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diagnosis differential genetics management pediatrics peds 21hydroxylasedeficiency 21ohd amyotrophic anorexianervosa cryofibrinogenemia endocrinology hematology lateral manifestations myelitis neurological praderwilli psychiatry rheumatology
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
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
occur in utero as ... • This is also ... Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology
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
Cryofibrinogenemia Summary Cryofibrinogenemia Epidemiology: • 40-70 years with a modest female predominance Cryofibrinogenemia: • The precipitation of a
Cryofibrinogen is a cold ... - Albumin - Cold ... Cryofibrinogenemia Symptoms ... may include: • Cold ... thrombophlebitis, pulmonary
Anorexia Nervosa: Complications CARDIAC ABNORMALITIES - Functional: Low BP, Sinus bradycardia, prolonged QT interval - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... Hypothermia and Cold ... mortality rates of all ... #pathophysiology ... diagnosis #signs #symptoms
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