Results 81 to 90 of about 3,396,540 (313)

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections [PDF]

, 2012
OBJECTIVES: Newborn screening for cystic fibrosis (CF) provides a model to investigate the implications of applying multiple-mutation DNA testing in screening for any disorder in a pediatric population-based setting, where detection of affected infants ...
Dorkin, Henry L., Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Dovey, Mark, Haver, Kenan, Zwerdling, Robert G., Comeau, Anne Marie, Waltz, David A., Lapey, Allen, Eaton, Roger B.   +10 more
core  

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

Philippine Journal of Pathology, 2018
Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methdology.
Emilio Villanueva III, Roel Martin Bumalay, John Michael Rivera   +2 more
doaj  

A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Heliyon, 2022
Background: To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China. Method: A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific ...
Xuefang Jia, Xiang Jiang, Yonglan Huang
doaj   +1 more source

Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus

FEBS Open Bio, EarlyView.
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima, Gustavo Narvaes Guimarães, Emilyane de Oliveira Santana Amaral, Bianca Caroline Figueiredo Bianco, Manuel Jara‐Espejo, Sérgio Roberto Peres Line, Ana Paula de Souza, Aline Cristiane Planello   +7 more
wiley   +1 more source

Newborn bloodspot screening adaptations to COVID-19 in New Zealand

, 2023
The New Zealand (NZ) national newborn bloodspot screening programme screens approximately 60,000 babies per year, with all testing occurring through a single laboratory.
Divanisova, Sandra, de Hora, Mark, Webster, Dianne, Heather, Natasha, Knoll, Detlef   +4 more
core  

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

International Journal of Neonatal Screening
Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel.
Alessandra Vasco, Clarissa Berardo, Simona Lucchi, Laura Cappelletti, Giulio Tamburello, Salvatore Fazzone, Alessia Mauri, Francesca Fiumani, Diana Postorivo, Luisella Alberti, Michela Perrone Donnorso, Serena Gasperini, Francesca Furlan, Laura Fiori, Stephana Carelli, Laura Assunta Saielli, Cristina Montrasio, Cristina Cereda   +17 more
doaj   +1 more source

Cell surface CD11c as a neutrophil aging marker molecule

FEBS Open Bio, EarlyView.
Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki, Fahd Alhamdan, Erik Malm, Marie Bermudez, Samuel Y. Kim, Koichi Yuki   +5 more
wiley   +1 more source

BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells

FEBS Open Bio, EarlyView.
BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
wiley   +1 more source

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance [PDF]

, 2018
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state ...
Kathryn Hassell, Susan R. Rose, Cynthia Hinton, Marci K. Sontag, Kupper A. Wintergerst, Ojodu, Jelili, Careema Yusuf, Rose, Susan R., Sikha Singh, Cynthia F. Hinton, Deboshree Sarkar, Smith-Whitley, Kim, Yusuf, Careema, Copeland, Sara, Parad, Richard, Lorenzo D. Botto, Marci K. Sontag, Cynthia F. Hinton, Sontag, Marci K., Singh, Sikha, Lorenzo D. Botto, Sara Copeland, Susan Rose, Hinton, Cynthia F., Anne M. Comeau, Botto, Lorenzo D., Comeau, Anne M., Kim Smith-Whitley, Jelili Ojodu, Marci Sontag, Anne M. Comeau, Richard Parad, Lorenzo Botto, Sarkar, Deboshree, Hassell, Kathryn, Kupper Wintergerst, Kupper A. Wintergerst, Susan R. Rose, Comeau, Anne Marie, Wintergerst, Kupper A., Anne Comeau   +40 more
core   +1 more source

Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China

Annals of Medicine
Objective: To evaluate real-world implementation of newborn genetic screening (NBGS) in terms of positivity rate, carrier frequency, and diagnostic accuracy for inherited metabolic disorders (IMDs), and to explore feasibility and challenges in regional ...
Jialin Mu, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +4 more
doaj   +1 more source