18 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Primary Biliary ... female-predominant disease ... DNA methylation Genetic ... of autoimmune disease ... #hepatology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
Primary Biliary ... 65 years PBC Pathophysiology ... failure PBC Signs ... but elevated as disease ... diagnosis #workup #hepatology
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... While the pathophysiology ... despite severe disease ... #PhysicalExam #Pediatrics ... #Peds
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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features of Liver Disease ... #LiverFailure #Signs ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
The 6 C’s of Primary ... CHOLANGITIS - Genetic ... management. ... AutoImmuneLiver #PSC #Primary ... #summary #Hepatology