QB - DISEASES(1) Flashcards
1
Q
Burkitt lymphoma
A
t(8;14)
c-myc
2
Q
CML
A
t(9;22) - Philadelphia chromosome
bcr-abl “enable things to occur rapidly = increase TYROSINE KINASE activity”
tyrosine kinase = initiator of many processes
ELEVATED WBCs and platelets
3
Q
Mantle cell lymphoma
A
t(11;14)
cyclin D1 - promoter of G1 to S-phase transition of cell cycle (cancer!!)
4
Q
CLL
A
Deletion of 13q
5
Q
AML
A
M3 variant of AML
Auer rod
t(15;17)
6
Q
Follicular lymphoma
A
t(14;18)
BCL2 - antiapoptosis
7
Q
Li-Fraumeni
A
Autosomal dominant
mutation of p53 (tumor suppressor gene)
Sarcomas
Tumors = breast, brain, adrenal cortex
8
Q
Wiskott-Aldrich (triad)
A
- eczema
- Recurrent infections
- Thrombocytopenia
9
Q
Hemolytic Uremic Syndrome (HUS) symptoms; what organisms cause HUS?
A
- Microangiopathic hemolytic anemia (conjunctival pallor = anemia)
- Thrombocytopenia
- Acute renal failure
Due to Shiga toxin-producing organisms: Shigella dysenteriae or E. coli O157:H7
10
Q
Aplastic anemia
A
Bone marrow damaged - deficiency in all 3 blood cell types
Chloramphenicol use
Sickle cell disease (parvovirus B19)
11
Q
DiGeorge syndrome
A
Maldevelopment of 3rd & 4th pharyngeal pouches
Hypoplasia of thymus & parathyroids
Cardiac & aortic arch abnormalities
Characteristic facies
12
Q
Chediak-Higashi syndrome
A
Oculocutaneous, hair, skin albinism
Peripheral neuropathy
Immunodeficiency (phagocyte-phagosome-lysosome fusion defect) –> recurrent pyogenic infections
13
Q
Ataxia-telangiectasia syndrome
A
Progressive ataxia w/ telangiectasia + immunodeficiency (combined defect of B&T-lymphocytes)
14
Q
CO poisoning
A
No effect on PaO2 (partial pressure of oxygen dissolved in plasma)
Reduces O2 unloading from Hgb and prevents O2 binding to Hgb
15
Q
Multiple Myeloma
A
Plasma cells infiltrate bone marrow - “clock face” nuclear chromatin
Features:
- Anemia (due to infiltration of plasma cells and inadequate hematopoiesis)
- Bone resorption (IL-1 activates osteoclasts), IL-6
- Hypercalcemia (due to bone destruction)
- Susceptibility to infection (M protein, Ig light chains BENCE JONES protein); Hyperimmunoglobulinemia –> Rouleaux formation –> increased ESR
- AL amyloid (“apple-green birefringence w/ Congo red stain)
- Renal failure (deposition of amyloids in kidney tubules, heart, tongue, nervous system)
16
Q
Diarrhea (parasitic – eosinophilia seen)
A
- Strongyloides
- Ancylostoma
- Ascaris
- Toxicara
- Trichura
- Trichinella
17
Q
Diarrhea (bacterial)
A
EIEC or Shigella – pus + RBC
EHEC (O157:H7) – NO pus - ONLY RBC!
18
Q
Mycoplasma pneumoniae
A
“Walking pneumonia”
Anemia due to RBC lysis via COLD agglutinins (share antigens similar to RBCs)
Stevens-Johnson syndrome + joint pain sequelae
Requires cholesterol to grow (doesn’t have peptidoglycan layer)
Chest CT looks like severe pneumonia even though patients don’t seem as sick
19
Q
CMV
A
DS-DNA enveloped virus
Opportunistic
Transplant patient
Enlarged, centrally located epitherlial cell + INTRANUCLEAR CYTOPLASMIC inclusions
20
Q
Haemophilus influenza
A
Require Factor X (hematin) and V factor (NAD+) to survive
Can be grown on medium w/ S. aureus or on chocolate agar
21
Q
Diff. btwn Staph and Strep
A
Catalase + –> STAPH
22
Q
Corynebacterium diphtheriae
A
AB exotoxin
Toxin-mediated disease
23
Q
E. coli
A
Conjuation via bacterial pili
Grows on MacConkey and EMB (eosin methylene blue) agar
Gram -
Neonatal meningitis (K-1 antigen)
24
Q
Group B Strep (GBS)
A
1 Cause of neonatal meningitis
Others: Listeria Klebsiella H. influenzae (type b) E. coli
25
Enterobius vermicularis
Scotch tape test
Perianal itching (at night)
Albendazole/Mebendazole
Pyrantel pamoate (pregnant pts.)
26
```
Loa loa
Wuchereria bancrofti (lymphatic filaris)
```
Diethylcarbamazine
27
```
Strongyloides sterocoralis (strongyloidiasis)
Onchocerca volvulus (onchocerciasis)
```
Ivermectin
28
Trypanosoma cruzi (Chagas disease)
Nifurtimox
29
```
Schistosoma (schistosomiasis)
Clonorchis sinensis (clonorchiasis)
Paragonimus westermani (paragonimiasis)
```
Praziquantel
30
Hemolytic Uremic Syndrome (HUS)
```
E. coli 0157:H7
Occurs in children UNDER 10
Shiga like toxin
Contaminated ground BEEF
Bloody diarrhea
```
31
Diarrhea (FOOD consumption)
S. aureus - custard/mayo/processed salted meats
Preformed toxins - WATERY diarrhea (not bloody) - RAPID symptoms due to preformed toxins (resolves in 24hrs)
Bacillus cereus - fried rice
Vibrio parahaemolyticus - raw oysters - HIGH VOLUME, WATERY diarrhea (like cholera)
Salmonella - raw egg/raw chicken
Clostridium botulinum - improperly canned foods
32
Histoplasmosis in HIV patient
Pulmonary infiltrates w/ HILAR LYMPHADENOPATHY
Oval/round yeasts within macrophages (bone marrow slide)
Sabouraud's agar = hyphae
HEPATOSPLENOMEGALY = likes reticuloendothelial system
Histoplasmosis - Mississippi & Ohio River Valley
33
Coccidioides immitis
```
Southwest US (Arizona) - San Joaquin Valley fever
Spherules rupture --> release endospores
Lung disease -> meningitis (HIV pts.)
```
34
Cryptococcus neoformans
Pigeon droppings
MENINGITIS + pulmonary infections (HIV pts.)
Budding yeasts w/ thick capsules
Stains red on mucicarmine stain - use bronchopulmonary washings
Opportunistic
CSF findings w/ India ink - confirms diagnosis
Peripheral clearings "halos" due to think polysaccharide capsules
35
Aspergillus fumigatus
Colonize old lung cavities (TB patients)
| Hemoptysis
36
Opportunistic mycoses
Candida albicans
A. fumigatus
Mucor & Rhizopus
37
Clostridium perfringens
Gram + lives in soil
Anaerobic environment
Toxin = phospholipase that attacks cell membranes
Myonecrosis - GAS GANGRENE
Late-onset food poisoning: Transient watery diarrhea
38
Polyarthritis
Gonorrhea
Rheumatic fever
Strep pyogenes (group A)
39
Meningitis
M. tuberculosis
Acanthamoeba
Cryptococcus neoformans
40
Strep penumoniae
Lobar consolidation on CXRay
41
Klebsiella pneumoniae
Alcoholic coughing up "currant jelly sputum"
42
L. pneumophilia
Needs L-cysteine-supplemented agar
43
Coxiella burnetii
Q fever
Mild pneumonia symptoms
Contaminated animal hides
44
Pneumocystis jiroveci
Fungus in HIV+ patients
| Ground glass infiltrates on CXRay
45
Herpes simplex 2
Multinucleated giant cells
Pinkish-purple intranuclear inclusions (Cowdry type A bodies)
Treat w/ Acyclovir, Valacyclovir, Famciclovir
46
Treponema pallidum
Gram - spirochete
| Chancre that heals without treatment within few weeks
47
Haemophilus ducreyi
Tender, red papule on external genitals - PAINFUL!
48
Chlamydia trachomatis
```
Lymphogranuloma venerum (LGV)
PainLESS ulcers --> painful inguinal lymphdenopathy & ulceration (later progression)
```
49
Actinomyces israelii
Cervicofacial actinomycosis following dental procedure (oral trauma)
Slow growing/firm feeling abscess in face/neck region
Forms "sulfur granules"
Penicillin + surgical debridement
50
Rocky Mountain Spotted Fever
Palmoplantar erythematous macules - petechial eruption
Headache, fever, conjunctival hyperemia
Doxycycline
51
Cutaneous anthrax
Local edema + papule at inoculation site
Painless necrotic wound + black eschar
Ciprofloxacin
52
Pasteurella multocida
Oral flora of cats + dogs (humans get infected w/ cat bite)
53
Strep penumoniae (virulence factors)
MAJOR: polysaccharide capsule that INHIBITS phagocytosis by macrophages + PMN leukocytes
"Quellung reaction" - antibodies to capsule causes capsules to swell --> destruction of capsules renders S. pneumonia NONvirulent
Additional factors: pneumolysin - suppresses phagocyte's oxidative burst; adhesin
Alpha-hemolytic (incomplete "green" hemolysis on blood agar)
54
Aspergillus fumigatus
Mucormycosis - diabetes mellitus + diabetic ketoacidosis
| Immunocompromised (opportunistic infection)
55
Herpes simplex 1 (HSV-1)
```
CHILDREN - 1 to 3 yrs
Gigivostomatitis (swollen gums, ulcerative lesions)
Lymphadenopathy
Intranuclear inclusions
Enveloped DS DNA virus
```
Measles also infect this age group and lesions also have intranuclear inclusions but have BLUISH-GRAY KOPLIKE spots on buccal mucosa
56
IntraAbdominal abscess
B. fragilis
E. coli
----
S. aureus - abscess on skin
Actinomyces - abscess in cervicofacial region/abdominal cavity
Candida albicans - perforation of proximal bowel (peptic ulcer)
E. histolytica - amebic liver abscess
57
Borrelia burgdorferi
Lyme disease - Ixodes tick
| Red macules that are ring-shaped w/ CENTRAL clearing - ERYTHEMA CHRONICUM MIGRANS
58
Treponema pallidum
Condyloma lata - generalized macular eruption
59
Leptospira interrogans
Weil's syndrome: hepatic dysfunction --> conjugated hyperbilirubinemia, renal dysfunction, thrombocytopenia, bleeding
60
Bartonella henselae
Cat scratch fever
| Lymphadenopathy, malaise, fever
61
Antibiotic resistance
Penicillin binding protein (PBP) - MRSA
Resistance including penicilinase-stable penicillins (oxacillin, nafcillin, methicillin)
Mutation in RNA polymerase - Rifampin resistance
Decrease in levels of drug accumulation (decreased uptake/increased efflux) = Tetracycline + Sulfonamides
Mutation in DNA gyrase = quinolone resistance
62
Clostridium botulinum
Spore forming ANAEROBIC bacillus
Botulinum toxin prevents presynaptic release of Acetylcholine (Ach) --> muscular relaxation
Toxin used as therapy to treat focal dystonias, achalasia (lower esophageal sphincter), and muscle spasms
63
Hypervariable pili
Neisseria meningitidis
| N. gonorrhoeae
64
Staph aureus
IgG binding outer membrane protein (protein A)
| Protein A binds Fc portions of IgG --> prevents opsonization, phagocytosis, complement fixation
65
Corynebacterium diphtheriae
Intracellular polyphosphate granules
66
Respiratory tract infections (CHILDREN)
1. Nasopharyngitis (Rhinovirus, Influenza, Coronavirus)
Congestion, discharge, sneezing, sore throat
2. Laryngotracheitis/Croup (Parainfluenza)
Barking cough, stridor
3. Diphtheria (Corynebacteriu diphtheriae)
Pseudomembrane
4. Epiglottitis (H. influenzae)
Dysphagia, drooling
5. Bronchiolitis (RSV)
Wheezing
67
Togavirus
```
German measles (Rubella)
Eastern & Western equine encephalitis
```
68
Parvovirus
Aplastic crises in sickle cell anemia
Erythema infectiosum (5th disease)
Huydrops fetalis
69
Calicivirus (Norwalk virus)
Viral gastroenteritis
70
Parainfluenza virus
Brassy, BARKING cough (CROUP)
Viral laryngotracheitis
Paramyxoviridae
71
Toxoplasma gondii
Obligate intracellular
HIV patients
Encephalitis - multiplenecrotizing brain lesions
Ring-enhancing lesions in both hemispheres
Pyrimethamine & sulfadiazine
72
HIV - gag, pol, env
```
gag = nucleocapside proteins p24 and p7
pol = reverse transcriptase
env = envelope and gp120 and gp41
```
73
CMV vs EBV
EBV = mononucleosis
Symptoms: fever, malaise, myalgia, atypical lymphocytosis, elevated liver transaminases, heterophil antibodies (causes RBC to agglutinate)
CMV = similar symptoms to EBV except...
Don't see heterophil antibodies
CMV in immunocompromised:
Severe retinitis, pneumonia, esophagitis, colitis, and/or hepatitis.
74
Parvovirus
```
Erythema infectiosum (fifth disease) in children
Bright red rash on cheeks 5-7 days after fever
```
In adults: arthritis resembing rheumatoid arthritis -- but it resolves spontaneously
75
Rheumatic fever
migratory pain/swelling in large joints
fever, carditis, choreaform movements, erythema marginatum
occurs a few weeks after STREP pharyngitis
76
SLE
Malaise, weight loss
MALAR facial rash
arthralgias in young women
77
Anthrax
```
Widened mediastinum (hemorrhagic mediastinitis)
Wool-sorting business
Gram + rods
Antiphagocytic D-glutamate capsule
Serpentine/medusa head on appearance
```
78
Intracellular polyphosphate granules
| Loeffler medium stain w/ methylene blue
Corynebacterium diphtheriae
79
Pertrichous flagella
Proteus mirabilis
80
Cat Scratch disease
Bartonella henselae
Focal lymphadenopathy
Bacillary angiomatosis in immunocompromise pts. (red-purple papular skin lesions)
81
Hemolytic Uremic Syndrome (HUS)
E. coli O157:H7
Microangiopathic hemolytic anemia
Thrombocytopenia
Renal insufficiency
82
Reiter's syndrome
HLA-B27 positive reactive arthritis
Urethritis
Conjunctivitis
Chlamydia, Salmonella, Shigella, Yersinia, Campylobacter infections
83
Condylomata acuminata
Genital warts
| HPV 6 + 11
84
Xeroderma pigmentosum
Pigmented dry skin
Lack of DNA excision repair - can't repair DNA in skin following UV damage
Erythema, scaling, hyperpigmnetation, lentigo (pigmented papules)
Related: Fanconi anemia, Bloom syndrome (hypersensitivity to UV damage and chemo agents)
85
Granulomatous diseases (10)
1. Mycobacterium tuberculosis
2. Histoplasmosis, Coccidiodomycosis
3. Treponema pallidum (syphilis)
4. M. leprae (leprosy)
5. Bartonella henselae (Cat scratch disease)
6. Sarcoidosis
7. Crohn's disease
8. Granulomatosis with polyangiitis (Wegener's)
9. Churg-Strauss syndrome
10. Berylliosis, silicosis
86
Granulomatous disease mechanism
TH1 cells --> gamma-interferon secretion --> activates macrophages --> produces TNF-alpha --> granuloma formation
Anti-TNF drugs cause sequestering granulomas to break down --> disseminated disease
87
Tuberous Sclerosis
Facial angiofibroma
Seizures
Mental retardation
88
Tuberous Sclerosis (associated neoplasms)
Giant cell astrocytoma
Renal angiomyolipoma
Cardiac rhabdomyoma
89
Small cell lung carcinoma
Paraneoplastic syndrome
| Cushing's (ACTH), ADH (SIADH), Anti-Ca2+ channels (Lambert-Eaton)
90
PKU
Mental retardation
Hypopigmentation (skin, eyes, basal ganglia -- substantia nigra, locus ceruleus, vagal nucleus dorsalis)
"Mousy" or musty odor
Phenylalanine cannot be converted to tyrosine; lack of phenylalanine hydroxylase or cofactor tetrahydrobiopterin (BH4)
91
Accumulation of phenylalanine in brain
Mental retardation
Seizures
Disease seen in PKU (fair skinned, blonde hair, blue eyes, musty odor pt.)
92
Chvostek's sign
Facial muscle contraction elicited by tapping on facial nerve (anterior to ear) -- occurs when Ca2+ levels LOW (less than 7.0mg/dL)
Primary hypoparathyroidism = loss of parathyroid tissue during thyroidectomy
93
Polycystic ovarian syndrome
PERSISTENTLY elevated estrogen, androgen, LH levels
Hyperandrogenism, Anovulation, Oligomenorrhea, multple ovarian cysts
Theca cell hyperplasia --> excess androgens (acne, hirsutism, male pattern balding, virilization)
Obesity, insulin resistance, dyslipidemia --> increase risk of diabetes and cardiovascular disease
Excess estrogen - thickened endometrium - increase risk of developing endometrial hyperplasia & carcinoma
Treatment w/ weight loss & oral contraceptives
94
Addison's disease
Primary defect in adrenal coritosl -- NO feedback inhibition of anterior pituitary pro-opiomelanocortin (POMC)
POMC continues to make ACTH and MSH (melanocyte stimulating hormone) --> hyperpigmentation
95
TRH (thyroid releasing hormone) defect
Lack of TSH and prolactin
96
Lechithinase (alpha toxin)
```
C. perfringens
destroys lecithin (cell phospholipid membrane)
destruction of cells --> necrosis/hemolysis, cell death
```
97
Gestational diabetes mellitus
HUMAN PLACENTAL LACTOGEN
Similar to GH and prolactin - causes INCREASE in insulin resistance to increase serum glucose; increase serum glucose shunted to developing fetus for increasing energy requirements
98
Fracture of midshaft of humerus
Radial nerve + deep brachial artery damage
| Loss of extensors in forearm and at wrist
99
Fracture to surgical neck of humerus
Axillary nerve + Anterior circumflex humeral a.
100
Fracture to supracondylar humerus
Brachial artery
101
Primary adrenal insufficiency vs. Secondary/Tertiary (pituitary/hypothalamus)
Primary - hyponatremia, hyperkalemia, hypochloremia, metabolic acidosis
Secondary/Tertiary - do NOT have hyperkalemia or metabolic acidosis; WILL respond with serum cortisol production when exogenous ACTH is administered
102
Hyponatremia, hypokalemia, hypochloremia w/ metabolic alkalosis
Diuretic use (contraction alkalosis -- increased bicarb absorption)
103
Positive Trendelenburg
Superior gluteal n. = weakness in gluteus medius and minimus; walk w/ waddling gait/characteristic limp
104
Difficulty rising from seated position
| Difficulty climbing stairs
Inferior gluteal nerve (gluteus maximus)
Lambert-Eaton myasthenic syndrome and myasthenia gravis also have proximal muscle weakness
105
Deficit in thigh adduction
Obturator nerve
106
Loss of knee reflex (extension of leg at knee)
| Loss of anterior thigh sensation
Femoral n.
107
Knee flexors (hamstrings)
Sciatic n.
108
21-hydroxylase deficiency
MOST COMMON congenital adrenal hyperplasia
Can't make aldosterone or cortisol (get buildup of 11-deoxycorticosterone and 11-deoxycortisol)
ACTH is elevated bc there's not feedback inhibition from cortisol (cortisol isn't being made)
Test for 17-OH progesterone (buildup of precursor products)
Accumulating aldosterone and cortisol precursors shunted to androgen pathway --> females have AMBIGUOUS genitalia (VIRILIZATION)
Males have normal genitalia - have symptoms later w/ SALT-WASTING or precocious puberty
109
Desmolase
Conversion of cholesterol to pregnenolone (absence of this enzyme results in complete absense of steroid hormones) = INCOMPATIBLE w/ life
110
17-hydroxylase deficiency
Can't make androgens - everything diverted to make mineralcorticoids (aldosterone)
Salt retention --> HTN
ALL phenotypically "FEMALE" due to impaired androgen synthesis
111
Deficiency of DHT (in utero)
Androgen insensitivity syndrome
112
PTH
Increase osteoclastic bone resorption
Increase DISTAL tubular absorption of calcium
Increase formation of 1,25-dihydroxy vitamin D (via upregulation of 1-alpha hydroxylase)
1,25-dihydroxy vitamin D increases GI absorption of Ca2+
SECONDARY hyperparathyroidism:
Patients w/ RENAL FAILURE -- DECREASED formation of 1,25-dihydroxy vitamin D --> decreased absorption of Ca2+
RENAL FAILURE - elevated phosphorous (can't be excreted) --> increase PTH hormone "secondary hyperparathyroidism" bc PTH is antagonistic to phosphorous (will cause elimination of phosphorous)
113
PTH-independent hypercalcemia
```
Humoral hypercalcemia of malignancy
Vitamin D toxicity
Excessive ingestion of Ca2+
Thyrotoxicosis
Immobilization (Ca2+ is resorbed from inactive bones)
```
114
Adrenal crisis
"Shock-like state"
Hypotensive, tachycardic, hypoglycemic
Adrenal insufficency (vomiting, abdominal pain, weight loss, hyperpigmentation due to MSH overstimulation)
Patients w/ adrenal insufficiency - can't make glucocorticoids essential for cardiovascular + metabolic adaptations during stressful situations
115
Inactive FSH receptors
Lack of spermatogenesis and inhibin B production
LH release testosterone from Leydig cells (testosterone feeds back to inhibit LH)
FSH releases inhibin B from Sertoli cells (inhibin feeds back to inhibit FSH)
FSH does NOT make testosterone but is responsible for ANDROGEN-BINDING protein which binds testosterone and elevates local testosterone that is necessary for spermatogenesis
116
Lambert-Eaton myasthenic syndrome (LEMS)
1/2 patients have associated malignancy: SMALL CELL lung cancer
Similar symptoms to myasthenia gravis: diplopia, ptosis, dysarthria, dysphagia
Differences:
LEMS - hyporeflexia/areflexia, autonomic symtpoms, classic incremental response to repetitive stimulation
117
Myasthenia gravis
Thymoma & thymic hyperplasia (appears as ANTERIOR mediastinal mass)
Autoimmune condition - weakness of facial, periocular, bulbar, and pelvic girdle muscles
Ascending muscle weakness (demyelination) - T lymphocyte and macrophage infiltration
Campylobacter infection
118
Polymyositis
Idiopathic inflammatory myopathy
Bilateral proximal weakness
Elevated creatine kinase (CK)
119
Polymyalgia rheumatica (PMR)
Sudden onset stiffness, pain, tenderness of musculature (shoulders, hips, neck, torso)
Elevated ESR
120
ALS
UMN involvement (hyperreflexia, spasticity) coupled w/ LMN involvement (atrophy, fasiculations)
121
Multiple sclerosis
Autoimmune: 20-30yr old females
Increased IgG in CSF
Demyelinating lesions in brain/spinal cord
Optic neuritis: sudden loss of vision w/ painful eye movements
Cerebellar damage: intention tremor
122
Guillan-Barre
Acute postinfectious polyneuropathy
| Nonspecific prodromal malaise/nausea FOLLOWED by progressive ascending paralysis
123
Bitemporal hemianopsia (endocrine effect)
Pituitary tumor - PROLACTINOMA
Prolactin inhibits entire GnRH-LH/FSH axis
Impotence in men/Amenorrhea in women (hypogonadtropic amenorrhea)
Men = decreased GnRH, decreased FSH, decreased LH, decreased testosterone
Dopamine inhibits prolactin via D2 dopamine receptor on lactotrophs (damage to hypothalamus --> hyperprolactinemia)
124
Sheehan syndrome
Postpartum hemorrhage (hypotension) --> ischemic necrosis to pituitary (that enlarged and became more vascular during pregnancy)
Panhypopituitarism:
Woman can't lactate - prolactin deficiency
Hypothyroidism = excessive weight loss and malaise
Hypocortisolism
125
Autoimmune hypophysitis (inflammation of pituitary)
Acute presentation: headaches, visual field deficits
Also low cortisol
Occurs late pregnancy or early postpartum
126
Pituitary apoplexy
Hemorrhage in preexisting pituitary adenoma - emergency!!
| Acute, severe headache, ophthalmoplegia, altered sensorium
127
Vascular deposition of circulating immune complexes
SLE, Rheumatoid arthritis, connective tissue
128
Type I hypersensitivity
IgE mediated
IgE produced by B lymphocytes + plasma cells
Specific for allergens (IgE) -- crosslinking of IgE molecules on surface of basophils and mast cells --> degranulation of HISTAMINE
129
SIADH
Hyponatremia + lung mass (small cell carcinoma of lung**)
SIADH --> excessive water reabsorption --> HYPERVOLEMIA renin/angiotensin stimulates natriuretic peptides --> excrete Na+ in urine (hyponatremia)
Patients have normal body fluid volume but LOW plasma osmolality (euvolemic hyponatremia)
Low plasma sodium & osmolality, inappropriately concentrated urine (even though there's no Na+ around to cause concentration of urine), increased urinary sodium, and normal body fluid volume
130
Estrogen effect on T4
Estrogen increases amount of TBG (thyroid binding globulin) --> increase level of total T4 and T3
Free thyroid hormones = stay SAME so patients are euthyroid w/ normal TSH
Increases in circulating T4 seen in pregnancy, oral contraceptives, hormone replacement therapy
131
Psoriasis
Hyperparakeratosis, acanthosis, rete ridge elongation
Mitotic activity above basal cell layer
Reduced/absent stratum granulosum
132
Dermatitis herpetiformis
Pruritic vesicles/plaques on extensor surfaces
Gluten enteropathy
133
Erythema nodosum
Painful, reddish nodules on shins
Oral contraceptives, Strep pharyngitis, IBS, Sarcoidosis
134
Fracture of femoral head & neck
Medial femoral circumflex artery damage --> avascular necrosis of femoral head
135
Recurrent nosebleeds, swollen gums, ecchymoses, hyperkeratosis, ulcer on lower extremity
Vitamin C deficiency (scurvy) = decreased connective tissue strength
Vitamin C needed to hydroxylate proline + lysine via prolyl and lysyl hydroxylases
136
PID
Chlamydia/gonorrhea
PID --> ectopic pregnancy
Increase changes of ectopic pregnancy due to previous abortions, exposure to DES
137
Yeast infection risk factors
Antibiotic use recently
| Diabetes
138
Kid w/ SORE THROAT + rash
```
Strep infection causing scarlet fever
PYROGENIC toxin
---
Endotoxin: Gram - sepsis
M protein: Rheumatic fever*
Alpha toxin: C. perfrigens
```
139
Crohn's disease in relation to bladder
Causes fistula w/ bladder
140
Umbilicated, flesh-colored papules in kid (red dot in middle of cell)
Molluscum contagiosum
| Pox virus
141
Otitis externa (tenderness when tugging on outside of ear)
Pseudomonas - "blue green" - wet
| Associated w/ water (hot tubs, burns)
142
CSF pathway through ventricles
Lateral --> 3rd ventricle via FORAMINA OF MONRO
3rd --> 4th ventricle via CEREBRAL AQUEDUCT (of Sylvius)
4th ventricle --> subarachnoid space via FORMINA of LUSCHKA (lateral)/MAGENDIE (medial)
CSF return to venous circulation via ARACHNOID VILLI (granulations)
143
Types of hydrocephalus
Communicating - blockage in subarachnoid space (fibrosis); no blockage in brainstem
Normal pressure - CSF NOT absorbed
Hydrocephalus ex vacuo - increase CSF VOLUME
Pseudotumor cerebri: overweight young females - decreased CSF outflow at arachnoid villi
144
Coarctation of aorta
Turner syndrome, bicuspid aortic valves
BP elevated proximal to coarctation, BP decrease distal to coarctation
145
Duodenal atresia
Down syndrome
Bilious vomiting without abdominal distention - 1st day of life! (duodenal lumen fails to recanalize)
Polyhydramnios
146
Renal agenesis in utero
Potter syndrome
Oligohydramnios/facial dysmorphism
Pulmonary hypoplasia
147
Ebstein's anomaly
ATRIALIZED right ventricle (downward displacement of tricuspid valve)
maternal exposure to LITHIUM*
148
Failure of neural tube fusion
a-fetoprotein (AFP) + acetylcholinesterase levels ELEVATED
ANTERIOR neuropore:
- encephalocele (herniation of brain tissue through cranial defect)
- anencephaly (absence of brain/calvarium)
POSTERIOR neuropore (more common):
- spina bifida occulta
- meningocele
- meningomyelocele
149
Vertical vs. Horizontal diplopia
```
Vertical diplopia (walking downstairs): CN IV (trochlear)
Horizontal diplopia: CN VI (abducens) -- also have esotropia (inward deviation of eye)
```
150
Lesion of medial longitudinal fasciculus (MLF)
Internuclear ophthalmoplegia
Impaired horizontal eye movement; weak ADDUCTION of affected eye w/ simultaneous nystagmus of CONTRA eye (trying to compensate)
151
Progressively weakening diaphragmatic contractions on inspiration
Neuromuscular junction pathology - MYASTHENIA GRAVIS
| Rapid diaphragmatic muscle fatigue - restrictive lung/chest wall disease
152
Guillain-Barre
Acute demyelinating disease (following infection, immunization, allergic reaction)
Antibodies to some infectious agent that contain gaglioside-like substance cross-react w/ ganglioside components of MYELIN --> SEGMENTAL DEMYELINATION & ENDONEURAL INFLAMMATORY INFILTRATE
Ascending muscle weakness (following respiratory or GI infection)
Campylobacter jejuni
Absence of deep tendon reflexes (DTRs)
Paralysis of respiratory muscles - fatal!
CNVII - Bell's palsy (if cranial nerves affected)
153
Werdnig-Hoffman
LMN
| "floppy child" syndrome
154
Lambert-Eaton
Resembles myasthenia gravis
Associated w/ small cell lung carcinoma
Autoantibodies w/ presynaptic Ca2+ channels -- no release of Ach
155
Differentiate Myasthenia gravis & Lambert-Eaton
Both weakness of proximal muscles
```
MG:
Ptosis, Diplopia
Thymoma risk
Antibodies against ACh receptors
Nerve stimulation studies - DECREASE response
Weakness of muscles WORSE w/ exertion
```
L-E:
Pre-existing malignancy
Antibodies against pre-synaptic Ca2+ channels
Nerve stimulation studies - INCREASE response
Weakness of muscles BETTER w/ exertion and exercise (better at the end of the day)
156
Subacute combined myelopathy
Vitamin B12 deficiency
DORSAL COLUMNS + LATERAL CEREBROSPINAL tracts affected
loss of position/vibration sensation, spastic paresis, ataxia
157
Primary CNS tumor in AIDS patients
```
CNS lymphoma (diffuse large B-cell lymphoma) - CD20 + CD79a
EBV related - poor diagnosis
```
158
Meningiomas
Adjacent to brain surface + attached to dura mater
159
Craniopharyngiomas
Suprasellar region - can be CALCIFIED
| Endocrinopathies (hypopituitarism)
160
Intracranial schwannomas
Cerebellopontine angle
| CN VIII compression symptoms (hearing loss, tinnitus, loss of balance)
161
Fragile X syndrome
mild, severe mental retardation (second most common cause of mental retardation; #1 is Down Syndrome)
long thin face, prominent forehead + jaw
macroorchidism (large testes!)
FMR-1 gene (familial mental retardation gene-1)
CGG trinucleotide repeat
hypermethylation of CYTOSINE bases -- gene inactivated
162
DNA mismatch repair gene DEFECT
Lynch syndrome
| increased risk of hereditary non-polyposis colorectal cancer (HNPCC)
163
Chromosomal instability disorders
1. Xeroderma pigmentosum
2. Ataxia-telangiectasia
3. Fanconi's anemia
4. Bloom syndrome
164
Fulminant meningococcemia
Waterhouse-Friderichsen syndrome
bilateral adrenal hemorrhage --> adrenal insufficiency --> hypotension --> death
DIC, shock
N. meningitidis
pharynx --> blood --> choroid plexus --> meninges
165
```
Route of infection for:
H. influenzae
S. pneumoniae
S. aureus
M. tuberculosis
```
1. H. influenzae: pharynx --> lymphatics --> meninges (infants/children)
2. S. pneumoniae: middle ear --> contiguous tissues --> meninges
3. S. aureus: skull trauma --> leaking CSF --> meninges (get abscess)
4. M. tuberculosis: lung focus --> blood --> meninges
166
Rabies encephalitis
Restlessness, agitation, dysphagia --> progressing coma --> death
Vaccine: KILLED rhabdovirus strains
Rabies virus = -ssRNA
167
PKU
Lack of phenylalanine hydroxylase
Inability to convert phenylalanine to tyrosine
TYROSINE becomes an essential aa
excess phenylalanine inhibits tyrosinase (synthesis of melanin from tyrosine) --> fair skinned people
168
Lead poisoning (enzymes affected)
1. d-Aminolevulinate dehydratase
2. Ferrochelatase
d-ALA (d-aminonlevulinic acid) and protophorphyrin IX accumulates
heme production decreaed -- microcytic anemia secondary to lack of Hgb
---
d-Aminolevulinate synthase (rate limiting reaction in HEME BIOSYNTHESIS)
169
Deficiency in uroporphyrinogen I synthase
Acute intermittent porphyria
| Abdominal pain + neuropsychiatric symptoms
170
Deficiency in uroporphyriongen decarboxylase
Most common porphyria: Porphyria cutanea tarda (PCT)
Uroporphyrinogen accumulates in urine; mild photosensitivity
171
Bilirubin glucuronyl transferase
Conjugation of bilirubin
172
Niemann-Pick
deficiency of sphingomyelinase --> sphingomyelin accumulates in phagocytes --> "foamy histiocytes"
loss of previously acquired motor capabilities
cherry-red macular spot (similar to Tay Sachs)
hepatosplenomegaly
173
Tay Sachs
deficiency in hexosaminidase A --> GM2 ganglioside accumulation
174
Hurler syndrome
deficient in alpha-L-iduronidase
| accumulation of heparan sulfate + dermatan sulfate
175
Gaucher disease
deficient in glucocerebrosidase
| accumulation of glucocerebroside in phagocytes
176
Von Gierke disease
deficiency in glucose-6-phosphatase
177
Pompe disease
deficiency in lysosomal alpha-1,4-glucosidase
178
Fabry disease
deficiency in alpha-galactosidase A --> accumulation of ceramide trihexoside
Progression to RENAL failure
Angiokeratomas
Hypohidrosis
Acroparesthesia (burning neuropathic pain in extremities)
179
Lesch-Nyhan syndrome
deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT)
disorder in uric acid metabolism
Spasticity
Choreoathetoid movements (involuntary movement spasms + writhing movements)
SELF MUTILATION
180
Neuroblastoma
located in adrenal medulla
non-rhythmic conjugate eye movements w/ myoclonus
increased N-myc gene copies
retroperitoneal mass
181
Hypothalamic nuclei (functions)
1. Ventromedial - satiety (leptin stimulated)
2. Ventrolateral - hunger
3. Anterior - cooling
4. Posterior - heating
5. Arcuate - dopamine secretion (inhibits prolactin); GHRH and gonadotropin release
6. Paraventricular - ADH and oxytocin releasing, CRH, TRH
7. Supraoptic - secretion of ADH and oxytocin
8. Suprachiasmatic - circadian rhythm, pineal gland function
182
CN IV lesion
internal rotation, depression, abduction
| lesion -- vertical & torsional diplopia, eye deviates upwards
183
CN VI lesion
abduction
| lesion -- horizontal diplopia, eye deviates medially
184
Hydrocephalus in infants
Increased head circumference, enlarged ventricles
Muscle hyperreflexia and hypertonicity due to UMN damage due to stretching of periventricular pyramidal tracts
185
Chronic granulomatous disease (CGD)
X-linked
inability of phagocytes to synthesize NADPH oxidase - can't have lysosomal oxidative burst
pts. suffer recurrent infections from catalase-positive organisms: staphylococci
186
Alzheimer disease
Decreased acetylcholine level (lack of choline acetyltransferase)
areas affected:
basal nucleus of Meynert - memory/cognition
Hippocampus - formation of new memories
187
Locus ceruleus
Panic attacks, panic disorders
| Caudal pontine central gray matter - contain NE
188
Nucleus caudatus (atrophy)
Huntington's
| NMDA receptors depleted in striatum
189
Raphe nuclei
Serotonergic
Anorexia, depression, sleep disorders
190
Global cerebral ischemia
due to cardiac arrest --> cessation of blood flow --> severe hypoperfusion
Ischemia >5mins causes irreversible damage to neurons
Watershed areas of anterior, middle, and posterior cerebral aa.
Bilateral wedge-shaped bands of necrosis over cerebral convexities, lateral to interhemispheric fissure
191
Irreversible injury in neuron
```
"red neuron"
12-24 hours after injurious event
shrinkage of cell body
eosinophilia of cytoplasm
pyknosis of nucleus
loss of Nissl substance
```
192
Syringomyelia
Cyst in spinal cord
- lateral spinothalamic tract (bilateral loss of P&T)
- motor neurons of anterior horns: LMN (flaccid paralysis, atrophy of intrinsic muscles)
193
Lateral corticospinal tract lesion vs. Anterior horn involvement (spinal cord)
Lateral corticospinal tract: UMN lesion
Anterior horn: LMN
ALS (amylotrophic lateral sclerosis) has BOTH!
194
Anterior spinal artery syndrome
Compression/occlusion of artery
COMPLETE loss of strength below level of injury
Loss of pain & temperature
STILL has vibratory senses
195
Increased AFP
Neural tube defects
196
Down's syndrome
```
Decreased AFP
Excessive skin at posterior neck
VSD and duodenal atresia
endocardial cushion defect
TE fistula
Slanted palpebral fissues,
Single transverse palmar crease
Flat facies
```
197
Edwards syndrome vs. Patau syndrome
Edwards - 18- prominent occiput, microagnathia (small jaw), low set ears, small mouth, overlapping fingers-clenched hands, severe mental retardation (usually die by 1yr)
Patau - 13 - ENTIRE HEAD affected (microcephaly - small head!), polydactyly, umbilical hernia, holoprosencephaly (forebrain doesn't divide into 2 hemispheres), cleft lip -- occurs secondary to nondisjunction during meiosis I
198
Common cold
Coronavirus, rhinovirus, adenovirus
199
Achondroplasia
Fibroblast growth factor receptor 3 (FGF-3)
Autosomal dominant
Spontaneous mutations w/ advanced paternal age
Shortened limbs, normal face and normal torso
1/3 chance normal baby from 2 affected parents (2/3 chance baby has symptoms)
200
Aseptic meningitis
Enteroviruses - coxsackievirus, echovirus, poliovirus, enterovirus
201
Bacterial meningitis (adults)
S. pneumoniae, N. meningitidis
Alterations in mental status/seizures
Neutrophilic pleocytosis, LOW glucose, HIGH protein
202
Alcoholic given IV dextrose before thiamine
Wernicke's encephalopathy can occur bc THIAMINE is coenzyme for PYRUVATE DEHYDROGENASE in glucose metabolism
Pt. given glucose with no thiamine --> glucose not metabolized --> necrosis of brain = MAMILLARY BODIES (emotion and memory via Papez circuit)
203
Thalamic syndrome
Vascular lesion --> damage to thalamic VPL and VPM nucleus --> CONTRA sensory loss (lower and upper extremities, face)
Proprioceptive defects --> unsteady gait + falls
204
Caudate nucleus lesion
Transient hemiparesis (weakness on one side of body)
Frontal lobe symptoms (inattentiveness, forgetfulness)
205
Internal capsule lesion
Posterior limb separates globus pallidus and putamen from thalamus
Carries corticospinal MOTOR and somatic SENSORY fibers + visual and auditory fibers
206
Pons lesion
Coma
| Bilateral paralysis
207
Huntington's
CAG trinucleotide repeats
Anticipation (offspring develop diseases earlier)
Autosomal dominant
Atrophy of caudate nucleus
208
Parinaud syndrome
Tumor of pineal gland
GERMINOMAS most common tumor of pineal gland
Children/adolescents - mostly MALEs
1. precocious puberty (B-hCG production)
2. Obstructive hydrocephalus (due to tumor compressing aqueduct)
3. Parinaud syndrome: PARALYSIS of upward gaze and convergence
209
Pontine hemorrhage/tumor
locked in syndrome = spastic quadriplegia and paralysis of most cranial nerves
210
Lesions of medulla
1. Lateral medullary syndrome:
Wallenberg:
- CONTRA loss of pain & temp
- IPSI paralysis of CNV, IX, X, XI
2. Medial medullary syndrome:
- CONTRA spastic paralysis
- IPSI flaccid paralysis of tongue (CN XII)
211
Organophosphate poisoning
Inhibits cholinesterase in both muscarinic and nicotinic receptors
EXCESSIVE CHOLINERGIC STIMULATION!
```
"DUMBELS" - muscarinic effects
diarrhea, diaphoresis
urination
miosis
bronchospasm
emesis
lacrimation
salivation
```
nicotinic effect - muscle fasciulations --> muscle PARALYSIS
ATROPINE reverse muscarinic symptoms - pts. still at risk of muscle paralysis
Pralidoxime - reverses BOTH muscarinic and nicotinic receptors
212
Von Hippel-Lindau
capillary hemangioblastomas in retina/cerebellum
congenital cysts in kidney, liver, pancreas
increased risk of renal cell carcinoma
213
NF1
PERIPHERAL nervous system
neurofibromas
optic nerve gliomas
Lisch nodules (pigmented nodules of iris)
café au lait spots (hyperpigmented cutaneous macules)
214
NF2
bilateral cranial nerve VIII schwannomas
| multiple meningiomas
215
Sturge-Weber syndrome
cutaneous facial angiomas, leptomeningeal angiomas
neurocutaneous disease
ophthalmic (V1) and maxillary (V2) distributions of trigeminal nerve
"tram track" calcifications on skull**
216
Tuberous Sclerosis
Kidney, liver, pancreatic cysts
cortical and subependymal hamartomas
```
cutaneous angiofibromas (adenoma sebaceum)
renal angiomyolipomas & cariac rhabdomyomas
```
217
Osler-Weber-Rendu syndrome
hereditary hemorrhagic telangiectasia
rupture of telangiectasias - epistaxis, GI bleeding, hematuria
218
Maple syrup disease: defective breakdown of which branched chain aa
Leucine
Isoleucine
Valine
Accumulation of leucine = neurotoxic
219
Maple syrup urine disease
Lack branched chain a-ketoacid dehydrogenase: requires several cofactors: "Tender Loving Care For Noone!"
Thiamine pyrophosphate
Lipoate
Coenzyme A
FAD
NAD
Some patients improve on high dose THIAMINE therapy
pyruvate dehydrogenase and a-ketoglutarate dehydrogenase also require same 5 cofactors
220
Krabbe disease
lack of galactocerebrosidase (no galactocerebroside for myelin)
muscle tone abnormality in infants, developmental delay/regression
221
Pyridoxine (vitamin B6)
Treats sideroblastic anemia & hyperhomocysteinemia
222
VIPoma
intractable diarrhea
metabolic ACIDOSIS
HYPOkalemia
HYPOtensive (dehydration and vasodilatory effects of VIP)
223
VPL
```
Spinothalamic tract (pain + temperature)
Medial lemniscus (position + proprioception)
```
Transmit to primary somatosensory cortex
224
VPM
Trigeminal + gustatory
Transmit to primary sensory cortex
225
Lateral geniculate
Vision
Optic radiations
Visual cortex (calcarine sulcus)
226
Medial geniculate
Auditory
Superior olivary nucleus, inferior colliculus (pons)
Temporal lobe
227
Tuberous sclerosis
```
a. dominant
Cortical tubers
Subependymal hamartomas (brain) --> seziures/retardation
```
- bilateral renal angiomyolipoma (blood vessels, smooth muscle, fat)
- Cardiac rhabdomyomas
- Facial angiofibromas
- Leaf-shaped patches (ash leaf patches)
228
NF1 vs NF2
NF1: a. dominant
optic gliomas
Lisch nodules (pigmented nodules of IRIS)
café-au-lait spots
NF2: a. dominant
bilateral acoustic neuromas
meningiomas, gliomas, ependymomas of spinal cord
229
Von Hippel-Lindau
cerebellar hemangioblastomas
retinal hemangiomas
liver cysts
risk of RENAL CELL carcinoma
230
Sturge-Weber syndrome
Facial port-wine stain
| Leptomengineal capillary-venous malformation
231
Osler-Weber-Rendu syndrome
Hereditary hemorrhagic telangiectasia - telangictasias of skin + mucosa
```
recurrent epistaxis
GI bleeding (melena)
```
232
Membranoprofliferative glomerulonephritis (MPGN)
Basement membrane splitting
Similar to Alport syndrome:
deafness, ocular manifestations
233
Focal segmental glomerulosclerosis (FSGS)
IgM* and C3 deposits
234
Goodpasture's syndrome
Anti-GBM antibodies react to alpha3-chain of collagen IV
Pulmonary hemorrhages --> hemoptysis (due to damage of alveoli BM)
RPGN
IgG and C3
Crescent formation
RBC casts
235
Post-streptococcal glomerulonephritis (PSGN)
```
RBC casts, oliguria
hypercellular glomeruli - "starry sky"
"humps and bumps"
anti-streptolysin O
low C3
periorbital edema, HTN
```
236
Wegener's
Anti-neutrophil cytoplasmic antibodies (c-ANCA)
"necrotizing granulomatous vasculitis"
granulomatosis + polyangiitis
triad:
1) pulmonary symptoms (cough/hemoptysis -- focal necrotizing granulomas in lungs)
2) upper respiratory tract (chronic sinusitis, mucosal ulceration of nasopharynx)
3) renal disease -- RPGN (crescentic)
237
Kimmelstiel-Wilson disease
Nodular glomerulosclerosis
```
Diabetic nephropathy - ESRD
Glomerular hyperfiltration --> increase mesangial matrix/thickening of GBM
K-W nodules
diffuse glomerulosclerosis
hyaline arteriosclerosis
```
use ACE inhibitors, ARBs - prevent progression of diabetic nephropathy
238
Presence of petechiae (bleeding disorder)
Platelet dysfunction
239
CML vs leukemoid reaction
WBC count increase (leukocytosis >50,000)
left shift - immature forms of cells - bands, metamyelocytes, myelocytes, VERY LITTLE -blast cells
differentiate btwn CML and leukemoid reaction:
alkaline phosphatase ELEVATED = leukemoid
alk phosp decrease = CML
240
Sickle cell anemia patient (infections)
Septicemia (Strep pneumoniae or H. influenza) due to asplenia (more prone to encapsulated organisms)
Osteomyelitis (Salmonella; also S. aureus & E. coli)
241
Obligate intracellular bacteria
Rickettsia
Legionella
Chlamydia
242
Stains:
1. Giemsa
2. PAS
3. Ziehl-Neelsen
4. India ink
5. Silver stain
1. Giemsa - Chlamydia, Borrelia, Rickettsiae, Trypanosomes, Plasmodium
2. PAS - Whipple's disease
3. Ziehl-Neelsen - Acid fast organisms (Mycobacterium)
4. Indian ink - Cryptococcus neoformans
5. Silver stain - Fungi (Pneumocystis), Legionella, H. pylori
243
Obligate anaerobes
1. Clostridium
2. Bacteroides
3. Actinomyces
Aminoglycosides have no effect on anaerobes.
244
Encapsulated bacteria
"SHiNE SKiS"
```
Strep pneumo
H. influenzae type b
Neisseria
E. coli
Salmonella
Klebsiella
group B Strep
```
Asplenic patients should be vaccinated!
Strep pneumo, H. influenzae, Neisseria.
245
Catalase-positive bacteria
"CAtaLaSES!"
```
Listeria
Aspergillus
Candida
E. coli
S. aureus
Serratia
```
246
Culture for H. influenzae
```
Chocolate agar
Factor V (NAD+) and Factor X (hematin)
```
247
Culture for Neisseria
VPN media
Vancomycin (Gram +)
Polymixin (Gram -)
Nystatin (fungi)
248
Culture for lactose fermenting enterics
Pink colonies on MacConkey's agar
| E. coli also on EMB agar (green metallic sheen)
249
Culture for Legionella
Charcoal yeast extract agar
250
Pigment-producing bacteria:
1. Actinomyces israelii
2. S. aureus
3. Pseudomonas aeruginosa
4. Serratia marcescens
1. Actinomyces - yelllow "sulfur" granules
2. S. aureus - yellow
3. Pseudomonas - blue-green
4. Serratia - red
251
Protein A
Binds Fc region of Ig
Prevents opsonization & phagocytosis
S. aureus
252
IgA protease
Cleaves IgA in order for organism to colonize respiratory mucosa
"SHiN"
S. pneumoniae
H. influenza
Neisseria
253
M protein
Prevents phagocytosis
group A Strep
Rheumatic fever
254
Mesolimbic-mesocortical pathway
Regulates behavior
| Schizophrenia
255
Nigrostriatal pathway
Coordination of voluntary movements
| Parkinsonism
256
Tuberoinfundibular pathway
Controls prolactin secretion
| Hyperprolactinemia
257
Excessive aldosterone
Na+ retention
HTN
Hypokalemia
Metabolic alkalosis
258
Aldosterone escape
High aldosterone causes increased renal Na+ and H2O absorption --> increase renal blood flow and GFR --> increase rate of sodium excretion from renal tubules
259
Tumor lysis syndrome
Develops during chemo for cancers w/ rapid cell turnover (poorly differentiated lymphomas and leukemias)
Hyperphosphatemia, Hyperkalemia, Hyperuricemia, HYPOcalcemia
260
Sarcoidosis
African American
bilateral hilar adenopathy
non-caseating granulomas
261
Squamous cell lung carcinoma vs. lung adenocarcinoma
Squamous cell: keratin-containing malignant cells; SMOKER
Adenocarcinoma: glandular differentiation w/ atypia; NON-SMOKER
262
Hodgkin's lymphoma (common subtype)
Nodular sclerosis subtype
Nodular growth pattern, surrounding fibrous bands, lacunar variant REED-STERNBERG cells
263
Carcinoid syndrome
RIGHT sided endocardial fibrosis --> pulmonic stenosis/restrictive cardiomyopathy
Skin flushing, abdominal cramping, naseau/vomiting/diarrhea -- due to serotonin, kallikrein, bradykinin, histamine, prostaglandins, and/or tachykinins
Test serotonin levels in plasma
Urinary levels of 5-hydroxyindoleacetic acid (serotonin metabolite)
264
Vanillylmandelic acid
EPI and NE metabolite
265
Elevated levels of homocysteine
Arterial and venous thrombosis
| Development of atherosclerosis
266
Elevated phenylalanine
phenylalanine hydroxylase deficiency --> CNS damage/mental retardation
PKU
267
Acute pyelonephritis (bacterial)
```
E. coli
Klebsiella
Proteus
Enterococci
**all are Gram - rods
```
Due to vesicoureteral junction issue - urine backflow!
268
Describe descending path of voluntary muscles
1st order neurons = premotor & motor cortex (frontal lobe - Brodmann's areas 4 & 6)
Neurons travel through internal capsule --> midbrain --> pons --> PYRAMIDS (medulla)
Fibers decussate @ medulla --> LATERAL CORTICOSPINAL TRACT
(fibers that don't decussate descend --> ANTERIOR corticospinal tract)
2nd order neurons = anterior horn (fibers synapse)
```
UMN = lesions above anterior horn
LMN = lesions below anterior horn
```
269
UMN symptoms and disease
```
muscle weakness
increased tone (spasticity)
clasp-knife rigidity
positive Babinski
hyperreflexia, clonus
```
270
LMN symptoms and disease
flaccid paralysis
areflexia
atrophy
fasiculations
Poliomyelitis, Werdnig-Hoffman
271
Tetralogy of Fallot (maneuver to improve cyanosis and dyspnea)
Squatting --> increase systemic vascular resistance
Increase pressure in systemic circulation allows less RIGHT --> LEFT shunting to occur --> more blood in pulmonary circulation to get oxygenated
272
Vascular defect associated w/ berry aneurysms of Circle of Willis
Coarctation of aorta (due to HTN in branches) leads to:
1) subarachnoid hemorrhage
2) ruptured dissecting aortic aneurysm
3) LV failure
Seen in young adults that die suddenly due to brain hemorrhage
273
Syringomyelia
upper extremity LMN lesion + loss of P&T
lower extremity UMN lesion
kyphoscoliosis
274
Superior vena cava syndrome (SVC syndrome)
Small cell lung carcinoma
facial & upper extremity edema
dilated veins of upper torso
275
Excessive use of ASA
upper GI bleed (loss of gastric cytoprotection)
| impaired platelet aggregation
276
Dermatomyositis
Inflammatory myopathy + cutaneous involvement
Proximal muscle weakness (difficulty climbing stairs, rising from sitting position, combing hair)
+
Gottron papules (flat-topped papules over bony prominences) + heliotrope rash
anti-Jo1 antibodies (specific)
ANA (nonspecific)
elevated CK levels
277
Macular degeneration
| dry MD vs wet MD
Age related (can progress to blindness)
Deposition of fatty tissue (drusen) behind retina (dry MD)
Neovascularization of retina (wet MD)
278
Patients w/ COPD has chronic hypercapnia (too much CO2 in blood); why should supplemental oxygen be given with caution?
PaO2 is the only respiratory drive stimulator
Too much supplemental oxygen too rapidly --> respiration is inhibited (body thinks there's already too much O2)
Patients don't respond to PaCO2 anymore (b/c there's constant excess of CO2)
279
Male patients suffering from liver cirrhosis - why is there also gynecomastia?
Hyperestrinism due to:
decreased catabolism of estrogen
+
increased sex hormone-binding globulin (binds testosterone, decrease free testosterone:estrogen ratio)
imbalance -->
gynecomastia, testicular atrophy
decreased body hair
spider angiomata (dilation of superficial capillaries)
280
Anti-centromere antibodies present
CREST syndrome
Calcinosis - subcutaneous Ca2+ deposits
Raynaud's
Esophageal dysmotility - fibrosis of distal esophagus
Sclerodactyly - thickening of skin of hands/feet
Telangiectasias
281
Anti-DNA topoisomerase (Scl-70)
Diffuse scleroderma
Progressive systemic sclerosis --> chronic restrictive interstitial fibrosis
282
Anti-dsDNA
Malar "butterfly" rash
283
Anti-histone antibodies (4)
Drug-induced Lupus
Hydralazine
Procainamide
D-penicillamine
Isoniazid
284
Anti-Ro/SSA
| Anti-La/SSB
Sjogren syndrome
keratoconjuctivitis (dry eyes)
xerostomia (dry mouth)
associated w/ increased risk of non-Hodgkin lymphomas
285
Anti-phospholipid antibodies
Antiphospholipid antibody (also SLE)
| Antiphospholipid antibody syndrome:
Hypercoagulable state
Recurrent miscarriages
paradoxical increase in PTT
286
Carpal tunnel syndrome (associated diseases that can cause syndrome)
Compression of median nerve
Pain & paresthesias (pins and needles)
Weakness of thumb abduction and thenar atrophy
Tinel's sign, Phalen's sign (tap on flexor surface of wrist)
```
Associated w/
hypothyroidism (fluid retention)
diabetes mellitus
rheumatoid arthritis
dialysis-associated amyloidosis (deposition of B2-microglobulin)
```
287
Overstimulation of a2-adrenergic receptors
Increase release of NE & insulin
288
Overstimulation of b2-adrenergic receptors
Bronchodilation, vasodilation
| Uterine relaxation
289
Derivatives of pharyngeal arch 1
Trigeminal (CNV)
290
Derivatives of pharyngeal arch 2
Facial (CNVII)
291
Derivatives of pharyngeal arch 3
Glossopharyngeal (CNIX)
Common carotid a.
Internal carotid a.
292
Derivatives of pharyngeal arch 4
Superior laryngeal - Vagus (CNX)
| Subclavian aa
293
Derivatives of pharyngeal arch 6
Recurrent laryngeal - Vagus (CNX)
Pulmonary aa.
Ductus arteriosus
294
Excessive secretion of Somatomedin C
somatomedin C = insulin-like growth factor-1 (IGF-1)
directly inceased when GH secreted
Results in gigantism in child
unlike excessive estrogen which can cause premature closure of epiphyseal plates in child
295
Centriacinar emphysema
Upper lung predominant
Associated w/ smoking
Macrophages and neutrophils
296
Panacinar emphysema
Lower lung lobes
| a1-antitrypsin deficiency --> excess neutrophil elastase inside alveoli
297
Compensatory hyperinflation vs obstructive hyperinflation
Compensatory hyperinflation - compensation for collapsed lobes or surgically removed
Obstructive hyperinflation - fixed or ball valve obstruction (mucus plug, bronchogenic carcinoma) of bronchiles/bronchus
298
Patient w/ UC history presents w/ fever, diarrhea, signs of shock (decrease BP, increase HR); possibe complication?
Toxic megacolon - cessation of neuromuscular activity --> rapid colon distention --> rupture likely (life threatening perforation)
Diagnosis w/ plain abdominal X-ray
Barium constrast studies & colonoscopy contraindicated (could potentiate rupture)
299
Lung cancer associated w/ women & nonsmokers
Adenocarcinoma
300
Lung cancer associated w/ smoking
Small cell carcinoma (central) - associated w/ Cushing syndrome, siADH, Lambert-Eaton syndrome (other neuroendocrine diseases)
Squamous cell carcinoma (necrosis & cavitation, central) - associated w/ hypercalcemia
301
Muscles responsible for abduction at hip
Gluteus medius
| Gluteus minimus
302
Muscles responsible for adduction at hip
Adductor brevis, longus, magnus
303
Muscles reponsible for flexion at hip
Iliopsoas
Sartorius
Rectus femoris
Tensor fascia lata
304
Muscles reposible for extension at hip
Gluteus maximus
Semitendinous
Semimembranous
Biceps femoris (long head)
305
Muscles important for sitting up from supine position (without hands)
```
External abdominal obliques
Rectus abdominis
Hip flexors (iliopsoas = psoas major, minor & iliacus)
```
306
Cystic hydroma - what is it, what associated disease?
cystic hydroma = neck mass (tumor) apparent at birth in Turner's syndrome
45XO
Streak ovaries (primary amenorrhea)
Coarctation of aorta
lymphedema (swelling of hands and feet)
307
Primary amenorrhea; high arched palate, inverted, widely spaced nipples
Turner syndrome
308
Primary amenorrhea & hirsutism
Polycystic ovarian syndrome
309
Cri du chat (5p-) syndrome features
round face
cat-like cry
microcephaly
310
Congenital adrenal hyperplasia - most common cause
```
21-hydroxylase deficiency
Salt wasting
Ambiguous genitalia (females only)
```
311
Testicular feminization syndrome
Androgen insensitivity syndrome
Defect in testosterone receptors
46XY karyotype - appears FEMALE
Blind-ended vaginal pouch
Absence of uterus
312
Ductus arteriosus
Shunts oxygenated blood from pulmonary artery --> descending aorta (to rest of systemic circulation) -- bypasses lungs (since lungs aren't mature)
313
Adult remnant of ductus arteriosus
ligamentum arteriosum
314
Path of oxygentated blood from placenta to fetus
Umbilical vein --> liver --> ductus venosus (bypass hepatic circulation) --> IVC --> right heart --> could go to lungs or go through foramen ovale --> left heart --> systemic circulation
315
Adult remnant of umbilical vein
ligamentum teres
316
Origination of umbilical arteries
Fetal internal iliac aa. (carry deoxygenated blood back to placenta)
317
Allows blood from placenta to bypass hepatic circulation to get to fetal heart
```
Ductus venosus (in liver)
Blood from umbilical veins go directly to IVC (most O2 content available)
```
318
Red pulp vs. White pulp in spleen
Red - filters/destroys old RBCs
White - splenic macrophages present antigens to B and T cells
Spleen - site of extramedullary hematopoiesis
Antibody synthesis
319
Why are asplenic patients more susceptible to encapsulated organisms?
Splenic opsonizing antibody --> clearance of encapsulated species (S. pneumoniae, H. influenzae, N. meningitidis)
320
Young female w/ venous thrombosis; PTT time unchanged despite activated protein C administration; why?
Factor V Leiden mutation
Factor Va remains activated --> hypercoagulable state --> abnormal venous thromboses (in young patient w/ no risk factors)
321
Antiphospholipid antibody syndome
Hypercoagulability
Lupus anticoagulant and/or anticardiolipin antibodies
prolonged aPTT -- Lupus anticoagulant most prevalent
322
Folic acid deficiency (heme related effect)
Hyperhomocysteinemia --> prothrombotic state
323
Strongest risk factor for cervical intraepithelial neoplasia (CIN)
Multiple sex partners; first intercourse at young age, prostitution
all increase risk of HPV 16 & 18 --> severe cervical dysplasia or carcinoma in situ
324
Hospitalized patient with recent surgery develops tachypnea, tachycardia, cought, chest pain; cause?
Pulmonary embolism -- pulmonary obstruction increase pulmonary resistance --> increases right ventricular afterload (can't pump out as much to lungs because of increased pressure in lungs) --> right heart failure
Ventilation/perfusion mismatch = appropriate air going into alveoli but obstruction results in less blood supply to all areas of lung --> insufficient gas exchange
325
Diffusion impairment - hypoxemia; what patients suffer this?
Pulmonary fibrosis
| Hyaline membrane disease
326
A-a gradient in hypoventilation
A-a gradient normal because both arterial and alveolar PO2 are low
327
Pure RBC aplasia (in setting of normal granulopoiesis & thrombopoiesis)
Marrow falure associated with:
thymoma
lymphocytic leukemias
parvovirus B19 infection
328
Acute intermittent porphyria
Acute abdominal pain
Peripheral neuropathy
Hyponatremia
329
Macula densa (location)
junction of ascending loop and distal tubule (regulates GFR)
330
Conjunctival pallor in fatigued female
Anemia
331
Level of transferrin in iron deficiency anemia
Liver makes more transferrin (to increase efficiency at "grabbing" any Fe available)
TIBC increase (bc more transferrin is made) - body tries to increase likelihood of attaining as much Fe as possible in Fe depleted conditions (anemia)
332
Hypersegmened neutrophils + elevated MCV; what deficiencies?
Folic acid or vitamin B12
333
Delayed afterdepolarizations; causes & complications?
High intracellular Ca2+ or high EPI/NE --> hyperexcitability --> delayed afterdepolarizations
could lead to ventricular tachycardia --> death
334
Effect of decreased action potential duration
decreased action potential duration --> decreased refractory period --> cell depolarizes more frequently --> a. fib
335
Acute nausea from systemic chemotherapy - what are of brain is responsible?
Stimulation of chemoreceptor trigger zone in area postrema (dorsal medulla near 4th ventricle)
336
What important CN and tracts run through the ventral pons?
CN V-VIII
corticospinal tract
medial lemniscus
lateral spinothalamic tract
337
Inflamatory retinitis in HIV patient w/ CD4+ <50cells/uL; cause and Rx?
CMV
Treat w/ ganciclovir (targets CMV DNA polymerase) to prevent retinal detachment
338
Platelets aggregate normally in response to ADP, poorly with addition to ristocetin; deficiency?
vWF deficiency
decrease platelet adhesion (since vWF binds gpIb on platelet --> helps attach platelet to subendothelial collagen)
vWF carries factor VIII (impairs an important factor in coagulation pathway)
Results in:
prolonged PTT (coagulation pathway defect)
Increased bleeding time (platelet)
339
Treatment of vWF deficiency
Desmopressin (DDAVP) --> stimulates vWF release from endothelium
340
Glanzmann thrombasthenia
deficiency of gpIIb/IIIa --> increased mucocutaneous bleeding
platelet aggregation decreased w/ addition of ADP
341
Deficiency of thromboxane A2 - possible cause?
ASA treatment - irreversible inactivation of COX in platelets
342
Congenital deficiency of XII (Hageman); symptoms?
Asymptomatic
Incidental finding bc it causes PTT prolongation
343
Hyperammonemia effects on brain
Hepatic encephalopathy
depletion of a-ketoglutarate --> inhibition of Krebs cycle
lack of glutaMATE = impaired excitatory neurotransmission
excessive ammonia --> depletes glutaMATE (excitatory neurotransmitter) converted by glutamine synthetase to glutaMINE--> accumulation of glutamine--> astrocyte swelling & dysfunction
344
Impaired beta-oxidation of fatty acids to acetyl-coA; possible lifestyle?
high alcohol consumption
CARNITINE responsible for transport of FA into mitochondria for beta-oxidation
345
Lactate level in patient w/ liver cirrhosis?
Elevated lactate (esp. in situations w/ elevated production -- sepsis, tissue hypoperfusion)
decreases hepatic lactate disposal --> accumulation of lactate
346
Idiopathic pulmonary fibrosis causes
Environmental exposure
Sarcoidosis
Collagen vascular diseases
Idiopathic
progressive disease, may require lung transplatition
347
IPF features
Intersitial fibrosis causes alveoli walls to collapse --> cystic spaces lined by type II pneumocytes
```
Bronchiolar epithelium (honeycomb fibrosis)
Insidious-onset progressive exterional dyspnea, restrictive pulmonary symptoms, cystic airspace enlargement (honeycomb lung)
```
348
Churg-Strauss (pulmonary symptoms)
severe asthma, obstructive features
necrotizing vasculitis
granulomas & infiltration of vessels/perivascular tissue by eosinophils
349
Goodpasture's syndome (pulmonary symptoms)
Focal necrosis in alveolar walls & intra0alveolar hemorrhages --> hemoptysis
350
Characteristics of TOF (4)
Pulmonic stenosis
VSD
RVH
Overriding aorta (straddling VSD)
351
Why is there varying severities of hypoxemia in patients w/ TOF?
Pulmonic stenosis increases pressure in RV so that it is sometimes equal to LV pressure
Degree of pulmonic stenosis determine whether blood is shunted from L-->R or R--> L
when blood is shunted L-->R, there's no cyanosis
