23 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 before refeeding ... Differential #Diagnosis #Pathophysiology
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus vs Syndrome ... ) - Comparison Table ... SIADH #Comparison #Table ... #Pathophysiology ... #Signs #Symptoms
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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology