11 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
) Pathophysiology ... postpartum): • Initial symptoms ... infiltration) Differential ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... PBC Signs and Symptoms ... bile ducts Differential ... diagnosis #workup #hepatology
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
in 1923 Low ALP ... collection with EDTA Pathophysiology ... mineralization Symptoms ... Nephrolithiasis • Metabolic ... Hyophosphatasia #hepatology
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
lymphocyte predominant (LP ... pattern of spread, B symptoms ... Classification #pathophysiology ... #Hematology #Diagnosis ... #NonHodgkin #differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
immunodeficiency may appear 3-9 ... Genetic Predisposition ... Inability to produce all ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Incidence: common in APL ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential ... diagnosis #management #hematology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
• In all patients ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... Diagnosis #Management #Hematology