Abstract：
:Male infertility represents one of the clearest examples of a complex disease with a substantial genetic basis. Numerous male mouse models, mutation screening and association studies reported over the last few years reveal the high prevalence of genetic causes of spermatogenic impairment, accounting for 10-15% of severe male infertility, including chromosomal aberrations and single gene mutations. Natural selection prevents the transmission of mutations causing infertility, but this protective mechanism may be overcome by assisted reproduction techniques. Consequently, the identification of genetic factors is important for appropriate management of the infertile couple. However, a large proportion of infertile males are diagnosed as idiopathic, reflecting poor understanding of the basic mechanisms regulating spermatogenesis and sperm function. Furthermore, the molecular mechanisms underlying spermatogenic damage in cases of genetic infertility (for example Yq microdeletions) are not known. These problems can be addressed only by large scale association studies and testicular or spermatozoal expression studies in well-defined alterations of spermatogenesis. It is conceivable that these studies will have important diagnostic and therapeutic implications in the future. This review discusses the genetic causes of male infertility known to date, the genetic polymorphisms possibly associated with male infertility, and reports novel results of global gene expression profiling of normal human testis by microarray technology.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Ferlin A,Raicu F,Gatta V,Zuccarello D,Palka G,Foresta Cdoi
10.1016/s1472-6483(10)60677-3subject
Has Abstractpub_date
2007-06-01 00:00:00pages
734-45issue
6eissn
1472-6483issn
1472-6491pii
S1472-6483(10)60677-3journal_volume
14pub_type
杂志文章,评审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：: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：:The aim of this study was to evaluate the effect of vaginal natural progesterone on the prevention of preterm birth in IVF/intracytoplasmic sperm injection (ICSI) pregnancies. A single-centre prospective placebo-controlled randomized study was performed. A total of 313 IVF/ICSI pregnant patients were randomized into t...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.rbmo.2012.03.013
更新日期：2012-08-01 00:00:00
abstract：:An effective, consistent and xeno-free cryopreservation technique is crucial for any human embryonic stem cell (hESC) laboratory with future perspectives for clinical application. This study presents a new slow freezing-rapid thawing method in serum-free conditions that allows the cryopreservation of a large number of...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60302-1
更新日期：2008-07-01 00:00:00
abstract：:Failed fertilization after intracytoplasmic sperm injection (ICSI) can occur due to an oocyte activation defect. In these cases assisted oocyte activation (AOA) may help but efficiency is still unknown. Prior to AOA, the mouse oocyte activation test (MOAT) can be carried out by injecting human spermatozoa into mouse o...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60313-6
更新日期：2008-11-01 00:00:00
abstract：:Anticancer effects of statins were studied using karyotypically normal human embryonic stem cells (hESC) (HES3), karyotypically abnormal hESC (BG0IV), embryonal carcinoma (NTERA-2), ovarian (TOV-112D) and colorectal cancer (HT-29) cells. The cells were treated with simvastatin, pravastatin, mevastatin and lovastatin i...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60390-2
更新日期：2007-11-01 00:00:00
abstract：:Ovarian stimulation with low-dose human menopausal gonadotrophin (HMG) is superior to clomiphene citrate in intrauterine insemination (IUI) cycles with respect to clinical pregnancy rate, but it is unclear whether HMG is also the more cost-effective option. The aim of this study was to compare the cost-effectiveness o...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.12.007
更新日期：2018-03-01 00:00:00
abstract：:The aneuploidy rates in expanded blastocysts biopsied on days 5 and 6 development were assessed in women undergoing IVF followed by array comparative genomic hybridization. This study included 1171 expanded blastocysts from 465 patients. Among the 465 patients, 215 and 141 underwent embryo biopsy on day 5 and day 6 (4...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.06.005
更新日期：2016-09-01 00:00:00
abstract：:The aim of this study was to evaluate the use of biological serum markers, available routinely in most hospital clinical laboratories, in predicting successful outcomes of expectant management in women presenting with a missed miscarriage. This is a single centre observational prospective study over a 16-month period....
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.09.004
更新日期：2017-01-01 00:00:00
abstract：:Rescue ICSI can induce a high rate of 3 pronuclei (PN) formation from double insemination in eggs already fertilized by IVF but lacking signs of normal pronuclear formation. This study was performed to determine whether the number of 3PN embryos could be reduced by using the polarization microscope for rescue intracyt...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.10.019
更新日期：2013-03-01 00:00:00
abstract：:When infertile women undergoing IVF or intracytoplasmic sperm injection (ICSI) have more than 20 mature oocytes retrieved, at least 15 oocytes are inseminated by their husband's spermatozoa. The extra oocytes are cryopreserved by vitrification. If the patients became pregnant and have healthy live births, the patients...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2011.11.002
更新日期：2012-02-01 00:00:00
abstract：:The effect of increasing donor body mass index (BMI) on clinical pregnancies was retrospectively analysed in a cohort of consecutive 2722 donor oocyte IVF cycles. The relationship between donor BMI and clinical pregnancies was assessed after adjusting for recipient BMI. Clinical pregnancy rates and live birth rates (L...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.07.019
更新日期：2017-12-01 00:00:00
abstract：:Egg sharing remains a controversial practice, mainly because of the presumed element of payment. In order to find out to what extent financial considerations motivated the women to share their oocytes, the data on egg sharing in Belgium are analysed. Belgium began providing full reimbursement for six in-vitro fertiliz...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62009-3
更新日期：2006-07-01 00:00:00
abstract：:Glucose uptake was used as a measure of metabolic activity and implantation potential to compare vitrification and slow freezing in a prospective randomized trial using murine blastocysts. Frozen 2-cell embryos (n = 132) thawed and cultured for 48 h to the blastocyst stage were randomly divided into four groups: (i) c...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61168-6
更新日期：2005-11-01 00:00:00
abstract：:Post-operative adhesions are a significant complication of all abdominal surgical procedures. The major strategies for adhesion prevention in gynaecological surgery are focused on the optimization of surgical technique and use of anti-adhesive agents, which fall into two main categories: pharmacological agents and bar...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2010.04.021
更新日期：2010-09-01 00:00:00
abstract：:The aim of this study was, firstly, to define the different patterns of early cleavage (EC) observed at 26 h after either IVF or intracytoplasmic sperm injection (ICSI) and, secondly, to assess the predictive value of one of these patterns, even EC (EEC), on pregnancy rate in combination with day 2 embryo score. In th...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60870-x
更新日期：2007-03-01 00:00:00
abstract：:Over the past decade, the number of reported live births resulting from oocyte cryopreservation has rapidly increased. To appreciate the true number of children born, verified live births were tabulated and assessed. A literature search was performed; authors were then contacted to verify birth outcomes and provide up...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60025-9
更新日期：2009-06-01 00:00:00
abstract：:This paper draws on the findings of the first survey of surrogacy arrangements in Human Fertilisation and Embryology Authority (HFEA) licensed fertility clinics since 1998. Given the complex social, ethical and legal issues involved, surrogacy continues to raise debate worldwide and fuel calls for increased domestic p...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.06.009
更新日期：2015-09-01 00:00:00
abstract：:Modern contraception is considered to be one the major advances of the 20th century. Yet, as the next century begins, it is estimated that there is still a largely unmet need for contraception, with millions of couples worldwide who express a wish to limit the number of their children but do not use or are not satisfi...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61962-1
更新日期：2001-01-01 00:00:00
abstract：:Caesarean scar pregnancy is a dangerous condition that occurs when an embryo is implanted in a previous Caesarean scar. This condition has become more frequent as a direct consequence of the increased number of Caesarean sections reported worldwide. Timely diagnosis of this condition is fundamental, and allows a conse...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2014.06.017
更新日期：2014-11-01 00:00:00
abstract：:The aim of the current study was to examine the effects of granulocyte-macrophage colony-stimulating factor (GM-CSF) on the development and differentiation of preimplantation mouse embryos from different strains and under different culture conditions. Embryos from F1 hybrid mice were cultured in a modified G1 medium l...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60829-2
更新日期：2005-04-01 00:00:00
abstract：:Endocrine-disrupting chemicals are substances present in the environment that can interfere with normal hormonal balance and thus exert potentially adverse health effects on the human organism. Male reproductive system development and function may be susceptible to the effects of such environmental toxicants. Bispheno...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.02.005
更新日期：2013-05-01 00:00:00
abstract：:The aim of this study was to assess the performance of first-trimester combined screening when replacing the chronological maternal age by Anti-Müllerian hormone (AMH) and antral follicle count (AFC)-derived ovarian ages, as the background risk in trisomy risk estimation. A total of 639 pregnant women who completed fi...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.07.006
更新日期：2016-10-01 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：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：:The role of LH in ovarian stimulation continues to be controversial. Most observational studies on both gonadotrophin-releasing hormone (GnRH) agonist and GnRH antagonist protocols failed to show an effect on ongoing pregnancy likelihood of punctually measured 'low' or 'high' endogenous LH concentrations during ovaria...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61990-6
更新日期：2006-04-01 00:00:00
abstract：:Preimplantation genetic diagnosis (PGD) is an increasingly common adjunct to IVF. The information gained from PGD may be used to reduce the incidence of chromosomally abnormal pregnancies and augment the current selection process of embryos. As such, patients may choose to utilize PGD in either fresh or cryopreserved ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.06.021
更新日期：2012-11-01 00:00:00
abstract：:This paper examines the regulatory framework currently governing the creation of animal-human hybrids and chimera embryos in stem cell research, and some of the ethical implications of such research. It discusses the findings of a recent government select committee that considered the topic. It considers the debate ar...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60187-3
更新日期：2008-01-01 00:00:00
abstract：:This paper presents the Danish 10-year experience (1999-2009) with cryopreservation (n=386) and autotransplantation of ovarian tissue (n=18). Before applying the technique to humans, the method was thoroughly tested and validated. The cryoprotectant solution was chosen after histological evaluation of mouse and human ...
journal_title：Reproductive biomedicine online
pub_type： 历史文章,杂志文章
doi：10.1016/j.rbmo.2010.10.015
更新日期：2011-02-01 00:00:00
abstract：:Human cloning, organ cloning and tissue cloning are various types of cloning that occur at different levels with different methodologies. According to three standards of terminology for an embryo (fertilization through germ cells, development in the uterus and having the potential to produce a human life), tissue clon...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61292-8
更新日期：2005-07-01 00:00:00
