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abdominal pain, ascites, hepatomegaly - ✔✔Budd-Chiari syndrome
Familial hypercholesterolemia - ✔✔achilles tendon xanthoma
adrenal hemorrhage, hypotension, DIC - ✔✔Waterhouse-Friderichsen syndrome
biochemistry of Marfan's syndrome - ✔✔fibrillin defect
posthepatic venous thrombosis - ✔✔Budd-Chiari syndrome
Familial hypercholesterolemia biochemistry - ✔✔decrease in LDL receptor signaling
Waterhouse-Friderichsen syndrome cause - ✔✔meningococcemia
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - ✔✔Marfan's
syndrome
Athlete with polycythemia - ✔✔EPO injection
Pott's disease - ✔✔vertebral TB
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,Pott's disease clinical presentation - ✔✔back pain, fever, night sweats, weight loss
Sarcoidosis main histological presentation - ✔✔noncaseating granuloma
bilateral hilar adenopathy + uveitis - ✔✔sarcoidosis
Osteogenesis imperfecta - ✔✔type I collagen defect
Blue sclera indicate what? - ✔✔osteogenesis imperfecta
Burton's line indicates what? - ✔✔lead poisoning
Burton's line - ✔✔bluish line on gingiva
Paget's disease of the bone biochemistry - ✔✔increase in osteoblastic and osteoclastic
activity
bone pain, bone enlargement, arthritis - ✔✔Paget's disease of the bone
bounding pulses, diastolic heart murmur, head bobbing - ✔✔aortic regurgitation
butterfly facial rash, Raynaud's phenomenon in a young female - ✔✔SLE
Neurofibromatosis type I associated with what malignancies - ✔✔pheochromocytoma,
optic gliomas
cafe-au-lait spots and Lisch nodules - ✔✔Neurofibromatosis type I
Lisch nodules - ✔✔iris hemartoma
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,McCune-Albright syndrome biochemistry - ✔✔mosaic continuous activation of
stimulatory G protein
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine
abnormalities - ✔✔McCune-Albright syndrome
Duchenne's muscular dystrophy - ✔✔X-linked recessive deletion of dystrophin gene
Calf pseduohypertrophy - ✔✔Duchenne's muscular dystrophy
clinical sign of Tay-Sach's, Niemann-Pick, or central retinal artery occlusion -
✔✔Cherry-red spot on macula
ganglioside accumulation - ✔✔Tay-Sach's
sphingomyelin accumulation - ✔✔Niemann-Pick disease
Stable angina - ✔✔with moderate exercise
Unstable angina - ✔✔with minimal exertion
Angina - ✔✔chest pain on exertion
autoimmune-mediated post-MI fibrinous pericarditis 1-12 weeks after acute episode -
✔✔Dressler syndrome
Chest pain, pericardial effusion, friction rub, persistent fever following MI 1-12 weeks
after - ✔✔Dressler's syndrome
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, Gowers' sign associated with what disease? - ✔✔Duchenne muscular dystrophy
Gower's sign definition - ✔✔child uses arms to stand up from squat
"Slapped cheeks" - ✔✔erythema infectiosum/fifth disease
Erythema infectiosum/fifth disease - ✔✔parvovirus B19
child with fever later develops red rash on face that spreads to body - ✔✔erythema
infectiosum/fifth disease
autosomal-dominant CAG repeat expansion - ✔✔Huntington's disease
chorea, dementia, caudate degeneration - ✔✔Huntington's disease
muscle glycogen phosphorylase deficiency - ✔✔McArdle's syndrome
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria -
✔✔McArdle's disease
Cold intolerance may suggest what diagnosis? - ✔✔hypothyroidism
Lesion that causes internuclear ophthalmoplegia - ✔✔damage to MLF
Bilateral internuclear opthalmoplegia associated with what condition? - ✔✔multiple
sclerosis
cause of Unilateral internuclear opthalmoplegia - ✔✔stroke
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