Results 41 to 50 of about 246,417 (294)

m6A‐Driven Pexophagy Triggers Placental Ferroptosis to Impair Fetal Growth Upon Environmental Stress

Advanced Science, EarlyView.
Prenatal environmental stress exposure promotes m6A modification to drive PEX2‐dependent pexophagy, thereby causing placental ferroptosis and FGR. ABSTRACT The role and underlying mechanisms of placental ferroptosis in fetal growth restriction (FGR) induced by environmental stress remain poorly understood.
Xin‐Xin Zhang, Ye‐Xin Luo, Cheng‐Fang Sun, Rui Pan, Yu‐Xi Wu, Zhi Yuan, Xin‐Run Wang, Xu‐Dong Zhang, Lan‐Lan Wu, Xiang‐Yu Yao, Zhan‐Dong Song, Wei Chang, Tian Wei, Pan‐Yuan Cai, Tian‐Ci Zhang, Yong‐Wei Xiong, De‐Xiang Xu, Hua Wang, Hua‐Long Zhu   +18 more
wiley   +1 more source

Complete involution of prenatally-diagnosed fetal scalp hemangioma

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Scalp hemangioma is a rare benign fetal tumor. Here, we describe the detailed imaging features and natural course of a fetal scalp hemangioma until 1 year of age. Case report: We encountered a case of scalp hemangioma at 23 weeks’ gestation by
Eun Ju Jo, Suk-Joo Choi, Soo-young Oh, Byung Kwan Park, Cheong-Rae Roh, Jong-Hwa Kim   +5 more
doaj   +1 more source

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

BMC Pediatrics, 2023
Objective This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. Methods In this retrospective study, the various genetic
Min Li, Baoying Ye, Yiyao Chen, Li Gao, Yi Wu, Weiwei Cheng   +5 more
doaj   +1 more source

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

Advanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou, Shu Ding, Zhenyi Zhang, Qiaoling Shangguan, Jie Qiao, Peijie Zhou, Yidong Chen   +6 more
wiley   +1 more source

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]

, 2013
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Louwen, Frank, Herrmann, Eva, Buxmann, Horst, Reitter, Anke, Stücker, Anja-Undine, Haberl, Annette Elisabeth, Schlößer, Rolf Lambert   +6 more
core   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

Taiwanese Journal of Obstetrics & Gynecology, 2008
Prenatal screening with α-fetoprotein (AFP) and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs) in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern ...
Chih-Ping Chen
doaj   +1 more source

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Molecular Genetics & Genomic Medicine, 2023
Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene.
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen   +8 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Prenatal diagnosis of fetal abdominal lymphangioma by ultrasonography [PDF]

Ultrasound in Obstetrics & Gynecology, 2001
AbstractWe present a case of abdominal lymphangioma in a fetus together with a review of the literature. Diagnosis was made at 20 weeks' gestation by antenatal ultrasonography. In keeping with other reports, the lesion was located on the left and serial ultrasonography demonstrated rapid growth with extension into the lower extremity.
Deshpande P., O'Neill D., Twining P.
openaire   +2 more sources