American journal of diseases of children (1911)
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We conducted restriction fragment length polymorphism and methylation pattern analyses on 26 typical and atypical patients with Prader-Willi syndrome who did not have a cytogenetically detectable 15q11-13 deletion and on four patients who did have this deletion and were clinically atypical. Maternal disomy for chromosome 15 was identified in 12 patients and paternal deletions in 15q11-13 were found in three cases. Patients with chromosome 15 abnormalities had typical or near typical presentations, based on published diagnostic criteria. ⋯ Patients with maternal disomy had advanced maternal age, suggesting that nondisjunction is part of the etiology of uniparental disomy. This study suggests that molecular diagnosis is critical in patients with Prader-Willi syndrome who appear clinically atypical or who lack a cytogenetically detectable 15q deletion. Methylation pattern analysis is a useful adjunct diagnostic tool for Prader-Willi syndrome.
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Diagnostic test ordering in the evaluation of febrile children. Physician and environmental factors.
To assess the independent effects of physician and environmental factors on test ordering. ⋯ Attending staff, trainee, and seasonal effects on test ordering have important implications for febrile children and their families, for clinical training and supervision, and for health care costs.
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Letter Review Case Reports
Cardiac injury from an air gun pellet: a case report.
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To determine if corticosteroids administered in addition to antimicrobials improve survival in children with acquired immunodeficiency syndrome and severe Pneumocystis carinii pneumonia (PCP). ⋯ Corticosteroids administered in addition to antimicrobials and supportive care improve the short-term survival of HIV-infected children who have acute respiratory failure due to PCP.