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https://www.readbyqxmd.com/read/28329159/concomitant-therapy-off-pump-coronary-revascularization-and-transcatheter-aortic-valve-implantation
#1
Samir Ahad, Kristina Wachter, Christian Rustenbach, Alina Stan, Stephan Hill, Tim Schäufele, Adrian Ursulescu, Ulrich F W Franke, Hardy Baumbach
OBJECTIVES: Significant coronary artery disease (CAD) is common among patients evaluated for transcatheter aortic valve implantation (TAVI). Only little data exist on outcome of patients undergoing concomitant off-pump coronary revascularization and TAVI. The goal of this study was to analyse the impact of concomitant off-pump revascularization on early clinical outcome and 2-year follow-up of patients undergoing TAVI. METHODS: A total of 70 patients with significant CAD and aortic valve stenosis were included between January 2011 and January 2016...
March 10, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28329086/obesity-history-and-daily-patterns-of-physical-activity-at-age-60-64-years-findings-from-the-mrc-national-survey-of-health-and-development
#2
Rachel Cooper, Lei Huang, Rebecca Hardy, Adina Crainiceanu, Tamara Harris, Jennifer A Schrack, Ciprian Crainiceanu, Diana Kuh
Background: The aim of this study was to investigate associations of current body mass index (BMI) and obesity history with daily patterns of physical activity. Methods: At age 60-64, participants from a British birth cohort study wore accelerometers for 5 days. Accelerometry counts were log-transformed and mean log-counts were used to derive a summary variable indicating total daily log-activity counts. Among those with complete data (n = 1,388) the associations of current BMI and age of first obesity were examined with: (a) total daily log-activity counts and (b) total log-activity counts in four segments of the day...
February 18, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28328959/kras-and-vegf-gene-3-utr-single-nucleotide-polymorphisms-predicted-susceptibility-in-colorectal-cancer
#3
Minnan Yang, Xiuli Xiao, Xiaorui Xing, Xin Li, Tian Xia, Hanan Long
Single nucleotide polymorphisms (SNPs) in tumor-related genes have been reported to play important roles in cancer development. Recent studies have shown that 3'-untranslated regions (UTR) polymorphisms are associated with the occurrence and prognosis of cancers. The aim of this study is to analyze the association between KRAS and VEGF gene 3'-UTR SNPs and genetic susceptibility to colorectal cancer (CRC). In this case-control study of 371 CRC cases and 246 healthy controls, we analyzed the association between one SNP (rs1137188G > A) in the KRAS gene and four SNPs (rs3025039C > T, rs3025040C > T, rs3025053G > A and rs10434A > G) in the VEGF gene and CRC susceptibility by the improved multiplex ligase detection reaction (iMLDR) method...
2017: PloS One
https://www.readbyqxmd.com/read/28328939/multimodal-mr-imaging-reveals-large-scale-structural-and-functional-connectivity-changes-in-profound-early-blindness
#4
Corinna M Bauer, Gabriella V Hirsch, Lauren Zajac, Bang-Bon Koo, Olivier Collignon, Lotfi B Merabet
In the setting of profound ocular blindness, numerous lines of evidence demonstrate the existence of dramatic anatomical and functional changes within the brain. However, previous studies based on a variety of distinct measures have often provided inconsistent findings. To help reconcile this issue, we used a multimodal magnetic resonance (MR)-based imaging approach to provide complementary structural and functional information regarding this neuroplastic reorganization. This included gray matter structural morphometry, high angular resolution diffusion imaging (HARDI) of white matter connectivity and integrity, and resting state functional connectivity MRI (rsfcMRI) analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#5
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28325638/clinically-significant-bleeding-with-low-dose-rivaroxaban-versus-aspirin-in-addition-to-p2y12-inhibition-in-acute-coronary-syndromes-gemini-acs-1-a-double-blind-multicentre-randomised-trial
#6
E Magnus Ohman, Matthew T Roe, P Gabriel Steg, Stefan K James, Thomas J Povsic, Jennifer White, Frank Rockhold, Alexei Plotnikov, Hardi Mundl, John Strony, Xiang Sun, Steen Husted, Michal Tendera, Gilles Montalescot, M Cecilia Bahit, Diego Ardissino, Héctor Bueno, Marc J Claeys, Jose C Nicolau, Jan H Cornel, Shinya Goto, Róbert Gábor Kiss, Ümit Güray, Duk-Woo Park, Christoph Bode, Robert C Welsh, C Michael Gibson
BACKGROUND: Dual antiplatelet therapy (DAPT), aspirin plus a P2Y12 inhibitor, is the standard antithrombotic treatment following acute coronary syndromes. The factor Xa inhibitor rivaroxaban reduced mortality and ischaemic events when added to DAPT, but caused increased bleeding. The safety of a dual pathway antithrombotic therapy approach combining low-dose rivaroxaban (in place of aspirin) with a P2Y12 inhibitor has not been assesssed in acute coronary syndromes. We aimed to assess rivaroxaban 2·5 mg twice daily versus aspirin 100 mg daily, in addition to clopidogrel or ticagrelor (chosen at investigator discretion before randomisation), for patients with acute coronary syndromes started within 10 days after presentation and continued for 6-12 months...
March 17, 2017: Lancet
https://www.readbyqxmd.com/read/28324051/androgen-stimulates-growth-of-mouse-preantral-follicles-in-vitro-interaction-with-follicle-stimulating-hormone-and-with-growth-factors-of-the-tgf%C3%AE-superfamily
#7
Mhairi Laird, Kacie Thomson, Mark Fenwick, Jocelyn Mora, Stephen Franks, Kate Hardy
Androgens are essential for the normal function of mature antral follicles but also have a role in the early stages of follicle development. Polycystic ovary syndrome (PCOS), the commonest cause of anovulatory infertility, is characterized by androgen excess and aberrant follicle development that includes accelerated early follicle growth. We have examined the effects of testosterone and dihydrotestosterone (DHT) on development of isolated mouse preantral follicles in culture with the specific aims of investigating interaction with FSH, the steroidogenic pathway and with growth factors of the TGFβ superfamily that are known to have a role in early follicle development...
January 24, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323885/towards-sustainable-sanitation-management-establishing-the-costs-and-willingness-to-pay-for-emptying-and-transporting-sludge-in-rural-districts-with-high-rates-of-access-to-latrines
#8
Soumya Balasubramanya, Barbara Evans, Richard Hardy, Rizwan Ahmed, Ahasan Habib, N S M Asad, Mominur Rahman, M Hasan, Digbijoy Dey, Louise Fletcher, Miller Alonso Camargo-Valero, Krishna Chaitanya Rao, Sudarshana Fernando
MOTIVATION: Proper management of fecal sludge has significant positive health and environmental externalities. Most research on managing onsite sanitation so far either simulates the costs of, or the welfare effects from, managing sludge in situ in pit latrines. Thus, designing management strategies for onsite rural sanitation is challenging, because the actual costs of transporting sludge for treatment, and sources for financing these transport costs, are not well understood. METHODS: In this paper we calculate the actual cost of sludge management from onsite latrines, and identify the contributions that latrine owners are willing to make to finance the costs...
2017: PloS One
https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#9
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28323456/stratosphere-conditions-inactivate-bacterial-endospores-from-a-mars-spacecraft-assembly-facility
#10
Christina L Khodadad, Gregory M Wong, Leandro M James, Prital J Thakrar, Michael A Lane, John A Catechis, David J Smith
Every spacecraft sent to Mars is allowed to land viable microbial bioburden, including hardy endospore-forming bacteria resistant to environmental extremes. Earth's stratosphere is severely cold, dry, irradiated, and oligotrophic; it can be used as a stand-in location for predicting how stowaway microbes might respond to the martian surface. We launched E-MIST, a high-altitude NASA balloon payload on 10 October 2015 carrying known quantities of viable Bacillus pumilus SAFR-032 (4.07 × 10(7) spores per sample), a radiation-tolerant strain collected from a spacecraft assembly facility...
March 21, 2017: Astrobiology
https://www.readbyqxmd.com/read/28319892/mitochondrial-hyperpolarization-in-ipsc-derived-neurons-from-patients-of-ftdp-17-with-10-16-mapt-mutation-leads-to-oxidative-stress-and-neurodegeneration
#11
Noemí Esteras, Jonathan D Rohrer, John Hardy, Selina Wray, Andrey Y Abramov
Tau protein inclusions are a frequent hallmark of a variety of neurodegenerative disorders. The 10+16 intronic mutation in MAPT gene, encoding tau, causes frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), by altering the splicing of the gene and inducing an increase in the production of 4R tau isoforms, which are more prone to aggregation. However, the molecular mechanisms linking increased 4R tau to neurodegeneration are not well understood. Here, we have used iPSC-derived neurons from patients of FTDP-17 carrying the 10+16 mutation to study the molecular mechanisms underlying neurodegeneration...
March 10, 2017: Redox Biology
https://www.readbyqxmd.com/read/28317936/priming-of-transcriptional-memory-responses-via-the-chromatin-accessibility-landscape-in-t-cells
#12
Wen Juan Tu, Kristine Hardy, Christopher R Sutton, Robert McCuaig, Jasmine Li, Jenny Dunn, Abel Tan, Vedran Brezar, Melanie Morris, Gareth Denyer, Sau Kuen Lee, Stephen J Turner, Nabila Seddiki, Corey Smith, Rajiv Khanna, Sudha Rao
Memory T cells exhibit transcriptional memory and "remember" their previous pathogenic encounter to increase transcription on re-infection. However, how this transcriptional priming response is regulated is unknown. Here we performed global FAIRE-seq profiling of chromatin accessibility in a human T cell transcriptional memory model. Primary activation induced persistent accessibility changes, and secondary activation induced secondary-specific opening of previously less accessible regions associated with enhanced expression of memory-responsive genes...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28315719/sequence-based-hla-a-b-c-dp-dq-and-dr-typing-of-100-luo-infants-from-the-boro-area-of-nyanza-province-kenya
#13
Cecilia S Lindestam Arlehamn, Richard Copin, Shay Leary, Steven J Mack, Elizabeth Phillips, Simon Mallal, Alessandro Sette, Gretta Blatner, Heather Siefers, Joel D Ernst
One hundred healthy infants enrolled as controls in a tuberculosis vaccine study in Nyanza Province, Kenya provided anonymized samples for DNA sequence-based typing at the HLA-A, -B, -C, -DPB1, -DQA1, -DQB1, -DRB1, and -DRB3/4/5 loci. The purpose of the study was to characterize allele frequencies in the local population, to support studies of T cell immunity against pathogens, including Mycobacterium tuberculosis. There are no detectable deviations from Hardy Weinberg proportions for the HLA-B, -C, -DRB1, -DPB1, -DQA1 and -DQB1 loci...
March 16, 2017: Human Immunology
https://www.readbyqxmd.com/read/28314933/major-genes-determining-yield-related-traits-in-wheat-and-barley
#14
REVIEW
Anna Nadolska-Orczyk, Izabela K Rajchel, Wacław Orczyk, Sebastian Gasparis
Current development of advanced biotechnology tools allows us to characterize the role of key genes in plant productivity. The implementation of this knowledge in breeding strategies might accelerate the progress in obtaining high-yielding cultivars. The achievements of the Green Revolution were based on a specific plant ideotype, determined by a single gene involved in gibberellin signaling or metabolism. Compared with the 1950s, an enormous increase in our knowledge about the biological basis of plant productivity has opened new avenues for novel breeding strategies...
March 17, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28304232/a-systematic-evaluation-of-intraoperative-white-matter-tract-shift-in-pediatric-epilepsy-surgery-using-high-field-mri-and-probabilistic-high-angular-resolution-diffusion-imaging-tractography
#15
Joseph Yuan-Mou Yang, Richard Beare, Marc L Seal, A Simon Harvey, Vicki A Anderson, Wirginia J Maixner
OBJECTIVE Characterization of intraoperative white matter tract (WMT) shift has the potential to compensate for neuronavigation inaccuracies using preoperative brain imaging. This study aimed to quantify and characterize intraoperative WMT shift from the global hemispheric to the regional tract-based scale and to investigate the impact of intraoperative factors (IOFs). METHODS High angular resolution diffusion imaging (HARDI) diffusion-weighted data were acquired over 5 consecutive perioperative time points (MR1 to MR5) in 16 epilepsy patients (8 male; mean age 9...
March 17, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28303994/association-of-il-6-c-174g-rs-1800795-single-nucleotide-polymorphism-with-type-2-diabetes-mellitus-in-pakistani-population
#16
Amina Nadeem, Sadaf Mumtaz, Abdul Khaliq Naveed, Qaiser Mansoor, Muhammad Aslam, Arif Siddiqui, Muhammad Ismail
OBJECTIVE: To determine the association of interleukin-6 C-174G single nucleotide polymorphism with type 2 diabetes mellitus and metabolic parameters. METHODS: This case-control study was conducted from June 2012 to December 2013 at the Military Hospital Rawalpindi, the Centre for Research in Experimental and Applied Medicine, Army Medical College, Rawalpindi, and the Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. Two cohorts of subjects were genotyped for the single nucleotide polymorphism...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28302415/a-prospective-study-to-assess-the-association-between-genotype-phenotype-and-prakriti-in-individuals-on-phenytoin-monotherapy
#17
Saket J Thaker, Prajakta P Gandhe, Charuta J Godbole, Shital R Bendkhale, Nitin B Mali, Urmila M Thatte, Nithya J Gogtay
BACKGROUND: Genetic polymorphisms in drug metabolizing enzymes (DMEs) impart distinct drug metabolizing capacity and a unique phenotype to an individual. Phenytoin has large inter-individual variability in metabolism due to polymorphisms in CYP2C9 and CYP2C19. As per Ayurveda, Prakriti imparts a unique phenotype to an individual. OBJECTIVE: To assess whether Prakriti can substitute phenotyping [therapeutic drug monitoring (TDM)] and genotyping in individualizing therapy with phenytoin in epilepsy patients...
March 14, 2017: Journal of Ayurveda and Integrative Medicine
https://www.readbyqxmd.com/read/28301670/mns-duffy-and-kell-blood-groups-among-the-uygur-population-of-xinjiang-china
#18
G Y Lin, X L Du, J J Shan, Y N Zhang, Y Q Zhang, Q H Wang
Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused on increasingly. However, rare blood groups such as MN, Duffy, Kidd, MNS, and Diego are largely unexplored. No systematic reports exist concerning the polymorphisms and allele frequencies of rare blood groups in China's ethnic minorities such as Uygur and Kazak populations of Xinjiang, unlike those on the Han population...
March 15, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28300467/association-of-cyp1a1-and-cyp1b1-polymorphisms-with-bone-mineral-density-variations-in-postmenopausal-mexican-mestizo-women
#19
Bertha Chávez, Felipe Vilchis, David Rojano-Mejía, Ramón Mauricio Coral Vázquez, María Del Carmen Aguirre-García, Patricia Canto
Herein, we investigated potential associations between polymorphisms of genes related to estrogen metabolism and bone mineral density (BMD) in postmenopausal women. This was a cross-sectional study, in which two hundred and ninety postmenopausal Mexican-Mestizo women were studied. The BMD of the lumbar spine (LS), total hip (TH), and femoral neck (FN) was measured. The distribution of the genetic polymorphisms, including rs1799814 and rs1048943 at CYP1A1 as well as rs1056836 at CYP1B1, were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single-stranded conformational polymorphism (SSCP), and DNA sequencing...
March 16, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28298836/transforming-growth-factor-%C3%AE-1-c509t-g800a-and-t869c-gene-polymorphisms-and-risk-of-ischemic-stroke-in-north-indian-population-a-hospital-based-case-control-study
#20
Pradeep Kumar, Shubham Misra, Amit Kumar, Mohammad Faruq, Sunil Shakya, Gyan Vardhan, Subiah Vivekanandhan, Achal Kumar Srivastava, Kameshwar Prasad
BACKGROUND: Transforming growth factor-beta 1 (TGF-β1) is a multifunctional pleiotropic cytokine involved in inflammation and pathogenesis of cerebrovascular diseases. There is limited information on the association between variations within the TGF-β1 gene polymorphisms and risk of ischemic stroke (IS). The aim of this study was to investigate the association of the TGF-β1 gene (C509T, G800A, and T869C) polymorphisms, and their haplotypes with the risk of IS in North Indian population...
January 2017: Annals of Indian Academy of Neurology
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