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https://www.readbyqxmd.com/read/28346418/first-experience-of-hematopoietic-stem-cell-transplantation-treatment-of-shwachman-diamond-syndrome-using-unaffected-hla-matched-sibling-donor-produced-through-preimplantation-hla-typing
#1
A A Isaev, R V Deev, A Kuliev, I L Plaxa, N V Stancheva, A S Borovkova, I V Potapov, E A Pomerantseva, A G Chogovadze, K Y Boyarsky, A E Semenenko, A V Mikhailov, K G Shevchenko, A V Prikhodko, S Rechitsky, O V Paina, I M Barchatov, L S Zubarovskaya, O Verlinsky, I Y Bozo, B V Afanasyev
The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available...
March 27, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28343983/comprehensive-cell-surface-protein-profiling-identifies-specific-markers-of-human-naive-and-primed-pluripotent-states
#2
Amanda J Collier, Sarita P Panula, John Paul Schell, Peter Chovanec, Alvaro Plaza Reyes, Sophie Petropoulos, Anne E Corcoran, Rachael Walker, Iyadh Douagi, Fredrik Lanner, Peter J Rugg-Gunn
Human pluripotent stem cells (PSCs) exist in naive and primed states and provide important models to investigate the earliest stages of human development. Naive cells can be obtained through primed-to-naive resetting, but there are no reliable methods to prospectively isolate unmodified naive cells during this process. Here we report comprehensive profiling of cell surface proteins by flow cytometry in naive and primed human PSCs. Several naive-specific, but not primed-specific, proteins were also expressed by pluripotent cells in the human preimplantation embryo...
March 21, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#3
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
March 24, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28339853/prosurvival-effect-of-cumulus-prostaglandin-g-h-synthase-2-prostaglandin2-signaling-on-bovine-blastocyst-impact-on-in-vivo-posthatching-development%C3%A2
#4
Fabienne Nuttinck, Alice Jouneau, Gilles Charpigny, Isabelle Hue, Christophe Richard, Pierre Adenot, Sylvie Ruffini, Ludivine Laffont, Martine Chebrout, Véronique Duranthon, Brigitte Marquant-Le Guienne
Apoptotic activity is a common physiological process which culminates at the blastocyst stage in the preimplantation embryo of many mammals. The degree of embryonic cell death can be influenced by the oocyte microenvironment. However, the prognostic significance of the incidence of apoptosis remains undefined. Prostaglandin E2 (PGE2) derived from prostaglandin G/H synthase-2 (PTGS2) activity is a well-known prosurvival factor that is mainly studied in oncology. PGE2 is the predominant PTGS2-derived prostaglandin present in the oocyte microenvironment during the periconceptional period...
March 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339658/acute-cell-volume-regulation-by-janus-kinase-2-mediated-sodium-hydrogen-exchange-activation-develops-at-the-late-one-cell-stage-in-mouse-preimplantation-embryos%C3%A2
#5
Baozeng Xu, Chenxi Zhou, Megan Meredith, Jay M Baltz
Early preimplantation embryos are extremely sensitive to dysregulation of cell volume, which can lead to developmental arrest. It was previously shown that mouse embryos at the two-cell stage respond to a cell volume decrease by quickly activating Na+/H+ exchange via a signaling mechanism that involves the tyrosine kinase Janus kinase 2 (JAK2). However, it was not known whether this mechanism is active at the one-cell stage, when embryos are most sensitive to perturbed cell volume. Na+/H+ exchanger activity elicited by an induced cell volume decrease was significantly lower at the mid one-cell stage than at the late one-cell stage or during the two-cell stage...
February 17, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28336162/meiotic-segregation-analyses-of-reciprocal-translocations-in-spermatozoa-and-embryos-no-support-for-predictive-value-regarding-pgd-outcome
#6
Katarina Haapaniemi Kouru, Helena Malmgren, Irene White, Ana Rodriguez Sanchez, Elisabeth Syk Lundberg
Translocation heterozygotes have an increased risk of producing gametes with unbalanced chromosome content. This often leads to reproductive problems such as infertility, repeated miscarriages or birth of an affected child. To increase the chances of having a healthy live-born child, translocation heterozygotes often opt for preimplantation genetic diagnosis (PGD). The aim of this study was to investigate whether there is a correlation between chromosome segregation in spermatozoa from translocation heterozygotes and the number of balanced embryos produced during PGD that may be used to predict the PGD outcome...
March 14, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28333934/visualizing-the-structure-of-rna-seq-expression-data-using-grade-of-membership-models
#7
Kushal K Dey, Chiaowen Joyce Hsiao, Matthew Stephens
Grade of membership models, also known as "admixture models", "topic models" or "Latent Dirichlet Allocation", are a generalization of cluster models that allow each sample to have membership in multiple clusters. These models are widely used in population genetics to model admixed individuals who have ancestry from multiple "populations", and in natural language processing to model documents having words from multiple "topics". Here we illustrate the potential for these models to cluster samples of RNA-seq gene expression data, measured on either bulk samples or single cells...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28321529/the-cumulative-dose-of-gonadotropins-used-for-controlled-ovarian-stimulation-does-not-influence-the-odds-of-embryonic-aneuploidy-in-patients-with-normal-ovarian-response
#8
Lucky Sekhon, Kathryn Shaia, Anthony Santistevan, Karen Hunter Cohn, Joseph A Lee, Piraye Yurttas Beim, Alan B Copperman
OBJECTIVE: Controlled ovarian hyperstimulation (COH) promotes multifollicular growth, increasing the chance of obtaining euploid embryos that will successfully implant. Whether aneuploidy is increased from COH with exogenous gonadotropins interfering with natural selection of dominant follicles is a concern. This study evaluates the association between gonadotropin exposure and aneuploidy. METHODS: This is a retrospective cohort study of 828 patients that underwent 1122 IVF cycles involving controlled ovarian stimulation and trophectoderm biopsy for preimplantation genetic screening (PGS), from 2010 to 2015...
March 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28317850/maternally-expressed-nlrp2-links-the-subcortical-maternal-complex-scmc-to-fertility-embryogenesis-and-epigenetic-reprogramming
#9
Sangeetha Mahadevan, Varsha Sathappan, Budi Utama, Isabel Lorenzo, Khalied Kaskar, Ignatia B Van den Veyver
Mammalian parental genomes contribute differently to early embryonic development. Before activation of the zygotic genome, the maternal genome provides all transcripts and proteins required for the transition from a highly specialized oocyte to a pluripotent embryo. Depletion of these maternally-encoded transcripts frequently results in failure of preimplantation embryonic development, but their functions in this process are incompletely understood. We found that female mice lacking NLRP2 are subfertile because of early embryonic loss and the production of fewer offspring that have a wide array of developmental phenotypes and abnormal DNA methylation at imprinted loci...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28299549/elective-single-blastocyst-transfer-in-advanced-maternal-age
#10
Samer Tannus, Weon-Young Son, Michael Haim Dahan
PURPOSE: The purpose of this study was to investigate reproductive outcomes following elective single blastocyst transfer (eSBT) compared with those of double blastocyst transfer (DBT) in advanced maternal age. METHODS: This was a retrospective cohort study performed at an academic fertility center. All women aged 40 and over for whom in vitro fertilization (IVF) cycles were performed and in whom embryo culture was extended to the blastocyst stage were reviewed for possible inclusion...
March 15, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28292619/obesity-and-female-infertility-potential-mediators-of-obesity-s-impact
#11
REVIEW
Darcy E Broughton, Kelle H Moley
The worldwide upward trend in obesity has been dramatic, now affecting more than 20% of American women of reproductive age. Obesity is associated with many adverse maternal and fetal effects prenatally, but it also exerts a negative influence on female fertility. Obese women are more likely to have ovulatory dysfunction due to dysregulation of the hypothalamic-pituitary-ovarian axis. Women with polycystic ovarian syndrome who are also obese demonstrate a more severe metabolic and reproductive phenotype. Obese women have reduced fecundity even when eumenorrheic and demonstrate poorer outcomes with the use of in vitro fertilization...
March 11, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28268069/in-vitro-culture-of-individual-mouse-preimplantation-embryos-the-role-of-embryo-density-microwells-oxygen-timing-and-conditioned-media
#12
Rebecca L Kelley, David K Gardner
Single embryo culture is suboptimal compared with group culture, but necessary for embryo monitoring, and culture systems should be improved for single embryos. Pronucleate mouse embryos were used to assess the effect of culture conditions on single embryo development. Single culture either before or after compaction reduced cell numbers (112.2 ± 3.1; 110.2 ± 3.5) compared with group culture throughout (127.0 ± 3.4; P < 0.05). Reduction of media volume from 20 µl to 2 µl increased blastocyst cell numbers in single embryos cultured in 5% oxygen (84...
February 15, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28266934/preimplantation-embryonic-mosaicism-origin-consequences-and-the-reliability-of-comprehensive-chromosome-screening
#13
Diego Marin, Richard T Scott, Nathan R Treff
PURPOSE OF REVIEW: Embryonic mosaicism represents an ongoing challenge for contemporary comprehensive chromosome screening platforms due to the unknown reproductive potential of mosaic embryos and technical difficulties of its detection from a single embryo biopsy. RECENT FINDINGS: Mosaicism in preimplantation embryos is a product of mitotic errors arising primarily from anaphase lag and chromosome nondisjunction. To date, there is high variability among estimations of prevalence of mosaicism in blastocysts, the most recent ranging from 3...
March 6, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28265801/performing-and-declining-pgd-accounts-of-jewish-israeli-women-who-carry-a-brca1-2-mutation-or-partners-of-male-mutation-carriers
#14
Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman, Baruch Feldman
To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD...
March 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28264735/the-serine-106-residue-within-the-n-terminal-transactivation-domain-is-crucial-for-oct4-function-in-mice
#15
Atsushi Mitani, Atsushi Fukuda, Toshiyuki Miyashita, Akihiro Umezawa, Hidenori Akutsu
Pou5f1/Oct4 is a key transcription factor for the induction of pluripotency and totipotency in preimplantation mouse embryos. In mice, loss or gain of function experiments have demonstrated an important role for Oct4 in preimplantation and developmental ability. In this study, using mouse preimplantation embryos as a model for the evaluation of Oct4 function, we constructed Oct4 overexpression embryos with various mutations at the N-terminal transactivation domain. Developmental competency and molecular biological phenotypes depended on the type of mutation...
March 7, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/28258706/preimplantation-genetic-haplotyping-for-six-chinese-pedigrees-with-thalassemia-using-a-single-nucleotide-polymorphism-microarray
#16
Xu Liu, Yanwen Xu, Jishan Sun, Zheng Zhang, Jing Wang, Chenhui Ding, S Lilly Zheng, Jianfeng Xu, Canquan Zhou
OBJECTIVE: To demonstrate the accuracy and feasibility of using single nucleotide polymorphism (SNP) array-based preimplantation genetic haplotyping (PGH) in Chinese population, as the currently short tandem repeat (STR) method is labor-intensive and time-consuming. METHOD: Six pedigrees with thalassemia who underwent preimplantation genetic diagnosis (PGD) in the First Affiliated Hospital of Sun Yat-sen University in China were included in this study. In vitro fertilization (IVF) cycles and embryo biopsies were performed in clinics...
March 4, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28257862/colony-stimulating-factor-2-enhances-the-developmental-competence-of-yak-poephagus-grunniens-preimplantation-embryos-by-modulating-the-expression-of-heat-shock-protein-70%C3%A2-kda-1a
#17
Zexing Wen, Yangyang Pan, Yan Cui, Xiumei Peng, Ping Chen, Jiangfeng Fan, Guyue Li, Tian Zhao, Jian Zhang, Shujian Qin, Sijiu Yu
Colony-stimulating factor 2 (CSF2) is known to promote the development and survival of rodents and ruminants preimplantation embryos; however, the effect of CSF2 on yak embryos has not been reported. The objective of this study was to investigate the effects of CSF2 on the developmental competence of yak embryos cultured in vitro in modified synthetic oviduct fluid (mSOF) medium and on the expression pattern of heat shock protein 70 kDa 1A (HSPA1A). In each experiment, cumulus-oocyte complexes (COCs) were matured in vitro and fertilized with frozen-thawed semen...
April 15, 2017: Theriogenology
https://www.readbyqxmd.com/read/28241084/characterization-of-bovine-embryos-cultured-under-conditions-appropriate-for-sustaining-human-na%C3%A3-ve-pluripotency
#18
Bas Brinkhof, Helena T A van Tol, Marian J A Groot Koerkamp, Richard W Wubbolts, Henk P Haagsman, Bernard A J Roelen
In mammalian preimplantation development, pluripotent cells are set aside from cells that contribute to extra-embryonic tissues. Although the pluripotent cell population of mouse and human embryos can be cultured as embryonic stem cells, little is known about the pathways involved in formation of a bovine pluripotent cell population, nor how to maintain these cells in vitro. The objective of this study was to determine the transcriptomic profile related to bovine pluripotency. Therefore, in vitro derived embryos were cultured in various culture media that recently have been reported capable of maintaining the naïve pluripotent state of human embryonic cells...
2017: PloS One
https://www.readbyqxmd.com/read/28236968/regulation-of-embryonic-and-postnatal-development-by-the-csf-1-receptor
#19
Violeta Chitu, E Richard Stanley
Macrophages are found in all tissues and regulate tissue morphogenesis during development through trophic and scavenger functions. The colony stimulating factor-1 (CSF-1) receptor (CSF-1R) is the major regulator of tissue macrophage development and maintenance. In combination with receptor activator of nuclear factor κB (RANK), the CSF-1R also regulates the differentiation of the bone-resorbing osteoclast and controls bone remodeling during embryonic and early postnatal development. CSF-1R-regulated macrophages play trophic and remodeling roles in development...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28231693/native-plants-p-amurense-and-h-japonicus-extracts-act-as-antioxidants-to-support-developmental-competence-of-bovine-blastocysts
#20
Geon-Yeop Do, Jin-Woo Kim, Hyo-Jin Park, Seung-Bin Yoon, Jae-Young Park, Seul-Gi Yang, Bae Dong Jung, Yong-Soo Kwon, Man-Jong Kang, Bong-Seok Song, Sun-Uk Kim, Kyu-Tae Chang, Deog-Bon Koo
Objective: Phellodendron amurense (P. amurense) and Humulus japonicus (H. japonicus) are closely involved in anti-oxidative response and increasing antioxidant enzymes activities. However, the effects of their extracts on development of preimplantation bovine embryos have not yet been investigated. Therefore, we investigated the effects of P. amurense and H. japonicus extract on developmental competence and quality of preimplantation bovine embryos. Methods: After in vitro fertilization, bovine embryos were cultured for 7 days in CR1aa medium supplemented with P...
February 23, 2017: Asian-Australasian Journal of Animal Sciences
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