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management rheumatology dermatology syndrome amyloid amyloidosis antinxp2 antinxp2dm b12 calcifications cardiology cardiomyopathy celiac clincial cobalamin compared comparison cryoglobulinemia cryoglobulinemic deficiency
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... deficiency, or Wolman’s disease ... and gut, which causes ... #clincial #peds ... #infant #NEJM #
IgG4-Related Disease Clinical history: Man, 60 years, multiorgan involvement, unique or multiple inflammatory pseudotumor 4 phenotypes: •
IgG4-Related Disease ... Clinical history ... aorta, salivary glands ... supporting long-term ... #Disease #diagnosis
Lichen Planus- ...On examination, numerous purple papules were noted on the anterior surface of the forearms
confirming the diagnosis ... an autoimmune disease ... used in primary treatment ... #NEJM #clinical ... #derm #wickhams
Erythemas Summarized Erythema ab igne • A dermatosis that results from repeated exposure to heat (fires, heating
fires, heating pads ... early localized disease ... variant of lichen planus ... called "Bazin's disease ... #differential #diagnosis
Non-HCV infectious mixed cryoglobulinemia vasculitis - Diagnosis, causes and management - French Vasculitis Study Group < 5%
, causes and management ... cryoglobulinemia vasculitis Clinical ... neuropathy Treatment ... are frequently related ... with refractory disease
Syphilis - Clinical Manifestations and Treatment 1) Primary Syphilis • Direct lesion contact during sex is responsible
Syphilis - Clinical ... responsible for most cases ... loss • Skin: Rash ... meningovascular disease ... Syphilis #stages #diagnosis
Clinical Manifestations of Sickle Cell Disease Anaemia Infection Painful crises Priapism Splenomegaly Long Term Problems - Short stature and delayed puberty, Stroke
Clinical Manifestations ... Infection Painful crises ... Splenomegaly Long Term ... Heart failure, Renal ... Signs #Symptoms #Diagnosis
Vitamin B12 (Cobalamin) Deficiency Etiology: • Vit B12 - aka cobalamin. Present in foods derived from animal
• Common Causes ... intrinsic factor, IF) Clinical ... pain, diarrhea related ... to IBD, celiac disease ... • P/E - GI and derm
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Shock, Autoimmune disease ... epilepticus Treatment ... the underlying cause ... • Treatment of ... until cause identified
Amyloidosis - Summary Group of disorders associated with extracellular deposition of fibrils formed from low-molecular-weight proteins in
amyloidosis • Dialysis-related ... Clinical suspicion ... the extent of disease ... Amyloidosis Clinical ... Manifestations: Renal
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