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1.
Am J Med Genet A ; 167A(11): 2755-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26177838

RESUMO

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys, lungs, and eyes. The skeletal system is commonly affected in patients with TSC, but these bone lesions are generally asymptomatic and have not been well characterized. We present clinically significant bone growth in two ribs and vertebrae in an 8-year-old male patient with TSC and discuss the effects of mammalian target of rapamycin (mTOR) inhibitors as a possible treatment for these osseous abnormalities. This report suggests that skeletal lesions may hold more clinical significance than previously assumed and that further research should be directed toward understanding bone involvement in TSC.


Assuntos
Displasia Fibrosa Óssea/complicações , Costelas/anormalidades , Coluna Vertebral/anormalidades , Esclerose Tuberosa/complicações , Criança , Displasia Fibrosa Óssea/diagnóstico por imagem , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Radiografia , Costelas/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Esclerose Tuberosa/diagnóstico por imagem
2.
J Pediatr Surg ; 38(10): 1525-9, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14577080

RESUMO

BACKGROUND/PURPOSE: Evidence indicates that young adults are at significant risk for powered personal watercraft (PWC)-related injuries. This article examines the nature of PWC injuries sustained in the pediatric population over a 10-year period. METHODS: Retrospective analysis was conducted of trauma registry charts on 66 pediatric patients, aged 5 to 19 years, hospitalized for PWC-related injuries between 1990 and 1999. The keywords PWC and Jet Ski were used to extract anonymous data from the National Pediatric Trauma Registry, which then were analyzed using descriptive statistics. RESULTS: The most common mechanism of injury was a collision with another PWC, a boat, or a fixed object (70%). A total of 55.1% of all the injury diagnoses involved the head, face, and/or neck, and 72.7% of the injuries occurred to the operator of the PWC. A total of 83.3% of the patients required at least 1 surgical procedure, and 42.2% required admission to the intensive care unit. Four children (6.1%) died, and 28 (42.4%) of the children had disabilities as a consequence of the injury. CONCLUSIONS: Operation of PWCs can result in severe injures, death, and long-term disability in the pediatric population. Possible safety recommendations include minimum age regulations, operator training, operating regulations, design improvements, and required helmet use.


Assuntos
Causas de Morte , Recreação , Ferimentos e Lesões/classificação , Ferimentos e Lesões/epidemiologia , Acidentes , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Sistema de Registros/estatística & dados numéricos , Estudos Retrospectivos , Distribuição por Sexo , Navios , Taxa de Sobrevida , Índices de Gravidade do Trauma , Resultado do Tratamento , Estados Unidos/epidemiologia , Ferimentos e Lesões/cirurgia
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