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diagnosis differential genetics management pediatrics peds 21hydroxylasedeficiency als amyotrophic anorexianervosa endocrinology evaluation falls geriatrics lateral manifestations myelitis neurological praderwilli psychiatry
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Syndrome Signs/Symptoms ... /Complications: ... , sleep apnea, cor ... pulmonale #PraderWilli
Neurological Manifestations of Tuberculosis Spinal Arachnoiditis & Polyradiculopathy: • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
meninges in spinal cord ... nerve roots Spinal Cord ... lymphadenopathy, pulmonary ... • Usually is a complication ... Children with pulmonary
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... to the spinal cord ... Bilateral signs and/or symptoms ... diagnosis #management #neurology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... - Microglial cells ... multiple spinal cord ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology
Anorexia Nervosa: Complications CARDIAC ABNORMALITIES - Functional: Low BP, Sinus bradycardia, prolonged QT interval - Structural: Reduced
Anorexia Nervosa: Complications ... / Hypovolemia NEUROLOGIC ... Hypothermia and Cold ... #pathophysiology ... diagnosis #signs #symptoms
Evaluation of Recurrent Falls Core Concept: Maintaining an upright posture requires the integrated function of multiple systems. Disruption in
Recurrent Falls Core ... cardiogenic) - Pulmonary ... presyncope, exertional symptoms ... ) - Spinal cord ... Evaluation #Geriatrics #Neurology
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