Results 141 to 150 of about 220,107 (299)

Newborn Screening

Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected at an early stage using appropriate diagnostics, the ...
Hohenfellner, Katharina||, Elenberg, Ewa, Ariceta Iraola, Gema||, Nesterova, Galina, Soliman, Neveen A.||, Topaloglu, Rezan||   +5 more
openaire   +3 more sources

CRP Deficiency Rescues Periodontitis‐Induced Hippocampal Neurogenesis Impairment by Suppressing OPC‐Derived BMP4 Signaling in Rats

Advanced Science, EarlyView.
Chronic periodontitis elevates circulating CRP, which enters the hippocampus to upregulate BMP4 in oligodendrocyte precursor cells (OPCs), thereby impairing neurogenesis and inducing anxiety/depression‐like behaviors in rats. Counteracting this pathway, CRP deficiency helps confer functional resilience to OPCs.
Lingjie Li, Ping Deng, Siyu Hou, Xianbo Xia, Wei Zhao, Xingyu Zhu, Yang Zhang, Chao Wang, Ling Xu, Jinlin Song   +9 more
wiley   +1 more source

P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum

Genetics in Medicine Open
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty   +6 more
doaj   +1 more source

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State

Genetics in Medicine Open
Jing Xiao, Sarah Bradley, Christopher Johnson, Carlos Saavedra-Matiz, Tara Whispell, Joseph Orsini, Michele Caggana   +6 more
doaj   +1 more source

The Impact of Prenatal Exposure to Cocaine on Newborn Costs and Length of Stay [PDF]

This paper determines newborn costs and lengths of stay attributable to prenatal exposure to cocaine and other illicit drugs, using as a data source all parturients who delivered at a large municipal hospital in New York City between November 18, 1991 ...
Andrew D. Racine, Hassan Wehbeh, Sandra McCalla, Theodore Joyce   +3 more
core  

Sphingomonas paucimobilis‐Driven Epithelial–Endothelial Transition in Adenomyosis Pathogenesis

Advanced Science, EarlyView.
This study identifies epithelial–endothelial transition (EET) as a novel adenomyosis pathogenic mechanism driven by Sphingomonas paucimobilis colonization. Systematic inhibitor experiments validate a TNFα→NF‐κB→MMP signaling cascade essential for EET. Critically, bacterial culture supernatant fails to induce pathological changes, demonstrating viable ...
Peigen Chen, Hao Shi, Junxian He, Ziyu Liu, Yuanyuan Zhu, Xiaoyan Liang, Guihua Liu, Xing Yang   +7 more
wiley   +1 more source

Promotion of DFU Wound Healing via BRG1–COL16A1 Axis in Fibroblasts

Advanced Science, EarlyView.
In normal wound healing, transcription factor BRG1 is upregulated and binds the COL16A1 promoter to enhance its expression, promoting fibroblast proliferation, migration, contraction, extracellular matrix deposition, and granulation tissue formation, thus accelerating wound closure.
Penghui Wang, Jiaming Sun, Ying Wang, Bichen Ren, Yuxin Liu, Yunhan Liu, Liang Chen, Lu Yu, Tao Dai, Li Yu, Zhihui Dong   +10 more
wiley   +1 more source

Depletion of the RNA‐Editing Enzyme ADAR1 Invigorates the Antitumor Immunity of NK Cells

Advanced Science, EarlyView.
ADAR1 is upregulated in NK cells from melanoma patients, impairing their function. Its loss enhances NK cell tumor infiltration and cytotoxicity in vitro and in vivo. Mechanistically, ADAR1 deficiency destabilizes CD38 mRNA to reduce its expression, thereby increasing NK cell mobility and killing, which nominates it as a therapeutic target for NK cell ...
Shuhan Chen, Di Lu, Rukang Liang, Weikeng Tan, Erming Zhao, Sihuang Wu, Xintong Li, Yulong Song, Miaojian Wan, Xiaoyuan Xie, Qi Zhang, Qiuli Liu   +11 more
wiley   +1 more source

P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State

Genetics in Medicine Open
Jing Xiao, C. Austin Pickens, Konstantinos Petritis, Matthew Wojcik, Carlos Saavedra-Matiz, Joseph Orsini, Michele Caggana   +6 more
doaj   +1 more source