Results 121 to 130 of about 1,407,914 (310)

Expanded newborn screening in Texas : a cost-effectiveness analysis using Markov modeling [PDF]

, 2009
textTexas House Bill 790 resulted in the expansion of the newborn screening panel from 7 to 27 disorders. The long-term economic implications of this expansion have not been studied.
Tiwana, Simrandeep Kaur
core  

Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

, 2015
PURPOSE: The US Secretary of Health and Human Services provides guidance to state newborn screening programs about which conditions should be included in screening (i.e., the "Recommended Uniform Screening Panel").
Tanksley, Susan, Bocchini, Joseph A. Jr., Lam, Wendy K.K., Calonge, Ned, Kemper, Alex R., Prosser, Lisa A., Goldenberg, Aaron J., Comeau, Anne Marie, Green, Nancy S., Ojodu, Jelili   +9 more
core   +1 more source

Lactobacillus‐Loaded Bioadhesive Hydrogel with Prolonged Retention and Microenvironmental Remodeling for Endometrial Repair and Fertility Restoration

Advanced Science, EarlyView.
A bioactive adhesive hydrogel capable of long‐term uterine retention (>14 days) and local microenvironment modulation is developed by straightforward integration of α‐lipoic acid, L‐arginine, tannic acid, and Lactobacillus johnsonii, which can markedly enhance endometrial repair and restore fertility in a rat model of endometrial injury.
Lifa Chen, Hui Zhou, Yifei Li, Yi Liang, Yifan Zhang, Huiyu Huang, Qiuxian Xie, Youchen Tang, Huixia Ye, Yu Zhang   +9 more
wiley   +1 more source

Dried blood spot quality in newborn inherited metabolic disease screening in Beijing, 2020–2024: a retrospective analysis of incidence, causes, and improvement strategies

BMC Pediatrics
Background This study focuses on assessing the quality of dried blood spots (DBS) for newborn inherited metabolic disease screening in Beijing from 2020 to 2024, identify the causes and risk factors of unqualified DBS, and provide evidence-based quality ...
Lijin Gu, Jinqi Zhao, Lifei Gong, Yue Tang, Lulu Li, Shunan Wang, Wan Yang, Yuanyuan Kong   +7 more
doaj   +1 more source

Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

Molecular Genetics and Metabolism Reports
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene.
Wei Zhou, Huizhong Li, Li Yang
doaj   +1 more source

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation

, 2012
Anne Marie Comeau is a member of the SCID Newborn Screening Working Group.Severe combined immune deficiency (SCID) has been identified as a disorder of high priority for population-based newborn screening. Most affected infants are not brought to medical
SCID Newborn Screening Working Group, Comeau, Anne Marie, Puck, Jennifer M.   +2 more
core   +1 more source

Photobiomodulation‑Engineered Extracellular Vesicles Enhance Neural Differentiation via UFL1‑Mediated UFMylation in Spinal Cord Injury

Advanced Science, EarlyView.
Photobiomodulated microglia release engineered extracellular vesicles that deliver UFL1 to the injured spinal cord. UFL1 competitively binds p53 with MDM2, inhibiting p53 ubiquitination and stabilizing p53 signaling. This dual mechanism simultaneously promotes anti‐inflammatory microglial polarization and directs neural stem cell differentiation toward
Yunxiao Fang, Zuomeng Wu, Ruocheng Guo, Cancan Wang, Yue Qin, Yixiang Dong, Aoyun Li, Ao Liu, Chongyu Jia, Tianyu Han, Peiwen Song, Lei Chen, Cailiang Shen   +12 more
wiley   +1 more source

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening

, 2012
BACKGROUND: Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell-receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined ...
Pass, Kenneth A., Pai, Sung-Yun, Navas, Jennifer S., Wilkey, Jonathan F., Baptiste, Jennifer C., Comeau, Anne Marie, Gerstel-Thompson, Jacalyn L., Eaton, Roger B.   +7 more
core   +1 more source

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source

Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm

, 2012
OBJECTIVE: To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT ...
Parad, Richard B., Comeau, Anne Marie
core   +1 more source