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All-Cause and Cause-Specific Mortality in Children With Congenital Zika Syndrome in Brazil.
JAMA Netw Open
January 2025
Center of Data and Knowledge Integration for Health, Gonçalo Moniz Institute, Oswaldo Cruz Foundation, Salvador, Bahia, Brazil.
Importance: Congenital Zika syndrome (CZS) can lead to a range of developmental and neurological issues, which increases the risk of early death. However, the all-cause and cause-specific mortality in children with CZS in the first 5 years of life remain unknown.
Objective: To compare the hazard of all-cause and cause-specific mortality before age 5 years among children with and without CZS in Brazil.
The Training and Evaluation of the "Dual-Index" Screening Method for Neonatal Congenital Heart Disease: A Multi-Center Study in China.
Int J Neonatal Screen
January 2025
Fujian Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital (Children's Hospital of Fudan University at Xiamen), Xiamen 361006, China.
Background: This study aimed to enhance the scope of neonatal congenital heart disease (CHD) screening by evaluating the effectiveness of training personnel in CHD screening using the "dual-index" method, combining pulse oximetry with cardiac murmur auscultation.
Methods: From 2019 to 2022, a total of 2374 screening personnel from the Xinjiang, Yunnan, Hainan, Fujian, and Anhui provinces underwent training in neonatal CHD screening using the "dual-index" method, which involves pulse oximetry and cardiac murmur auscultation. Pre- and post-training assessments were conducted using a neonatal CHD screening knowledge questionnaire, distributed through the Questionnaire Star platform, to evaluate the impact of the training.
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Int J Neonatal Screen
January 2025
Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.
View Article and Find Full Text PDFNewborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Int J Neonatal Screen
December 2024
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand to include IMDs that lack a reliable biochemical footprint in dried blood spots, while also reducing secondary findings. To be eligible for inclusion in NBS, an IMD needs to fulfill the Wilson and Jungner criteria, with treatability being one of the most important criteria.
View Article and Find Full Text PDFAdvances and applications of genome-edited animal models for severe combined immunodeficiency.
Zool Res
January 2025
Stomatological Hospital, School of Stomatology, Southern Medical University, Guangzhou, Guangdong 510280, China. E-mail:
Severe combined immunodeficiency disease (SCID), characterized by profound immune system dysfunction, can lead to life-threatening infections and death. Animal models play a pivotal role in elucidating biological processes and advancing therapeutic strategies. Recent advances in gene-editing technologies, including zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), CRISPR/Cas9, and base editing, have significantly enhanced the generation of SCID models.
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