USMLE Egotism

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Can you name the people who these diseases, syndromes, signs, tests, and findings are named after?

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Buzzwords & FindingsEgotistical person's/people's last name(Bonus
Deficient cross-linking during collagen synthesis secondary to copper deficiency
Anosmia + lack of secondary sexual characteristics
Microtubule polymerization defect --> defective phagolysosome fusion; LYST gene defect
Triad: Ovarian fibroma + Ascites + hydrothorax
Can't see, can't pee, can't climb a tree
X-linked seen exclusively in girls! Stereotyped hand wringing.
Triad: confusion + ophthalmoplegia + ataxia (in an alcoholic)
All-absorbing interests, repetitive behavior, and problems with social relationships. Normal intelligence.
Irreversible memory loss, confabulation, personality change (in an alcoholic)
JVD with inspiration
Shitloads of IgE; T cells fail to produce IFN-gamma
Lowered elasticity of aorta shifts the dicrotic notch
Ask a patient 'where does it hurt?' Squeezes chest.
 
Pigmented iris hamartomas
Hyperorality, hypersexuality, disinhibited behavior
Incomplete closure of vitelline duct
Immotile cilia
Thyrotoxicosis if a patient with iodine deficiency goiter is made iodine replete
Coronary artery aneurysm + strawberry tongue
Nevus flammeus (ipsilateral leptomeningeal angiomatosis), seizures, early glaucoma
Granulosa cell tumor histologic finding (small follicles filled with eosinophilic secretions
1st branchial arch fails to migrate --> mandibular hypoplasia
XXY
Most common cause of primary amenorrhea
Duodenal atresia; Septum primum ASD; nuchal translucency on ultrasound
Benign ovarian tumor resembling bladder tissue
Buzzwords & FindingsEgotistical person's/people's last name(Bonus
Neisseria meningitidis induced adrenal hemorrhage
Pulseless
The goo that surrounds the umbilical arteries and vein
Telangiectasia, recurrent epistaxis, skin discolorations, AVM's
Absent cerebellar vermis; cystic enlargement of 4th ventricle.
Rocker-bottom feet; micrognathia; low-set ears; clenched hands; prominent occiput
The person who wanted MEN 1 named after them
Hemangioblastomas of retina/cerebellum, medulla; bilateral renal cell carcinomas
Thrombocytopenic purpura, Infections, Eczema
Palpable purpura on butt, arthralgia, multiple GI lesions of same ago
Boot shaped heard due to RVH; Overriding aorta
Rock-solid thyroid
Fibrinous pericarditis weeks post-MI
Aldosterone-secreting adrenal adenoma
Atrialized right ventricle (fetus) associated with mom using lithium
Fibrillin defect, subluxation of lenses, cystic medial necrosis of aorta
Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), scoliosis, optic gliomas
Decreased neutral amino acid (tryptophan) absorption; can lead to pellagra
MEN 2A's alter ego
Paternal allele deletion on 15th, mom's is methylated
Caudate atrophy
Maternal allele deletion on 15th, pop's is methylated
 
Rocker-bottom feet; cleft lip/palate; holoprosencephaly; polydactyly; normal pregnancy screen
Congenital disease with same neurologic manifestations as polio
Post-partum adrenal hemorrhage
Dorsal hand calluses from induced vomiting in bulimia nervosa
Buzzwords & FindingsEgotistical person's/people's last name(Bonus
Thymic, parathyroid, and cardiac defects
Hurthle cells
Excess iodine ingestion inhibits thyroid peroxidase and therefore organification
Reversal of cardiac blood shunting
Yolk sac tumor histologic finding (resembling glomeruli)
Endomyocardial fibrosis with a prominent eosinophilic infiltrate
X-linked mutated dystrophin gene
A maneuver requiring assistance of the upper extremities to stand up
Cerebellar tonsillar herniation through foramen magnum, often with syringomyelia
Amenorrhea secondary to adhesions
Painful hematemesis caused by hyperemesis
Asthma, palpable purpura, peripheral neuropathy; P-ANCA
c-ANCA
Oral extoderm that gives rise to the anterior pituitary
Calcification of radial/ulnar artery media
 
Faulty collagen
ST elevation secondary to resting coronary artery vasospasm
Defective type IV collagen
X-linked recessive immunodeficiency with decreased Ig (all isotypes)
Mitochondrial myopathy causing acute loss of central vision
'Elfin' facies; hypercalcemia; extreme friendliness with strangers; cardiovascular problems
GI malignancy metastatic to ovaries
Bilateral renal agenesis
Chronic primary adrenal insufficiency

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