Results 61 to 70 of about 131,687 (292)

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

International Journal of Neonatal Screening, 2017
The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff
Violeta Anastasovska, Elena Sukarova-Angelovska, Milica Pesevska, Elizabeta Taseva, Mirjana Kocova   +4 more
doaj   +1 more source

Biocatalytic Nanoregulators Restore Joint Redox‐Immune Homeostasis in Rheumatoid Arthritis

Advanced Science, EarlyView.
Mesenchymal stem cell‐derived extracellular vesicles (EVs) coat ruthenium‐loaded metal‐organic frameworks (Ru@ZrMOF), creating a targeted therapeutic (Ru@ZrMOF/EVs). This platform scavenges ROS, generates oxygen, and polarizes macrophages from M1 to M2, alleviating inflammation, inhibiting pannus, promoting cartilage repair, and downregulating HIF‐1α ...
Xingheng Wang, Jianbo Huang, Shuwei Zhang, Sujiao Cao, Fangxue Du, Liqiang Zhou, Li Qiu, Yuanjiao Tang   +7 more
wiley   +1 more source

Correction: Hall et al. Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. Int. J. Neonatal Screen. 2025, 11, 21

International Journal of Neonatal Screening
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
Kate Hall, Peter C. J. I. Schielen, Dimitris Platis   +2 more
doaj   +1 more source

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet Journal of Rare Diseases, 2018
Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs).
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin   +13 more
doaj   +1 more source

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

Advanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen, Houcheng Li, Jinyan Teng, Zhen Wang, Xiaolu Qu, Zhe Chen, Xiaodian Cai, Haonan Zeng, Zhonghao Bai, Jinghui Li, Xiangchun Pan, Leyan Yan, Fei Wang, Lin Lin, Yonglun Luo, Goutam Sahana, Mogens Sandø Lund, Maria Ballester, Daniel Crespo‐Piazuelo, Peter Karlskov‐Mortensen, Merete Fredholm, Alex Clop, Marcel Amills, Crystal Loving, Christopher K. Tuggle, Ole Madsen, Jiaqi Li, Zhe Zhang, George E. Liu, Jicai Jiang, Lingzhao Fang, Guoqiang Yi   +31 more
wiley   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen   +8 more
doaj   +1 more source

USP9X as a Candidate Mediator of Prenatal Aspirin‐Induced Ovarian Reserve Reduction in Offspring Mice

Advanced Science, EarlyView.
This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li, Caiyun Ge, Wai Yen Yim, Hui Feng, Tiancheng Wu, Lu Chen, Qiaohua Xiong, Shumin Pan, Mei Wang, Huijun Chen, Yuanzhen Zhang, Hui Wang   +11 more
wiley   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Frontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of
Gang Xiao, Zonghui Feng, Chaochao Xu, Xuzhen Huang, Maosheng Chen, Min Zhao, Yanbin Li, Yang Gao, Shulin Wu, Yuyan Shen, Ying Peng   +10 more
doaj   +1 more source

Newborn screening for thyroid-stimulating hormone as an indicator for assessment of iodine status in the Republic of Macedonia [PDF]

Journal of Medical Biochemistry, 2016
Background: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status ...
Anastasovska Violeta, Kocova Mirjana
doaj