Results 41 to 50 of about 5,809 (168)

Prenatal diagnosis of fetal aneuploidies using QF-PCR: the egyptian study. [PDF]

Journal of prenatal medicine, 2012
The most common chromosomal abnormalities identified at birth are aneuploidies of chromosome 21, 18, 13, X and Y. Prenatal diagnosis of fetal aneuploidies is routinely done by traditional cytogenetic culture; a major drawback of this technique is the long period of time required to reach a diagnosis.
Shereen, H. Atef, Sawsan, S. Hafez, Nermein, H. Mahmoud, Sanaa, M. Helmy   +3 more
openaire   +2 more sources

Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD). Materials and methods: A 33-year-old woman was referred to the hospital at 18 weeks of gestation because of a multicystic mass
Chih-Ping Chen, Yi-Ning Su, Ming-Huei Lin, Tao-Yeuan Wang, Schu-Rern Chern, Yu-Ling Kuo, Yu-Ting Chen, Wayseen Wang   +7 more
doaj   +1 more source

Lactate‐Driven Restriction of Mitochondrial Permeability Transition Promotes Resistance to Chemo‐Immunotherapy by Suppressing Tumor PANoptosis

Advanced Science, EarlyView.
Tumor‐derived lactate establishes a metabolic lock that drives chemo‐immunotherapy resistance by suppressing PANoptosis. Mechanistically, KAT8 lactylates the mitochondrial translocator ANT2, which recruits PGAM5 to dephosphorylate CypD. This cascade restricts mitochondrial permeability transition pore opening, preventing pro‐inflammatory mtDNA leakage.
Sen Zhong, Wenlong Chen, Fanglong Liu, Shengyi Zhou, Bolin Yu, Yuying Wang, Xiqian Zhou, Xuehui Wang, Diya Liu, Zhuoyu Zhang, Xinran Wang, Mounia Lalouly, Yiwen Li, Zhefei Du, Tao Yan, Zhihui Xiao, Zhou Zhou, Huanhuan Zhu, Fengyuan Qian, Bowen Zheng, Lin Fang   +20 more
wiley   +1 more source

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

TURKISH JOURNAL OF MEDICAL SCIENCES, 2017
QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and is widely used for prenatal rapid aneuploidy detection.We report retrospectively our prenatal diagnosis results between January 2012 and May 2014 in Tepecik Training and Research Hospital Genetic Diagnostic Center. Prenatal diagnosis
Kutbay, Yasar Bekir, Koc, Altug, Ozdemir, Taha Resid, Ozeren, Mehmet, Ozer Kaya, Ozge, Ozyilmaz, Berk, Taner, Cuneyt Eftal, Oztekin, Deniz Can, Kirbiyik, Ozgur   +8 more
openaire   +3 more sources

Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2015
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaic isochromosome 20q at amniocentesis. Materials and methods: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age,
Chih-Ping Chen, Jun-Wei Su, Schu-Rern Chern, Yu-Ling Kuo, Peih-Shan Wu, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang   +7 more
doaj   +1 more source

SARS‐CoV‐2 enhances lysosomal exocytosis and deacidifies lysosomes to facilitate viral release

mLife, EarlyView.
Abstract The mechanism of SARS‐CoV‐2 egress predominantly governs the quantity and quality of progeny viruses, thereby significantly contributing to viral pathogenicity. However, the key factors influencing viral egress remain largely unclear. In this study, using transcription‐ and replication‐competent SARS‐CoV‐2 virus‐like‐particle (SARS‐CoV‐2 trVLP)
Fujun Qin, Chuang Yan, Zizheng Liu, Dianbing Wang, Huimin Zhong, Qiang Ding, Minghai Chen, Xian‐En Zhang   +7 more
wiley   +1 more source

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Frontiers in Genetics, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
Lingping Li, Lingping Li, Lingping Li, Xijing Liu, Xijing Liu, Xijing Liu, Qinqin Li, Qinqin Li, Qinqin Li, Lili Zhang, Lili Zhang, Lili Zhang, Yueyue Xiong, Yueyue Xiong, Yueyue Xiong, Shanling Liu, Shanling Liu, Shanling Liu, He Wang, He Wang, He Wang, Hongmei Zhu, Hongmei Zhu, Hongmei Zhu, Xuemei Zhang, Xuemei Zhang, Xuemei Zhang   +26 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Final Analysis of Neoadjuvant Sintilimab Plus Chemotherapy in IB–IIIA Non‐Small‐Cell Lung Cancer: Phase 2 neoSCORE Trial

Cancer Science, EarlyView.
Kaplan–Meier survival curves comparing two‐cycle versus three‐cycle neoadjuvant sintilimab plus chemotherapy. (A) Disease‐free survival (DFS). (B) Overall survival (OS). CI, confidence interval; HR, hazard ratio; NR, not reached. ABSTRACT The optimal number of neoadjuvant chemoimmunotherapy cycles for resectable non‐small cell lung cancer (NSCLC ...
Miner Shao, Jie Yao, Lufeng Zhao, Ling Zhu, Baizhou Li, Lili Li, Bangyi Zhou, Yixin Zhang, Huiying Liu, Xiaoke Chen, Zuqun Wu, Zexin Chen, Junqiang Fan, Fuming Qiu   +13 more
wiley   +1 more source

Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR. [PDF]

PLoS ONE, 2014
The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies.
Xiangdong Kong, Lin Li, Lei Sun, Kepeng Fu, Ju Long, Xunjin Weng, Xuehe Ye, Xinxiong Liu, Bo Wang, Shanhuo Yan, Haiming Ye, Zuqian Fan   +11 more
doaj   +1 more source