39 results
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 ... NEJM #Wolmans #radiology
Adult-Onset Still's Disease
Clinical triad: Fever, Arthralgia/arthritis, Skin rash ± odynophagia
+ Biological inflammation: Increased neutrophils, Hyperferritinemia, decreased
Clinical triad ... Differential Diaqnoses ... Coxsackie, CMV, EBV ... #diagnosis #management ... #treatment #rheumatology
ANA (Antinuclear Antibody) and ANCA (Antineutrophil cytoplasmic antibodies)
 • Systemic lupus erythematosus
   1. Anti-dsDNA
+ 90% • Anti-GBM ... disease - MPO>PR3 ... Antineutrophil #antibodies #diagnosis ... #rheumatology # ... diseases
Hemophagocytic Lymphohistiocytosis (HLH)
Pathophysiology: Triggering factor (infection,...)→Activation of CD8 T cells (IFN-y) → Excessive activation of macrophages
accumulation of clinical ... Assessment • Clinical ... • Autoimmune diseases ... Treatment: • ... #summary #rheumatology
Non-HCV infectious mixed cryoglobulinemia vasculitis - Diagnosis, causes and management - French Vasculitis Study Group

< 5%
, causes and management ... cryoglobulinemia vasculitis Clinical ... neuropathy Treatment ... with refractory disease ... Cryoglobulinemia #Vasculitis #Rheumatology
Hemophilia - Diagnosis and Management
Diagnosis:
 • Consistent bleeding history (unless screening for disease in family members
screening for disease ... with established disease ... normal in mild cases ... Avoid meds that ... #hematology
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
this interesting case ... Diagnosis was made ... testing and expedite treatment ... #Diagnosis #MRI ... #Clinical #Radiology
Leptospirosis
Pathogen: Leptospira (interrogans, kirschneri, noguchii)
Risk Factors:
 • Occupational exposure - Farmers, ranchers, trappers, veterinarians
 • Recreational
non-productive cough, nausea ... : Jaundice + renal ... ARDS Diagnosis ... Epidemiologic exposure + clinical ... #treatment #management
Pulmonary Renal Syndromes - OnePager Summary
Autoimmune ANCA vasculitis (AAV): GPA (granulomatous with polyangiitis), EGPA (eosinophilic granulomatosis
life-threatening diseases ... Inflammatory eye disease ... antibody, Anti-GBM ... Goodpasture's cause ... #management #treatment
IgG4-Related Disease
Clinical history:  Man, 60 years, multiorgan involvement, unique or multiple inflammatory pseudotumor
4 phenotypes:
 •
IgG4-Related Disease ... Clinical history ... pancreas, biliary, renal ... IgG4 #Related #Disease ... #rheumatology