Board Qs Flashcards
Wernicke-Korsakoff
Wernicke: oculomotor dysfunction, ataxia, encephalopathy; mamillary bodies; alcoholics; thiamine (B1) def
Korsakoff: chronic deficiency = amnesia, confabulation, apathy
Fragile X
Fragile X syndrome is caused by an increased number of CGG trinucleotide repeats on the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. This leads to hypermethylation and inactivation of FMR1; macroorchidism, large jaw, intellectual disability
Huntington disease
CAG repeat on chromosome 4 caused by looping and repair during replication, unequal crossing over during meiosis
Friedreich’s ataxia
FXN gene encoding for frataxin (GAA)
stumbling, childhood kyphoscoliosis, hammertoes, pes cavus, dysarthria, nystagmus
direct bilirubin disorders
Rotor (NML liver histology, elevated total urine coproporphyrin) and Dubin Johnson (black liver, NML total coproporphyrin)
SCID
recurrent infections, FTT, diarrhea
ADA deficiency
William Syndrome
elfin face, hypercalcemia, developmental delay, well-developed skills, cardiac issues
encephalopathy secondary to liver cirrhosis pathophys
ammonia is metabolized in liver > when it’s not, it causes swelling in the brain > somnolence, asterixis (hand-flapping tremor), coma
Kartagener
AKA primary ciliary dyskinesia
AR
defect in dynein
chronic resp infections, recurrent OM, infertility, situs inversus (point of maximal impulse may be on right), bronchiectasis
presentations of SCD
vaso-occlusive crisis (dactylitis most often)
stroke (pediatric)
acute chest syndrome (fever, chest pain, hypoxemia, resp distress)
splenic sequestration (SM, decreased Hb, thrombocytopenia)
Lesch Nyhan
XL
deficiency of HGPRT
developmental delay, self-mutilation, gout, choreiform movements
Lassa fever
arenaviridae (grains of sand appearance on EM) > 2 segmented ambisense ssRNA genome; hemorrhagic fever (pharyngitis, cough, N/V/D, myalgia, retrosternal chest pain, back pain, abd pain; face swelling, pulm edema, mucosal bleeding ,hypotension, deafness if severe
adenovirus
swimming pool conjunctivitis (fever, sore throat, coryza, red eyes, pharyngitis)
Hartnup
def in tryptophan > precursor to niacin (B3) > pellagra (4 Ds = dermatitis, diarrhea, dementia, death)
how do you decrease type II error?
increase power by increasing sample size or decreasing variability
carcinoid syndrome
secretes high levels of serotonin; hydroxyindoleacetic acid (5-HIAA) is metabolite of serotonin found in urine of these pt
Presentation: wheezing, diarrhea, flushing, right-sided valvular lesions (esp tricuspid regurg)
DIC
low platelets, low plasminogen, high PT (activation of both coagulation and fibrinolytic system > excessive consumption of clotting factors and platelets)
ITP
low platelets, elevated bleeding time, NML PT, PTT; idiopathic meaning there’s not really anything besides low platelets and high bleeding time consequently to tell you anything
VWD
NML platelets, high bleeding time and PTT (VIII stabilized by vwf)
vitelline duct abnormalities
persistent vitelline duct (fistula) = meconium discharge from umbilicus
Meckel diverticulum = most common
vitelline sinus
vitelline duct cyst
West Nile
fever, headache, rash, neuroinvasive sx (Parkinsonian, asymmetric flaccid paralysis)
where are lipophilic drugs (like anesthesia) absorbed quickly?
Well-vascularized tissue > brain, kidney, liver, lungs, heart
delayed distribution in skeletal m, bone, fat
chronic bronchitis most commonly caused by…
smoking
type I pneumocytes
form alveolar capillary barrier with endothelial cells