69 results
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 ... management #cardiology #peds
Carcinoid Syndrome - Pathophysiology, Signs and Symptoms
Symptoms: Flushing, diarrhea, palpitations, bronchospasm
Complications: Carcinoid heart, mesenteric fibrosis, pellagra,
Carcinoid Syndrome ... - Pathophysiology ... , Signs and Symptoms ... #Pathophysiology ... #Signs #Symptoms
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Cubital Tunnel Syndrome: Pathogenesis and clinical findings

 • Paresthesia of 5th and medial half of 4th
Cubital Tunnel Syndrome ... test • + Tinel sign ... CubitalTunnel #Syndrome ... #Diagnosis #pathophysiology ... #signs #symptoms
Metabolic Pathways of Purple Urine Bag Syndrome: Adopted from chart originally published in Purple Urine Bag
of Purple Urine Bag ... Syndrome: Adopted ... Syndrome: A Rare ... #Pathophysiology ... #Syndrome
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Purple Urine Bag Syndrome
Chronic, indwelling catheter + bacteriuria (Providencia, Klebsiella, E.coli*) + alkaline urine
Tryptophan → Indoxyl
Purple Urine Bag ... Syndrome Chronic ... Purple #Urine #Bag ... #Syndrome #PUBS ... #pathophysiology
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus vs Syndrome ... Comparison #Table #Pathophysiology ... #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 ... • Rizutti's Sign ... #Keratoconus #pathophysiology