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diagnosis management genetics inbornerrors metabolism neonatology nicu pediatrics peds syndrome table barre biliary cholangitis cirrhosis differential fungal gbs guillain hepatology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Lab patterns seen ... A table of lab ... values compiled ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... See the lab values ... #Diagnosis #Algorithm ... Pediatrics #Table #IEM
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... wasting PBC Labs ... • ALT & AST normal ... up to 70% • IgM ... cholangitis #diagnosis #workup
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary Epidemiology: • Prevalence: 1-2 cases per million -
Person Syndrome Pathophysiology ... EMG testing Lab ... antibody that works ... Oligoclonal bands • Normal ... Management #treatment #neurology
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
slightly greater in males ... protein with a normal ... - Of note, normal ... the underlying pathophysiology ... diagnosis #management #neurology
Mycoses HISTOPLASMOSIS • Inhalation of conidia → Yeast → travel to lymph nodes → spread in body • Bird
Diagnosis: • Labs ... and Ohio River valleys ... by culture or serology ... level • A low or normal ... Aspergillosis Pathophysiology
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