Results 31 to 40 of about 5,809 (168)

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports

Frontiers in Medicine, 2022
We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy
Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Dong Hyun Cha, Sung Han Shim, Sung Han Shim   +13 more
doaj   +1 more source

Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma

Diagnostics, 2020
Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and a fetus. This study aimed to assess a methodological approach other than the commonly used one for noninvasive fetal RHD genotyping on a
Jana Bohmova, Marek Lubusky, Iva Holuskova, Martina Studnickova, Romana Kratochvilova, Eva Krejcirikova, Veronika Durdova, Tereza Kratochvilova, Ladislav Dusek, Martin Prochazka, Radek Vodicka   +10 more
doaj   +1 more source

Frequency of Chromosomal Abnormalities in Products of Conception [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2017
Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the databank of a medical genetics ...
Thaís Mesquita Alves Teles, Carolina Maria Marques de Paula, Mariana Gontijo Ramos, Helena B. B. L. Martins da Costa, Cyntia Roberta Almeida Andrade, Sarah Abreu Coxir, Maria Lectícia Firpe Penna   +6 more
doaj   +1 more source

The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration [PDF]

Human Reproduction Update, 2004
Quantitative fluorescent polymerase chain reaction (QF-PCR) has recently entered the field of prenatal diagnosis to overcome the need to culture fetal cells, hence to allow rapid diagnosis of some selected chromosomal anomalies. We reviewed the studies on the accuracy of QF-PCR in detecting chromosomal anomalies at prenatal diagnosis.
Umberto, Nicolini, Faustina, Lalatta, Federica, Natacci, Cristina, Curcio, The-Hung, Bui   +4 more
openaire   +2 more sources

Importance of QF-PCR method in aborted embryos in comparison with other common relative determination aneuploidies methods

Journal of Current Oncology and Medical Sciences, 2021
One of the most important method in cytogenetic in order to diagnose the chromosomal abnormalities, is QF-PCR (Quantitative fluorescent polymerase chain reaction).In this way, QF-PCR can be employed in diagnosing the chromosome duplication number by ...
Kosar Babaei , Mohsen Azimi-Nezhad , Ali Akbar Samadani   +2 more
doaj  

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis.
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

High Humidity Exacerbates Psoriasiform Skin Disease Relapse by Increasing Tissue‐Resident Memory T Cells via Altering Skin Microbiota

Advanced Science, EarlyView.
We demonstrated that high humidity worsened psoriasis relapse in murine psoriasiform skin inflammation by increasing skin‐resident memory CD8+ cells via upregulating IL‐15Rα on keratinocytes. The increases in IL‐15Rα and memory CD8+ cells were attributed to S. nepalensis and its metabolite ADMA in skin exposed to high humidity.
Chun‐Ling Liang, Yuchao Chen, Chuanjian Lu, Huazhen Liu, Fenglian Qin, Sisi Dai, Feifei Qiu, Haiming Chen, Weihui Lu, Jonathan S. Bromberg, Zhenhua Dai   +10 more
wiley   +1 more source

Tumor‐Derived Alpha‐1 Antitrypsin Promotes Liver Metastasis of Colorectal Cancer Through the Neutrophil Extracellular Traps–CCDC25 Pathway

Advanced Science, EarlyView.
ABSTRACT Liver metastasis is a leading cause of mortality in colorectal cancer (CRC), where the inflammatory tumor microenvironment, specifically neutrophil infiltration, significantly promotes metastatic colonization. This study reveals a pro‐metastatic role for alpha‐1 antitrypsin (A1AT) in CRC liver metastasis via a dual mechanism involving ...
Qian Fei, Chunning Li, Lei Zhan, Xiaoyan Li, Yan Hui, Yue Jin, Jing Zhang, Lu Yang, Xin Sun, Xiaoxi Li, Qian Dong, Jingdong Zhang   +11 more
wiley   +1 more source

A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293

Clinical Case Reports, 2021
46,XY female is a genetic disorder characterized by gonad gender not consistent with chromosomal sex. The SRY gene mutation is a common cause of 46,XY reversal type 1 (OMIM: 400044).
Shengfang Qin, Xueyan Wang, Yunxing Li
doaj   +1 more source

PRMT9 Aggravated Dopaminergic Neurodegeneration in Parkinson's Disease Model by Facilitating the Degradation of DUSP26 and Inducing Mitochondrial Dysfunction

Advanced Science, EarlyView.
In the pathological state of PD induced by MPP+, the upregulated PRMT9 in dopaminergic neurons translocates into mitochondrion and interacts with DUSP26 and catalyzes its arginine methylation, leading to the ubiquitin‐proteasomal degradation of DUSP26 mediated by Trim32.
Tengfei Liu, Xiaomeng Song, Xin Guo, Rui Xiao, Ru Sun, Qiuran Ji, Lu Yu, Yiquan Li, Qingyi Fu, Qidi Xue, Lingjun Kong, Lin Chen, Chengjiang Gao, Huiqing Liu   +13 more
wiley   +1 more source