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peds management 21hydroxylasedeficiency 21ohd acs algorithm aortic causes chestpain definitions differential ebm endocrinology examination fallot fever hematology hemeonc hemophagocytic hlh
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
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #management #cardiology ... #peds #pediatrics
Acute Coronary Syndrome (ACS) Definitions - Stable Angina, Unstable Angina, NSTEMI, STEMI 1 STABLE ANGINA - Angina
Acute Coronary Syndrome ... , Unstable Angina ... in injury and infarct ... transmural injury and infarct ... #Diagnosis #Cardiology
ISCHEMIA Trial - Management Algorithm for patients with Stable Angina Stress Test -> ? +moderate or severe
patients with Stable Angina ... Catheterization with intent ... acute coronary syndrome ... #ChestPain #Diagnosis ... Management #Algorithm #Cardiology
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
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
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... patients with the HLH syndrome ... Familial) HLH: - Genetic ... Onset: Usually in infancy ... Pathophysiology
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... median age of onset ranging ... The diagnosis of ... neutropenia (CyN) This genetic ... #Diagnosis
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