5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical findings ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... #Syndrome #genetics ... pathophysiology #peds
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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#LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Findings #Diagnosis ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical Findings ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
e.g. incidental CXR ... finding) ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... Diagnosis #Management #Signs
Community Acquired Pneumonia (CAP) - Diagnosis and Management

Pneumonia Signs/Symptoms:
 • Confusion/disorientation (LR + 1.9)
 • Cough
Management Pneumonia Signs ... /Symptoms: • Confusion ... • Auscultatory findings ... Yield of blood CX ... Management #treatment #Pulmonary