21 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
Brain tumors in children – clinical features and common presentations by location- 

#Common #Brain #Tumors #Cancer
in children – clinical ... Tumors #Cancer #Pediatrics ... Presentations #Diagnosis ... #Peds #Pediatrics ... #Oncology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... • Radiologic/Diagnostic ... AorticValve #cardiology #peds ... #pediatrics
Osteosarcoma 
Most common primary malignant bone tumor in children 
Most Common Sites of Involvement:
1. Distal femur
proximal femur Clinical ... #Osteosarcoma #Diagnosis ... #Features #Oncology ... #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
Monoclonal Gammopathy of Clinical Significance (MGUS) - Differential Diagnosis

Neurologic-Centered:
 (+) Systemic Features: POEMS, AL amyloid, Cryoglobulinemia
Gammopathy of Clinical ... - Differential Diagnosis ... capillary leak syndrome ... • Schnitzler syndrome ... #hematology #oncology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Differentiation #Syndrome ... #management #hematology ... #oncology
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