5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... sleep apnea, cor pulmonale ... #genetics #pathophysiology ... #peds #pediatrics
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
Congenital Long QT Syndrome ... live births Symptoms ... noises or emotional stress ... family history) Treatment ... #Diagnosis #Cardiology
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome ... Nasal polyps and signs ... mycobacteria Treatment
Amiodarone Induced Lung Toxicity Summary

Who?
• 5% of patients
• Dose ≥ 400 mg per day

How?  Possible
starting amiodarone treatment ... syndrome) is rare ... gradually with symptoms ... opacities; traction bronchiectasis ... Improvement in symptoms
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... /SYMPTOMS: • Acute ... , neoplastic) TREATMENT ... diagnosis #management #pulmonary