Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
142 Cards in this Set
- Front
- Back
|
complication of confined placental mosaicism
|
abnormal placental development
oligohydramnios intrauterine growth retardation |
|
|
mode of inheritance: G6PD
|
X-linked recessive
|
|
|
mode of inheritance: Lesch-Nyhan
|
X-linked recessive
|
|
|
mode of inheritance: Hemophilia A
|
X-linked recessive
|
|
|
mode of inheritance: Duchenne;s
|
X-linked recessive
|
|
|
mode of inheritance: Leber's hereditary optic neuropathy
|
mitochondria
|
|
|
mode of inheritance: NF
|
AD
|
|
|
mode of inheritance: Ehler's Danlos
|
AD
|
|
|
mode of inheritance: Osteogenesis imperfecta
|
AD
|
|
|
mode of inheritance: Sickle cell, Tay Sach's
|
AR
|
|
|
Eq for specificity
|
TN/(TN+FP)
|
|
|
Eq for sensitivity
|
TP/(TP+FN)
|
|
|
Eq for CI
|
Mean +/- Z(S/sqrtN)
Z = 1.96 for 95% S=standard deviation N=sample size |
|
|
only lipid storage disease with X-linked genetics
|
Fabry's
|
|
|
"globoid" cells in degenerating white matter
|
Krabbe's disease (lipid-storage)
|
|
|
deficiency in arylsulfatase A
|
metachromatic leukodystrophy
|
|
|
infant with tetany, dysmorphic facies with low-set ears and micrognathia
|
DiGeorge (del in chromosome 22)
|
|
|
MC type of bias in cohort study
|
selection/sampling
|
|
|
3 stop codons
|
UAA,UGA, UAG
|
|
|
Negative Predictive value
|
% chance that a normal test result is a true negative
TN/(TN+FN) |
|
|
Positive Predictive value
|
% chance that an abnormal test result represents a true positive
TP/(TP+FP) |
|
|
What happens to NPV and PPV when prevalence declines
|
NPV increases
PPV decreases |
|
|
Club feet/rocker bottom feet
multiple congenital anomalies life expectancy <1yr |
Trisomy 18: Edwards
|
|
|
baby with many midline defects: holoprosencephaly, cleft lip/palate, microphthalmia, colobomas of the iris, scalp defects
|
Trisomy 13: Patau
|
|
|
MCC spontaneous abortions d/t chromosomal defects
|
trisomy 16
|
|
|
what rxn does pyruvate carboxylase catalyze
|
Pyruvate --> Oxaloacetate
|
|
|
neonate w/ high Glucose 1P: Glucose ratio
|
(a1,4-->a1,6) glucan transferase (debranching enzyme)
|
|
|
what cofactor is needed for: conversion of homocysteine to methionine
|
B12
|
|
|
what cofactor is needed for: conversion of methlymalonyl CoA to succinyl coA
|
B12
|
|
|
what cofactor is needed for: degradation of cystathionine
|
B6
|
|
|
Do alcoholics have higher levels of NADH or NAD+
|
NADH b/c alchol dehydrogenase uses H from ethanol to form NADH
|
|
|
RLS in glycolysis
|
PFK-1
|
|
|
clinical marker of thiamine deficiency
|
transketolase in RBCs: a thiamine requiring enzyme of the non-oxidative half of the hexose monophosphate shunt
|
|
|
Name 3 substrates used in de novo pyrimidine synthesis
|
CO2
Glutamine Aspartate |
|
|
MCC albinism
|
deficiency of copper-dependent tyrosinase (tyrosine hydroxylase)
|
|
|
xanthomas on achilles tendon
arcus lipoides (opaque rings in the eyes) |
AD familial hypercholesterolemia (low LDL receptors)
|
|
|
Kinky hair, sagging cheeks and ears, depressed nasal bridge, high arched palate, seizure-like activity
|
Menkes disease (deficient cross-linking of collagen fibers secondary to cu deficiency)
|
|
|
sweaty feet urine
|
aminoacidopathy
|
|
|
what are the anaphylatoxins and what do they stimulate
|
C3a, C5a
mast cell release of histamine |
|
|
what phase of the cell cycle do these drugs act: methotrexate, mercaptopurine, thioguanine, azacytidine, hydroxyurea, 5FU, cytarabine
|
S
|
|
|
what controls entry into M phase
|
cyclin M
|
|
|
what type of shunts cause cyanosis
|
Right to Left (3T's: Tetralogy of Fallot, transposition of great vessels, truncus arteriosus)
|
|
|
what's the difference between schizophrenia and schizophreniform disorder
|
schizophreniform disorder has a shorter duration (<6mo)
|
|
|
glucocerebroside
|
Gaucher
|
|
|
child with hypotonia, hepatomegaly, cardiomegaly, cardiomyopathy and deficient activity of lysosomal acid alpha glucosidase
|
Pompe: glycogen storage disease
|
|
|
SE valproic acid
|
thrombocytopenia
|
|
|
enzyme in fructose intolerance
|
Fructose-1-phosphate aldolase
|
|
|
reed-sternberg
|
hodgkin's
|
|
|
roth's spots
|
pale retinal spots surrounded by hemorrhages in endocarditis
|
|
|
1. Action of Phosphofructokinase-1
2. What inhibits 3. what activates |
1. RLS in glycolysis; Converts Fructose6P-->Fructose1,6P
2.ATP, citrate 3. AMP, fructose2,6BP |
|
|
bcl2
|
follicular and undifferentiated lymphomas
|
|
|
L-myc
|
oncogene of small cell lung carcinoma
|
|
|
Name the chromosome: Rb
|
13
|
|
|
Name the chromosome: BRCA1,2
|
17,13
|
|
|
Name the chromosome: NF1,NF2
|
17,22
|
|
|
Name the chromosome: DPC,DCC
|
18
DPC=pancreatic cancer DCC=colon cancer |
|
|
hypnopompic v. hypnagogic hallucination
|
hypnopompic: on waking
hypnagogic: on going to sleep |
|
|
alpha L-iduronidase deficiency
|
Hurler's: hepatosplenomegaly, dwarfism, skeletal abnormalities, mental retardation, corneal clouding
|
|
|
when are ischemic changes first visible by light microscopy
|
10-12hrs
|
|
|
drug toxicity: nausea, vomiting, abdominal pain, shock. Tx: N-acetylcysteine
|
acetaminophen
|
|
|
toxicity associated with CNS atrophy, gingivitis, gastritis, renal tubular changes
|
mercury
|
|
|
young girl w/ ataxia, seizures and excessive laughter
|
Angleman's
|
|
|
embryologic orign: smooth part of right atrium, coronary sinus and oblique vein of LA
|
sinus venosus
|
|
|
embryologic orign: smooth part of RV and LV
|
bulbus cordis
|
|
|
which band of the sarcomere maintains its uncontracted length during contraction
|
A band (myosin thick only)
|
|
|
allergic granulomatosis and angitis
|
Churg-Strauss syndrome
|
|
|
protein responsible for ciliary movement (sperm,respiratory)
|
dynein
|
|
|
protein responsible for microtubule movement
|
kinesin
|
|
|
mechanism of CHF in a woman with chronic inflammatory conditions
|
Accumulation of AA (amyloid-associated protein)
|
|
|
What diseases are assoc with
1. AA 2.AE 3.AF 4.AL |
1.RA - AA deposits in heart
2.medullary carcinoma of thyroid and pancreatic islet cell adenoma (local distribution) 3. familial in peripheral nerves and kidney; senile cardiac amyloidosis 4.myeloma and B cell malignant lymphomas |
|
|
cold, introverted personalities. fear closeness
|
schizoid personality
|
|
|
Etiology of..
1. Abdominal AA 2. Dissecting Aneurysm 3. Aortic root 4. small artery aneurysm |
1. atherosclerosis
2. Cystic medial necrosis (marfans) 3. syphillis 4. vasculitis |
|
|
AB2 M amyloid
|
chronic dialysis
|
|
|
AAtype of amyloid protein in secondary amyloidosis
|
AA
|
|
|
what do these clinical findings have in common: nephrotic syndrome, arrhythmia, heart failure, macroglossia, malabsorption, hepatosplenomegaly, carpal tunnel
|
primary and secondary types of amyloidosis
|
|
|
AL is found in ... amyloidosis.
what is it associated with |
AL
MM |
|
|
inhibits microtubule degradation
|
paclitaxel
|
|
|
mutation in
1. ataxia telangiectasia 2. XP |
1. 11q22 mutation --> inactivation of tumor suppressor gene
2. excision endonuclease |
|
|
which blood vessels have the highest ratio of wall cross-sectional area: lumen CSA
|
arterioles
|
|
|
Tx of mycoplasma pneumoniae
|
macrolides (azithromycin and erythromycin)
|
|
|
mechanism of macrolides
|
bind 50S
|
|
|
1. nonbudding spherule filled with endospores
2. multiple budding 3. thin cell wall, no true capsule |
1coccidioides
2.paracoccidioides 3.histoplasma |
|
|
tPalivizumab
|
x of RSV
|
|
|
Abatacept
|
inhibits Tcell activation and indicated for RA
|
|
|
Daclizumab
|
binds IL-2
prevents tissue rejection in transplant patients |
|
|
corkscrew-shaped casts resulting from mucus plugs
|
curschmann's spirals in COPD
|
|
|
ferruginous bodies
|
asbestosis
|
|
|
Pt w/ ulcerations on finger tips and trophic nail changes from segmental thrombosis
|
Buerger
|
|
|
multisystem disease with uveitis and aphtous ulcers on genitalia or in mouth
|
Behcet
|
|
|
what part of the heart is most significantly and immediately affected by a PE
|
right ventricle
|
|
|
class: mexiletine, tocainide
|
IB antiarrhythmic
|
|
|
class:procainamide, disopyramide
|
IA antiarrhythmic
|
|
|
class: phentolamine
|
a blocker
|
|
|
isoproterenol
|
B blocker
|
|
|
prokaryote without muramic acid in its cell wall associated with atherosclerosis
|
Chlamydia pneumoniae (CMV is also implicated)
|
|
|
% of patients with ischemic heart disease present with sudden death
|
25%
|
|
|
what vein is found anterior to the medial malleolus and posterior to the medial side of the knee
|
saphenous
|
|
|
MCC otitis externa
|
Pseudomonas
|
|
|
MCC otitis media
|
S.pneumo, Hib
|
|
|
class: indapamide, metolazone
|
thiazide diuretic
|
|
|
what histiological finding is necessary for the diagnosis of granulomatous inflammation
|
epithelioid histiocytes
|
|
|
what cardiac abnormality is associated with cystic hygromas
|
Turner's is associated with coarctation of the aorta
|
|
|
% of Down's w/ congenital cardiovascular disease
|
20%
|
|
|
left parasternal heave
apical heave |
LVH
RVH |
|
|
tx of HACEK
|
ceftriaxone
|
|
|
SE of ceftriaxone
|
thrombocytosis
|
|
|
SE cefaclor
|
serum-like sickness
|
|
|
rank the following in the order in which they occur post-MI
ventricular wall rupture arrhythmia LVfailure fibrinous pericarditis |
2d arrhythmia
7d rupture weeks fibrinous pericarditis 60d LVF |
|
|
Zafirlukast mechanism
|
LTD4 antagonist
|
|
|
antibiotic used to tx M.pneumoniae that inhibits translocation of the growing peptide chain along mRNA
|
erythromycin
|
|
|
vitamin depleted with isoniazid use
|
pyridoxine, B6
|
|
|
chemotactic factors for neutrophils
|
C5a and IL8
|
|
|
which HLA allele is hemochromatosis associated with
|
HLA-A3
|
|
|
HLA-DR2 and DR3
|
SLE
|
|
|
HLA-DR3and4
|
type 1 diabetes
|
|
|
HLA4
|
type 1 diabetes and RA
|
|
|
Irinotecan:mechanism, SE
|
topoisomerase I inhibitor
cholinergic syndrome: diarrhea, neutropenia, hypersalivation, diaphoresis |
|
|
carmustine:mechanism, SE
|
alkylating agent
myelosuppression, nausea, vomiting |
|
|
gemcitabine: mechanism
|
pyrimidine analog
|
|
|
anticancer drug that inhibits DNA pol and SE are leukopenia and anemia
|
cytarabine
|
|
|
BB contraindicated in exertional angina
|
acebutolol and pindolol - intrinsic sympathomimetic activity
|
|
|
how are intraerythocytic parasites (eg. Babesia microti) destroyed
|
NK
|
|
|
how are large tissue parasites (eg. filiaria ) destroyed
|
ab-dependent cell-mediated cytotoxicity. Coat worms with IgE
|
|
|
defect in epithelial transport of AA --> diarrhea, dementia, dermatitis
|
Hartnup's disease
|
|
|
urine turns black upon standing
dehabilitating arthritis |
alkaptonuria
|
|
|
pt with Wiskott-Aldrich are at increased risk of developing what type of malignancy
|
non-hodgkin lymphoma
|
|
|
3 locations of elastic fibers
|
large arteries (aorta)
vocal cords ligamenta flava |
|
|
tx of malaria in pt with psoriasis
|
proguanil and atovaquone
|
|
|
woman on anticoagulants develops sharply demarcated erythematous rash on left thigh. A few days later it's a large hemorrhagic bullae
|
skin necrosis from Warfarin
|
|
|
which cancer is associated with overexpression of bcl-2
|
follicular (14:18)
|
|
|
how are HUS and TTP different
|
the vascular bed of the CNS in not involved in HUS so there are no mental status changes
|
|
|
translocation of Acute promyelocytic leukemia (M3)
|
15:17
|
|
|
what does the right lymphatic duct drain
|
right arm,chest, right side of head
|
|
|
what does the thoracic duct drain
|
right leg and left side of the body
|
|
|
platelet count for generalized bleeding
|
less than 20,000
|
|
|
mechanism of Zileuton
|
inhibits 5-lipoxygenase, enzyme that converts arachidonic acid to leukotrienes
|
|
|
MOA Zafirlukast and montelukast
|
leukotriene antagonists
|
|
|
MOA Terazosin
|
peripherally acting a1 antagonist
|
|
|
pathogenesis of thalassemia A
|
decrease in alpha globin chain synthesis due to gene deletions
|
|
|
DOC CLL
|
Chlorambucil
|
|
|
birbeck granules
|
langerhans cell histiocytosis (histiocytosis X)
|
|
|
drug that blocks IgEE from binding to Fc on mast cells and basophils preventing histamine release
|
omalizumab
|
