5 results match your criteria: "The National Center for Newborn Screening[Affiliation]"
The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.
Clin Endocrinol (Oxf)
May 2020
The National Center for Newborn Screening, Ministry of Health, Tel-HaShomer, Israel.
Objective: To assess the clinical and neurological outcomes in newborns with primary congenital hypothyroidism presented with delayed TSH elevation (dTSH), and to define parameters that may predict the evolution of transient vs. permanent hypothyroidism in these newborns.
Design And Patients: An observational study was performed of a cohort of 113 children with a history of dTSH.
Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With Mutation.
Front Immunol
September 2020
The National Lab for Diagnosing SCID - The Israeli Newborn Screening Program, Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, Israel Ministry of Health, Tel HaShomer, Israel.
The alpha subunit of IL-7 receptor (IL7R7α) is critical for the differentiation of T cells, specifically for the development and maintenance of γδT cells. Mutations in are associated with Severe Combined Immunodeficiency (SCID). Infants with deficiency can be identified through newborn screening program.
View Article and Find Full Text PDFMHC II deficient infant identified by newborn screening program for SCID.
Immunol Res
August 2018
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), using the TREC-based assay, have enabled early diagnosis, prompt treatment, and eventually changed the natural history of affected infants. Nevertheless, it was believed that some affected infants with residual T cell, such as patients with MHC II deficiency, will be misdiagnosed by this assay. A full immune workup and genetic analysis using direct Sanger sequencing and whole exome sequencing have been performed to a patient that was identified by the Israeli NBS program for SCID.
View Article and Find Full Text PDFFirst Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Front Immunol
November 2017
Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Article Synopsis
- Severe combined immunodeficiency (SCID) can be detected in newborns through T cell receptor excision circle (TREC) quantification from dried blood spots, and Israel's first year of SCID newborn screening diagnosed 8 cases, indicating a prevalence of 1 in 22,500 births.
- The study found associations between consanguineous marriages, Muslim ethnic origin, and SCID occurrence, along with the emergence of a founder effect for specific SCID types.
- Findings revealed that TREC levels increase with gestational age and birth weight; for extremely premature infants, adjustments to screening thresholds are necessary to reduce false positives, with a notable rise in TREC values observed between 28 and 30 weeks of gestation
Characteristics of Delayed Thyroid Stimulating Hormone Elevation in Neonatal Intensive Care Unit Newborns.
J Pediatr
November 2016
The National Center for Newborn Screening, Ministry of Health, Tel-HaShomer, Israel.
Objectives: To elucidate the incidence, clinical characteristics, and short-term outcome of delayed thyroid stimulating hormone (TSH) elevation (dTSH) in a large cohort of newborns admitted to the neonatal intensive care unit.
Study Design: Data were gathered from a cohort of 13 201 newborns admitted to the neonatal intensive care unit born between January 1, 2008, and October 31, 2014, who underwent TSH measurements because of low T4 levels on the second screen. The data from the newborn screening program included gestational age, birth weight (BW), T4 levels, and short-term outcome.