RESUMO
Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas-de-Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post-information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas-de-Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.
Assuntos
Triagem Neonatal , Pais , Traço Falciforme , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Estudos Retrospectivos , França/epidemiologia , Feminino , Pais/psicologia , Masculino , AdultoRESUMO
Objetivo: Determinar el riesgo de los pacientes pediátricos con insuficiencia renal crónica terminal en programa de diálisis peritoneal continua ambulatoria (DPCA), portadores de Staphylococcus aureus (SA) en nariz, manos o sitio de salida del catéter, para desarrollar episodio de peritonitis causado por una cepa idéntica. Métodos: Estudio longitudinal en un centro de DPCA perteneciente a un hospital pediátrico de tercer nivel. Al ingresar al estudio se tomaron cultivos de las narinas, sitio de salida del catéter y manos, de 29 pacientes vigilados por un periodo promedio de 369 ± 80 días (de 224 a 516 días), y de las narinas y manos de sus madres. Las cepas de SA aisladas se conservaron en glicerol BHI a 20°C para análisis posterior. Los episodios de peritonitis se monitorearon y registraron. Cuando se aisló una cepa de SA del líquido de diálisis efluente se comparó con la previa identificada por electroforesis en gel de campos pulsados. Resultados: Se presentaron siete episodios de peritonitis causados por SA en seis pacientes, uno de los cuales era portador previo de la misma cepa en la nariz y dos en el sitio de salida del catéter. El riesgo relativo de desarrollar un episodio de peritonitis causado por una cepa preexistente localizada en el sitio de salida del catéter fue de 0.948, y de 0.525 por una cepa preexistente localizada en la nariz. Conclusiones: Los portadores de SA no parecen tener riesgo más alto de desarrollar peritonitis causada por una cepa de SA relacionada que los no portadores. No se sustenta la recomendación de monitorear el estado de portador nasal o en el sitio de salida del catéter en los pacientes tratados con DPCA. La conveniencia de erradicar el SA de la nariz o el sitio de salida del catéter también es cuestionable.
OBJECTIVE: To determine the risk of pediatric end stage renal disease patients undergoing continuous ambulatory peritoneal dialysis to develop a subsecuent peritonitis episode caused by an identical Staphylococcus aureus (SA) strain. METHODS: Longitudinal survey carried out in a CAPD center at the nephrology department of a tertiary care (reference) pediatric hospital. At recruitment, swabs were collected from the nares, exit site, and hands, respectively from 29 patients who were followed-up for a mean period of 369 +/- 80 days (range 224-516 days), and from the nares and hands of their mothers. Isolated SA strains were kept in BHI glycerol at -20 degrees C for subsequent analysis. Peritonitis episodes were monitored and registered. When a SA strain was isolated from the dialysate effluent it was compared with the preexisting strain by PFGE. RESULTS: We report 7 SA-mediated peritonitis episodes among 6 patients. Only one of these patients was a previous nasal carrier, and 2 were previous exit site carriers of the same SA strain. The relative risk of developing a peritonitis episode caused by a preexistent SA strain colonizing the exit site was 0.948. The relative risk of developing a peritonitis episode caused by a preexistent SA strain colonizing the nares was 0.525. CONCLUSIONS: SA carriers do not appear to be at higher risk of developing peritonitis by an SA related strain than non-carriers. Our results do not lend support to the recommendation of monitoring nasal or exit site carrier status in CAPD patients. The need of attempting to eradicate SA from nose or exit site is also questioned.