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diagnosis differential genetics management neurology pediatrics peds 21hydroxylasedeficiency 21ohd als amyotrophic bronchiectasis edema endocrinology lateral myelitis ncpe noncardiogenic praderwilli sclerosis
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
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
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... • Infectious causes
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
Chronic inflammation causes ... inflammation Symptoms ... Most Common Causes ... obstruction • COPD ... Nasal polyps and signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... vomiting • Late (shock ... ): cold & mottled ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... - Causes progressive ... fasciculations Common Symptoms ... Escorial criteria uses
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