Abstract:
PURPOSE:To investigate the relation between mutations in ciliopathy-related SPAG6 and RSPH3 and male infertility with severe asthenoteratospermia characterized by multiple flagellar malformations and reveal the intracytoplasmic sperm injection (ICSI) outcomes of those primary ciliary dyskinesia (PCD) patients. METHODS:Whole-exome sequencing was applied to identify the pathogenic genes for the five PCD patients. The ICSI outcomes of those patients were compared with eight DNAH1-mutated patients and 215 oligo-asthenospermia (OAT) patients. RESULTS:We identified, for the first time, the compound heterozygous SPAG6 mutations (c.143_145del: p.48_49del, c.585delA: p.Lys196Serfs*6) in a sporadic PCD patient. Further, a novel homozygous nonsynonymous RSPH3 mutation (c.C799T: p.Arg267Cys) was identified in another PCD patient with consanguineous parents. The pathogenicity of these mutations in the assembly of sperm flagella was confirmed by flagellar ultrastructure analysis, immunofluorescence, and quantitative real-time PCR. All five patients underwent six ICSI cycles. The fertilization rate, blastocyst development rate, and clinical pregnancy rate were 69.3%, 50.0%, and 66.7%, respectively. Four of the five couples, including the subjects carrying mutations in SPAG6 or RSPH3, got healthy children born after ICSI. Additionally, the ICSI outcomes of the five PCD couples were statistically comparable with those of the eight DNAH1-mutated couples and the 215 OAT couples. CONCLUSIONS:Mutations in ciliopathy-related SPAG6 and RSPH3 cause severe asthenoteratospermia characterized by multiple flagellar malformations, resulting in sterility. ICSI is an optimal management with a positive pregnancy outcome.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Wu H,Wang J,Cheng H,Gao Y,Liu W,Zhang Z,Jiang H,Li W,Zhu F,Lv M,Liu C,Tan Q,Zhang X,Wang C,Ni X,Chen Y,Song B,Zhou P,Wei Z,Zhang F,He X,Cao Ydoi
10.1007/s10815-020-01721-wsubject
Has Abstractpub_date
2020-04-01 00:00:00pages
829-840issue
4eissn
1058-0468issn
1573-7330pii
10.1007/s10815-020-01721-wjournal_volume
37pub_type
杂志文章abstract:OBJECTIVE:Combination of transcriptomic and retrospective clinical data, to assess anti-Mullerian hormone (AMH) functionality at a cumulus cell level and evaluate AMH potential as a suitable marker for IVF outcomes (oocytes retrieved, number of day 3 embryos, gestation outcomes). DESIGN:Raw RNA-sequencing data of cumu...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01802-w
更新日期:2020-07-01 00:00:00
abstract:PURPOSE:To use conflict resolution analysis on the conflict between proponents and opponents of preimplantation genetic testing for aneuploidy (PGT-A), previously called preimplantation genetic screening (PGS). METHODS:Considered in conflict analysis a case study, we reviewed the English literature based on key-word s...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01688-8
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:The exact chemical composition of hydrosalpingeal fluid is unknown. The objective of this study was to characterize cytokines in hydrosalpingeal fluid (HSF) and examine their possible role in the embryo development. STUDY DESIGN:HSF was aspirated at laparoscopic salpingectomy in eight infertile women. Levels...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-4913-7
更新日期:2005-04-01 00:00:00
abstract:PURPOSE:To determine whether between-trial heterogeneity in relative risk of fertilisation for intracytoplasmic sperm injection (ICSI) compared to in vitro fertilisation (IVF) can be explained by learning or by between-trial variation in patient characteristics. METHODS:Systematic review and meta-analysis of trials co...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s10815-005-9004-2
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:Apart from freezing/thawing related cryodamage, several additional factors have been identified as major players in the reduction of success rates after frozen embryo transfers. The post-thaw culture is particularly relevant as it may amplify environmental influences over a stressed embryo. In the present study...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9793-z
更新日期:2012-08-01 00:00:00
abstract:PURPOSE:To report on successful birth after the transfer of postthawed human zygotes that were vitrified using a conventional straw for the purpose of protecting them from infections and a low-toxicity cryoprotectant that is commercially sold. METHODS:A primary infertile couple presented at our IVF program. After bein...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-0818-8
更新日期:2005-01-01 00:00:00
abstract:PURPOSE:We investigated antioxidant effects of CoQ10 supplementation on the prevention of OS-induced ovarian damage and to evaluate the protective effect of such supplementation against OS-related DNA damage. METHODS:Twenty-four adult female Sprague-Dawley rats were randomly divided into three groups (8 rats per group...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0751-z
更新日期:2016-09-01 00:00:00
abstract:PURPOSE:Our objective was to determine the effect of experience on the results with intracytoplasmic sperm injection. METHODS:The quarterly outcome with both ICSI and traditional in vitro fertilization (IVF) in 1994 was analyzed in 475 patients under age 40 undergoing 595 oocyte retrievals. The data represent 307 pati...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02066532
更新日期:1996-07-01 00:00:00
abstract:PURPOSE:We attempted to identify the genes involved in the pathogenesis of uterine leiomyomas, under a hypothesis that the aberrant expression of upstream regulatory genes caused by aberrant DNA methylation is involved in the onset and development of uterine leiomyomas. METHODS:To find such genes, we compared genome-w...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01582-y
更新日期:2019-11-01 00:00:00
abstract:PURPOSE:karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus. METHODS:328 cases of pregnancy losses were studied by kary...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-010-9460-1
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To investigate the influence of sperm DNA integrity on the zona binding ability of mouse spermatozoa in relation to their sex chromosomal constitution. METHOD(S):In this prospective experimental study, the sperm DNA fragmentation was induced by exposing testicular area of Swiss Albino mice (Mus musculus) to di...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0123-x
更新日期:2013-12-01 00:00:00
abstract:PURPOSE:To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). METHODS:Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected P...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01919-y
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:To ascertain possible cell damage from cryopreservation, the ultrastructure of human oocytes cryopreserved by slow cooling was assessed. MATERIALS AND METHODS:Cryopreservation was performed through two protocols with one-step or two-step propanediol. Fresh control oocytes were examined for comparison. Samples ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-010-9394-7
更新日期:2010-04-01 00:00:00
abstract:PURPOSE:The purpose of this study was to evaluate the best protocol to prepare endometrium for frozen embryo replacement (FER) cycles. METHODS:This study is a systematic review and meta-analysis. Following PubMed and OvidSP search, a total of 1166 studies published after 1990 were identified following removal of dupli...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10815-016-0787-0
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Polycystic ovary syndrome (PCOS) is a common complex genetic endocrinopathy. It has high heritability, and twin studies indicate that it is a complex polygenic disorder. Searching for major genes of PCOS is crucial to clarify its molecular pathogenesis. A previous genome-wide association study in Chinese wom...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9979-z
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the feasibility of adjusted mitochondrial DNA quantification in human embryos as a biomarker for implantation potential. DESIGN:Double-blind, observational, prospective analysis of an Asian population in a single university-affiliated in vitro fertilization center. A total of 1617 embryos derived...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01542-6
更新日期:2019-09-01 00:00:00
abstract:PURPOSE:This study was aimed at investigating the diagnostic value of maternal serum C-reactive protein (CRP) in the recognition of chorioamnionitis in patients undergoing fetal reduction. METHODS:Seventy-one gravidas with high-order multifetal pregnancies, including 46 with triplets, 18 with quadruplets, and 7 with q...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1016684605522
更新日期:2001-06-01 00:00:00
abstract:PURPOSE:To determine the pattern of expression of parathyroid hormone-related protein (PTHrP) and its receptor, parathyroid hormone receptor 1 (PTHR1), in mouse embryos in different stages of preimplantation development. METHODS:Embryos were cultured from the pronuclear zygote stage and harvested as 2-cell, 4-cell and...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0094-y
更新日期:2013-08-01 00:00:00
abstract:PURPOSE:In fresh IVF cycles, embryos reaching the eight-cell stage on day 3 of development are thought to have a higher chance of implantation than those reaching this stage on day 4. To determine whether this difference persists after cryopreservation, we compared pregnancy and implantation rates between frozen embryo...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0561-8
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:Our objective was to obtain parthenogenetic activation of unfertilized human oocytes by puromycin and to try to use this procedure for cytogenetic purposes. SETTING:The setting was our IVF laboratory. METHODS:Eighty-two spare oocytes from 34 IVF patients were used. In the first series of experiments 39 unfe...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01203955
更新日期:1992-08-01 00:00:00
abstract:PURPOSE:Few published articles have compared initial hCG values across all different types of ART cycles, including cycles with fresh or frozen embryo transfer. No articles have compared initial hCG values in cycles utilizing preimplantation genetic screening (PGS). The purpose of this study is to compare initial hCG v...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0987-2
更新日期:2017-10-01 00:00:00
abstract:PURPOSE:The aim of the present study is to investigate role of FoxO transcription factors in preimplantation embryo development by knocking down FoxO1, FoxO3, and FoxO4 genes and also to assess cell cycle arrest related proteins, p53 and p21, and apoptosis-related proteins, fas ligand (FASL), and cleaved caspase 3. ME...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01555-1
更新日期:2019-10-01 00:00:00
abstract::Embryos diagnosed as abnormal in Preimplantation Genetic Diagnosis (PGD) cycles are useful for the establishment of human Embryonic Stem Cells (hESC) lines with genetic disorders. These lines can be helpful for drug screening and for the development of new treatments. Vitrification has proved to be an efficient method...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9820-0
更新日期:2012-10-01 00:00:00
abstract::In an attempt to assess the effect of perfluorinated compounds (PFC) on oocytes quality and fertilization rate, we studied follicular fluid (FF) PFC levels in 18 patients undergoing IVF-ET cycles. A significant correlation (R = 0.75; P < 0.001) was observed between FF PFC levels and fertilization rate. Moreover, patie...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-011-9548-2
更新日期:2011-05-01 00:00:00
abstract:PURPOSE:To observe the differences in pregnancy rates (PRs), delivery rates, and abortion rates associated with frozen-embryo-transfer (FET)-based use of post-thawing embryos with different numbers of blastomeres. METHODS:959 FET cycles and 361 successful FET cycles performed between January 2007 and December 2007. Co...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-009-9360-4
更新日期:2009-11-01 00:00:00
abstract:PURPOSE:To assess the efficacy of a protocol involving the discontinuation of the GnRH analogue at the mid-phase of ovarian stimulation for IVF in patients with a previous poor response. METHODS:Prospective case-control evaluation compared with same patient's previous performance. Thirty-six patients enrolled in an IV...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1009476411762
更新日期:2001-04-01 00:00:00
abstract:PURPOSE:To study the effect of CYP17a inhibitor, "ketoconazole," on clomiphene responsiveness in PCOS patients. METHODS:Prospective analysis was employed with the setup at Alexandria IVF/ICSI center. Ninety-seven insulin-resistant PCOS patients undergoing ovulation induction using clomiphene citrate were randomly divi...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1013165006406
更新日期:2001-11-01 00:00:00
abstract:PURPOSE:We previously reported associations between trace concentrations of Hg, Cd and Pb in blood and urine and reproductive outcomes for women undergoing in-vitro fertilization (IVF). Here we assess measurements in single follicular fluid (FF) specimens from 46 women as a presumably more relevant marker of dose for r...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9882-z
更新日期:2012-12-01 00:00:00
abstract::The incorporation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing into patient care algorithms has been proposed to mitigate risk. However, the two main professional societies for human reproduction (ESHRE and ASRM) appear divergent on their clinical utility and whether they should be adopted. ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-020-01887-3
更新日期:2020-08-01 00:00:00
abstract::Achieving successful somatic cell nuclear transfer (SCNT) in the human and subhuman primate relative to other mammals has been questioned for a variety of technical and logistical issues. Here we summarize the gradual evolution of SCNT technology from the perspective of oocyte quality and cell cycle status that has re...
journal_title:Journal of assisted reproduction and genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1007/s10815-013-0053-7
更新日期:2013-08-01 00:00:00