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genetics peds 21hydroxylasedeficiency 21ohd alzheimersdisease diagnosis feedbackloop geriatrics gh growthhormone pituitary praderwilli signs syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Growth Hormone: • Liver ... lipolysis Signs/Symptoms ... #FeedbackLoop #endocrinology ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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