ANSWERS RATED A+
✔✔Lynch syndrome - ✔✔ovarian, endometrial CRC
MSHI
✔✔Li-Fraumeni syndrome - ✔✔germline mutation of one p53 gene.
Sarcoma
Breast
Adrenal
Leukemia
✔✔What drug is contraindicated in Parkinson's disease (related to gastric emptying) -
✔✔Metoclopramide
✔✔black stains on diaper after being left out too long? - ✔✔alkaptonuria
✔✔complications of alkaptonuria - ✔✔osteoarthropathy
✔✔inheritance of alkaptonuria - ✔✔AR
✔✔Where is the substantia nigra - ✔✔midbrain in cerebral peduncle
✔✔ischemia leads to what cellular changes - ✔✔depletion of ATP
no Na/K pumps
EC K increases
✔✔Where are juxtaglomerular cells located? - ✔✔wall of afferent arteriole in the macula
densa
✔✔Runner what's happening to GnRH? - ✔✔Hypothalamic suppression
Decreased GnRH
✔✔Differentiate between causes of Marfanoid habitus - ✔✔Marfans - aortic root dilation,
AD, normal intellect, UPWARD lens dislocation
Homocystinuria - ID, thrombosis, AR, DOWNWARD lens dislocation
✔✔What would venous obstruction through the liver show? - ✔✔Free fluid in peritoneal
cavity (ascites)
✔✔How does DNA replication work - ✔✔5' to 3' of the end that is being made!!! aka
would be 3' side of the complementary strand
✔✔What crosses fetal placenta barrier - ✔✔LIPOPHILIC THINGS
, ✔✔Warfarin embryopathy - ✔✔midfacial hypoplasia, chrondrodysplasia punctata,
hemorrhage, organ dysplasia, CNS defects
✔✔mode of infection of Neisseria - ✔✔pili bind to host epithelium cells
✔✔Retina findings in an HIV patient? - ✔✔CMV retinitis
✔✔Treatment of CMV retinitis - ✔✔Ganciclovir
✔✔ganciclovir MOA - ✔✔5′-monophosphate formed by a CMV viral kinase. Guanosine
analog. Triphosphate formed by cellular kinases.
Preferentially inhibits viral DNA polymerase. Preferentially inhibit viral DNA polymerase
by chain termination.
✔✔Phenotypic mixing vs reassortment - ✔✔Phenotypic mixing - not passed to progeny
Reassortment - passed down
✔✔What kind of viruses can undergo reassortment? - ✔✔Segmented
✔✔Segmented viruses - ✔✔bunyavirus
orthomyxovirus
arenavirus
reovirus
✔✔Impaired exercise intolerance and muscle cramping - what biochemic process? -
✔✔glycogenolysis
✔✔spirinolactone - what electrolyte abn? - ✔✔hyperkalemia
✔✔Hyperkalemia ECG - ✔✔Peaked T waves
✔✔What causes Grave's ophthalmopathy - ✔✔Stimulation of orbital fibroblasts by
thyrotropin receptor antibodies
Excess GAGs produced
✔✔Describe jugular venous tracing - ✔✔
✔✔How does squatting relieve Tet - ✔✔increases SVR and afterload REDUCING right
to left shunt
✔✔Parinaud syndrome - what is it and what is it associated with - ✔✔Assoc with
pinealoma
Upward gaze palsy, absent pupillary light reflex, impaired convergence