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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/28345288/single-tube-tetradecaplex-panel-of-highly-polymorphic-microsatellite-markers-1-mb-from-f8-for-simplified-preimplantation-genetic-diagnosis-of-hemophilia-a
#2
Mingjue Zhao, Min Chen, Arnold S C Tan, Felicia S H Cheah, Joyce Mathew, Peng-Cheang Wong, Samuel S Chong
BACKGROUND: It is currently not possible to perform single cell preimplantation genetic diagnosis (PGD) to directly detect the common inversion mutations of the factor VIII (F8) gene responsible for severe hemophilia A (HEMA). As such, PGD for such inversion carriers relies on indirect analysis of linked polymorphic markers. OBJECTIVES: To simplify linkage-based PGD of HEMA, we aimed to develop a panel of highly polymorphic microsatellite markers located near the F8 gene that could be simultaneously genotyped in a multiplex-PCR reaction...
March 27, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28343983/comprehensive-cell-surface-protein-profiling-identifies-specific-markers-of-human-naive-and-primed-pluripotent-states
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/28329112/comparison-of-paracorporeal-and-continuous-flow-ventricular-assist-devices-in-children-preliminary-results%C3%A2
#9
Mohamed S Nassar, Asif Hasan, Teresa Chila, Stephan Schueler, Carola Pergolizzi, Zdenka Reinhardt, Stephen Lord, Fabrizio De Rita, Lee Ferguson, Jon Smith, Simon Haynes, John O'Sullivan, Bari Murtuza
OBJECTIVES: With the scarcity of organs, a durable, reliable ventricular assist device (VAD) is required. The Berlin Heart EXCOR ® (BH) remains the most established VAD in the paediatric population. Implantable continuous flow (CF) VADs have been introduced to the paediatric field with encouraging early results. In this study, we compared the results of a newly introduced CF VAD (HeartWare VAD [HVAD] ® ) to results in a matched group of BH recipients. METHODS: The study included patients aged <16 years who received mechanical left VAD (LVAD) support between December 2005 and January 2016...
February 16, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28325472/dosimetric-comparison-between-treatment-plans-of-patients-treated-with-low-dose-rate-vs-high-dose-rate-interstitial-prostate-brachytherapy-as-monotherapy-initial-findings-of-a-randomized-clinical-trial
#10
T Major, C Polgár, K Jorgo, G Stelczer, P Ágoston
PURPOSE: The aim of this study was to compare the dosimetry of intraoperative dose plans of prostate cancer patients treated with low-dose-rate (LDR) and high-dose-rate (HDR) interstitial brachytherapy (BT). METHODS AND MATERIALS: A randomized clinical trial was initiated at our institution to compare the results and side effects of LDR and HDR BT as monotherapy in the treatment of early, organ-confined prostate cancer patients. Eighty-seven patients were randomly assigned to receive HDR afterloading BT with one fraction of 19 Gy or permanent LDR (125)I seed BT with 145 Gy...
March 15, 2017: Brachytherapy
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
#11
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
#12
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/28314849/prognostic-implications-of-nonsustained-ventricular-tachycardia-in-high-risk-patients-with-hypertrophic-cardiomyopathy
#13
Weijia Wang, Zhesi Lian, Ethan J Rowin, Barry J Maron, Martin S Maron, Mark S Link
BACKGROUND: The prognostic significance of nonsustained ventricular tachycardia (NSVT) in patients with hypertrophic cardiomyopathy is incompletely resolved. METHODS AND RESULTS: The study group comprised 160 patients with implantable cardioverter defibrillators (ICDs), of whom 94 patients had 24- to 48-hour ambulatory monitoring preimplant. ICDs were interrogated and ambulatory ECGs monitored for NSVT episodes, with associations between NSVT- and ICD-treated ventricular arrhythmias examined...
March 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28299549/elective-single-blastocyst-transfer-in-advanced-maternal-age
#14
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
#15
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
#16
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/28267462/right-heart-pulmonary-circulation-unit-and-cardiac-resynchronization-therapy
#17
REVIEW
Fabrizio Ricci, Donato Mele, Francesco Bianco, Valentina Bucciarelli, Raffaele De Caterina, Sabina Gallina
Clinical response to cardiac resynchronization therapy (CRT) has been known for years to be highly variable, with a spectrum of responses from no change or even deterioration of cardiac function to spectacular improvements. In the plethora of clinical, echocardiographic, biohumoral, and electrophysiological predictors of response to CRT and postimplant issues besides patient selection, the role of right ventricular (RV) function has been largely overlooked. In reviewing current evidence, we noticed conflicting results between observational studies and randomized trials not only concerning the impact of baseline RV function on CRT efficacy but also on the effects of CRT on RV size and function...
March 2017: American Heart Journal
https://www.readbyqxmd.com/read/28266934/preimplantation-embryonic-mosaicism-origin-consequences-and-the-reliability-of-comprehensive-chromosome-screening
#18
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
#19
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
#20
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
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