Abstract:
OBJECTIVE:To review the discovery of chromothripsis and analyze its impact on human reproduction. DESIGN:Database and literature analysis. SETTING:University hospital. PATIENT(S):Carriers of massive and complex chromosomal rearrangements. INTERVENTION(S):Cytogenetic analysis and molecular testing (fluorescence in situ hybridization, microarray, whole-genome sequencing). MAIN OUTCOME MEASURE(S):Chromothripsis occurrence in human gametes and preimplantation embryos, with regard to the potential causative mechanisms described in literature. RESULT(S):Databases were searched for the literature published up to March 2014. Chromothripsis is characterized by the shattering of one (or a few) chromosome segments followed by a haphazard reassembly of the fragments generated, arising through a single initial catastrophic event. Several mechanisms involving abortive apoptosis, telomere erosion, mitotic errors, micronuclei formation, and p53 inactivation might cause chromothripsis. The remarkable point is that all these plausible mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and the genesis of chromosomal abnormalities. Specific features of gametogenesis and early embryonic development such as the weakness of cell cycle and mitosis checkpoints and the rapid kinetics of division in germ cells and early cleavage embryos may contribute to the emergence of chromothripsis. CONCLUSION(S):The discovery of this new class of massive chromosomal rearrangement has deeply modified our understanding on the genesis of complex genomic rearrangements. Data presented in this review support the assumption that chromothripsis could operate in human germlines and during early embryonic development. Chromothripsis might arise more frequently than previously thought in both gametogenesis and early human embryogenesis.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Pellestor F,Gatinois V,Puechberty J,Geneviève D,Lefort Gdoi
10.1016/j.fertnstert.2014.09.006subject
Has Abstractpub_date
2014-12-01 00:00:00pages
1785-96issue
6eissn
0015-0282issn
1556-5653pii
S0015-0282(14)02158-Xjournal_volume
102pub_type
杂志文章,评审abstract::A retrospective review of 237 initial, fresh nondonor IVF cycles in which all embryos generated during the cycle were transferred on either day 2 (n = 109) or day 3 (n = 128) were evaluated with regards to reproductive outcomes. Patients who underwent a day 2 ET had similar conception (18% vs. 16%; relative risk [RR],...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.10.010
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:To review osteoporosis, a disease characterized by low bone mass, microarchitectural deterioration of bone tissue leading to increased bone fragility and a consequent increase in fracture risk. The disorder has become a major health problem in the West, where increased life expectancy has placed new emphasis ...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:
更新日期:1994-12-01 00:00:00
abstract::The thing that hath been, it is that which shall be; and that which is done is that which shall be done: and there is no new thing under the sun. -Ecclesiastes 1:9, King James Bible. ...
journal_title:Fertility and sterility
pub_type: 社论
doi:10.1016/j.fertnstert.2018.02.114
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:To present a rare case of endometrial stromal sarcoma arising in endometriosis of the rectovaginal septum. DESIGN:Case report. SETTING:Academic tertiary referral center for endometriosis treatment. PATIENT(S):A 50-year-old woman with a history of endometriosis presented with catamenial rectal pain and deep...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2003.09.053
更新日期:2004-04-01 00:00:00
abstract::Anatomic distances along retroperitoneal, inguinal, and infrainguinal segments of the vas deferens were measured in 14 formalin fixed cadavers and in 15 recently postmortem males. There were no significant differences in segment lengths between the two groups nor between the right and left vasa. Data from the recent p...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53959-4
更新日期:1990-11-01 00:00:00
abstract:OBJECTIVE:To present and determine the impact of the Mindfulness-Based Program for Infertility (MBPI). DESIGN:Controlled clinical trial. SETTING:University research unit. PATIENT(S):Fifty-five infertile women completed the MBPI, and 37 infertile women were assigned to a control group. INTERVENTION(S):The MBPI inclu...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2013.05.036
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:To analyze the expression of estrogen (ER) and progesterone (PR) receptors in the smooth muscle component (SMC) of deep infiltrating endometriosis (DIE). DESIGN:A prospective clinical and pathologic study of 60 cases of DIE. SETTING:University Hospital Department of Gynacology. PATIENT(S):Sixty patients wi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.12.114
更新日期:2010-04-01 00:00:00
abstract::Whereas the dose of hMG is significantly correlated with both BMI and BW, commencing the more obese patient on higher hMG doses is not justified in view of the cancellation of cycles from over-responsiveness in the more obese patients started on higher hMG dosage regimens. If the more obese patient is slow to respond,...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)55276-5
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVE:To report an update on the role of vitamin D (VD) in ovarian physiology with a focus on genes involved in steroidogenesis, follicular development, and ovarian reserve, as well as ovulatory dysfunction associated with polycystic ovary syndrome (PCOS), and ovarian response to assisted reproductive technology (A...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/j.fertnstert.2014.04.046
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVE:To determine whether mutations in the gene for FSH beta are present, and possibly etiologic, in some patients with 46,XX premature ovarian failure (POF). DESIGN:DNA samples obtained from 18 study patients with POF and two menopausal fertile controls were studied by Southern blot analysis. DNA sequencing was ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)56286-4
更新日期:1993-11-01 00:00:00
abstract::This study, which is concerned with establishing clinically relevant corridors defining normal progesterone (P) levels in saliva, has addressed some of the shortcomings associated with previous equivalent studies (e.g., limited data, inadequately monitored ovulations, inadequately defined subjects). A sensitive, direc...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)60366-7
更新日期:1988-12-01 00:00:00
abstract::Semen specimens were obtained for analysis from nine men immediately before vasectomy and 3 days following the vasectomy procedure. After vasectomy there was a significant decrease in seminal sperm concentration, percentage of sperm motility, and mean swimming speed. In seven of nine cases the spermatozoa did not surv...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)48262-2
更新日期:1984-12-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy and side effects of vaginal misoprostol with dinoprostone for cervical priming before operative hysteroscopy and to assess the cervicouterine complications related to cervical dilatation and hysteroscopic surgery. DESIGN:A prospective randomized study. SETTING:Tertiary university hos...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2006.03.039
更新日期:2006-10-01 00:00:00
abstract:OBJECTIVE:Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue. DESIGN:Case report. SETTING:Rural hospital setting. PATIENT(S):Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. La...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.09.027
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:To determine the rearrangement of mitochondrial DNA (mtDNA) in unfertilized human oocytes and compromised embryos to evaluate the fertilization capacity of oocytes. DESIGN:Prospective laboratory research. SETTING:IVF laboratory in a university hospital. PATIENT(S):One hundred twenty-four unfertilized oocyt...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(02)02994-1
更新日期:2002-05-01 00:00:00
abstract::The relationship between the presence or absence of an ovulation stigma and (1) the fertility status, (2) the incidence of endometriosis, (3) the concentration of progesterone and estradiol in the peritoneal fluid, and (4) the blood levels of luteinizing hormone, follicle-stimulating hormone, progesterone, and estradi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)47900-8
更新日期:1984-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the influence of somatostatin analogue (octreotide) in the function of hypothalamic-pituitary-adrenal (HPA) axis in women with polycystic ovary syndrome (PCOS). SETTING:Women referred to the Department of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore. PATIENT(S):Twelve PCOS wom...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(97)81852-3
更新日期:1997-01-01 00:00:00
abstract::To determine characteristics associated with regretting sterilization that can be determined preoperatively, we analyzed data from the Collaborative Review of Sterilization (CREST), a multicenter, prospective, observational study. Of 5022 women, 2.0% regretted having had a tubal sterilization at 1 year after the proce...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)48746-7
更新日期:1985-08-01 00:00:00
abstract:OBJECTIVE:To examine the implantation potential of embryos from assisted reproductive technology cycles with low embryo production and to assess the effects of clinical variables and embryo scores (ES) on pregnancy outcome. DESIGN:Prospective clinical study. SETTING:Assisted reproductive technology unit in a tertiary...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2003.05.011
更新日期:2003-12-01 00:00:00
abstract:OBJECTIVE:To assess the risk of cervical neoplasia associated with the use of ovulation-inducing agents such as clomiphene citrate (CC) DESIGN: Case-cohort study. SETTING:Infertility clinics in Seattle, Washington. PATIENTS:A cohort of 3,837 women evaluated for infertility at some time during 1974-1985. MAIN OUTCOME...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:To assess the clinical relevance of daily hormonal changes for achieving a successful pregnancy in anovulatory infertile women. DESIGN:A comparative study of hormonal dynamics in pregnant and nonpregnant cycles during the pulsatile subcutaneous administration of hMG. Subjects received subcutaneous injection ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)56093-2
更新日期:1993-08-01 00:00:00
abstract::Baboons were immunized using a synthetic peptide adjuvant with two purified pig zona pellucida glycoproteins. The major zona pellucida glycoprotein (ZPI) was purified by preparative isoelectric focusing, and the 80 K deglycosylated zona pellucida protein (ZPIII) was purified by preparative sodium dodecyl sulfate polya...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)60861-0
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:To determine the ability of interleukin 10 (IL-10) to suppress postoperative intraperitoneal adhesion formation. DESIGN:Randomized, controlled trial. SETTING:University animal research facility. ANIMALS:Six-week-old Swiss Webster mice undergoing a standardized intraperitoneal operative procedure. INTERVEN...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)56769-7
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of the anti-P Org 31710 on human blastocyst attachment to cultured endometrial epithelial cells. DESIGN:Experimental in vitro study. SETTING:University hospital. PATIENT(S):Eleven fertile endometrial donors. INTERVENTION(S):Timed endometrial biopsy for cell cultures. MAIN OUTCOM...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.08.040
更新日期:2005-04-01 00:00:00
abstract::The preoperative use of a potent, subcutaneously injected gonadotropin-releasing hormone agonist (GnRH-a) was evaluated in a series of 60 women with large submucosal fibroids. Myomectomy by hysteroscopy and Nd:YAG laser was easily performed. In 12 cases, the largest portion of the myoma was not inside the uterine cavi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53994-6
更新日期:1990-12-01 00:00:00
abstract:OBJECTIVE:To investigate the diagnostic relevance of serum cytokine concentrations in ectopic pregnancy (EP). DESIGN:Cohort study. SETTING:University hospital. PATIENT(S):Seventeen women with EP, 22 women with miscarriage, and 33 women with normal intrauterine pregnancy, at comparable stages of gestation. INTERVENT...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(02)04853-7
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVE:To recover natural fertility of ewes that were subjected to ovarian failure induced by radiotherapy with an autologous orthotopic graft of cryopreserved germinative tissue. DESIGN:Experimental surgery study. SETTING:University hospital unit. ANIMAL(S):Adult ewes. INTERVENTION(S):Four ewes were submitted t...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2003.05.023
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:To describe the use of a Malecot catheter as a stent after radical trachelectomy (RT). DESIGN:Case report. SETTING:Assisted conception unit at a teaching hospital in the United Kingdom. PATIENT(S):A 36-year-old woman undergoing IVF after her cervix had been excised for cervical carcinoma. Previous attempts...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.11.081
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:To review current knowledge regarding recombinant DNA technology and its safety and efficacy in relation to recombinant gonadotropin production. DATA IDENTIFICATION AND SELECTION:Studies that relate specifically to recombinant DNA technology, method of laboratory production, and the clinical aspects of using...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/s0015-0282(16)58437-4
更新日期:1996-08-01 00:00:00
abstract:OBJECTIVE:To report the case of a patient submitted to laparoscopic bowel resection in whom histology revealed endometriosis and schistosomiasis. DESIGN:Case report. SETTING:Multidisciplinary group practice and teaching hospital. PATIENT(S):A 31-year-old patient with pelvic pain. INTERVENTION(S):Laparoscopic bowel ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.08.068
更新日期:2006-04-01 00:00:00