Results 51 to 60 of about 1,407,914 (310)

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  

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

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Charter of the Kansas Advisory Council on Newborn Screening [2008]

, 2008
"Effective Date: May 15, 2008.""The mission of the Kansas Advisory Council on Newborn Screening (KACNS) is to advise the Kansas Department of Health and Environment (KDHE) on the establishment of a comprehensive, quality system for ...
Kansas Advisory Council on Newborn Screening.
core   +1 more source

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

, 2012
To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family ...
Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Mulcahy, Eleanor A., Eaton, Roger B.   +4 more
core   +1 more source

Exploring the influence of lactoferrin on wound healing and related signaling pathways: a systematic review

FEBS Open Bio, EarlyView.
Lactoferrin promotes wound healing by activating MAPK, PI3K/Akt, and extracellular matrix pathways, enhancing fibroblast remodeling, proliferation, and re‐epithelialization. These mechanisms highlight its therapeutic potential in inflammation control, tissue repair, and remodeling.
Morgana Lüdtke Azevedo, Kátia Cristiane Hall, Matheus dos Santos Fernandez, Geovanna Peter Corrêa, Rafael Guerra Lund   +4 more
wiley   +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

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

Epidemiological characteristics of congenital hypothyroidism and risk factors for permanent congenital hypothyroidism in Gansu, China

BMC Pediatrics
Background Congenital hypothyroidism (CH) is a major endocrine disorder affecting newborn development, and early differentiation between transient CH (T-CH) and permanent CH (P–CH) is essential for individualized management.
Juanjuan Hu, Xiujing Li, Jia Wang, Jie Li, Yangyang Shi, Yanling Chen, Yanjun Dou, Chaohong Da, Yanjie Su, Weikai Wang   +9 more
doaj   +1 more source

Haploidentical Hematopoietic Cell Transplantation for Infants With X‐Linked Severe Combined Immunodeficiency Using Post‐Transplant Cyclophosphamide

Pediatric Blood &Cancer, EarlyView.
Shuhei Takahashi, Akito Kawachi, Dan Tomomasa, Eri Watanabe, Yuji Fujita, Yuya Sato, Masahiro Sekiguchi, Kentaro Watanabe, Moe Hidaka, Akihiro Hoshino, Takahiro Kamiya, Masatoshi Takagi, Hirokazu Kanegane, Motohiro Kato   +13 more
wiley   +1 more source