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https://www.readbyqxmd.com/read/29790070/genotyping-single-sperm-cells-by-universal-marsala-enables-the-acquisition-of-linkage-information-for-combined-pre-implantation-genetic-diagnosis-and-genome-screening
#1
Haitao Wu, Xiaoting Shen, Lei Huang, Yanhong Zeng, Yumei Gao, Lin Shao, Baomin Lu, Yiping Zhong, Benyu Miao, Yanwen Xu, Yali Wang, Yubin Li, Luoxing Xiong, Sijia Lu, X Sunney Xie, Canquan Zhou
PURPOSE: This paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement of genotyping relevant affected family members or lengthy preliminary work on linkage analysis. METHODS: By utilizing a universal Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) strategy based on low depth whole genome sequencing (~3x), not involving specific primers' design nor the enrichment of SNP markers for haplotype construction...
May 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29788286/extracorporeal-life-support-for-primary-graft-dysfunction-after-heart-transplantation
#2
Matteo Pozzi, Chiara Bottin, Xavier Armoiry, Laurent Sebbag, Pascale Boissonnat, Elisabeth Hugon-Vallet, Catherine Koffel, Claire Flamens, Sylvie Paulus, Jean Luc Fellahi, Jean Francois Obadia
OBJECTIVES: Survival after heart transplantation is steadily improving but primary graft dysfunction (PGD) is still a leading cause of death. Medical management seems useful in mild or moderate PGD, whereas extracorporeal life support (ECLS) could be suggested for severe PGD refractory to conventional treatment. Our aim is to present the results of ECLS for PGD after heart transplantation at a single-centre experience. METHODS: We performed an observational analysis of our local database...
May 17, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#3
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29778095/establishing-an-innovative-carbohydrate-metabolic-pathway-for-efficient-production-of-2-keto-l-gulonic-acid-in-ketogulonicigenium-robustum-initiated-by-intronic-promoters
#4
Cai-Yun Wang, Ye Li, Zi-Wei Gao, Li-Cheng Liu, Meng-Yue Zhang, Tian-Yuan Zhang, Chun-Fu Wu, Yi-Xuan Zhang
BACKGROUND: 2-Keto-L-gulonic acid (2-KGA), the precursor of vitamin C, is currently produced by two-step fermentation. In the second step, L-sorbose is transformed into 2-KGA by the symbiosis system composed of Ketogulonicigenium vulgare and Bacillus megaterium. Due to the different nutrient requirements and the uncertain ratio of the two strains, the symbiosis system significantly limits strain improvement and fermentation optimization. RESULTS: In this study, Ketogulonicigenium robustum SPU_B003 was reported for its capability to grow well independently and to produce more 2-KGA than that of K...
May 19, 2018: Microbial Cell Factories
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#5
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29757910/ishlt-primary-graft-dysfunction-incidence-risk-factors-and-outcome-a-uk-national-study
#6
Sanjeet Singh Avtaar Singh, Nicholas R Banner, Sally Rushton, Andre R Simon, Colin Berry, Nawwar Al-Attar
BACKGROUND: Heart transplantation (HTx) remains the most effective long-term treatment for advanced heart failure. Primary graft dysfunction (PGD) continues to be a potentially life-threatening early complication. In 2014, a consensus statement released by ISHLT established diagnostic criteria for PGD. We studied the incidence of PGD across the UK. METHODS: We analysed the medical records of all adult patients who underwent heart transplantation between October 2012-October 2015 in the 6 UK heart transplant centers Preoperative donor and recipient characteristics, intraoperative details and posttransplant complications were compared between the PGD and non PGD groups using the ISHLT definition...
May 1, 2018: Transplantation
https://www.readbyqxmd.com/read/29757102/how-religious-and-spiritual-beliefs-explain-prolonged-grief-disorder-symptoms
#7
Kim Christian, Samar M Aoun, Lauren J Breen
This study investigated the importance of religious and spiritual beliefs in daily life in explaining Prolonged Grief Disorder (PGD) symptomatology. Participants were 588 bereaved adults who completed a questionnaire. The importance of spiritual beliefs in daily life explained a small to medium, significant 3% of variance in PGD symptoms, but religious beliefs in daily life did not. Individuals who placed moderate importance on spiritual beliefs in their daily life may experience more intense grief.
May 14, 2018: Death Studies
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#8
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29722953/can-trophectoderm-morphology-act-as-a-predictor-for-euploidy
#9
Ivan H Yoshida, Monise Santos, Caroline Z Berton, Caroline L Chiarella, Michelli S Tanada, Emerson BCordts, Waldemar P de Carvalho, Caio P Barbosa
OBJECTIVE: Euploid embryo transfers yield better implantation rates. In Brazil, morphological evaluation is performed to select the best embryos, since genetic analysis is still an expensive procedure. This study aimed to evaluate whether there is an association between trophectoderm morphology and ploidy status. METHODS: The study included 113 blastocysts formed in D5/D6 from 58 in vitro fertilization cycles held from January/2016 to May/2017. All patients with indication for PGD/PGS were included in the study...
May 3, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29712764/the-grief-of-mothers-after-the-sudden-unexpected-death-of-their-infants
#10
Richard D Goldstein, Ruth I Lederman, Wendy G Lichtenthal, Sue E Morris, Melanie Human, Amy J Elliott, Deb Tobacco, Jyoti Angal, Hein Odendaal, Hannah C Kinney, Holly G Prigerson
: media-1vid110.1542/5741323271001PEDS-VA_2017-3651 Video Abstract BACKGROUND: The loss of a child is associated with elevated grief severity, and sudden infant death syndrome (SIDS) is the leading cause of postneonatal mortality in the United States. The diagnosis of prolonged grief disorder (PGD) has gained broader acceptance and use. Little is known about PGD in mothers after SIDS. METHODS: Between May 2013 and July 2016, we assessed 49 SIDS-bereaved mothers living in informal settlements near Cape Town, South Africa, and on the Pine Ridge Indian Reservation and 359 SIDS-bereaved mothers affiliated with SIDS parent-support organizations in the United States, United Kingdom, Australia, New Zealand, and the Netherlands...
April 30, 2018: Pediatrics
https://www.readbyqxmd.com/read/29699850/donor-predicted-heart-mass-as-predictor-of-primary-graft-dysfunction
#11
Timothy A Gong, Susan M Joseph, Brian Lima, Gonzalo V Gonzalez-Stawinski, Aayla K Jamil, Joost Felius, Huanying Qin, Giovanna Saracino, Aldo E Rafael, Parag Kale, Shelley A Hall
BACKGROUND: Concern over the hazards associated with undersized donor hearts has impeded the utilization of otherwise viable allografts for transplantation. Previous studies have indicated predicted heart mass (PHM) may provide better size matching in cardiac transplantation than total body weight (TBW). We investigated whether size-matching donor hearts by PHM is a better predictor of primary graft dysfunction (PGD) than matching by TBW. METHODS: Records of consecutive adult cardiac transplants performed between 2012 and 2016 at a single-center academic hospital were reviewed...
March 17, 2018: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29678193/treating-prolonged-grief-disorder-with-prolonged-grief-specific-cognitive-behavioral-therapy-study-protocol-for-a-randomized-controlled-trial
#12
Rita Rosner, Eline Rimane, Anna Vogel, Jörn Rau, Maria Hagl
BACKGROUND: Prolonged grief disorder (PGD) has emerged as a well-defined and relatively common mental disorder that will be included in the upcoming revision of the International Classification of Diseases. Recent trials with grief-specific, mostly cognitive behavioral interventions for patients with a clinically relevant diagnosis of PGD showed large effect sizes. However, a small trial suggested that non-specific behavioral activation might suffice to improve PGD. So, more evidence for the relative efficacy of grief-specific treatments is needed, as is more research on the predictors of treatment success...
April 20, 2018: Trials
https://www.readbyqxmd.com/read/29677633/differences-in-the-bovine-milk-whey-proteome-between-early-pregnancy-and-the-estrous-cycle
#13
D Johnston, I Malo Estepa, H A Ebhardt, M A Crowe, M G Diskin
Current bovine pregnancy detection methods are not reliable until at least day 28 post artificial insemination (AI). The bovine estrous cycle is approximately 21 days; consequently, producers miss an opportunity to rebreed at the next estrous event. Therefore, commercial interest exists for the discovery of novel biomarkers of pregnancy which could reliably detect pregnancy status at or before day 21 of pregnancy. The objective of the present study was to use liquid chromatography tandem mass spectrometry (LC-MS/MS) to perform a global, label-free, proteomics study on (i) milk whey and (ii) extracellular vesicle (EV) enriched milk whey samples, from day 21 of pregnancy, compared with day 21 of the estrous cycle, in order to identify potential protein biomarkers of early pregnancy...
April 12, 2018: Theriogenology
https://www.readbyqxmd.com/read/29676939/diffusion-kurtosis-imaging-in-the-differential-diagnosis-of-parotid-gland-disease-and-parotid-adenolymphoma-preliminary-results
#14
Shun Yu, Zhongshuai Zhang, Bao Qiang, S U Jiawei, Mengxiao Liu, Qinglei Shi, Wenchao Cai
PURPOSE: To study the value of diffusion kurtosis imaging (DKI) in diagnosis of parotid gland disease (PGD) with different pathological patterns and parotid adenolymphoma (PAL). METHODS: Fifty-seven patients with different kinds of PGD were enrolled and underwent DKI and conventional diffusion-weighted imaging (DWI). All patients were categorized into different groups according to their pathological patterns. The result of calculating the value of DKI-derived parameters (Kmean, Krad, Kax, Dmean, Drad, Dax, and FA) and apparent diffusion coefficient (ADC) of DWI were used to study their diagnostic accuracy in PGD with different pathological patterns...
April 20, 2018: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/29668062/long-term-outcomes-and-molecular-analysis-of-a-large-cohort-of-patients-with-46-xy-disorder-of-sex-development-due-to-partial-gonadal-dysgenesis
#15
Nathalia Lisboa Gomes, Antônio Marcondes Lerário, Aline Machado Zamboni, Daniela Rodrigues de Moraes, Thatiana Evilen da Silva, Ivo Jorge Prado Arnhold, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Elaine F Costa, Mirian Y Nishi, Marlene Inacio, Sorahia Domenice, Berenice B Mendonca
BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype, and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs)...
April 18, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29667775/views-of-parents-of-children-with-sickle-cell-disease-on-pre-implantation-genetic-diagnosis
#16
Isha Darbari, Jeanne E O'Brien, Steven J Hardy, Barbara Speller-Brown, Lisa Thaniel, Brenda Martin, Deepika S Darbari, Robert S Nickel
Pre-implantation genetic diagnosis (PGD) is an option for parents who have a child with sickle cell disease (SCD) to have another child without SCD. We conducted a survey of 19 parents with at least one child with SCD to investigate views on PGD. Before education, 44% of parents were aware of PGD. All parents rated PGD education as important. All parents considering another child also reported interest in using PGD if insurance covered its costs. Parents who have a child with SCD appear to be interested in PGD and educational tools informing this group about PGD should be developed...
April 18, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29657209/spectrum-of-biopsy-proven-renal-diseases-a-single-center-experience
#17
Lakshminarayana R Gopaliah, Indu Sudakaran, Seethalekshmy Vijayan Nalumakkal, Ranjit Narayanan, Biju Meckattuparamban Vareed
Kidney biopsy is one of the most important tools in the assessment of kidney disease as histopathological diagnosis promotes evidence-based practice in Nephrology. This study included 271 consecutive percutaneous kidney biopsies (145 males and 126 females) performed at EMS Memorial Cooperative Hospital, Perinthalmanna, Kerala, India, from September 2009 to March 2016. Among the biopsy-proven renal diseases (BPRD), primary glomerular diseases (PGD) were the most common (77.78%) followed by secondary glomerular diseases (SGD) (12...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29650408/normothermic-ex-vivo-preservation-with-the-portable-organ-care-system-lung-device-for-bilateral-lung-transplantation-inspire-a-randomised-open-label-non-inferiority-phase-3-study
#18
Gregor Warnecke, Dirk Van Raemdonck, Michael A Smith, Gilbert Massard, Jasleen Kukreja, Federico Rea, Gabriel Loor, Fabio De Robertis, Jayan Nagendran, Kumud K Dhital, Francisco Javier Moradiellos Díez, Christoph Knosalla, Christian A Bermudez, Steven Tsui, Kenneth McCurry, I-Wen Wang, Tobias Deuse, Guy Lesèche, Pascal Thomas, Igor Tudorache, Christian Kühn, Murat Avsar, Bettina Wiegmann, Wiebke Sommer, Arne Neyrinck, Marco Schiavon, Fiorella Calebrese, Nichola Santelmo, Anne Olland, Pierre-Emanuel Falcoz, Andre R Simon, Andres Varela, Joren C Madsen, Marshall Hertz, Axel Haverich, Abbas Ardehali
BACKGROUND: Severe primary graft dysfunction (PGD) of grade 3 (PGD3) is a common serious complication following lung transplantation. We aimed to assess physiological donor lung preservation using the Organ Care System (OCS) Lung device compared with cold static storage. METHODS: In this non-inferiority, randomised, controlled, open-label, phase 3 trial (INSPIRE) recipients were aged 18 years or older and were registered as standard criteria primary double lung transplant candidates...
April 9, 2018: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29649618/preimplantation-high-resolution-hla-sequencing-using-next-generation-sequencing
#19
Maryam Rafati, Mohammad Mahdi Akhondi, Mohammad Reza Sadeghi, Seyedeh Zahra Tara, Saeed Reza Ghaffari
Hematopoietic Stem Cell Transplantation (HSCT) is the only therapeutic option in a number of heritable hematologic disorders as well as hematologic cancers. Many parents and families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving for a savior baby remains the only option especially in countries without access to national registries. By means of Next Generation Sequencing (NGS) techniques, in a single experiment on single cell products of IVF, a healthy HLA-identical embryo can be implanted in the uterus of a concerned mother...
April 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29627226/does-preimplantation-genetic-diagnosis-improve-reproductive-outcome-in-couples-with-recurrent-pregnancy-loss-owing-to-structural-chromosomal-rearrangement-a-systematic-review
#20
REVIEW
Mahmoud Iews, Justin Tan, Omur Taskin, Sukainah Alfaraj, Faten F AbdelHafez, Ahmed H Abdellah, Mohamed A Bedaiwy
Recurrent pregnancy loss (RPL) is a common, yet elusive, complication of pregnancy. Among couples at high risk of RPL, such as those carrying a structural chromosomal rearrangement, preimplantation genetic diagnosis (PGD) has been proposed as a tool to improve live birth rates and reduce the incidence of miscarriage; however, no clear consensus has been reached on its benefits in this population. This systematic review summarizes existing published research on the effect of PGD on pregnancy outcomes among carriers of chromosomal abnormalities with RPL...
March 15, 2018: Reproductive Biomedicine Online
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