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Preimplantation

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https://www.readbyqxmd.com/read/29790071/impact-of-polar-body-biopsy-on-embryo-morphokinetics-back-to-the-roots-in-preimplantation-genetic-testing
#1
Michael Schenk, Andrea Groselj-Strele, Katharina Eberhard, Elisabeth Feldmeier, Darja Kastelic, Stefanie Cerk, Gregor Weiss
PURPOSE: Polar body biopsy (PBB) is a common technique in preimplantation genetic testing (PGT) to assess the chromosomal status of the oocyte. Numerous studies have been implemented to investigate the impact of biopsies on embryo development; however, information on embryo morphokinetics is still lacking. Hence, we investigated the impact of PBB on morphokinetic parameters in early embryo development. METHODS: Four hundred four embryos (202 PBB, 202 control) were retrospectively analyzed...
May 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#2
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29784807/oocyte-stage-specific-effects-of-mtor-determine-granulosa-cell-fate-and-oocyte-quality-in-mice
#3
Jing Guo, Teng Zhang, Yueshuai Guo, Tao Sun, Hui Li, Xiaoyun Zhang, Hong Yin, Guangyi Cao, Yaoxue Yin, Hao Wang, Lanying Shi, Xuejiang Guo, Jiahao Sha, John J Eppig, You-Qiang Su
MTOR (mechanistic target of rapamycin) is a widely recognized integrator of signals and pathways key for cellular metabolism, proliferation, and differentiation. Here we show that conditional knockout (cKO) of Mtor in either primordial or growing oocytes caused infertility but differentially affected oocyte quality, granulosa cell fate, and follicular development. cKO of Mtor in nongrowing primordial oocytes caused defective follicular development leading to progressive degeneration of oocytes and loss of granulosa cell identity coincident with the acquisition of immature Sertoli cell-like characteristics...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#4
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29780970/three-challenges-for-future-research-on-cochlear-implants
#5
REVIEW
David B Pisoni, William G Kronenberger, Michael S Harris, Aaron C Moberly
Cochlear implants (CIs) often work very well for many children and adults with profound sensorineural (SNHL) hearing loss. Unfortunately, while many CI patients display substantial benefits in recognizing speech and understanding spoken language following cochlear implantation, a large number of patients achieve poor outcomes. Understanding and explaining the reasons for poor outcomes following implantation is a very challenging research problem that has received little attention despite the pressing clinical significance...
December 2017: World Journal of Otorhinolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29778385/frequencies-of-chromosome-specific-mosaicisms-in-trophoectoderm-biopsies-detected-by-next-generation-sequencing
#6
Gary Nakhuda, Chen Jing, Rachel Butler, Colleen Guimond, Jason Hitkari, Elizabeth Taylor, Niamh Tallon, Albert Yuzpe
OBJECTIVE: To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy. DESIGN: Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy. SETTING: Private fertility clinic. PATIENT(S): A total of 378 patients who underwent preimplantation genetic screening by NGS for routine clinical indications from February 2016 to April 2017...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29774457/vitamin-d-as-a-follicular-marker-of-human-oocyte-quality-and-a-serum-marker-of-in-vitro-fertilization-outcome
#7
Przemysław Ciepiela, Antoni J Dulęba, Ewelina Kowaleczko, Kornel Chełstowski, Rafał Kurzawa
PURPOSE: This study investigated the relationship between the vitamin D [25(OH)D] level in individual follicles and oocyte developmental competence. METHODS: A prospective cohort study in a private infertility center. Infertile women (N = 198) scheduled for intracytoplasmic sperm injection (ICSI) and a single embryo transfer (SET) provided serum samples and 322 follicular fluid (FF) specimens, each from a single follicle on the day of oocyte retrieval. RESULTS: FFs corresponding to successfully fertilized oocytes (following ICSI) contained significantly lower 25(OH)D level compared with those that were not fertilized (28...
May 17, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29771291/long-noncoding-rnas-exchange-during-zygotic-genome-activation-in-goat
#8
Mingtian Deng, Yongjie Wan, Zifei Liu, Caifang Ren, Guomin Zhang, Jing Pang, Yanli Zhang, Feng Wang
In mammals, their proper development during the early cleavage stages strongly relies on the gene products newly transcribed by zygotic genome activation (ZGA). Long noncoding RNAs (lncRNAs) have been characterized as key regulators of the ZGA process in mice and human. However, the ZGA stage has not yet been identified and epigenetic regulations of the ZGA process remain largely unknown in goats. Here, we show that ZGA occurred at the 8-cell stage in goats. During ZGA, tri-methylation of H3K9 was dynamically changed but maintained strong staining in development arrested embryos...
May 15, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29768947/linking-back-to-back-stimulation-cycles-with-oral-contraceptives-or-progestins-in-women-undergoing-embryo-accumulation-for-preimplantation-genetic-testing-a-retrospective-study
#9
Jorge Rodriguez-Purata, Marta Devesa, Mónica Parriego, Clara Pardos, Ignacio Rodriguez, Nikolaos P Polyzos, Francisca Martínez, Buenaventura Coroleu
This retrospective study was carried out to determine which strategy is associated with improved outcomes in two back-to-back cycles when undergoing embryo accumulation. Eighty patients with two stimulation cycles performed with <45 days between retrievals between Jan'16-Mar'17 were included. Patients were segregated according to the strategy used to link stimulations: spontaneous menses (SM), vaginal micronized progesterone (VMP) or oral contraceptive pills (OCP). Main outcome measure was oocytes retrieved...
May 17, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29766333/treatment-of-donor-cells-with-recombinant-kdm4d-protein-improves-preimplantation-development-of-cloned-ovine-embryos
#10
Yumei Zhang, Qianqian Wang, Kailing Liu, Enen Gao, Hong Guan, Jian Hou
Incomplete epigenetic reprogramming is one of the major factors affecting the development of embryos cloned by somatic cell nuclear transfer (SCNT). Histone 3 lysine 9 (H3K9) trimethylation has been identified as a key barrier to efficient reprogramming by SCNT. The aim of this study was to explore a method of downregulating H3K9me3 levels in donor cells by using histone lysine demethylase (KDM) protein. When sheep fetal fibroblast cells were treated with recombinant human KDM4D protein (rhKDM4D), the levels of H3K9 trimethylation and dimethylation were both significantly decreased...
May 15, 2018: Cytotechnology
https://www.readbyqxmd.com/read/29764739/maternal-obesity-alters-the-expression-of-embryonic-regulatory-transcripts-in-the-preimplantation-ovine-conceptus
#11
Sarah R McCoski, Rebecca K Poole, McCauley T Vailes, Alan D Ealy
The influence of exposure to overfeeding-induced maternal obesity around the time of conception on early embryogenesis was examined in the day 14 ovine conceptus. The relative abundance of FGFR2 and DNMT1 was influenced by maternal obesity status and conceptus sex, and the abundance of PPARG and PTGS2 transcripts was greater in male conceptuses regardless of the obesity status of the ewe. These observations demonstrated that short-term exposure to maternal obesity impacts early conceptus transcript patterning...
May 12, 2018: Reproductive Biology
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#12
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29756238/otopathologic-evaluation-of-temporalis-fascia-grafts-following-successful-tympanoplasty-in-humans
#13
Danielle R Trakimas, Reuven Ishai, Iman Ghanad, Nicole L Black, Elliott D Kozin, Jeffrey Tao Cheng, Aaron K Remenschneider
OBJECTIVE: Temporalis fascia is a commonly used graft material in tympanoplasty; however, little is known about how the histological structure of fascia remodels postimplantation. Herein, we aim to quantify the pre- and postoperative microstructure of temporalis fascia and compare histological findings to the native tympanic membrane (TM). METHODS: Temporal bone specimens having undergone successful subtotal or total drum replacement using temporalis fascia were identified (n = 3)...
May 14, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#14
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29745895/g9a-regulates-temporal-preimplantation-developmental-program-and-lineage-segregation-in-blastocyst
#15
Jan J Zylicz, Maud Borensztein, Frederick Ck Wong, Yun Huang, Caroline Lee, Sabine Dietmann, M Azim Surani
Early mouse development is regulated and accompanied by dynamic changes in chromatin modifications, including G9a-mediated histone H3 lysine 9 dimethylation (H3K9me2). Previously, we provided insights into its role in post-implantation development (Zylicz et al., 2015). Here we explore the impact of depleting the maternally inherited G9a in oocytes on development shortly after fertilisation. We show that G9a accumulates typically at 4 to 8-cell stage to promote timely repression of a subset of 4-cell stage-specific genes...
May 10, 2018: ELife
https://www.readbyqxmd.com/read/29741587/obesity-in-mares-promotes-uterine-inflammation-and-alters-embryo-lipid-fingerprints-and-homeostasis
#16
Dawn R Sessions-Bresnahan, Adam L Heuberger, Elaine M Carnevale
Maternal body composition can be an important determinant for development of obesity and metabolic syndrome in adult offspring. Obesity-related outcomes in offspring may include epigenetic alterations; however, mechanisms of fetal programming remain to be fully elucidated. This study was conducted to determine the impact of maternal obesity in the absence of a high fat diet on equine endometrium and preimplantation embryos. Embryos were collected from normal and obese mares at 8 and 16 d and a uterine biopsy at 16 d (0 d = ovulation)...
May 7, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#17
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29735145/growth-friendly-surgery-is-effective-at-treating-early-onset-scoliosis-associated-with-goldenhar-syndrome
#18
Braydon Connell, Jonathan J Oore, Joshua M Pahys, George H Thompson, Tricia St Hilaire, Tara Flynn, Ron El-Hawary
OBJECTIVE: To evaluate the radiographic results and complications of growth-friendly (GF) surgery in the treatment of early-onset scoliosis (EOS) associated with Goldenhar syndrome. BACKGROUND: Goldenhar syndrome has been associated with spinal deformity, which may be progressive. Efficacy and complication rate of GF treatment has not been reported for this population of patients with EOS. METHODS: Patients with Goldenhar syndrome and EOS with two years' follow-up were identified from two international multicenter EOS databases...
May 2018: Spine Deformity
https://www.readbyqxmd.com/read/29733421/chemotherapeutic-drugs-alter-functional-properties-and-proteome-of-mouse-testicular-germ-cells-in-vitro
#19
Polash Chandra Karmakar, Yeon-Jin Cho, Yong-Hee Kim, Sang-Eun Jung, Ju-Hee Jin, Bang-Jin Kim, Woo-Sung Kwon, Young-Hyun Kim, Myung-Geol Pang, Buom-Yong Ryu
Many of the testicular cancer-survived patients, treated with chemotherapeutic drugs, show infertility, preimplantation and postimplantation loss, and germ cell abnormality. Studies examining the negative effects of chemotherapeutic drugs on testicular germ cells are ongoing; however, information on the stemness properties and proteomic profiles of these cells are lacking. The present study investigated the effects of chemotherapeutic drugs etoposide, cisplatin, bleomycin, and their combination (BEP) on the physiology and stem cell activity of mouse germ cells in vitro...
April 27, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29724534/low-anti-m%C3%A3-llerian-hormone-concentration-is-associated-with-increased-risk-of-embryonic-aneuploidy-in-women-of-advanced-age
#20
Xiao Jiang, Junhao Yan, Yan Sheng, Mei Sun, Linlin Cui, Zi-Jiang Chen
RESEARCH QUESTION: Does an association exist between serum anti-Müllerian hormone (AMH) level, the marker of biological ovarian age, and embryonic aneuploidy risk in recurrent spontaneous miscarriage (RSM) patients of reproductive age? DESIGN: This retrospective study included a total of 422 IVF cycles of 394 unexplained RSM patients undergoing preimplantation genetic testing for aneuploidy (PGT-A), enrolled from January 2014 to December 2016. Subjects were divided into three groups according to the 25th (1...
April 13, 2018: Reproductive Biomedicine Online
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