesis?
Light microscopy?
Anti-GBM disease (Goodpastures disease)
Anti-GBM antibodies target alpha 3 chain collagen type IV leading to complement deposition.
Crescent formation
470
Treatment of Wernicke encephalopathy?
IV thiamine followed by glucose infusion
471
Primary HSV-1 -
Protein responsible for retrograde axonal transport?
Protein responsible for anterograde axonal transport?
Dynein
Kinesin (Secretory vesicles in nerve terminals)
472
14 year old boy is brought in by his mother because she is worried that although tall, her son looks much younger than his peers and shows no signs of "masculinity." On physical exam, the boy has poorly developed secondary sexual characteristics. He is unable to distinguish smells but has good visual acuity.
Diagnosis?
Pathogenesis?
Genes?
Kallman syndrome
Absence of GnRH secretory neurons in the hypothalamus due to defective migration from the olfactory placode.
KAL-1 gene or FGF1 gene
473
Middle aged woman with sister who has Sjogren's syndrome. Has fatigue, itching and hepatomegaly. ALP is elevated and Antimicrobial antibody titres and positive.
Diagnosis?
Pathogenesis?
Primary biliary cholangitis
Chronic autoimmune liver disease characterised by destruction of small and mid-sized intrahepatic bile ducts with resulting cholestasis
474
Mycobacterium TB -
Pathogenesis?
Cells?
Sputum cultures?
CD4 T lymphocytes to release IFN-y which leads to macrophage activation and differentiation into epithelioid histiocytes
Horseshoe shaped, multinucleated Langhans giant cells (fused, activated macrophages)
Mycobacteria that appear as parallel chains (serpentine cords) - Cord factor is a primary virulence factor (it prevents macrophages from being bactericidal)
475
6 month old gilr brought in for a checkup. Mother states that her baby doesn't seem to be growing much despite her being fed as often as her previous children. Physical exam shows hepatomegaly, hypotonia, and height wand weight are below the 10th percentile. Lab studies shows hypoglycemia and ketoacidosis. Liver biopsy shows hepatic fibrosis without fat accumulation. Additionally there are abundant quantities of multibranched polysaccharide with abnormally short outer chains within the cytosol of the hepatocytes.
Diagnosis?
Pathogenesis?
Cori disease (glycogen storage disease Type II)
Debranching enzyme deficiency that leads to accumulation of glycogen with abnormally short outer chains.
476
6 year old boy brought in due to persistent facial ulcer for the past 2 months. His mother reports extreme sensitivity to sunlight and has developed freckles on his face, neck and limbs since infancy. On physical exam the skin in sun exposed is dry and rough with numerous freckles and erythematous macules. There is an ulcerated plaque on the left face revealed to be squamous cell carcinoma.
Diagnosis?
Inheritance?
Pathogenesis?
Xeroderma pigmentosum
Autosomal recessive
Defects in nucleotide excision repair
DNA damaged by UV rays leads to thymine dimers that are normally repaired by Endonuclease but these enzymes are deficient in patients with XP.
477
```
6 year old is brought in because of short stature, low set ears, high arched aplate, webbed neck and cubitus valgus. Also has lymphedema and cystic hygroma behind the neck. 45 XO karyotype.
Diagnosis?
Pregnancy?
Management?
Underlying mechanism?
```
Turner syndrome
IVF but not their own egg
Treat with growth hormone that activates JAK-STAT
Meiotic nondisjunction
478
Alcohol withdrawal -
Symptoms?
Examination findings?
Tremors, agitation, anxiety, delirium, psychosis
Seizures, tachycardia, palpitations
479
Benzodiazepines -
Symptoms?
Examination findings?
Tremors, anxiety, perceptual distrubances, psychosis, insomnia
Seizures, tachycardia, palpitations
480
Heroin withdrawal -
Symptoms?
Examination findings?
Nausea, vomiting, abdominal cramping, diarrhea, muscle aches
Dilated pupils, yawning, piloerection, lacrimation, hyperactive bowel sounds
481
Stimulants (cocaine, amphetamines) withdrawal -
Symptoms?
Examination findings?
Increased appetite, hypersomnia, intense psychomotor retardation, severe depression
No significant findings
482
Nicotine withdrawal -
Symptoms?
Examination findings?
Dysphoria, irritability, anxiety, increased appetite
No significant findings
483
Cannabis withdrawal -
Symptoms?
Examination findings?
Irritability, anxiety depressed mood, insomnia, decreased appetite
No significant findings
484
Effect or acute ureteral constriction or obstruction on GFR and diltration fraction?
Decreases both
485
```
Acute Mitral regurgitation -
Preload?
Afterload?
Contractile fraction?
Ejection fraction?
Forward stroke volume?
```
```
Increased
Decreased
nochange
Increased
Decreased
```
486
```
Compensated chronic MR -
Preload?
Afterload?
Contractile function?
Ejection fraction?
Forward stroke volume?
```
```
Increased
No change
No change
Increased
No change
```
487
```
Decompensated chronic MR -
Preload?
Afterload?
Contractile function?
Ejection fraction?
Forward stroke volume?
```
```
Increased
Increased
Decreased
Decreased
Decreased
```
488
What cell are androgens and progesterones synthesised in?
Theca interna (LH influence)
489
What cell are androgens converted to estradiol?
Granulosa (FSH influence) with enzyme aromatase
490
Androgenetic alopecia (male-pattern hair loss)
Pathogenesis?
Management?
Follicular hair loss is strongly influenced by dihydrotestosterone which is produced by conversion from testosterone by 5-a reductase.
Finasteride (5a reductase inhibitor) decreases the conversion to DNT
491
Clavulanic acid, sulbactam and tazobactam -
What are they?
Concurrent admisitration with amoxicillin?
Beta lactamase inhibitors
Concurrent administration expands amoxicillin's spectrum of activity to include strains of B-lactamase synthesising bacteria that are resistant to amoxicillin alone.
492
First line treatment for acute gouty arthritis with recent history of peptic ulcer?
Mechanism?
Side effects?
Contraindications?
Treatment to prevent furthur attacks (prophylactically)?
Colchicine
Binds to the protein tubulin and inhibits its polymerization into microtubules. This disrupts cytoskeletal-dependent functions such as chemotaxis and phagocytosis.
Nausea, abdominal pain and diarrhea
Elderly or severe renal dysfunction
Xanthine oxidase inhibitors (allopurinol, febuxostat)
493
27 year old asian female came in with 3 month hx of fever, weight loss (5 kgs), myalgias and fatigue. She has also recently experiences leg pain with activity that resolves with rest. BP is 160/90 in the right arm and 120/80 in the left. A bruit is heard over left subclavian artery. Lest radial pulse and dorsalis pedis pulse in both legs are weak. hemoglobin is 9.8 and ESR is 110.
Diagnosis?
Pathogenesis?
Histopathology?
Takayasu arthritis (<50 yrs)
Chronic large artery vasculitis that primary involves the aorta and its branches.
Granulomatous inflammation of arterial media
Transmural fibrous thickening, narrowing of lumen
ESR elevated
Corticosteroids to treat
494
14;18 chromosomal translocation
Genes affected?
Diagnosis?
Bcl2 proto-oncogene causing overexpression. (It has anti apoptotic effects)
Follicular lymphoma, (Non hodgkin lymphoma of the cleaved and non cleaved B-lymphocytes of the follicular center.
495
Genes affected in reciprocal translocation between chromosome 9 and 22?
Diagnosis?
Bcr-abl hybrid (Philadelphia chromosome)
Chronic Myelogenous leukemia (CML)
496
64 year old man comes to the office with 4 weeks of progressive dyspnea. For several months, he has had a nonproductive cough and fatigue. The patient's medical conditions include degenerative joint disease and peptic ulcer disease. He smoked 2 packs of cigarettes daily for 38 years but quit 4 years ago. On examination, there are decreased breath sounds and percussive dullness at the base of the right lung. Chest CT scan reveals right sided pleural effusion and diffuse nodular thickening of the pleura. On thoracocentesis, bloody fluid is obtained. Pleural biopsy shows proliferation of epithelioid-type cells that are joined by desmosomes, contain abundant tonofilaments and are studded with very long microvilli.
Diagnosis?
Primary risk factors?
Mesothelioma - rare, malignant neoplasm
Asbestos
497
Increased phospholipid content in amniotic fluid determines?
```
Lung maturity (dipalmioyl phosphatidycholine)
>=2 is considered mature
```
498
Increased amniotic fluid bilirubin levels?
Erythroblastosis fetalis
499
Latanoprosy -
What is it?
Used for?
Mechanism of action?
Topical prostaglandin
Glaucoma
Increases outflow of aqueous humor
500
Open angle glaucoma -
Characterized by?
Fundoscopy?
Long term symptoms?
Increased intraocular pressure due to increased secretion or decreased outflow of aqueous humor
Type of optic neuropathy
Pale optic disk and enlarged optic cup
Peripheral visual fields
501
```
Zolpidem -
What is it?
Mechanism of action?
Used for?
Metabolisation?
```
Short acting hypnotic agent
Bind to GABAA and enhance inhibitory action of GABA on the CNS.
Short term insomnia
Not muscle relaxing, not used for anesthesia, less potential for addiction
502
Most common malignant hepatic lesion?
Metastasis from another site
503
21 year old woman gravida 1 para 0 comes to the office for a prenatal visit. She is at 16 weeks gestation. The patient lost 2.3 kg since her latest prenatal visit 4 weeks ago, has occasional nausea with vomiting once a week. No constipation or diarrhea and no dysuria, chills or fever. The patient has a little appetite and her food consumption has decreased. However she craves ice and consumes it throughout the day. She has prenatal vitamins. Doesn't take her iron for anemia. Does not use tobacco. Uterine fundus is consistent. Fetal HR is 140s.
Diagnosis?
Nutritional deficiencies?
Pica - compulsive consumption of a nonfood and/or non-staple food source for >1 month.
Iron, zinc
504
Collagen in mature scars?
Type 1
505
Tourette syndrome -
Clinical features?
Age of onset?
Treatment?
Both multiple motor AND >1 vocal tics for >1 year
(Motor - blinking, jerking, shrugging, sniffing ... Vocal - grunting, snorting, throat clearing, barking, yelling)
<18 yrs old
Behavioural therapy (habit reversal)
Antidopaminergic agents:
Tetrabenazine (dopamine depleter)
Antipsychotics (receptor blocker)
Alpha 2 adrenergic receptor agonists
506
Caspofungin -
Type of drug?
Mechanism of action?
Effectiveness?
Echinocandins - antifungals
Inhibit synthesis of the polysaccharide glucan, an essential component of the fungal cell wall
507
Renal biopsy reveals marked ballooning and vacuolar degeneration of proximal renal tubules; multiple oxalate crystals are observed in the tubular lumen.
Diagnosis?
Lab findings?
Ethylene glycol ingestion (antifreeze) causing acute tubular necrosis
High anion gap metabolic acidosis, increased osmolar gap
508
First trimester 22 year old immigrant from the middle-east comes in with low-grade fever, a maculopapular rash with cephalocauda progression and posterior auricular and suboccipital lymphadenopathy.
Diagnosis?
Risks to mother and effect on fetus?
Maternal rubella infection
Polyarthritis and polyarthralgia
Congenital rubella syndrome with sensorineural deafness, cataracts and cardiac malformations
509
```
34 year old comes in with several months of vision problems, difficulty chewing and trouble speaking. The symptoms fluctuate but they are worse after a long day. She works as a telemarketer and has been putting in incredibly long hours. An ice pack to her face helps. After staring at the ceiling for 2 minutes, her vision becomes blurry. Her symptoms are reversible on administration of an acetylcholinesterase inhibitor.
Diagnosis?
Mechanism?
Treatment?
Additional finding?
```
Myasthenia Gravis
Autoantibody-mediated, T-cell dependent attack on the acetylcholine receptors of the postsynaptic neuromuscular junction. (Over time leads to reduced numbers of AChRs)
Type II hypersensitivity
Pyridostigmine - Acetylcholinestease inhibitor
Edrophonium - myasthenic crises
Thymoma or thymic hyperlasia
510
Obstructive sleep apnea -
Pathophysiology?
Symptoms?
Sequelae?
Relaxation of pharyngeal muscles leads to closure of airway
Loud snoring with periods of apnea
Daytime somnolence
Non-restorative sleep wth frequent awakenings
Morning headaches
Affective & cognitive symptoms
Systemic HTN
Pulmonary HTN and right heart failure
511
Pancoast syndrome -
Location?
Symptoms?
Superior sulcus
Shoulder pain radiating toward axilla and scapula - paresthesia, weakness and muscle atrophy
Horner syndrome - Ipsilateral ptosis, miosis, anhydrosis
Spinal cord compression
512
Intraabdominal infections - most prominent organisms isolated?
B fragilis and E.coli
513
```
Sarcoidosis -
Epidemiology?
Clinical features?
Imaging?
Lab?
Pathology?
Treatment?
```
Young adults, African Americans
Constitutional symptoms
Cough, dyspnea and chest pain
Skin lesions, anterior/posterior uveitis, Lofgren syndrome
Bilateral hilar adenopathy
Pulmonary reticular infiltrates
Hypercalcemia and elevated serum ACE level
Biopsy showing noncaseating granulomas that stain negative for fungi and acid fast bacilli
CD4+ T-cell mediated diseases which release IFN-y and TNF-alpha to drive macrophage activation and granuloma formation
Oral glucocorticoids (prednisone)
514
```
55 year old man comes in for evaluation of chronic muscle weakness. The patient has had increasing difficulty walking up stairs and lately had noticed dificulty combing his hair and lifting objects overhead. On examination, the patient has symmetric proximal muscle weakness and mild muscle tenderness. There is no skin rash. Muscle biopsy reveals endomysial monocnuclear infiltrate and patchy muscle fiber necrosis.
Diagnosis?
Autoantibody?
Elevated enzymes?
Associated complications?
```
Polymyositis
ANA, anti-Jo-1 (anti-histidyl-tRNA synthetase)
CK, aldolase
Interstitial lung disease, myocarditis
515
IL-10 -
| Function?
Reduces proliferation of pro inflammatory cytokine (TH1 - IL2 and IFNy) and MHC class II expression. (anti-inflammatory)
Inhibits activated dendritic cells and macrophages.
516
Plasmodium falciparum -
| Key features?
Fever, icterus, splenomegaly and ring-shaped parasites with RBCs.
517
Isoniazid -
Mechanism of action?
Side effect?
Inhibits pyridoxine phosphokinase leading to pyridoxine (Vitamin B6) deficiency.
Inhibits mycolic acid synthesis
Sideroblastic anemia
Vit B6 deficiency
Hepatotoxicity
518
54-year-old man comes in with 2 months of progressive, generalised weakness and easy fatiguability. He also has abdo discomfort and early satiety. He works as a security advisor and has not travelled. He has pallor, abdominal distension and massive splenomegaly with the spleen tip crossing the midline. No peripheral lymphadenopathy. Peripheral blood cell count shows pancytopenia. Bone marrow aspiration is attempted but no marrow is aspirated.
Diagnosis?
Microbiology?
Tests?
Hairy cell leukemia (an indolent B-cell neoplasm)
Usually diagnosed in middle aged men
Lymphocytes with cytoplasmic projections
Bone marrow biopsy (dry tap), Flow cytometry
519
```
Firm erythematous pre/postauricular swelling. Trismus (lockjaw), dysphagia, systemic findings - fever chills
Diagnosis?
Risk factors?
Microbiology?
Tests?
```
Parotitis
Decreased salivary flow due to:
Medications - anticholinergic
Obstruction - calculi, neoplasm
Dehydration, post surgical
Staph aureus, anaerobes
Imaging - ductal inflammation/onstruction, frank abscess
Elevated serum amylase but normal lipase (no pancreatitis)
520
3 year old boy who recently immigrated to the US is brought to the physician by his parents because he has not yet begun to walk or speak. Severe intellectual disability. He died 6 months later from refractory seizures resulting in respiratory failure. Autopsy shows pallor of the substantia nigra, locus ceruleus and vagal nucleus dorsalis.
Diagnosis?
Pathogenesis?
Phenylketonuria
Inability to convert phenylalanine into tyrosine (normally catalyzed by phenylalanine hydroxylase.
521
3 conditions aspergillosis causes?
Invasive aspergillosis develops in immunosuppressed patients
Aspergillomas (fungal balls) in old lung cavities
Allergic bronchopulmonary aspergillosis in patients with asthma and wheezing
522
Hyperacute rejection in transplanted organ -
Type of hypersensitivity?
Examples?
Type II hypersensitivity (occurs due to anti-donor antibodies)
anti-ABO and anti-HLA antibodies
523
Lymphatic channels drainage -
Proximal to anal dentate line?
Distal to anal dentate line?
From superior rectal nodes to inferior mesenteric and internal iliac lymph nodes
Drain into the inguinal nodes
524
Effect of carotid sinus massage?
| What is it used for?
Increased vagal parasympathetic tone
Slows conduction through the AV node and prolongs AV node refractory period
Termination of paroxysmal supraventricular tachycardia
525
4-year-old boy is brought to the office due to skin lesions on his face for the past 2 days. There are tender perioral papules and pustules some of which appear to have broken down and are covered with golden yellow crusts. Exudate microscopy reveals gram-positive cocci in chains.
Diagnosis?
Microbiology?
Treatment?
Complications?
Impetigo
Staph aureus or Group A strep (Strep pyogenes)
Topical antibiotics (mupirocin)
Poststreptococcal glomerulonephritis (facial edema and dark urine)
526
Transference vs countertransference?
Transference is the patient's reaction to the provider whereas countertransference refers to the provider's reaction to the patient
527
38-year-old man comes to the ED because he is vomiting blood. After the appropriate resus, he undergoes upper GI endoscopy which reveals a bleeding duodenal ulcer. During day 2, the patient develops decreased urine output. Serum Cr rises to 3 (from baseline of 1.2). Renal biopsy shows patchy epithelial necrosis of the tubules, tubulorrhexis and intratubular casts. On day 8, urine output significantly increases and serum Cr levels decline.
Diagnosis?
What is complication the patient at the highest risk for?
Most vulnerable segments of the nephron?
Nephrotoxins that can cause ATN?
Acute tubular necrosis
Electrolyte wasting - decreased potassium, magnesium, phosphorus, calcium
Proximal tubule and thick ascending loop of the loop of Henle
Antibiotics - aminoglycosides (gentamicin), vancomycin
Antivirals - Cidofovir, foscarnet
Other - IV radiocontract dye, cisplatin, heme pigment
528
What bacteria can cause hepatic abscesses and how?
Staph aureus via hematogenous seeding from the liver
Enteric bacteria (E. Coli, Klebsiella and enterococci) - by ascending the biliary tract
529
Urinary leakage with coughing, lifting and/or sneezing.
Type of incontinence?
Etiology?
Stress incontinence
Decreased urethral sphincter tone
Urethral hypermobility
530
Sudden, overwhelming urge to urinate that cannot be held in.
Type of incontinence?
Etiology?
Urge incontinence
Detrusor hyperactivity
531
Incomplete emptying and persistent involuntary dribbling of urine (constant).
Type of incontinence?
Etiology?
Overflow incontinence
Incomplete emptying and persistent involuntary dribbling
532
5 year old boy is brought to the ED due to 2 days of dark, low-volume urine and decreased energy. The parents say the boy had abdo pain, fever and bloody diarrhea for 4 days which resolved 3 days ago without treatment. The day before onset of symptoms, the patient swam in a lake and ate hamburgers at the family picnic. Lab evaluation shows anemia, thrombocytopenia and elevated BUN and serum Cr.
Diagnosis?
Etiology?
Contamination?
Hemolytic uremic syndrome
Shiga toxin producing bacteria:
E Coli O157:H7
Shigella
Contaminated undercooked beef
Person-person contact
Fruits and vege contaminated with manure
533
Oseltamivir -
Type of drug?
Mechanism of action?
Used for?
Neuraminidase inhibitor
Sialic acid analogue that inhibits the neuraminidases.
Newly synthesised virions to adhere to the host cell surface and form viral aggregates to reduce the spread of virus to other hose cells. (Virion particle release)
Treatment of both influenza A and B virus infections
534
Ddx for patient with hypertension and hypokalemia with increased renin and increased aldosterone.
```
Secondary hyperaldosteronism:
Renovascular HTN
malignant HTN
Renin-secreting tumor
Diuretic use
```
535
Ddx for patient with hypertension and hypokalemia with decreased renin and increased aldosterone.
Primary hyperaldosteronism:
Aldosterone-producing tumor
Bilateral adrenal hyperplasia
536
Ddx for patient with hypertension and hypokalemia with decreased renin and decreased aldosterone..
```
Non-aldosterone causes:
Congenital adrenal hyperplasia
Deoxycorticosterone-producing adrenal tumor
Cushing syndrome
Exogenous mineralocorticoids
```
537
```
Tenofovir, emtricitabine, lamivudine, abacavir, zidovudine -
Type of drug?
Mechanism of action?
Side effects?
Hypersensitivity?
```
NRTI
Inhibits HIV DNA synthesis from RNA template by terminating DNA chain elongation
Competitive nucleoside/nucleotide RT inhibitor
Bone marrow toxicity --> anemia
Abacavir hypersensitivity reaction - HLA-B*57:01 allele (Type IV reaction)
538
Efavirenz, nevirapine -
Type of drug?
Mechanism of action?
NNRTI
Inhibits HIV DNA synthesis from RNA template by terminating DNA chain elongation
Allosteric RT inhibitor
539
Atazanavir, darunavir, indinavir, ritonavir -
Type of drug?
Mechanism of action?
Adverse effects?
Protease inhibitor
Inhibits HIV polyprotein cleavage
Lipodystrophy
Hyperglycemia
Inhibition of cytochrome P450
540
Dolutegravir, raltegravir -
Type of drug?
Mechanism of action?
Integrase inhibitor
Inhibits HIV DNA integration into host genome
541
Enfuvirtide -
Type of drug?
Mechanism of action?
Fusion inhibitor
Inhibits HIV fusion with target cell membrane by binding HIV gp41
542
Maraviroc -
Type of drug?
Mechanism of action?
Chemokine receptor 5 antagonist
Inhibits HIV entry by blocking the HIV gp120allosteric interaction with CCR5
543
Hyaline urinary casts associated conditions?
Non specific, concentrated urine (Tamm-Horsfall protein)
544
Fatty urinary casts associated conditions?
Nephrotic syndrome (lipid droplets)
545
Waxy urinary casts associated conditions?
Chronic kidney disease (degenerated hyaline cast)
546
Granular (muddy brown) urinary casts associated conditions?
Acute tubular necrosis (Sloughed tubular epithelial cells with pigmented granules)
547
WBC urinary casts associated conditions?
Pyelonephritis, interstitial nephritis
548
RBC urinary casts associated conditions?
Glomerulonephritis
549
Gram positive, catalase positive, coagulase positive?
Staph aureus
550
Gram positive, catalase positive, coagulase negative, novobiocin sensitive?
Cause?
Staph epidermis
Prosthetic valve endocarditis
Catheter related infections
Prosthetic joint septic arthritis
551
Gram positive, catalase positive, coagulase negative, novobiocin resistance?
Cause?
Staph Saprophyticus
UTI in sexually active young women
552
Nasal congestion, discharge, sneezing, cough and sore throat in children.
Clinical illness?
Common etiologic agent?
Nasopharyngitis (common cold)
Rhinovirus, influenza virus, coronavirus
553
URT symptoms followed by hoarseness, barking cough, stridor and respiratory distress in children.
Clinical illness?
Common etiologic agent?
Laryngotracheitis (croup)
Parainfluenza virus
554
Sore throat, cervical lymphadenopathy, coalescing pseudomembrane in children.
Clinical illness?
Common etiologic agent?
Diphtheria
Corynebacterium diphtheriae
555
Sore throat, dysphagia, drooling and respiratory distress in children.
Clinical illness?
Common etiologic agent?
Epiglottitis
Haemophilus influenzae
556
Upper respiratory tract symptoms followed by wheezing, cough and respiratory distress in children.
Clinical illness?
Common etiologic agent?
Bronchiolitis
Respiratory syncytial virus
557
6 month old is brought to to the clinic. No illnesses though she has had trouble latching when breastfeeding. She can roll over when prone but cannot roll from supine position or sit unsupported. Head has head circumference above the 97th percentile and has a full anterior fontanelle. Spasticity & hyperreflexia. At birth the head was at 50th percentile. CT reveals significant dilation of the lateral ventricles.
Diagnosis?
Causes?
Treatment?
Congenital hydrocephalus
Congenital obstruction - aqueductal stenosis, Chiari malformation
Acquired obstruction - congenital infection, posthemorrhagic
Cerebral shunting
558
What vitamin does isoniazid compete with?
Pyridoxine
| Vitamin B6
559
Stroke volume formula?
End diastolic volume(EDV) - End systolic volume(ESV)
560
Ejection fraction formula?
Stroke volume/End diastolic volume
561
Biopsy of Hashimoto thyroiditis?
| Epidemiology?
Intense mononuclear infiltrate consisting of lymphocytes and plasma cells, often with germinal centers. Residual follicles are often surrounded by Hurthle cells (large oxyphilic cells filled with granular cytoplasm)
Peak incidence around 45-65 in women
562
What is derived from the first pharyngeal pouch?
Epithelium of middle ear and auditory tube
563
What is derived from the second pharyngeal pouch?
Epithelium of palatine tonsil crypts
564
What is derived from the third pharyngeal pouch?
Thymus, inferior parathyroid glands
565
What is derived from the fourth pharyngeal pouch?
Superior parathyroid glands, ultimobranchial body
566
Amiodarone -
Type of drug?
Mechanism of action?
Used for?
Class III antiarrhythmic drug
Inhibit potassium channels (phase 3 of action potential)
Low risk of QT prolongation
Supra and ventricular arrhythmias
567
Lidocaine -
Type of drug?
Mechanism of action?
Used for?
Class IB antiarrhythmic drug
Inhibits sodium-dependent (phase 0) depolarisation
Ischemia-induced ventricular arrhythmias
568
Procainamide -
Type of drug?
Mechanism of action?
Class IA antiarrhythmic drug
Inhibits sodium-dependent (phase 0) depolarisation
Increased risk of torsades de pointes
569
Verapamil -
Type of drug?
Mechanism of action?
Class IV antiarrhythmic drug
| Cardio-selective calcium channel blocker
slows sinus rate and prolongs PR interval
570
Thin, blood-tinged discharge expressed from nipple.
Most likely diagnosis?
Histopathology?
Intraductal papilloma
Proliferation of papillary cells with fibrovascular core
571
Eczematous exudate?
Paget disease of nipple
572
Hernia that travels lateral to inferior epigastric vessels.
Type?
Classic presentation?
Anatomy?
Indirect inguinal
Male Infants
Patent processus vaginalis
Content protrudes through deep inguinal ring
573
Hernia that travels media to inferior epigastric vessels.
Type?
Classic presentation?
Anatomy?
Direct inguinal
Older man
Weakness of transversalis fascia
Content protrudes through hesselbach triangle
574
Hernia that travels inferior to inguinal ligament.
Type?
Classic presentation?
Anatomy?
Femoral
Women
Weakness of proximal femoral canal
Content protrudes through femoral ring
575
Language milestone at age 2.
Vocabulary 50-200 words
| Be able to use 2 word phrases
576
What is tardive dyskinesia?
| Drugs that are associated with it?
Repetitive, rhythmic, involuntary movements of the tongue, lips, face, trunk and extremities.
Dopamine antagonist medications - antipsychotics, metoclopramide
577
Oculomotor nerve - eye muscles innervated?
| Lesion?
```
Superior rectus
Medial rectus
Inferior rectus
Inferior oblique
Levator palpebrae superioris
```
Eye deviates down and laterally
Dilation of pupil
Loss of accommodation
Ptosis
578
Trochlear nerve - eye muscles innervated?
| Lesion?
Superior oblique
Eye devaited upwards
Vertical and torsional diplopia
579
Abducens nerve - eye muscles innervated?
| Lesion?
Lateral rectus
Eye deviated medially
Horizontal diplopia
580
Primary hyperthyroidism -
Treatment?
Mechanism of action?
Thioamide drugs - methimazole and propylthiouracil
Inhibit thyroid peroxidase (enzyme responsible for both iodine organification and coupling of iodotyrosines.
581
28 year old woman brought to ED due to abrupt onset of high fever, severe headache, photophobia and confusion. Temperature 38.9, BP is 90/60 and pulse 118/min. The patient is obtunded and diaphoretic. Increased resistance to passive neck flexion. Pupillary reflexes are brisk and symmetric. LP shows neutrophilic pleocytosis, elevated protein and low glucose. Wet mount shows motile trophozoites.
Diagnosis?
Pathophysiology?
Management?
Primary amoebic encephalitis
Infection with Naegleria fowleri (free-living, motile protozoan)
Exposure during recreational water activities
Mucosal invasion
Nearly all cases are fatal
Antibiotics (amphotericin B)
582
Risk factors of rhabdomyolysis?
| Lab findings - Cr, K, P, Ca
Crush injury
Prolonged muscle activity (eg seizure, marathon running)
Drug/medication use (eg statins, amphetamines, heroin)
Increased Cr, increased K, increased P, decreased Ca
583
Most common cause of community-acquired pneumonia in HIV-infected individuals?
Streptococcus pneumonia
584
Stages of grief
```
Denial
Anger
Bargaining
Depression
Acceptance
```
585
7 year old boy brought to ED for abdo pain and arthralgias. he had a cough and runny nose last week but otherwise in good health. Physical exam shows palpable purpura over his buttocks and thighs. Auscultation of the lung and heart is normal. Abdomen is diffusely tender to palpation without rebound or guarding. Both knees are tender but not warm or swollen. A stool occult blood test is positive.
Urinalysis: Protein 2+, Blood moderate, RBCs many, RBC casts
Diagnosis?
Pathogenesis?
Lab?
Presentation?
Henoch-Schonlein purpura
IgA immune complex mediated vasculitis (follows upper resp or other infections)
Confirmed by skin biopsy showing IgA deposition in blood vessels.
Palpable purpura on buttocks and legs
GI pain and bleeding
Haematuria (IgA nephropathy)
Occurs after URTI
586
Topoisomerase II (DNA gyrase) function?
Removal of supercoils
587
15 year old boy is brought to ED due to hemoptysis. He has a hx of amputation of the right lower extremity for bone cancer in Mexico. Chest imaging reveals a lung mass. Excisional biopsy of the mass shows sheets of uniform, small (slightly larger than lymphocytes), round cells with scant, clear cytoplasm. The cellular deposits are interrupted by vascular fibrous septae, with areas of haemorrhage and an abrupt transition from viable to necrotic cells.
Diagnosis?
Epidemiology?
Ewing sarcoma
Mesenchymal stem cell neoplasm
Primarily seen in children/young adults
Site of origin - long bones, axial skeleton, pelvis
588
HPV in the throat - what does it infect?
True vocal cords (Stratified squamous epithelium like the anal canal, vagina and cervix)
589
Internuclear ophthalmoplegia -
| Pathogenesis?
Disorder of conjugate horizontal gaze resulting from damage to heavily-myelinated fibers of the medial longitudinal fasciculus.
590
E Coli virulence factor - Lipopolysaccharide
Mechanism?
Presentation?
Macrophage activation causes widespread release of IL-1, IL-6 and TNF-a
Bacteriemia and septic shock
591
E Coli virulence factor - K1 capsular polysaccharide
Mechanism?
Presentation?
Prevents phagocytosis and complement mediated lysis
Neonatal meningitis
592
E Coli virulence factor - Verotoxin (shiga-like toxin)
Mechanism?
Presentation?
Inactivates 60S ribosomal component, halting protein synthesis and causing cell death
Gastroenteritis (bloody)
593
E Coli virulence factor - Heat stable/ heat labile exotoxins
Mechanism?
Presentation?
Promotes fluid and electrolyte secretion from intestinal epithelium
Gastroenteritis (watery)
594
E Coli virulence factor - P fimbriae
Mechanism?
Presentation?
Allows adhesion to uroepithelium
UTI
595
Adverse effect of permanent pacemaker?
Tricuspid regurgitation
596
Presentation of severe tricuspid regurgitation?
Right heart failure. Distended jugular veins, pulsatile and tender hepatomegaly, abdo distension with ascites and lower extremity edema.
597
Locus ceruleus -
Location?
Functions?
Posterior rostral pons near the lateral floor of the 4th ventricle
Norepinephrine synthesis (control of mood, arousal, sleep-wake cycles, cognition)
598
```
Neuroleptic malignant syndrome -
Time line?
Distinct features?
Precipitant?
Treatment?
```
1-3 days
Diffuse rigidity, hyporeflexia
Dopamine antagonist
Benzos and dantrolene
Dantrolene - inhibition of calcium ion release from sarcoplasmic reticulum of skeletal muscle
599
Milrinone -
Type of drug?
Mechanism of action?
Used for?
Phosphodiesterase-3 enzyme inhibitor
Inhibition of cAMP degradation via milrinone causing positive inotropy and vasodilation (reduced preload and afterload)
600
Causes of erectile dysfunction
```
Psychogenic stressors
Performance anxiety or depression
Medications (SSRIs)
Vascular or neurological
Trauma (prostatectomy)
```
601
```
Amyloid precursor protein gene -
What chromosome is it located on?
Stained with Congo red?
Effect?
Biochemical abnormalities?
Other mutation sites?
```
Chromosome 21
Viewed under polarised light, characteristic apple-green birefringence due to beta-sheet structure
Alzheimer dementia
Decreased acetylcholine levels in the hippocampus and nucleus basalis of Meynert
Presenilin 1 gene on chromosome 14
Presenilin 2 gene on chromosome 1
602
Labetalol -
Type of drug?
Used for?
Reversible, competitive antagonist a1 and b adrenergic receptos
HTN
603
Phentolamine -
Type of drug?
Used for?
Reversible, competitive a-adrenergic antagonist
Management of catecholamine- induced HTN crises
604
Hep B genome replicative process?
Double-stranded DNA --> + RNA template --> partially double-stranded DNA progeny
605
Hypoplasia/absence of cerebellar vermis and cystic dilation of the 4th ventricle with posterior fossa enlargement of axial MRI. Presented with developmental delay and progressive skull enlargement.
Diagnosis?
Dandy-Walker malformation
606
```
Epidural hematoma -
Location?
Blood vessel involved?
Clinical manifestation?
Presentation on CT scan?
```
Between skull bone and dura
Middle meningeal artery
Lucid interval followed by LOC
Biconvex hematoma
607
```
Subdural hematoma -
Blood vessel?
Location?
Clinical manifestation?
Presentation on CT scan?
```
Bridging cortical veins
Between the dura and arachnoid
Gradual onset of headache and confusion
Crescent-shaped hematoma
608
```
Subarachnoid hemorrhage -
Blood vessel?
Location?
Clinical manifestation?
Presentation on CT scan?
```
Aneurysm or AV malformation of anterior and posterior communicating arteries
between the arachnoid and pia mater
Severe headache (worst of my life), fever, nuchal rigidity
Blood in basal cisterns
609
Function of supraspinatus
Abduction
610
Function of infraspinatus
External rotation
611
Function of teres minor
Adduction and external rotation
612
Function of Subscapularis
Adduction and internal rotation
613
Sickle cell anemia mutation?
| Clinical features?
Point mutation in the 6th codon of the beta-globin gene which causes the substitution of valine for glutamic acid.
Exertional dyspnea, pneumonia causing ACS and recurrent abdo and bone pain
614
2 year old boy is being evaluated for failure to thrive and developmental delay. His past medical hx is significant for recurrent ear infections since 6 months old. Physical examination shows coarse facial features, corneal clouding, hepatosplenomegaly and restricted joint mobility. Mass spectrometry analysis is performed on cultured fibroblasts and reveals deficient phosphorylation of mannose residues on certain glycoproteins in Golgi apparatus.
Diagnosis?
Inclusion cell disease, an autosomal recessive lysosomal storage disorder.
615
Superior orbital fissure -
| Traveling structures?
CN III, IV, V1, VI, ophthalmic vein, sympathetic
616
Optic canal -
| Traveling structures?
CN II, ophthalmic artery, central retinal vein
617
Foramen rotundum -
| Traveling structures?
CN V2 (maxillary)
618
Foramen ovale -
| Traveling structures?
CN V3 (mandibular)
619
Foramen spinosum -
| Traveling structures?
Middle meningeal artery and vein.
620
Internal acoustic meatus -
| Traveling structures?
CN VII, VIII
621
Jugular foramen -
| Traveling structures?
CN IX, X, XI, Jugular vein
622
Hypoglossal canal -
| Traveling structures?
CN XII
623
Foramen magnum -
| Traveling structures?
Spinal roots of CN XI, brain stem
624
13 month old girl. She used to sit on her own and loved babbling and clapping her hands. She still plays with her sisters and likes snuggles however for the past 3 months she hasn't babbled as much and she can no longer sit up by herself. She keeps twisting her hands together. The skin on her hands is getting red, dry and painful. Weight and height are 60th percentile but head growth has decreased for 50th to 40th percentile in 3 months. She is globally hypotonic and unable to sit upright without being held. She makes no sound apart from an occasional grunt. She shows an interest in tows but doesn't reach out for them.
Diagnosis?
Linked to?
Other features?
Rett syndrome
De novo mutations in the X-linked MECP2 gene.
Seizures, intellectual disability, autistic features, and breathing issues.
625
Chlorpromazine, Thioridazine -
Type of drug?
Side effect?
Low potency 1st gen anti-psychotics
```
Sedation
Anticholinergic (constipation, dry mouth, urinary retention)
Orthostatic hypotension (and dizziness)
```
626
Haloperidol, Fluphenazine -
Type of drug?
Side effect?
High potency 1st gen antipsychotics
Extrapyramidal symptoms:
Acute dystonia
Akathisia
Parkinsonism (rigidity)
627
Early neonatal sepsis
Lab shows:
Narrow zone of beta-hemolysis on blood agar
Production of CAMP factor
Diagnosis?
Group B strep (Streptococcus agalactiae) - coagulase negative
628
Alpha 1 Receptor -
Target organ
Effect of stimulation
Example
Peripheral vascular - Increased SBP (decreases pulse pressure, decreases HR)
Bladder - Contraction of internal urethral sphincter
Eye - Mydriasis
Epinephrine
NE
Phenylephrine
Methoxamine
629
Beta 1 Receptor -
Target organ
Effect of stimulation
Example
Heart - Increased HR, contractility and conductance
Epinephrine
Dopamine
Dobutamine
Isoproterenol
630
Beta 2 Receptor -
Target organ
Effect of stimulation
Example
Peripheral vasculature (skeltal muscle) - vasodilatation, decreased DBP
Bronchi - bronchodilatation
Uterus - Relaxation (tocolysis)
Isoproterenol
Terbutaline
Ritodrine
631
What is DRESS syndrome?
| Associated drugs?
Drug reaction with eosinophilia and systemic symptoms
2-8 weeks after drug exposure
Anticonvulsants (phenytoin, carbamazepine), allopurinol, sulfonamides and antibiotics (minocycline, vancomycin)
632
Gram positive cocci, catalase negative, alpha hemolytic, optochin resistant, bile insoluble?
Viridans streptococci
Dental caries
SBE after dental work
633
62 year old man comes in with watery diarrhea. He has also been having episodes of dyspnea and wheezing. His wife noticed sometimes he gets very flushed and red. The patient has no abdo pain, vomiting, cough or fever. He has a hx of HTN and takes amlodipine. Abdo CT reveals mass lesions in the right liver lobe and ileum. Surgery is scheduled to resect the tumor.
Diagnosis?
Tests?
Treatment?
Carcinoid syndrome
Elevated 24-hour urinary excretion of 5-HIAA
CT/MRI of abdo pelvis
Ocreotide for symptomatic patients
634
Gastrin -
Actions?
Secretion site?
Increased gastric H+ secretion
G cells (gastric antrum, duodenum)
635
Somatostatin -
Actions?
Secretion site?
Decreased secretion of GI hormones
D cells (pancreatic islets and gut mucosa)
636
CCK -
Actions?
Secretion site?
Increased pancreatic enzyme and HCO3 secretion
I cells (SI)
637
Secretin -
Actions?
Secretion site?
Increased pancreatic HCO3 secretion
Decreased gastric H secretion
S cells (SI)
638
GIP -
Actions?
Secretion site?
Increased insulin release
Decreased gastric H secretion
K cells (SI)
639
Motilin -
Actions?
Secretion site?
Increased GI motility
M cells (SI)
640
Normal aging of the heart?
Decreased left ventricular chamber size
Sigmoid shape septum
Atrophy of myocardium --> increased interstitial connective tissue
progressive accumulatin of cytoplasmic granules containing brownish lipofuscin pigment
641
45 year old woman comes into the office due to unintentional loss of 6.8 kg over the past 6 months. She used to enjoy dining with her friends but has become concerned about lower abdo pressure and feeling full very quickly. She also has epigastric pain but no dysphagia, regurg, vomiting or diarrhea. Physical exam shows bilateral adnexal fullness. USS shows bilateral complex ovarian masses with solid and ovarian masses.
Diagnosis?
Histology?
Krukenberg tumour, a primary gastric cancer that has metastisized.
Nests of signet ring cells. Mucin displacing nucleus.
642
```
Lowering cutoff of diagnostic test:
False positive
False negatives
Sensitivity
PPV
Specificity
```
```
Reduced false negatives
Increased false positives
Decreased true negatives
Increased true negatives
Increased sensitivity
Decreased specificity
PPV - not changed
```
643
Cytochrome P450 inducers
```
Carbamazepine
Cyclophosphamide
Rifampin
Alcohol (chronic)
Modafinil
```
Griseofulvin
Phenytoin
St John Wort
644
Cytochrome P450 inhibitors
Sulfonamides
Isoniazid
Cimetidine, ciprofloxacin
Ketoconazole
```
Fluroquinolones
Amiodarone/azole antifungals (acute)
Clarithromycin
Ethanol (acute), erythromycin
Ritonavir (protease inhibitor)
```
645
Isoniazid -
Mechanism?
Enzyme?
Inhibition of mycolic acid synthesis
Mycobacterial catalase peroxidase
646
```
36 year old with panacinar emphysema, basilar lung areas predominantly affected, smoking accelerates disease, associated liver dysfunction or cirrhosis.
Diagnosis?
Pathogenesis of emphysema?
Testing?
Inheritance?
```
Alpha-1 antitrypsin deficiency
Due to unchecked destruction of the interalveolar septa
Decreased FEV1/FVC ratio, decreased DLCO
Decreased serum a-1 antitrypsin deficiency
Autosomal codominant
647
Gram positive, catalase negative, gamma hemolytic (no hemolysis), grown in bile and PYR-positive
Enterococci
IE after GU procedures
UTI
Wound infection
648
Gram positive, catalase negative, gamma hemolytic (no hemolysis), grown in bile and PYR-negative
Streptococcus gallolyticus
Bacteremia/IE associated with colonic cancer
649
Bcl-2 protein function?
Inhibits apoptosis of tumour cells, thereby facilitating neoplastic growth.
650
Lymph from superior portion of the bladder drains to?
| Lymph from inferior portion of the bladder drains to?
External iliac nodes
Internal iliac nodes
651
Lymph from the prostate drains to?
Internal iliac nodes
652
Lymph from testes drains to?
Para-aortic lymph nodes
653
Lymph from the upper third of the rectum drains to?
Inferior mesenteric lymph nodes
654
```
Multiple and deep ulcers
Base may have gray to yellow exudate
Organisms often clump in long parallel strands
Painful initially
Disease?
Causative agent?
```
Chancroid
Haemophilus decreyi
655
```
Multiple, small, grouped ulcers
Shallow with erythematous base
Multinucleated giant cells and intranuclear inclusions (Cowdry type A)
Painful initially
Disease?
Causative agent?
```
Genital herpes
herpes simplex virus 1&2
656
Extensive and progressive ulcerative lesions without lymphadenopathy
Base may have granulation-like tissue
Deeply staining gram-negative intracytoplasmic cysts (Donovan bodies)
Not painful initially
Disease?
Causative agent?
Granuloma inguinale (donovanosis)
Klebsiella granulomatis
657
Single, indurated, well-circumscribed ulcer
Clean base
Thin, delicate, corkscrew-shaped organisms on dark-field microscopy
Not painful initially
Disease?
Causative agent?
Syphilis
Treponema pallidum
658
Small and shallow ulcers
Large, painful, coalesced inguinal lymph nodes (buboes)
Intracytoplasmic chlamydial inclusion bodies in epithelial cells and leukocytes
Not painful initially
Disease?
Causative agent?
Lymphogranuloma venereum
Chlamydia trachomatis
659
3 year old girl is brought to ED with abrupt-onset vomiting followed by frequent, large-volume, watery diarrhea. She has not received vaccinations. Mild dehydration and the abdomen is soft and mildly tender. Bowel sounds are increased. PCR testing yields a virus with a segmented, double-stranded RNA genome.
Diagnosis?
Lab testing?
Rotavirus
Blunting of the villi in the duodenum and proximal jejunum
660
Triangle-508
What is it?
Effect?
Disease?
The most common CFTR gene mutation
This deletion causes abnormal protein folding and failure of glycosylation. The CFTR protein is then targeted for degradation by the proteasome causing an almost complete absence from the apical membrane
Cystic fibrosis
661
34 year old comes to the office due to white plaques on his buccal mucosa. He was found to be HIV positive with CD4+ count of 280/mm3. He was noncompliant. The patient returns 3 years later due to several months of pain and itching in the perirectal area.He also has intermittent rectal bleeding and often sees bright red block on the tissue after wiping. Its a single hard mass with superficial ulceration about 2x2cm in the anal canal. No palpable lymphadenopathy.
Diagnosis?
Linked to?
Anal squamous cell carcinoma
Human papillomavirus
662
Ashkenazi Jewish couple asking about autosomal recessive disorder of sphingomyelinase deficiency.
Diagnosis?
Key features?
Neimann-Pick
Macular cherry-red spot
Progressive neurodegeneration
Hepatosplenomegaly
663
Ashkenazi Jewish couple asking about autosomal recessive disorder of beta-hexosaminidase deficiency.
Diagnosis?
Accumulated substrate?
Key features?
Tay-Sachs
GM2 (ganglioside)
Macular cherry-red spot surrounded by white macule
Progressive neurodegeneration
664
Ashkenazi Jewish couple asking about autosomal recessive disorder of beta-glucocerebrosidase deficiency.
Diagnosis?
Accumulated substrate?
Key features?
Gaucher
Glucocerebroside
Hepatospelnomegaly
Pancytopenia
Bone pain/osteopenia
665
```
X-linked recessive alpha-galactosidase deficiency.
Diagnosis?
Inheritance?
Accumulated substrate?
Key features?
```
Fabry
X-linked recessive lipid storage disorder (characterised by alpha-galactosidase A deficiency)
Globotriasylceramide
Angiokeratomas
Peripheral neuropathy
Glomerulopathy
666
Autosomal recessive galactocerebrosidase deficiency.
Diagnosis?
Accumulated substrate?
Key features?
Krabbe
Galactocerebroside and psychosine
Progressive neurodegeneration
Peripheral neuropathy
Optic atrophy
667
Autosomal recessive Arylsulfatase A deficiency.
Diagnosis?
Accumulated substrate?
Key features?
Metachromatic leukodystrophy
Cerebroside sulfate
Progressive neurodegeneration
Peripheral neuropathy
668
Most inherited cause of intellectual disability?
Defect is due to?
Early manifestations?
Classic physical features?
Fragile X syndrome
Unstable expansion of trinucelotide repeats in the fragile mental retardation 1 (FMR1) gene. Occurs due to the methylation of this FMR1 gene inactivating it.
Developmental delay and delayed motor and language milestones. Also mild to moderate ID.
Prominent forehead, large ears, long narrow face, prominent chin and macroorchidism
669
First line treatment for localised psoriasis?
Topical corticosteroids (diflorasone)
Vitamin D analogs (calcipotriene, calcitriol) - inhibit T cell and keratinocyte proliferation and stimulation of keratinocyte differentiation.
670
Manic episode clinical features
>1 weeks of elevated or irritable mood and increased energy
```
>3 of the following symptoms:
Distractibility
Impulsivity, risky behaviour
Grandiosity
Flight of ideas
Increased activity/psychomotor agitation
Decreased need for sleep
Talkativeness/pressured speech
```
671
What does menotropin act as? Effect?
FSH
Triggers the formation of a dominant ovarian follicle
672
What does administration of hCG act like? Effect?
LH surge
Ovulation
673
Deep inguinal ring opening?
| Superficial inguinal ring opening?
Transversalis fascia
External oblique muscle aponeurosis
674
Muscle pain, cramps and weakness involving the proximal muscles. Delayed tendon reflexes and myoedema and features of hypothyroidism.
Disorder?
Creatine kinase?
Hypothyroid myopathy
| Raised creatine kinase
Elevated TSH level
675
Proximal muscle pain and weakness usually within weeks too months after starting statins
Disorder?
Creatine kinase?
Statin-induced myopathy
Increased
676
Mechanism of action of hydroxyurea?
| Used for?
Increases fetal hemoglobin (Hb F) synthesis through an incompletely understood mechanism.
Sickle cell disease - with frequent pain crises
677
6 day old boy with difficulty feeding, trismus. Also he has spasms and has clenched hands, dorsiflexed feet and opsithotonus.
Diagnosis?
Treatment?
Prevention?
Neonatal tetanus
Supportive care
Abx and tetanus immune globulin
Immunization of pregnant women and those of child bearing age
Hygienic delivery and cord care
(Transplacental IgG)
678
Foscarnet -
Used for?
Mechanism of action?
Pyrophosphate analog sometimes used for ganciclovir-resistant CMV infections
Binds in vitro to viral-encoded enzymes such as DNA polymerase, RNA polymerase and reverse transcriptase.
Chelate calcium
679
Rifampin -
Mechanism of action?
Side effects?
Inhibition of bacterial DNA-dependent RNA polymerase
GI side effects, rash, red-orange body fluids, cytopenias
680
Isoniazid -
Mechanism of action?
Side effects?
Inhibition of mycolic acid synthesis
Neurotoxicity (give vitamin B6). hepatotoxicity
681
Pyrazinamide -
Mechanism of action?
Side effects?
Unclear
Hepatoxicity, hyperuricemia
682
Ethambutol -
Mechanism of action?
Side effects?
Inhibition of arabinosyl transferase (?)
Optic neuropathy - decreased visual acuity, central scotoma, or color blindness
683
Sudden cardiac death -
Precipitated by?
Autopsy?
Cardiac arrhythmia
Cardiac hypertrophy with patchy interstitial fibrosis-
684
24 year old woman comes in with joint pain, fatigue, edema and weight gain for the past 4 weeks. She has recurrent oral ulcers, facial puffiness and 3+ peripheral edema. Swelling, erythema and tenderness are noted over bilateral MCP and POP joints. Kidney biopsy shows glomerular capillary wall thickening with no increase in cellularity. When the sample is stained with methenamine silver, irregular spikes protruding from the glomerular basement membrane.
Diagnosis?
Membranous glomerulopathy
"spike and dome"
685
Epidermis easily comes off with gentle pressure.
| Diagnosis?
Staphylococcal Scalded Skin Syndrome
Due to exfoliatin exotoxin
686
```
Bacterial meningitis
CSF findings -
Cell count?
Cell type?
Glucose?
Protein?
```
Very increased
Neutrophils
Decreased
Very high protein
687
```
Viral meningitis CSF findings -
Cell count?
Cell type?
Glucose?
Protein?
```
Increase
Lymphocytes
Normal
Normal or increase
688
```
Fungal or TB meningitis CSF findings -
Cell count?
Cell type?
Glucose?
Protein?
```
Increase
Lymphocytes
Decrease
Increase
689
```
Herpes encephalitis CSF findings -
Cell count?
Cell type?
Glucose?
Protein?
```
Increase
Lymphocytes and erythrocytes
Normal
Increase
690
```
Guillain-Barre syndrome CSF findings -
Cell count?
Cell type?
Glucose?
Protein?
```
Normal
Normal
Normal
Increase
691
Graves ophthalmopathy cause?
| Treatment?
Stimulation of orbital fibroblasts by thyrotropin receptor antibodies and cytokines released by activated T cells.Excess deposition of extracellular glycosaminoglycans and inflammatory infiltration lead to expansion of extraocular muscle and retro-orbital tissues.
Glucocorticoids
692
ANP in the kidneys:
Where is ANP secreted from?
Effect in kidneys?
Secreted by atrial cardiomyocytesin response to atrial stretch
Dilates afferent artioles, increasing GFR and urinary excretion of sodium and water
693
ANP in the adrenal gland?
Restricts aldosterone secretion leading to increase H2O and sodium excretion by the kidneys.
694
ANP in the blood vessels?
Relaxes vascular smooth muscle in arterioles and venules producing vasodilation.
695
Nosocomial bloodstream infections?
| Associated with?
Coagulase-negative staphylococci
Staphylococcus aureus
Enterococci
Candida species
Intravascular catheters
696
Motile, curved, gram-negative rod and causing gastroenteritis.
Diagnosis?
Transmission?
Associated?
Campylobacter jejuni
Ingestion of contaminated food (undercooked poultry)
Direct contact with domesticated animals (especially puppies from kennels)
Guillain-Barre syndrome (ascending, symmetric muscle weakness)
697
21 year old man in a stuporous condition returned from a visit to Mexico 2 weeks ago. One week ago, high grade fever, headaches, severe myalgias and joint pains. BP 80/50 and HR is 128/min. Examination shows a diffuse maculopapular rash, multiple purpuric lesions, and hepatomegaly. Lab studies show marked thrombocytopenia, leukopenia and elevated liver aminotransferases.
Diagnosis?
Mechanism?
Dengue hemorrhagic fever
Infection with a different viral serotype
Increased vascular permeability
Thrombocytopenia
Spontaneous bleeding --> shock
Positive tourniquet test (petechiae after cuff inflation for 5 minutes)
698
6 hour boy in a newborn nursery with feeding difficulties. the patient was born at 39 weeks gestation to a 33 year old via C section. Failure to progress and late decelerations. Infant with excessive drooling and occasional coughing. Infant attempts to breastfeed however several bouts of coughing and perioral cyanosis with O2 sats of 85%.
Diagnosis?
Pathogenesis?
Tracheoesophageal fistula with esophageal atresia
Failure of primitive foregut to separate from airway
699
Brief transient euphoria, lethargy, disorientation, LOC, poor coordination and slurred speech. Effects last about 15-45 minutes. Afterwards perioral and perinasal rash on examination.
Drug?
Inhalants
700
Etoposide -
What is it?
Mechanism of action?
Chemotherapeutic agent
Inhibits the dealing activity of topoisomerase II.
Cause chromosomal breaks to accumulate in dividing cells.
701
VHL gene -
Syndrome?
Associated neoplasms?
Von Hippel-Lindau syndrome
Hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma
702
Bones in rickets?
Excess of unmineralised osteoid matrix and epiphyseal cartilage
703
8 Year old Middle eastern immigrant is brought in with low grade fever and skin rash. Rash started on his face and spread rapidly down his body. The boy just returned from a month long trip to Yemen where he visited relatives. Examination shows a generalised, fine, pinkish, maculopapular rash and tender lymphadenopathy bilaterally behind the ears. Most likely virus?
Togavirus - Rubeola/"Rubella"
Child probably didn't complete vaccine regimen recommended by CDC
704
Fenofibrate -
Mechanism?
Major lipid effects?
Side effects?
Activates Proliferator-activated receptor-alpha
Decreased VLDL synthesis
Decreased Triglycerides and increased HDL
Muscle toxicity
Gallstones
705
First line treatment of Trigeminal neuralgia?
Carbamazepine - decreases sodium current on multiple levels (can cause bone marrow suppression)
706
Potter sequence?
Urinary tract anomaly
Anuria/oliguria in utero
Oligohydramnios
Pulmonary hypoplasia
Flat facies
Limb deformities
707
59 year old man complains of difficulty climbing stairs and getting up from a chair. He also reports diplopia and dry mouth. Past surgical history is remarkable for intramedullary nailing of his right tibia after he sustained injuries in an accident. Smoking 1.5 paks daily for 30 years. He states he has been married for 33 years but he isn't performing as well as he used to. Examination is significant for decreased deep tendon reflexes (esp quadriceps tendons). CXR shows an irregular round mass in the upper lobe of the right lung.
Most likely diagnosis?
Pathogenesis?
Lambert-Eaton myasthenic syndrome
Autoimmune disorder - antibodies against presynaptic voltage-gated calcium channel and NMJ
708
Specific gastric cancer risk factors?
Dietary nitrates
Alcohol and tobacco use
H pylori
709
Specific liver cancer risk factors?
Hep B & C
Liver cirrhosis
Hemochromatosis
Aflatoxin
710
Specific colorectal cancer risk factors?
Hereditary CRC syndromes
Inflammatory bowel disease
Obesity
Charred or fried foods
711
Pregnanct woman in cardiogenic shock, hypoxemic resp failure, DIC and seizures.
Diagnosis?
Histology?
Amniotic fluid embolism
Pulmonary artery branch with swirls of fetal squamous cells
712
Uncomfortable urge to move the legs with unpleasant sensations in the legs, onset with inactivity or at night and relief with movement (e.g walking, stretching).
Diagnosis?
Causes?
Treatment?
Restless leg syndrome
Idiopathic
Iron deficiency
Uremia
Diabetes (especially with neuropathy)
```
Avoidance of aggravating factors (eg alcohol, sleep deprivation)
Dopamine agonists (pramipexole)
```
713
Plummer-Vinson syndrome -
| Characterised by?
Dysphagia and iron deficiency anemia
Koilonychia and shiny red tongue
(Treat with iron supplements)
714
The metanephric blastema gives rise to?
Glomeruli, Bowman's space, proximal tubules, the loop of Henle and DCT
715
What is B? (statistics)
Probability of committing a type II error
716
How to calculate statistical power?
1-Beta
717
What is a type 1 error?
When researchers reject the null hypothesis when its really true
718
Portal vein thrombosis presentation?
Portal HTN, splenomegaly and varcosities at postocaval anastomoses
719
>1 day and <1 month, sudden onset, full return to function of delusion, hallucinations, disorganised speech, grossly disorganised or catatonic behaviour
Brief psychotic disorder
| Greater than 1 month and <6 months is schizophreniform disorder
720
Amatoxins in amanita phalloides inhibit?
RNA polymerase II (halting mRNA synthesis)
721
PCOS long term risk
Endometrial carcinoma
722
Hemophilias and desmopressin therapy
Increases circulating factor VIII
| Endothelial secretion
723
Bipolar I vs Bipolar II
Manic episode VS hypomanic episodes
| Bipolar II also has to have >1 major depressive episodes
724
Loss of pain, temperature and light touch on contralateral side
Loss of motor function and vibration, position, and deep touch sensation on ipsilateral side
Brown-Sequard syndrome
| Hemisection of the cord
725
MEN type 1
```
Primary HyperPTH
Pituitary tumours (prolactin, visual defects)
Pancreatic tumours (gastrinomas)
```
726
Fevers, fatigue, myalgias, headache, flulike symptoms also anemia, thrombocytopenia and increased LFTs while in northeastern USA outdoors.
Blood smear shows intraerythrocytic pleomorphic ring inclusions.
Diagnosis?
Transmission?
Babesiosis
Ixodus scapularis tick (same for lyme disease and HGA)
727
Diabetes mellitus with postprandial nausea, vomiting of undigested food, bloating and early satiety.
Diagnosis?
Treatment?
Mechanism?
Diabetic gastroparesis
| Metoclopramide, a dopamine 2 receptor antagonist
Erythromycin - Important for activation of motilin receptor
728
Constrictive pericarditis -
Physical examination?
Pathogenesis?
Increased jugular venous pressure, pericardial knock, pulsus paradoxus, kussmaul sign
Rigid pericardium prevents ventricular expansion and restricts diastolic fillings
Predominantly right-sided manifestations
729
Elderly patients with oropharyngeal dysphagia, halitosis, regurg and recurrent aspiration.
Zenker diverticulum
730
Vaginal bleeding, enlarged uterus inconsistent with dates, extremely high B-hCG levels that can cause hyperemesis gravidarum, pre-eclampsia, hyperthyroidism, theca-lutein cysts.
Diagnosis?
Pathologic features?
Kayotype?
Immunochemistry?
Risk of gestational trophoblastic neoplasia?
Complete hydatidiform mole
Diffuse trophoblastic proliferation and edematous chorionic villi "bunch of grapes" appearance
No fetal/embryonic tissue
46 XX or XY
p57-negative
15%-30%
731
Vaginal bleeding, crampy abdo pain, normal uterine skin, normal to high B-hCG levels with some enlarged villi with focal trophoblastic proliferation and fetal/embryonic tissue is present.
69 XXX or XXY (maternal and paternal DNA)
p57-positive
<5%
732
```
Colitis associated colorectal cancer -
Age?
Origin of dysplasia?
Location?
Tumours?
Histology?
Mutations?
```
Younger (age 40-55)
Flat (nonpolypoid) lesions
Proximal > distal
Multifocal
Mucinous and/or signet ring cells
Poorly differentiated
Early p53 mutation
Late APC gene mutation
733
```
Sporadic colorectal cancer -
Age?
Origin of dysplasia?
Location?
Tumours?
Histology?
Mutations?
```
Older (age >60)
Polypoid lesions
Distal > proximal
Singular
Rarely mucinous
Well differentiated
Early APC gene mutation
Late p53 mutation
734
Poison ivy dermatitis -
Allergic substance?
Type of reaction?
Effector cells?
Urushiol
Type IV hypersensitivity
CD8+ T cells
735
TP53 gene -
Syndrome?
Associated neoplasms?
Li-Fraumeni syndrome
Sarcomas, breast cancer, brain tumours, adrenocortical carcinoma, leukemia
736
Autism spectrum disorder clinical features
Deficits in social communications and interactions: sharing of emotions, nonverbal communication, developing and understanding relationships
Restricted repetitive patterns of behaviours: repetitive movements or speech, insistence on sameness, intense, fixated interests
737
Effect of excess vasoactive intestinal peptide?
Watery diarrhea, hypokalemia and aclorhydria syndrome (pancreatic cholera)
(VIPoma)
738
```
Platelet count - Normal
Prothrombin time - Normal
Partial thromboplastin time - Increased
Plasma fibrinogen values - Normal
Peripheral blood smear - Normal
```
```
Options:
von Willebrand disease
Immune thrombocytopenic purpura
TTP-HUS
Disseminated intravascular coagulation
```
von Willebrand disease
Normally binds collaged
Factor VIII is rapidly degraded
739
```
Platelet count - Decreased
Prothrombin time - Normal
Partial thromboplastin time - Normal
Plasma fibrinogen values - Normal
Peripheral blood smear - Isolated thrombocytopenia
```
```
Options:
von Willebrand disease
Immune thrombocytopenic purpura
TTP-HUS
Disseminated intravascular coagulation
```
Immune thrombocytopenia purpura
740
```
Platelet count - Decreased
Prothrombin time - Normal
Partial thromboplastin time- Normal
Plasma fibrinogen values - Normal
Peripheral blood smear - RBC fragmentation (schistocytes)
```
```
Options:
von Willebrand disease
Immune Decreased purpura
TTP-HUS
Disseminated intravascular coagulation
```
TTP-HUS
741
```
Platelet count - Normal
Prothrombin time - Increased
Partial thromboplastin time - Increased
Plasma fibrinogen values - Decreased
Peripheral blood smear - RBC fragmentation
```
```
Options:
von Willebrand disease
Immune thrombocytopenic purpura
TTP-HUS
Disseminated intravascular coagulation
```
DIC
742
IV drug users and right-sided endocarditis -
| Cause?
Staphylococcus aureus
743
Photoaging -
Caused by?
Wrinkles caused by?
Excess exposure UV A wavelengths caused by epidermal atrophy with flattening of rete ridges
Decreased collagen fibril production and increased degradation of collagen and elastin in the dermis
744
First line treatment of agitation of psychosis associated with delirium?
Haloperidol or Quetiapine
745
A diarrheal outbreak is reported in Ohio. Six, healthy children age 10-11 and two teachers developed acute vomiting and diarrhea whithin a 2 day period. It is described as watery and without blood or mucus. Three of them are febrile. None have travelled abroad and are up to date with immunizations.
Pathogens?
Norovirus
Single-stranded RNA genome
(most common cause of viral gastroenteritis)c
746
Immunocompetent patients with a heterophile antibody-negative mononucleosis-like syndrome - most likely diagnosis?
Cytomegalovirus
747
Fidaxomicin -
Type of drug?
Used for?
Mechanism of action?
Macrocyclic antibiotic
C.difficile
Inhibits the sigma subunit of RNA polymerase leading to protein synthesis impairment and cell death
748
Sickle cell disease effect on spleen
Splenic atrophy and fibrosis
749
What is regulator of iron homeostasis?
| What secretes it?
Hepcidin
| Acute phase reactant secreted by hepatic parenchymal cells
750
S-100 immunoreactivity - diagnosis?
Schwannomas
751
What is abetaliproteinemia?
An inherited ability to synthesize apoliprotein B. Lipids absorbed by the small intestine cannot be transported into the blood and accumulate in the testinal epithelium resulting in ennterocytes with clear or fomay cytoplasm
752
6 year old boy with autosomal recessive disorder that has bilateral sensorineural hearing loss and ECG shows normal sinus rhythm with prologed QT interval.
Diagnosis?
Genetic defect?
Jervell and Lange-Neilsen syndrome
753
```
HIV -
CD4 <200/mm3
Oropharyngeal candidiasis
Infection risk?
Prophylaxis?
```
Pneumocystis jirovecii
Trimethoprim-sulfamethoxazole
754
```
HIV -
CD4 <100/mm3
Positive Toxoplasma IgG antibody
Infection risk?
Prophylaxis?
```
Toxoplasma gondii
Trimethoprim-sulfamethoxazole
755
HIV -
CD4 <50mm3
Infection risk?
Prophylaxis?
Mycobacterium avium complex
Azithromycin
756
44 year old man due to several weeks of difficulty walking and frequent falls. Reports episodes of sharp, stabbing pain in his extremities (Lancinating pains). The patient has HIV acquired from unprotected sexual contact and is non adherent with treatments. Deep tendon reflexes are absent at the knee and ankle bilaterally. Proprioception and vibration sensation are reduced throughout the lower extremities. He has a wide based gait and a positive Romberg sign.
Diagnosis?
Pathogenesis?
Epidemiology?
Tabes dorsalis
Treponema pallidum spirochetes directly damage the dorsal sensory roots
Secondary degeneration of dorsal columns
Increased incidence of syphilis in men who have sex with men and HIV-infected patients
757
Serrated or adenomatous colonic polyps (villous > tubular) -
| Neoplastic or non neoplastic?
Neoplastic
758
Hyperplastic, inflammatory, juvenile, submucosal colonic polyps -
Neoplastic or non neoplastic?
Non-neoplastic
759
```
28 year old woman comes to ED with acute onset abdo pain, nausea and confusion. Urine is reddish in colour and darkens on standing for 24 hours. IV dextrose is administered and her symptoms improve significantly. Dextrose infusion improved her condition.
Diagnosis?
Inheritance?
Treatment?
Prevention?
```
Acute intermittent porphyria, autosomal dominant disorder of the heme synthesis pathway
Caused by prophobilinogen deaminase deficiency
Inhibiting ALA synthase which is downregulated by heme and glucose
Avoidance of alcohol, smoking, griseofulvin, rifampin
760
Benign tumour composed of blood vessels, smooth muscle and fat.
Diagnosis?
Associated with?
Angiomyolipoma
Tuberous sclerosis - autosomal dominant characterised by cortical tubers and subependymal hamartomas. Facial angiofibromas and leaf shaped patches of skin lacking pigment can also occur.
761
34 year old woman being evaluated for several months of moderate hearing loss and a disturbing ringing noise in her left ear. Her father has bilateral hearing loss attributed to old age. Canals are patent and tympanic membranes appear grey with well visualised light reflex. Hearing is diminished on the left side. Neurologic examination shows left sided facial numbness, an asymmetric smile and decreased afferent and efferent corneal reflex responses in the left eye.
Diagnosis?
Location?
Intracranial schwannomas.
Cerebellopontine angle (From CN VIII - acoustic)
762
Intellectual disability, gait abnormality, eczema and a musty body odor in 3 year old baby.
Diagnosis?
Inheritance?
Phenylketonuria
| Autosomal recessive
763
What is the Hawthorne effect?
Tendency of subjects to change their behaviour as a result of their awareness that they are being studied.
764
What is the Berkson's bias?
Selection bias created by choosing hospitalization patients as the control group.
765
What is the Pygmalion effect?
Describes the fact that a researcher's beliefs in the efficacy of treatment can potentially affect the outcome.
766
PaO2 - Normal
SaO2 - Decreased
Oxygen content - Decreased
CO poisoning
767
PaO2 - Normal
SaO2 - Normal
Oxygen content - Normal
Cyanide poisoning
768
PaO2 - Normal
SaO2 - Normal
Oxygen content - Decreased
Anemia (Decreased Hgb)
769
PaO2 - Normal
SaO2 - Normal
Oxygen content - Increased
Polycythemia (Increased Hgb)
770
PaO2 - Decreased
SaO2 - Decreased
Oxygen content - Decreased
High altitude
771
Triad of reactive arthritis
Urethritis
Conjunctivitis
Mono/oligoarticular arthritis
(Axial involvement would include sacroiliitis)
772
First aortic arch derivatives
Part of the maxillary artery
773
Second aortic arch derivatives
Hyoid artery and stapedial artery
774
Third aortic arch derivatives
Common carotid artery
| Proximal internal carotid artery
775
Fourth aortic arch derivatives
On left -> aortic arch
| On right -> proximal right subclavian artery
776
Sixth aortic arch derivative
Proximal pulmonary arteries
| On left -> ductus arteriosus
777
Clinical features of oppositional defiant disorder?
Pattern of irritable mood for >6 months
Argues with adults, defias authority figures, refused to follow rules
Deliberately annoys others
Blames others for own mistakes or misbehaviour
Easily annoyed, angered or vindictive
Not due to another disorder
778
Varenicline -
Type of drug?
Effects?
Partial agonist of nicotinic acetylcholine receptors.
Reduces withdrawal cravings while decreasing the pleasurable effects of cigarettes and other tobacco products.
779
Weight gain and edema with 4+ protein and oval fat bodies with nephrotic syndrome. Presence of phospholipase A2 receptor.
Diagnosis?
Membranous nephropathy
780
31 year old woman comes in with transient visual changes tat are characterised by loss of vision for a minute precipitated by bending or lifting objects. She has had persistent headaches. Takes OTC medication as needed. Has bilaterally symmetric papilledema. Symtpms worsen with Valsalva manouvre.
Diagnosis?
Effect on optic nerve?
Idiopathic intracranial hypertension
Impairs axoplasmic flow
781
Immunodeficiency disorder -
| Recurrent Neisseria infection
Terminal complement deficiency
782
16 year old has difficulty walking. He has thoracic scoliosis and multiple small scars on his hands. He frequently burns his hands by accident because he can't feel the heat. He has 1+ biceps reflex and 3+ patella reflexes bilaterally as well as decreased muscle strength in the bilateral upper and lower extremities. His hand muscles are atrophic and position and vibration in the feet are also impaired.
Diagnosis?
Pathogenesis?
Syringomyelia
Central cystic dilation in the cervical spinal cord slowly enlarges and causes damage to the ventral white commissure and anterior horns.
783
How do CAAT and TATA box promote initiation of transcription?
Act as binding sites for general transcription factors and RNA polymerase II
784
Effects of excess choline (Insecticide - organophosphate)
```
Diarrhea
Urination
Miosis
Bronchospasm
Bradycardia
Emesis
Lacrimation
Salivation
```
785
Causes of hypoxemia with normal alveolar to arterial gradient
Hypoventilation - obesity hypoventilation syndrome, neuromuscular disorders
Low inspired fraction of O2 - High altitude
786
Amphotericin B, nystatin -
Type of drug?
Mechanism?
Polyenes
Bind to ergosterol molecules in fungal cell membranes, creating pores and causing lysis
787
Ketoconazole, Fluconazole, itroconazole -
Type of drug?
Mechanism?
Inhibit the synthesis of of ergosterol
788
Caspofungin, micafungin -
Type of drug?
Mechanism?
Echinocandins
Inhibit the synthesis of glucan, a component of the cell wall
789
Flucytosine -
Type of drug?
Mechanism of action?
Pyrimidines
Converted to 5-fluorouracil within the fungal cell and interferes with fungal RNA and prootein synthesis
790
Drug-induced lupus erythematosus -
Causes?
Lab findings?
Clinical features?
Procainamide, Hydralazine, Isoniazid, Minocycline, TNF-a inhibitors (e.g etanercept)
Anti-histone antibodies present in >95% of patients
(Anti-dsDNA antibodies rarely seen)
```
Abrupt-onset symptoms:
Fever/fatigue
Arthalgias/arthritis
Rash
Serositis
```
Predilection for slow acetylators
791
```
5 year old boy is brought to the ED, by his parents for sever resp distress? He has not received any immunisations due to parental preference. Very uncomfortable and anxious. He is leaning forward and making a loud, harsh sound with every inspiration. Temperature is 39.6. Patient is intubated immediately. During intubation, the epiglottis is visualised and appears markedly swollen and erythematous.
Diagnosis?
Virulence factor?
Radiology?
Type of vaccine?
```
Haemophilus influenzae type B.
Capsule of Polyribosylribitol phosphate.It protects the bacterium by binding factor H preventing C3b deposition
Thumbprint sign
Conjugate Hib vaccine
792
Warfarin-induced skin necrosis -
When?
Why?
Due to the transient hypercoaguable state in the first few days of warfarin therapy
Decreased protein C and S and persistent clotting factor II, IX and X activity
793
Neurodegenerative disorders -
A neuronal protein that primarily exists in an alpha-helical secondary structure is found to be in beta-sheets conformation. The altered protein is resistant to protease and has accumulated in large quantities within the cells. Further investigation shows that the abnormal isoform can perpetually induce the same conformational change within normally folded proteins.
Diagnosis?
Prion diseases are progressive neurodegenerative disorders caused by accumulation of an abnormally folded protein within the brain
794
45 year old woman calls 911 due to severe chest pain and dyspnea. The ED finds the patient unresponsive with no pulse and she does not revive. She had prolonged hx of SLE and was recently evaluated for progressive muscle weakness. Records show increased BP, and examination findings of facial plethora, truncal obesity and skin ecchymoses. Also mild hyperglycaemia. Medical hx of left hip replacement for osteonecrosis.
Diagnosis?
Cushing syndrome due to medication of SLE
795
Baclofen -
Type of drug?
Used for?
Agonist at GABA-B receptor
Effective as monotherapy for treatment of spasticity secondary to brain and spinal cord disease (MS)
796
```
Sudden cardiac death in a young person with FH of SCD and asymmetric septal hypertrophy.
Diagnosis?
Inheritance?
Echo findings?
Common mutations?
```
Hypertrophic cardiomyopathy
Autosomal dominant genetic disorder of the cardiac myocytes
Increase in LV mass
Reduced LV cavity size
Asymmetric increase in LV wall thickness (septum)
Left atrial enlargement
Single point missense mutations in the genes for the beta-myosin heavy chain and myosin-binding protein C
797
Acidosis stimulated renal ammoniagenesis process?
Process by which renal epithelial cells metabolise glutamine, generating ammonium and bicarbonate.
798
Maple syrup urine disease -
Inheritance?
Pathogenesis?
Treatment?
Autosomal recessive disorder
Characterized by the defective breakdown of branched-chain alpha-ketoacid dehydrogenase complex (leucine, isoleucine and valine)
Thiamine, Lipoate, Coenzyme A, FAD, NAD
799
Forms of cardiac rupture (most to least common) and their associated clinical signs
Free wall rupture - hemopericardium and cardiac tamponade (profound hypotension and shock - 5-14 days)
Ventricular septal rupture - acute ventricular septal defect and left-to-right shunting and new holosystolic murmur (3-5 days)
Papillary muscle rupture - acute onset of severe mitral regurg with acute severe pulmonary edema (3-5 days)
800
Endocarditis after dental procedures -
Cause?
Pathogenesis?
Viridans streptococci
Fibrin-platelet aggregates that adhere and colonise
801
Post radical mastectomy - Multiple firm violaceous nodules on her right arm and has developed chronic lymphedema involving her right arm.
Diagnosis?
Risk factors?
Histopathologically?
Chronic lymphedema also is known as Stewart-Treves syndrome
Angiosarcoma will show infiltration of the dermis with slit-like abnormal vascular spaces.
802
15 year old boy is evaluated for fever, headache, malaise and cough 3 weeks after returning from summer camp. CXR reveals nodular infiltrates. The patient's blood samples are collected for analysis in anti coagulated tubes, which are transported submerged in ice; when taken out several minutes later, turbidity and clumping are noted. Warming the tube to body temperature leads to rapid dissolution of the clumps.
Diagnosis?
Pathogenesis?
Treatment?
Mycoplasma pneumoniae infection
Attaches to the respiratory epithelium using surface antigens (I-antigen)
These patients with M pneumoniae typically develop cross-reactive IgM antibodies attach to RBCs, activate the complement system and cause erythrocyte lysis. (cold agglutinins)
Bacterial protein synthesis inhibitor such as macrolide or tetracycline
803
Fever, headache, rash (maculopapular/morbilliform)
Meningitis, encephalitis, acute asymmetric flaccid paralysis
Rigidity, bradykinesia, tremor
Located in Texas
Diagnosis?
Transmission?
Risk factors?
West Nile Virus
Birds to mosquitoes (Culex spp.)
More common in summer/fall
Warm climate
Older age
Malignancy/organ transplant
804
Decreased maternal serum alpha-fetoprotein screening
Aneuploides (eg. trisomy 18& 21)
805
Increased maternal serum alpha-fetoprotein screening
```
Open NTD (e.g. open spina bifida)
Ventral wall defects (eg. omphalocele)
Multiple gestation
```
806
Non-cyanotic congenital heart defects
Atrial septal defect
Ventricular septal defect
PDA
Coarctation of the aorta
807
Nitrate therapy -
| Adverse effects?
Headaches, cutaneous flushing, lightheadedness, hypotension and reflex tachycardia
808
Most common cause of acute pediatric glomerulonephritis?
Presentation?
Timeline?
Age group?
Post strep golmerulonepphritis
Acute onset of malaise, periorbittal edema, HTN, and either microscopic or gross hematuria.
1-3 weeks after group A strep or skin infection.
5-12 years old
809
Paralysis of all the instrinsic hand muscles (Klumpke's palsy) - what nerve is injured?
Injury to the lower trunk of the brachial plexus
810
Sickle cell disease mutation?
Glutamic acis to valine substitution at position 6
| GAG -> GTG
811
Fructokinase deficiency -
Inheritance?
Signs?
Enzyme that takes over?
Asymptomatic autosomal recessive disorder
Fructose gets excreted into urine
Hexokinase
812
30 year old brought to ED due to erratic behaviour, progressive right sided weakness and difficulty walking last month. Has been diagnosed with HIV but is non compliant. Physical exam shows cachectic and disheveled man. Motor strength in the right upper and lower extremities is decreased and his gait is ataxic. Brain MRI reveals several discrete areas of demylineation in the subbcortical and periventricular white matter with no edema or mass effect. CD4 cell count is 30.
Responsible pathogen?
Pathogenesis?
Diagnosis?
JC virus - polyomavirus acquired in childhood that causes life-long latent infection of the kkidney nd lymphoid organs.
Attacks the oligodendrocytes that produce myelin causing a severe demylinating disease
Progressive multifocal leukoencephalopathy
813
Binge eating disorder -
| Clinical features?
Recurrent binge eaing with llack of control
| No compensatry behavours
814
Recurrent episodes of binge eating and purging, excess preoccupation with body weight and shape
Body weight within or above normal range
Complains of abdo pain, bloating, constipation, lethargy and irregular menses
Diagnosis?
Physical examination?
Lab findings?
Treatment?
Bulimia nervosa
Hypotension, tachycardia, dental erosion, dorsal hand calluses, parotid gland swelling
Hypokalemia, metabolic alkalosis
CBT
Nutritional rehabilitation
SSRI (fluoxetine)
815
What is 99m Tc-pertechnetate diagnostic for?
Localised Ectopic gastric mucosa, and its increased uptake is diagnostic for meckel's diverticuum
816
Glossopharngeal nerve -
Where does it travel?
Function?
Originates in the medulla and exits the cranial cavity via the jugular foramen
Stylopharngeus muscle (elevates larynx during swallowing)
Posterior third of tongue - sensory
Tympanic membrane einner surface
Carotid sinus and carotid body
Inferior salivary nucleus -> CN IX -> otic ganglion -> travels along auricotemporal nerve (CN V) -> parotid gland secretion
817
What is thiamine a cofactor for?
| How can you diagnose thiamine deficiency?
Pyruvate dehydrogenase
alpha-Ketoglutarate dehydrogenase - citric acid cycle
Branched chain alpha ketoacid dehydrogenase
Transketolase - pentose phosphate pathway
Erythrocyte transketolase activity (will be low)
818
Chronic AV shunt effect of ccardiac output and venous return?
Increase CO
| Increase venoud return
819
What are cold agglutinins?
| Manifestations?
Cross reacting antibodies hat bind to erythrocytes in the areas where the blood temperature is below core body temperature (distal extremities, nose)
Intravascular hemolytic anemia such as elevated reticulocyte count and lactate dehydrogenase
820
Patient has efever, chills, sweats and red blood cell inclusions on Giemsa stain that follows travelling tropical geographical region.
Diagnosis?
Pathogen and the difference between them?
Treatment?
Malaria
Plasmodium vivax, Plasmodium ovale, or P falciparum
P vivax and P ovale are different as they also establish a latent hepatic infection in the form of hypnozoites for relapses
Chloroquine - readicating choloroquine-sensitive plasmodia from the blood stream (useful for all)
In vivax and ovale - Primaquine must be added to the regimen to completely readicate the hypnozoites.
821
Low serum levels of C1 esterase inhibitor are diagnostic of?
Inheriance?
Symptoms?
Contraindicated drugs?
Hereditary angioedema
Automsomal dominant
Painless, non-pitting, well-circumscribed edema of skin and mucosal surfaces
ACE inhibitors as there are increased levels of kallikrein and bradykinin.
822
Baby born fie but few hours later is irritable, crying, hypertonic, jittery with diarrhea, vomiting and refusing to feed. Baby is sweating and sneezing along with dilated pupils.
Diagnosis?
Treatment?
Neonatal abstinence syndrome - due to transplacental opiates (mothers drug use)
Opioid therapy - morphine (Increased potassium efflux out of cells), methadone
823
Lynch syndrome -
Genes?
Associated neoplasms?
MSH2, MLH1, MSH6, PMS6
Colorectal cancer
Desmoids and osteomas
Brain tumours
824
3 year old us brought to ED with high fevers and malaise for the last 4 days. His parents say he began limping yesterday and seems to refrain from using his right leg. No travel or recent exposure. Temperature o 39.4. Passive motion does not ellicit pain and no joint effusion. Patient refuses to bear weight with his right lower extremity.
Diagnosis?
Where does it occur?
Hematogenous osetomyelitis (affects children particulary boys)
Metaphysis of long bones
825
Hydrogen breath test used to diagnosis?
Lactose intolerance
826
21 year old Caucasian male suffers from weakness and gait disturbance. He noticed he had difficulty releasing the doorknob recently and after a handshake. Phsyical exam shows cataracts, frotal baldness and gonadal atrophy
Biopsy shows muscle atrophy involving type 1 fibers
Diagnosis?
Inheritance?
Pathogenesis?
Myotonic muscular dystrophy
(second most common inherited muscle disorder)
Autosomal dominant
Abnormal trinucelotide repeat expansion of the gene that codes for a myotonia-protein kinase
827
Cytokines that are responsible for sepsis
Tumour necrosis factor-alpha
IL-1
IL-6
828
Lung abscess -
Pathogens?
Risk factors?
Peptostreptococcus, prevotella, bacteroides and fusobacterium species
Alcoholism, drug abuse, seizure disorders, previous stroke, and dementia
829
Dissociative identitiy disorder characterisic features?
Fragmentation into >2 distinct personalities
| Discontinuity in identity and personal agency
830
Dissociative amnesia characteristic features ?
Inability to recall personal information usually of a traumatic or stressful nature
831
Depersonalization/derealisation disorder characteristic features?
1 or both:
Depersonalisation (detachment, unreality of self)
Derealisation (detachment, unreality of surroundings)
832
Substantia nigra -
Type of neurons?
Disease?
Dopaminergic neurons
Parkinson disease
833
```
Primary ciliary dyskinesia -
Pathogenesis?
Resp tract features?
Extrapulmonary effects?
Diagnosis?
```
Dynein arm defect - abnormal ciliary motion and impaired mucociliary clearance
Chronic infections, nasal polyps, bronchiectasis, clubbing, persistent bronchial dilation
Situs inversus (50%), Infertility due to immotility, normal growth
Low nasal nitric oxide levels
Bronchoscopy and electron microscopic visualisation
834
Acute pericarditis -
Causes? (most common?)
Clinical features?
ECG?
Viral or idiopathic
Autoimmune disease
Uremia
Post MI
Pleuritic chest paun (decreases when sitting up)
Pericardial friction rub
ECG: diffuse ST elevation
Pericardial effusion on echocardiogram
Diffuse ST elevation
835
```
29 year old with new onset generalised tonic clonic seizures and has a history of HIV (non compliant with medication). She has been sleepy and weak for the past 2 weeks. MRI shows 2 ring-enhancing focal lesions with surrounding edema in the right frontal lobe.
Diagnosis?
Mode of transmission?
Treatment?
Differentials?
```
Toxoplasma gondii
Cat is host
(food or water contaminated by cat feces or undercooked meats)
Pyrimethamine and sulfadiazine
Primary central nervous system lymphoma (Caused by EBV and B cell origin)
836
Chronic obstructuve pulmonary disease exacerbation-
Triggers?
Clinical presentation?
Viral infection - rhinovirus, infleunza, parainfluenza
Bacterial - H influenzae, moraxella catarrhalis, strep pneumo
Increased dyspnea and/or cough
Change in sputum color or quality
837
```
Tamoxifen, Raloxifene -
Type of drug?
Mechanism of action?
Indications?
Adverse effects?
```
Selective estrogen receptor modulators
Competitive inhibitor of estrogen binding
Mixed agonist/antag action
Prevention of breast cancer
Tamoxifen - adjuvant
Raloxifene - postmenopausal osteoporosis
Hot flashes
Venous thromboembolism
Endometrial hyperplasia and carcinoma (tamoxifen)
838
Why is tetracycline contraindicated during pregnancy?
Teeth staining (ie doxycyline) (<8 yrs)
839
Why is chloramphenicol contraindicated during pregnancy?
Gray baby syndrome - gray skin, vomiting, lethargy and cardiopulmonary collapse
840
Why is trimethroprom/sulfamethoxazole contraindicatedd during pregnancy?
It is a folic acid antagonist and can increase the risk of neural tube defects.
Also displacement of blirubin in the third trimester could increase risk of kernicterus in the neonate.
841
Why are aminoglycosides contraindicated in pregnancy?
Injury to cranial nerve VIII --> ototoxicity and vestibulotoxicity (sensorineural heariing loss or vestibular instability and ataxia)
842
Abrupt onset gross haematuria in an otherwise healthy patient with a FH of sickle cell disease suggests?
Renal papillary necrosis
| due to underlying trait
843
Villous adenomas -
What do they produce?
Effect?
Large quantities of prostaglanding E2, which results in increased mucin production and a secretory diarrhea
Excessive production can case hypoproteinemia and hypokalemia
844
```
3 year old boy comes to ED for evaluation of oral bleeding that began an hour after a tooth extraction Bleeding persisted for 30 minutes. BP is 90/60 and HR is 100/min. There is still slow oozing at the side of dental extraction. FH is significant for a maternal uncle who suffered from recurrent bleedings into his joints.
Diagnosis?
Inheritance?
Clinical features?
Lab findings?
Treatment?
```
Hemophilia A&B
X linked recessive
Hemaarthrosis, instramuscular hematomas, GI or GU tract bleedings, intracranial hemorrhage
Increased activated PTT, normal platelet & PT, absent or decreased factor VIII (A) or factor IX (B)
Factor replacement
Desmopressin for mild A
845
Minute ventilation formula
tidal volume x breaths/min
846
Alveolar ventilation formula
(tidal volume - dead space volume) x breaths/min
847
Mitral valve prolapse murmur sound
Midsystolic click followed by late systolic murmur
848
Atrial septal defect murmur sound
Midsystolic with wide and fixed splitting of S2
849
Sertoli cells in embryology function
Suppresses female internal reproductive organ development by producing anti-mullerian which causes duct involution. (Also concentrated testosterone to enable spermatogenesis)
850
Leydig cells in embryology function
Secrete testosterone which stimulates Wolffian ducts to develop internal male reproductive organs. It is peripherally converted to DHT which triggers external male reproductive organs
851
Effect of CO2 on cerebral vasculature?
| Therefore effect of tachypnea?
Potent vasodilator of cerebral vasculature
Hypocapnia and cerebral vasoconstriction thereby decreasing cerebral blood volume and ICP
852
Glyburide -
Type of drug?
Mechanism of action?
Adverse effects?
Sulfonylureas
Bind to their receptor on pancreatic beta cells to inhibit the ATP-dependent potassium channel. This alters the cell's resting potential and allows calcium influx (exocytosis of insulin)
Hypoglycemia (risk is increased by exercise, missed meals, malnourishment)
853
27 year old leaves men's room after smoking unknown substances. he becomes disoriented and belligerent. The man displays uncoordinated, jerky movements of his extremities and assaults a bouncer who tries to calm him. He fights off 4 officers before being restrained and appears immune to pain. In the ED, he has visual hallucinations, cannot cooperate with the interview and alternates between agitation and sedation. He is hypertensive and tachycardic with vertical nystagmus. Several hours later, he has forgotten everything.
What substance did he take?
Mechanism?
PCP (phenylcyclidine) intoxication
N-methyl-D-aspartate glutamate receptor antagonist
854
How to do cognitive testing of:
Concentration?
Visual-spatial?
Executive function?
Reciting months of the year backwards, count back from 100 by intervals of 3 or 7, spelling world backwards
Drawing intersecting pentagons
Drawing a clock oriented to the time requested
855
58 year old man comes in due to sudden right-sided weakness. He has no sensory loss, issues speaking or difficulty with balance. The patient was previously told he has HTN but no follow up. His mother has coronary artery disease and father died of stroke. No medications. He has decreased strength (3/5) on the right side. Initial CT shows no abnormalities but 4 weeks later there is a 9mm, fluid filled cavity lesion in the left internal capsule.
What type of infarct?
Vessels involved?
Caused by?
Lacunar infarcts
Small penetrating arterioles
Primarily caused by chronic HTN which promotes lipohyalinosis, microatheroma formation and hardening/thickening of the vessel wall - Hypertensive arteriolar sclerosis
856
Hematuria, flank pain, palpable abdo mass
Weight loss, polycythemia, hypercalcemia
Golden-yellow tissue mass
```
Diagnosis?
Risk factor?
Where does it originate from?
Gross examination?
Histology?
```
Renal cell carcinoma
Smoking, HTN, obesity and toxin exposure (eg heavy metal, petroleum by-products)
Proximal renal tubules
Spherical mass often with invasion of renal vein
Clear cell - cuboidal or polygonal cells with abundant clear cytoplasm
Branching, chicken wire vasculature
857
Cells increased in COPD?
Neutrophils, macrophages and CD8+ T lymphocytes
858
```
Vitamin B3 -
What is it?
Used for?
Deficiency?
Adverse effects?
```
Niacin
Most effective for raising HDL levels
Hartnup disease - causes pellagra-like skin eruptions and cerebellar ataxia
Flushing, hyperglycemia (mediated by PGs)
It can decrease renal excretion of uric acid and an increase risk for gouty arthritis
859
42 year old woman comes in with nonproductive cough and worsening SOBOE. Hx of primary pulmonary HTN and underwent lung transplantation 8 months ago. (Has been compliant)
Pulmonary function testing demonstrates a FEV of 67% and FVC is unchanged
Lung biopsy shows areas of total fibrotic obstruction in the terminal bronchioles
Condition?
Chronic transplant rejection
860
Causes of hypopituitarism:
Pituitary causes?
Hypothalamic lesions?
Mass lesions
Infiltration
Hemorrhage (pituitary apoplexy)
Ischemic infarction (sheehan syndrome) - failure to lactate due to prolactin deficiency (during pregnancy estrogen induced hyperplasia of the pituitary doesn't have matching increase in blood suppy)
Sarcoidosis, infection, radiation therapy
861
What happens to cells in Vitiligo?
Partial or complete loss of epidermal melanocytes
862
Cells in albinism?
Melanocytes that do not produce melanin because of absent or defective tyrosinase
863
What is polyarteritis nodosa? (PAN)
Commonly involved organs?
Spared organs?
Treatment?
Segmental, transmural, necrotising inflammation of medium to small size arteries in any organ
String of pearls appearance on imaging (multiple aneurysms)
Kidney - HTN
Heart, liver, GI
Lungs
Corticosteroids or cyclophosphamide
864
Drug induced parkinsonism -
Causes?
Symptoms?
Management?
D2 receptor blockers (on the nigrostriatal pathway)
Antipsychotics and antiemetics/gastric motility agents (prochlorperazine, metoclopramide)
Prominent rigidity and bradykinesia, tremor, masked facies
Decrease or discontinue medication
Anticholinergics (trihexyphenidyl, benztropine)
865
```
Most common ovarian cancer
Bilateral
Histology: Psammoma bodies
Epithelial neoplasm
Diagnosis?
```
Serous cystadenocarcinoma
866
Psuedomyxoma peritonei
Mucin-producing epithelial cells
Epithelial neoplasm
Diagnosis?
Mucinous cystadenocarcinoma
867
```
Adolescents
High b-hCG and high LDH
Histology: Fried egg cells
Germ cell neoplasm
Diagnosis?
```
Dysgerminoma
868
```
Increased AFP
Aggressive
Schiller-Duval bodies resemble glomeruli
Germ cell neoplasm
Diagnosis?
```
Endodermal sinus (yolk sac)
869
```
Large, unilateral adnexal mass
Increased estrogen
Increased inhibin
Histology: Call-Exner bodies, coffee bean nuclei
Stroma (sex cord) neoplasm
Diagnosis?
```
Granulosa cell
870
Increased androgens
Stroma neoplasm
Diagnosis?
Sertoli-Leydig
871
Formula for net filtration pressure
(Pc-Pi) - (c-i)
872
Anatomically in which part of the penis does a hydrocele occur?
Tunica vaginalise
873
Sublimation description?
Channeling impulses into socially acceptable behaviours
874
Suppression description?
Putting unwanted feeling aside to cope with reality/
875
Toxic shock syndrome -
Pathogen?
Cytokines?
Staphylococcus aureus
IL-2, IL-1 and TNF from macrophages
876
Absence seizures -
Clinical features?
Treatment?
Sudden impairment of consciousness
Preserved muscle tone
Short duration
Easily provoked by hyperventilation
Ethosuximide - blocks T-type Ca2+ channels
877
Blue sclerae, small malformed teeth and a history of several fractures after only minimal trauma -
Diagnosis?
Pathogenesis?
Osteogenesis imperfecta - impaired synthesis of type 1 collagen by osteoblasts
878
Chemoprophylaxis for meningococcal disease?
Rifampin
879
Single painless genital ulcer at inoculation site with heaped borders and clean base
Diagnosis?
Causative agent?
Lab tests?
Syphilis
treponema pallidum
VDRL/RPR
Dark-field microscopy
880
Multiple, painful superficial genital vesicles or ulcerations with erythematous base
Diagnosis?
Causative agent?
Lab tests?
Genital herpes
Herpes simplex virus
PCR
Tzanck smear
881
Deep, purulent painful genital ulcers with matted/suppurative lymphadenitis
Diagnosis?
Causative agent?
Lab tests?
Chancroid
Haemophilus ducreyi
Gram stain and culture
PCR
882
Painless, progressive, red serpiginous ulcerative genital lesions without lymphadenopathy
Diagnosis?
Causative agent?
Lab tests?
Granuloma inguinale (donovanosis)
Klebsiella granulomatis
Gram stain and culture
Biopsy - Donovan bodies
883
Bromocriptine, pramipexole and ropinirole -
Type of drug?
Classes?
Mechanism?
Dopamine agonists
Bromocriptine - Ergot compound
Nonergot - pramipexole and ropinirole
Directly stimulate dopamine receptors
Can delay the need to start levodopa (longer half life)
884
Blood vessel behind duodenal wall that is penetrated can by ulcers
Gastroduodenal artery
885
```
12 year old boy is brought to the office due to gait instability and pruritic skin rash for the past several weeks. His mother reports he has been irritable and had loose stools. The patients childhood development has been unremarkable except for several episodes of similar skin rash. Scaly, erythematous skin lesions in sun-exposed areas and cerebellar ataxia. Lab shows increased levels of neutral amino acids in the urine.
Diagnosis?
Inheritance?
Pathogenesis?
Treatment?
```
Hartnup disease
Autosomal recessive
Inactivating mutations affecting the neutral amino acid transporter. This results is impaired transport of neutral amino acids specifically tryptophan in SI and proximal tubule (Tryptophan is precursor for niacin, serotonin, melatonin)
High-protein diet with daily niacin or nicotinamide
886
Clotting difference between heparin and warfarin
Heparin - increase aPTT
| Warfarin - Increase PT
887
Episodic bleeding unrelenting since childhood
PT - normal
aPTT - normal
Platelet count - decreased (<50)
Bleeding time - increased
Increased megakaryocytes on bone marrow biopsy
Treatment?
Immune thrombocytopenia (ITP)
Corticosteroids
888
Follicular lymphoma -
Gene mutation?
Pathogenesis?
t(14;18) translocation
Over expression of antiapoptotic gene product Bcl 2 and tumour formation
889
Dementia -
Early personality changes
Apathy, disinhibition, compulsive behaviours
Atrophy of brain on neuroimaging
Fronto-temporal dementia
890
```
Central neurofibromatosis -
Gene?
Inheritance?
What does it code for?
Chromosome?
Main clinical feature?
```
NF2
Autosomal dominant
Merlin
Ch 22
Bilateral acoustic neuromas
891
```
Neuronal changes -
Shrinkage of cell body
Psyknosis of the nucleus
Loss of Nissl bodies
Eosinophilic cytoplasm (red neuron)
```
Type of response?
Type of injury?
Severe insult leading to cell death
Acute neuronal injury
892
```
Neuronal changes -
Enlargement of the celll body
Eccentrically placed nucelus
Enlargement of the nucelolus
Dispersion of Nissl bodies
```
Type of response?
Type of injury?
Axon transection
Axonal reaction (regeneration)
893
Neuronal changes -
Loss of functionally related neurons
Reactive gliosis
Type of response?
Type of injury?
Progressive degenerative disease (ALS, Parkinsons)
Chronic neuronal injury
894
6 year old boy is evaluated for recurrent infections and failure to thrive. Hospitalised for pneumococcal pneumonia twice and has had 5 episodes of otitis media. (Has tympanostomy tubes placed)
Hx of prolonged diarrhea caused by Cryptosporidium parvum
Physical examination shows large tonsils, palpable lymph nodes and hepatosplenomegaly
He also has defective signalling between the activated CD4+ T cells and B lymphocytes.
Diagnosis?
Inheritance?
Etiology?
Labs?
Hyperimunoglobulin M syndrome
X-linked recessive
Deficient CD40L-CD40 interaction
Failure of antibody switching in B cells
Increased IgM
Very low IgG, IgA, IgE
CD40L absent on CD4+ T cells
895
Causes of polyhydramnios?
Impaired fetal swallowing - fetal GI obstruction -> esophageal, duodenal or intestinal atresia and anencephaly
Increased fetal urination - High fetal cardiac output -> alloimmunization, parvovirus infection, fetomaternal hemorrhage
896
Patient with HIV recently started on antiretroviral therapy and subsequently developed evidence of proximal tubule dysfunction (eg hypophosphatemia, glucosuria, proteinuria, biopsy abnormalities)
Likely diagnosis?
Pathogenesis?
Tenofovir-induced nephrotoxicity (common part of first-line HIV therapy)
Adenosine analogue -> nucleotide reverse transcriptase inhibitors
NRTIs prevent reverse transcriptase from converting the HIV RNA genome into complementary double-stranded DNA, which inhibits viral replication.
Eliminated via the proximal tubule cells of the kidney
Manifests as AKI and/or signs of proximal tubule dysfunction
897
What do patients who adequately respond to the HBV vaccine generate?
They generate anti-HBs antibodies which bind to circulating viral particles and prevent attachment to and penetration of hepatocytes.
898
Medications that increases long term survival in heart failure
Beta blockers (carvedilol, metoprolol)
ACE inhibitors
Ang II recpetor blockers
Aldosterone antagonists (spironolactone, eplerenone)
899
```
60 year old professor is brought to the ED after developing right-sided weakness and numbness an hour ago. He also has nausea and confusion. His father died of an MI at age 70. BP is 190/100 mm Hg and pulse 60/min. There is diminished right-sided strength (1/5) and an upgoing plantar reflex.
Diagnosis?
Location?
Size?
Result of rupture?
```
Charcot-Bouchard aneurysms
Basal ganglia
Cerebellum
Thalamus
Pons
<1mm
Intracerebral haemorrhage
900
CREST syndrome?
| Limited type of systemic sclerosis
Limited skin and late visceral involvement
```
Calcinosis
Raynaid phenomenon
Esophageal dysmotility (atrophy and fibrous replacement of the muscularis in the lower esophagus)
Sclerodactyly
Telangiectasia
```
901
Effects of desmopressin therapy on mild hemophilia A and Type 1 von Willebrand disease
Increases circulating factor VIII and endothelial secretion of vWF to stop bleeding
902
Effects of desmopressin therapy on central diabetes insipidus and nocturnal enuresis
Binds to V2 receptors in renal tubular cells, leading to increased aquaporin channels, increased water reabsorption and decreased urine output
903
Hepatic angiosarcoma -
Associated with?
Cells expressed?
Arsenic, thorotrast and polyvinyl chloride
CD31 - PECAM1 (platelet endothelial cell adhesion molecule)
904
Lymphoblasts in precursor B-ALL
Tdt+, CD10+ and CD19+
905
Lymphoblasts in precursor T-ALL
T cell markers
| CD2,3,4,5,7,8, TdT and CD1a
906
Cluster A personality disorders
Paranoid: suspicious, distrustful, hypervigilant
Schizoid: prefers to be a loner; detached, unemotional
Schizotypal: unusual thoughts, perceptions and behaviour
907
What are anti-Smith antibodies associated with?
Systemic lupus erythematosus
908
```
Gaucher disease -
Inheritance?
Epidemiology?
Pathology?
Onset?
Presentation?
```
Autosomal recessive
Ashkenazi Jews
Lysosomal storage disorder caused by beta-glucocerebrosidase deficiency
Childhood to early adulthood
Bone pain due to bone marrow invasion/inflammation, abdominal distension due to hepatosplenomegaly and easy bleeding and bruising, pallor and fatigue due to pancytopenia
909
Severe headache
Bitemporal hemianopsia (optic chiasm) and ophthalmoplegia (CN III)
Hemodynamic instability and altered sensorium
Diagnosis?
Pathogenesis?
Complication?
Pituitary apoplexy
Acute pituitary hemorrhage
Usually occurs in preexisting adenoma
Panhypopituitarism
Severe hypotension
Coma and death
910
This patient's seizure, headache, motor weakness and brain mass composed of abnormal astrocytes.
Suspicion?
Cells?
Glioblastoma
Highly aggressive tumor that stems from glial or pluripotent neural stem cells.
Associated with the overexpression of epidermal growth factor receptor on the surface of neoplastic cells.
911
```
42 year old man comes to physician because of dysuria and blood in his urine at the end of urination. He returned to the US 2 weeks ago after several months touring Africa. While there, he went spelunking, bathed in the beaches and lakes and ate the local street food. Ultrasonography reveals mild bilateral hydronephrosis and bladder wall thickening.
Source of infection?
Species?
Location?
Pathogenesis
```
Freshwater snails
S haematobium
North Africa
Sub-saharan africa
Middle east
Larvae can penetrate intact human skin and travel to the liver afterwards it migrates to the urinary bladder venous plexus. (Can remain to 5-30 years)
912
Dubin-Johnson syndrome -
Inheritance?
Pathogenesis?
Presentation?
Autosomal recessive disorder
Defective hepatic excretion of bilirubin glucuronides due to a mutation in canalicular membrane transport protein
Can develop into episodes of jaundice and may result in direct hyperbilirubinemia
Liver appears black and is composed of polymers of epinephrine metabolites
913
Symmetrical proximal muscle weakness
Increasing difficulty climbing stairs, getting up from a chair and carrying heavy objects. Progressive worsening.
Muscle biopsy revealed MHC class I overexpression on the sarcolemma CD8+ lymphocyte infiltration.
Diagnosis?
Other tests?
Associated complications?
Polymyositis
Elevated muscle enzymes (CK, aldolase)
Autoantibodies ( ANA, anti-Jo-1)
Interstitial lung disease
Myocarditis
914
10 year old boy is brought to the physician by his parents due to restlessness and involuntary jerking. On examination, the patient has rapid, irregular jerking movements involving his face, arms and legs.
Risk of developing?
Diagnosis?
Pathogenesis?
Valvular heart disease (Sydenham chorea)
Acute rheumatic fever
2-4 weeks after acute group A strep pharyngitis
Molecular mimicry: anti-strep antibodies attack cardiac and neuronal antigens
915
Whipple's triad?
Symptoms of hypoglycemia
Low blood glucose level
Relief of hypoglycemic symptoms when the blood glucose level is increased
916
Effect of HTN emergency on kidneys
Malignant nephrosclerosis
| Characterised by fibrinoid necrosis and hyperplastic arteriolosclerosis
917
One month old Caucasian male with a history of persistent jaundice experiences muscle rigidity, lethargy and seizure.
What cause of hyperbilirubinemia would produce the neurological abnormalities?
Diagnosis?
Inheritance?
Pathogenesis?
Absent liver conjugation enzymes
Crigler-Najjar syndrome type 1
Autosomal recessive disorder of bilirubin metabolism
Lack of UGT enzyme needed to catalyse bile glucuronidation
918
Formula for renal blood flow
(renal artery pressure - renal vein pressure) / renal vascular resistance
919
Formula for renal plasma flow
PAH clearance = (urine [PAH] x urine flow rate) / plasma [PAH]
920
Bacillary angiomatosis -
Characterised?
Transmission?
Symptoms?
The formation of highly vascular lesions in the skin and other organs due to infection with the small, gram-negative bacterium Bartonella henselae.
Cat scratch or bite
Develop violaceous, cutaneous lesions that are highly vascular.
921
Current alzheimer's disease specific therapies
Cholinesterase inhibitors (Donepezil)
Antioxidants (Vitamin E)
NMDA receptor antagonists (Memantine)
922
Where does middle meningeal artery branch from?
Maxillary artery
923
Bacteroides -
Gram stain?
Produces?
Treatment?
Gram-negative anaerobic rods
Beta-lactamase (breaks down penicillins)
Tazobactam, clavulanic acid and sulbactam
Combination of piperacillin and tazobactam
924
```
Relative polycythemia -
Etiology?
Plasma volume?
RBC mass?
SaO2?
EPO level?
```
Dehydration, excessive diureses
Decreased
Normal
Normal
Normal
925
```
Primary polycythemia -
Etiology?
Mutation?
Plasma volume?
RBC mass?
SaO2?
EPO level?
Treatment?
```
Polycythemia vera - a clonal myeloproliferative disease of pluripotent hematopoetic stem cells. (Has a JAK2 a non-receptor tyrosine kinase)
V617F mutation involving JAK2 gene. Replaces valine with phenylalanine at 617 position
Increased
Increased
Normal
Decreased
Serial phlebotomy to keep hematocrit <45%
926
```
Physiologic secondary polycythemia -
Etiology?
Plasma volume?
RBC mass?
SaO2?
EPO level?
```
Hypoxia
Normal
Increased
Decreased
Increased
927
```
Inappropriate secondary polycythemia -
Etiology?
Plasma volume?
RBC mass?
SaO2?
EPO level?
```
EPO-producing tumours
Normal
Increased
Normal
Increased
928
52 year old man is brought to the ED due to worsening right leg pain, fever and confusion. The patient injured his leg while operating a motorised watercraft on the ocean near Florida 2 days ago. Temp is 38.9 C, BP is 90/50 and pulse 120/min. The patient is lethargic and diaphoretic. Physical exam reveals a small laceration on the dorsum of the right foot with surrounding edema, erythema and several hemorrhagic bullae. Leukocyte count and serum lactic acid levels are elevated. Cultures yield curved gram-negative rods.
Diagnosis?
Epidemiology?
Manifestations?
Vibro vulnificus
High concentrations in warm months
Ingestion (raw oysters) or wound infection
Increased risk in those with liver disease and iron overload
Rapidly progressive
Septicemia
Cellulitis - hemorrhagic bullae, necrotizing fasciitis
929
```
Aplastic anemia -
Pathogenesis?
Causes?
Lab findings?
Biopsy?
```
Bone marrow failure due to hematopoietic stem cell deficiency (CD 34+)
Autoimmune
Infections (Parvovirus B19, EBV)
Drugs (carbamazepine, chloramphencol, sulfonamides)
Exposure to radiation or toxins (Benzene, solvents)
Anemia (fatigue, weakness, pallor)
Thrombocytopenia (muscosal bleedings, easy bruising, petechiae)
Leukopenia - recurrent investigations
Hypocellular bone marrow with fat and stromal cells
930
Acute pruritus following morphine is caused by?
Ig-E independent mast cell activation
931
Intense pruritus in the pubic area with excoriations due to scratching. Transmission during sexual contact (condoms don't help)
Translucent parasite with crab-like claws
Diagnosis?
Treatment?
Phthirus pubis (human pubic louse)
Topical permethrin cream - blocks parasite sodium ion conduction in nerve cell membrane channels and results in louse paralysis and death
932
Function of enteropeptidase?
| Effect of deficiency?
Duodenal brush border enzyme responsible for activation of trypsin
Protei and fat malabsorption as trypsin is required to activate for digestion
Causes diarrhea, failure of thrive, and edema
933
Vemurafenib -
What is it?
Who is it used for?
Potent inhibitor of mutated BRAF that has significant anti-tumor effects
Improved survival and long-term outcomes in advanced stage V600E-positive melanoma patient
934
Surface ectoderm derivatives
```
Anterior pituitary (Rathke pouch)
Lens and cornea
Inner ear sensory organs
Nasal and oral epithelial lnings
Epidermis, sweat and mammary glands
```
935
RB -
Type of gene?
Where in the cycle does it work?
Manifestations?
Tumour suppressor gene
G1/S transition inhibitor
Retinolastoma
Osteosarcoma
936
Ecological study
Using population level data as a unit of analysis rather than individuals
937
25 year old woman is brought to the ED due to progressive lethargy. For the last 3 weeks, she has also had loss of appetite, constipation, muscle weakness and increased thirst and urination. She takes no prescription medications but has been taking large doses of vit D supplements in the belief that are beneficial for her health. On physical exam, she is stuporous and has dry mucous membranes. The metabolic abnormality most likely responsible?
Effect of excess vitamin D?
Sarcoidosis
Symptomatic hypercalcemia with impaired depolarization of neuromuscular membranes (e.g. muscle weakness, constipation, confusion) and impaired concentration of urine in the distal tubule (polyuria/polydipsia)
Chronic vit D intoxication can also lead to renal stone formation and bone demineralisation with associated bone pain
938
```
Pleuropulmonary asbestosis -
When do symptoms begin?
CT radiography?
Histopathology?
Risk of malignancy?
```
20-30 years after initial exposure - dyspnea, cough and fatigue
Bilateral parenchymal fibrosis, most predominant in the lower lungs; honeycombing and upper lung involvement occur in advanced disease
Diffuse interstitial fibrosis in associated with ferruginous bodies
Bronchiogenic carcinoma
939
Maintenance dose formula
C(pss) x CL/[Bioavailability fraction]
940
46 year old woman comes with persistent diarrhea, weight loss and abdo pain. Her diarrhea started several months ago. The patient has not traveled outside of the country and has not drunk from any untreated freshwater sources. She has had no recent hospitalisations or antibiotic use. Her sister has a hx of celiac disease. Upper endoscopy reveals postbulbar duodenal and jejunal ulcers.
Tumor secreting which?
Diagnosis?
Gastrin
Zollinger-Ellison syndrome
941
Pancreatic adenocarcinoma -
| Risk factors?
Age >65
Smoking
Chronic pancreatitis
```
Genetic predisposition -
Hereditary pancreatitis
Peutz-Jeghers syndrome - STK11 gene chromosome 19
MEN syndromes
Hereditary nonpolyposis colon cancer
```
942
```
Sarcoidosis -
Epidemiology?
Clinical?
Imaging?
Laboratory?
Pathology?
```
Young adults, african americans
Constitutional symptoms, cough, dyspnea and chest pain, extrapulmonary findings (skin lesions, ant/post uveitis, Lofgren syndrome)
Bilateral hilar adenopathy
Pulmonary reticular infiltrates
Hypercalcemia/hypercalciuria
Elevated serum ACE level
Biopsy showing noncaseating granulomas that stain negative for fungi and acid-fast bacilli
943
```
A 4 year old boy is brought in by his parents for evaluation of a fever that has persisted for the past 5 days. He has also been more irritable that usual and had 2 or 3 episodes of vomiting. The patient has no prior medical problems and takes no meds. He has received all recommended vaccinations. he traveled t China last year to visit his grandparents and cousins but has no traveled outside this year. Temp is 38.9 C. Physical exam shows bilateral conjunctival injection with no exudates. His tonigue is bright red and lips are cracked. Nonpitting edema is present on his hands and feet.
Diagnosis?
Pathogenesis?
Characteristics?
Complication?
Treatment?
```
Kawasaki disease
Vasculitis of medium-sized arteries that affects young children (<5 yrs)
Fever for >5 days
Bilateral non-exudative conjunctival injection
Cervical lymphadenopathy
Mucositis "strawberry tongue"
Extremity changes - edema of hands and feet, palms and soles
Rash
Coronary artery aneurysms
Aspirin and IVIG
944
23 year old man comes of the office due to a rapidly enlarging left jaw mass that has developed over the past several weeks. The patient is a political refugee from East Africa. He has no known medical problems and takes no medications. Temperature 37.1 C. Physical examination shows a large left-sided tumor on his jaw with surrounding lymphadenopathy but no erythema or warmth. HIV testing is negative. The lesion is biopsied and numerous mitotic figures and apoptotic bodies are observed on histopathologic examination.
Diagnosis?
Genetic features?
Associated infection?
Burkitt lymphoma
Translocation of the c-Myc gene on chromosome 8, usually onto the Ig heavy chain region of chromosome 14 [t(8;14)]. This leads to overexpression of the c-Myc oncogene and tumor growth
Epstein-Barr virus infection
945
```
5 month old boy is brought to the office due to poor feeding. His mother says that he has difficulty holding his head up while breastfeeding and his suckling seems weaker than it used to be. His current weight is between 5th-10th percentile and length and head circumference are tracking along 25th percentile. Physical examination shows hepatomegaly and hypotonia in all 4 limbs. cardiac auscultation reveals a gallop rhythm and CXR shows severe cardiomegaly. Muscle biopsy shows enlarged lysosomes containing periodic acid-Schiff positive material.
Diagnosis?
Pathogenesis?
Classic presentation?
Muscle biopsy?
```
Pompe disease - glycogen storage disease type II
Deficiency of acid alpha-glucosidase (acid maltase), an enzyme responsible for breaking down glycogen within the acidic environment of lysosomes
Presents in early infancy with marked cardiomegaly, severe generalised hypotonia, macroglossia and hepatomegaly. Blood glucose levels are normal
Accumulation of glycogen in lysosomes
946
A 23 year old Caucasian male who notes recurrent severe nosebleeds is found to have pink spider-like lesions on his oral and nasal mucosa, face and arms.
Diagnosis?
Characterised by?
Osler-Weber-Rendy syndrome (hereditary hemorrhagic telangiectasia)
Autosomal dominant inheritance of congenital telangiectasias to the skin and mucous membranes.
947
Conversion of testosterone to DHT
5 alpha reductase
948
Timolol eye drops -
Type of drug?
Used for?
Non selective beta blocker
Open-angle glaucoma - Diminishes secretion of aqueous humour
949
How long does this insulin last:
Glargine, Detemir?
NPH?
Lispro, Aspart, Glulisine?
Once daily
Twice daily
Peak (0.5-3 hours)
950
A 6 month old boy is brought to the ED by his mother because of recent onset of vomiting, irritability and jaundice. The infant was born at term and has been healthy until onset. All of the vaccinations are up to date. He has been breast-fed exclusively until 1 week ago, when cereals and fruit juices were introduced into his diet. Further evaluation reveals hepatomegaly and abnormal LFTs.
Deficient enzyme?
Aldolase B deficiency
Can lead to failure to thrive, hepatomegaly and jaundice
951
36 year old woman brought to ED with sudden-onset right side weakness and speech difficulty. During the last 3 weeks, the patient has experienced progressive fatigue, malaise and low grade fevers. She had a dental extraction 5 weeks ago, which was uncomplicated. The patient has never been previously significantly ill. Never traveled outside of the USA and doesn't use tobacco, alcohol or drugs. The patient dies 2 hours later. Gross autopsy shows large, friable irregular masses attached to the atrial surface of a valve.
Diagnosis?
Predisposing factor?
Subacute infective endocarditis
Mitral valve prolapse
952
Point mutation affecting the gene responsible for neurophysin synthesis?
Diabetes insipidus
953
What is heteroplasmy?
Having different mitochondrial genomes within a single cell
954
Capitation payment?
Health maintenance provider networks
955
42 year old previously healthy woman comes to office with fever and sore throat. Physical exam shows tonsillar exudate and a nontender cervical lymph node measuring in 3.5 cm. Oral abx therapy is started and she reports symptoms have resolved. The previously enlarged cervical lymph node has decreased slightly in size. Patient remains asymptomatic and the size of lymph node fluctuates but does not disappear completely.
What will be seen in biopsy?
Gene?
Follicular lymphoma - indolent non-Hodgkin lymphoma and B cell origin
t(14;18) translocation resulting in overexpression of the bcl-2 oncogene that blocks programmed cell death
956
Causes of fibrinoid necrosis?
| Morphology?
HTN, vasculitis
Damaged vessels leak fibrin/immune complexes
Eosinophilic layer of proteinaceous material in vessel walls
957
Fat necrosis -
Causes?
Morphology?
Acute pancreatitis, trauma
FFA released by active enzymes or mechanical damage
Fatty acids combine with calcium forming chalky-whte deposits
958
Coagulative necrosis -
Causes?
Morphology?
Irreversible ischemic injury outside CNS
Cells are anucleate with eosinophilic cytoplasm
Leukocytes eventually infiltrate and digest necrotic tissue
959
18 year old man undergoes umbilical hernia repair under general anesthesia without any complications. 4 days later, patient develops fever, lethargy, nausea and vomiting. Scleral icterus is present. Abdomen is nondistended and soft with mild right upper quadrant tenderness. Markedly elevated AST, ALT and bilirubin. Liver biopsy is consistent with centrilobular hepatic necrosis.
Drugs used?
Diagnosis?
Desflurane
Acute hepatitis
960
Pathogenesis of achondroplasia?
Endochondral ossification that makes long bones and portions of the skull and face. FGFR3 becomes activated causing exaggerated inhibition of chondrocyte proliferation
961
Pathogenesis of Meniere disease?
Inner ear characterised by increased volume and pressure of endolymph
962
Acute stress disorder -
| time frame?
Lasting >3 days and <1 month
963
Duodenal intestinal atresias -
Pathophys?
Clinical findings?
Associations?
Failure of recanalisation at 8-10 weeks gestation
Billous or nonbilous emesis
Double-bubble sign on X-ray
Down syndrome
964
Jejunum/ileum atresias -
Pathophys?
Clinical findings?
Associations?
Vascular injury
Billours emesis
Abdo distension
Gastroschisis
965
Colonic intestinal atresias -
Pathophys?
Clinical findings?
Associations?
Unknown
Constipation
Abdominal distension
Hirschsprung disease
966
22 year old man comes due to recurrent blistering on the back of his hands and forearms. Patient usually develops small sports but now its been large blisters that heal with hyper pigmentation after rupture. Topical hydrocortisone and emollients have not worked. He works as a night security guard. He drinks 2-3 cans of beer daily. Physical exam shows vesicles and erosions on the dorsum of both hands.
Diagnosis?
Deficient enzyme?
Porphyria cutanea tarda - porphyrin synthesis
Uroporphyrinogen decarboxylase deficiency
967
Abciximab -
What is it?
Mechanism?
Used for?
GP IIb/IIIa receptor antagonist
Inhibits binding of this receptor to fibrinogen.
Unstable angina and acute coronary syndrome, particularly in patients undergoing percutaneous coronary intervention.
968
12 year boy is evaluated for chronic headaches and visual changes. The headaches have progressively worsened over the past year and are associated with nausea. An intracranial calcified mass is detected on brain imaging. The mass is surgically removed and on gross inspection shows cystic spaces filled with thick, brownish yellow fluid that is rich in cholesterol.
What is mass derived from?
Anterior pituitary
Craniopharyngioma
969
What is used in heparin OFD to reverse the effects?
Protamine sulfate
970
```
A caucasian male who suffers from a severe neurological disease dies of an overwhelming respiratory infection. Autopsy shows an atrophic precentral gyrus and thin anterior roots of the spinal cord. Light microscopy reveals a severe loss of neurons in the anterior horn if the spinal cord and in the hypoglossal and ambiguous cranial nerve nuclei; corticospinal tracts stain only faintly, indicating demyelinization.
Diagnosis?
Age of onset?
Prognosis?
Common cause of death?
Genetic?
Treatment?
```
Amyotrophic lateral sclerosis
Middle aged
Within 5 years of diagnosis
Respiratory complications
Mutation of gene that codes for copper-zinc superoxide dismutase (SOD1)
Riluzole
MOA: decreases glutamate release
971
Actinic keratosis - risk of developing?
Squamous cell carcinoma
972
Psoriasis is characterised by?
Hyperkeratosis
Epidermal hyperplasia
Neutrophilic foci
973
Treatment of panic disorder -
First line/maintenance?
Acute distress?
SSRI/SNRI and/or CBT
Benzodiazepines
974
Teratogenic medication effect -
| Phenytoin?
Neural tube defects, orofacial clefts, microcephaly, nail or digit hypoplasia
975
Teratogenic medication effect -
| Lithium?
Ebstein anomaly, nephrogenic diabetes insipidus, hypothyroidism
976
Teratogenic medication effect -
| Valproate?
Neural tube defects
977
Teratogenic medication effect -
| Isotretinoin?
Microcephaly, thymic hypoplasia, small ears, hydrocephalus
978
Teratogenic medication effect -
| Methotrexate?
Limb and craniofacial abnormalities, NTDs, abortion
979
Teratogenic medication effect -
| ACE inhibitors?
Renal dysgenesis, oligohydramnios
980
Teratogenic medication effect -
| Warfarin?
Nasal hypoplasia, stippled epiphysis
981
```
8 year old boy is brought to the office due to a lower extremity skin rash for the past 3 days. The rash began as tender papules that quickly progressed to form vesicles and flaccid bullae that rupture easily. The patient has no mucosal lesions or other rashes. He is up to date with his vaccinations.
Diagnosis?
Pathogen?
Pathogenesis?
Spread?
```
Bullous impetigo - blistering skin rash with tan- to honey-colored crusts
Staph aureus
Blistering is caused by production of exfoliative toxin A, a serine protease that targets desmoglein 1 in the superficial epidermis. Desmoglein is a cadherin component of desmosomes in epidermal cellular junctions.
Spread by direct contact
982
21 year old woman volunteers in a research study evaluating the effects of viral infection on immunoglobulin production. The patient is a college student who has no past medical history and does not take any medications. She has not felt ill recently. The mature B lymphocytes exposed to a specific virus in vitro acquire the ability to proliferate indefinitely while maintaining the capacity to secrete immunoglobulins.
Test used to diagnose?
Pathogen?
Heterophile antibodies
EBV
983
Difference between osteosarcoma and myositis ossificans on XR
Myositis is seperate from bone
984
24 yer odl man comes into ED with painful erection fo past 6 hours. PMH is significant for treatment-resistant major depressive disorder, OCD, and insomnia. Smokes a pack a day for 2 years and drinks 1/2 cans a day. Examination reveals engoged corpora cavernosa.
Drug that caused it?
Trazodone - sedating antidepressant (used off label for insomnia)
Has side effect of priapism
985
Epithelia of ovary?
| Key features?
Simple cuboidal
Rapidly proliferate to repair ovulatory surface
986
Epithelia of fallopian tube?
Simple columnar
987
Epithelia of uterus?
| Features?
Simple columnar
Sloughs off during menstraution (stratum functionalis)
Prolonged estrogen exposure prevents shedding, resulting in hyperplasia
988
Epithelia of cervix - ecto and endo?
| Features?
Ectocervix - Stratified squamous non-keratinized
Endocervix - Simple columnar
Secrete mucus
989
Vagina epithelia
Stratified squamous non-keratinized
990
Prominent intracytoplasmic granules that are tinged yellow-ish brown in the myocardium -
Pigment?
Indication?
Due to?
Lipfuscin
Wear and tear/aging
Free raduca injury and lipid peroxidation
991
```
Neisseria Gonorrhea -
Presentation?
Gram stain?
Epidemiology?
Testing?
Treatment?
```
Dysuria and penile discharge
Gram negative intracellular diplococcus
Second most common STD
Nucleic acid amplification testing
Ceftriaxone and azithromycin (third gen cephalosporin and macrolide)
992
What cells secrete Intrinsic factor?
Parietal cells in body and fundus of the stomach
993
24 year old woman with gravida 1 para 0 at 26 weeks gestation comes to the ED due to abdo cramping and vaginal bleeding. She recently emigrated Bolivia and reports no prior medical problems. Tthe patient spontaneously delivers a still born fetus with multiple congenital malformations. Viral RNA of a neutropic virus is detected. Transplacental transmisssion of this virus causes apoptosis of neural progenitor cells in developing fetus, leading to disruption of neuronal proliferation, migration and differentiation.
Diagnosis?
Clinical features?
Pathogenesis?
Labs?
Congenital Zika virus
Newborn with microcephaly, craniofacial disproportion. Along with neurologic abnormalities and ocular abnormalities.
Single stranded RNA Flavivirus, transplacental transmission to fetus, targets neural progenitor cells
Neuroimaging - Calcifications, ventriculomegaly, cortical thinning
994
Bluish neoplasm under the nail bed -
Ddx?
Function?
Subungal melanoma - pigmentation by melanocytes
Glomus tumour (glomangioma) - Thermoregulation
995
Cholestyramine, colestipol, colesevelam -
Type of drug?
Mechanism of action?
Side effects?
Bile acid-binding resins
Binding bile acids in the GI tract and inhibiting enterohepatic circulation
Leads to diversion of hepatic cholesterol to synthesis of new bile acids, increased uptake of LDL cholesterol from the circulation and reduced blood LDL levels
GI upse and impaired absorption of nutrient and brugs
Also increased release of triglycerides --> hypertriglyceridemia
996
Gilbert syndrome -
Pathogenesis?
Presentation?
Triggers?
Common familial disorder of bilirubin glucoronidation in which the production of UDP glucuronyl transferases is reuced.
Patients with no apparent liver disease who have mild unconjugated hyperbilirubinemia
Hemolysis, fasting, physical exertion, febrile illness, stress and fatigue
997
```
45 year old Caucasian male presents with 2 year hx of abdo discomfort, greasy stool and weight loss. He has been treated for joint pain with ibuprofen. An intestinal biopsy shows multiple macrophages loaded with PAS-positive granules in the lamina propria.
Diagnosis?
Pathogen?
Gram stain?
Treatment?
```
Whipple disease
Tropheryma whippelii
Gram positive with rod bacilli
Antibiotics
998
45 year old smoker with a hx of HTN and diabetes mellitus comes to ED with severe substernal pain. ECG and enzymes show ST elevation MI. He undergoes cardiac catheterization but develops cardiogenic shock requiring vasopressors afterwards. The patient evntually dies from VF after a week. Autopsy shows bilateral wedge-shaped strips of necrosis over the cerebral convexity, parallel to and a few cm lateral to longitudinal cerebral fissure.
Diagnosis?
Hypoxic-ischemic encephalopathy.
999
Most common cause of Budd Chiari syndrome
Polycythemia vera - overproduction of RBC leading to thrombosis
1000
Why does CO binding cause decrease in SaO2?
CO binds Hb more avidly that O2
1001
Reversible injury findings
Cellular swelling - loss of microvilli, membrane blebbing and swelling of RER
(Sodium buildup in the cell causes H2O to build up also)
1002
Main differences between necrosis and apoptosis
Necrosis - inflammation occurs afterwards and NOT physiologic
1003
What happens for red infarction to occur?
Blood must re-enter tissue
| Tissue must be loosly organised
1004
Saponification?
Fatty acids that are released by trauma or lipase join with calcium
1005
30 year old woman with fibrinoid necrosis what could it be?
Pre-eclampsia
| usually occurs due to malignant HTN and vasculitis
1006
Intrinsic mitochondrial pathway of apoptosis
Cytochrome C
Bcl 2 role is to stabilise membrane and prevent cytochrome C being released
This activates caspases
1007
Extrinsic receptor ligand pathway of apoptosis examples
FAS ligand binding FAS death receptor (CD95) on trget cell
| TNF binds TNF receptor on target cell
1008
Cytotoxic CD8 T cell pathway of apoptosis
Perforins create pores in membrane
| Granzyme enters pores and activates caspases
1009
Enzymes for free radicals
Superoxide dismutase
Glutathione peroxidase
Catalse (hydrogen peroxide)
1010
Familial Meditteranean fever -
Pathogenesis?
Epidemiology?
Presentation?
Dysfuction of neutrophils - autosomal recessive
Mediteranean origin
Episodes of fever and acute serosal inflammation
High SAA during attacks deposits as AA amyloid
1011
Where is P-selectin released from?
Weibel-Palade bodies in endothelial cell (mediated by histamine)
1012
What induces E-selectin
TNF and IL-1
1013
Leukocyte Adhesion Deficiency -
Inheritance?
Clinical features?
Autosomal recessive defect of integrins (CD18)
Delayed seperation of the umbilical cord
Increased circulating neutrophils
Recurrent bacterial infections that lack pus formation
1014
Chediak-Higashi syndrome -
What is it?
Pathogenesis?
Clinical features?
Protein trafficking defect
Charaterised by impaired phagolysosome
```
Increased risk of pyogenic infections
Neutropenia
Giant granules in leukocytes - produced by golgi
Defective primary hemostasis
Albinism - light skin and silvery hair
Peripheral neuropathy
```
1015
MPO deficiency - symptoms?
Increased risk of Candida infections
| NBT test turns blue
1016
Granulomatous inflammation -
Type of inflammation?
Key cell?
Chronic
```
Epithelioid histiocytes (macrophage with abundant pink cytoplasm)
Surrounded by giant cells and rim of lymphocytes
```
1017
Specific feature of noncaseating granuloma
| Examples?
Lacks central necrosis
```
Reaction of foreign material
Sarcoidosis - multiple tissues like lung
Beryllium exposure
Crohn disease
Cat scratch disease
```
1018
Histologic hallmark of ulcerative colitis
Crypt abscess
1019
Common variable immunodeficiency -
Pathogenesis?
Risks?
Low immunoglobulin due to B-cell of helper T-cell defects
Bacterial, enterovirus, giardia and also autoimmune disease and lymphoma
Present late in life
1020
Hyper IgM syndrome -
| Pathogenesis?
Due to mutated CD40 or CD40L receptor
Second signal cannot be delivered to helper T cell during b cell activation
Ig switching cytokines not produced
Low IgA, IgG and IgE --> recurrent pyogenic and mucosal infections
1021
AIRE mutation -
| Classic triad
Hypoparathyroidism
Adrenal failure
Chronic candida infections
1022
Peripheral tolerance
Antigen recognised without costimulation signal then it will undergo anergy or apoptosis
CD95 (FAS) Death receptor
If it expresses FAS ligand then cell will undergo apoptosis
1023
Regulatory T cells -
How do they work?
Polymorphisms/mutations?
Block T cell activation
CD4+, CD25+ (IL-2 receptor), FoxP3+
CD25+ polymorphisms - autoimmunity - MS and type 1 DM
FOXP3 mutations - IPEX syndrome (endocrinopathy, eczema X-linked)
1024
Environmental triggers of autoimmunity in genetically susceptible patients
Increased incidence in twins
| HLA-B27 and PTPN22 polymorphisms (tyrosine phosphotase -> gain of function)
1025
```
Systemic lupus erythematous -
Epidemiology?
Risk factors?
Pathogenesis?
Clinical features?
ANA antibody?
Better tests?
```
Middle aged females
More common in african-americans and hispanics
Patients with early complement deficiency have increased risk of developing
Antigen-antibody complexes (Hypersensitivity type III)
```
Fever, weight loss and fatigue
Lymphadenopathy and raynaud
Malar rash or discoid rash (circular)
Oral or nasopharyngeal ulcers
Arthritis
Serositis
Psychosis or seizures
Renal damage (glomerulonephritis)
Anemia, thrombocytopenia or leukopenia (hypersensitivity type 2)
Libman-Sacks endocarditis
```
Sensitive but not specific
Better are anti-dsDNA (disease activity) and anti-Smith are specific
1026
What is antiphospholipid antibody?
APA syndrome?
Autoantibody against proteins bound to phospholipin
Anticardiolipin (Syphilis - VDRL and RPR)
Lupus anticoagulent (falsely elevated PTT)
Anti-B2-glycoprotein I
Antiphospholipid antibody and hypercoaguable state
In deep venous, hepatic vein, placental and cerebral thrombosis
1027
Treatment of SLE
| Prognosis?
Avoid sun
Glucorticoids (flare)
Other immunosuppresive agents
>90% 5 year survival (renal failure and infection most common cause of death)
1028
```
Sjoren syndrome -
What is it?
Pathogenesis?
Clinical features?
Labs?
Risks?
```
Autoimmune destruction of lacrimal and salivary glands
Lymphocyte mediated damage (yupe IV hypersensitivity)
Dry eyes, dry mouth, recurrent dental caries
(can't chew a cracker, dirt in my eyes)
ANA and anti-ribonucleoprtein
Anti-SSA and SSB - risk of neonatal lupus and congenital heart block (screen pregnant women)
Risk of B-cell lymphoma is increased
Presents as unilateral enlargement of parotid late in disease course
1029
Scleroderma (systemic sclerosis) -
Where?
Pathogenesis?
Skin and visceral organs
Deposition of collagen in tissue by fibroblasts
1030
Widespread musculoskeletal pain with fatigue. Impaired attention and concentration, psychiatric disturbances (>3 months)
Physical exam shows multiple tender points at characteristic locations not no inflammation.
Fibromyalgia
1031
Mixed connective tissue disease -
What is it?
Testing?
Presentation?
Mixed features of SLE, sclerosis and polymyositis
ANA with serum antibodies against U1 ribonucleoprotein
Often have raynaud, no Renal or CNS involvement, severe arthritis and pulmonary HTN
1032
Bone marrow stem cells - cytokine?
CD34+
1033
Initial phase of repar?
| What are the major components?
Granulation tissue
Fibroblasts (deposit type III collagen)
Capillaries (provide nutrients)
Myofibroblasts (contract wound)
1034
Scar formation
Type III collagen converted to Type I collagen
| Collagenase removes the type III collagen and requires Zinc as cofactor
1035
Types of collagen
Type I - Bone
Type II - Cartilage
Type III - Blood vessels
Type IV - Basement membrane
1036
How does Vit C impair wound healing?
Proline doesn't get hydroxylated
1037
How does copper impair wound healing?
Can't cross link collagen - done by lysl oxidase
1038
```
Associated cancer - Chemicals
Aflatoxins?
Alkylating agents?
Alcohol?
Arsenic?
```
Hepatocellular carcinoma (from Aspergillus)
Leukemia/lymphoma (side effect of chemo)
Squamous cell carcinoma of oro and upper esophagus, pancreatic carcinoma, hepatocellular carcinoma
Squamous cell carcinoma of skin, lung cancer and angiosarcoma of liver
1039
```
Associated cancer - Chemicals
Asbestos?
Cigarette smoke?
Nitrosamines?
Naphthylamine?
Vinyl chloride?
Nickel/beryllium/chromium/silica?
```
Lung carcinoma and mesothelioma
Carcinoma of oropharynx, esophagus, lung, kidney and bladder
Stomach carcinoma (smoked foods)
Urothelial carcinoma (smoke)
Angiosarcoma of liver (occupational - PVC in pipes)
Lung carcinoma (occupational exposure)
1040
```
Associated cancer - Oncogenic viruses
EBV?
HHV-8?
HBV and HCV?
HTLV-1?
High risk HPV (16,18,21,33)?
```
Nasopharyngeal carcioma, burkitt lympjoma and CNS lymphoma (Neck mass in chinese male)
Kaposi sarcoma (AIDS, transplant)
Hepatocellular carcinoma
Adult T-cell leukemia/lymphoma
Squamous cell carcinoma of vulva, vagina, anus and cervix; adenocarcinoma of cervix
1041
Associated cancer - radiation
Ionizing?
Nonionizing? (UVB)
AML, CML, papillary carcinoma of the thyroid
Basal cell carcinoma, squamous cell carcinoma, melanoma
1042
Xeroderma pigementosum -
| Pathogenesis?
Restruction endonucleases not working properly
1043
Growth factor proto-oncogene -
What is it?
Pathogenesis?
Presents as?
PDGFB - Platelet derived growth factor
Overexpression -> autocrine loop
Astrocytoma
1044
ERBB2 [HER/neu) proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Growth factor receptor proto-oncogene
Epidermal growth factor receptor
Amplification
Breast carcinoma
1045
RET proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Neural growth factor receptor
Point mutation
MEN2A, MEN 2B and sporadic medullary carcinoma of thyroid (if genetic show ret mutation then take out thyroid prophylactically)
1046
KIT proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Stem cell growth factor receptor
Point mutation
GI stromal tumour
1047
RAS gene family proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Signal transducer - GTP binding protein
Point mutation
Carcinomas, melanomas, lymphoma
1048
ABL proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Singal transducer - Tyrosine kinase
t(9;22) with BCR (Philidelphia chromosome)
CML and some ALL (in adults)
1049
c-MYC proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Nucelar regulators - Transcription factor
t(8;14) involving IgH
Burkitt lymphoma
1050
N-MYC proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Nucelar regulators - Transcription factor
Amplification
Neuroblastoma (starry sky)
1051
L-MYC proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Nucelar regulators - Transcription factor
Amplification
Lung carcinoma (sall cell)
1052
CCND1 (cyclin D1) proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Cell cycle regulators - Cyclin
t(11;14) translocation involving IgH
B cells overexpression heavy chain on chromosome 14
Increased cyclin D so cell cycle moves from G1 to S phase
Mantle cell lymphoma
1053
CDK4 proto-oncogene -
What is it?
Pathogenesis?
Presents as?
Cyclin dependent kinase
Amplification
Melanoma
1054
```
Scabies -
Pathogen?
Transmission?
Pathogenesis?
Treatment?
```
Sarcoptes scabiei
Prolonged skin-to-skin contact with infected individuals
Mites burrow into the epidermis and evoke a delayed-type hypersensitivity reaction leading to pruritic rash
Topical permethrin - Blocks mite neurotransmission by impairing voltage-gated sodium channels
Oral ivermectin - an anti parasitic agent that binds chloride ion channels in invertebrate nerve and muscle cells
1055
```
Nocardiosis -
Microbiology?
Epidemiology?
Clinical features?
Treatment?
```
Gram positive rod, partially acid-fast, aerobic
Endemic in soil , immunocompromised or elderly patients, disease from spore inhalation
Pneumonia, CNA involvement, cutaneous involvement
Trimethoprim-sulfamethoxazole
Surgical drainage of abscesses
1056
Selegiline -
Type of drug?
Used for?
MAO type B inhibitor
Delay progression of Parkinson disease
1057
Treatment of trigeminal neuralgia
Carbamazepine
1058
Widespread musculoskeletal pain with fatigue. Impaired attention and concentration, psychiatric disturbances (>3 months)
Physical exam shows multiple tender points at characteristic locations not no inflammation.
Fibromyalgia
1059
Deer hunting trip.
Blood shows mulberry-shaped, intracytoplasmic inclusions in monocytes
Pathogen?
Transmission?
Ehrlichia chaffeensis
Tick bite
1060
What happens if p53 finds mutation at G1?
First upregulates repair enzymes if that fails then it calls Bax and it destroys Bcl2 which is stabilising mitochondrial membrane so cytochrome C leaks out activating caspases --> apoptosis
1061
Inheriting one bad copy of p53 -
What is it called?
Increased risk?
Li-Fraumeni syndrome
Multiple types of carcinomas and sarcomas
1062
Function of Rb?
Also regulates G1 to S phase
| Holds E2F transcription factor (released when Rb is phosphorylated by cyclinD/CDK4 complex)
1063
Sporadic mutaton of Rb - presentation?
Unilateral retinoblastoma
1064
Germline mutaton of Rb - presentation?
Bilateral retinoblastoma, osteosarcoma
1065
Characteristics for spread of tumour
Downregulation of E-cadherin
Cells attach to laminin and destroy BM
Cells attach to fibronectin in extracellular matrix and spread locally
Entrance into vascular or lymphatic spaces allows for metastases
1066
Where to carcinomas initially spread?
Lymphatics
1067
How to sarcomas tend to spread? (and some carcinomas)
Hematogenous spread
| (Renal cell - renal vein; Hepatocellular carcinoma - hepatic vein; Follicular carcinoma of thyroid; Choriocarcinoma
1068
What type of tumour seeds body cavities?
Ovarian carcinoma
| Cancer replaces the omentum (omental caking)
1069
```
Intermediate filaments -
Epthelial cell?
Mesenchyme?
Muscle?
Neuroglia?
Neurons?
```
Keratin (if a tumour is keratin then its a carcinoma cause its epithelial)
Vimentin (sarcoma)
Desmin
GFAP
Neurofilament
1070
What does chromogranin indicate?*
Neuroendrocrine cells (small cell carcinoma of lung and carcinoid tumour)
1071
What does S-100 indicate?
Melanoma
1072
Where does vWf come from?
Platelet and endothelial cell - Weibel-Palate body
1073
Steps of primary haemostasis?
1) Transient constriction of damaged vessel (endothelin)
2) Platelet adhesion (vWF will bind collagen and Platelets bind vWF using GPIb receptor)
3) Platelet degranulation (release of ADP and TXA2)
4) Platelet aggregation (Using GpIIb/IIa using fibrinogen as linking molecule)
1074
Primary hemostasis disorders -
| Key characteristics?
Mucosal (Epistaxis, Gi bleed, monrrhagia, intracranial bleeding) and skin bleedings (petechia, purpura, ecchymoses, easy brusing)
1075
Immune thrombocytopenia purpura -
What is it?
Where are antibodies produced?
Autoimmune production of IgG against platelet antigens (most common cause of thrombocytopenia)
Produced by plasma cell in spleen and consumed by macrophages in the spleen
1076
Acute ITP -
When do youu see it?
Treatment?
Weeks after viral infection or immunization
| Self-limited usually resolves within few weeks
1077
Chronic ITP -
Who gets it?
Effect?
Women of child bearing age
Short-lived thrombocytopenia in offspring as the anti-platelet IgG can cross placenta
1078
Microangiopathic hemolytic anemia -
What is it?
Complications?
When does it occur?
Pathologic formation of platelet microthrombi in small vessels
Platelets are consumed and RBCs are sheared resulting in hemolytic anemia with *schistocytes (2 points and no white center - looks like a helmet)
TTP and HUS
Prosthetic heart valves, aortic stenosis
1079
```
TTP (Thrombotic thrombocytopenic purpura) -
Why do thrombi form?
Classic patient?
Clinical features?
Management?
```
Decreased ADAMSTS13
Normally it cleaves vWF into smaller monomers - large uncleaved multimers lead to the microthrombi
Adult female with autoantibody
Hemolytic anemia with schistocytes, thrombocytopenia, renal failure, fever
Plasma exchange
Glucocorticoids
Rituxximab
1080
HUS (Hemolytic uremic syndrome) -
Why do thrombi form?
Classic patient?
Infection with E.coli O157:H7 causes toxin called e.coli verotoxin that cause thrombi to form and they go kidney and brain and cause damage
Children who get exposure to undercooked beef
1081
Clinical findings of HUS and TTP
| Treatment?
```
Skin and mucosal bleedings
Microangiopathic hemolytic anemia
Fever
Renal insufficiency (mainly HUS)
CNS abnormalities (mainly TTP)
```
Plasmaphoresis and corticosteroids
1082
Bernard-Soulier syndrome -
Pathogenesis?
Blood smear?
Genetic GP1b deficiency - platelet adhesion is impaired
Mild thrombocytopenia with enlarged platelets
1083
Glanzmann thrombasthenia -
| Pathogenesis?
Genetic GIIb/IIIa deficiency - platelet aggregation is impaired
1084
Vessel thrombosis, mental retardation, lens dislocation and long slender fingers
High levels of homocystein with homocystinuria
Diagnosis?
Cystathionine beta synthase (CBS) deficiency
1085
Virchow's triad?
Stasis of blood flow
Endothelial injury
Hypercoagualability
1086
Factor V Leiden -
| Pathogenesis?
Mutated from of factor V that lacks cleavage site for deactivation by protein C and S - Inability to shut it off --> hypercoaguable state
1087
Factor V Leiden -
| Pathogenesis?
Mutated from of factor V that lacks cleavage site for deactivation by protein C and S - Inability to shut it off --> hypercoaguable state
1088
Prothrombin 20210A -
Inheritance?
Pathogenesis?
Point mutation in prothrombin
Increase gene expression promoted thrombus formation
1089
When do you get a gas embolus?
| Chronic?
Divers who come up rapidly and nitrogen in the blood comes out as gas bubbles - joint and muscle pain and resp symptoms "bends and chokes"
Laproscopic surgery
Caisson disease - multifocal ischemia of the bone
1090
When do you get a gas embolus?
| Chronic?
Divers who come up rapidly and nitrogen in the blood comes out as gas bubbles - joint and muscle pain and resp symptoms "bends and chokes"
Caisson disease - multifocal ischemia of the bone
1091
OCD Treatment
SSRI
| CBT (exposure and response prevention)
1092
Hereditary pulmonary arterial hypertension -
Mutation?
Inherited?
Heart sound?
BMPR2
Autosomal dominant
Loud pulmonic component of S2
1093
Where is the brain damage -
| "Split-brain syndrome"
Corpus callosum
1094
Where is the brain damage -
| Right-left confusion and difficulty with writing and mathematics. Hemi-neglect also present.
Parietal cortex
1095
```
Typhoid fever -
Pathogen?
Pathogenesis?
Gram stain?
Transmission?
Presentation (week 1, 2 and 3)?
```
Salmonella Typhi
Invade enterocytes - evade destruction due to capsular Vi antigen
Gram negative
Fecal-oral - contaminated food or water
Week 1 - Rising fever, bacteremia, relative brady
Week 2 - Abdo pain, rose sports on trunk and abdomen
Week 3 - Hepatosplenomegaly
Intestinal bleedings and perforation
1096
Pathogenesis of joint destruction in RA
Initiated by CD4+ and is characterised by synovial hyperplasia and inflammatory infiltrates. The joint space gets replaced by synovial pannus (invasive mass of fibroblast-like synovial cells, granulation tissue and inflammatory cells)
1097
Colonic manifestations of adenocarcinoma -
Colonoscopy?
Biopsy?
Protuberant mass
Dysplastic mucosal cells with ariable degree of gland formation
1098
Colonic manifestations of cytomegalocirus -
Colonoscopy?
Biopsy?
Multiple ulcers and mucosal erosions
Cytomegalic cells with inclusion bodies
1099
Colonic manifestations of Cryptosporidium -
Colonoscopy?
Biopsy?
Nonulcerative inflammation
Basophilic clusters seen on the surface of intestinal mucosal cells
1100
Colonic manifestations of Entamoeba histolytica -
Colonoscopy?
Biopsy?
Numerous discrete, flask-shaped ulcerative lesions
Trophozoites containing red blood cells
1101
Colonic manifestations of Kaposi sarcoma -
Colonoscopy?
Biopsy?
Reddish/violet, flat maculopapular lesions or hemmorrhagic nodules
Spindle-shaped tumour cells with small-cessel proliferation
1102
Colonic manifestations of Entamoeba histolytica -
Colonoscopy?
Biopsy?
Numerous discrete, flask-shaped ulcerative lesions
Trophozoites containing red blood cells
1103
Colonic manifestations of Kaposi sarcoma -
Colonoscopy?
Biopsy?
Reddish/violet, flat maculopapular lesions or hemmorrhagic nodules
Spindle-shaped tumour cells with small-vessel proliferation
1104
Colonic manifestations of Ulcerative colitis -
Colonoscopy?
biopsy?
Contiguous area of erythematous friable granular mucosa with possible pseudopolyps
Inflammatory infiltrate involving mucosa and submucosa with crypt abscesses
1105
```
15 year old boy brought to the office by his mother due to difficulty with movement. The patient enjoys playing high school bball but had to leave due to worsening symptoms. Exam shows significant kyphoscoliosisand high plantar arch, His older brother suffered from a neurologic disorder and died of heart failure at age 25.
Diagnosis?
Inheritance?
Pathogenesis?
Presentation?
```
Friedreich ataxia
Autosomal recessive disorder mutation of frataxin gene (Increased trinuceleotide repeats)
Essential mitochondrial protein involved in assembly of iron-sulfur enzymes.
This leads to decreased mitochondrial energy production and increased oxidative stress resulting in degeneration of neural tracts and peripheral nerves.
1 -Spinocerebellar and lateral corticospinal tract degeneration causes gait ataxia and spastic muscle weakness
2-Degeneration of dorsal columns and root ganglia causes loss of position and vibration
3-Kyphoscoliosis and foot abnormal
4-Hypertrophic cardiomyopathy and heart faillure
5-Diabates Mellitus
1106
Colonic manifestations of Entamoeba histolytica -
Colonoscopy?
Biopsy?
Numerous discrete, flask-shaped ulcerative lesions
Trophozoites containing red blood cells
1107
Colonic manifestations of Kaposi sarcoma -
Colonoscopy?
Biopsy?
Reddish/violet, flat maculopapular lesions or hemmorrhagic nodules
Spindle-shaped tumour cells with small-vessel proliferation
1108
Colonic manifestations of Ulcerative colitis -
Colonoscopy?
biopsy?
Contiguous area of erythematous friable granular mucosa with possible pseudopolyps
Inflammatory infiltrate involving mucosa and submucosa with crypt abscesses
1109
```
15 year old boy brought to the office by his mother due to difficulty with movement. The patient enjoys playing high school bball but had to leave due to worsening symptoms. Exam shows significant kyphoscoliosisand high plantar arch, His older brother suffered from a neurologic disorder and died of heart failure at age 25.
Diagnosis?
Inheritance?
Pathogenesis?
Presentation?
```
Friedreich ataxia
Autosomal recessive disorder mutation of frataxin gene (Increased trinuceleotide repeats)
Essential mitochondrial protein involved in assembly of iron-sulfur enzymes.
This leads to decreased mitochondrial energy production and increased oxidative stress resulting in degeneration of neural tracts and peripheral nerves.
1 -Spinocerebellar and lateral corticospinal tract degeneration causes gait ataxia and spastic muscle weakness
2-Degeneration of dorsal columns and root ganglia causes loss of position and vibration
3-Kyphoscoliosis and foot abnormal
4-Hypertrophic cardiomyopathy and heart faillure
5-Diabates Mellitus
1110
Colonic manifestations of Entamoeba histolytica -
Colonoscopy?
Biopsy?
Numerous discrete, flask-shaped ulcerative lesions
Trophozoites containing red blood cells
1111
Colonic manifestations of Kaposi sarcoma -
Colonoscopy?
Biopsy?
Reddish/violet, flat maculopapular lesions or hemmorrhagic nodules
Spindle-shaped tumour cells with small-vessel proliferation
1112
Colonic manifestations of Ulcerative colitis -
Colonoscopy?
biopsy?
Contiguous area of erythematous friable granular mucosa with possible pseudopolyps
Inflammatory infiltrate involving mucosa and submucosa with crypt abscesses
1113
```
15 year old boy brought to the office by his mother due to difficulty with movement. The patient enjoys playing high school bball but had to leave due to worsening symptoms. Exam shows significant kyphoscoliosisand high plantar arch, His older brother suffered from a neurologic disorder and died of heart failure at age 25.
Diagnosis?
Inheritance?
Pathogenesis?
Presentation?
```
Friedreich ataxia
Autosomal recessive disorder mutation of frataxin gene (Increased trinuceleotide repeats)
Essential mitochondrial protein involved in assembly of iron-sulfur enzymes.
This leads to decreased mitochondrial energy production and increased oxidative stress resulting in degeneration of neural tracts and peripheral nerves.
1 -Spinocerebellar and lateral corticospinal tract degeneration causes gait ataxia and spastic muscle weakness
2-Degeneration of dorsal columns and root ganglia causes loss of position and vibration
3-Kyphoscoliosis and foot abnormal
4-Hypertrophic cardiomyopathy and heart faillure
5-Diabates Mellitus
1114
MCV and anemia -
| What is micro. normo and macro?
Microcytic - <80
Normocytic - 80-100
Macrocytic - >100
1115
Microcytic anemia -
| Causes?
Iron deficiency anemia
Anemia of chronic disease
Sideroblastic anemia (low protoprophyrin)
Thalassemia
1116
```
Iron deficiency causes -
Infants?
Children?
Adults?
Elderly?
```
Breast feeding
Poor diet
Peptic ulcer disease (male); menorrhagia or pregnancy
Colon polyps or carcinoma; hookworm (developing)
1117
Iron deficiency anemia -
Clinical features?
Lab findings?
treatment?
Anemia
Koilonychia
Pica - eat abnormal foods like dirt ice etc.
Microcytic hypochromic
Decreased ferritin, Increased TIBC
Decreased serum iron and decreased saturation
Increased FEP
Supplemental iron (ferrous sulfate)
1118
Plummer-Vinson syndrome -
What is it?
Presentation?
Iron deficiency anemia with esophageal web and atrophic glossitis
Presents with anemia, dysphagia and beefy-red tongue
1119
Anemia of chronic disease -
Pathogenesis?
Labs?
Treatment?
Chronic inflammation means increase in acute phase reactant
Hepcidin increased which sequesters iron in storage sites limits iron transfer to erythroid precursor
This then suppresses EPO
high stores of iron so ferritin is high and decreased TIBC
Also decreased serum iron and decreased saturation
Increased FEP
Exogenous EPO
1120
Sideroblastic anemia -
| Pathogenesis?
Defect in protoporphyrin synthesis
(While it is being synthesized, iron is being transferred to erythroid percursor)
Iron comes to mitochondria as well but gets trapped there when there is low protoporphyrin
1121
Congenital cause of sideroblastic anemia?
| Acquired causes?
ALAS (rate limiting enzyme)
```
Alcoholism,
Lead poisoning (ALAD and ferro)
Vit B6 deficiency (isoniazid)
```
1122
Thalassemia -
| Pathogenesis?
Decreased synthesis of globin chains in Hb
| Decreased globin leads to decreased Hb
1123
Alpha-thalassemia -
Gene deletion details?
Chromosome?
```
Gene deletion (knockout of both)
cis deletion -> worse because increased risk of severe thalassemia in the offspring (seen in Asians)
trans deletion -> common in africa
(3 genes deleted - Severe anemia; B chains form tetramers of HbH)
```
Chromosome 16
1124
Hydrops fetalis -
Cause?
pathogenesis?
4 hemoglobin alpha genesdeleted - Lethal in utero
y chains form tetramers - Hb Barts
1125
Beta Thalassemia -
Gene details?
Chromosome?
Gene mutations not deletions on Ch 11
| Mutations -> absent or diminished B-globin
1126
Beta Thalassemia minor - B/B+ -
Details?
Blood smear?
Mildest form of disease
Usually asymptomatic with increased RBC count
Microcytic hypochromic RBCs and target cells on smear - center of RBC have red dot
Increased HbA
1127
```
Beta Thalassemia major- B/B+ -
Details?
Presentation?
Why is the anemia so severe?
Treatment?
```
Most severe form of disease
Severe anemia a few months after birth because HbF still around (No HbA)
alpha chains dimerise and aggregate and damage RBC -> ineffective erythropoiesis and extravascular hemolysis
Chronic transfusions (risk of secondary hemochromatosis)
1128
Massive erythroid hyperplasia -
Pathogenesis?
Presentation?
Massive EPO being released by kidney and goes to bone marrow
Expansion of hematopoeisis into marrow of skull and facial bones - crew cut appearance, thicken facial bones and chipmunk like face
Extramedullary hematopoiesis with HSM
Risk of aplastic crisis with parvo virus B19
1129
Most common cause of macrocytic anemia
Folate or Vit b12 deficiency (megaloblastic anemia with hypersegmented neutrophils)
1130
Other causes of macrocytic anemia
Alcoholism
Liver disease
Drugs (e.g. 5-FU)
(No hypersegmented neutrophils and no megaloblastic change)
1131
Folate -
| Where is it absorbed?
Jejunum
1132
Folate deficiency -
| Clinical and Lab findings
```
Macrocytic RBCs and hypersegmented neutrophils
Glossitis
Decreased serum folate
Increased serum homocysteine
Normal methylmalonic acid
```
1133
Most common cause of vit B12 deficiency?
Pathogenesis?
Clinical and lab findings?
Pernicious anemia
Autoimmune destruction of parietal cells (body of stomach leads to intrinsic factor deficiency
Macrocytic anemia with hypersegmented neutrophils
Glossitis
Subacute combined degeneration of spinal cord (methylmalonic acid builds up in the myelin)
Decreased vit b12, increased homocysteine (can't convert to methianine)
1134
Other causes of Vit B12 deficiency?
Pancreatic insufficiency
Damage to terminal ileum due to Crohns or Diphyllobothrium latum
Dietary deficiency is rare except in vegans
1135
Intravascular hemolysis -
Pathogenesis?
Clin and lab findings?
Destruction of RBC within vessels
Hemoglobinemia - hemoglobin will leak
Hemoglobinuria
Hemosiderinuria
Decreased serum haptoglobin
1136
```
Hereditary spherocytosis -
Inheritance?
Pathogenesis?
Lab and clinical findings?
Diagnosis test?
Treatment?
Complications?
```
Autosomal dominant - Northern European descent
Inherited defect of RBC cytoskeleton membrane tethering proteins - spectrin, ankyrin, band 3.1
Loss of pallor in the centre as it's lost its biconcave shape
Increased RDW and MCHC
Splenomegaly, jaundice with unconjugated bilirubin and increased risk of gallstones
Increased risk for aplastic crisis with parvovirus B19
Osmotic fragility test - increased fragility in hypotonic solution
Splenectomy - because the problem is that the spleen is eating the cells creating anemia(spherocytes are not the problem)
Howell-Jolly bodies emerge on blood smear
Pigmented gallstones
Aplastic crises from parvovirus B19 infection
1137
Sickle cell anemia -
| Mutat
AR mutation in B chain of hemoglobin
| Normal glutamic acid (hydrophilic) replaced with valine (hydrophobic)
1138
What is sickle cell disease?
| Treatment?
2 abnormal B genes that results in >90% HbS in RBCs
Hydroxyurea as it increases levels of HbF
1139
Irreversible sickling -
| Complications?
Vaso-occlusion -> infarction of tissues
Dactylitis - swollen hands and feet due to vaso-occlusive infarcts of bones (common in infants)
1140
Complications of auto-splenectomy
Autosplenectomy -> increased risk of infection with encapsulated organisms (strep pneumo, H influenza)
Increased risk of Salmonella osteomyelitis
Howell-Jolly bodies on blood smear
1141
How to identify trait vs disease
Metabisulfite screen - f there is any degree of HbS it will cause the cell to sickle so you can tell if someone has sickle cell trait.
1142
Sickle cell trait -
| Presentation?
Asymptomatic except in the renal medulla
The extreme hypoxia and hypertonicity causes sickling leading to microinfarctions and eventually microscopic hematuria and decreased ability to concentrate urine
1143
Hemoglobin C -
Mutation?
Presentation?
AR mutation in B chain of hemoglobin
Normal glutamic acid is replaced by lysine
Presents with mild anemia due to extravascular hemolysis and
Hemoglobin C crystals on blood smear
1144
G6PD -
Pathogenesis?
Inheritance?
Variant?
No NADH so ability to regenerate Gultathione by reducing it so then buildup of hydrogen peroxide
X linked recessive
African variant - mildly reduced half life
Mediterranean variant - markedly reduced half-life (fava beans)
1145
Treatment of extravascular anemia
Cessation of drug
Steroids
IVIG
Splenectomy
1146
IgM mediated autommune destruction of RBCs
| Pathogens?
Mycoplasma oneumonia and infectious mono
1147
Direct Coombs test
Are there RBCs bound to IgG
Anti-IgG added to RBCs and may cause agglutination
Used for Immune hemolytic anemia
1148
Indirect Coombs test
Does the patient have antibodies in serum
1149
Myelophthisic process
Pathologic process that replaces bone marrow
| Hematopoiesis is impaired resulting in pancytopenia
1150
Causes of lymphopenia
Immunodeficinecy
High cortisol state
Autoimmune destruction
Whole body radiation
1151
```
Infectious mononucleosis -
Pathogenesis?
Transmission?
Where does it infect?
Presentation?
Testing?
Complications?
```
EVC infection resulting in Lymphocytic leukocytosis comprised of CD8+ cells
Saliva
Oropharynx, liver, B cells
CD8+ T cell response -> generalised lymphadenopathy, splenomegaly, high whiite cell count
Monospot test - Positive 1 week after infection otherwise probs CMV (This is only a screening test)
Confirmatory test - EBV virus capsule antigen
Increased risk for spenic rupture
Rash
Dormany of virus in B cells
1152
Hallmark marker for lyphoblasts in ALL
tDt+ ***
1153
Hallmark marker for myeloblasts in AML
MPO
| Auer rods* - line in cytoplasm
1154
ALL -
What is it?
Which group?
Associated?
Neoplastic accumulation of lymphoblasts
Children
Downs syndrome - after age 5
1155
```
B-ALL -
How common?
Cytokines?
Chemo response?
Classic gene change?
Other gene change?
```
Most common type of ALL
CD10, CD19, CD20
Good response but requires prophylaxis to scrotum and CSF
t(12;21) - good prognosis
t(9;22) - poor prognosis and seen in adults
1156
T-ALL -
Cytokines?
Presentation?
Lymphoblasts that express CD2-CD8
DO NOT EXPRESS CD10
Thymic mass in teenager - Acute lympholastic lymphoma
1157
```
AML -
Characterised by t(15;17)?
Pathogenesis?
Treatment?
Prior exposure risk?
```
Acute promyelocytic leukemia
RAR receptor disrupted; promyelocytes accumulate
These contain numerous Auer rods that increases risk for DIC
ATRA - causes blasts to mature (derivative of Vit A)
Pre-existing dysplasia - alkylating agents or radiotherapy
1158
Acute monocytic leukemia -
Pathogenesis?
Presentation?
Proliferation of monoblasts; lack MPO
Infiltrate gums
1159
Acute megakaryoblastic leukemia -
Pathogenesis?
Presentations?
Proliferatin of megakaryoblasts; lack MPO
Associated with Down syndrome - before age 5
1160
```
CLL -
Pathogenesis?
Cytokines?
Blood smear?
Type of kymphadenopathy?
Complications?
```
Neopastic proliferation of naive B cells
CD5 and CD20
Increased lymphocyes and smudge cells (splattered cells) seen on blood smear
generalised lymphadenopathy - small lymphocytic lymphoma
Hypogammaglobinemia
Autoimmune hemolytic anemia
Transformation to diffuse large B-cell lymphoma
1161
```
Hairy Cell Leukemia -
Pathogenesis?
Characterised by?
Testing?
Presentation?
Treatment?
```
Neoplastic proliferation of mature B cells
Hairy cytoplasmic processes
Cells are positive for TRAP
Splenomegaly (red pulp*)
Dry tap with bone marrow aspiration
NO lymphadenopathy
Good response to 2-CDA - adenosine deaminase inhibitor
1162
ATLL -
Pathogenesis?
Associated with?
Clinical features?
Neoplastic proliferation of mature CD4+ cells
Associated with HTLV-1 (Japan and carribean)
Rash
Generalised LAD with hepatosplenomegaly
Lytic bone lesions with hyper calcemia
1163
Mycosis fungoides -
Pathogenesis?
Presentation?
Neoplastic proliferation of mature CD4+ T cells
Infiltrate the skin and produce rash, plaques or nodules
Aggregates in epidermis -> Pautrier microabscesses
Sezary syndrome (spread to blood) - Cerebreoform nuclei
1164
Myeloproliferative disorders -
| Complications?
Hyperuricemia and gout
Progression to marrow fibrosis
Transformation to acute leukemia
1165
```
Chronic Myeloid Leukemia -
What is it?
Pathogenesis?
Treatment?
Transformation?
```
Neoplastic proliferation of mature myeloid cells, especially granulocytes
Basophils are characteristically increased
t(9;22) translocation
BCR-ABL fusion with increased tyrosine kinase activity
Imatinib which blocks tyrosine kinase
AML (2/3) or ALL (1/3)
1166
Distinguishing CML froma leukemoid reacion
CML granulocytes ae LAP negative
CML associated with increased basophils
CML granulocytes exhibit t(9;22)
1167
```
Polycythemia vera -
What is it?
Associated with?
Clinical features?
Treatment?
```
Neoplastic proliferation of mature myeloid cells especially RBCs
Granulocytes and platelets are also increased
Associated with JAK2 kinase mutation
Blurry vision and headache
Increased risk of venous thrombosis (Budd-Chiari)
Flushed face due to congestion
Itching after bathing
Phlebotomy
Hydroxyurea
1168
Polycythemia vera VS reactive polycythemia
In PV, SaO2 is normal and EPO is decreased
In reactive polycythemia due to lung disease, SAO2 is low and EPO is increased
Also in reactive due to ectopic EPO production (RCC), EPO is high and SaO2 is normal
1169
```
Essentia thrombocythemia -
What is it?
Associated with?
Similar blood smear?
Symptoms?
```
Neoplastic proliferation of mature myeloid cells especially platelets
RBCs and granulocytes are also increased
JAK 2 kinase mutation
Iron deficiency anemia
Increased risk of bleeding or thrombosis
Rare to -> marrow fibrosis or acute leukemia
No risk for hyperuricemia or gout
1170
```
Myelofibrosis -
What is it?
Associated with?
Classic finding?
Clinical features?
Blood smear?
```
Neoplastic proliferation of mature myeloid cells, especially megakaryocytes
Associated with JAK2 kinase mutation
Excess PDGF results in marrow fibrosis
Splenomegaly due to extramedullary hematopoiesis
Leukoerythroblastic smear
Increased risk of infection, thrombosis and bleeding
Teardrop cells
1171
Lymphadenopathy -
Follicular hyperplasia?
Paracortex hyperplasia?
Sinus histiocytes?
Rheumatoid arthritis and early HIV
Viral infection
LN draining tissue with cancer
1172
```
Follicular lymhoma -
What is it?
Clinically present?
Translocation and pathogenesis?
Treatment?
Complication?
```
Neoplastic small B cells (CD20+) that make follicle like nodules
Late adulthood with painless LAD
t(14;18) - Bcl2 becomes overexpressed
Bcl2 stabilises mitochondrial membrane preventing cytochrome c to leak out of mitochondria - inhibits apoptosis
Only for symptomatic patients
Low dose CTX or rituximab
Progress to diffuse large B-cell lymphoma
1173
Distinguish follicular hyperplasia vs follicular lymphoma
Disruption of normal LN architecture - lymphoma
Lack of tingible body macrophages in GC (apoptosis isn't occurring)
Expression of Bcl2 in follicles
Monoclonality
1174
Mantle cell lymphoma -
What is it?
When does it present?
Translocation and pathogenesis?
Neoplastic B cells (CD20+) that expand the mantle zone
Late adulthood wth painless LAD
t(11;14) - Cyclin D1
Overexpression of cyclin D1 promotes G1/S transition in cell cycle
1175
Marginal Zone lymphoma -
What is it?
Associated with?
Neoplastic small B cells that expand marginal zone
Associated with chronic inflammatory states - Hashimoto's thyroiditis
Sjogrens syndrome
H pylori gastritis (marginal zone lymphoma in mucosal sites also called MALToma
(Formed by post-germinal center B cells)
1176
Burkitt lymphoma -
What is it?
Associated with?
Presents as?
Neoplastic intermediate-sized B cells
Associated with EBV
Extranodal mass in child of oung adult
African form - jaw
Sporadic form - abdomen
1177
Burkitt lymphoma -
| Translocations and pathogenesis?
t(8;14)
Results in translocation of c-myc to Ig heavy chain locus on ch14
Overexpression of c-myc oncogene that promotes cell growth
Blue sky
1178
```
Diffuse large B cell lymphoma -
What is it?
Prognosis?
Presents?
Arises?
```
Most common form of non-hodkin's lymphoma
Very aggressive
Presents in late adulthood as an enlarging LN or extranodal mass
Arise sporadically or transformation from follicular lymphoma
1179
Hodgkin's lymphoma -
Characteristic cell?
Presentation?
Subtypes?
Reed-Sternberg cells (owl eyes) release cytokines that bring in other inflammatory cells
CD15 and CD30
Some have fever, chills and night sweats
Nodular sclerosis
Lymphocyte-rich (best prognosis)
Mixed cellularity (IL-5)
Lymphocyte depleted (Worst prognosis - elderly and HIV+)
1180
Nodular sclerosis HL -
Presentation?
Biopsy?
Enlarging neck lymph node or mediastinal lymph node in a young adult usually female
Lymph node divided by broad bands of fibrosis
Reed-sternberg cells sit in big open spaces (lacunar cellsi
1181
```
Multiple myeloma -
Important cytokines?
Pathogenesis and presentation?
SPEP indication?
Blood smear?
```
Serum IL-6 is elevated and important growth factor
Plasma cells activate RANK receptor on osteoclasts
Lytic 'punched out' lesions seen on xray especially in vertebrae and skull
Increased risk of fracture
Sharp spike in gamma region - M spike (indicated monoclonal immunoglobulin) usually IgG or IgA
Lacks antigenic diversity and thus infection is most common cause of death
Rouleaux formation on blood smear - poker chip
Primary AL amyloidosis due to free light chain circulating in serum and deposits in tissues
1182
Multiple myeloma -
| Excretion of free light chain
Free light chain excreted in urine as Bence Jones proteins
| Deposition in kidney tubules leads to risk for renal failure (myeloma kidney)
1183
Monoclonal gammopathy of undetermined significant -
What is it?
Who is it seen in?
Increased serum protein with M spike in SPEP
Other features of MM are absent
Common in elderly (5%)
1% develop MM
1184
Waldenstrom Macroglobulinemia -
What is it?
Clinical features?
treatment?
B cell lymphoma with monoclonal IgM production
Generalised LAD; lytic bone lesions absent
Increased serum protein with M spike due to IgM
Visual and neurologic deficits (retinal hemorrhage or stroke)
Bleedings
Acute - plasmapheresis
1185
Langerhans cells
Specialised dendritic cell found in the skin
Derived from mone marrow monocytes
Present antigen to naive T cells
1186
Langerhans cells histiocytosis -
EM?
Immunohistochemistry?
Birbeck (tennis racket) granules on EM
| Cells are CD1a+ and S100+ by immunohistochemistry
1187
Lettere-Siwe disease -
Malignant?
Presentation?
Malignant proliferation
Presents is skin rash and cystic skeletal defects in an infant <2 yrs
Multiple organs involved
Rapidly fatal
1188
Eosinophilic granuloma -
What is it?
Classic presentation?
Biopsy?
Benign proliferation
Pathologic fracture in an adolescent (skin not involved)
Langerhans cells with mixed inflammatory cells (including eosinophils)
1189
Hand-Schuller-Christian disease -
What is it?
Classic presentation?
Malignant proliferation of Langerhans cells
Scalp rash, lytic skull defects, diabetes insipidus and exopthalmos in a child (>age 3)
1190
Buerger's disease -
What is it?
Presentation?
Association?
Necrotizing vasculitis involving the digits
Ulceration, gangrene and autoamputation of fingers and toes
Raynaud phenomenon is present
High associated with smoking*
1191
```
Wegner Granulomatosis -
What is it?
Presentation?
Testing?
Treatment?
```
Necrotizing granulomatous vasculitis involving the nasopharynx, lungs and kidneys
Middle aged males - sinusitis or nasopharyngeal ulceration
Hemoptysis with bilateral nodular lung infiltrates
Hematuria due to RPGN
Serum c-ANCA levels correlate with disease activity
Cyclophosphamide and corticosteroids
1192
```
Microscopic polyangiitis -
What is it?
Presentation?
Testing?
Treatment?
```
Necrotizing vasculitis involving mutple organs, especially lung and kidney
Similar to WG but nasopharyngeal involvement and granulomas are absent
Serum p-ANCA correlate with level of disease activity
Cyclophosphamide and corticosteroids
1193
Churg-Strauss Syndrome -
What is it?
Presentation?
Testing?
Necrotizing granulomatous vasculitis with eosinophils
Eosinophilic granulomatosis with polyangiitis
Involves multiple organs inclusing lungs and heart
Asthma and peripheral eosinophilia
p-ANCA correlates
Antibodies against neutrophil myeloperoxidase are common
1194
Monkeberg Medial Calcific Sclerosis -
| What is it?
Calcification of the media; non obstructive
| Incidental finding
1195
Hemanigioma -
What is it?
Presentation?
Where?
Benign tumour comprised of blood vessels (blanching)
Present at birth and usually regressses during childhood
Often involves skin and liver
1196
Angiosarcoma -
What is it?
Where?
Association?
Malignant proliferation of endothelial cells
Highly aggressive
Skin, breast and liver
Liver angiosarcoma is associated with exposure to PVC, arsenic and Thorotrast
1197
```
Kaposi Sarcoma -
What is it?
Associated with?
Presentation?
Who gets it?
```
Low grade malignant proliferation of endothelial cells
Associated with HHV-8
Purple patches, plaques or nodules on skin (not blanching)
Older Eastern European males - needs to be surgically removed
AIDS - give retroviral agents
Transplant recipients - Decreased immunosuppression
1198
Truncating mutations affecting TTN gene?
What does the gene do?
Inheritance?
Familial Dilated Cardiomyopathy
Encodes sarcomere protein titin
(Titin is an elastic protein that anchors beta-myosin heavy chain to the Z-discs)
Autosomal dominant inheritance
1199
Common in Central and South America, sub-saharan Africa, and Asia
Prolonged incubation (months to years)
Seizures, focal neurologic symptoms, intracranial hypertension (CSF obstruction)
CT/MRI show cysts, scolex and tests indicate eosinophilia, increased ESR
Diagnosis?
Microbiology?
Management?
Neurocysticercosis
Ingestion of taenia solium (pork tapeworm) eggs excreted in feces of human carriers
Antiparasitic therapy (albendazole)
1200
Effects of E6 and E7
Inhibition of cell cycle regulation and evasion of apoptosis (increasing malignant potential)
1201
Adverse effects of succinylcholine
Malignant hyperthemia in genetically susceptible patients (halothane)
Severe hyperkalemia in patients with burns, myopathies, crush injuries and denervation
Bradycardia from parasympathetic stimulation or tachycardia from sympathetic effects
1202
Nephritic syndrome characterization?
Glomerular inflammation resulting in hematuria and red blood cell casts.
1203
COPD exacerbation -
Viral triggers?
Bacterial triggers?
Rhinovirus, influenza, parainfluenza
Haemophilus influenzae, Moraxella catarrhalis, Streptococcus pneumo
1204
Alport syndrome -
Associated symptoms?
Cause of injury?
Electron microscopy?
Hearing loss and ocular abnormalities
Defective type IV collagen in GBM
Lamellated appearance of GBM
1205
```
A perviously healthy 23 year old man comes to the office due to abrupt-onset high fever, chills, headache, and weakness that developed during a hiking and camping trip in New Mexico. His initial symptoms was quickly followed by intensely painful swellings in the groin. Physical exam shows tender and enlarged inguinal lymph nodes with overlying erythematous skin. Gram-negative coccobacilli which resembles a closed safety pin on special staining.
Diagnosis?
Source of infection?
Pathogen?
Treatment?
```
Bubonic plague - zoonotic infection endemic to the Southwestern US.
Rodent flea bite
Yersinia pestis
Aminoglycoside
1206
Pathogen in lyme disease?
Transmission?
Treatment?
Borrelia burgdorferi
Ixodus tick
Doxycycline and/or ceftriaxone
1207
Small intestinal bacterial overgrowth -
Increased serum substances?
Symptoms?
Vitamin K and Folate
Nausea, bloating, abdo discomfort and malabsorption
1208
Purulent or mucopurulent discharge
Friable cervix with easy bleeding (eg. intermenstrual or postcoital bleeding)
Microscopy of the discharge demonstrates abundant neutrophils and nucleic acid amplification testing is positive.
Diagnosis?
Complication?
Empiric treatment?
Gonococcal cervicitis
Infertility
Azithromycin and ceftriaxone
1209
HIV associated dementia histopathologic findings?
Microglial nodules and multinucleated giant cells
1210
Dermatophyte infections?
Pathophysiology?
Labs?
Tinea corporis, tinea pedis and tinea cruris
Infect keratinized matter in the stratum corneum of tthe superficial epidermis but do not invade the dermis and subcutaneous tissue.
Potassium hydrooxide preparation of skin scrapings.
1211
Psychostimulants - Methylphenidate and amphetamines
| Common side effects?
Decreased appetite, weight loss and insomnia
1212
Reye syndrome -
| Electron microscopy
Microvesicular steatosis with decreased mitochondria and glycogen depletion
1213
Gerstmann syndrome -
Area affected?
Signs?
Angular gyrus of dominant parietal room
Agraphia (inability to write)
Acalculia (can't carry out math equations)
Finger agnosia
Left-right disorientation
1214
Function of Il-8?
Trigger neutrophils to enter site of infection (chmotaxis)
| Induces phagocytosis in neutrophils once they have arrived
1215
Acute interstitial nephritis -
Causes?
Clinical features?
Lab findings?
```
Antibiotics (beta-lactam, sulfonamide, rifampin)
PPI
NSAIDs
Diuretics
(Mycoplasma, Legionella)
```
Rash, fever or asymp
New drug exposure
AKI
Pyuria, haematuria, WBC casts
Eosinophilia, urinary eosinophils
Renal biopsy: inflammatory interstitial infiltrate and edema
1216
32 year old hospitalised man is evaluated for new-onset SOB and confusion. Was in 3 days ago for RTA where he had bilateral femur fracture, a pelvic fracture and urethral injury. Increased temp, pulse and RR. Sats are 84%. Lungs are clear and no lower extremity edema. Petchial rash on chest. ECG shows tachy with no ischemic changes.
Diagnosis?
Histology?
Acute onset neuro, hypoxemia and petechia in patient with traumatic bone fracture -> Fat embolism syndrome
1217
32 year old man comes in due to weakness and tingling that started in his feet and is now at his knees. He felt weak while climbing stairs. Weakness has progressed for the last week. Today he fell twice while attempting to walk. He had a mild resp infection 2 weeks ago. No social hx and no medications. Physical exam shows marked weakness in the distal muscles and moderate weakness in the proximal muscles in both legs. Deep tendon reflexes are absent at the knees.
Diagnosis?
What is it?
Histology?
Guillain-Barre syndrome
Acute, immune-mediated demyelinating polyneuropathy due to molecular mimicry
Inflammatory infiltrate located within the endoneurium
1218
45 year old woman suffers from an inability to walk.
| What does Vit B12 deficiency show in spinal cord?
Spinal cord shows symmteric myelin layer vacuolization and axonal degeneration involving the posterior columns and the lateral corticospina tracts.
(Subacute combined degeneration)
1219
Normal presure hydrocephalus -
Cause?
Triad?
Decreased CSF resorption
Progressive gait difficulties, cognitive disturbances ad urinary incontinence
1220
```
Leptospirosis -
What is it?
Transmission?
Diagnostic clue?
Culture?
```
Thin, highly coiled motile spirochete
Water contaminated with animal urine
Conjunctival suffusion
Cork-screw shaped organism
1221
Bacteria that can survive boiling?
Bacillus and Clostridium (spore forming)
1222
What turns intensly pink on periodic acid-Schiff test (PAS) reaction?
Glycoprotein
1223
AFP as tumour marker
Hepatocellular carcinoma
| Germ cell
1224
CA 19-9 marker?
Pancreatic cancer
1225
What nerves travel in foramen rotundum?
CN V2
1226
What nerves travel in foramen ovale?
CN V3
1227
What travels in foramen spinosum?
Middle meningeal artery and vein
1228
What travels in jugular foramen?
CN IX, X, XI, jugular vein
1229
```
36 year old immigrant from Peru comes to the office due to swallowing liquids and difficulty belching. Eating slowly and extending his neck partially relieves his symptoms. He has been an active smoker for the last 18 years. BMI is 24 kg/m2. On examination, the abdomen is soft, nondistended and nontender with no masses or organomegaly. Barium swallow shows dilated esophagus and manometry confirms absent peristalsis in the smooth muscle portion of the esophagus.
Diagnosis?
Pathogen?
Cardiac manifestations?
GI manifestations?
```
Chagas disease
Protozoan Trypanosoma cruzi
Vector - triatomine bug
Endemic in Central and South America
Dilated cardiomyopathy with biventricular failure
Apical wall thinning with aneurysm +/- mural thrombus
Ventricular arrhythmias
Megaesophagus (secondary achalasia)
Megacolon
1230
Cilostazol -
Pathogenesis?
Used for?
Reduces platelet activation by inhibitig platelet phosphodieserase
Direct arterial vasodilator
Decrease in claudication
Used in patients with peripheral artery disease
1231
Where is the damage with nonreactive pupils to light stimulation following cardiac arrest? MRI indicates loss of grey-white matter differentiation with sulcal effacement
Upper midbrain
1232
Sirolimus -
Mechanism of action?
Used for?
Proliferation signal inhibitor that targets mTOR (mammalian target of rapamycin) signalling pathway. Binds FK-506 binding protein to do that
Interruption of IL-2 signal transduction (Prevent G1->S phase progression)
Focal segmental glomerulosclerosis
1233
35 year old man comes in with 3 months of progressive swelling under his left jaw. Swelling spontaneously opened and drained a month ago but has not improved. Tooth extracted prior. Examination shows indurated, nontender mass in the left submandibular area with a small opening on the overlying skin. Gentle pressure reveals thick pus with sand/grain-like particles.
Diagnosis?
Organism?
Pathophys?
Cervicofacial Actinomyces
Gram positive bacilli, branching and fiamentous growth
Inoculated in submucosa -> low O2 tension -> Growth withour regard
1234
FIltration fraction formula
FF = GFR / RPF
1235
75 year old man brought oto ED due to problems of vision and right-sided hemisensory loss that started one hour ago. While in the ED his symptoms worsen and he develops a headache. Head CT reveals multiple, small lobal haemorrhages of varying ages in the occipital and parietal area with a medium-szed acute bleed in the left pariietooccipital lobe. two years ago, patient had developed sudden right arm weakness and neuroimaging had showed a small left frotal lobe haemmorhage.
Diagnosis?
Pathogenesis?
Cerebral amyloid angiopathy
B amyloid deposition in the walls of small to medium sized cerebral arteries
1236
Diphenoxylate -
Whhat is it?
What does it do?
Opioid anti-diarrheal
Binds to mu opiate receptors in the GI tract andslows motility
1237
Cells in the brain most susceptible to ischemia
Hippocampus (pyramidal cells)
1238
42 year old male treated for impaired vision develops rapidly progressive dementia and myoclonic jerks. apses into coma and dies 6 months later. Brain tissue shows gray matter changes with many uniform vacuoles between neuron cell bodies and in perikaryon of neurons. (spongiform encephalopathy)
Diagnosis?
Creutzfeldt-Jakob disease
1239
Terbinafine -
Mechanism?
Used for?
Inhibits synthesis of ergosterol by inhibiting the enzyme squalene epoxidase
Dermatophytosis
1240
First line treatment for essential tumor
Propanolol
1241
Function of ventromedial hypothalamic nuclei
Mediates satiety; destruction leads to hyperphagia
1242
Function of lateral hypothalamic nuclei
Mediates; hunger destruction leads to anorexia
1243
Function of anterior hypothalamic nuclei
Mediates heat dissipation; destruction leads to hyperthermia
1244
Function of posterior hypothalamic nuclei
Mediates heat conservation; destruction leads to hypothermia
1245
Function of arcuate hypothalamic nuclei
Secretion of dopamine (inhibits prolactin), growth hormone releasing hormone and gonadotropin releasing hormone
(Leptin acts here to inhibit neuropeptide Y and stimulates production of alpha-MSH)
1246
Function of paraventricular hypothalamic nuclei
ADH, CRH, oxytocin and thyrotropin releasing hormone secretion
1247
Function of supraoptic hypothalamic nuclei
Secretion of ADH hormone and oxytocin
1248
Function of suprachiasmatic hypothalamic nsuclei
Circadian rhythm regulation and pineal gland function
1249
What is synaptophysin?
Transmembrane protein found in presynaptic vesicles of neurons, neuroectodermal and neuroendocrine cells.
1250
What are lichtenburg figures pathognomonic of?
Lightening
1251
Formula for renal plasma flow?
RPF = Renal blood flow * (1-Hematocrit)
1252
Sleep-walking, nightmares -
STage of sleep?
EEG pattern?
Non-REM stage 3
Deltawaves (<4Hz)
1253
Risendronate, alendronate -
What is it?
Mechanism of action?
Biphosphanates
Attach to hydroxyapatite binding sites on bone surfaces
Inhibit osteoclast-mediated bone resorption
1254
```
Difference between of HIV-1 and HIV-2 -
Geographic location?
Viral load?
Progression to AIDS?
Intrinsic resistance?
```
Worldwide; West Africa
High; Low
7-10 yrs; 10-25 years
Limited; NNRTIs, fusion inhibitors
1255
Dihydroergotamine -
What is it?
Mechanism?
Ergot alkaloid (used for acute migraine headache)
Constricts vascular smooth muscle via stimulation of alpha-adrenergic and serotonergic receptors.
1256
Acute epididymitis -
Epidemiology?
Symptoms?
Testing?
Age <35: sexually transmitted
Age >35: bladder outlet obstruction
Unilateral testicular pain
Epididymal edema
Dysuria, frequence
NAAT for chlamydia and gonorrhea
Urinalysis
1257
24 year old comes in with leg swelling after his fully vaccinated dog bit him last night. The patient irrigated the wound with water and soap and had acetaminophen. This morning the wound was warm, red and swollen. The distal puses are palpable. Wound cultures grow gram-negative coccobacilli; culture has mouse-like odor.
Pathogen?
Other animals?
Treatment??
Pasteurella multocida
Cats
Amoxicillin-clavulanate
1258
```
24 year old man is hospitalised after a 3 days of fever, chills, m yalgias and a severe headache. The symptoms started on his last day camping on the Appalachian Mountains and they have rapidly progressed. He appears lethargic and confused. There is prominent erythematous maculopapular rash on the distal forearms.
Diagnosis?
Pathogen?
Gram stain?
Transmission?
Treatment?
```
Rocky Mountain Spotted Fever
Rickettsia rickettsii - weakly gram-negative obligate itracellular bacterium
Tick bite
Doxycycline - inhibits protein (30S ribosomal subunit)
1259
Small cell carcinoma of the lung -
Clinical features?
Histology?
Associated paraneoplastic syndromes?
Risks - smoking, male
Sheets of small blue cells with scant cytoplasm
NCAM, neuron-specific elastase, chromogranin, synaptophysin
SIADH, Cushing, Lambert-Eaton
1260
48 year old woman comes into the office due to difficulty swallowing dry food such as crackers. No pain while swallowing. She has to drink water frequently during lectures to keep her mouth moist, She reports a gritty sensation in her eyes which is worse in the evenings. She has hypothyroid and she takes levothyroxine. Physical exam shows mild conjunctival erythema and cracking of lips. There is diffuse, nontender thyroid enlargement.
Diagnosis?
Serologic markers?
Biopsy of salivary gllands?
Sjogren's syndrome
anti-Ro, anti-La
Periductal lymphocytic infiltrates
1261
Globus sensation
Sensation of foreign body, tightness or fullness in the throat - functional disorder
1262
Osteomalacia -
Pathophysiology?
Symptoms?
Causes?
Decreased mineralisation of osteoid
Bone pain and tenderness
Muscle weakness and impaired gait
Fractures
Vit D deficiency
Malabsorption
CKD
Renal tubular acidosis
1263
Prader-Willi syndrome -
Etiology?
Clinical features?
Loss of paternally inherited allele from chromosome 15
Paternal microdeletion
```
Neonatal hypotonia
Hyperphagia/obesity
Short stature
Small hands and feet
Hypogonadism
Dysmorphic facies
Intellectual disability
```
1264
Angelman syndrome -
Etiology?
Clinical features?
Loss of maternally inherited allele from chromosome 15
Maternal microdeletion
Epilepsy/seizures
Ataxic gait/tremors
Inapproproate laughter and smiling
