18 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Major Depressive Disorder (MDD): Pathogenesis and Clinical Findings

Symptoms (included in DSM 5 criteria) - Present during
Clinical Findings Symptoms ... included in DSM 5 criteria ... MoodDisorders #Diagnosis #Pathophysiology ... #Signs #Symptoms ... #Psychiatry
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
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
have either 26 symptoms ... 2 settings - Symptoms ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry ... #criteria
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... and behavioural/psychiatric ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... Psychological Symptoms ... BehavioralDisorder #Pathophysiology ... #diagnosis #symptoms ... #signs #psychiatry