Term
| Budd-Chiari Syndrome (posthepatic venous thrombis) |
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Definition
| Abdominal pain, ascites, hepatomegaly |
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Term
| Familial Hypercholesterolemia |
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Definition
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Term
| Waterhouse-Friderichsen syndrome (meningococcemia) |
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Definition
| Adrenal hemorrhage, hypotension, DIC |
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Term
| Marfan's syndrome (fibrillin defect) |
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Definition
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
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Term
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Definition
| Athlete with polycythemia |
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Term
| Pott's disease (vertebral tuberculosis) |
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Definition
| Back pain, fever, night sweats, weight loss |
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Term
| Sarcoidosis (non-caseating granulomas) |
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Definition
| Bilateral hilar adenopathy, uveitis |
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Term
| Osteogenesis imperfecta (collagen defect) |
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Definition
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Term
| Burton's line (lead poisoning) |
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Definition
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Term
| Paget's disease of bone (↑ osteoblastic and osteoclastic activity) |
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Definition
| Bone pain, bone enlargement, arthritis, ↑alk phos |
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Term
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Definition
| Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas |
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Term
| Neurofibromatosis type II |
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Definition
| Café-au-lait spots, Lisch nodules (iris hamartoma), bilateral acoustic neuromas |
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Term
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
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Definition
| Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
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Term
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Definition
| Bounding pulses, diastolic murmur, head bobbing |
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Term
| Muscular dystrophy (most commonly Duchenne's) |
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Definition
| Calf pseudohypertrophy (actually fatty infiltration) |
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Term
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central Retinal Artery occlusion |
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Definition
| "Cherry-red spot" on macula |
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Term
| Dressler's syndrome (autoimmune-mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode) |
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Definition
| chest pain, pericardial effusion/friction rub, persistent fever following MI |
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Term
| Gower's sign (Duchenne's Muscular dystrophy: X-linked recessive deleted dystrophin gene) |
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Definition
| Child uses arms to stand up from squat |
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Term
| "Slapped cheeks" (erythema infectiosum/fifth disease:parvovirus B19) |
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Definition
| Child with fever develops red rash on fave that spreads to body |
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Term
| Huntington's disease (autosomal-dominant CAG repeat expansion) |
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Definition
| Chorea, dementia, caudate degeneration |
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Term
| McArdle's disease (muscle phosphorylase deficiency) |
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Definition
| Chronic exercise intolerance with myalgia, fatigue, painful cramps |
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|
Term
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Definition
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Term
| Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke] |
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Definition
| Conjugate lateral gaze palsy, horizontal diplopia |
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|
Term
| PDA (close with indomethacin; open with misoprostol) |
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Definition
| Continuous "machine" heart murmur |
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Term
| Myxedema (hypothyroidism, Grave's disease) |
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Definition
| Cutaneous/dermal edema due to connective tissue deposition |
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Term
| Kaposi's sarcoma (usually AIDS patients: associated with HHV-8) |
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Definition
| Dark purple skin/mouth nodules |
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Term
|
Definition
| Deep, labored breathing/hyperventilation |
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|
Term
| Pellagra (niacin [vitamin B3] deficiency) |
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Definition
| Dermatitis, dementia, diarrhea |
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|
Term
| Wet beriberi (thiamine [vitamin B1] deficiency) |
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Definition
| Dilated cardiomyopathy, edema, polyneuropathy |
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Term
| Pasteurella multocida (cellulitis at inoculation site) |
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Definition
| Dog or cat bite resulting in infection |
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|
Term
| Sjögren's syndrome (autoimmune destruction of exocrine glands) |
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Definition
| Dry eyes, dry mouth, arthritis |
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Term
| Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
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Definition
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia |
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|
Term
| Ehlers-Danlos syndrome (collagen defect, usually type III) |
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Definition
| Elastic skin, hypermobility of joints |
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|
Term
| Virchow's node (abdominal metastasis) |
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Definition
| Enlarged, hard left supraclavicular node |
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Term
| Sézary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
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Definition
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
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Term
| Chvostek's sign (hypocalcemia) |
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Definition
| Facial muscle spasm upon tapping |
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Term
| Gallstones (cholelithiasis)- bile duct blockage |
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Definition
| Fat, female, forty, fertile |
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|
Term
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
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Definition
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis |
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|
Term
|
Definition
| Fever, cough, conjunctivitis, coryza, diffuse rash |
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|
Term
|
Definition
| Fever, night sweats, weight loss |
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|
Term
| Peyronie's disease (connective tissue disorder) |
|
Definition
| Fibrous plaques in soft tissue of penis |
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|
Term
| Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
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Definition
| Gout, mental retardation, self-mutilating behavior in a boy |
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|
Term
| Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
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Definition
| Green-yellow rings around peripheral cornea |
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Term
| Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; ↑ cancer risk) |
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Definition
| Hamartomatous GI polyps, hyper-pigmentation of mouth/feet/hands |
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|
Term
| Gaucher's disease (glucocerebrosidase deficiency) |
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Definition
| Hepatosplenomegaly, osteoporosis, neurologic symptoms |
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|
Term
| Alport's syndrome (Type IV collagen mutation) |
|
Definition
| Hereditary nephritis, sensorineural hearing loss, cataracts |
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|
Term
| Trousseau's sign (adenocarcinoma of pancreas or lung) |
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Definition
| Hyper-coagulability (leading to migrating DVTs and vasculitis) |
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|
Term
| Klüver-Bucy syndrome (bilateral amygdala lesion) |
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Definition
| Hyperphagia, hypersexuality, hyperorality, hyperdocility |
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|
Term
| Conn's syndrome (1º hyperaldosteronism) |
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Definition
| Hypertension, hypokalemia, metabolic alkalosis |
|
|
Term
| "Blue Bloater" (chronic bronchitis: hyperplasia of mucus cells) |
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Definition
| Hypoxemia, polycythemia, hypercapnia |
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Term
Nonpainful chancre (1º syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi) |
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Definition
| Indurated, ulcerated genital lesion |
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