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https://www.readbyqxmd.com/read/27898055/increased-dna-methylation-variability-in-type-1-diabetes-across-three-immune-effector-cell-types
#1
Dirk S Paul, Andrew E Teschendorff, Mary A N Dang, Robert Lowe, Mohammed I Hawa, Simone Ecker, Huriya Beyan, Stephanie Cunningham, Alexandra R Fouts, Anita Ramelius, Frances Burden, Samantha Farrow, Sophia Rowlston, Karola Rehnstrom, Mattia Frontini, Kate Downes, Stephan Busche, Warren A Cheung, Bing Ge, Marie-Michelle Simon, David Bujold, Tony Kwan, Guillaume Bourque, Avik Datta, Ernesto Lowy, Laura Clarke, Paul Flicek, Emanuele Libertini, Simon Heath, Marta Gut, Ivo G Gut, Willem H Ouwehand, Tomi Pastinen, Nicole Soranzo, Sabine E Hofer, Beate Karges, Thomas Meissner, Bernhard O Boehm, Corrado Cilio, Helena Elding Larsson, Åke Lernmark, Andrea K Steck, Vardhman K Rakyan, Stephan Beck, R David Leslie
The incidence of type 1 diabetes (T1D) has substantially increased over the past decade, suggesting a role for non-genetic factors such as epigenetic mechanisms in disease development. Here we present an epigenome-wide association study across 406,365 CpGs in 52 monozygotic twin pairs discordant for T1D in three immune effector cell types. We observe a substantial enrichment of differentially variable CpG positions (DVPs) in T1D twins when compared with their healthy co-twins and when compared with healthy, unrelated individuals...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27882438/histochemical-examination-of-systemic-administration-of-eldecalcitol-combined-with-guided-bone-regeneration-for-bone-defect-restoration-in-rats
#2
Xiuchun Han, Juan Du, Di Liu, Hongrui Liu, Norio Amizuka, Minqi Li
The aim of this experiment was to elucidate the histological alterations after systemic administration of eldecalcitol (ELD) combined with guided bone regeneration during the restoration of bone defect healing in rats. The femurs of 8-week-old Wister rats were used to generate bone defect models. The defect was covered with a collagen membrane, and ELD group was administrated with eldecalcitol (50 ng/kg body weight) intragastrically once every other day. Femora were harvested at 1, 2, 4 and 8 weeks post-surgery...
November 23, 2016: Journal of Molecular Histology
https://www.readbyqxmd.com/read/27874043/correlation-analysis-of-the-mrna-and-mirna-expression-profiles-in-the-nascent-synthetic-allotetraploid-raphanobrassica
#3
Bingyuan Ye, Ruihua Wang, Jianbo Wang
Raphanobrassica is an allopolyploid species derived from inter-generic hybridization that combines the R genome from R. sativus and the C genome from B. oleracea var. alboglabra. In the present study, we used a high-throughput sequencing method to identify the mRNA and miRNA profiles in Raphanobrassica and its parents. A total of 33,561 mRNAs and 283 miRNAs were detected, 9,209 mRNAs and 134 miRNAs were differentially expressed respectively, 7,633 mRNAs and 39 miRNAs showed ELD expression, 5,219 mRNAs and 57 miRNAs were non-additively expressed in Raphanobrassica...
November 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27868392/cerebellar-gray-matter-differentiates-children-with-early-language-delay-in-autism
#4
Anila M D'Mello, Dorothea M Moore, Deana Crocetti, Stewart H Mostofsky, Catherine J Stoodley
Early language delay (ELD) is one of the earliest indicators of autism spectrum disorder (ASD), and predicts later cognitive and behavioral outcomes. We aimed to determine the neural correlates of ELD in autism, and examine the relationships between gray matter (GM), age of first word/phrase, and core ASD symptoms. We used voxel-based morphometry to examine whole-brain differences in GM in 8-13 year old children with autism (n = 13 ELD; n = 22 non-ELD) and 35 age-matched typically developing (TD) children...
November 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27867194/regulatory-activities-of-transposable-elements-from-conflicts-to-benefits
#5
Edward B Chuong, Nels C Elde, Cédric Feschotte
Transposable elements (TEs) are a prolific source of tightly regulated, biochemically active non-coding elements, such as transcription factor-binding sites and non-coding RNAs. Many recent studies reinvigorate the idea that these elements are pervasively co-opted for the regulation of host genes. We argue that the inherent genetic properties of TEs and the conflicting relationships with their hosts facilitate their recruitment for regulatory functions in diverse genomes. We review recent findings supporting the long-standing hypothesis that the waves of TE invasions endured by organisms for eons have catalysed the evolution of gene-regulatory networks...
November 21, 2016: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/27863252/the-allelic-landscape-of-human-blood-cell-trait-variation-and-links-to-common-complex-disease
#6
William J Astle, Heather Elding, Tao Jiang, Dave Allen, Dace Ruklisa, Alice L Mann, Daniel Mead, Heleen Bouman, Fernando Riveros-Mckay, Myrto A Kostadima, John J Lambourne, Suthesh Sivapalaratnam, Kate Downes, Kousik Kundu, Lorenzo Bomba, Kim Berentsen, John R Bradley, Louise C Daugherty, Olivier Delaneau, Kathleen Freson, Stephen F Garner, Luigi Grassi, Jose Guerrero, Matthias Haimel, Eva M Janssen-Megens, Anita Kaan, Mihir Kamat, Bowon Kim, Amit Mandoli, Jonathan Marchini, Joost H A Martens, Stuart Meacham, Karyn Megy, Jared O'Connell, Romina Petersen, Nilofar Sharifi, Simon M Sheard, James R Staley, Salih Tuna, Martijn van der Ent, Klaudia Walter, Shuang-Yin Wang, Eleanor Wheeler, Steven P Wilder, Valentina Iotchkova, Carmel Moore, Jennifer Sambrook, Hendrik G Stunnenberg, Emanuele Di Angelantonio, Stephen Kaptoge, Taco W Kuijpers, Enrique Carrillo-de-Santa-Pau, David Juan, Daniel Rico, Alfonso Valencia, Lu Chen, Bing Ge, Louella Vasquez, Tony Kwan, Diego Garrido-Martín, Stephen Watt, Ying Yang, Roderic Guigo, Stephan Beck, Dirk S Paul, Tomi Pastinen, David Bujold, Guillaume Bourque, Mattia Frontini, John Danesh, David J Roberts, Willem H Ouwehand, Adam S Butterworth, Nicole Soranzo
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each blood trait explained by the polygenic signal across different genome regulatory domains...
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27863251/genetic-drivers-of-epigenetic-and-transcriptional-variation-in-human-immune-cells
#7
Lu Chen, Bing Ge, Francesco Paolo Casale, Louella Vasquez, Tony Kwan, Diego Garrido-Martín, Stephen Watt, Ying Yan, Kousik Kundu, Simone Ecker, Avik Datta, David Richardson, Frances Burden, Daniel Mead, Alice L Mann, Jose Maria Fernandez, Sophia Rowlston, Steven P Wilder, Samantha Farrow, Xiaojian Shao, John J Lambourne, Adriana Redensek, Cornelis A Albers, Vyacheslav Amstislavskiy, Sofie Ashford, Kim Berentsen, Lorenzo Bomba, Guillaume Bourque, David Bujold, Stephan Busche, Maxime Caron, Shu-Huang Chen, Warren Cheung, Oliver Delaneau, Emmanouil T Dermitzakis, Heather Elding, Irina Colgiu, Frederik O Bagger, Paul Flicek, Ehsan Habibi, Valentina Iotchkova, Eva Janssen-Megens, Bowon Kim, Hans Lehrach, Ernesto Lowy, Amit Mandoli, Filomena Matarese, Matthew T Maurano, John A Morris, Vera Pancaldi, Farzin Pourfarzad, Karola Rehnstrom, Augusto Rendon, Thomas Risch, Nilofar Sharifi, Marie-Michelle Simon, Marc Sultan, Alfonso Valencia, Klaudia Walter, Shuang-Yin Wang, Mattia Frontini, Stylianos E Antonarakis, Laura Clarke, Marie-Laure Yaspo, Stephan Beck, Roderic Guigo, Daniel Rico, Joost H A Martens, Willem H Ouwehand, Taco W Kuijpers, Dirk S Paul, Hendrik G Stunnenberg, Oliver Stegle, Kate Downes, Tomi Pastinen, Nicole Soranzo
Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic profiling in three major human immune cell types (CD14(+) monocytes, CD16(+) neutrophils, and naive CD4(+) T cells) from up to 197 individuals. We assess, quantitatively, the relative contribution of cis-genetic and epigenetic factors to transcription and evaluate their impact as potential sources of confounding in epigenome-wide association studies...
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27782052/a-review-on-internet-of-things-for-defense-and-public-safety
#8
REVIEW
Paula Fraga-Lamas, Tiago M Fernández-Caramés, Manuel Suárez-Albela, Luis Castedo, Miguel González-López
The Internet of Things (IoT) is undeniably transforming the way that organizations communicate and organize everyday businesses and industrial procedures. Its adoption has proven well suited for sectors that manage a large number of assets and coordinate complex and distributed processes. This survey analyzes the great potential for applying IoT technologies (i.e., data-driven applications or embedded automation and intelligent adaptive systems) to revolutionize modern warfare and provide benefits similar to those in industry...
October 5, 2016: Sensors
https://www.readbyqxmd.com/read/27753963/os-10-02-effects-of-helicobacter-pylori-infection-on-atherosclerosis-with-hypertension-and-type-2-diabetes-mellitus-in-aged-population
#9
Zhendong Liu, Yingxin Zhao, Yuanli Dong, Biao Lu, Miaomiao Wei
OBJECTIVE: To explore the effects of Helicobacter pylori infection on atherosclerosis in patients with hypertension and type 2 diabetes mellitus (T2DM). DESIGN AND METHOD: 228 subjects (Mean age: 67.92 ± 7.51) were enrolled in this study. Whether or not did the patients infected with Hp by 14C-Urea Breath Test (14C-UBT). The participants were divided into infection-positive group and infection-negative group basing on the outcomes of 14C-UBT. Their Carotid-Radial pulse wave velocity(CrPWV) and Carotid intima media thickness(CIMT) were mornitored...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27740884/thyroid-and-islet-autoantibodies-predict-autoimmune-thyroid-disease-already-at-type-1-diabetes-diagnosis
#10
Berglind Jonsdottir, Christer Larsson, Annelie Carlsson, Gun Forsander, Sten Anders Ivarsson, Åke Lernmark, Johnny Ludvigsson, Claude Marcus, Ulf Samuelsson, Eva Örtqvist, Helena Elding Larsson
CONTEXT: Screening of autoimmune thyroid disease in children and young adults with Type 1 diabetes is important but vary greatly between clinics. OBJECTIVE: The aim was to determine the predictive value of thyroid autoantibodies, thyroid function, islet autoantibodies, and HLA- DQ at diagnosis of Type 1 diabetes for autoimmune thyroid disease during subsequent follow-up. SETTING: 43 Paediatric Endocrinology units Sweden. Design, patients and main outcome measures: At diagnosis of Type 1 diabetes, samples from 2433 children were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), glutamic acid decarboxylase (GADA), insulin (IAA), insulinoma-associated protein-2 (IA-2A), and the three variants of the zinc transporter 8 (ZnT8W/R/QA) as well as HLA-DQA1-B1 genotypes and thyroid function...
October 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27737813/the-association-between-histological-macroscopic-and-magnetic-resonance-imaging-assessed-synovitis-in-end-stage-knee-osteoarthritis-a-cross-sectional-study
#11
Robert Gabriel Coumine Riis, Henrik Gudbergsen, Ole Simonsen, Marius Henriksen, Nasir Al-Mashkur, Mikkel Eld, Kristian Kjær Petersen, Olga Kubassova, Anne C Bay Jensen, Janus Damm, Henning Bliddal, Lars Arendt-Nielsen, Mikael Ploug Boesen
OBJECTIVES: To investigate the association between MRI, macroscopic and histological assessments of synovitis in end-stage knee osteoarthritis (KOA). METHODS: Synovitis of end-stage osteoarthritic knees was assessed using non-contrast-enhanced (CE), CE-MRI and dynamic-CE (DCE)-MRI prior to total knee replacement and correlated with microscopic and macroscopic assessments of synovitis obtained intraoperatively. Multiple bivariate correlations were used with a pre-specified threshold of 0...
October 10, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/27668658/discovery-and-refinement-of-genetic-loci-associated-with-cardiometabolic-risk-using-dense-imputation-maps
#12
Valentina Iotchkova, Jie Huang, John A Morris, Deepti Jain, Caterina Barbieri, Klaudia Walter, Josine L Min, Lu Chen, William Astle, Massimilian Cocca, Patrick Deelen, Heather Elding, Aliki-Eleni Farmaki, Christopher S Franklin, Mattias Franberg, Tom R Gaunt, Albert Hofman, Tao Jiang, Marcus E Kleber, Genevieve Lachance, Jian'an Luan, Giovanni Malerba, Angela Matchan, Daniel Mead, Yasin Memari, Ioanna Ntalla, Kalliope Panoutsopoulou, Raha Pazoki, John R B Perry, Fernando Rivadeneira, Maria Sabater-Lleal, Bengt Sennblad, So-Youn Shin, Lorraine Southam, Michela Traglia, Freerk van Dijk, Elisabeth M van Leeuwen, Gianluigi Zaza, Weihua Zhang, Najaf Amin, Adam Butterworth, John C Chambers, George Dedoussis, Abbas Dehghan, Oscar H Franco, Lude Franke, Mattia Frontini, Giovanni Gambaro, Paolo Gasparini, Anders Hamsten, Aaron Issacs, Jaspal S Kooner, Charles Kooperberg, Claudia Langenberg, Winfried Marz, Robert A Scott, Morris A Swertz, Daniela Toniolo, Andre G Uitterlinden, Cornelia M van Duijn, Hugh Watkins, Eleftheria Zeggini, Mathew T Maurano, Nicholas J Timpson, Alexander P Reiner, Paul L Auer, Nicole Soranzo
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole-genome sequence data from the UK10K and 1000 Genomes Project into 35,981 study participants of European ancestry, followed by association analysis with 20 quantitative cardiometabolic and hematological traits. We describe 17 new associations, including 6 rare (minor allele frequency (MAF) < 1%) or low-frequency (1% < MAF < 5%) variants with platelet count (PLT), red blood cell indices (MCH and MCV) and HDL cholesterol...
September 26, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27666774/the-frequency-of-late-onset-pompe-disease-in-pediatric-patients-with-limb-girdle-muscle-weakness-and-nonspecific-hyperckemia-a-multicenter-study
#13
Olcay Ünver, Nilüfer Eldeş Hacıfazlıoğlu, Elif Karatoprak, Ayfer Sakarya Güneş, Güneş Sağer, Büşra Kutlubay, Gülhan Sözen, Sema Saltık, Kutluhan Yılmaz, Bülent Kara, Dilşad Türkdoğan
The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis...
September 6, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27643360/os-10-02-effects-of-helicobacter-pylori-infection-on-atherosclerosis-with-hypertension-and-type-2-diabetes-mellitus-in-aged-population
#14
Zhendong Liu, Yingxin Zhao, Yuanli Dong, Biao Lu, Miaomiao Wei
OBJECTIVE: To explore the effects of Helicobacter pylori infection on atherosclerosis in patients with hypertension and type 2 diabetes mellitus (T2DM). DESIGN AND METHOD: 228 subjects (Mean age: 67.92 ± 7.51) were enrolled in this study. Whether or not did the patients infected with Hp by 14C-Urea Breath Test (14C-UBT). The participants were divided into infection-positive group and infection-negative group basing on the outcomes of 14C-UBT. Their Carotid-Radial pulse wave velocity(CrPWV) and Carotid intima media thickness(CIMT) were mornitored...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27594157/genotyping-of-klebsiella-pneumonia-strains-isolated-from-eldly-inpatients-by-multiple-locus-variable-number-tandem-repeat-analysis
#15
Yuan-Yuan Zhang, Ya-Ping Xu, Peng-Cheng DU, Yu-Jun Qiang, Wen Zhang, Chen Chen, Ji-Hong Yu, Jun Guo
Objective To investigate the genotype of klebsiella pneumonia strains isolated from eldly inpatients by multiple-locus variable-number tandem-repeat analysis. Methods Totally 184 klebsiella pneumonia strains,isolated from eldly inpatients,were collected,and their genome DNA were extracted. The polymorphism of 7 variable-number tandem-repeat locus in the DNA samples was analyzed by multiple primers polymerase chain reaction and capillary electrophoresis. The clustering analysis of genotyping was carried out with the BioNumerics 5...
August 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/27573991/racial-ethnic-differences-in-caregiving-frequency-does-immigrant-status-matter
#16
Sunshine M Rote, Heehyul Moon
OBJECTIVES: With growing diversity in the older adult and caregiver populations, the purpose of the current study is to describe the extent to which elder care frequency varies by race/ethnicity and immigrant/native status using national data from the United States. METHOD: Using pooled data from the 2011-2014 American Time Use Surveys (ATUS; N = 7,855), we present multinomial logistic regressions of caregiving frequency by race/ethnicity and immigrant/native status and explore whether factors within the caregiving domain (duration of care, number of care recipients, and coresidence) attenuate any observed differences...
August 29, 2016: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/27550723/the-abuse-intervention-model-a-pragmatic-approach-to-intervention-for-elder-mistreatment
#17
Laura Mosqueda, Kerry Burnight, Melanie W Gironda, Alison A Moore, Jehni Robinson, Bonnie Olsen
Ten percent of older adults experience elder mistreatment, and it is much more common in older adults with dementia. It is associated with higher rates of psychological distress, hospitalization, and death and, in the United States, costs billions of dollars each year. Although elder mistreatment is relatively common and costly, it is estimated that fewer than 10% of instances of elder mistreatment are reported. Given these data, there is a great need for research on interventions to mitigate elder mistreatment and for a practical model or framework to use in approaching such interventions...
September 2016: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/27536673/management-of-membranous-nephropathy-in-western-countries
#18
REVIEW
Talal Alfaadhel, Daniel Cattran
BACKGROUND: Idiopathic membranous nephropathy (IMN) is a common cause of nephrotic syndrome (NS) in adults in Western countries. In 2012, the KDIGO (Kidney Disease: Improving Global Outcomes) working group published guidelines for the management of glomerulonephritis, thus providing a template for the treatment of this condition. While being aware of the impact of the clinicians' acumen and that patients may choose a different therapeutic option due to the risks of specific drugs and also of the evolving guidelines, this review details our approach to the management of patients with IMN in a Western center (Toronto)...
September 2015: Kidney Diseases
https://www.readbyqxmd.com/read/27530590/a-qualitative-exploration-of-voice-oriented-quality-of-life-in-iranian-patients-a-cultural-explanation
#19
Ali Dehqan, Fariba Yadegari, Ali Asgari, Ronald C Scherer, Peyman Dabirmoghadam
PURPOSE: The phrase "health-related quality of life" (HRQOL) refers to patients' perceptions of the influence of disease and treatment on their physical, psychological, and social function. Also, cultural aspects should be taken into account when evaluating quality of life and should be considered in related surveys.  In the current study, the most prominent voice-related QOL dimensions, including culture-based items in Iranian individuals was examined. METHODS: A convenience sample (n= 23) of adults was interviewed addressing voice related quality of life areas...
2016: Global Journal of Health Science
https://www.readbyqxmd.com/read/27506791/disruption-of-promoter-memory-by-synthesis-of-a-long-noncoding-rna
#20
Yaxin Yu, Robert M Yarrington, Edward B Chuong, Nels C Elde, David J Stillman
The yeast HO endonuclease is expressed in late G1 in haploid mother cells to initiate mating-type interconversion. Cells can be arrested in G1 by nutrient deprivation or by pheromone exposure, but cells that resume cycling after nutrient deprivation or cyclin-dependent kinase (CDK) inactivation express HO in the first cell cycle, whereas HO is not expressed until the second cycle after release from pheromone arrest. Here, we show that transcription of a long noncoding RNA (lncRNA) mediates this differential response...
August 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
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