40 results
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
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
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Algorithm #Causes #Peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
, vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... with Kleefstra Syndrome ... that make it difficult ... #PatientInfo #Peds
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... prior to growth plate ... excess after growth plate ... Carpal Tunnel Syndrome ... endocrinology #pathophysiology
Approach to the Hypotensive Patient - Differential Diagnosis Framework for Hypotension

Blood Pressure = Heart Rate x
Pressure = Heart Rate ... • Sick sinus syndrome ... • Vasodilatory meds ... Aortic stenosis • Meds ... • Vasodilatory meds
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Threatening Event (ALTE ... Metabolism • Reye's Syndrome ... LifeThreatening #Event #ALTE ... Algorithm #Causes #Peds