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https://www.readbyqxmd.com/read/28222427/impact-of-fmr1-pre-mutation-status-on-blastocyst-development-in-patients-undergoing-pre-implantation-genetic-diagnosis
#1
Anne P Hutchinson, Nigel Pereira, Debra P Lilienthal, Siobhán Coveney, Jovana P Lekovich, Rony T Elias, Zev Rosenwaks
BACKGROUND/AIMS: The study aimed to investigate the impact of fragile X mental retardation 1 (FMR1) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). METHODS: Case-control study of patients <40 years undergoing PGD at blastocyst stage for FMR1 pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups...
February 22, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28220806/on-the-long-term-stability-of-clines-in-some-metabolic-genes-in-drosophila-melanogaster
#2
Rodrigo Cogni, Kate Kuczynski, Spencer Koury, Erik Lavington, Emily L Behrman, Katherine R O'Brien, Paul S Schmidt, Walter F Eanes
Very little information exists for long-term changes in genetic variation in natural populations. Here we take the unique opportunity to compare a set of data for SNPs in 15 metabolic genes from eastern US collections of Drosophila melanogaster that span a large latitudinal range and represent two collections separated by 12 to 13 years. We also expand this to a 22-year interval for the Adh gene and approximately 30 years for the G6pd and Pgd genes. During these intervals, five genes showed a statistically significant change in average SNP allele frequency corrected for latitude...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28207629/short-and-long-term-outcome-after-lung-transplantation-from-circulatory-dead-donors-a-single-center-experience
#3
David Ruttens, An Martens, Sofie Ordies, Stijn E Verleden, Arne P Neyrinck, Robin Vos, Marc Boada Collado, Bart M Vanaudenaerde, Geert M Verleden, Dirk Van Raemdonck
BACKGROUND: Donation after cardiac death (DCD) to overcome the donor organ shortage is well accepted in the clinical setting, although long-term outcome after DCD lung transplantation (LTx) remains largely unknown. METHODS: In this retrospective study, DCD LTx recipients (n=59) were compared with a cohort of donation after brain-death (DBD) LTx recipients (n=331) transplanted between February 2007 and September 2013; follow-up was until January 1st 2016. Short-term (duration of mechanical ventilation, ICU stay, hospital stay and highest PGD score within 72 hours) and long-term (CLAD-free and overall survival) follow-up were compared over a median follow-up of 50...
February 15, 2017: Transplantation
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#4
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28196879/deletion-of-cytosolic-gating-ring-decreases-gate-and-voltage-sensor-coupling-in-bk-channels
#5
Guohui Zhang, Yanyan Geng, Yakang Jin, Jingyi Shi, Kelli McFarland, Karl L Magleby, Lawrence Salkoff, Jianmin Cui
Large conductance Ca(2+)-activated K(+) channels (BK channels) gate open in response to both membrane voltage and intracellular Ca(2+) The channel is formed by a central pore-gate domain (PGD), which spans the membrane, plus transmembrane voltage sensors and a cytoplasmic gating ring that acts as a Ca(2+) sensor. How these voltage and Ca(2+) sensors influence the common activation gate, and interact with each other, is unclear. A previous study showed that a BK channel core lacking the entire cytoplasmic gating ring (Core-MT) was devoid of Ca(2+) activation but retained voltage sensitivity (Budelli et al...
February 14, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28191608/experiences-of-pre-implantation-genetic-diagnosis-pgd-in-sweden-a-three-year-follow-up-of-men-and-women
#6
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
Men and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women's psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method...
February 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28184250/meiotic-outcome-in-two-carriers-of-y-autosome-reciprocal-translocations-selective-elimination-of-certain-segregants
#7
Harita Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal, Joy Delhanty
BACKGROUND: Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling determination of the segregation types that were compatible with fertilization and preimplantation embryo development. Both PGD and follow up analysis were carried out via fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic segregation types to be determined in a total of 27 embryos...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28168587/improving-the-quality-of-reconstructed-x-ray-ct-images-of-polymer-gel-dosimeters-zero-scan-coupled-with-adaptive-mean-filtering
#8
M B Kakakhel, A Jirasek, H Johnston, T Kairn, J V Trapp
This study evaluated the feasibility of combining the 'zero-scan' (ZS) X-ray computed tomography (CT) based polymer gel dosimeter (PGD) readout with adaptive mean (AM) filtering for improving the signal to noise ratio (SNR), and to compare these results with available average scan (AS) X-ray CT readout techniques. NIPAM PGD were manufactured, irradiated with 6 MV photons, CT imaged and processed in Matlab. AM filter for two iterations, with 3 × 3 and 5 × 5 pixels (kernel size), was used in two scenarios (a) the CT images were subjected to AM filtering (pre-processing) and these were further employed to generate AS and ZS gel images, and (b) the AS and ZS images were first reconstructed from the CT images and then AM filtering was carried out (post-processing)...
February 6, 2017: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/28167398/prevalence-of-prolonged-grief-disorder-in-adult-bereavement-a-systematic-review-and-meta-analysis
#9
REVIEW
Marie Lundorff, Helle Holmgren, Robert Zachariae, Ingeborg Farver-Vestergaard, Maja O'Connor
BACKGROUND: Prolonged grief disorder (PGD) is a bereavement-specific syndrome expected to be included in the forthcoming ICD-11. Defining the prevalence of PGD will have important nosological, clinical, and therapeutic implications. The present systematic review and meta-analysis aimed to estimate the prevalence rate of PGD in the adult bereaved population, identify possible moderators, and explore methodological quality of studies in this area. METHODS: A systematic literature search was conducted in PubMed, PsycINFO, Embase, Web of Science, and CINAHL...
January 23, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28153256/characterization-of-thin-film-tandem-solar-cells-by-radiofrequency-pulsed-glow-discharge-time-of-flight-mass-spectrometry
#10
Beatriz Fernandez, Lara Lobo, Nies Reininghaus, Rosario Pereiro, Alfredo Sanz-Medel
Beside low production costs and the use of nontoxic and abundant raw materials, silicon based thin-film solar cells have the advantage to be built up as multi junction devices like tandem or triple junction solar cells. Silicon thin film modules made of tandem cells with hydrogenated amorphous silicon (a-Si:H) top cell and microcrystalline (μc) Si:H bottom cell are available on the market. In this work, the analytical potential of state-of-the art radiofrequency (rf) pulsed glow discharge (PGD) time of flight mass spectrometry (TOFMS) commercial instrumentation is investigated for depth profiling analysis of tandem-junctions solar cells on 2mm thick glass substrate with 1µm thick ZnO:Al...
April 1, 2017: Talanta
https://www.readbyqxmd.com/read/28122886/pgd-for-the-m-14487-t-c-mitochondrial-dna-mutation-resulted-in-the-birth-of-a-healthy-boy
#11
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Debby M E I Hellebrekers, Aimee D C Paulussen, Edith Coonen, Ronald J T van Golde, Joep P M Geraedts, Luca Gianaroli, Maria C Magli, Massimo Zeviani, Hubert J M Smeets, Christine E M de Die-Smulders
We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The female carrier gave birth to a healthy baby boy at age 42. This case adds to the successes of PGD for mtDNA mutations.
January 24, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28117940/peripheral-blood-gene-expression-changes-associated-with-primary-graft-dysfunction-after-lung-transplantation
#12
J M Diamond, E Cantu, M K Porteous, Y Suzuki, K C Meyer, D J Lederer, R K Milewski, S Arcasoy, F D'Ovidio, M Bacchetta, J R Sonett, G Singh, J Costa, J W Tobias, H Rodriguez, V M Van Deerlin, K M Olthoff, A Shaked, B-L Chang, J D Christie
Recipient responses to primary graft dysfunction (PGD) after lung transplantation may have important implications to the fate of the allograft. We therefore evaluated longitudinal differences in peripheral blood gene expression in subjects with PGD. RNA expression was measured throughout the first transplant year in 106 subjects enrolled in the Clinical Trials in Organ Transplantation-03 study using a panel of 100 hypothesis-driven genes. PGD was defined as grade 3 in the first 72 posttransplant hours. Eighteen genes were differentially expressed over the first year based on PGD development, with significant representation from innate and adaptive immunity genes, with most differences identified very early after transplant...
January 24, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28105066/electroacupuncture-for-the-prevention-of-postoperative-gastrointestinal-dysfunction-in-participants-undergoing-vascular-laparotomy-under-general-anesthesia-a-randomized-controlled-trial
#13
Meng-Yue Liu, Cheng-Wei Wang, Zhou-Peng Wu, Ning Li
BACKGROUND: Postoperative gastrointestinal dysfunction (PGD) is a common complication following laparotomy under general anesthesia (GA). Abdominal distension occurs in 8-28% of surgeries within 24 h postoperatively. The present study aimed to analyze the efficacy of electroacupuncture (EA) for the prevention of PGD by applying preoperative EA stimulation of PC6 (Neiguan), ST36 (Zusanli), and ST37 (Shangjuxv) bilaterally twice within 24 h prior to surgery, compared with no acupuncture treatment...
2017: Chinese Medicine
https://www.readbyqxmd.com/read/28087104/improved-outcomes-from-extracorporeal-membrane-oxygenation-versus-ventricular-assist-device-temporary-support-of-primary-graft-dysfunction-in-heart-transplant
#14
Koji Takeda, Boyangzi Li, Arthur R Garan, Veli K Topkara, Jiho Han, Paolo C Colombo, Maryjane A Farr, Yoshifumi Naka, Hiroo Takayama
BACKGROUND: Primary graft dysfunction (PGD) is one of the most common causes of early death after orthotopic heart transplantation. Mechanical circulatory support devices are required for severe forms of PGD. Venoarterial extracorporeal membrane oxygenation (VA-ECMO) and temporary ventricular assist device (VAD) support have both been reported to be useful for severe PGD. METHODS: Between January 2007 and December 2015, 597 patients received a heart transplant at our center...
December 23, 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28079561/-single-checked-patient-group-directions-during-initial-nurse-assessment-within-paediatric-emergency-departments-of-the-uk-and-ireland
#15
Chris K Bird, Anthony G Sinclair, Stuart Hartshorn
OBJECTIVE: Double checking medications at initial assessment within paediatric emergency departments (EDs) has the potential to delay patient flow, and doubt has been cast on the efficacy of double checking in all but high-risk medications. We aimed to benchmark current practice for the use of Patient Group Direction (PGD) medications at initial assessment in EDs within the Paediatric Emergency Research UK and Ireland (PERUKI) network, with a focus on the use of 'single-checker' PGDs...
January 10, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28074663/primary-graft-dysfunction-pathophysiology-to-guide-new-preventive-therapies
#16
Ciara M Shaver, Lorraine B Ware
Primary graft dysfunction (PGD) is a common complication of lung transplantation characterized by acute pulmonary edema associated with bilateral pulmonary infiltrates and hypoxemia in the first 3 post-operative days. Development of PGD is a predictor of poor short- and long-term outcomes after lung transplantation, but there are currently limited tools to prevent its occurrence. Areas covered: Several potentially modifiable donor, recipient, and operative risk factors for PGD have been identified. In addition, basic and translational studies in animals and ex vivo lung perfusion systems have identified several biomarkers and mechanisms of injury in PGD...
February 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#17
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28070710/the-accumulation-of-vitrified-oocytes-is-a-strategy-to-increase-the-number-of-euploid-available-blastocysts-for-transfer-after-preimplantation-genetic-testing
#18
Sandrine Chamayou, Maria Sicali, Carmelita Alecci, Carmen Ragolia, Annalisa Liprino, Daniela Nibali, Giorgia Storaci, Antonietta Cardea, Antonino Guglielmino
PURPOSE: In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together with previously accumulated vitrified oocytes. METHODS: Sixty-nine patients with normal ovarian reserve underwent PGD-A for repeated implantation failure or recurrent pregnancy loss indication...
January 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28070598/advanced-mri-assessment-to-predict-benefit-of-anti-programmed-cell-death-1-protein-immunotherapy-response-in-patients-with-recurrent-glioblastoma
#19
Lei Qin, Xiang Li, Amanda Stroiney, Jinrong Qu, Jeffrey Helgager, David A Reardon, Geoffrey S Young
INTRODUCTION: We describe the imaging findings encountered in GBM patients receiving immune checkpoint blockade and assess the potential of quantitative MRI biomarkers to differentiate patients who derive therapeutic benefit from those who do not. METHODS: A retrospective analysis was performed on longitudinal MRIs obtained on recurrent GBM patients enrolled on clinical trials. Among 10 patients with analyzable data, bidirectional diameters were measured on contrast enhanced T1 (pGd-T1WI) and volumes of interest (VOI) representing measurable abnormality suggestive of tumor were selected on pGdT1WI (pGdT1 VOI), FLAIR-T2WI (FLAIR VOI), and ADC maps...
January 9, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28069174/management-and-counseling-of-the-male-with-advanced-paternal-age
#20
REVIEW
Michael O Jennings, Ryan C Owen, David Keefe, Edward D Kim
Increasing percentages of children are being born to older fathers. This has resulted in concerns about the potential adverse effects of advanced paternal age. To help clinicians counsel couples, a systemic review was performed to attempt to address questions that these couples may ask: Should routine sperm testing be performed in older males? Should preimplantation genetic diagnosis (PGD) be performed? How do providers counsel patients about risk? Should young males freeze sperm if they plan to delay paternity? Using the terms "advanced paternal age", "semen testing", "preimplantation genetic diagnosis/screening", and "cryopreservation", a comprehensive search was performed in PubMed and the Cochrane Library, and numerous international societal guidelines were reviewed...
February 2017: Fertility and Sterility
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