Term
- clubfeet & dislocated hip
- distinct facies w/ nasal, ocular, ear, & jaw deformities (flattened face)
- Pulmonary hypoplasia |
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Definition
Potters syndrome (potters sequence)
caused by renal agenesis. Similar "potter's sequence" can be seen with other causes of oligohydramnios (GU obstruction, amniotic leakage, ARPKD, placental insufficiency) |
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Term
| which population has a contraindication for ACEi/ARB treatment? |
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Definition
renal artery stenosis (will precipitate acute renal failure)
ASIDE: ACEi are also contraindicated in people w/ previous angioedema |
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Term
| Immigrant mother gives birth to an infant, who's umbilical cord is cut using unsterile techinques. 1 week later, infant develops rigidity & spasms. What happened? |
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Definition
Tetanus infection
Maternal immunization w/ tetanus toxoid would have produced IgG --> cross placenta --> protected infant |
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Term
| nerve courses across the lateral edge of the fibula. Damaged by compression & fracture of fibula. What nerve? what is the manifestation? |
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Definition
common fibular (peroneal)
- Foot drop & sensation btw 1st & 2nd toe (deep fibular)
- loss of sensation on lateral aspect of leg & inability to evert foot (superficial tibial)
Origin: branch of the sciatic N & originates @ the superior aspect of the popliteal fossa. It then traces the lateral aspect of the fossa, crosses the head of the fibula, & comes into direct contact with the lateral neck of the fibula as it enters the leg |
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Term
| blood supply to proximal 1/3 of ureter comes from? |
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Definition
renal artery
(the question didn't say this, but this probably has some contribution to why the kidney is transplanted into the pelvis) |
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Term
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Definition
a = atrial contraction
c = ventricular contraction (tricuspid valve bulges into atria)
v = filling before opening of tricuspid |
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Term
| chlorpropamide, tolbutamide, glipizide, glyburide, glimepiride |
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Definition
OSU (first 2 are 1st gen --> disulfuram)
chlorpropamide can also cause SIADH
All of them cause weight gain! |
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Term
| very long chain fatty acids & phytanic acid undergo breakdown in this structure |
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Definition
peroxisomes
peroxisomes degrade VLCFA & odd-numbered FA or FA w/ branch points @ odd number chains (phytanic acid)
VLCFA undergo modified beta-oxidation; odd-numbered FA undergo alpha-oxidation
alpha oxidation creates formyl-CoA --> formate --> NADH + CO2 (formate dehydrogenase) |
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Term
| Angiokeratoma, peripheral neuropathy, accumulation of ceramide trihexose, deficiency in alpha galactosidase, X-linked |
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Definition
Fabry's disease
will die of cardiac or renal failure |
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Term
| 2 diseases w/ cherry red spot. One has splenomegaly, one doesn't |
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Definition
- Neimann pick (splenomegaly, sphingomyelin accumulation, spingomyelinase deficiency)
- Tay sacks (no splenomegaly, GM2 accumulation, hexosamidase deficiency)
hexosamidase A def is usually due to framshift mutation (insertion of 4 nucleotides) |
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Term
| hepatosplenomegaly, aseptic necrosis of femur, bone crisis, crumpled tissue paper morphology inside mononuclear phagocytes, no brain involvement in 99% of cases, |
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Definition
- Gaucher's disease (accumulation of glucocerebroside; lack of beta-glucocerebrosidase)
the other 1% have total loss of glucocerebrosidase activity --> neurological manifestations |
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Term
| what do you die of with an eichinococcus cyst rupture? |
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Definition
anaphylaxis
the larva implant in the capillaries, triggering monocyte/eosinophil inflammation --> creation of cyst with "eggshell calcification" |
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Term
| name 3 types of rapidly progressive glomerulonephritis? |
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Definition
Type I: antibody mediated (e.g. goodpastures)
Type II: Immune complex (e.g. poststrep, lupus, henoch-shonlein, idiopathic, other)
Type III: pauci-immune (e.g. wegners, microscopic polyangiitis, ANCA-associated, idiopathic)
ASIDE: microscopic polyangiitis is p-ANCA positive & glomerular involvement; polyarteritis nodosa is ANCA-negative, associated w/ HepB, & has no glomerular involvement (but frequently causes renal failure from involvement of renal arteries) |
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Term
| what band doesn't shrink during contraction? |
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Definition
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Term
This dimorphic fungus has a doubly refractive wall on KOH prep & can cause a granulomatous pulmonary disease in an immunocompentent host.
In immunocompromised, it may become systemic: fever, pulmonary Sx, skin, & bone involvement) |
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Definition
| Blastomycosis (also BROAD-BASED-BUDS & in Great-Lakes/Mississippi/Ohio river basins) |
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Term
Name disease that has all these components:
1) progressive ataxia of all four limbs caused by cerebellar dysfunction seen at a young age. Degeneration of posterior columns
2) Hypertrophic cardiomyopathy leading to arrhythmias & CHF (& death)
3) Skeletal abnormalities: kyphoscoliosis, pes cavus, hammertoes
4) Diabetes mellitus |
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Definition
| Friedrich's ataxia. AR condition caused by GAA repeat expansion on chromosome 9 |
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Term
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Definition
High dose glucocorticoids --> decrease inflammation
graves ophthalmopathy is caused by lymphocytic infiltrate & ground substance deposition into extraocular muscles & surrounding connective tissue. Typical antithyroid drugs DO NOT IMPROVE THE OPHTHALMOPATHY |
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Term
Effect on insulin of:
- Alpha2 receptors
- Beta2 receptors |
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Definition
- alpha2 = decrease insulin secretion (Gi)
- Beta2: increase insulin secretion (Gs) |
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Term
| treatment for acute dystonia (develops w/in 4 days of starting antipsychotic meds: muscle spasms, stiffness, tongue protrusios/twisting, opisthotonus, oculogyric crisis) |
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Definition
| anticholinergics (benztropine, trihexyphenidyl) (diphenhydramine, a antihistamine w/ strong anticholinergic properties) |
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Term
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Definition
selective Beta1 agonist
(ASIDE: beta1 receptors will increase conduction velocity as well as HR & contractility)
(P.P.S. furosemide will "improve left ventricular function", maybe through decreased afterload due to PGL release) |
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Term
| type of hydrocephalus seen in aids demetia? |
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Definition
hydrocephalus ex vacuo (i.e. normal pressure hydrocephalus due to loss of brain matter)
also seen in huntington's & other forms of dementia |
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Term
| what causes hypoglycemia in an infant born to a mother w/ diabetes? |
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Definition
| islet cell hyperplasia in utero --> too much endogenous insulin production --> hypoglycemia |
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Term
| sickle cell pt comes in w/ new pulmonary infiltrate & excrutiating chest pain |
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Definition
acute chest syndrome. Usually follows a lung infection in sickle-cell pts. this is one of the most common causes of death in HbS pts
it is really bad, because it is a positively-reinforcing process. one theory states that sickling in hypoxic lung tissue causes RBCs to clog bone microvasculature --> fat emboli --> further damage lung --> further cause sickling |
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Term
| what part of the brain demostrates the greatest atrophy in alzheimers |
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Definition
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Term
| E6 binds _____. E7 binds _____. |
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Definition
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Term
| endothelial injury, venous stasis, & hypercoagulable state |
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Definition
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Term
| accentuated P2, pitting edema in a person w/ CREST syndrome or scleroderma |
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Definition
| pulmonary HTN; common in pts w/ scleroderma from damage to pulmonary arterioles |
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Term
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Definition
| naked, single-stranded DNA virus |
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Term
| DI caused by damage to posterior pituitary vs hypothalamic nuclei/pituitary stalk is differentiated via: |
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Definition
| damage to posterior pituitary usually results in just transient DI |
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Term
| Best drug for treating HTN & osteoporosis |
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Definition
thiazide
remember that thiazides are also ATP-dependent K+ channel openers --> decrease TPR & are diabetogenic |
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Term
Acute ingestion of toxic amounts of this vitamin gives you:
-vomiting
-vertigo
-blurred vision |
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Definition
vitamin A
Chronic toxicity: alopecia, dry skin, hyperlipidemia, hepatotoxicity, hepatosplenomegaly, visual difficulties, & intracerebral edema (causing papilledema)
Teratogen effects: cardiac anomalies & fetal death |
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Term
| Single nucleotide defects are repaired how? |
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Definition
single nucleotide defects are usually due to consumed nitrates causing deamination.
Base excision repair (not to be confused w/ nucleotide excision repair) removes the single base defect & replaces it:
1) glycosylase cleaves altered base
2) endonuclease & lyase cut 5' & 3' end respectively
3) DNA pol & ligase fill in gap
ASIDE: nucleoside excision repair consists of cutting out a large segment of DNA & replacing it (carried out by the many XP genes) |
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Term
recurrent otitis media suggests a defect in what branch of immune system?
PCP infection suggests defect in what branch of immune system? |
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Definition
Humoral (agammaglobulinemia)
Cell mediated (T-cell def): alveolar Mø phagocytose PCP & need Th1 cells for effective killing
if a kid has both of these, think hyper IgM or SCID |
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Term
| hungry, fat, aggressive cat |
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Definition
| ventromedial hypothalamic lesion |
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Term
| frothy urine is a sign of |
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Definition
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Term
| deficiency in uroporphorynogen decarboxylase |
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Definition
porphyria cutanea tarda
ASIDE: photosensitivity seen w/ porphyrias due to late-stage metabolic defects (e.g. URO decarboxylase); neurologic manifestations seen in early defects (e.g. Pb poisoning, porphobilinogen deaminase) |
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Term
| BCR-ABL seen most commonly in |
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Definition
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Term
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Definition
| burkitt's lymphoma: c-myc translocated on heavy chain |
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Term
Group A strep sequelae:
- Impetigo
- Pharyngitis |
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Definition
can only get poststreptococcal glomerulonephritis from GAS impetigo
can get poststrep glomerulonephritis & scarlet fever w/ GAS pharyngitis |
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Term
| aminoglycosides attach to which ribosome unit? |
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Definition
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Term
| disruption of color perception, anorexia, nausea, vomiting, headache, fatigue, confusion, and diarrhea in person treated for CHF |
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Definition
Digoxin poisoning
may lead to lethal arrhythmias |
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Term
Name toxin:
- colicky abdominal pain, w/ constipation, headaches, impaired concentration & deficits in short-term memory
- Bluish pigmentation at the gum-tooth line
- wrist drop &/or foot drop from peripheral neuropathy
- microcytic hypochromic anemia & basophilic stippling on peripheral smear |
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Definition
Lead poisoning
the blue pigment is called a "lead line" |
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Term
| where is the most common site for an anal fissure? |
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Definition
| posterior midline distal to the dentate line |
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Term
use of D-xylose absorption test?
use of hydrogen breath test |
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Definition
1) used to test for malabsorptive states (e.g. celiac)
2) used to test for malabsorption (give specific carbohydrate & check hydrogen/methane production when it gets to the large bowel) or small bowel overgrowth (lactulose --> increase soon after ingestion (<2hrs) = bacterial overgrowth in small bowel) |
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Term
| stool pH in a lactase deficient person who consumes lactose |
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Definition
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Term
| familial hypertriglyceridemia predisposes to atherosclerosis? |
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Definition
NO! but it does increase the risk for acute pancreatitis
This is caused by deficiency in the LPL receptor (autosomal DOMINANT);
another cause is excess hepatic produciton of VLDL |
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Term
The following are signs of reversible or irreversible injury:
- dissaggregation of granular & fibrillar elements of nucleus
- triglyceride droplet accumulation |
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Definition
both are signs of reversible injury
ASIDE: mitochondrial vacuolization is a sign of irreversible injury |
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Term
| Most chemical carcinogens are not carcinogenic when they enter the body. How do they gain their toxicity? |
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Definition
CYP450 metabolism (microsome) metabolism
people who have increase activity of the microsomal system are at increased risk for carcinogenicity of these substances |
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Term
| are there epidermal changes in urticaria? |
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Definition
| no. Only dermal edema is seen |
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Term
1) defective repair in lynch syndrome?
2) Gardner?
3) Turcot?
4) Gorlin? |
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Definition
1) DNA mismatch repair (HNPCC): the genes include, but are not limited to: MSH2, MLH1; These individuals are at risk for right-sided colon cancer as well as other cancers
2) APC: osteomas of mandible & other bones, epidermal cysts, desmoid tumors, thyroid tumors, & dental abnormalities (unerupted & supernumary teeth)
3) APC + brain adenomas & tumors
4) basal cell nevus syndrome (SHH signaling, patched mutation causes unregulated smoothened signaling) |
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Term
| what is dystolic dysfunction? contrast this to systolic dysfunction? |
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Definition
diastolic dysfunction: inability of heart to relax properly during diastole (e.g. ischemia (energy-dependent ATP pump is required for relaxation), loss of compliance)
systolic dysfunction is inability for the heart to pump out enough blood (e.g. MI) |
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Term
| respiratory failure, thrombocytopenia (petechial rash), & neurologic problems after a trauma |
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Definition
fat emboli (usually bone fractures)
thrombocytopenia is thought to occur because platelets aggregate around the fat embolus
stain fat w/ osmium tetroxide & it'll turn black |
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Term
| Primidone has antiepileptic properties because? |
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Definition
it is metabolized to phenobarbital & phenylethymalonamide (PEMA)
this drug also shortens the QT interval --> may be used for long QT syndrome |
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