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Sylvia R Kodsi, Sara L Bristow, Joyce E Fox, Avner Hershlag
Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.
March 13, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Judy F C Chow, William S B Yeung, Vivian C Y Lee, Estella Y L Lau, Ernest H Y Ng
OBJECTIVES: To evaluate the applicability of a commonly used next generation sequencing workflow in detecting unbalanced meiotic segregation products for reciprocal translocation and inversion carriers. STUDY DESIGN: All preimplantation genetic testing treatment cycles performed for reciprocal translocation or inversion carriers from 2012 to April 2017 were included. Three hundreds and forty-two archived whole genome amplified DNA, which had previously analyzed by array comparative genomic hybridization (aCGH), were retrospectively analyzed by next generation sequencing (NGS)...
March 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Masami Hayashi, Kayo Yoshida, Kohei Kitada, Akane Kizu, Daisuke Tachibana, Mitsuru Fukui, Takashi Morita, Masayasu Koyama
PURPOSE: To study the outcomes of mouse preimplantation embryos irradiated with low doses of X-rays (≤ 1 Gy) and investigate apoptosis and pluripotency of the irradiated embryos. METHODS: Mouse embryos at the 2-cell stage were collected for in vitro culture. After reaching the 8-cell stage, embryos were irradiated with various low doses of X-rays (0-1 Gy). Blastocysts with a normal appearance were transferred into a pseudopregnant uterus. The developmental rate to blastocysts and the survival rate following embryo transfer were examined...
March 16, 2018: Journal of Assisted Reproduction and Genetics
Te-Sha Tsai, Sonika Tyagi, Justin C St John
STUDY QUESTION: What are the molecular differences between mitochondrial DNA (mtDNA)-deficient and mtDNA-normal oocytes and how does mitochondrial supplementation alter these? SUMMARY ANSWER: Changes to DNA methylation in a 5' cytosine-phosphate-guanine 3' (CpG) island in the mtDNA-specific replication factor (DNA polymerase gamma (POLG)) of mtDNA-deficient oocytes mediates an increase in mtDNA copy number by the 2-cell stage that positively modulates the expression of nuclear genes, which affect cellular and metabolic processes, following autologous mitochondrial supplementation...
March 13, 2018: Human Reproduction
M Irani, N Zaninovic, C Canon, C O'Neill, V Gunnala, Q Zhan, G Palermo, D Reichman, Z Rosenwaks
STUDY QUESTION: Is there a benefit to assessing ploidy in delayed embryos reaching the morula stage on Day 6 of development? SUMMARY ANSWER: Day-6 morulae should be considered for biopsy in women <40 years old undergoing preimplantation genetic testing for aneuploidy (PGT-A) because they are associated with acceptable, albeit reduced, euploidy and implantation rates (IRs). WHAT IS KNOWN ALREADY: Embryo development and morphology have been shown to correlate with aneuploidy and pregnancy rates...
March 13, 2018: Human Reproduction
Qingqing Wei, Ruiqi Li, Liang Zhong, Haiyuan Mu, Shaopeng Zhang, Liang Yue, Jinzhu Xiang, Enhong Li, Minglei Zhi, Suying Cao, Jianyong Han
After zygotic genome activation and lineage specification, zygotes develop into late blastocysts comprising three distinct cell types. The molecular mechanisms underlying this progress are largely unknown in pigs. Here, we intended to analyze an extensive set of regulators at the single-cell level to define the events involved in the development of the porcine blastocysts. Using a quantitative microfluidics approach in single cells, we detected mRNA levels of 96 genes known to function in early embryonic development and maintenance of stem cell pluripotency simultaneously in 480 individual cells derived from porcine preimplantation embryos...
March 13, 2018: Biology of Reproduction
Gabriel Carvajal, Denis Dupoiron, Valerie Seegers, Nathalie Lebrec, François Boré, Pierre-Yves Dubois, Damien Leblanc, Thierry Delorme, Sabrina Jubier-Hamon
BACKGROUND: Pancreatic cancer is the fourth leading cause of cancer-related death in Europe and the United States. Studies have demonstrated that patients with pancreatic cancer have a high prevalence of pain, with rates varying from 47% to 82%. Analgesia using intrathecal drug delivery systems (IDDS) has been poorly studied specifically in this population. METHODS: The IDDS for pancreatic cancer pain was a follow-up observational study designed to evaluate 11-year results of IDDS for refractory pancreatic cancer pain at the Institut de Cancérologie de L'Ouest, Paul Papin in France...
March 14, 2018: Anesthesia and Analgesia
Annika Selvick, Rita Lloyd
The Nuss procedure has become the predominant reason for the use of metal implants by pediatric general and thoracic surgeons. Current guidelines recommend preimplant testing for all patients undergoing the Nuss procedure, which differs from the guidelines for all other orthopedic procedures. This review was done to further evaluate this discrepancy.
February 28, 2018: Dermatitis
Laura Masala, Federica Ariu, Luisa Bogliolo, Emanuela Bellu, Sergio Ledda, Daniela Bebbere
Oocytes from prepubertal animals have a reduced ability to undergo embryo development and produce viable offspring. The present work used an ovine model consisting of oocytes derived from adult and prepubertal donors to assess the molecular status of oocytes and preimplantation embryos with different developmental competence. The lower potential of oocytes of young donors was confirmed in terms of in vitro developmental capabilities and kinetics. A panel of genes including maternal effect (DPPA3, GDF9, NMP2, ZAR1) and housekeeping genes (ACTB, RPL19, SDHA, YWHAZ, ATP1A1), genes involved in DNA methylation (DNMT1, DNMT3A, DNMT3B), genomic imprinting (IGF2R), pluripotency (NANOG, POU5F1) and cell cycle regulation (CCNB1, CDK1, MELK) was relatively quantified...
March 15, 2018: Molecular Reproduction and Development
Verónica M Negrón-Pérez, Luana Teixeira Rodrigues, Gisele Zoccal Mingoti, Peter J Hansen
Rho-associated coiled-coil containing protein kinases (ROCK1 and ROCK2) are activated by binding to RHO GTPases and phosphorylate a variety of downstream targets including actinomyosin. In the mouse embryo, ROCK signaling acts to promote formation of trophectoderm (TE) and inhibit formation of the inner cell mass (ICM) by polarizing outer cells of the embryo to inactivate Hippo signaling (Kono et al., 2014; Mihajlović and Bruce, 2016). This article is protected by copyright. All rights reserved.
March 15, 2018: Molecular Reproduction and Development
Veronika L Flöter, Anne-Kathrin Lorenz, Benedikt Kirchner, Michael W Pfaffl, Stefan Bauersachs, Susanne E Ulbrich
Porcine conceptuses synthesize estrogens between day 11 and 12 as signal for maternal recognition of pregnancy. A preimplantational estrogen exposure to pregnant gilts has been associated with embryonic losses and changes in endometrial mRNA expression. MicroRNAs (miRNAs) play a key role in the mRNA regulation by modulating the expression. Effects of estrogens on endometrial miRNAs have not been investigated in this context so far. Thus, we studied the endometrial expression profile of miRNAs in the pig at gestational day 10 after daily estradiol-17β (E2) application starting at fertilization using either 0, 0...
March 15, 2018: Molecular Reproduction and Development
Yan Hao, Dawei Chen, Zhiguo Zhang, Ping Zhou, Yunxia Cao, Zhaolian Wei, Xiaofeng Xu, Beili Chen, Weiwei Zou, Mingrong Lv, Dongmei Ji, Xiaojin He
Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...
April 2018: Oncology Letters
Michael W Pankhurst, Rebecca L Kelley, Rachel L Sanders, Savana R Woodcock, Dorothy E Oorschot, Nicola J Batchelor
Anti-Müllerian hormone (AMH) is an ovarian regulator that affects folliculogenesis. AMH inhibits the developmental activation of the dormant primordial follicles and the oocyte within. In more mature follicles, AMH reduces granulosa cell sensitivity to follicle-stimulating hormone (FSH). We examined the effects of AMH overexpression on the stages of ovarian folliculogenesis, and the development of embryos, with a transgenic mouse that overexpresses human AMH in central nervous system neurons under the control of the mouse Thy1...
March 14, 2018: Journal of Endocrinology
Philipp Kauffmann, Anna Rau, Wilfried Engelke, Markus Troeltzsch, Phillip Brockmeyer, Lauer-Saridakis Dagmar, Robert Cordesmeyer
PURPOSE: Preoperative planning of the implant position as part of a coordinated prosthetic and surgical concept is becoming increasingly important regarding function and esthetics. The aim of this study was to investigate the transmission accuracy of template fixation during surgery in edentulous arches with hand fixation in comparison to intermediary screw fixation. MATERIALS AND METHODS: Preoperatively, 10 implant positions were planned using computed tomography (CT) with the system med3D for implant placement in four mandible models of the Goettingen study model, using a prosthetic diagnostic template...
March 2018: International Journal of Oral & Maxillofacial Implants
Anthony Albert, Mel Mupparapu
Supernumerary teeth are an uncommon occurrence that have the ability to arise anywhere in the dental arch. Mesiodens is a specific type of supernumerary tooth that occurs in the vicinity of the maxillary central incisors. Mesiodens are the most common among all supernumerary teeth, almost always impacted, and may also be seen in various positions based on the eruption status. The formation of mesiodens is a much-debated topic and many theories have been proposed. The reports also include its common radiographic findings and a pertinent literature review...
March 12, 2018: Quintessence International
Laura N Nguyen, Jamie Bartley, Kim A Killinger, Priyanka Gupta, John Lavin, Ayad Khourdaji, Jason Gilleran, Natalie Gaines, Judith A Boura, Kenneth M Peters
AIMS: To evaluate whether baseline symptoms and outcomes are influenced by gender in a matched cohort undergoing neuromodulation. METHODS: Patients in our prospective neuromodulation database that had a tined lead placed were reviewed. Those that had implantable pulse generator (IPG) placed were matched on age and urologic diagnosis. History, voiding diaries, satisfaction, Interstitial Cystitis Symptom/Problem Index (ICSIPI), and overactive bladder symptom severity (OABq ss)/health-related quality of life (HRQOL) preimplant and over 3 years were evaluated using descriptive statistics, repeated measures, and matched pair GEE or mixed analyses...
March 13, 2018: International Urology and Nephrology
Joshua Shaw
This essay considers one argument used to defend parents who use preimplantation genetic diagnosis (PGD) to select for deafness and other disabilities. Some bioethicists have argued that a distinction should be drawn between genetically modifying embryos to possess disabilities and using PGD to select embryos that already present markers of them, and that the former is unethical because it inflicts avoidable harms onto the resulting children, whereas the latter is permissible because it allows children with potentially impaired abilities to exist...
April 2018: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
Sahil Agrawal, Lohit Garg, Mahek Shah, Manyoo Agarwal, Brijesh Patel, Amitoj Singh, Aakash Garg, Ulrich P Jorde, Navin K Kapur
BACKGROUND: Early readmissions contribute significantly to heart failure-related morbidity and negatively affect quality of life. Data on left ventricular assist device (LVAD)-related 30-day readmissions are scarce and limited to small studies. METHODS AND RESULTS: Patients undergoing LVAD implantation between January 2013 and November 2014 who survived the index hospitalization were identified in the Nationwide Readmissions Database. We analyzed the incidence, predictors, causes, and costs of 30-day readmissions...
March 2018: Circulation. Heart Failure
Edo Y Birati, Thomas C Hanff, Dawn Maldonado, E Wilson Grandin, Peter J Kennel, Jeremy A Mazurek, Esther Vorovich, Matthew Seigerman, Jessica L L Howard, Michael A Acker, Yoshifumi Naka, Joyce Wald, Lee R Goldberg, Mariell Jessup, Pavan Atluri, Kenneth B Margulies, P Christian Schulze, J Eduardo Rame
BACKGROUND: Predicting which patients are unlikely to benefit from continuous flow left ventricular assist device (LVAD) treatment is crucial for the identification of appropriate patients. Previously developed scoring systems are limited to past eras of device or restricted to specific devices. Our objective was to create a risk model for patients treated with continuous flow LVAD based on the preimplant variables. METHODS AND RESULTS: We performed a retrospective analysis of all patients implanted with a continuous flow LVAD between 2006 and 2014 at the University of Pennsylvania and included a total of 210 patients (male 78%; mean age, 56±15; mean follow-up, 465±486 days)...
March 7, 2018: Journal of the American Heart Association
Charles A Baumann, John R Baumann, Chantelle C Bozynski, Aaron M Stoker, James P Stannard, James L Cook
Articular defects are a major problem with few effective treatment options. Osteochondral allograft (OCA) transplantation can be an effective treatment; however, lack of OCA bone integration can cause failure. This controlled laboratory study was designed to compare clinically applicable methods for marrow element removal and enhanced delivery of bone marrow aspirate concentrate (BMC) to OCA bone. We hypothesized that compressed carbon dioxide (CO2 ) treatment of OCA bone would result in significantly better marrow element removal, significantly more retention and distribution of viable osteoprogenitor cells, and significantly higher osteoinductive protein elution from OCAs compared with other preimplantation treatments...
March 7, 2018: Journal of Knee Surgery
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