Results 21 to 30 of about 568,677 (265)

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1

BMC Medical Genomics, 2020
Background Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID.
Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu, Haiming Yuan   +5 more
doaj   +1 more source

Courtesy stigma among primary caregivers of children with autism spectrum disorder in eastern China

Frontiers in Psychiatry, 2023
IntroductionThe experience and perception of stigma is a common problem among primary caregivers of children with autism spectrum disorder (ASD), and has a profound adverse impact on primary caregivers and children with ASD; however, few studies have ...
Xu Chen, Jiao Tong, Bochen Jiang, Shan Ma, Xin Wang, Xun Sun, Yuan Liu, Dongmei Yan, Leilei Wang   +8 more
doaj   +1 more source

Expert Consensus on Standardized Construction of Integrated Outpatient Clinic for Cervical Cancer Prevention and Control in Hubei Provincial Grassroots Maternal and Child Health Hospitals

Zhongliu Fangzhi Yanjiu
Cervical cancer is a malignant tumor that can be effectively controlled and eventually eliminated through etiological prevention, pathogenic prevention, and clinical prevention. In China, some problems exist in comprehensive prevention and control system
Cervical Disease Prevention and Treatment Professional Committee of Hubei Maternal and Child Health Association
doaj   +1 more source

Women’s suggestions on how to improve the quality of maternal and newborn hospital care: a qualitative study in Italy using the WHO standards as framework for the analysis

BMC Pregnancy and Childbirth, 2020
Background A recent systematic review identified very few studies on women’s views on how to improve the quality of maternal and newborn care (QMNC). This study aimed at exploring the suggestions provided by women, after hospital delivery in Italy, on ...
Marzia Lazzerini, Chiara Semenzato, Jaspreet Kaur, Benedetta Covi, Giorgia Argentini   +4 more
doaj   +1 more source

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

BMC Medical Genomics, 2021
Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS).
Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao   +13 more
doaj   +1 more source

Chinese Expert Consensus on Application of HPV Vaccine in Perioperative Treatment of High-Grade Cervical Intraepithelial Neoplasia (2025 Edition)

Zhongliu Fangzhi Yanjiu
In women with high-grade squamous intraepithelial lesion (HSIL) undergoing excision therapy, vaccination with human papillomavirus (HPV) vaccine may reduce the risk of postoperative recurrence.
Cervical Cancer Prevention and Control Research Professional Committee of Chinese Association for Maternal and Child Health Study
doaj   +1 more source

Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

BMC Medical Genetics, 2020
Background Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease.
Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu, Yanhui Liu   +5 more
doaj   +1 more source

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Scientific Reports, 2023
To define the relationship between sex, residence, maternal age, and a broad range of birth defects by conducting a comprehensive cross-analysis based on up-to-date data.
Xu Zhou, Shenglan Cai, Hua Wang, Junqun Fang, Jie Gao, Haiyan Kuang, Donghua Xie, Jian He, Aihua Wang   +8 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source