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https://www.readbyqxmd.com/read/28905883/acceptable-applications-of-preimplantation-genetic-diagnosis-pgd-among-israeli-pgd-users
#1
Shachar Zuckerman, David A Zeevi, Sigal Gooldin, Gheona Altarescu
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28898561/haptic-simulation-of-tissue-tearing-during-surgery
#2
C Quesada, I Alfaro, D González, F Chinesta, E Cueto
We present a method for the real-time, interactive simulation of tissue tearing during laparoscopic surgery. The method is designed to work at haptic feedback rates (i.e., around 1kHz). Tissue tearing is simulated under the general framework of continuum damage mechanics. The problem is stated as a general, multidimensional parametric problem, which is solved by means of Proper Generalized Decomposition (PGD) methods. One of the main novelties is the reduction of history-dependent problems, such as damage mechanics, by resorting to an approach in which a reduced-order field of initial damage values is considered as a parameter of the formulation...
September 12, 2017: International Journal for Numerical Methods in Biomedical Engineering
https://www.readbyqxmd.com/read/28888353/preimplantation-genetic-diagnosis-and-screening-current-status-and-future-challenges
#3
REVIEW
Hsin-Fu Chen, Shee-Uan Chen, Gwo-Chin Ma, Sung-Tsang Hsieh, Horng-Der Tsai, Yu-Shih Yang, Ming Chen
Preimplantation genetic diagnosis (PGD) is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted the diseases to the future offsprings. The major technical hurdle is it does not have a general formula for all mutations, thus different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scarce, whereas timely result is sometimes requested if fresh embryo transfer is desired...
September 6, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28885040/validation-of-next-generation-sequencer-for-24-chromosome-aneuploidy-screening-in-human-embryos
#4
Kabir Sachdeva, Richard Discutido, Firas Albuz, Rawan Almekosh, Braulio Peramo
BACKGROUND: Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM: The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS: Embryo biopsy, whole-genome amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed. RESULTS: A total of 204 whole-genome-amplified products were tested with an NGS-based protocol, from which 100 samples were used for standardization and to evaluate the quality of the results produced by this new technique...
September 8, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28878823/a-de-novo-complex-chromosome-rearrangement-associated-with-multisystematic-abnormalities-a-case-report
#5
Chan Tian, Dan Li, Ping Liu, Liping Jiao, Xuefeng Gao, Jie Qiao
BACKGROUND: Complex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints. CASE PRESENTATION: Here, we describe a four-way CCR involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic abnormalities during his development, including defects in his eyes and teeth, exomphalos and asthenozoospermia. His wife had two spontaneous abortions during the first trimester...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28872353/quantitative-evidence-for-revising-the-definition-of-primary-graft-dysfunction-after-lung-transplant
#6
Edward Cantu, Joshua M Diamond, Yoshikazu Suzuki, Jared Lasky, Christian Schaufler, Brian Lim, Rupal Shah, Mary Porteous, David J Lederer, Steven M Kawut, Scott M Palmer, Laurie D Snyder, Matthew G Hartwig, Vibha N Lama, Sangeeta Bhorade, Christian Bermudez, Maria Crespo, John McDyer, Keith Wille, Jonathan Orens, Pali D Shah, Ann Weinacker, David Weill, David Wilkes, David Roe, Chadi Hage, Lorraine B Ware, Scarlett L Bellamy, Jason D Christie
RATIONALE: Primary graft dysfunction (PGD) is a form of acute lung injury that occurs after lung transplantation. The definition of PGD was standardized in 2005. Since that time, clinical practice has evolved and this definition is increasingly used as a primary endpoint for clinical trials; therefore, validation is warranted. OBJECTIVE: We sought to determine whether refinements to the 2005 consensus definition could further improve construct validity. METHODS: Data from the Lung Transplant Outcomes Group multi-centered cohort was used to compare variations to the PGD definition, including alternate oxygenation thresholds, inclusion of additional severity groups, and effects of procedure type and mechanical ventilation...
September 5, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28863935/preferential-selection-and-transfer-of-euploid-noncarrier-embryos-in-preimplantation-genetic-diagnosis-cycles-for-reciprocal-translocations
#7
Li Wang, Jiandong Shen, David S Cram, Minyue Ma, Hui Wang, Wenke Zhang, Junmei Fan, Zhiying Gao, Liwen Zhang, Zhifeng Li, Mengnan Xu, Don A Leigh, Alan O Trounson, Jiayin Liu, Yuanqing Yao
OBJECTIVE: To develop and validate a new strategy to distinguish between balanced/euploid carrier and noncarrier embryos in preimplantation genetic diagnosis (PGD) cycles for reciprocal translocations and to successfully achieve a live birth after selective transfer of a noncarrier embryo. DESIGN: Retrospective and prospective study. SETTING: In vitro fertilization (IVF) units. PATIENT(S): Eleven patients undergoing mate pair sequencing for identification of translocation breakpoints, followed by clinical PGD cycles...
August 29, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28851825/embryo-biopsy-and-development-the-known-and-unknown
#8
Federica Zacchini, Roberta Arena, Adam Abramik, Grazyna Ewa Ptak
Preimplantation genetic diagnosis (PGD) has been introduced in clinical practice as a tool for selecting "healthy" embryos before their transfer in utero. PGD protocols include biopsy of cleaving embryos (Blastomere Biopsy - BB) or blastocysts (trophectoderm biopsy - TB), followed by genetic analysis to select "healthy" embryos for transfer in utero. Currently, TB is replacing the use of BB in the clinical practice. However, based on the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium reports, BB has been used in >87% of PGD cycles for more than 10 years...
August 29, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28844405/genetic-and-epigenetic-risks-of-assisted-reproduction
#9
REVIEW
Ziru Jiang, Yinyu Wang, Jing Lin, Jingjing Xu, Guolian Ding, Hefeng Huang
Assisted reproductive technology (ART) is used primarily for infertility treatments to achieve pregnancy and involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. Moreover, preimplantation genetic diagnosis (PGD) of ART is used in couples for genetic reasons. In ART treatments, gametes and zygotes are exposed to a series of non-physiological processes and culture media. Although the majority of children born with this treatment are healthy, some concerns remain regarding the safety of this technology...
August 3, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28837023/assisted-reproductive-techniques-in-latin-america-the-latin-american-registry-2014
#10
Fernando Zegers-Hochschild, Juan Enrique Schwarze, Javier A Crosby, Carolina Musri, Maria Teresa Urbina
Multinational data on assisted reproduction techniques undertaken in 2014 were collected from 159 institutions in 15 countries in Latin America. Treatments included IVF/ ICSI, FET, OD, PGD and fertility preservation (FP). 41.34% of IVF/ICSI cycles were performed in women aged 35 to 39 years and 23.35% in women aged 40 and older. After removing cases with total freezing, delivery rate per oocyte retrieval was 25.05% for ICSI and 27.41% for IVF. Multiple births included 20.78% twins and 0.92 % triplets and over...
September 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28831696/brca1-mutation-carriers-have-a-lower-number-of-mature-oocytes-after-ovarian-stimulation-for-ivf-pgd
#11
I A P Derks-Smeets, T C van Tilborg, A van Montfoort, L Smits, H L Torrance, M Meijer-Hoogeveen, F Broekmans, J C F M Dreesen, A D C Paulussen, V C G Tjan-Heijnen, I Homminga, M M J van den Berg, M G E M Ausems, M de Rycke, C E M de Die-Smulders, W Verpoest, R van Golde
PURPOSE: The aim of this study was to determine whether BRCA1/2 mutation carriers produce fewer mature oocytes after ovarian stimulation for in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), in comparison to a PGD control group. METHODS: A retrospective, international, multicenter cohort study was performed on data of first PGD cycles performed between January 2006 and September 2015. Data were extracted from medical files. The study was performed in one PGD center and three affiliated IVF centers in the Netherlands and one PGD center in Belgium...
August 22, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28825921/pure-glaucoma-drugs-are-toxic-to-immortalized-human-corneal-epithelial-cells-but-they-do-not-destabilize-lipid-membranes
#12
Alexandra Robciuc, Joanna Witos, Suvi-Katriina Ruokonen, Antti H Rantamäki, Pierre-Jean Pisella, Susanne K Wiedmer, Juha M Holopainen
PURPOSE: Most pure glaucoma drugs (pGDs) are hydrophobic substances intended to reduce elevated intraocular pressure. The aims of our study were to determine the toxicity of pGDs (brimonidine tartrate, brinzolamide, latanoprost, timolol maleate, and pilocarpine hydrochloride) on ocular surface cells and to establish whether their toxicity is subsequent to cellular membrane destabilization. METHODS: The toxicity of clinically efficient doses of pGDs was measured at different time points in a cell culture of human corneal epithelial cells using a redox indicator...
October 2017: Cornea
https://www.readbyqxmd.com/read/28822659/incidence-and-risk-factors-of-groin-lymphocele-formation-after-venoarterial-extracorporeal-membrane-oxygenation-in-cardiogenic-shock-patients
#13
Michael Salna, Hiroo Takayama, Arthur R Garan, Paul Kurlansky, Maryjane A Farr, Paolo C Colombo, Thomas Imahiyerobo, Nicholas Morrissey, Yoshifumi Naka, Koji Takeda
OBJECTIVE: Venous-arterial extracorporeal membrane oxygenation (VA-ECMO) is a well-established therapy for refractory cardiopulmonary failure. Femoral cannulation offers a quick and effective means of providing circulatory support but is not without complication. Inflammation or lymphatic disruption at the site of cannulation can cause the formation of lymphoceles, leading to the patient's discomfort and possibly necessitating intervention. The purpose of this study was to evaluate the incidence of in-hospital lymphocele formation in VA-ECMO patients and to identify predictors for their development...
August 16, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28815718/a-potential-high-risk-for-fatty-liver-disease-was-found-in-mice-generated-after-assisted-reproductive-techniques
#14
Leilei Gu, Jingjing Zhang, Meimei Zheng, Guoying Dong, Jingyi Xu, Wuyue Zhang, Yibo Wu, Yang Yang, Hui Zhu
Abnormal gametogenesis and embryonic development may lead to poor health status of the offspring. The operations involved in the assisted reproductive technologies (ARTs) occur during the key stage of gametogenesis and early embryonic development. To assess the potential risk of abnormal lipid metabolism in the liver of adult ARTs offspring, two ARTs mice models derived from preimplantation genetic diagnosis (PGD group) and in vitro cultured embryos without biopsy (IVEM group) were constructed. And control mice were from in vivo naturally conceived (Normal group)...
August 16, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#15
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28797703/preimplantation-genetic-diagnosis-of-x-linked-charcot-marie-tooth-disease-by-indirect-linkage-analysis
#16
Irena Borgulová, Martina Putzová, Inna Soldatova, David Stejskal
OBJECTIVE: To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. PATIENTS AND METHODS: We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p...
August 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28756497/natural-selection-between-day-3-and-day-5-6-pgd-embryos-in-couples-with-reciprocal-or-robertsonian-translocations
#17
Claire E Beyer, E Willats
PURPOSE: For translocation carriers, preimplantation genetic diagnosis (PGD) provides the opportunity to distinguish between normal/balanced and unbalanced embryos prior to implantation and, as such, increases the likelihood of a successful ongoing pregnancy. The data presented here compares autosomal reciprocal and Robertsonian translocation segregation patterns in day 3 versus day 5/6 IVF-PGD embryos to determine if there is a difference in the chromosome segregation patterns observed at these developmental time points...
July 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28737261/does-prolonged-grief-treatment-foster-posttraumatic-growth-secondary-results-from-a-treatment-study-with-long-term-follow-up-and-mediation-analysis
#18
Helga Bartl, Maria Hagl, Michaela Kotoučová, Gabriele Pfoh, Rita Rosner
OBJECTIVES: Prolonged grief disorder (PGD) is a persistent and disabling kind of grief reaction that can be treated effectively with psychotherapeutic interventions. There has been limited investigation of whether these interventions can also enhance positive outcomes of bereavement, such as posttraumatic growth or benefit finding. DESIGN: As part of secondary analyses in a randomized controlled trial evaluating integrative cognitive-behavioural therapy for PGD (PG-CBT), the posttraumatic growth trajectories in 51 outpatients with clinically relevant prolonged grief symptoms were followed up from baseline up to 1...
July 24, 2017: Psychology and Psychotherapy
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#19
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28725950/genome-editing-and-assisted-reproduction-curing-embryos-society-or-prospective-parents
#20
Giulia Cavaliere
This paper explores the ethics of introducing genome-editing technologies as a new reproductive option. In particular, it focuses on whether genome editing can be considered a morally valuable alternative to preimplantation genetic diagnosis (PGD). Two arguments against the use of genome editing in reproduction are analysed, namely safety concerns and germline modification. These arguments are then contrasted with arguments in favour of genome editing, in particular with the argument of the child's welfare and the argument of parental reproductive autonomy...
July 19, 2017: Medicine, Health Care, and Philosophy
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