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Genomic newborn screening for rare diseases
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve outcomes, timely diagnosis and effective treatments are...
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Perception of genomic newborn screening among peripartum mothers
Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening...
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Identification of maternal attitudes and knowledge about newborn screenings: a Turkey sample
This study was planned to determine maternal attitudes and knowledge about newborn screening. The universe of the descriptive study consisted of...
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Effect of Adrenoreceptor Stimulation on Peptidergic Regulation of Cardiac Activity in Newborn Rats
We studied the effect of adrenoreceptor stimulation on the frequency of spontaneous activity and amplitude-time parameters of isometric contraction...
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Australian public perspectives on genomic newborn screening: which conditions should be included?
BackgroundImplementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions...
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Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening
Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless...
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Features of Spleen Development in Newborn Rats Exposed to Endocrine Disrupter Dichlorodiphenyltrichloroethane during the Prenatal Period
The development of the spleen in newborn male Wistar rats exposed to low-dose endocrine disruptor dichlorodiphenyltrichloroethane during the prenatal...
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase...
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Imp is expressed in INPs and newborn neurons where it regulates neuropil targeting in the central complex
The generation of neuronal diversity remains incompletely understood. In Drosophila, the central brain is populated by neural stem cells derived from...
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In vivo adenine base editing corrects newborn murine model of Hurler syndrome
Mucopolysaccharidosis type I (MPS I) is a severe disease caused by loss-of-function mutation variants in the α-L-iduronidase ( Idua ) gene. In vivo...
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The Analysis of Pethidine Pharmacokinetics in Newborn Saliva, Plasma, and Brain Extracellular Fluid After Prenatal Intrauterine Exposure from Pregnant Mothers Receiving Intramuscular Dose Using PBPK Modeling
Background and ObjectivePethidine (meperidine) can decrease labor pain-associated mother’s hyperventilation and high cortisol-induced newborn...
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Usefulness of large beam-sha** filters at different tube voltages of newborn chest CT
Background: To investigate optimizing the use of different beam sha** filters (viz. small, medium and large) when using different tube voltages...
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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor...
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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a...
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Mothers’ knowledge and attitudes about newborn screening in Jordan
Newborn screening is an important public health program that helps save the lives of many infants worldwide. The aim of this cross-sectional...
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Experiences of cystic fibrosis newborn screening and genetic counseling
The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genoty** for babies with top 4%...
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Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been introduced in various countries with the aim of reducing morbidity and...
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic...
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Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study
Whole Genome Sequencing (WGS) in newborn screening is ethically complex. Parents will provide proxy consent for initial participation and...
