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diagnosis differential genetics pathophysiology pediatrics 21ohd algorithm bronchiectasis cardiology chf clinical criticalcare endocrinology foamed heartfailure icu management pharmacology praderwilli table
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Signs/Symptoms ... , sleep apnea, cor ... pulmonale #PraderWilli ... 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 ... a scrotum #21HydroxylaseDeficiency ... endocrinology #peds
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
obstruction • COPD ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome ... Nasal polyps and signs ... Physical stigmata of cor
It is important to recognize Acute Decompensated Heart Failure (ADHF) as more than just simply a
with presence of pulmonary ... non-congested profile (“Cold ... and congested (“Cold ... essentially Cardiogenic Shock ... acute coronary syndrome
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