6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... pulmonale #PraderWilli ... #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Falot on Chest X-Ray
Tetralogy of Falot comprises four defects -
1. Ventricular septal defect (VSD)
2.
boot shaped heart caused ... along with concave Pulmonary ... #Chest #XRay #CXR ... #clinical #radiology ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
extrapulmonary cases ... Clinical Signs ... of active pulmonary ... decreased reflexes Pathophysiology ... tissue damage - CXR
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... are not caused ... e.g. incidental CXR ... anterior/posterior MSK
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
Risk factors: Critical ... without other cause ... ARDS to explain symptoms ... fluid balance, and CXR ... with pulmonary