Woo Flashcards
What do osteocytes do? How are they connected to each other?
Osteocytes maintain the structure of the mineralised matrix and control short term release and deposition of Ca2+.
They are connected by gap junctions.
5 embryological derivatives of neural crest?
Adrenal medulla, Schwann cells, pia mater, aorticopulmonary septum, bronchial arches, skull bases, melanocytes
5 embryological derivatives of mesoderm?
Muscles, Connective tissue, cartilage, spleen, kidneys, adrenal cortex
Patient with severe HTN, headaches and an adrenal mass. What is it? What is it derived from? Pre-treatment? With family history?
Typical pheochromocytoma
Derived from chromaffin cells on adrenal medulla
Phenoxybenzamine
Multiple Endocrine Neoplasia type 2
Multiple Endocrine Neoplasia type 2 associated mutations?
RET proto-oncogene germ-line mutations:
Pheochromocytomas
Medullary thyroid cancer (malignant C cells)
Parathyroid hyperplasia (2A)/Mucosal neuromas (2B)
What is IL-4 responsible for?
B cell growth and isotype switching
Stimulates secretion of IgE and predisposes to type I sensitivity.
What produces IL-1? What is the function of IL-1?
Produced by macrophages
It activates naive TH0 lymphocytes and promotes their differentiation into TH1 and TH2
What is the function of IL-2?
Stimulates development of CD4+ T helper cells, CD8+ cytotoxic cells and B cells
Reduces tumour burden due to enhanced activity of NK cells
What produces IL-3? What is the function of IL-3?
Produced by T-helper cells
Stimulates growth and differentiation of bone marrow stem cells
What does activated Calcineurin do?
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.
What drugs inhibit calcineurin activation?
Cyclosporine and tacrolimus
What is neurofibromin? Chromosome? How does it protect against cancer?
Neurofibromin is a TSG protein encoded by NF-1 gene on chromosome 17.
Neurofibromin is a key suppressor of Ras.
What are gram-positive rods with tumbling motility at room temperature on CSF microscopy?
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.
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?
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.
Thiazide diuretics - mechanism of action?
side effects?
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
Klinefelter syndrome? Major features?
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)
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?
DiGeorge Syndrome
DiGeorge Syndrome -
chromosome?
pathophysiology?
Signs?
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
The most common cause of osteomyelitis in sickle cell children?
Salmonella then staph aureus and E.coli
L.M.W. Heparin - mechanism of action?
Bind to antithrombin III causing a conformational change inhibiting factor Xa and promoting anticoagulation
(enoxaparin)
Polyuria that resolves with the administration of desmopressin
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.
How long after a vasectomy do patients have viable sperm?
Distal vas for 3 months and/or at least 20 ejaculations following
Sexual intercourse can be resumed within a week
Loop diuretics - mechanism of action?
Electrolyte abnormalities?
Inhibits Na-K-2Cl
Decreased potassium, alkalosis, decreased calcium
Thiazide diuretics - mechanism of action?
Electrolyte abnormalities?
Inhibits Na-Cl
Decreased sodium, decreased potassium, increased calcium
Sodium channel blockers (mineralocorticoids) - mechanism of action?
Electrolyte abnormalities?
Inhibits ENac
Increased potassium, acidosis
Beck’s Triad
Jugular venous distension
Hypotension
Diminished heart sounds
Causes of cardiac tamponade
Malignancy/radiation therapy
Infection (e.g. viral, TB, HIV)
Drugs - hydralazine, isoniazid
Connective tissue disease (SLE, RA)
Diagnosis of Pulsus paradoxus
ECG - low voltage QRS complexes
CXR - Enlarged water bottle shaped heart, clear lungs
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.
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
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
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
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
Hyperkeratotic, hyperpigmented plaques with classic “velvety” texture - condition? cause?
Acanthesis nigricans
Commonly due to insulin resistance
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)
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
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
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
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.
Hemophilia A, an X-linked recessive disorder
Due to a deficiency in coagulation factor VIII
Patient comes in with easy bruising and excessive bleeding
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.
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
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
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
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
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
Diagnosis of Wilson’s disease?
Decreased ceruloplasmin and increased urinary copper excretion
Kayser-Fleischer rings
Increased copper content on liver biopsy
Atrophy basal ganglia
Treatment of Wilson’s disease?
Chelators (D-penicillamine, trientine)
Zinc (interferes with copper absorption)
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
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
Mechanism of ether?
Ether can inactivate “enveloped” viruses
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
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
Non lactose-fermenting, oxidase negative, motile gram-negative organism with capsule. Condition?
Salmonella
Vi antigen that protects it from opsonization and phagocytosis
Antibiotics effective against pseudomonas aeruginosa
Piperacillin, ceftazidime, cefepime, gentamicin, ciprofloxacin, aztreonam, imipenem
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
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
Name 3 segmented viruses that can undergo reassortment
Rotavirus
Influenza A
Orthomyxovirus
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
How to calculate absolute risk reductions?
ARR = Event rate (control) - Event rate (treatment)
What does bicuspid valve increase the risk of in the future?
Aortic stenosis in his 50s
Cause of epidural haemorrhage? Presentation? CT scan?
Rupture of middle meningeal artery
Lucid interval followed by LOC
Biconvex hematoma
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
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
5 common CGD infection organisms?
Catalase positive bacteria and fungi: Staphyloccocus aureus Pseudomonas cepacia* Serratia marcescens Nocardia Aspergillus
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
In atrial fibrillation, what is the most likely source of a thrombus in a thromboembolic event?
Left atrial appendage
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
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
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)
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
Hydrochlorothiazide - when is it used? side effects?
Used for treating HTN
Hypokalaemia, hyponatremia, hypomagnesemia and hypercalcemia
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)
Carvedilol - What is it? Side effects?
B blocker with alpha blocking activity.
Side effects include bradycardia, hypoglycaemia and fatigue.
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
Blood gas for DKA
Decrease in HCO3 to neutralise
ph - acidotic
CO2 - low (hyperventilation/Kussmaul breathing)
HCO3 - low
Blood gas for diuretic overuse
Loss of hydrogen leads to alkalosis
ph - alkalosis
CO2 - high
HCO3 - high
Blood gas for heroin overdose
Hypoventilation leads to increase CO2
decrease ph
normal to mildly high HCO3
Blood gas for panic attack
Hyperventilation leads to respiratory alkalosis
ph - alkalosis
CO2 - low
HCO3 - slightly low
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
Latissimus dorsi -
Innervations?
Primary functions?
Thoracodorsal nerves
Extension, adduction and internal rotation of humerus
Deltoid -
Innervation?
Primary functions?
Axillary nerve
Abduction of the arm (it can be injured during sudden or forceful loading of the arms)
Infraspinatus -
Innervation?
Primary function?
Suprascapular nerve
External rotation of the arm
Trapezius -
Innervation?
Primary function?
Accessory nerve
Elevate, rotate and stabilise the scapula (injured in whiplash)
Triceps -
Innervation?
Primary function?
Radial nerve
Extension of the elbow
Thiazolidinediones -
mechanism of action?
effect?
Activate peroxisome-proliferator activated receptor-y (alters transcription of genes)
Decreased insulin resistance
What is responsible for the green color of pus and sputum in bacterial infections?
Neutrophil myeloperoxidase
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
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
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)
Certolizumab -
Type of drug?
Used for?
Pegylated humanised monoclonal antibody that targets TNF-a
It lacks Fc region
Used to treat autoimmune diseases
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
Malabsorption by coeliac disease - Vit D deficiency
Levels of serum calcium, serum phosphrus and serum PTH
Calcium - low
Phosphorus - low
PTH - high
Primary hyperPTH levels of:
serum calcium, serum phosphorus and serum PTH
Calcium - high
Phosphorus - low
PTH - high
HypoPTH levels of:
serum calcium, serum phosphorus and serum PTH
Calcium - low
Phosphorus - high
PTH - low
CKD levels of:
serum calcium, serum phosphorus and serum PTH
Calcium - low/normal
Phosphorus - high
PTH - high
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
Candida -
Morphology?
Clinical syndromes?
Pseudohyphae with blastoconidia
Wide range of infections
Blastomyces -
Morphology?
Clinical syndrome?
Yeast with distinctive broad-based budding
Inhaled, can disseminate to skin and bone
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))
Cryptococcus -
Morphology?
Mucicarmine stain?
Clinical syndrome?
Capsule (India ink stain)
Appears red
Meningitis among immunocompromised patients (advanced AIDS)
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
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
Where is the most highly oxygenated blood in the fetus?
Umbilical vein that empties directly into the inferior vena cava via ductus venosus
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
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
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)
Seronegative spondyloarthropathies?
Risk factors?
Ankylosing spondylitis
Reactive arthritis
Psoriatic arthritis
Arthritis associated with IBD
Higher incidence of the human leukocyte antigen B27
Formula for volume of distribution
Vd (L) = amount of drug given (mg)/ plasma conc of drug
Obstructive lung disease:
FEV1
FEV1/FVC
FVC
Decreased
Decreased
Normal to decreased
Restrictive lung disease (including obesity):
FEV1
FEV1/FVC
FVC
Decreased
Normal to increased
Decreased
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.
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
What chromosomal change are cri-du-chat syndrome (5p), DiGeorge syndrome (22q11) and Prader-Willi syndrome (15q) associated with?
Chromosomal deletions
What chromosomal change occurs to cause conditions such as Prader-Willi and Angelman syndrome?
Imprinting
What chromosomal change occurs to cause disorders such as Huntington’s, myotonic dystrophy and fragile X syndrome?
Trinucleotide repeat expansions
Anticipation
What can cause Wernicke encephalopathy is administered to thiamine-deficient patients?
Glucose (due to increased thiamine demand)
What enzymes in the citric acid cycle require thiamine as a cofactor?
Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase
Within the first week of primary TB infection what infectious process occurs?
Intracellular bacterial proliferation
What is a facultative intracellular acid-fast bacillus that is transmitted via aerosolized droplet nuclei?
Mycobacterium TB
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
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
What does western blotting identify?
Proteins
What does northern blotting identify?
Specific RNA sequences
What does southern blotting identify?
DNA sequences in unknown samples
What does southwestern blotting analyse?
DNA-binding proteins (bind specific olignucleotide probes)
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)
What forms the blood brain barrier?
Tight junctions between nonfenestrated capillary endothelial cells.
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.
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
Somatostatin -
Where is produced?
Function?
Produced in the stomach, small bowel and pancreas
Inhibits the production and release of other GI hormones ie insulin.
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)
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
Glucagon like peptide 1 -
Where and why is produced?
Produced by the gut mucosa that stimulates insulin secretion in response to sugar containing meals
Where does majority of water reabsorption occur in the nephron?
Proximal tubule
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
Number needed to treat definition
NNT=1/absolute risk increase
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
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
Familial chylomicronemia syndrome Type I -
Protein defect?
Elevated lipoproteins?
Manifestations?
Lipoprotein lipase + ApoC-II
Chylomicrons
Acute pancreatitis
Lipemia retinalis
Eruptive skin xanthomas
Hepatosplenomegaly
Familial hypercholesterolemia Type IIA -
Protein defect?
Elevated lipoproteins?
Manifestations?
LDL receptor + ApoB-100
LDL
Premature coronary artery disease
Corneal arcus
Tendon xanthomas
Xanthelasmas
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
Familial hypertriglyceridemia Type IV -
Protein defect?
Elevated lipoproteins?
Manifestations?
ApoA-V
VLDL
Increased pancreatitis risk
Associated with obesity & insulin resistance
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
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
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
Popliteal fossa injury -
Nerve damage?
Effect?
Tibial nerve
Weakness on foot plantarflexion
Foot inversion
Toe flexion
Causes of acquired QT prolongation
Electrolyte imbalances:
Hypokalemia
Hypomagnesemia
Medications:
Class IA and III antiarrhythmics (quinidine, sotalol)
Antibiotics (macrolides, fluoroquinolones)
Methadone
Antipsychotics (haloperidol)
Sotalol -
What is it?
What is it used for?
Class III antiarrhythmic agent (K+ channel blocking)
Treat AF
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
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
Treatment of malaria?
Atovaquone and proguanil
Apart from brachial plexus, what other nerve is anaesthetised in inter scalene nerve block?
Phrenic nerve
Transient ipsolateral diaphragmatic paralysis
What is biggest risk factor to trigger spontaneous gas gangrene?
Colonic malignancy - creates portal of entry for bacteria
Spore-forming, exotoxin producing, gram positive organism.
Clostridium septicum
Most common cause for spontaneous gas gangrene
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
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
HMG-CoA reductase inhibitors (statins) -
Effect
Side effects
Lower LDL cholesterol
Myalgias and an increase in hepatic transaminase levels
Thiazide diuretics (chlorthalidone, hydrochlorothiazide) side effects
Hyperglycemia
Hypertriglyceridemia
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
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
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)
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
Sodium bicarbonate -
What is it used to treat?
What does it do?
Cardiac toxicity
Increases serum pH and extracellular sodium
Formula for PPV
PPV = TP/(TP+FP)
Formula for NPV
NPV = TN/(TN+FN)
How do you reverse methotrexate toxicity in non cancerous cells?
What drug has the same intracelluar target as methotrexate?
Folinic acid (leucovorin)
trimethoprim
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)
Thickened bronchial walls, lymphocytic infiltration, mucous gland enlargement and patchy squamous metaplasia.
Leading cause?
Chronic bronchitis
Tobacco smoking leading cause of chronic bronchitis
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
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
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.
Methemoglobinemia -
Effect on skin?
Dusky discolouration of the skin
Blood partial pressure of oxygen
Anthracyclines -
Mechanism of action?
Toxicity?
Binds with topoisomerase II to cleave DNA
Binds with iron to generate free radicals
Dilated cardiomyopathy
Bleomycin -
Mechanism of action?
Toxicity?
Induces free radical formation
Pulmonary fibrosis
Cisplatin -
Mechanism of action?
Toxicity?
Cross-links DNA to inhibit DNA synthesis
Nephrotoxicity
Ototoxicity
Peripheral neuropathy
Cyclophosphamide -
Mechanism of action?
Toxicity?
Cross links DNA to inhibit DNA synthesis
Hemorrhagic cystitis
Bladder cancer
Paclitaxel -
Mechanism of action?
Toxicity?
Inhibits microtubule disassembly
Neuropathy
Vincristine/Vinblastine -
Mechanism of action?
Toxicity?
Binds beta-tubulin to inhibit microtubule formation - M phase of the cell cycle
Neuropathy - finger numbness and tingling
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
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
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
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
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)
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.
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
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
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
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
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
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
Low hemoglobin, low MCV -
Ddx?
Iron deficiency
Lead intoxication
Thalassemia
Sideroblastic anemia
Low hemoglobin, high MCV -
Ddx?
B12 deficiency
Folate deficiency
Low hemoglobin, normal MCV, decreased reticulocyte count?
Leukemia
Aplastic anemia
Anemia of chronic disease
Low hemoglobin, normal MCV, increased reticulocyte count?
Hemorrhage
Hemolysis: Spherocytosis G6PD deficiency Autoimmune Microangiopathic
Iron deficiency in secondary to menstrual blood loss - Serum ferritin? Circulating transferrin? Total iron-binding capacity? RBC?
Low
High
High
Microcytic, hypochronic RBCs
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
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.
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
Minimum age to diagnose ADHD
4-5 years
Sever hypoglycaemia with loss of consciousness treatment -
In non medical setting
In medical setting
Intramuscular Glucagon
IV dextrose
First pharyngeal arch derivatives?
Trigeminal nerve
Maxilla, zygoma, mandible, incus and malleus
(Also muscles of mastication)
Second pharyngeal arch derivatives?
Facial nerve
Styloid process of temporal bone, lesser horn of hyoid and stapes
(Also muscles of facial expression)
Genetic disorder resulting in abnormal development of the first and second pharyngeal arches? Other issues?
Treacher-Collins syndrome.
Issues with airway compromise and feeding.
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
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)
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
Methotrexate -
Mechanism?
Inhibits dihydrofolate reductase so it blocks the conversion of dihydrofolate to tetrahydrofolate and disrupts the synthesis of thymidine
Monoamine oxidase inhibitors -
Used for?
Mechanism?
Atypical depression
Inhibit the degradation of neurotransmitters NE, dopamine and 5-HT
What inhibits topoisomerase II?
Etoposide and teniposide
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
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)
The best test to monitor the anticoagulation effect of warfarin?
Prothrombin time or INR
The best test to monitor the anticoagulation effect of unfractioned heparin?
Activated partial thromboplastin time (aPTT)
GLUT-4 - where is it located? Where is the GLUT4 protein stored?
Skeletal muscle cells and adipocytes
Stored in cytoplasmic vesicles
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)
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.
What correlates with the potency of an inhaled anaesthetic?
Minimal alveolar concentration
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
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)
Albuterol -
What is it?
Used for?
Short acting selective beta-2 agonist
First line or asthma and COPD
Flunisolide -
What is it?
Used for?
Inhaled glucocorticoids
Treatment of persistent asthma and COPD with frequent exacerbations
Nifedipine -
Mechanism of action?
Side effects?
Bronchodilation by blocking calcium influc into bronchial SMCs
Peripheral edema and dizziness/lightheadedness
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
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
Host cell receptor -
HIV gp120
EBV gp350
Parvovirus B19
CD4
CD21
Erythrocyte P antigen
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
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.
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
What does telomerase add to chromosomes?
TTAGGG
What makes up active MS plaques?
Perivenular inflammatory infiltrates mades up of primarily auto reactive T lymphocytes and macrophages directed against myelin components.
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)-
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
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
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
Treatment of heparin OD?
Protamine
Vit K and FFP are ineffective
Fick’s principle cardiac output formula?
CO = rate of O2 consumption/arteriovenous O2 content difference
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.
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.
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.
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
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
1st pharyngeal arch
Trigeminal nerve
Maxillary artery
2nd pharyngeal arch
Facial
Stapedial artery
3rd pharyngeal arch
Glossopharyngeal nerve
Common carotid artery
Proximal internal carotid artery
4th pharyngeal arch
Superior laryngeal branch of Vagus
True aortic arch
Subclavian arteries
6th pharyngeal arch
Recurrent laryngeal branch of vagus
Pulmonary arteries
Ductus arteriosus
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
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
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
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
Oxidase positive, non-lactose-fermenting, gram-negative rods.
Pathogen?
Effect?
A hydrophila
Gastroenteritis, wound infections and bacteremia following exposure to contaminated water
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
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
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
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.
Enveloped double-stranded DNA virus
Hepadna (Hep B)
Herpes (Varicella, HSV-1, HSV-2)
Pox (smallpox)
Epstein Bar virus
Enveloped single-stranded positive sense RNA virus
Hepatitis C
Nonenveloped single-stranded positive sense RNA virus
Hepatitis E
Nonenveloped double-stranded DNA viruses
Adenoviruses, papillomaviruses and polyomaviruses (don’t normally cause hematopoietic depression or aplastic anemia)
Enveloped negative-sense RNA virus
Orthomyxoviruses (influenze), paramyxoviruses (measles and mumps) and rhabdoviruses (rabies)
Normally don’t infect erythroid progenitor cells
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
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
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
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
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
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
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
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
Medical complications for Anorexia
Osteoporosis - fragility fractures Amenorrhea Lanugo or hair loss Parotid hypertrophy (if binge/purge) Hypotension Hypothermia Bradycardia Cardiac atrophy Arrhythmias
Worrying meningitis triad?
Immediate decisions?
High fever >38
Stiff neck
Altered LOC
Blood cultures
Empiric abx
LP
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
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
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
Acute lead poisoning presents with constipation, anemia and irritability and confusion.
Treatment?
CaNa2 EDTA for lead toxicity by increasing urinary excretion.
Iron OD treatemnt?
Deferoxamine
Cyanide poisoning -
Symptoms?
Antidote?
Confusion, flushing/cherry red skin color, abdo pain and vomiting
Hydroxycobalamin (Vit B12 precursor)
What does methylene blue treat?
Symptoms?
Methemoglobinemia
(sulfa drugs or newborns)
Gray or blue colored skin, SOB and chocolate covered blood.
Pioglitazone -
Type of drug?
Side effect?
Thiazolidinediones
Weight gain and edema
Lithium -
Adverse effect
Diabetes insipidus
Hypothyroidism
Tremor
Ebstein anomaly
Valproate -
Adverse effect
Hepatotoxicity
Neural tube defects
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
Lamotrigine -
Adverse effects
Benign rash
Stevens-Johnson syndrome
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
11B hydroxylase vs 21 hydroxylase - difference?
11b - hypertension and hypokalaemia
21 - hypotension and hyperkalemia
Hypersensitivity Type 1 -
Humoral components
Cellular components
Examples
IgE
Basophils
Mast cells
Anaphylaxis
Allergies
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
Hypersensitivity type III -
Humoral components
Cellular components
Examples
(Immune complex)
Deposition of antibody-antigen complexes and complement activation
Neutrophils
Serum sickness
PSGN
Lupus nephritis
Hypersensitivity type IV -
Humoral components
Cellular components
Examples
(Delayed)
None
T cells and macrophages
Contact dermatitis
Tuberculin skin test
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
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.
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.
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
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
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
7 year old child presents with fever, malaise and a classic “slapped cheek” rash. Diagnosis?
Parvovirus B19
Retroperitoneal abdominal organs?
Suprarenal glands Aorta & IVC Duodenum Pancreas (head and body) Ureters & bladder Colon (ascending and descending) Kidneys Esophagus Rectum (mid-distal)
Vitamin B1 -
What is it?
Primary function?
Deficiency?
Thiamine
Decarboxylation off a-keto acids (carbohydrate metabolism)
Beriberi (peripheral neuropathy, heart failure)
Wernicke-Korseakoff syndrome
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.
Vitamin B6 -
What is it?
Primary function?
Deficiency?
Pyridoxine
Transamination of amino acids (amino acid synthesis)
Cheilosis, stomatitis, glossitis
Vitamin B9 -
What is it?
Primary function?
Deficiency?
Folate, folic acid
Hydroxymethyl/formyl carrier (purine & thymine synthesis)
Megaloblastic anemia
Neural tube defects (foetus)
Vitamin B12 -
What is it?
Primary function?
Deficiency?
Cobalamin
Isomerase & methyltransferase cofactor (DNA & methionine synthesis)
Megaloblastic anemia
Neurologic deficits
Vitamin C -
What is it?
Primary function?
Deficiency?
Ascorbic acid
Hydroxylation of proline & lysine (collagen synthesis)
Scurvy
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
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
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
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
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
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
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
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
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
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?
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
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
Metformin
Mechanism of action?
Side effects?
Stimulates AMPK decreasing glucose production and insulin resistance
Lactic acidosis (kidney insufficiency at risk)
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
Exenatide, Liraglutide
What is it?
Mechanism?
Side effects?
GLP-1 agonists
Increases glucose-dependent insulin secretion, decreases glucagon secretion, delays gastic emptying
Pancreatitis
Sitagliptin, Saxagliptin
What is it?
Mechanism?
Side effects?
DPP4 inhibitors
Increases endogenous GLP-1 and GIP levels
Nasopharyngitis
Acarbose, Miglitol
What is it?
Mechanism?
Side effects?
a-glucosidase inhibitors
Reduces intestinal disaccharide absorption
Diarrhea and flatulence
Canagliflozin, dapagliflozin
What is it?
Mechanism?
Side effects?
SGLT2 inhibitors
Increases renal glucose excretion
UTI
Hypotension
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)
Meningiomas -
Appearance?
Arise from?
Location?
Well circumscribes neoplasms
Arachnoid cells (external to brain parenchyma)
Located of sites of dural reflection (falx cerebri, tentorium cereblli)
Schwannomas -
Location?
Presentation?
(Benign tumours)
Arise from vestibular branch of cranial nerve VIII at cerebellopontine angle
Sensorineural hearing loss and tinnitus
Stop codons?
UAA
UAG
UGA
Type II pneumocytes functions
Regeneration of the alveolar lining following injury
Surfactant production
What causes maternal insulin resistance in the second and third trimesters?
Human placental lactogen secreted by syncytiotrophoblast
Bone appearance in HyperPTH?
Subperiosteal resorption with cortical thinning
Bone appearance in postmenopausal osteoporosis?
Trabecular thinning with fewer interconnections
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)
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)
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
Antioxidant enzymes that help acute compartment syndrome?
Superoxide dismutase
Glutathione perocidase
Catalase
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
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.
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
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
Where do gonadal arteries arise from?
Abdominal aorta
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
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
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
Antidote to serotonin syndrome
Cyproheptadine (5-HT antagonist)
Antidote to benzodiazepine OD
Flumazenil
Antidote for narcotic OD
Naloxone
Multiple ring enhancing lesion in HIV patient.
Diagnosis?
Other ways to get it?
Toxoplasmosis
Cat poop
Contaminated foods
Preventative agent following SAH to reduce morbidity and mortality
Calcium channel blocker
Nimodipine
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
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)
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
Embryological derivative of melanoma?
Neural crest (melanocytes)
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
Most common metastatic tumours to the brain?
Lung
Renal
Melanoma
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
Common pathogens causing nosocomial bloodstream infections
Coagulase-negative staph
Staph aureus
Enterococci
Candida species
Common benzos:
short acting
intermediate acting
long acting
Triazolam, midazolam
Oxazepam, alprazolam, lorazepam
Diazepam, chlordiazepoxide
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
Giardia lamblia -
Treatment?
Epidemiology?
Colonization?
Metronidazole
Most common enteric parasite in the US and Canada
Duodenal and jejunal mucosal lining
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
Sacubitril -
mechanism?
Inhibits Neprilysin preventing the degradation of ANP causing peripheral vasodilation and increased urinary excretion of Na and H2O
Leukotriene B4 -
function?
Stimulates neutrophil migration to sites of inflammation
Others include 5-HETE, C5a and IL8
Medication for treatment-resistant schizophrenia or schizophrenia associated with suicidality?
Adverse effects?
Clozapine
Agranulocytosis
Seizures
Myocarditis
Metabolic syndrome
Sensation of the anterior 2/3 of the tongue?
Mandibular division of the trigeminal nerve
Sensation of the posterior 1/3 of the tongue?
Glossopharyngeal nerve
C. diphtheria -
Toxin?
Microbiology?
Diphtheria toxin
Inactivates EF-2 via ribosylation thus inhibiting host cell protein synthesis
P aeruginosa -
Toxin?
Microbiology?
Exotoxin A
Inactivates EF-2 via ribosylation thus inhibiting host cell protein synthesis
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.
C botulinum -
Toxin?
Microbiology?
Botulinum toxin
Blocks the presynaptic release of ACh at the neuromuscular junction resulting in flaccid paralysis
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
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
Elevated free thyroxine (T4) and suppressed TSH with small thyroid and undetectable serum thyroglobulin.
Thyrotoxicosis
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.
Ependymomas -
Arise from?
Occupy?
Microscopy?
Ependymal lining of the ventricle
Occupy the 4th ventricle
Perivascular pseudorosettes
Glioblastoma multiforme -
Arising from?
Located?
Microscopy?
GFAP-positive astrocytes
Cerebral hemispheres (crossing corpus)
Pseudopalisading pleomorphic cells
Medulloblastoma -
Location?
Microscopy?
Cerebellum (cerebellar vermis)
Hyperchromatic nuclei that form Homer Wright rosettes
Oligodendrogliomas -
Location?
Microscopy?
Frontal lobe (calcified)
“fried egg” appearance surrounded by anastomosing capillaries
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
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)
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)
Gram negative rods
MacConkey agar
Lactose fermenter (pink colonies)
Fast fermenters?
Klebsiella
E Coli (also indole positive)
Enterobacter
Gram negative rods
MacConkey agar
Lactose fermenter (pink)
Slow fermenters?
Citrobacter
Serratia
Gram negative rods MacConkey agar Lactose non-fermenter (white) Oxidase negative TSI agar No H2S production (gas)?
Shigella
Gram negative rods MacConkey agar Lactose nonfermenter (white) Oxidase negative TSI agar H2S production (black)?
Salmonella
Proteus
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
Lab test for osteoblastic activity?
ALP
Lab tests for osteoclastic activity?
Urinary deoxypyridinoline
Urinary hydroxyproline
Tartrate-resistant acid phosphatase
Tumour lysis syndrome -
Labs?
Treatment?
Hyperphosphate
Hypocalcemia
Hyperkalaemia
Hyperuricemia
Allopurinol
Rasburicase
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.
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
Pituitary adenoma -
ACTH?
Cortisol?
High dose dexamethasone?
High, High
Cortisol reduces
Ectopic ACTH secretion -
ACTH?
Cortisol?
High dose dexamethasone?
High, high
Cortisol remains elevated
Adrenal adenoma/carcinoma -
ACTH?
Cortisol?
High dose dexamethasone?
Low, high
Cortisol remains elevated
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
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.
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
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.
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
Chediak-Higashi -
Important clinical findings
Oculocutaneous albinism, peripheral neuropathy and immunodeficiency as phagocyte phagosome-lysosome fusion
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
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
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
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
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
Diabetic retinopathy -
Presentation?
Blurry vision. black spots, floaters and decreased peripheral vision
1g of protein = how many calories of energy?
4
Metabolism of one gram of fat produces 9 calories
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
Nerve supply below the dentate line?
Inferior rectal nerve, branch of pudendal nerve
Key features of DCIS?
Central necrosis
Precancerous lesion
Confined to ducts and lobules
Key features of Paget disease?
Eczematous nipple lesion
Extension of DCIS into ducts
Key features of Ductal carcinoma?
Most common type
Nests and cords of cells
Key features of lobular carcinoma?
Small cells in single file
Mammary stroma invasion
Key features of Inflammatory breast cancer?
Peau d’orange
Dermal lymphatic invasion
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
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
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
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
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
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
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
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
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)
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
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
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
Heavy menses, constipation, urinary frequency, pelvis pain/heaviness and enlarged uterus.
Diagnosis?
Fibroids
Dysmenorrhea, pelvic pain, heavy menses with a bulky, globular and tender uterus.
Diagnosis?
Lab?
Adenomyosis
Presence of endometrial glands within the uterine myometrium.
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
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
Vancomycin -
Mechanism?
Adverse?
Blocks glycopeptide polymerization by binding tightly to D-alanyl-D-alanine
Red man syndrome
Nephrotoxicity
Daptomycin -
Mechanism?
Adverse?
Depolarise cellular membrane by creating transmembrane channels
Myopathy and CPK elevation
Inactivated by pulm surfactant
Linezolid -
Mechanism?
Adverse?
Inhibits bacterial protein synthesis by binding to 50S subunit
Thrombocytopenia
Optic neuritis
High risk for 5-HT syndrome
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.
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.
Ddx of back pain -
Radiates to leg
Sensory and motor findings
Positive straight leg raise test
Radiculopathy (e.g. disc herniation)
Ddx of back pain -
Pain with standing (spinal extension)
Relieved by spinal flexion
Spinal stenosis
Ddx of back pain - Young men HLA-B27 Relieved with exercise prolonged morning stiffness
Spondyloarthropathy
Ddx of back pain -
Constant pain
Worse at night
Not responsive to position changes
Spinal metastasis
Ddx of back pain -
Focal tenderness
Fevers and night sweats
Recent infection, IV drug abuse or immune compromise
Vertebral osteomyelitis
Postpartum blues - Prevalence? Onset? Symptoms? Management?
40-80%
2-3 days (usually resolves within 14 days)
Mild depression, tearfulness, irritability
Reassurance and monitoring
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
Postpartum psychosis - Prevalence? Onset? Symptoms? management?
0.1-0.2%
Variable: days to weeks
Delusions, hallucinations, thought disorganisation, bizarre behaviours
Antipsychotics, antidepressants, mood stabilisers
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
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)
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)
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
MHC class I -
Structure?
Antigen presenting results in?
Heavy chain and B2-microglobulin
Apoptosis of the presenting cell
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
Cystic fibrosis -
Transmembrane protein?
Associated GI disorder?
CF transmembrane conductance regulator protein
Impaired post-translational processing
ATP-gated
Meconium ileus
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
AV node location in the heart?
Septal leaflet of tricuspid valve and the orifice of the coronary sinus
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
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
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)
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
Ataxia telangiectasia -
Symptoms?
Gene?
Cerebellar ataxia, telangiectasias and increased risk of sinopulmonary infections
Ataxia telangiectasia Mutated gene (recessive) - responsible for DNA break repair
Achondroplasia -
Inheritance?
Gene?
Most common form of short-limbed dwarfism
Autosomal dominant
Gain-of-function mutation in the FGFR3 gene- germline mosaicism
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
3 main causes of HIV associated esophagitis?
Candida, CMV, HSV
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
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
HIV associated esophagitis -
CMV
Endoscopic findings?
Microscopic findings?
Linear ulcerations
Intranuclear and cytoplasmic inclusions
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
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)
Presence of S3 gallop?
Severe mitral regurgitation
Presence of S4?
Can be normal in healthy older adults or hypertrophic cardiomyopathy or concentric left ventricular hypertrophy (HTN/aortic stenosis)
Presence of mid systolic click?
Mitral valve prolapse
S2-to-opening snap time interval?
Mitral or tricuspid stenosis
Splitting of S2 accentuated by inspiration?
Normal
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
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
Treatment of Wernicke encephalopathy?
IV thiamine followed by glucose infusion
Primary HSV-1 -
Protein responsible for retrograde axonal transport?
Protein responsible for anterograde axonal transport?
Dynein
Kinesin (Secretory vesicles in nerve terminals)
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
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
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)
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.
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.
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
Alcohol withdrawal -
Symptoms?
Examination findings?
Tremors, agitation, anxiety, delirium, psychosis
Seizures, tachycardia, palpitations
Benzodiazepines -
Symptoms?
Examination findings?
Tremors, anxiety, perceptual distrubances, psychosis, insomnia
Seizures, tachycardia, palpitations
Heroin withdrawal -
Symptoms?
Examination findings?
Nausea, vomiting, abdominal cramping, diarrhea, muscle aches
Dilated pupils, yawning, piloerection, lacrimation, hyperactive bowel sounds
Stimulants (cocaine, amphetamines) withdrawal -
Symptoms?
Examination findings?
Increased appetite, hypersomnia, intense psychomotor retardation, severe depression
No significant findings
Nicotine withdrawal -
Symptoms?
Examination findings?
Dysphoria, irritability, anxiety, increased appetite
No significant findings
Cannabis withdrawal -
Symptoms?
Examination findings?
Irritability, anxiety depressed mood, insomnia, decreased appetite
No significant findings
Effect or acute ureteral constriction or obstruction on GFR and diltration fraction?
Decreases both
Acute Mitral regurgitation - Preload? Afterload? Contractile fraction? Ejection fraction? Forward stroke volume?
Increased Decreased nochange Increased Decreased
Compensated chronic MR - Preload? Afterload? Contractile function? Ejection fraction? Forward stroke volume?
Increased No change No change Increased No change
Decompensated chronic MR - Preload? Afterload? Contractile function? Ejection fraction? Forward stroke volume?
Increased Increased Decreased Decreased Decreased
What cell are androgens and progesterones synthesised in?
Theca interna (LH influence)
What cell are androgens converted to estradiol?
Granulosa (FSH influence) with enzyme aromatase
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
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.
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)
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
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.
Genes affected in reciprocal translocation between chromosome 9 and 22?
Diagnosis?
Bcr-abl hybrid (Philadelphia chromosome)
Chronic Myelogenous leukemia (CML)
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
Increased phospholipid content in amniotic fluid determines?
Lung maturity (dipalmioyl phosphatidycholine) >=2 is considered mature
Increased amniotic fluid bilirubin levels?
Erythroblastosis fetalis
Latanoprosy -
What is it?
Used for?
Mechanism of action?
Topical prostaglandin
Glaucoma
Increases outflow of aqueous humor
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
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
Most common malignant hepatic lesion?
Metastasis from another site
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
Collagen in mature scars?
Type 1
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
