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diagnosis genetics neurology pediatrics peds 21hydroxylasedeficiency 21ohd amyotrophic comatose endocrinology lateral management physicalexam praderwilli sclerosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... delayed puberty -> Infertility ... , sleep apnea, cor ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
• This is also ... Signs/Symptoms/Complications ... Late (shock): cold ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... EMG: LMN Signs in ... conditions listed in differential
The Neurological Evaluation of a Comatose Patient Definition: • Coma: a state of unresponsiveness; the absence of
consciousness Differential ... • Locked-in syndrome ... • Mutism Pathophysiology ... dysfunction to the bilateral ... • Examine for signs
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