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diagnosis genetics pediatrics peds 21hydroxylasedeficiency 21ohd amyotrophic causes differential edema endocrinology lateral management ncpe neurology noncardiogenic praderwilli sclerosis syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... , sleep apnea, cor ... pulmonale #PraderWilli
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 ... vomiting • Late (shock ... ): cold & mottled ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework High Altitude Pulmonary Edema: • Accumulation
some red blood cells ... respiratory failure or ARDS ... • Signs/Symptoms ... • Signs/Symptoms ... - The classic signs
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... fasciculations Common Symptoms ... EMG: LMN Signs in
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