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Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination(More)
Pyomyositis is most often associated with Staphylococcus aureus infections after trauma. We describe an unusual presentation of pyomyositis of the chest wall secondary to group A betahemolytic streptococcus infection in a 15-month-old child with acute abdominal symptoms. In addition, the patient had no history or evidence of trauma to the affected area.(More)
Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we compared the clinical, biochemical, and molecular features of 10 patients with mildly elevated citrulline levels. Three patients(More)
BACKGROUND The recent use of spiral computed tomography (CT) without contrast for the diagnosis of acute flank pain has been shown to be highly sensitive and specific for the detection of urolithiasis. This method has not, however, been evaluated for its contribution to savings in management costs. The present study aims to evaluate the cost savings gained(More)
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary(More)
Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although it is considered essential, deficiency has not been linked to disease. Despite the large mass of DHA in phospholipids, the brain does not synthesize it. DHA is imported across the blood-brain barrier (BBB) through the major facilitator superfamily domain-containing 2a(More)
OBJECTIVES To describe our experience using propofol sedation to facilitate elective diagnostic and therapeutic procedures, and to document the safety profile of propofol in this setting. DESIGN Retrospective consecutive case series and review of the literature. SETTING Pediatric intensive care unit of a United States Navy tertiary care medical center.(More)
Reflex sympathetic dystrophy, a painful syndrome involving an extremity after trauma or injury, is increasingly reported in the pediatric population. Although no clear pathophysiologic mechanism for this disorder has been identified, the role of central serotonin activity seems important. Gabapentin, a new antiepileptic medication, has been demonstrated to(More)
INTRODUCTION Acne vulgaris is one of the most common skin conditions in children and adolescents. The presentation, differential diagnosis, and association of acne with systemic pathology differs by age of presentation. Current acknowledged guidelines for the diagnosis and management of pediatric acne are lacking, and there are variations in management(More)
Autism spectrum disorders (ASDs) are a group of heterogeneous neurodevelopmental disorders that show impaired communication and socialization, restricted interests, and stereotypical behavioral patterns. Recent advances in molecular medicine and high throughput screenings, such as array comparative genomic hybridization (CGH) and exome and whole genome(More)