Pediatrics
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We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p. ⋯ An unusual feature of this case was that the patient's cardiac failure developed during early childhood with no delay of gross motor milestones. The use of a β-blocker did not improve his clinical course, and the patient died 6 months after diagnosis of dilated cardiomyopathy. Congenital nonprogressive nemaline myopathy is not necessarily a benign disorder: deterioration can occur early in the course of dilated cardiomyopathy with neuromuscular disease, and careful clinical evaluation is therefore necessary.
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To investigate the demographic and clinical factors of children who present to the pediatric emergency department (ED) with abdominal pain and their outcomes. ⋯ Constipation is the most common diagnosis in children presenting with abdominal pain. Our data demonstrate that no racial differences exist in the evaluation, treatment, and disposition of children with abdominal pain.
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Treatment of the large patent ductus arteriosus (PDA) in the setting of pulmonary hypertension (PH) is challenging. Left patent, the large PDA can result in irreversible pulmonary vascular disease. Occlusion, however, may lead to right ventricular failure for certain patients with severe PH. ⋯ A staged approach to PDA closure for patients with severe PH is an effective treatment paradigm. Aggressive treatment of PH creates a window of opportunity for PDA occlusion, echocardiography assists in identifying the timing for closure, and balloon test occlusion during cardiac catheterization is critical in determining safety of closure. By safely eliminating the large PDA, this treatment algorithm can halt the perilous combination of the large shunting from the PDA and PH in a population at high risk of morbidity and mortality.