Abstract:
OBJECTIVE:To identify the gene(s) involved in the etiology of premature ovarian insufficiency in a highly consanguineous Tunisian family. DESIGN:Genetic analysis of a large consanguineous family with several affected siblings. SETTING:University hospital-based cytogenetics and molecular genetics laboratories. PATIENT(S):A highly consanguineous Tunisian family with several affected siblings born to healthy second-degree cousins. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):Targeted exome sequencing was performed by next-generation sequencing for affected family members. Mutations were validated by Sanger sequencing. Functional experiments were performed to explore the deleterious effects of the identified mutation. DNA damage was induced by increasing mitomycin C (MMC) concentrations on cultured peripheral lymphocytes. RESULT(S):Analysis of the next-generation sequencing data revealed a new homozygous missense mutation in the minichromosome maintenance 8 gene (MCM8).This homozygous mutation (c. 482A>C; p.His161Pro) was predicted to be deleterious and segregated with the disease in the family. MCM8 participates in homologous recombination during meiosis and DNA double-stranded break repair by dimerizing with MCM9. Mcm8 knock out results in an early block in follicle development and small gonads. Given this, we tested the chromosomal breakage repair capacity of homozygous and heterozygous MCM8 p.His161Pro mutation on cultured peripheral lymphocytes exposed to increasing MMC concentrations. We found that chromosomal breakage after MMC exposure was significantly higher in cells from homozygously affected individuals than in those from a healthy control. CONCLUSION(S):Our findings provide additional support to the view that MCM8 mutations are involved in the primary ovarian insufficiency phenotype.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Bouali N,Francou B,Bouligand J,Imanci D,Dimassi S,Tosca L,Zaouali M,Mougou S,Young J,Saad A,Guiochon-Mantel Adoi
10.1016/j.fertnstert.2017.07.015subject
Has Abstractpub_date
2017-10-01 00:00:00pages
694-702issue
4eissn
0015-0282issn
1556-5653pii
S0015-0282(17)30535-6journal_volume
108pub_type
杂志文章abstract::Immunocytochemical, biochemical, and histologic analysis of endometriotic lesions and endometria from rhesus macaques with endometriosis revealed several distinctions between ectopic and eutopic endometrium. In lesions, unlike endometrium, neither the mean percentages of estrogen receptor positive (ER+) cells nor the ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1988-02-01 00:00:00
abstract:OBJECTIVE:To determine the efficacy and safety of Repronex SC as compared with Repronex IM and Pergonal IM in patients undergoing IVF. DESIGN:Open-label, randomized, parallel-group, multicenter study. SETTING:Fifteen academic and private fertility clinics with IVF experience. PATIENT(S):Premenopausal women with regu...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0015-0282(00)00605-1
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:The embryo transfer is a critical part of in vitro fertilization. When performed under abdominal ultrasound guidance, the embryo transfer procedure requires a full bladder. Patients often state that the discomfort of the distended bladder causes more pain than the actual transfer procedure. Phenazopyridine HC...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2006.08.097
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that over a 4-week treatment period, Nal-Glu GnRH antagonist ([AcD2Nal1, D4ClPhe2, D3Pal3, Arg5, DGlu6 [AA], DAla10] GnRH) at a dose of 200 micrograms/kg per day SC would suppress levels of immunologically active and biologically active LH and FSH more completely than a dose of 100 micr...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1995-07-01 00:00:00
abstract::Forty-one subjects with hyperprolactinemia underwent testing on separate occasions with nomifensine, an indirectly acting dopamine agonist, and domperidone, a dopamine receptor-blocking agent. Nomifensine (200 mg orally) did not significantly modify plasma levels of prolactin (PRL) in 17 subjects in whom the existence...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45314-8
更新日期:1981-02-01 00:00:00
abstract:OBJECTIVE:To compare the rate of ectopic pregnancy (EP) with fresh versus frozen blastocyst transfer in our program during the same time period. DESIGN:Retrospective analysis. SETTING:University IVF program. PATIENT(S):Women who achieved a clinical pregnancy after IVF between 1998 and 2005. INTERVENTION(S):In our p...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.12.005
更新日期:2007-09-01 00:00:00
abstract::Our studies demonstrate significantly lower expression of relaxin and its receptor in ectopic endometriotic tissues than their expression in eutopic endometrium and in endometrium from normal controls. These data suggest that in normal and eutopic endometrium, relaxin may exert a protective effect against endometriosi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.06.051
更新日期:2010-12-01 00:00:00
abstract::Recent advances in laparoscopic surgery have enabled the gynecologic surgeon to treat an increased number of diseases of the reproductive organs by using the laser through the laparoscope. This article reviews the results of 243 patients with infertility associated with endometriosis ranging in severity from mild to e...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)60483-1
更新日期:1989-02-01 00:00:00
abstract:OBJECTIVE(S):To cryopreserve micromanipulated ooplast segments (microcytoplasts) from mouse oocytes, compare microcytoplast and parent or recipient oocyte fusion performed within or without the zona pellucida, compare electrofusion of fresh or frozen oocyte with frozen-thawed microcytoplasts, and assess spindle integri...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.07.1529
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVES:To assess the impact of a levonorgestrel-releasing implant contraceptive (Norplant; Wyeth-Ayerst Laboratories, Philadelphia, PA) on glucose metabolism. DESIGN:Prospective evaluation of insulin action and secretion in women under hyperglycemic hyperinsulinemic clamp conditions in the midfollicular phase befo...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of reoperation for stage III or IV endometriosis-related infertility versus IVF-ET. DESIGN:Retrospective analysis. SETTING:In vitro fertilization-embryo transfer unit and tertiary infertility clinic. PATIENTS:Twenty-three couples with stage III or IV endometriosis-related infertili...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/s0015-0282(16)58215-6
更新日期:1996-04-01 00:00:00
abstract:OBJECTIVE:To examine the results of a 3-year trial using blastocyst cryopreservation to limit multiple pregnancy and optimize overall pregnancy per cycle. DESIGN:Retrospective clinical evaluation of pregnancy rates after freezing and thawing human blastocysts. SETTING:Tertiary-care academic center. PATIENT(S):Seven ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.03.068
更新日期:2004-11-01 00:00:00
abstract::Dihydrotestosterone released continuously from a subcutaneously implanted Silastic elastomer was more potent than testosterone in reducing circulating gonadotropin and androgen concentrations and in inducing testicular atrophy and infertility despite normal ejaculatory function as judged by the presence of vaginal plu...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45566-4
更新日期:1981-06-01 00:00:00
abstract::Two successive intranasal doses (300 micrograms at 8:00 A.M. and 6:00 P.M.) of the luteinizing hormone-releasing hormone (LH-RH) agonist (D-Ser[TBU]6-des-Gly-NH2(10))LH-RH ethylamide (Buserelin) were administered on days 1 to 10 after the midcycle luteinizing hormone (LH) surge in 33 normally cycling women. Maximal st...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)47062-7
更新日期:1983-05-01 00:00:00
abstract::Chronic and transient hyperprolactinemia have been associated with luteal phase dysfunction in both spontaneously cycling women and those subjected to ovarian hyperstimulation by exogenous gonadotropins. It is the objective of the in vitro and in vivo studies reported herein to examine the possibility that prolactin (...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1987-07-01 00:00:00
abstract:OBJECTIVE:To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection (ICSI) candidates and in 50 consecutively seen azoospermic men attending an infertility clinic. DESIGN:Controlled clinical study. SETTING:Genetics laboratory and infertility clinic ...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/s0015-0282(98)00195-2
更新日期:1998-09-01 00:00:00
abstract::A double-blind randomized study was performed in two groups of eight normally cycling patients: group I received 10 mg/d of RU486 for 4 days from the date of ovulation and group II received a placebo. On day +5, cytosol and endometrial estrogen receptors (ERs), and progesterone receptors (PRs) were analyzed by radioli...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0015-0282(16)54183-1
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVE:To study the apparent association between interstitial fallopian tube polyps and isthmic tubal dilatation. DESIGN:Retrospective clinical study. SETTING:Tertiary academic medical center. PATIENT(S):Sixty-five patients with normal hysterosalpingograms and 40 patients with interstitial tubal polyps (25 unilat...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.10.049
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of a phosphodiesterase type 3 inhibitor in oocyte maturation medium on subsequent embryo development. DESIGN:Animal study. SETTING:University laboratory. ANIMAL(S):CD-1 mice. INTERVENTION(S):Immature oocytes were arrested meiotically in medium containing a specific phosphodiester...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.03.041
更新日期:2009-05-01 00:00:00
abstract::To histologically and biologically assess the impairment of testicular function after active immunization with LH, adult male rats (49) and rabbits (9) were actively immunized with bovine LH and then compared with saline-injected controls. When the measured antibody titer was high, the mating behavior of the males wa...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)38046-3
更新日期:1971-02-01 00:00:00
abstract:OBJECTIVE:Immunobead testing (IBT), the current standard for antisperm antibody detection, is time consuming and somewhat subjective. To overcome these limitations and maintain accuracy, we studied an immunofluorescent assay using flow cytometry. DESIGN:A validation study comparing flow cytometry to IBT in the detecti...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To determine the relationships between sperm acrosin activity, sperm morphology evaluated according to strict criteria, visually observed acrosomal morphology, and IVF rates. DESIGN:Prospective analytic study. Acrosin activity was determined on all semen samples together with a standard semen analysis. Empha...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)58167-9
更新日期:1996-03-01 00:00:00
abstract::A retrospective study of 254 infertile men with serum sperm agglutination titers ranging from 4 to 1024 determined by the Kibrick agglutination test between 1954 and 1968 and reexamined in the 1970s is presented. 36 of the subjects had become fertile in the years following the testing, 30 of whom were normospermic. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)40388-2
更新日期:1974-05-01 00:00:00
abstract:OBJECTIVE:Assisted hatching may enhance embryo implantation. This study was conducted to examine the efficacy of the laser- and chemical-assisted hatching for promotion of implantation (IR), pregnancy (PR), and delivery rate (DR) in older women undergoing IVF cycles. DESIGN:Prospective study. SETTING:An IVF unit of a...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0015-0282(02)03172-2
更新日期:2002-07-01 00:00:00
abstract::The authors evaluated 774 endometrial biopsies that were performed for infertility. Complications arose in 3.6%. Lag of more than 2 days was found in 19%; luteal phase defect (LPD) was diagnosed in 5.7%. Most of the incidence of LPD can be predicted from chance occurrence. There was no association between abnormal bio...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)59528-4
更新日期:1987-11-01 00:00:00
abstract::The cumulative conception rate of 31 infertile women undergoing a second tuboplasty using microsurgery was compared with that 71 women undergoing a single microsurgical tuboplasty. The follow-up period ranged from ranged from 1 to 61/2 years. Five (16%) of the patients in the repeat tuboplasty group conceived; there w...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45979-0
更新日期:1982-01-01 00:00:00
abstract:OBJECTIVE:To describe a rare case of a cervico-isthmic pregnancy with anterior placenta percreta that was treated at 34 weeks of gestation by removing the placenta and the attached uterine wall in one piece. DESIGN:Case report. SETTING:Tertiary university hospital. PATIENT(S):A 32-year-old woman was diagnosed with a...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2007.06.007
更新日期:2008-06-01 00:00:00
abstract::For those patients who have multiple pregnancies there are several considerations that must be made. When the pregnancies are the result of induced ovulation there is a significant iatrogenic element. Counselling must be provided for couples throughout the entire process. From the beginning of the inductio n pr...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53689-9
更新日期:1990-08-01 00:00:00
abstract::Klemetti's birth registry study is put in context of other major studies. Summary advice is offered to practitioners as to what they should tell parents who conceive with assisted reproductive technology. ...
journal_title:Fertility and sterility
pub_type: 评论,信件
doi:10.1016/j.fertnstert.2005.04.067
更新日期:2005-11-01 00:00:00
abstract::Because spermatocyte meiotic error results in embryonic sex chromosomal aneuploidy, it is speculated that teratospermia correlates with increased embryonic sex chromosomal abnormalities. Our findings contradict this theory, suggesting that morphology does not correlate with sex chromosomal genotype. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.07.1006
更新日期:2010-02-01 00:00:00