Results 31 to 40 of about 156,253 (302)

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

Frontiers in Genetics
ObjectiveThis study investigates the intergenerational transmission of benign mosaic supernumerary marker chromosomes or structural variant chromosomes (SMCs/SVs) and explores the developmental mechanisms that maintain non-pathogenic mosaic levels across
Jiayu Ruan, Qinhao Song, Yue Hu, Xiaodan Liu, Suping Li, Jianjun Zhu, Li Yang, Li Yang   +7 more
doaj   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease

Frontiers in Pediatrics
ObjectiveThis study evaluated the utility of single nucleotide polymorphism (SNP) microarray analysis in prenatal genetic assessment of fetuses diagnosed with congenital heart disease (CHD), retrospectively analyzing pregnancy outcomes and their ...
Hui Hu, Bo Zhou, Qunda Shan, Shuangshuang Shen, Xiangdong Zhang, Penglong Chen, Jiao Liu, Xiaofang Lan   +7 more
doaj   +1 more source

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely.
Yang Yang, Wang Hao
doaj   +1 more source

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

Molecular Cytogenetics, 2022
Background A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.
Shengfang Qin, Xueyan Wang, Jin Wang
doaj   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 more
wiley   +1 more source

Exposure to Bisphenol A induces abnormal fetal heart development by promoting ferroptosis

Ecotoxicology and Environmental Safety, 2023
Background: Bisphenol A (BPA), a common endocrine-disrupting chemical (EDC), has been revealed to be closely associated with the induction of abnormal heart development, obesity, prediabetes, and other metabolic disorders.
Chen Yujiao, Zhang Meng, Li Shanshan, Wang Wei, Wang Yipeng, Yin Chenghong   +5 more
doaj   +1 more source

New Insights into Atonic Postpartum Hemorrhage: Animal Model Construction Based on Placental Nanodelivery Systems

Advanced Healthcare Materials, EarlyView.
This study develops a placenta‐targeted nanodelivery system co‐loading HMGB1 protein and the NLRP3 agonist nigericin to establish an animal model of atonic postpartum hemorrhage. The model accurately recapitulates clinical phenotypes, including prolonged labor and uterine contractility dysfunction, while revealing inflammatory activation in placental ...
Jiangxue Qu, Ruiqi Wu, Hai Jiang, Lian Chen, Yingying Tian, Shuai Zeng, Tongmin Liu, Cheng Zhao, Huifeng Shi, Xiaolong Liang, Yangyu Zhao   +10 more
wiley   +1 more source