6 results
diagnosis symptoms genetics peds 21hydroxylasedeficiency 21ohd acute alzheimersdisease bulimianervosa caudaequina dementia geriatrics injury orthopedics praderwilli psychiatry spinalcord syndromes
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... 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
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #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 / 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
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... > Amenorrhea & Infertility ... #pathophysiology ... #diagnosis #signs
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