34 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
Causes of Pediatric Constipation - Differential Diagnosis Algorithm
Dietary / Functional:
 • Insufficient Volume / Bulk
Neurologic:
 •
Causes of Pediatric ... - Differential Diagnosis ... Guillain-Barré Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
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
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
- Differential Diagnosis ... Arrhythmia • Neurologic ... Sudden Infant Death Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
THE LIMPING OR NON-WEIGHT BEARING CHILD PATHWAY

RED FLAGS - In all cases there are specific
markers which
splenomegaly, abnormal neurology ... cell disease Rheumatology ... Pathway #Child #Peds ... #Pediatrics #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
Posterior Reversible Encephalopathy Syndrome (PRES) - Diagnosis
Clinical Features:
 • Altered mental status (Either lethargy, confusion, or
Encephalopathy Syndrome ... Clinical Features ... Immunomodulatory meds ... Risk Factor + Clinical ... #Diagnosis #Neurology
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
- Differential Diagnosis ... Metabolism • Reye's Syndrome ... Disturbances Neurologic ... Algorithm #Causes #Peds ... #Pediatrics
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 ... Erythematosus #SLE #CNS #neurology ... #rheumatology #