ANSWERS { GRADED+}
Neurofibromatosis - ✔✔Cafe-au-lait spots, seizures, large head
autosomal dominant
Pierre Robin Sequence - ✔✔Mandibular hypoplasia, glossoptosis, cleft
soft palate
- w/ FAS or Edwards
Smith Magenis - ✔✔Broad, square face w/ short stature, self injurious
behavior. Deltion on Chr. 17
Prader Willi - ✔✔Hypotonia, hypogonadism, hyperphagia, skin picking,
agression, deletion on paternal Chr. 15
,Angelman - ✔✔seizures, strabismus, sociable w/ episodic inappropriate
laughter. Deletion on maternal chr. 15
Williams - ✔✔elfin appearance, friendly, empathy and verbal reasoning
ability, deletion on chr. 7
Cornelia de Lange - ✔✔IUGR, hypertonia, distinctive facies, limb
malformation, self-injurious behavior, hyperactive
Fetal alcohol syndrome - ✔✔microcephaly, smooth philtrum, thin
upper lip, ADHD-like behavior
most common cause of mental retardation
Fragile X Syndrome - ✔✔common type of mental retardation in boys
- CGG repeats on X-chromosome w/ anticipation. Macrocephaly,
macroorchidism, large ears
, Waardenburg syndrome - ✔✔Auto dom or associated w/ advanced
paternal age. Short palpebral fissures, white forelock and deafness.
Influenza Outbreak definition; who do you treat prophylactically -
✔✔Outbreak is 2 lab confirmed cases w/in 72hrs on same unit.
Chemoprophylaxis for all asx pts on affected unit.
21yo transitioning female to male; initial treatment? How about male
to Female? - ✔✔Transgender males - start with testosterone which will
suppress female hormones; Transgender females - spironolactone
Acid suppression therapy increases risk for: - ✔✔Community acquired
and health care assoc pneumonia due to gastric overgrowth of gram
negative bacteria; doenst increase risk of gout, HTN, or T2DM
Signs & Sx in hypo and hypercalcemia - ✔✔HYPOcalcemia - Trousseau
sign (94%) contraction of muscles caused by pressure on nerves;
HYPERcalcemia - hyperreflexia