15 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... and Differential ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology ... #Differential #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... DevelopmentalDelay #Differential ... Algorithm #Causes #Peds
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Causes of Male Infertility ... - Differential ... High FSH/LH: • Genetic ... torsion #Male #Infertility ... #Differential #
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology