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diagnosis peds genetics management treatment 21hydroxylasedeficiency 21ohd acromegaly alzheimersdisease aortic aorticvalve baby bicuspid congenital dementia diagram differential fallot floppy fontan
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... diagnosis #management #cardiology ... #peds #pediatrics
Aortic Stenosis & Bicuspid Aortic Valve (AS) • Introduction & Pathophysiology • Classifications • Epidemiology •
Introduction & Pathophysiology ... Epidemiology • Clinical ... #AorticValve #cardiology ... #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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Floppy Baby Syndrome • Infantile Botulism • Acute Flaccid Myelitis • Guillain Barre • Neonatal Myasthenia
Floppy Baby Syndrome ... • Infantile Botulism ... Myasthenia Gravis Clinical ... #Floppy #Baby #Syndrome ... #pediatrics #differential
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology
Fontan Procedure Schematic A Fontan is done in most children (approximately 90%) who effectively have a single
or a congenital syndrome ... Diagram #congenital #Cardiology ... #Peds #Pediatrics ... #Pathophysiology
Retinoblastoma - MRI • Most common intra-ocular neoplasm in children. • Clinical Presentation: leukocoria (loss of
• Clinical Presentation ... bone marrow and liver ... neuroradiology #pediatrics ... #radiology
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