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pediatrics diagnosis differential genetics pathophysiology 21hydroxylasedeficiency 21ohd bronchiectasis endocrinology hyperpnea infant physicalexam praderwilli signs syndrome tachypnea
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
from dehydration ... urine output Cold ... #PhysicalExam #Signs ... #Symptoms #Shock ... #Peds #Pediatrics
Tachypnea - Differential Diagnosis Framework Definitions • Tachypnea: Respiratory rate > 20/min, shallow breathing in adults •
20/min, shallow breathing ... > 20/min, deep breathing ... • Asthma • COPD ... Salicylate poisoning, dehydration ... • Hypovolemic shock
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 ... pathophysiology #peds
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 ... endocrinology #peds
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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