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peds management endocrinology 21hydroxylasedeficiency 21ohd acromegaly aortic causes differential examination fallot hematology hemophagocytic hlh lymphohistiocytosis newborn physicalexam praderwilli regurgitation tetralogy
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #peds #pediatrics ... #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... an underlying genetic ... frequently affects infants ... Diagnosis via genetic ... • Bicytopenia Treatment
Causes of Severe Aortic Regurgitation - Differential Diagnosis Acute: • Leaflet: Traumatic Rupture, Acute Infective Endocarditis, Acute
- Differential Diagnosis ... Chronic - Aorta: • Infxn ... Cogan's Disease • Genetic ... Ehlers-Danlos Syndrome ... #Causes #cardiology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
Newborn Infant - ... When the diagnosis ... paediatrician or geneticist ... Examination #Peds #Pediatrics ... #Diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Endocrinology #Treatment ... #Pathophysiology
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