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Abd pain, Ascites, hepatomegaly
Budd chiari syndrome (posthepatic venous thrombosis)
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We see achilles tendon xanthoma
Familal hypercholesterolemia ( reduced LDL receptro signalling)
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Adrenal hemorrhage, Hypotension, DIC
Waterhouse-friderichsem syndrome ( meningococcemia)
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Arachnodactlyl,Lens dislocation, Aortic dissection, Hyperflexible joints
Marfan's syndrome ( Fibrillin defect)
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Athlete with poylcythermia
Epo injection
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Back pain, fever, night sweats, weight loss
Pott's dz ( vertrbral TB)
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Bilateral hilar adenopathy, uveits
Sarcoidosis ( Non caseating granulomas)
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Blue sclera
Osteogenesis Imperfecta ( collagen defect)
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Bluish line on the gingiva
Burton's line ( lead poisoning) note this lead inhibits ala dehydratase and ferrochelatase.
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Bone pain, bone enlargement, arthiritis
Paget;s disease of the bone ( increased osteoblastic and osteroclastic activity) , sx presented include increased hat or shoe size.
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Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
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"Butterfly" facial rash and Raynaud's phenomenon in a young female
SLE
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Cafe-au lait spots, lisch nodules ( Iris hamartoma)
- Neurofibromatosis type 1( + pheochromacytoma, optic gliomas)
- Neurofibromatosis type 11 ( + bilateral acoustic neuromas)
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cafe-au lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune- Albright syndrome ( mosaic G-protein signalling mutations)
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Calf hyperthrophy
DMD, X-linked recessive deletion of dystrophin gene.
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"Cherry-red spot" on macula
Tay sachs ( ganglioside accumulation) or Nieman's Pick( spingolmyelin accumulation), central retinal A occlusion
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Chest pain on exertion
Angina ( Stable, moderate exertion; Unstable; minimal exertion)
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Chest pain , pericardial effusion/friction rub, persistent fever follwing an MI
Dressler;s syndrome( automimmune-mediated post MI fibrinous pericarditis, 1-12 weeks after the actue episode)
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Child uses his arms to stand up from a squat
Gower;s sign ( DMD)
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Child with fever develops red rash on face dat spreads to body.. from face down to the trunk
"slapped cheeks" ( erythema infectiosum/fifth dz; parvo B19)
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Chorea, dementia, caudate degeneration ( chorea, crazy, caudate 3 c's
Huntington;s dz ( autosomal- dominant CAG repeats expansion)
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Chronic exercise intolerance with myalgia, fatigue, painful cramps and myoglobinuria
McArdles's dz ( muscle glycogen phosphorylase defeciency)
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Cold intolerance
Hyporthyroidism
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Conjugate lateral gaze and palsy, Horizontal diplopia
Intranuclear ophthalmoplegia ( damage to the MLF; bilateral[MS], unilateral [stroke])
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Continous "machinery" heart murmur
PDA (close with indomethacin, Open with misoprostol) seen in mothers who are diabetic but mostly in transposition of great vessels.
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Cutaneous/dermal edema due to connective tissue depostion
Myxedema (caused by hypothyroidism, graves dz [periorbital])
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Dark purple skin/mouth nodules
Kaposi's sarcoma ( usally aids pts [gay men]: associated with HHV-8
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spherules filled with endospores in pt that has been to arizona, Nothern and western texas, New mexico, or california( san joaquin valley fever)
Coccidiodes Immitis..
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Deep laobored breathing /hyperventilation
Kussmaul breating (DKA)
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Dermatitis, dementia, diarhear and death, ( 3 or 4 d's)
Pellagra, lack of Niacin B3 defieciency, also lack of tryptophan (Trp) can cause this.. can also present with low serotonin and melatonin levels, as these are intermediates produced during trp metabolism.
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Dilated CM, edema, polyneuropathy
Wet beriberi (thiamine [vit B1]deficiency). can also be diagnosed via transketolase, PDH and @ketpglutarate levels as these need B1 as a cofactor to produce 3-GH, Coa and succinly coa for the HMP shunt and TCA cycle respectively. Note that you see similar sx's in DCM as in CHF...
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Dog or cat bite resulting in an infection
Pasturella multocida ( cellulitis at inoculation site)
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Dry eyes, dry mouth and arthritis
Sjorgern;s syndrome ( autoimmune destruction of exocrine glands)
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Dysphagia (esophageal webs), glossitis, iron defieciency anemia.
Plummer vinson syndrome ( may progress to esophageal sqamous cell CA)
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