18 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
Tetralogy of Fallot Summary ... • Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Alzheimer's Disease ... • Pathophysiology ... Treatment • Clinical ... #Summary #diagnosis ... #management #geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... and Management Summary ... extrapulmonary cases Clinical ... decreased reflexes Pathophysiology ... #Management #Summary
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
asymptomatic at diagnosis ... CHOLANGITIS - Genetic ... Care focuses on symptom ... remain subject to clinical ... #management #summary