8 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... the lab values table ... #Genetics #Pathophysiology ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
Refeeding Syndrome ... • Incr Glucose Metabolism ... - Metabolic ... #pathophysiology ... #symptoms #signs
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... from hormonal and metabolic ... overload) Other Symptoms ... abnormalities persist #Refeeding ... Differential #Diagnosis #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... • Early: decr feeding ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... abuse may lead to metabolic ... Cardiac Arrest #BulimiaNervosa ... Complications #pathophysiology ... diagnosis #signs #symptoms
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... causing disordered feeding ... over mistakes #BulimiaNervosa ... #pathophysiology ... diagnosis #signs #symptoms