12 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... Hyperammonemia #Differential ... #Diagnosis
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... #management #hematology
Rhabdomyolysis - Differential Diagnosis and Management Summary

Trauma:
 • Immobilization, Crush iniury, Compartment syndrome, Electrical injury
Exertional:
 •
Rhabdomyolysis - Differential ... Diagnosis and Management ... , Heat stroke, Metabolic ... Dermatomyositis) AKI - Pathophysiology ... per day until stable
Bile Duct Paucity - Differential Diagnosis
 • Genetic: Alagille syndrome, Trisomy 21, Williams syndrome, Peroxisomal disorders
Duct Paucity - Differential ... DiagnosisGenetic ... Peroxisomal disorders • Metabolic ... Paucity #biliary #hepatology ... Diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... Diagnosis: • ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Differential Diagnosis ... Compression • Genetic ... Neuroleptic malignant syndrome ... • Metabolic and ... #nephrology #table
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... patients with the HLH syndrome ... Familial) HLH: - Genetic ... Pathophysiology ... #Management #Hematology