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Reproductive Biomedicine Online

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https://www.readbyqxmd.com/read/29223476/fecundity-in-an-infertile-man-with-r-15-a-challenge-to-the-current-paradigm
#1
Hamid Kalantari, Hamideh Karimi, Seyed Navid Almadani, Mostafa Fakhri, Pegah Mokhtari, Hamid Gourabi, Anahita Mohseni Meybodi
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29217128/circulating-irisin-in-patients-with-polycystic-ovary-syndrome-a-meta-analysis
#2
Xue Cai, Shanhu Qiu, Ling Li, Martina Zügel, Jürgen Michael Steinacker, Uwe Schumann
There is growing interest in exploring circulating (plasma/serum) irisin in polycystic ovary syndrome (PCOS) patients. This meta-analysis aimed to summarize the evidence assessing circulating irisin changes in this population. A systematic search was conducted in three databases: PubMed, Cochrane Library and Web of Science, for studies reporting irisin in PCOS patients compared with healthy controls or stratified by body mass index (BMI), or assessing irisin response to hyperinsulinemia. Effect sizes (Cohen's d with 95% confidence intervals [CI]) were calculated using random-effects models...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29203382/thirteen-years-experience-of-893-pgd-cycles-for-monogenic-disorders-in-a-publicly-funded-nationally-regulated-regional-hospital-service
#3
Anne Girardet, Aliya Ishmukhametova, Victoria Viart, Stéphanie Plaza, Florielle Saguet, Garance Verriere, Samir Hamamah, Isabelle Coupier, Emmanuelle Haquet, Tal Anahory, Marjolaine Willems, Mireille Claustres
This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context of a fully financially covered service at Montpellier's regional hospital centre. Within the framework of a restrictive law ruling PGD in France, only the parental genetic risk can be studied in embryos (concurrent aneuploidy screening is not allowed). PCR-based techniques were developed combining mutation detection and closely linked short tandem repeat markers within or flanking the affected genes, and set up more than 100 different robust fluorescent multiplex assays for 61 monogenic disorders...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29203384/do-endometriomas-grow-during-ovarian-stimulation-for-assisted-reproduction-a-three-dimensional-volume-analysis-before-and-after-ovarian-stimulation
#4
Ayse Seyhan, Bulent Urman, Engin Turkgeldi, Baris Ata
Whether endometriomas grow because of supraphysiological oestradiol levels attained during ovarian stimulation for assisted reproduction techniques is a concern. In this prospective study, 25 women with 28 endometriomas underwent three-dimensional ultrasound using sono-automated volume calculation software. Endometrioma volume was measured on the first day of gonadotrophin injection (V1) and the day of ovulation trigger (V2). Nine (36%) women were stimulated in a gonadotrophin releasing hormone antagonist protocol (GnRH), 13 (52%) in a long, and three (12%) in an ultra-long GnRH agonist protocol...
November 17, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29212605/artificial-blastocoel-collapse-of-human-blastocysts-before-vitrification-and-its-effect-on-re-expansion-after-warming-a-prospective-observational-study-using-time-lapse-microscopy
#5
Borut Kovačič, Marjan Taborin, Veljko Vlaisavljević
Vitrified human blastocysts show varied re-expansion capacity after warming. This prospective observational study compared behaviour of artificially collapsed blastocysts (study group patients, n = 69) to that of blastocysts that were vitrified without artificial collapse (control group patients, n = 72). Warmed blastocysts were monitored by time-lapse microscopy and blastocoel re-expansion speed and growth patterns compared between study and control groups. These parameters were also retrospectively compared between blastocysts that resulted in live birth and those that failed...
November 15, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29198424/the-uterine-fibroid-myoma-tumour-analysis-of-the-global-research-architecture-using-density-equalizing-mapping
#6
Dörthe Brüggmann, Frank Louwen, Tatjana Braun, Doris Klingelhöfer, Jan Bauer, Michael H Bendels, Matthias Bundschuh, David Quarcoo, Jenny Jaque, Eileen M Wanke, David A Groneberg
Uterine fibroids can severely impact a woman's quality of life, result in significant morbidity and are a leading indication for hysterectomy. Many aspects of the disease remain largely obscure. Despite these knowledge gaps, no detailed maps of the global fibroid research architecture have yet been generated. This study used the NewQIS approach to assess worldwide research productivity, encompassing numerous aspects of the scientific output, quality and socioeconomic features. Regression analysis indicated an increase in fibroid research activity in the investigated time periods...
November 15, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29198423/fertility-protection-complications-of-surgery-and-results-of-removal-and-transplantation-of-ovarian-tissue
#7
Matthias W Beckmann, Ralf Dittrich, Laura Lotz, Karin van der Ven, Hans H van der Ven, Jana Liebenthron, Matthias Korell, Torsten Frambach, Marc Sütterlin, Roxana Schwab, Stefan Seitz, Andreas Müller, Michael von Wolff, Felix Häberlin, Melanie Henes, Katharina Winkler-Crepaz, Jan S Krüssel, Ariane Germeyer, Bettina Toth
Fertility-preserving measures are becoming important for patients receiving oncological treatment. One method involves cryopreservation of ovarian tissue and transplanting it when treatment is completed. We report complications resulting from surgical and fertility medicine, and the results of procedures for the removal and transplantation of ovarian tissue carried out within the FertiProtekt network. A survey using a structured questionnaire was conducted among the FertiProtekt network centres between November 2015 and June 2016...
November 9, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29203383/comprehensive-chromosomal-and-mitochondrial-copy-number-profiling-in-human-ivf-embryos
#8
Wei Shang, Yunshan Zhang, Mingming Shu, Weizhou Wang, Likun Ren, Fu Chen, Lin Shao, Sijia Lu, Shiping Bo, Shujie Ma, Yumei Gao
Single cell whole genome sequencing helps to decipher the genome heterogeneity within a cell population and facilitates the analysis of trace amounts of genetic material, such as is found in human embryos. The mitochondrial genome, although an important part of the genetic composition of eukaryotic cells, is often neglected in single cell genome analysis. A recently developed single cell whole genome amplification method was used, known as multiple annealing and looping based amplification cycles (MALBAC-NGS), for simultaneous analysis of chromosomal and mitochondrial genomes at the single cell level...
November 8, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29169850/family-based-analysis-of-ggt1-and-hnf1a-gene-polymorphisms-in-patients-with-polycystic-ovary-syndrome
#9
Xinghua Xu, Lang Qin, Ye Tian, Min Wang, Guangyao Li, Yanzhi Du, Zi-Jiang Chen, Weiping Li
Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disease. Previous studies indicate that genes GGT1 and HNF1A may contribute to the abnormal glucose metabolism and altered lipid profile that are important clinical features of PCOS. In the current study, the correlation between polymorphisms in the GGT1 and HNF1A genes and PCOS was explored. A total of 310 family trios were studied and the transmission disequilibrium test (TDT) was used to assess the linkage between PCOS and three single-nucleotide polymorphisms (SNP) (rs4820599 of GGT1, rs7305618 and rs2393791 of HNF1A)...
November 7, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29129407/finding-a-place-for-corifollitropin-within-the-pivet-fsh-dosing-algorithms
#10
John L Yovich, Kevin N Keane, Gayatri Borude, Satvinder S Dhaliwal, Peter M Hinchliffe
PIVET recombinant FSH (rFSH) dosing algorithms have been designed for rFSH injection pens, providing optimal pregnancy and live birth productivity rates whilst minimizing risk and occurrence of ovarian hyperstimulation syndrome (OHSS). Recently, long-acting recombinant gonadotrophin corifollitropin (Elonva) was approved for use in assisted reproduction, and welcomed by patients as the single injection allowed ovarian stimulation over 7 days without need for multiple injections. Consequently, another rFSH dosing algorithm was devised to incorporate Elonva, and these cycles were compared to standard rFSH agents, Gonal-f and Puregon...
October 31, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29191758/the-association-between-experiences-with-patient-centred-care-and-health-related-quality-of-life-in-women-with-endometriosis
#11
Silke Apers, Eline A F Dancet, Johanna W M Aarts, Kirsten B Kluivers, Thomas M D'Hooghe, Willianne L D M Nelen
In this cross-sectional study, we investigated whether patient-centred endometriosis care (PCEC) is associated with health-related quality of life (HRQOL). Dutch-speaking women with endometriosis, treated by laparoscopy in a university clinic between 2009 and 2010, were eligible (n = 194). Endometriosis Health Profile-30 and ENDOCARE questionnaire were used to assess HRQOL and PCEC, respectively. Overall and subscale scores were converted to a scale from 0 (best score) to 100 (worst score). Linear regression analyses were conducted while controlling for confounders...
October 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29169851/a-novel-homozygous-mutation-of-bone-morphogenetic-protein-15-identified-in-a-consanguineous-marriage-family-with-primary-ovarian-insufficiency
#12
Wei Zhang, Jing Wang, Xi Wang, Lin Li, Hong Pan, Beili Chen, Ying Zhu, Tengyan Li, Yunxia Cao, Binbin Wang
The aim of this study was to explore the pathogenic gene in a primary ovarian insufficiency (POI) patient from a consanguineous marriage family. The proband and her healthy mother were selected for whole-exome sequencing. By applying a strict filtering strategy, we found a novel homozygous missense mutation, c.G1070A (p.C357Y), of BMP15 in the proband, whereas her mother was heterozygous for this mutation. The mutation was highly conserved among species and predicted to be disorder causing. This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI...
October 26, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29174167/progress-in-the-diagnosis-and-management-of-adolescent-endometriosis-an-opinion
#13
REVIEW
Giuseppe Benagiano, Sun-Wei Guo, Patrick Puttemans, Stephan Gordts, Ivo Brosens
Increasing evidence indicates that early onset endometriosis (EOE), starting around menarche or early adolescence, may have an origin different from the adult variant, originating from neonatal uterine bleeding (NUB). This implies seeding of naïve endometrial progenitor cells into the pelvic cavity with NUB; these can then activate around thelarche. It has its own pathophysiology, symptomatology and risk factors, warranting critical management re-evaluation. It can also be progressive, endangering future reproductive capacity...
October 25, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29223475/insights-from-clinical-experience-in-treating-ivf-poor-responders
#14
REVIEW
Kelly J Gonda, Alice D Domar, Norbert Gleicher, Richard P Marrs
'Poor responders' is a term used to describe a subpopulation of IVF patients who do not respond well to ovarian stimulation with gonadotrophins. While there is no standard definition of a poor responder, these patients tend to be of advanced maternal age (≥40 years), have a history of poor ovarian response with conventional stimulation protocols, and/or have low ovarian reserve. Despite the heterogeneity of this patient group, there are characteristics and needs common to many poor responders that can be addressed through a holistic approach...
October 24, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29100809/comments-on-the-eshre-recommendations-for-the-treatment-of-minimal-endometriosis-in-infertile-women
#15
Angelos Daniilidis, George Pados
According to ESHRE recommendations for women with stage I/II endometriosis, if a decision is made to proceed to laparoscopy then operative laparoscopy (excision or ablation of the endometriotic lesions) should be performed rather than only diagnostic laparoscopy, to increase ongoing pregnancy rates. Also, for infertile women with stage I/II endometriosis doctors may consider complete surgical removal of endometriosis to improve live birth rate prior to assisted reproductive treatment. This last recommendation is not well established...
October 23, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29102428/gnrha-trigger-and-luteal-coasting-a-new-approach-for-the-ovarian-hyperstimulation-syndrome-high-risk-patient
#16
Barbara Lawrenz, Peter Humaidan, Shahar Kol, Human M Fatemi
Final oocyte maturation using gonadotrophin-releasing hormone agonist (GnRHa) is increasingly common as it almost eliminates the risk of developing ovarian hyperstimulation syndrome (OHSS) in high-responder patients. The first studies using this approach showed a poor reproductive outcome when only vaginal progesterone was used as luteal phase support, due to the luteolysis that will develop as a result of LH withdrawal. Timely luteal administration of human chorionic gonadotrophin (HCG) will counterbalance the low LH concentrations and therefore maintain progesterone production from the corpora lutea, however, some patients with a high number of follicles will develop OHSS using this approach...
October 14, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29079195/extragonadal-primordial-germ-cells-or-placental-progenitor-cells
#17
Karen M Downs
Primordial germ cells (PGCs), the precursors of the gametes, are now claimed to segregate within the extra-embryonic tissues of three species of placental mammals. In this brief Commentary, I raise the question of whether the so-called PGCs are not PGCs at all, but rather, progenitor cells that build the fetal-placental interface in Placentalia.
October 14, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29111311/establishment-and-validation-of-a-score-to-predict-ovarian-response-to-stimulation-in-ivf
#18
Clelia Chalumeau, Jessika Moreau, Nicolas Gatimel, Clementine Cohade, Florence Lesourd, Jean Parinaud, Roger Leandri
This study aimed to integrate clinical and biological parameters in a score able to predict ovarian response to stimulation for IVF in gonadotrophin-releasing hormone (GnRH) antagonist protocols. A progressive discriminant analysis to establish a score including the main clinical and biological parameters predicting ovarian response was performed by retrospectively analysing data from the first ovarian stimulation cycle of 494 patients. The score was validated in a prospectively enrolled, independent set of 257 patients undergoing their first ovarian stimulation cycle...
October 12, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29102484/repeated-implantation-failure-at-the-crossroad-between-statistics-clinics-and-over-diagnosis
#19
Edgardo Somigliana, Paola Vigano, Andrea Busnelli, Alessio Paffoni, Walter Vegetti, Paolo Vercellini
The most common definition of repeated implantation failure (RIF) is the failure to obtain a clinical pregnancy after three completed IVF cycles. This definition, however, may lead to misuse of the diagnosis. To disentangle this, we set up a mathematical model based on the following main assumptions: rate of success of IVF constant and set at 30%; and RIF postulated to be a dichotomous condition (yes or no) with a prevalence of 10%. On this basis, the expected cumulative chance of pregnancy after three and six cycles was 59% and 79%, respectively...
October 12, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29079197/clinical-outcomes-after-preimplantation-genetic-diagnosis-of-patients-with-corino-de-andrade-disease-familial-amyloid-polyneuropathy
#20
Rita Lopes, Mário Sousa, Joaquina Silva, Mariana Cunha, Cristiano Oliveira, José Teixeira da Silva, Luís Ferraz, Teresa Coelho, Filipa Carvalho, Alberto Barros
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M. Detailed demographic, stimulation, embryological, clinical and newborn outcomes were evaluated...
October 12, 2017: Reproductive Biomedicine Online
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