11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... Pediatrics #Table #IEM
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
Elevated Liver Function ... Tests (LFTs) - Differential ... Diagnosis Framework ... 500-1000): • Genetic ... #Diagnosis #hepatology
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Liver Function Tests ... hepatocellular injury, genetic ... LouLectures #Liver #Function ... Interpretation #diagnosis ... #hepatology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... Impaired B cell function ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Causes of Thrombocytopenia and Platelet Disorders - Differential Diagnosis and Workup
History:
 - Prior platelet count, family
Platelet Disorders - Differential ... Diagnosis and Workup ... country), thyroid function ... #Diagnosis #Causes ... #Workup #hematology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... Diagnosis: Infection ... #management #hematology
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... up to 70% • IgM ... bile ducts Differential ... Diagnosis: • ... #workup #hepatology
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... studies show no ↓ LV function ... teratogenic GDMT meds ... Cardiomyopathy #diagnosis
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
anticoagulant • IgM ... Thrombosis in vascular beds-renal ... Paraproteinemias #Hematology ... #Monoclonal #Differential ... #Diagnosis #Oncology