16 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 →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... infiltration) Differential ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders - Differential ... 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 ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
from hormonal and metabolic ... overload) Other Symptoms ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology