19 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
algorithm #causes #pediatrics ... CongenitalAdrenalHyperplasia #diagnosis ... #comparison #treatment ... #Peds #Endocrinology ... #Adrenal #pathophysiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Multi-System Inflammatory Syndrome in Children (MIS-C) vs. Kawasaki Disease
CDC Case Definition for MIS-C;
 • < 21
Multi-System Inflammatory Syndrome ... MISC #Kawasaki #Comparison ... #diagnosis #peds ... #pediatrics #COVID19 ... #Inflammatory #Syndrome
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... • Radiologic/Diagnostic ... AorticValve #cardiology #peds ... #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #pharmacology #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Diagnosis of IgA Vasculitis (Henoch-Schönlein Purpura) - French Vasculitis Study Group 

1) Suggestive clinical manifestations
Diagnosis of IgA ... 1) Suggestive clinical ... individuals - Clinical ... #Rheumatology # ... Peds #Pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology