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142 Cards in this Set

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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