Abstract：
:Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a fatal autosomal recessive metabolic disorder, presenting during infancy. Preimplantation genetic diagnosis (PGD) provides an option for establishing an unaffected pregnancy, avoiding the risk for termination of pregnancy following prenatal diagnosis. The method for pre-selection of mutation-free oocytes for LCHAD deficiency was developed by testing the first and second polar body removed from oocytes by micromanipulation techniques in the framework of in-vitro fertilization. To avoid misdiagnosis, testing was done using hemi-nested polymerase chain reaction (PCR), with outer primers designed to lie outside the pseudogene, eliminating false priming. Four of 12 tested oocytes were predicted to be unaffected, based on the heterozygous first and mutant second polar body. The embryos resulting from these mutation-free oocytes were replaced, yielding a singleton clinical pregnancy and birth of a healthy child following confirmation by prenatal diagnosis.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Verlinsky Y,Rechitsky S,Verlinsky O,Strom C,Kuliev Adoi
10.1016/s1472-6483(10)62183-9keywords:
subject
Has Abstractpub_date
2001-01-01 00:00:00pages
17-19issue
1eissn
1472-6483issn
1472-6491pii
S1472-6483(10)62183-9journal_volume
2pub_type
杂志文章abstract：:This retrospective cohort study of 2051 consecutive fresh non-donor intracytoplasmic sperm injection (ICSI) cycles investigated whether time from oocyte retrieval to denudation, precisely measured and recorded by an operator-independent automated radiofrequency-based system, affected cycle outcome. ICSI cycles were di...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.03.014
更新日期：2018-07-01 00:00:00
abstract：RESEARCH QUESTION:Does using an objective time-lapse imaging algorithm (TLIA) after IVF relate to conventional morphological assessment of human blastocysts as a prognosticator for live birth? DESIGN:Prospective use of a TLIA to select embryos in multicentre IVF clinics all using the same strictly controlled laborator...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.10.005
更新日期：2020-01-01 00:00:00
abstract：:In December 2017, Alain Pottage published an article denying the patentability of a technique called Time-Lapse Monitoring (TLM). His argument was that this procedure, like all other embryo selection procedures, fails to respect human dignity. Here, we argue that this statement is mistaken because assisted reproductiv...
journal_title：Reproductive biomedicine online
pub_type： 评论,杂志文章
doi：10.1016/j.rbmo.2018.08.010
更新日期：2018-10-01 00:00:00
abstract：:A small number of studies from the USA and Europe have provided some data on the profile and characteristics of women who have undergone oocyte cryopreservation for what has been termed elective, social or non-medical reasons; however, little is known in a UK context about which women are undergoing oocyte cryopreserv...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.04.010
更新日期：2015-08-01 00:00:00
abstract：:Spermatogenesis is a critical process for maintaining male fertility. Sustained spermatogonial stem cell self-renewal and differentiation ensures constant spermatogenesis, and several signalling pathways regulate this process. An increasing number of studies have suggested that the mammalian target of rapamycin (mTOR)...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.11.007
更新日期：2016-02-01 00:00:00
abstract：:High daily doses of gonadotrophin-releasing hormone (GnRH) antagonists during the follicular phase of ovarian stimulation were associated with low implantation rates. To test if this occurred because of profound pituitary suppression, the pituitary response was suppressed with a high-dose GnRH antagonist and recombina...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/S1472-6483(11)60009-6
更新日期：2011-02-01 00:00:00
abstract：:The aim of this study was to explore the achievement of parenthood 8 years after starting IVF, considering multiple pathways to parenthood during and after IVF treatment. Medical data on 6507 couples who began IVF between 2000 and 2002 were obtained from the databases of eight French IVF centres. Information on long-t...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.08.010
更新日期：2016-11-01 00:00:00
abstract：:Active immunization of proven fertile adult male bonnet monkeys (Macaca radiata) with phage-expressed follicle-stimulating hormone receptor (FSHR)-specific peptides from the extracellular domain resulted in a progressive drop in sperm count with all animals becoming azoospermic by day 100. However, serum testosterone ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60921-2
更新日期：2004-04-01 00:00:00
abstract：RESEARCH QUESTION:Can a combination of time-lapse morphokinetic parameters and cumulus cell gene expression in polycystic ovary syndrome (PCOS) women be used to predict assisted reproductive treatment outcome? DESIGN:A total of 547 embryos from 100 intracytoplasmic sperm injection (ICSI) cycles were evaluated. Fifty w...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.10.010
更新日期：2019-02-01 00:00:00
abstract：:This proceedings report presents the outcomes from an international Expert Meeting to establish a consensus on the recommended technical and operational requirements for air quality within modern assisted reproduction technology (ART) laboratories. Topics considered included design and construction of the facility, as...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.02.005
更新日期：2018-06-01 00:00:00
abstract：:Although numerous methods have been promoted as having an influence on the gender of offspring, most lack credible scientific evidence of effectiveness. Preconception gender selection has an important application in reducing the risk of having children with X-linked disease. A preconception, flow cytometric sperm sort...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62217-1
更新日期：2005-03-01 00:00:00
abstract：:The fact that today it is possible to write a comprehensive report on assisted reproduction technologies in Latin America is the result of a serious and systematic effort, accomplished by more than 80 centres, from Mexico to Chile. Over the past 10 years, these centres representing the vast majority of assisted reprod...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62237-7
更新日期：2001-01-01 00:00:00
abstract：:Recent studies reveal that polycystic ovary syndrome (PCOS) might be associated with cardiovascular autonomic dysfunction, but with inconsistent results. The aim of this meta-analysis was to study whether women with PCOS have cardiovascular autonomic dysfunction. PubMed, Web of Science, Cochrane Library and SCOPUS wer...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.rbmo.2017.03.018
更新日期：2017-07-01 00:00:00
abstract：:This study describes and compares the possible effects of vitrification on the ultrastructural morphology of 20 human mature oocytes vitrified using two different supports, cryoleaf (n = 10) and cryoloop (n = 10). Fresh human mature oocytes (n = 15) were used as controls. Fresh and vitrified-warmed oocytes appeared ro...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60280-5
更新日期：2009-01-01 00:00:00
abstract：:The effect that gonadotrophin-releasing hormone (GnRH) antagonists exert on endometrial receptivity has not yet been elucidated. GnRH antagonists might directly affect oocytes, the embryo and/or the endometrium. The aim of this study was to investigate the direct effect of GnRH antagonists on the endometrium in oocyte...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,随机对照试验
doi：10.1016/s1472-6483(10)60266-0
更新日期：2009-02-01 00:00:00
abstract：:Reproductive strategies for the human species have basically remained unaltered since Homo sapiens first appeared, probably in the valleys of Africa: males have always attempted to pass their genes to the largest feasible number of females, selecting those females capable of providing the best quality of oocytes; fema...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(12)60016-9
更新日期：2002-01-01 00:00:00
abstract：RESEARCH QUESTION:What is the cost-effectiveness of gonadotrophins compared with clomiphene citrate in couples with unexplained subfertility undergoing intrauterine insemination (IUI) with ovarian stimulation under strict cancellation criteria? DESIGN:A cost-effectiveness analysis alongside a randomized controlled tri...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.09.004
更新日期：2020-01-01 00:00:00
abstract：:Ovarian hyperstimulation syndrome (OHSS) is one of the most important complications of assisted reproductive technologies. Mild OHSS is characterized by ovarian enlargement and abdominal discomfort. In severe cases anasarca, hepatic dysfunction, reduced blood volume, electrolyte imbalance, organ failure and thromboemb...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60938-8
更新日期：2005-02-01 00:00:00
abstract：:The potential advantages of being able to cryopreserve oocytes have been apparent for many decades. Technical difficulties associated with the unique properties of the mammalian oocyte initially retarded rapid development in this area but recent advances have overcome many of the problems. A stage has now been reached...
journal_title：Reproductive biomedicine online
pub_type： 历史文章,杂志文章
doi：10.1016/j.rbmo.2010.10.018
更新日期：2011-09-01 00:00:00
abstract：:For the gamete and embryo donation community, it is well recognized that the implementation of a gamete and embryo donor registry (GEDR) represents a good initiative to ensure the best possible health conditions for donor-conceived individuals. Be they national, institutional or independent, GEDR can play a major role...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.10.020
更新日期：2014-03-01 00:00:00
abstract：RESEARCH QUESTION:How many spermatozoa and slides need to be counted to make a reliable assessment of sperm vitality? Currently, various authorities recommend assessing human sperm vitality on counts of at least 200 cells, but on one or two slides. DESIGN:This was an observational study on duplicate eosin-nigrosin sta...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.03.002
更新日期：2020-06-01 00:00:00
abstract：:Endometrial receptivity is a prerequisite for blastocyst implantation. During receptivity, the hairy-like epithelial cell microvilli transiently fuse to a single flower-like membrane projection called the 'pinopode'. Scanning electron microscopy in sequential endometrial biopsies shows that pinopodes appear about 1 we...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(12)60111-4
更新日期：2002-01-01 00:00:00
abstract：:Surgical treatment of ovarian endometriosis has been associated with damage to the ovarian tissue and premature ovarian failure in young patients. A modified surgical technique that combines cyst excision with ablation for the surgical treatment of ovarian endometriomas is presented, with the aim of reducing possible ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.11.014
更新日期：2010-02-01 00:00:00
abstract：:This study aims to compare a psychological evaluation test to classical psychoanalysis in infertile women. Two hundred women were submitted to the Psychological Evaluation Test (PET). The sum of the scores for the responses ranged from 15 to 60 points, with scores >/=30 points being defined as 'psycho-emotional maladj...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60492-0
更新日期：2004-01-01 00:00:00
abstract：RESEARCH QUESTION:Endoplasmic reticulum stress (ERS) is caused by the accumulation of the misfolded or unfolded proteins in the endoplasmic reticulum and induces the unfolded protein response (UPR). Peritoneal fluid is important in the pathogenesis of endometriosis. In this study, the role of UPR associated with ERS in...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.09.012
更新日期：2021-01-01 00:00:00
abstract：:A total of 52 female Wistar rats were distributed into four groups: non-diabetic (G1) and diabetic (G2) exposed to filtered air; non-diabetic (G3) and diabetic (G4) exposed to cigarette smoke. Diabetes was induced by streptozotocin (40 mg/kg bodyweight, i.v.). Rats were exposed, for 30 min, to filtered air (control) o...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60135-6
更新日期：2009-04-01 00:00:00
abstract：:In terms of treatment outcome, little prognostic power is attributed to day-4 morphology. A day-4 score was applied to 56 patients separating non-compacting embryos from compacting (some areas of compaction) and fully compacted embryos. The latter were further subdivided according to the morphology of compaction. Grad...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60425-7
更新日期：2009-01-01 00:00:00
abstract：RESEARCH QUESTION:We recently reported that blocking of placental aquaporins (AQP) abrogates the apoptotic response of the trophoblast. As trophoblast apoptosis is exacerbated in pre-eclampsia, we hypothesized that changes in AQP in these placentae may trigger programmed cell death. We analysed AQP4 expression in pre-e...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.08.015
更新日期：2018-11-01 00:00:00
abstract：:Discussion about the ethics of human embryonic stem cell (ESC) research in the UK tends to be dominated by the divisive and potentially intractable issue of the moral status of the embryo. This can have the effect of silencing or marginalizing other concerns, especially in the context of public engagement with science...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2010.10.001
更新日期：2010-12-01 00:00:00
abstract：RESEARCH QUESTION:There is some controversy regarding the impact of ovarian stimulation on immune cells in women undergoing IVF. The study's aim was to determine whether ovarian stimulation affected immune uterine cells in healthy women undergoing IVF. DESIGN:This prospective cohort study included 28 patients undergoi...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.08.004
更新日期：2020-01-01 00:00:00
