11 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds ... Table #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Neonatology #Peds ... #Table #NICU #Genetics
Urinary Tract Infection (UTI) - Predisposing risk factors

Iatrogenic/Drugs, Behavioral, Anatomic/Physiologic and Genetic

#Pathophysiology #UTI #UrinaryTract #Infection #RiskFactors
Predisposing risk factors ... Physiologic and Genetic ... #Pathophysiology ... UrinaryTract #Infection #RiskFactors
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
investigations Risk Factors ... not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Pigmentosa Biochemical Factors ... Biomechanical Factors ... • Rizutti's Sign ... #Keratoconus #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
tumor necrosis factor ... predisposition - Various genetic ... of complement factors ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Biological Risk Factors ... Gender: F > M • Genetics ... AnorexiaNervosa #pathophysiology ... #diagnosis #signs ... symptoms #psychiatry #RiskFactors
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
findings Social Factors ... abuse Biological Factors ... Neurotic personality Genetics ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs