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peds signs management psychiatry treatment 21hydroxylasedeficiency 21ohd algorithm alzheimersdisease angina anxiety aortic behavioraldisorder bulimianervosa causes chestpain complications dementia differential ebm
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... 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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
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 ... HLH signs and symptoms ... Diagnosis via genetic
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
ISCHEMIA Trial - Management Algorithm for patients with Stable Angina Stress Test -> ? +moderate or severe
Catheterization with intent ... with a stable symptom ... acute coronary syndrome ... Angina #ChestPain #Diagnosis ... Management #Algorithm #Cardiology
Panic Disorder: Pathogenesis and clinical findings Social Factors • Parenting and infant attachment • Childhood illness/abuse •
Parenting and infant ... Neurotic personality Genetics ... Psychological Symptoms ... BehavioralDisorder #Pathophysiology ... #diagnosis #symptoms
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
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
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