Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros











Base de dados
Intervalo de ano de publicação
1.
Sci Rep ; 11(1): 19922, 2021 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-34620959

RESUMO

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.


Assuntos
Atrofia Muscular Espinal/epidemiologia , Triagem Neonatal , Bélgica/epidemiologia , Gerenciamento Clínico , Suscetibilidade a Doenças , Predisposição Genética para Doença , Humanos , Incidência , Recém-Nascido , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/etiologia , Atrofia Muscular Espinal/terapia , Programas Nacionais de Saúde , Avaliação de Resultados em Cuidados de Saúde , Vigilância em Saúde Pública , Encaminhamento e Consulta , Fluxo de Trabalho
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA