NEW DEVELOPMENTS IN NEONATAL SCREENING. The French national newborn screening program (NBS) celebrated its 50th anniversary in 2022. A few drops of blood are drawn between 48 and 72 hours of life for each newborn on a filter paper and entrusted to a Regional Center for Newborn Screening, which analyses it diligently. When the result is beyond a threshold, the baby and its parents are summoned to a specialized paediatric department. If the suspected disease is confirmed, specific care can be started in time to avoid or limit a disability. Each year, nearly 1.000 sick children are diagnosed by NBS in France, and treated in a specialized hospital team. The 2018 National Rare Disease Plan has relaunched the NBS process. Until then, 7 diseases whose hearing loss were detected. Since then, 7 other diseases have been added to the program, and others were recommended or are being assessed, opening a new page in the history of NBS in France.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Patient and public involvement in neonatal research - experiences and insights from parents and researchers.
Res Involv Engagem
January 2025
Department of Public Health, Faculty of Health, Aarhus University, Aarhus, Denmark.
Background: Involving parents in decisions about the care of their infant is common practice in most neonatal intensive care units. However, involvement is less common in neonatal research and a gap appears to exist in understanding the process of patient and public involvement. The aim of this study was to explore parents and researchers' experiences of patient and public involvement in a neonatal research project.
View Article and Find Full Text PDFEpidemiology of respiratory viruses according to age group, 2023-24 winter season, Kyoto, Japan.
Sci Rep
January 2025
Department of Clinical Laboratory Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
The seasonality and epidemiology of viral acute respiratory infections (ARIs) have changed since the coronavirus disease 2019 pandemic. However, molecular-based ARI surveillance has not been conducted in Japan. We developed a regional surveillance program to define the local epidemiology of ARIs.
View Article and Find Full Text PDFIntegration of Immune Responses and Transcriptomic Signatures Reveals the Efficacy of Maternal Genetic Vaccination in a Pregnant Model and Its Neonates.
Immunology
January 2025
Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, Huazhong Agricultural University, Wuhan, China.
Maternal vaccination is essential for safeguarding both mother and foetus from infectious diseases. This study investigated the immunogenicity and efficacy of a maternal ORF-B2L genetic vaccine in a pregnant rat model, focusing on maternal-neonatal immune modulation, placental and neonatal spleen transcriptomics and the underlying mechanisms contributing to neonatal immune development. Female rats received intramuscular injections of either a gene vaccine (GV) containing 200 μg of recombinant ORF-B2L DNA and 50 μg of a subunit protein or an empty plasmid as a control.
View Article and Find Full Text PDFImproving the evaluation of non-accidental trauma across multiple specialties at a single institution.
BMJ Open Qual
January 2025
Inova Fairfax Medical Campus, Falls Church, Virginia, USA.
Background: Based on the presenting injury, patients undergoing abuse evaluation may be managed by different specialties. Our local child abuse specialist expressed concern over the variability in evaluation of patients presenting with injuries concerning for non-accidental trauma (NAT). The aim of this quality improvement project was to increase the percentage of patients for whom there is a concern for NAT who receive a guideline-adherent evaluation from 7.
View Article and Find Full Text PDFUsing a novel smartphone app to track noise and vibration exposure during neonatal ambulance transport.
Arch Dis Child Fetal Neonatal Ed
January 2025
Centre for Perinatal Research, University of Nottingham, School of Medicine, Nottingham, UK
Objective: To assess the utility of a bespoke smartphone app to map noise and vibration exposure across neonatal road ambulance journeys.
Design And Setting: Prospective observational study of ambulance journeys across a large UK neonatal transport service. Smartphones, with an in-house developed app, were secured to incubator trolleys to collect vibration and noise data for comparison with international standards.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!