Abstract：
:Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A novel TG(13)T(2) allele was identified in a CBAVD patient with no clinical cystic fibrosis phenotype, normal pancreatic function, normal sweat chloride concentrations and no Y chromosome microdeletions. This case was studied for CFTR mutations, IVS8-poly(T), and M470V exon 10 missense polymorphism. One novel allele was detected in the (TG)(m)(T)(n) loci that had not been reported previously. This patient carried a [TG(11)T(9); R117H; p.Met470Val] haplotype on the other chromosome. Since the TG(13)T(2) allele was a compound heterozygote with R117H mutation, it was difficult to judge the severity of this allele. To better understand the complex regulation of exon 9 splicing, the levels of correctly spliced CFTR transcripts in CFTR-expressing epithelial cells derived from vas deferens and epididymis were analysed. These data emphasize the role of the T2 allele in CBAVD, and identify the T2 allele as a severe CBAVD disease-causing mutation. According to the data, the longer (TG)(m) polymorphic tract increases the proportion of transcripts with exon 9 deletion (9-), but only when activated by the short T allele.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Radpour R,Taherzadeh-Fard E,Gourabi H,Aslani S,Vosough Dizaj A,Aslani Adoi
10.1016/s1472-6483(10)60089-2subject
Has Abstractpub_date
2009-03-01 00:00:00pages
327-32issue
3eissn
1472-6483issn
1472-6491pii
S1472-6483(10)60089-2journal_volume
18pub_type
杂志文章abstract：RESEARCH QUESTION:Multiple sclerosis is predominant in women during the childbearing years and, in case of problems with conceiving naturally, assisted reproductive technology (ART) becomes relevant. The efficacy of ART treatment in women with multiple sclerosis has not previously been studied. Our aim was to examine t...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.01.013
更新日期：2020-05-01 00:00:00
abstract：:Gonadotrophin-releasing hormone (GnRH) antagonists suppress gonadotrophin secretion resulting in dramatic reduction in treatment cycle duration. Assuming comparable clinical outcomes, these benefits may justify changing the standard long GnRH agonist protocol to GnRH antagonist regimens. To evaluate the evidence, data...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61059-0
更新日期：2007-05-01 00:00:00
abstract：:Anovulatory women can prove extremely challenging patients in the fertility clinic, particularly if they are unresponsive to standard protocols of clomiphene citrate. Katayama and colleagues now report (in this issue) an intriguing option, which yielded surprisingly high success rates in 16 selected young (age <36year...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.03.010
更新日期：2010-06-01 00:00:00
abstract：:This retrospective cohort study observed the live birth rates as well as cumulative live birth rates in women with poor ovarian response (POR) undergoing IVF-embryo transfer treatment, stratified for age and cycle number. Four hundred and one patients with POR diagnosed according to the Bologna criteria were enrolled ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.02.013
更新日期：2016-05-01 00:00:00
abstract：RESEARCH QUESTION:To determine whether there is a risk of localized Zika virus (ZIKV) infection in the upper genital tract, specifically the oocytes, follicular fluids and endometrium, in exposed and/or recently infected reproductive-age women. ZIKV is an Aedes mosquito-borne Flavivirus that can lead to birth defects a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.05.013
更新日期：2019-10-01 00:00:00
abstract：:Regenerative medical therapy has been expected to compensate for the therapeutic disadvantages of reconstructive surgery and organ transplantation, as well as create a new therapeutic strategy. The objective of regenerative medical therapy is to induce the regeneration and repair of defective tissues based on the natu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)60558-5
更新日期：2008-01-01 00:00:00
abstract：:Bacterial culture of semen samples from 100 male partners in infertile couples revealed the presence of aerobic bacteria in 49 cases. Streptococcus faecalis (Enterococcus) was isolated from 53%, micrococci species from 20% and alpha-haemolytic streptococci from 16% of the infected samples. The incidence of oligozoospe...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61591-x
更新日期：2002-07-01 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：:The advent of vitrification has transformed the therapeutic landscape in assisted reproductive technology. Clear evidence for this is provided by the dramatic rise in the number of frozen embryo transfer (FET) cycles being carried out annually. In this review, we examine the reasons that underlie this trend and the cu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2020.03.017
更新日期：2020-08-01 00:00:00
abstract：:Sperm DNA damage is a useful biomarker for male infertility diagnosis and prediction of assisted reproduction outcomes. It is associated with reduced fertilization rates, embryo quality and pregnancy rates, and higher rates of spontaneous miscarriage and childhood diseases. This review provides a synopsis of the most ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.06.014
更新日期：2013-10-01 00:00:00
abstract：:Construction of artificial gametes may be made possible by transferring somatic cells into enucleated oocytes and inducing chromosomal halving of their nuclei. This study examines the possibility of constructing viable human gametes, and their potential for participation in normal fertilization. Spare germinal vesicle...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60838-3
更新日期：2005-09-01 00:00:00
abstract：:Tubal pathology is a common cause of subfertility. Identifying risk factors for tubal pathology in the medical history is important to distinguish between those couples who benefit from early tubal patency tests and those in whom presence of tubal pathology is less likely and delaying tubal tests is justified. This st...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60589-5
更新日期：2008-02-01 00:00:00
abstract：:Preimplantation genetic diagnosis and screening improves the chances of achieving a viable pregnancy, not only free of undesired single-gene defects but also aneuploidy. In addition, improvements in vitrification provide an efficient means of preserving embryos (blastocysts). By combining trophectoderm biopsy with rec...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.11.018
更新日期：2014-04-01 00:00:00
abstract：:Cross-border reproductive care (CBRC) is becoming increasingly common. Little is known about the motivations and information and support needs of people who cross borders to access surrogacy. This study aimed to explore: how those considering or undertaking extraterritorial surrogacy reach their decision; what other a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.08.008
更新日期：2015-11-01 00:00:00
abstract：:The efficiency of a new vitrification technique using embryos obtained after abnormal fertilization was assesed. A total of 100 embryos were vitrified, 48 with the automatic dehydrated carrier (ADC) technique and 52 with cryotop. The survival rates in ADC and cryotop groups were similar (85.4% versus 92.3%). The loss ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2014.10.012
更新日期：2015-02-01 00:00:00
abstract：:Countries that oppose embryo destruction for research purposes can forbid the production of human embryonic stem cell lines on their territory, but these cell lines are nevertheless produced abroad. Therefore, these countries also need to determine if their position on embryo destruction allows them to import and use ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60063-6
更新日期：2009-01-01 00:00:00
abstract：:Myomectomy is one of the commonest gynaecological operations. Laparoscopic myomectomy has emerged over the last two decades as a possible alternative to the traditional laparotomy. Most studies have revealed that the laparoscopic procedure is at least as safe as the open procedure as to the rate of complications and m...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.09.011
更新日期：2011-07-01 00:00:00
abstract：:Several surgical treatment modalities have been described in cases of isolated or multiple ovarian endometriotic cysts. The aim of this preliminary study was to investigate and test the efficacy of ethanol sclerotherapy (EST) for recurrent endometriotic cysts, before ovarian stimulation in infertile patients with an a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60055-7
更新日期：2009-07-01 00:00:00
abstract：:The effect of translocations on embryo development was evaluated and results were compared in terms of embryo development with those of embryos obtained from standard intracytoplasmic sperm injection (ICSI) cycles. In 23 translocation carriers with 34 cycles, fertilization, pronuclear morphology scoring (PMS), develop...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62073-1
更新日期：2003-11-01 00:00:00
abstract：:In this retrospective study of 873 men enrolled for assisted reproduction techniques, relationships between sperm quality parameters, motile sperm organelle morphology examination (MSOME), DNA damage and live birth rate were evaluated. The presence of vacuoles in the sperm heads was detected by MSOME. Either chromatin...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.10.009
更新日期：2016-02-01 00:00:00
abstract：:Available evidence on the impact of ovarian stimulation on the progression of endometriosis or its recurrence was systematically reviewed. Data from ovarian stimulation alone, or associated with intrauterine insemination (IUI) or IVF, were included. Sixteen studies were selected. Initial case reports (n = 11) document...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.11.021
更新日期：2019-02-01 00:00:00
abstract：:In medicine the changes in therapies are the evidence of the progress in knowledge. But many examples concerning the treatment of early spontaneous abortion, late abortion, menopause, contraception and infertility show that gynaecologists and obstetricians change their treatments just as fashion designers change their...
journal_title：Reproductive biomedicine online
pub_type： 历史文章,杂志文章
doi：10.1016/s1472-6483(10)60903-0
更新日期：2007-04-01 00:00:00
abstract：:Information regarding the growth and development of endometriomas during IVF-intracytoplasmic sperm injection (ICSI) cycles is lacking. In this study, the aim was to estimate the influence of IVF-ICSI on the dimension of these cysts and to assess whether this treatment contributes to the manifestation of new endometri...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60099-5
更新日期：2009-03-01 00:00:00
abstract：:Recent studies have given conflicting results regarding growth in children born following assisted reproductive treatments up to the age of 18years. It has been suggested that children conceived via IVF may be taller than naturally conceived children and that this may due to subtle epigenetic alteration of imprinted g...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.10.006
更新日期：2010-01-01 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
abstract：:The non-classical major histocompatibility complex (MHC) class Ib antigens, termed HLA-G and HLA-E, have been associated with fetal maternal tolerance. The role of HLA-G in the preimplantation embryo remains unclear although immunoprotection, adhesion and cell signalling mechanisms have been suggested. Unlike HLA-G, H...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.11.008
更新日期：2010-02-01 00:00:00
abstract：:The maturation medium for in-vitro oocyte maturation is usually supplemented with serum. However, supplementation with serum from pregnant women adversely affects the outcome of in-vitro maturation. The purpose of the study was to assess if growth factors or granulosa cell co-culture could overcome the adverse effects...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60068-5
更新日期：2009-08-01 00:00:00
abstract：:Intracytoplasmic morphologically selected sperm injection (IMSI) involves the use of differential interference contrast microscopy at high magnification (at least ·6300) to improve the observation of live human spermatozoa (particularly by showing sperm head vacuoles that are not necessarily seen at lower magnificatio...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.09.019
更新日期：2014-01-01 00:00:00
abstract：:A culture system has been developed for pieces of whole endometrium, comprising many different cell types. The system maintains the integrity of all compartments important for tissue function and allows functional studies of the human endometrium. Endometrial biopsy strips were collected from fertile women. The strips...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61759-2
更新日期：2003-09-01 00:00:00
abstract：:Time-lapse technique provides opportunities to observe the dynamic process of human early development. Previous studies have suggested several abnormal division patterns were associated with decreased developmental potential, but no systematic results are currently available. In this study, seven abnormal division pat...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.02.008
更新日期：2015-06-01 00:00:00
