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2.
Pediatr Emerg Care ; 38(2): e828-e832, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35100783

RESUMO

OBJECTIVES: Recent work has questioned the accuracy of the Injury Severity Score (ISS) and the Abbreviated Injury Scale (AIS) in the pediatric population. We sought to determine mortality rates in pediatric trauma patients at ISSs considered "severe" in adults and whether mortality would vary substantially between adults and children sustaining injuries with the same AIS. METHODS: Univariate logistic regression was used to generate mortality rates associated with ISS scores, for children (<16 years of age) and adults, using the 2016 National Trauma Data Bank. Mortality rates at an ISS of 15 were calculated in both groups. We similarly calculated ISS scores associated with mortality rates of 10%, 25%, and 50%. Receiver operating characteristic curves were constructed to compare the discriminative ability of ISS to predict mortality after blunt and penetrating injuries in adults and children. Mortality rates associated with 1 or more AIS 3 injuries per body region were defined. RESULTS: There were 855,454 cases, 86,414 (10.1%) of which were children. The ISS associated with 10%, 25%, and 50% mortality were 35, 44, and 53, respectively, in children; they were 27, 38, and 48 in adults. At an ISS of 15, pediatric mortality was 1.0%; in adults, it was 3.1%. A 3.1% mortality rate was not observed in children until an ISS of 25. On receiver operating characteristic analysis, the ISS performed better in children compared with adults (area under the curve, 0.965 vs 0.860 [P < 0.001]). Adults consistently suffered from higher mortality rates than did children with the same number of severe injuries to a body region, and mortality varied widely between specific selected AIS 3 injuries. CONCLUSIONS: Although the ISS predicts mortality well, children have lower mortality than do adults for the same ISS, and therefore, the accepted definition of severe injury is not equivalent between these 2 cohorts. Mortality risk is highly dependent on the specific nature of the injury, with large variability in outcomes despite identical AIS scores.


Assuntos
Ferimentos Penetrantes , Escala Resumida de Ferimentos , Adulto , Criança , Humanos , Escala de Gravidade do Ferimento , Valor Preditivo dos Testes , Curva ROC
3.
J Pediatr ; 166(4): 1048-54.e1-5, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25681199

RESUMO

OBJECTIVES: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). STUDY DESIGN: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n = 31) from Seattle Children's Hospital. RESULTS: Most individuals from Boston Children's Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), fibro-adipose vascular anomaly (5/8), and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (31/33) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ∼ 80% of cases. Seventy-four percent of patients with LM from Seattle Children's Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. CONCLUSIONS: Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.


Assuntos
Anormalidades Múltiplas , DNA/genética , Síndrome de Klippel-Trenaunay-Weber/genética , Anormalidades Linfáticas/genética , Mutação , Fosfatidilinositol 3-Quinases/genética , Malformações Vasculares/genética , Criança , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Síndrome de Klippel-Trenaunay-Weber/metabolismo , Anormalidades Linfáticas/diagnóstico , Anormalidades Linfáticas/metabolismo , Masculino , Fosfatidilinositol 3-Quinases/metabolismo , Reação em Cadeia da Polimerase , Malformações Vasculares/diagnóstico , Malformações Vasculares/metabolismo
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