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https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#1
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28624055/sevoflurane-preconditioning-protects-from-posttransplant-injury-in-mouse-lung-transplantation
#2
Yoshito Yamada, Isabelle Laube, Jae-Hwi Jang, John M Bonvini, Ilhan Inci, Walter Weder, Beatrice Beck Schimmer, Wolfgang Jungraithmayr
BACKGROUND: Although sevoflurane (Sevo) had been shown to ameliorate posttransplant injury in various organs, data available are inconsistent, particularly in the context of lung transplantation (Tx). We here investigated if preconditioning by Sevo can protect from posttransplant injury regarding both, primary graft dysfunction (PGD) and acute rejection (AR) after experimental lung Tx, thereby focusing on two important clinical outcome parameters. MATERIALS AND METHODS: Three experimental approaches were used: (1) BALB/c mice were preconditioned for 2 h with Sevo or a fentanyl cocktail (Control; n = 10); (2) syngeneic (Syn) mouse lung Tx (C57BL/6) with a Sevo-preconditioned graft followed by 18 h storage to mimic PGD (Syn-Tx, n = 12) versus controls (fentanyl cocktail); and (3) allogeneic (Allo) Tx (BALB/c, donor; C57BL/6, recipient) to mimic AR (Allo-Tx, n = 12) versus controls (fentanyl cocktail)...
June 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28620154/influence-of-donor-lung-surfactant-a-and-b-protein-expression-on-the-development-of-primary-graft-dysfunction-after-lung-transplantation-a-pilot-study
#3
Asmae Belhaj, Carine Boven, Laurence Dewachter, Maria Ruiz Patino, Youri Sokolow, Benoît Rondelet
BACKGROUND Primary graft dysfunction (PGD) is responsible of high early mortality in lung transplanted patients. We measured the rate of surfactant proteins in the organ donor, and we observed the occurrence of lung PGD in the recipient. The co-relation between these two parameters was evaluated. MATERIAL AND METHODS In this pilot study, we prospectively collected blood samples and lung biopsies in thirteen donors at the time of recovery of organs before preservation. Gene expression of SP-A, SP-B, SP-D, and CC16 was evaluated by real-time quantitative PCR...
June 16, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/28618107/blood-pressure-and-psychological-distress-among-north-africans-in-france-the-role-of-perceived-personal-group-discrimination-and-gender
#4
Florence Loose, Marie Tiboulet, Christelle Maisonneuve, Anne Taillandier-Schmitt, Michael Dambrun
OBJECTIVES: The purpose of this study was to examine the associations between perceived ethnic discrimination and (physical and mental) health indicators among North African women and men living in France. METHODS: This study included 82 North Africans, aged 18-64 years. Perceived discrimination was measured at both group level (PGD) and personal level (PPD). The physical health indicator was blood pressure. The mental health indicator was self-reported psychological distress...
June 15, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28612309/pre-implantation-genetic-diagnosis-should-we-use-icsi-for-all
#5
Baruch Feldman, Adva Aizer, Masha Brengauz, Keren Dotan, Jacob Levron, Eyal Schiff, Raoul Orvieto
OBJECTIVE: Intracytoplasmic sperm injection (ICSI) is commonly used during pre-implantation genetic diagnosis (PGD) in vitro fertilization (IVF), aiming to eliminate the risk of contamination from extraneous sperm DNA. Recently, ICSI "overuse" in non-male infertility has been doubted, since it does not offer an advantage over IVF. Prompted by the aforementioned observations, we sought to assess the accuracy of IVF vs ICSI in PGD cases, as might be reflected by a difference in the prevalence of discarded embryos as a consequent of parental contamination...
June 13, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28608392/volatile-organic-compounds-analysis-by-pulsed-glow-discharge-time-of-flight-mass-spectrometry-as-a-structural-elucidation-tool
#6
M Bouza, J Fandino, N Bordel, R Pereiro, A Sanz-Medel
Pulsed glow discharge (PGD) coupled to time of flight mass spectrometry (TOFMS) has been investigated for volatile organic compounds (VOCs) identification and determination. Optimization of PGD operational conditions (chamber design, applied power, pressure and duty cycle) was performed using acetone and benzene as model compounds. During the different optimizations, molecular, fragment and elemental information were obtained when characteristic GD pulse regions were measured. An exploratory study for several VOCs (lineal hydrocarbons, oxygen-containing compounds and aromatic compounds) revealed the capability of the PGD to provide crucial information to elucidate structures (fragments), molecular ions or even proton affinity nature of the molecules; this last information is a consequence of the enriched proton environment generated along the afterglow region for the ionization chamber used...
June 12, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28608054/bioethics-and-biopolitics-presents-and-futures-of-reproduction
#7
Silvia Camporesi
This Bioethics and Biopolitics: Presents and Futures of Reproduction symposium draws together a series of articles that were each submitted independently by their authors to the JBI and which explore the biopower axis in the externalization of reproduction in four contexts: artificial gestation (ectogenesis), PGD for sex selection, women's (reproductive) rights, and testicular cryopreservation (TCCP). While one contribution explores a "future" of reproduction, the other three explore a "present," or better, explore different "presents...
June 12, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/28604975/-advance-in-the-methods-of-preimplantation-genetic-diagnosis-for-single-gene-diseases
#8
Yixin Ren, Jie Qiao, Liying Yan
More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28602104/reproductive-outcome-following-pre-implantation-genetic-diagnosis-pgd-in-the-uk
#9
Abigail Sharpe, Peter Avery, Meenakshi Choudhary
In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974)...
June 12, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28588822/de-novo-balanced-reciprocal-translocation-t-2-3-q31-q27-in-a-fetus-conceived-using-pgd-in-a-t-2-14-q35-q32-1-balanced-reciprocal-translocation-carrier-mother
#10
Ji Won Kim, Sung Han Shim, Woo Sik Lee
We reported a case of a t(2;14) balanced reciprocal translocation carrier mother that conceived by IVF accompanied by PGD/PGS using array-CGH; however, de novo t(2;3) was detected in the prenatal diagnosis. A healthy baby was delivered, and careful observation is needed for PGD/PGS cases.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28586458/disease-stabilization-of-dyt1-positive-primary-generalized-dystonia-with-deep-brain-stimulation-of-the-globus-pallidus-interna-a-15-yr-follow-up
#11
Derrick A Dupre, Raj Nangunoori, Sravanthi Koduri, Cindy Angle, Diane Cantella, Donald Whiting
BACKGROUND AND IMPORTANCE: Primary generalized dystonia (PGD) is a genetic form of dystonia that frequently displays pharmacological resistance and progresses quickly after onset. Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. Long-term follow-up of the safety and efficacy falls short of the longevity seen in other diseases treated with DBS. CASE PRESENTATION: A male patient presented for neurosurgical evaluation with scapular winging, hand contractures, and violent truncal spasms, which forced him to be bedridden...
June 6, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28583890/cd200-selectively-upregulates-prostaglandin-e2-and-d2-synthesis-in-lps-treated-bone-marrow-derived-macrophages
#12
Katharina Kern, Sandra Pierre, Yannick Schreiber, Carlo Angioni, Dominique Thomas, Nerea Ferreirós, Gerd Geisslinger, Klaus Scholich
The CD200/CD200R signalling pathway downregulates the synthesis of proinflammatory mediators and induces the synthesis of antiinflammatory mediators in macrophages and microglia. However, very little is known about the effect of this immunosuppressive pathway on the synthesis of lipid mediators. Therefore, we determined the synthesis of 35 lipids spanning 5 different lipid families in bone marrow-derived macrophages, which were treated with interleukin (IL) 4, IL10, lipopolysaccharide (LPS), or interferon γ (IFNγ) in absence and presence of CD200...
June 2, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/28583372/dose-dependent-association-between-amiodarone-and-severe-primary-graft-dysfunction-in-orthotopic-heart-transplantation
#13
Matthew Wright, Koji Takeda, Christine Mauro, Douglas Jennings, Paul Kurlansky, Jiho Han, Lauren Truby, Samantha Stein, Veli Topkara, Arthur R Garan, Melana Yuzefpolskaya, Paolo Colombo, Yoshifumi Naka, Maryjane Farr, Hiroo Takayama
BACKGROUND: There is growing concern regarding the association between pre-transplant amiodarone exposure and post-transplant adverse outcomes. We hypothesized that amiodarone use would be associated with the development of severe primary graft dysfunction (PGD) in a dose-dependent manner. METHODS: This was a retrospective review of 269 adult orthotopic heart transplantation (OHT) recipients at our institution between 2010 and 2014. At the time of OHT, 100 were receiving amiodarone therapy (Group 1) and 169 were not (Group 2)...
May 20, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28580485/modeling-soft-permeable-matter-with-the-proper-generalized-decomposition-pgd-approach-and-verification-by-means-of-nanoindentation
#14
Chady Ghnatios, Christian H Mathis, Rok Simic, Nicholas D Spencer, Francisco Chinesta
Understanding sliding and load-bearing mechanisms of biphasic soft matter is crucial for designing synthetic replacements of cartilage, contact-lens materials or coatings for medical instruments. Interstitial fluid pressurization is believed to be the intrinsic load-carrying phenomenon governing the frictional properties. In this study, we have characterized permeability and identified the fluid contribution to the support of load during Atomic Force Microscopy (AFM) nanoindentation of soft polymer brushes in aqueous environments, by means of the Proper Generalized Decomposition (PGD) approach...
June 5, 2017: Soft Matter
https://www.readbyqxmd.com/read/28576301/obstetric-and-neonatal-outcomes-of-pregnancies-conceived-after-preimplantation-genetic-diagnosis-cohort-study-and-meta-analysis
#15
Joseph Hasson, Dana Limoni, Mira Malcov, Tsvia Frumkin, Hadar Amir, Tal Shavit, BjØrn Bay, Ariel Many, Benjamin Almog
Preimplantation genetic diagnosis (PGD) may pose risks to pregnancy outcome owing to the invasiveness of the biopsy procedure. This study compares outcome of singleton and twin clinical pregnancies conceived after fresh embryo transfers of PGD (n = 89) and matched intracytoplasmic sperm injection (ICSI) pregnancies (n = 166). The study was carried out in a single university affiliated centre. Because of the paucity of available data, a literature-based meta-analysis of studies comparing neonatal outcome of PGD and ICSI pregnancies was also conducted...
May 18, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28571000/quantitative-assessment-of-the-effect-of-pre-gestational-diabetes-and-risk-of-adverse-maternal-perinatal-and-neonatal-outcomes
#16
Lei Yu, Xiao-Ling Zeng, Ming-Liang Cheng, Guo-Zhen Yang, Bi Wang, Zi-Wen Xiao, Xin Luo, Bao-Fang Zhang, De-Wei Xiao, Shuai Zhang, Hua-Juan Liu, Ya-Xin Hu, Hou-Kang Lei, Qin-Fen Li, Zheng-Rong Wang
Pregnancies complicated by pre-gestational diabetes (PGD) are associated with a higher rate of adverse outcomes, including an increased rage of preterm delivery, pregnancy-induced hypertension, pre-eclampsia, caesarean section, perinatal mortality, stillbirth, shoulder dystocia, macrosomia, small for gestational age, large for gestational age, low birth weight, neonatal hypoglycemia, neonatal death, low Apgar score, NICU admission, jaundice and respiratory distress. In the past two decades, numerous reports have been published regarding associations between PGD and risk of adverse outcomes...
May 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28555358/complex-chromosomal-rearrangement-a-lesson-learned-from-pgs
#17
Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef, Mira Malcov
PURPOSE: The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring. METHODS: A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm...
May 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28552627/perioperative-statin-use-is-associated-with-decreased-incidence-of-primary-graft-dysfunction-after-lung-transplantation
#18
Jacob Raphael, Stephen R Collins, Xin-Qun Wang, David C Scalzo, Priyanka Singla, Christine L Lau, Benjamin D Kozower, Marcel E Durieux, Randal S Blank
BACKGROUND: Primary graft dysfunction (PGD) is a major cause of early morbidity and mortality after lung transplantation. Statins reduce the risk of chronic rejection after lung transplantation, but their effects on PGD are unknown. We hypothesized that perioperative statin therapy decreases the risk for PGD after lung transplantation. METHODS: We retrospectively reviewed records of all patients undergoing lung transplantation between January 1999 and December 2014 at the University of Virginia Health System...
May 6, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28548214/the-performance-of-malbac-and-mda-methods-in-the-identification-of-concurrent-mutations-and-aneuploidy-screening-to-diagnose-beta-thalassaemia-disorders-at-the-single-and-multiple-cell-levels
#19
WeiQiang Liu, HuiMin Zhang, Dan Hu, SiJia Lu, XiaoFang Sun
AIM: To select an optimal whole-genome amplification (WGA) method to improve the efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta-thalassaemia disorders. METHODS: Fifty-seven fibroblast samples with defined beta-thalassaemia variations and forty-eight single-blastomere samples were amplified from single-, two-, and five-cell samples by multiple annealing and looping-based amplification cycles (MALBAC) and the multiple displacement amplification (MDA) method...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28539260/phylogenetic-relationships-of-the-tribe-toxotrypanini-diptera-tephritidae-based-on-molecular-characters
#20
Ximo Mengual, Peter Kerr, Allen L Norrbom, Norman B Barr, Matthew L Lewis, Anna M Stapelfeldt, Sonja J Scheffer, Patrick Woods, Md-Sajedul Islam, Cheslavo A Korytkowski, Keiko Uramoto, Erick J Rodriguez, Bruce D Sutton, Norma Nolazco, Gary J Steck, Stephen Gaimari
Current hypotheses of relationship among the species of the fruit fly genera Anastrepha and Toxotrypana are tested using sequence data from six DNA regions: the mitochondrial regions 16S, CAD, and COI, and the nuclear regions EF1a, PER, and PGD. DNA sequences were obtained from 146 species of Anastrepha, representing 19 of the 21 species groups as well as five of the six clades of the robusta group, and four species of Toxotrypana in addition to species of Hexachaeta, Pseudophorellia, Alujamyia, and 13 other tephritid genera used as outgroups...
May 21, 2017: Molecular Phylogenetics and Evolution
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