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genetics pathophysiology pediatrics peds 21hydroxylasedeficiency bronchiectasis diagnosis differential endocrinology praderwilli syndrome
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... ): cold & mottled ... #21HydroxylaseDeficiency #21OHD
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
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... obstruction • COPD ... Nasal polyps and signs ... Physical stigmata of cor ... the airway • Treating
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