05 APR 2017 1104 MIX Flashcards
what drugs increase the risk of milk alkali syndrome?
- thiazide diuretics
- ACE inhibitors / ARBs
- NSAIDs
what is the metabolic derangement in milk alkali syndrome?
metabolic alkalosis
what is the parathyroid hormone level in milk alkali syndrome?
low / suppressed
- macrocytic anemia
- low reticulocyte count
- congenital anomalies
- congenital anomalies (short stature, webbed neck, cleft lip, shielded chest, triphalangeal thumbs)
diamond blackfan anemia (congenital hypoplastic anemia)
how is the macrocytic anemia of diamond blackfan anemia different from megaloblastic anemia?
in diamond blackfan anemia there is no hypersegmentation of nuclei
- eczema
- thrombocytopenia
- hypogammaglobulinemia
wiskott-aldrich syndrome
what is the average age of onset for fanconi anemia?
8
- cafe au lait spots
- microcephaly
- microphthalmia
- short stature
- horseshoe kidneys
- absent thumbs
fanconi anemia
what is the inheritance of myotonic muscular dystrophy?
autosomal dominant
what is the clinical presentation of myotonic muscular dystrophy? (onset, clinical presentation, comorbidities)
- onset: 12-30
- presentation: facial weakness, hand grip weakness / myotonia, dysphagia
- comorbidities: arrhythmias, cataracts, balding, testicular atrophy / infertility
- facial weaknes
- hand grip myotonia / weakness
- dysphagia
- cardiac conduction abnormalities / arrhythmias / heart failure
- cataracts
- balding
- testicular atrophy / infertility
myotonic muscular dystrophy
during which sleep phase do sleep terrors occur?
nonrapid eye movement
what are the quad screen results in down syndrome?
- MSAFP: low
- BhCG: high
- estriol: low
- inhibin A: high
what are the quad screen results in trisomy 18?
- MSAFP: low
- BhCG: low
- estriol: low
- inhibin: normal
what are the quad screen results in neural tube or abdominal wall defects?
- MSAFP: HIGH
- BhCG: normal
- estriol: normal
- inhibin: normal
