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diagnosis symptoms genetics peds 21hydroxylasedeficiency alzheimersdisease caudaequina dementia endocrinology geriatrics management praderwilli refeeding sarcoidosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
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 ... 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 / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... #CaudaEquina #Syndrome ... #MSK #pathophysiology
Refeeding Syndrome: Pathogenesis and clinical findings Patients at Risk of Refeeding Syndrome: - Little or no nutritional
Refeeding Syndrome ... PO4 and Mg into cells ... Constipation - MSK ... #diagnosis #pathophysiology ... #symptoms #signs
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... tissue: Epithelioid cells ... anterior/posterior MSK ... • Heerfordt syndrome ... Diagnosis #Management #Signs
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