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description Publicationkeyboard_double_arrow_right Article , Other literature type 2021 Denmark, Sweden, France, Netherlands, Denmark, Denmark, Sweden, United Kingdom, United Kingdom, FranceWiley NIH | Heart Failure Clinical Tr..., EC | inHForm, NIH | UCLA Clinical Translation... +10 projectsNIH| Heart Failure Clinical Trials Network ,EC| inHForm ,NIH| UCLA Clinical Translational Science Institute ,NIH| Renal Sympathetic Denervation in Congestive Heart Failure ,EC| BigData Heart ,NIH| Heart Failure Clinical Research Network Coordinating Center ,NIH| Genomics of Cardiac Arrhythmias ,NIH| SALsalate to Improve Exercise toleraNce and LVDD in T2dm-DHF (SALIENT-DHF trial) ,NIH| Heart Failure Clinical Research Network Regional Clinical Center (U10) ,NIH| Mayo Heart Failure Regional Clinical Center ,NIH| Harvard Regional Clinical Center of the NHLBI Heart Failure Network ,NIH| Mid Atlantic Heart Failure Network ,NIH| New England, New York and Quebec Regional Clinical CenterR. Thomas Lumbers; Sonia Shah; Honghuang Lin; Tomasz Czuba; Albert Henry; Daniel I. Swerdlow; Anders Mälarstig; Charlotte Andersson; Niek Verweij; Michael V. Holmes; Johan Ärnlöv; Per H. Svensson; Harry Hemingway; Neneh Sallah; Peter Almgren; Krishna G. Aragam; Géraldine Asselin; Joshua D. Backman; Mary L. Biggs; Heather L. Bloom; Eric Boersma; Jeffrey Brandimarto; Michael R. Brown; Hans-Peter Brunner-La Rocca; David J. Carey; Mark Chaffin; Daniel I. Chasman; Olympe Chazara; Xing Chen; Xu Chen; Jonathan H. Chung; William A. Chutkow; John G.F. Cleland; James P. Cook; Simon de Denus; Graciela E. Delgado; Spiros Denaxas; Alex S. F. Doney; Marcus Dörr; Samuel C. Dudley; Gunnar Engström; Ghazaleh Fatemifar; Chris Finan; Ian Ford; Francoise Fougerousse; René Fouodjio; Mohsen Ghanbari; Vilmantas Giedraitis; Franco Giulianini; John S. Gottdiener; Stefan Gross; Daníel F. Guðbjartsson; Hongsheng Gui; Rebecca Gutmann; Christopher M. Haggerty; Pim van der Harst; Åsa K. Hedman; Anna Helgadottir; Hans L. Hillege; Craig L. Hyde; Jaison Jacob; J. Wouter Jukema; Frederick K. Kamanu; Isabella Kardys; Maryam Kavousi; Kay-Tee Khaw; Marcus E. Kleber; Lars Køber; Andrea Koekemoer; Bill Kraus; Karoline Kuchenbaecker; Claudia Langenberg; Lars Lind; Cecilia M. Lindgren; Barry London; Luca A. Lotta; Ruth C. Lovering; Jian'an Luan; Patrik K. E. Magnusson; Anubha Mahajan; Douglas L. Mann; Kenneth B. Margulies; Nicholas A Marston; Winfried März; John J.V. McMurray; Olle Melander; Giorgio E. M. Melloni; Ify R. Mordi; Michael Morley; Andrew D. Morris; Andrew P. Morris; Alanna C. Morrison; Michael W. Nagle; Christopher P. Nelson; Christopher Newton-Cheh; Alexander Niessner; Teemu J. Niiranen; Christoph Nowak; Michelle L. O'Donoghue; Anjali T. Owens; Colin N. A. Palmer; Guillaume Paré; Markus Perola; Louis Philippe Lemieux Perreault; Eliana Portilla-Fernandez; Kenneth Rice; Paul M. Ridker; Simon P. R. Romaine; Carolina Roselli; Jerome I. Rotter; Christian T. Ruff; Marc S. Sabatine; Perttu Salo; Veikko Salomaa; Jessica van Setten; Alaa Shalaby; Diane T. Smelser; Nicholas L. Smith; Kari Stefansson; Steen Stender; David J. Stott; G Sveinbjörnsson; Mari Liis Tammesoo; Jean-Claude Tardif; Kent D. Taylor; Maris Teder-Laving; Alexander Teumer; Guðmundur Thorgeirsson; Unnur Thorsteinsdottir; Christian Torp-Pedersen; Stella Trompet; Danny Tuckwell; Benoit Tyl; André G. Uitterlinden; Felix Vaura; Abirami Veluchamy; Peter M. Visscher; Uwe Völker; Adriaan A. Voors; Xiaosong Wang; Nicholas J. Wareham; Peter Weeke; Raul Weiss; Kerri L. Wiggins; Heming Xing; Jian Yang; Yifan Yang; Laura M. Yerges-Armstrong; Bing Yu; Faiez Zannad; Faye Zhao; Jemma B. Wilk; Hilma Holm; Naveed Sattar; Steven A. Lubitz; David E. Lanfear; Svati H. Shah; Michael E. Dunn; Quinn S. Wells; Folkert W. Asselbergs; Aroon D. Hingorani; Marie-Pierre Dubé; Nilesh J. Samani; Chim C. Lang; Thomas P. Cappola; Patrick T. Ellinor; Ramachandran S. Vasan; J. Gustav Smith;Abstract: Aims: The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results: The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome‐wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow‐up following heart failure diagnosis ranged from 2 to 116 months. Forty‐nine of 51 individual studies enrolled participants of both sexes; in these studies, participants with heart failure were predominantly male (34–90%). The mean age at diagnosis or ascertainment across all studies ranged from 54 to 84 years. Based on the aggregate sample, we estimated 80% power to genetic variant associations with risk of heart failure with an odds ratio of ≥1.10 for common variants (allele frequency ≥ 0.05) and ≥1.20 for low‐frequency variants (allele frequency 0.01–0.05) at P < 5 × 10−8 under an additive genetic model. Conclusions: HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction. Funder: Department of Medicine, Boston University School of Medicine; Id: http://dx.doi.org/10.13039/100008748 Funder: National Heart, Lung, and Blood Institute; Id: http://dx.doi.org/10.13039/100000050 Funder: Knut and Alice Wallenberg Foundation; Id: http://dx.doi.org/10.13039/501100004063 Funder: NIHR UCLH Biomedical Research Centre; Id: http://dx.doi.org/10.13039/501100012317 Funder: Skåne University Hospital; Id: http://dx.doi.org/10.13039/501100011077 Funder: Evans Medical Foundation; Id: http://dx.doi.org/10.13039/100015927 Funder: Crafoord Foundation; Id: http://dx.doi.org/10.13039/501100003173 Funder: British Heart Foundation Cardiovascular Biomedicine Funder: Swedish National Health Service
NARCIS arrow_drop_down NARCIS; ESC Heart FailureArticle . 2021NARCIS; ESC Heart FailureArticle . 2021ESC Heart Failure; Aalborg University Research PortalArticle . 2021Copenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemLUMC Scholarly Publications; Leiden University Scholarly Publications Repository; NARCISOther literature type . Article . 2021License: CC BYVBN; Aalborg University Research PortalArticle . 2021NARCIS; ESC Heart FailureArticle . 2021add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu8 citations 8 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 3visibility views 3 download downloads 43 Powered bymore_vert NARCIS arrow_drop_down NARCIS; ESC Heart FailureArticle . 2021NARCIS; ESC Heart FailureArticle . 2021ESC Heart Failure; Aalborg University Research PortalArticle . 2021Copenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemLUMC Scholarly Publications; Leiden University Scholarly Publications Repository; NARCISOther literature type . Article . 2021License: CC BYVBN; Aalborg University Research PortalArticle . 2021NARCIS; ESC Heart FailureArticle . 2021add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2019 Spain, NetherlandsWiley NIH | Genetic predictors of met..., NIH | Epidemiology of Precursor..., NIH | THE FRAMINGHAM HEART STUD... +2 projectsNIH| Genetic predictors of metabolic responses to dairy ,NIH| Epidemiology of Precursors to Type 2 Diabetes ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,SFI| Dietary fatty acids: impact on inflammasome driven adipose inflammation and insulin resistance – novel therapeutic targets ,NIH| Rare Sequence Variation and Diabetes Quantitative TraitsAoife M. Murphy; Caren E. Smith; Leanne M Murphy; Jack L. Follis; Toshiko Tanaka; Kris Richardson; Raymond Noordam; Rozenn N. Lemaitre; Mika Kähönen; Josée Dupuis; Trudy Voortman; Eirini Marouli; Dennis O. Mook-Kanamori; Olli T. Raitakari; Jaeyoung Hong; Abbas Dehghan; George Dedoussis; Renée de Mutsert; Terho Lehtimäki; Ching-Ti Liu; Fernando Rivadeneira; Panagiotis Deloukas; Vera Mikkilä; James B. Meigs; André G. Uitterlinden; Mohammad Arfan Ikram; Oscar H. Franco; Maria Hughes; Peadar Ó Gaora; Jose M. Ordovas; Helen M. Roche;SCOPE: Insulin resistance (IR) and inflammation are hallmarks of type 2 diabetes (T2D). The nod-like receptor pyrin domain containing-3 (NLRP3) inflammasome is a metabolic sensor activated by saturated fatty acids (SFA) initiating IL-1β inflammation and IR. Interactions between SFA intake and NLRP3-related genetic variants may alter T2D risk factors. METHODS: Meta-analyses of six Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (n = 19 005) tested interactions between SFA and NLRP3-related single-nucleotide polymorphisms (SNPs) and modulation of fasting insulin, fasting glucose, and homeostasis model assessment of insulin resistance. RESULTS: SFA interacted with rs12143966, wherein each 1% increase in SFA intake increased insulin by 0.0063 IU mL-1 (SE ± 0.002, p = 0.001) per each major (G) allele copy. rs4925663, interacted with SFA (β ± SE = -0.0058 ± 0.002, p = 0.004) to increase insulin by 0.0058 IU mL-1 , per additional copy of the major (C) allele. Both associations are close to the significance threshold (p < 0.0001). rs4925663 causes a missense mutation affecting NLRP3 expression. CONCLUSION: Two NLRP3-related SNPs showed potential interaction with SFA to modulate fasting insulin. Greater dietary SFA intake accentuates T2D risk, which, subject to functional validation, may be further elaborated depending on NLRP3-related genetic variants. Sí
Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019License: CC BY NCData sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2019add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/mnfr.201900226&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019License: CC BY NCData sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2019add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/mnfr.201900226&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 CanadaFrontiers Media SA NIH | ARTFL LEFFTDS Longitudina..., CIHRNIH| ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) ,CIHRAuthors: Spyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; +16 AuthorsSpyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; Virginija Karrenbauer; Virginija Karrenbauer; David S. Lynch; Matthew Brennan; Samantha Zappia; Wolfgang Koehler; Ludger Schoels; Ludger Schoels; Stefanie N. Hayer; Stefanie N. Hayer; Takuya Konno; Takeshi Ikeuchi; Troy Lund; Jennifer Orthmann-Murphy; Florian Eichler; Zbigniew K. Wszolek;A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.3389/fneur.2021.788168&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu22 citations 22 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.3389/fneur.2021.788168&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 CanadaResearch Square Platform LLC Susan Hunter; Alison Divine; Humberto Omana; Edward Madou; Jeffrey Holmes;Abstract Background Balance and gait problems are common and progressive in dementia. Use of a mobility aid provides physical support and confidence. Yet, mobility aid use in people with dementia increases falls three-fold. An assessment tool of mobility aid safety in people with dementia does not currently exist. The objectives of this study were: 1) to develop a tool for the evaluation of physical function and safe use of a 4-wheeled walker in people with dementia, and 2) to evaluate its construct and criterion validity, inter-rater and test-retest reliability and minimal detectable change. Methods Healthcare professionals (HCP) experienced in rehabilitation of people with dementia participated in focus groups for item generation of the new tool, The Safe Use of Mobility Aid Checklist (SUMAC). The SUMAC evaluates physical function (PF) and safe use of the equipment (EQ) on nine tasks of daily life. Reliability was evaluated by HCP (n = 5) scored participant videos of people with dementia (n = 10) using a 4-wheeled walker performing the SUMAC. Inter-rater and test-retest reliability was assessed using intra-class correlation coefficients (ICC). Construct validity evaluated scores of the HCPs to a consensus HCP panel using Spearman’s rank-order correlations. Criterion validity evaluated SUMAC-PF to the Performance-Oriented Mobility Assessment (POMA) gait subscale using Spearman’s rank-order correlations. Results Three focus groups (n = 17) generated a tool comprised of nine tasks and the components within each task for physical function and safe use. Inter-rater reliability was statistically significant for SUMAC-PF (ICC = 0.92, 95%CI (0.81, 0.98), p < 0.001) and SUMAC-EQ. (ICC = 0.82, 95%CI (0.54, 0.95), p < 0.001). Test-retest reliability was statistically significant for SUMAC-PF (ICC = 0.89, 95%CI (0.81, 0.94), p < 0.001) and SUMAC-EQ. (ICC = 0.88, 95%CI (0.79, 0.93), p < 0.001). As hypothesized, the POMA gait subscale correlated strongly with the SUMAC-PF (rs = 0.84), but not EQ (rs = 0.39). Conclusions The focus groups and research team developed a tool of nine tasks with evaluation on physical function and safe use of a 4-wheeled walker for people with dementia. The SUMAC tool has demonstrated content validity for the whole scale and good construct and criterion validity for the SUMAC-PF and SUMAC-EQ. The subscores of the SUMAC demonstrated excellent to good inter-rater and test-retest reliability.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Average influence Average impulse Average Powered by BIP!visibility 2visibility views 2 download downloads 12 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.21203/rs.2.22127/v1&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaElsevier BV Aras Kayvanrad; Stephen R. Arnott; Nathan W. Churchill; Stefanie Hassel; Aditi Chemparathy; Fan Dong; Mojdeh Zamyadi; Tom Gee; Robert Bartha; Sandra E. Black; Jane M. Lawrence-Dewar; Christopher J.M. Scott; Sean P. Symons; Andrew D. Davis; Geoffrey B. Hall; Jacqueline K. Harris; Nancy J. Lobaugh; Glenda MacQueen; Cindy Woo; Stephen C. Strother;pmid: 34029737
Quality assurance (QA) is crucial in longitudinal and/or multi-site studies, which involve the collection of data from a group of subjects over time and/or at different locations. It is important to regularly monitor the performance of the scanners over time and at different locations to detect and control for intrinsic differences (e.g., due to manufacturers) and changes in scanner performance (e.g., due to gradual component aging, software and/or hardware upgrades, etc.). As part of the Ontario Neurodegenerative Disease Research Initiative (ONDRI) and the Canadian Biomarker Integration Network in Depression (CAN-BIND), QA phantom scans were conducted approximately monthly for three to four years at 13 sites across Canada with 3T research MRI scanners. QA parameters were calculated for each scan using the functional Biomarker Imaging Research Network's (fBIRN) QA phantom and pipeline to capture between- and within-scanner variability. We also describe a QA protocol to measure the full-width-at-half-maximum (FWHM) of slice-wise point spread functions (PSF), used in conjunction with the fBIRN QA parameters. Variations in image resolution measured by the FWHM are a primary source of variance over time for many sites, as well as between sites and between manufacturers. We also identify an unexpected range of instabilities affecting individual slices in a number of scanners, which may amount to a substantial contribution of unexplained signal variance to their data. Finally, we identify a preliminary preprocessing approach to reduce this variance and/or alleviate the slice anomalies, and in a small human data set show that this change in preprocessing can have a significant impact on seed-based connectivity measurements for some individual subjects. We expect that other fMRI centres will find this approach to identifying and controlling scanner instabilities useful in similar studies.
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For further information contact us at helpdesk@openaire.eu5 citations 5 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2011 NetherlandsBMJ Alexandra Zhernakova; Eli A. Stahl; Gosia Trynka; Soumya Raychaudhuri; E Festen; Lude Franke; Rudolf S N Fehrmann; Fina A S Kurreeman; Brian Thomson; Namrata Gupta; Jihane Romanos; Ross McManus; Anthony W. Ryan; Graham Turner; Elaine F. Remmers; Luigi Greco; René E. M. Toes; Elvira Grandone; Maria Cristina Mazzilli; Anna Rybak; Bożena Cukrowska; Yonghong Li; Paul I.W. de Bakker; Peter K. Gregersen; Jane Worthington; Katherine A. Siminovitch; Lars Klareskog; Tom W J Huizinga; Cisca Wijmenga; Robert M. Plenge;handle: 1887/116730
Background and objectives Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD) and rheumatoid arthritis (RA), but the extent of this sharing has not been systematically explored. Previous studies demonstrate that 6 of the established non-human leucocyte antigen (HLA) CD and RA risk loci (out of 26 loci for each disease) are shared between both diseases. The authors hypothesised that there are additional shared risk alleles, and that combining genome-wide association study (GWAS) data from each disease would increase power to identify these shared risk alleles. Materials and methods The authors performed a meta-analysis of two published GWAS on CD (4533 cases and 10 750 controls) and RA (5539 cases and 17 231 controls), and genotyping the top associated single-nucleotide polymorphisms (SNPs) in independent set of 2169 CD cases and 2255 controls, and 2845 RA cases and 4944 controls. The authors used the gene-expression dataset of peripheral blood mononuclear cell of 1469 individuals to investigate the genotype-expression correlation of associated variants. The authors also analysed the results using various pathway analysis tools. Results Above already established six shared loci, eight additional SNPs demonstrated p −8 in a combined analysis of all 50 266 samples. From the 14 shared gene loci, 7 SNPs showed a genome-wide significant effect on expression of one or more transcripts in the linkage disequilibrium block around the SNP. Pathway analysis tools indicate remarkable overrepresentation of T cell signalling molecules among the shared genes. Conclusions The authors identified 14 shared CD-RA risk loci. These associations implicate antigen presentation and T cell activation as a shared mechanism of disease pathogenesis and underscore the utility of cross-disease meta-analysis for identification of genetic risk factors with pleiotropic effects between two clinically distinct diseases.
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For further information contact us at helpdesk@openaire.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 Netherlands, United KingdomBMJ Kiltz, U.; van der Heijde, D.; Boonen, A.; Cieza, A.; Stucki, G.; Khan, M.A.; Maksymowych, W.P.; Marzo-Ortega, H.; Reveille, J.; Stebbings, S.; Bostan, C.; Braun, J.;Objectives The burden of disease in patients with ankylosing spondylitis (AS) can be considerable. However, no agreement has been reached among expert members of Assessment of SpondyloArthritis International Society (ASAS) to define severity of AS. Based on the International Classification of Functioning, Disability and Health (ICF), a core set of items for AS has been selected to represent the entire spectrum of possible problems in functioning. Based on this, the objective of this study was to develop a tool to quantify health in AS, the ASAS Health Index. Methods First, based on a literature search, experts’ and patients’ opinion, a large item pool covering the categories of the ICF core set was generated. In several steps this item pool was reduced based on reliability, Rasch analysis and consensus building after two cross-sectional surveys to come up with the best fitting items representing most categories of the ICF core set for AS. Results After the first survey with 1754 patients, the item pool of 251 items was reduced to 82. After selection by an expert committee, 50 items remained which were tested in a second cross-sectional survey. The results were used to reduce the number of items to a final set of 17 items. This selection showed the best reliability and fit to the Rasch model, no residual correlation, and absence of consistent differential item function and a Person Separation Index of 0.82. Conclusions In this long sequential study, 17 items which cover most of the ICF core set were identified that showed the best representation of the health status of patients with AS. The ASAS Health Index is a linear composite measure which differs from other measures in the public domain.
Europe PubMed Centra... arrow_drop_down NARCIS; Annals of the Rheumatic DiseasesArticle . 2015 . 2014LUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu162 citations 162 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!visibility 0visibility views 0 download downloads 51 Powered bymore_vert Europe PubMed Centra... arrow_drop_down NARCIS; Annals of the Rheumatic DiseasesArticle . 2015 . 2014LUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaSpringer Science and Business Media LLC Palma, David A.; Olson, Robert; Harrow, Stephen; Correa, Rohann J.M.; Schneiders, Famke; Haasbeek, Cornelis J.A.; Rodrigues, George B.; Lock, Michael; Yaremko, Brian P.; Bauman, Glenn S.; Ahmad, Belal; Schellenberg, Devin; Liu, Mitchell; Gaede, Stewart; Laba, Joanna; Mulroy, Liam; Senthi, Sashendra; Louie, Alexander V.; Swaminath, Anand; Chalmers, Anthony; Warner, Andrew; Slotman, Ben J.; de Gruijl, Tanja D.; Allan, Alison; Senan, Suresh;Background Stereotactic ablative radiotherapy (SABR) has emerged as a new treatment option for patients with oligometastatic disease. SABR delivers precise, high-dose, hypofractionated radiotherapy, and achieves excellent rates of local control for primary tumors or metastases. A recent randomized phase II trial evaluated SABR in a group of patients with a small burden of oligometastatic disease (mostly with 1–3 metastatic lesions), and found that SABR was associated with benefits in progression-free survival and overall survival. The goal of this phase III trial is to assess the impact of SABR in patients with 4–10 metastatic cancer lesions. Methods One hundred and fifty-nine patients will be randomized in a 1:2 ratio between the control arm (consisting of standard of care palliative-intent treatments), and the SABR arm (consisting of standard of care treatment + SABR to all sites of known disease). Randomization will be stratified by two factors: histology (Group 1: prostate, breast, or renal; Group 2: all others), and type of pre-specified systemic therapy (Group 1: immunotherapy/targeted; Group 2: cytotoxic; Group 3: observation). SABR is to be completed within 2 weeks, allowing for rapid initiation of systemic therapy. Recommended SABR doses are 20 Gy in 1 fraction, 30 Gy in 3 fractions, or 35 Gy in 5 fractions, chosen to minimize risks of toxicity. The primary endpoint is overall survival, and secondary endpoints include progression-free survival, time to development of new metastatic lesions, quality of life, and toxicity. Translational endpoints include assessment of circulating tumor cells, cell-free DNA, and tumor tissue as prognostic and predictive markers, including assessment of immunological predictors of response and long-term survival. Discussion This study will provide an assessment of the impact of SABR on clinical outcomes and quality of life, to determine if long-term survival can be achieved for selected patients with 4–10 oligometastatic lesions. Trial registration Clinicaltrials.gov identifier: NCT03721341. Date of registration: October 26, 2018. Electronic supplementary material The online version of this article (10.1186/s12885-019-5977-6) contains supplementary material, which is available to authorized users.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu169 citations 169 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 6 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Netherlands, Ireland, United Kingdom, ItalySpringer Science and Business Media LLC NIH | Characterizing Genetic Su..., NIH | Breast &Prostate Cancer &..., NIH | Breast &prostate cancer &... +6 projectsNIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer: The BPC3. ,NIH| Breast &Prostate Cancer &Hormone-related Gene Variants ,NIH| Breast &prostate cancer &hormone-related gene variants ,EC| COGS ,NIH| Genetic epidemiology of cell division regulation in breast cancer ,WT ,CIHR ,NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer;the BPC3 ,NIH| Discovery Expansion and ReplicationAuthors: Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; +207 AuthorsMontserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Loic Le Marchand; Julie E. Buring; Diana Eccles; Penelope Miron; Hiltrud Brauch; Jane Carpenter; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Elinor J. Sawyer; Antoinette Hollestelle; Olivia Fletcher; Hermann Brenner; Ute Hamann; Alfons Meindl; Peter Devillee; Mark S. Goldberg; Jan Lubinski; Vessela N. Kristensen; Anthony J. Swerdlow; Hoda Anton-Culver; Thilo Dörk; Kenneth Muir; Keitaro Matsuo; Anna H. Wu; Paolo Radice; Soo Hwang Teo; Xiao-Ou Shu; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen-Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Laura J. van't Veer; Emiel J. Th. Rutgers; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Arif B. Ekici; Matthias W. Beckmann; Isabel dos Santos Silva; Helen R. Warren; Michael J. Kerin; Nicola Miller; Federick Marme; Christof Sohn; Thérèse Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Magdalena Lochmann; Taru A. Muranen; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hiroji Iwata; Yasushi Yatabe; Natalia Antonenkova; Sara Margolin; Vesa Kataja; Veli-Matti Kosma; Jaana M. Hartikainen; Daniel O. Stram; Patrick Neven; Karin Leunen; Anja Rudolph; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Kristen N. Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Brian E. Henderson; Fredrick R. Schumacher; Natalia Bogdanova; Cheng Har Yip; Nur Aishah Taib; Ching-Yu Cheng; Martha J. Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Anna Marie Mulligan; R.A.E.M. Tollenaar; Caroline M. Seynaeve; Mieke Kriege; Ans M.W. van den Ouweland; Carolien H.M. van Deurzen; Wei Lu; Yu Tang Gao; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Lisa B. Signorello; Ching Wan Chan; Kee Seng Chia; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia-Ni Hsiung; Michael Jones; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Leslie Bernstein; Michael F. Press; Regina G. Ziegler; Robert M. Millikan; Sarah J. Nyante; Sue A. Ingles; Quinten Waisfisz; Helen Tsimiklis; Enes Makalic; Daniel F. Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kirsimari Aaltonen; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; André G. Uitterlinden; Fernando Rivadeneira; Robert Pilarski; Foluso O. Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Sebastian M. Jud; Thomas Brüning; JoEllen Weaver; Priyanka Sharma; Harsh B. Pathak; Sue Gerty; Lorraine Durcan; Dimitrios Trichopoulos; Rosario Tumino; Petra H.M. Peeters; Daniele Campa; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay-Tee Khaw; Laurence N. Kolonel; Constance Chen; Christine D. Berg; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; W. Ryan Diver; Walter C. Willett; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Georgia Chenevix-Trench; Stephen J. Chanock; Paul D.P. Pharoah; Celine M. Vachon; Douglas F. Easton; Christopher A. Haiman;Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu392 citations 392 popularity Top 1% influence Top 1% impulse Top 0.1% Powered by BIP!visibility 17visibility views 17 download downloads 132 Powered bymore_vert Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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description Publicationkeyboard_double_arrow_right Article , Other literature type 2021 Denmark, Sweden, France, Netherlands, Denmark, Denmark, Sweden, United Kingdom, United Kingdom, FranceWiley NIH | Heart Failure Clinical Tr..., EC | inHForm, NIH | UCLA Clinical Translation... +10 projectsNIH| Heart Failure Clinical Trials Network ,EC| inHForm ,NIH| UCLA Clinical Translational Science Institute ,NIH| Renal Sympathetic Denervation in Congestive Heart Failure ,EC| BigData Heart ,NIH| Heart Failure Clinical Research Network Coordinating Center ,NIH| Genomics of Cardiac Arrhythmias ,NIH| SALsalate to Improve Exercise toleraNce and LVDD in T2dm-DHF (SALIENT-DHF trial) ,NIH| Heart Failure Clinical Research Network Regional Clinical Center (U10) ,NIH| Mayo Heart Failure Regional Clinical Center ,NIH| Harvard Regional Clinical Center of the NHLBI Heart Failure Network ,NIH| Mid Atlantic Heart Failure Network ,NIH| New England, New York and Quebec Regional Clinical CenterR. Thomas Lumbers; Sonia Shah; Honghuang Lin; Tomasz Czuba; Albert Henry; Daniel I. Swerdlow; Anders Mälarstig; Charlotte Andersson; Niek Verweij; Michael V. Holmes; Johan Ärnlöv; Per H. Svensson; Harry Hemingway; Neneh Sallah; Peter Almgren; Krishna G. Aragam; Géraldine Asselin; Joshua D. Backman; Mary L. Biggs; Heather L. Bloom; Eric Boersma; Jeffrey Brandimarto; Michael R. Brown; Hans-Peter Brunner-La Rocca; David J. Carey; Mark Chaffin; Daniel I. Chasman; Olympe Chazara; Xing Chen; Xu Chen; Jonathan H. Chung; William A. Chutkow; John G.F. Cleland; James P. Cook; Simon de Denus; Graciela E. Delgado; Spiros Denaxas; Alex S. F. Doney; Marcus Dörr; Samuel C. Dudley; Gunnar Engström; Ghazaleh Fatemifar; Chris Finan; Ian Ford; Francoise Fougerousse; René Fouodjio; Mohsen Ghanbari; Vilmantas Giedraitis; Franco Giulianini; John S. Gottdiener; Stefan Gross; Daníel F. Guðbjartsson; Hongsheng Gui; Rebecca Gutmann; Christopher M. Haggerty; Pim van der Harst; Åsa K. Hedman; Anna Helgadottir; Hans L. Hillege; Craig L. Hyde; Jaison Jacob; J. Wouter Jukema; Frederick K. Kamanu; Isabella Kardys; Maryam Kavousi; Kay-Tee Khaw; Marcus E. Kleber; Lars Køber; Andrea Koekemoer; Bill Kraus; Karoline Kuchenbaecker; Claudia Langenberg; Lars Lind; Cecilia M. Lindgren; Barry London; Luca A. Lotta; Ruth C. Lovering; Jian'an Luan; Patrik K. E. Magnusson; Anubha Mahajan; Douglas L. Mann; Kenneth B. Margulies; Nicholas A Marston; Winfried März; John J.V. McMurray; Olle Melander; Giorgio E. M. Melloni; Ify R. Mordi; Michael Morley; Andrew D. Morris; Andrew P. Morris; Alanna C. Morrison; Michael W. Nagle; Christopher P. Nelson; Christopher Newton-Cheh; Alexander Niessner; Teemu J. Niiranen; Christoph Nowak; Michelle L. O'Donoghue; Anjali T. Owens; Colin N. A. Palmer; Guillaume Paré; Markus Perola; Louis Philippe Lemieux Perreault; Eliana Portilla-Fernandez; Kenneth Rice; Paul M. Ridker; Simon P. R. Romaine; Carolina Roselli; Jerome I. Rotter; Christian T. Ruff; Marc S. Sabatine; Perttu Salo; Veikko Salomaa; Jessica van Setten; Alaa Shalaby; Diane T. Smelser; Nicholas L. Smith; Kari Stefansson; Steen Stender; David J. Stott; G Sveinbjörnsson; Mari Liis Tammesoo; Jean-Claude Tardif; Kent D. Taylor; Maris Teder-Laving; Alexander Teumer; Guðmundur Thorgeirsson; Unnur Thorsteinsdottir; Christian Torp-Pedersen; Stella Trompet; Danny Tuckwell; Benoit Tyl; André G. Uitterlinden; Felix Vaura; Abirami Veluchamy; Peter M. Visscher; Uwe Völker; Adriaan A. Voors; Xiaosong Wang; Nicholas J. Wareham; Peter Weeke; Raul Weiss; Kerri L. Wiggins; Heming Xing; Jian Yang; Yifan Yang; Laura M. Yerges-Armstrong; Bing Yu; Faiez Zannad; Faye Zhao; Jemma B. Wilk; Hilma Holm; Naveed Sattar; Steven A. Lubitz; David E. Lanfear; Svati H. Shah; Michael E. Dunn; Quinn S. Wells; Folkert W. Asselbergs; Aroon D. Hingorani; Marie-Pierre Dubé; Nilesh J. Samani; Chim C. Lang; Thomas P. Cappola; Patrick T. Ellinor; Ramachandran S. Vasan; J. Gustav Smith;Abstract: Aims: The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results: The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome‐wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow‐up following heart failure diagnosis ranged from 2 to 116 months. Forty‐nine of 51 individual studies enrolled participants of both sexes; in these studies, participants with heart failure were predominantly male (34–90%). The mean age at diagnosis or ascertainment across all studies ranged from 54 to 84 years. Based on the aggregate sample, we estimated 80% power to genetic variant associations with risk of heart failure with an odds ratio of ≥1.10 for common variants (allele frequency ≥ 0.05) and ≥1.20 for low‐frequency variants (allele frequency 0.01–0.05) at P < 5 × 10−8 under an additive genetic model. Conclusions: HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction. Funder: Department of Medicine, Boston University School of Medicine; Id: http://dx.doi.org/10.13039/100008748 Funder: National Heart, Lung, and Blood Institute; Id: http://dx.doi.org/10.13039/100000050 Funder: Knut and Alice Wallenberg Foundation; Id: http://dx.doi.org/10.13039/501100004063 Funder: NIHR UCLH Biomedical Research Centre; Id: http://dx.doi.org/10.13039/501100012317 Funder: Skåne University Hospital; Id: http://dx.doi.org/10.13039/501100011077 Funder: Evans Medical Foundation; Id: http://dx.doi.org/10.13039/100015927 Funder: Crafoord Foundation; Id: http://dx.doi.org/10.13039/501100003173 Funder: British Heart Foundation Cardiovascular Biomedicine Funder: Swedish National Health Service
NARCIS arrow_drop_down NARCIS; ESC Heart FailureArticle . 2021NARCIS; ESC Heart FailureArticle . 2021ESC Heart Failure; Aalborg University Research PortalArticle . 2021Copenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemLUMC Scholarly Publications; Leiden University Scholarly Publications Repository; NARCISOther literature type . Article . 2021License: CC BYVBN; Aalborg University Research PortalArticle . 2021NARCIS; ESC Heart FailureArticle . 2021add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu8 citations 8 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 3visibility views 3 download downloads 43 Powered bymore_vert NARCIS arrow_drop_down NARCIS; ESC Heart FailureArticle . 2021NARCIS; ESC Heart FailureArticle . 2021ESC Heart Failure; Aalborg University Research PortalArticle . 2021Copenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemLUMC Scholarly Publications; Leiden University Scholarly Publications Repository; NARCISOther literature type . Article . 2021License: CC BYVBN; Aalborg University Research PortalArticle . 2021NARCIS; ESC Heart FailureArticle . 2021add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2019 Spain, NetherlandsWiley NIH | Genetic predictors of met..., NIH | Epidemiology of Precursor..., NIH | THE FRAMINGHAM HEART STUD... +2 projectsNIH| Genetic predictors of metabolic responses to dairy ,NIH| Epidemiology of Precursors to Type 2 Diabetes ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,SFI| Dietary fatty acids: impact on inflammasome driven adipose inflammation and insulin resistance – novel therapeutic targets ,NIH| Rare Sequence Variation and Diabetes Quantitative TraitsAoife M. Murphy; Caren E. Smith; Leanne M Murphy; Jack L. Follis; Toshiko Tanaka; Kris Richardson; Raymond Noordam; Rozenn N. Lemaitre; Mika Kähönen; Josée Dupuis; Trudy Voortman; Eirini Marouli; Dennis O. Mook-Kanamori; Olli T. Raitakari; Jaeyoung Hong; Abbas Dehghan; George Dedoussis; Renée de Mutsert; Terho Lehtimäki; Ching-Ti Liu; Fernando Rivadeneira; Panagiotis Deloukas; Vera Mikkilä; James B. Meigs; André G. Uitterlinden; Mohammad Arfan Ikram; Oscar H. Franco; Maria Hughes; Peadar Ó Gaora; Jose M. Ordovas; Helen M. Roche;SCOPE: Insulin resistance (IR) and inflammation are hallmarks of type 2 diabetes (T2D). The nod-like receptor pyrin domain containing-3 (NLRP3) inflammasome is a metabolic sensor activated by saturated fatty acids (SFA) initiating IL-1β inflammation and IR. Interactions between SFA intake and NLRP3-related genetic variants may alter T2D risk factors. METHODS: Meta-analyses of six Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (n = 19 005) tested interactions between SFA and NLRP3-related single-nucleotide polymorphisms (SNPs) and modulation of fasting insulin, fasting glucose, and homeostasis model assessment of insulin resistance. RESULTS: SFA interacted with rs12143966, wherein each 1% increase in SFA intake increased insulin by 0.0063 IU mL-1 (SE ± 0.002, p = 0.001) per each major (G) allele copy. rs4925663, interacted with SFA (β ± SE = -0.0058 ± 0.002, p = 0.004) to increase insulin by 0.0058 IU mL-1 , per additional copy of the major (C) allele. Both associations are close to the significance threshold (p < 0.0001). rs4925663 causes a missense mutation affecting NLRP3 expression. CONCLUSION: Two NLRP3-related SNPs showed potential interaction with SFA to modulate fasting insulin. Greater dietary SFA intake accentuates T2D risk, which, subject to functional validation, may be further elaborated depending on NLRP3-related genetic variants. Sí
Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019License: CC BY NCData sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2019add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Recolector de Cienci... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019License: CC BY NCData sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2019add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 CanadaFrontiers Media SA NIH | ARTFL LEFFTDS Longitudina..., CIHRNIH| ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) ,CIHRAuthors: Spyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; +16 AuthorsSpyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; Virginija Karrenbauer; Virginija Karrenbauer; David S. Lynch; Matthew Brennan; Samantha Zappia; Wolfgang Koehler; Ludger Schoels; Ludger Schoels; Stefanie N. Hayer; Stefanie N. Hayer; Takuya Konno; Takeshi Ikeuchi; Troy Lund; Jennifer Orthmann-Murphy; Florian Eichler; Zbigniew K. Wszolek;A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
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For further information contact us at helpdesk@openaire.eu22 citations 22 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 CanadaResearch Square Platform LLC Susan Hunter; Alison Divine; Humberto Omana; Edward Madou; Jeffrey Holmes;Abstract Background Balance and gait problems are common and progressive in dementia. Use of a mobility aid provides physical support and confidence. Yet, mobility aid use in people with dementia increases falls three-fold. An assessment tool of mobility aid safety in people with dementia does not currently exist. The objectives of this study were: 1) to develop a tool for the evaluation of physical function and safe use of a 4-wheeled walker in people with dementia, and 2) to evaluate its construct and criterion validity, inter-rater and test-retest reliability and minimal detectable change. Methods Healthcare professionals (HCP) experienced in rehabilitation of people with dementia participated in focus groups for item generation of the new tool, The Safe Use of Mobility Aid Checklist (SUMAC). The SUMAC evaluates physical function (PF) and safe use of the equipment (EQ) on nine tasks of daily life. Reliability was evaluated by HCP (n = 5) scored participant videos of people with dementia (n = 10) using a 4-wheeled walker performing the SUMAC. Inter-rater and test-retest reliability was assessed using intra-class correlation coefficients (ICC). Construct validity evaluated scores of the HCPs to a consensus HCP panel using Spearman’s rank-order correlations. Criterion validity evaluated SUMAC-PF to the Performance-Oriented Mobility Assessment (POMA) gait subscale using Spearman’s rank-order correlations. Results Three focus groups (n = 17) generated a tool comprised of nine tasks and the components within each task for physical function and safe use. Inter-rater reliability was statistically significant for SUMAC-PF (ICC = 0.92, 95%CI (0.81, 0.98), p < 0.001) and SUMAC-EQ. (ICC = 0.82, 95%CI (0.54, 0.95), p < 0.001). Test-retest reliability was statistically significant for SUMAC-PF (ICC = 0.89, 95%CI (0.81, 0.94), p < 0.001) and SUMAC-EQ. (ICC = 0.88, 95%CI (0.79, 0.93), p < 0.001). As hypothesized, the POMA gait subscale correlated strongly with the SUMAC-PF (rs = 0.84), but not EQ (rs = 0.39). Conclusions The focus groups and research team developed a tool of nine tasks with evaluation on physical function and safe use of a 4-wheeled walker for people with dementia. The SUMAC tool has demonstrated content validity for the whole scale and good construct and criterion validity for the SUMAC-PF and SUMAC-EQ. The subscores of the SUMAC demonstrated excellent to good inter-rater and test-retest reliability.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Average influence Average impulse Average Powered by BIP!visibility 2visibility views 2 download downloads 12 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaElsevier BV Aras Kayvanrad; Stephen R. Arnott; Nathan W. Churchill; Stefanie Hassel; Aditi Chemparathy; Fan Dong; Mojdeh Zamyadi; Tom Gee; Robert Bartha; Sandra E. Black; Jane M. Lawrence-Dewar; Christopher J.M. Scott; Sean P. Symons; Andrew D. Davis; Geoffrey B. Hall; Jacqueline K. Harris; Nancy J. Lobaugh; Glenda MacQueen; Cindy Woo; Stephen C. Strother;pmid: 34029737
Quality assurance (QA) is crucial in longitudinal and/or multi-site studies, which involve the collection of data from a group of subjects over time and/or at different locations. It is important to regularly monitor the performance of the scanners over time and at different locations to detect and control for intrinsic differences (e.g., due to manufacturers) and changes in scanner performance (e.g., due to gradual component aging, software and/or hardware upgrades, etc.). As part of the Ontario Neurodegenerative Disease Research Initiative (ONDRI) and the Canadian Biomarker Integration Network in Depression (CAN-BIND), QA phantom scans were conducted approximately monthly for three to four years at 13 sites across Canada with 3T research MRI scanners. QA parameters were calculated for each scan using the functional Biomarker Imaging Research Network's (fBIRN) QA phantom and pipeline to capture between- and within-scanner variability. We also describe a QA protocol to measure the full-width-at-half-maximum (FWHM) of slice-wise point spread functions (PSF), used in conjunction with the fBIRN QA parameters. Variations in image resolution measured by the FWHM are a primary source of variance over time for many sites, as well as between sites and between manufacturers. We also identify an unexpected range of instabilities affecting individual slices in a number of scanners, which may amount to a substantial contribution of unexplained signal variance to their data. Finally, we identify a preliminary preprocessing approach to reduce this variance and/or alleviate the slice anomalies, and in a small human data set show that this change in preprocessing can have a significant impact on seed-based connectivity measurements for some individual subjects. We expect that other fMRI centres will find this approach to identifying and controlling scanner instabilities useful in similar studies.
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For further information contact us at helpdesk@openaire.eu5 citations 5 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2011 NetherlandsBMJ Alexandra Zhernakova; Eli A. Stahl; Gosia Trynka; Soumya Raychaudhuri; E Festen; Lude Franke; Rudolf S N Fehrmann; Fina A S Kurreeman; Brian Thomson; Namrata Gupta; Jihane Romanos; Ross McManus; Anthony W. Ryan; Graham Turner; Elaine F. Remmers; Luigi Greco; René E. M. Toes; Elvira Grandone; Maria Cristina Mazzilli; Anna Rybak; Bożena Cukrowska; Yonghong Li; Paul I.W. de Bakker; Peter K. Gregersen; Jane Worthington; Katherine A. Siminovitch; Lars Klareskog; Tom W J Huizinga; Cisca Wijmenga; Robert M. Plenge;handle: 1887/116730
Background and objectives Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD) and rheumatoid arthritis (RA), but the extent of this sharing has not been systematically explored. Previous studies demonstrate that 6 of the established non-human leucocyte antigen (HLA) CD and RA risk loci (out of 26 loci for each disease) are shared between both diseases. The authors hypothesised that there are additional shared risk alleles, and that combining genome-wide association study (GWAS) data from each disease would increase power to identify these shared risk alleles. Materials and methods The authors performed a meta-analysis of two published GWAS on CD (4533 cases and 10 750 controls) and RA (5539 cases and 17 231 controls), and genotyping the top associated single-nucleotide polymorphisms (SNPs) in independent set of 2169 CD cases and 2255 controls, and 2845 RA cases and 4944 controls. The authors used the gene-expression dataset of peripheral blood mononuclear cell of 1469 individuals to investigate the genotype-expression correlation of associated variants. The authors also analysed the results using various pathway analysis tools. Results Above already established six shared loci, eight additional SNPs demonstrated p −8 in a combined analysis of all 50 266 samples. From the 14 shared gene loci, 7 SNPs showed a genome-wide significant effect on expression of one or more transcripts in the linkage disequilibrium block around the SNP. Pathway analysis tools indicate remarkable overrepresentation of T cell signalling molecules among the shared genes. Conclusions The authors identified 14 shared CD-RA risk loci. These associations implicate antigen presentation and T cell activation as a shared mechanism of disease pathogenesis and underscore the utility of cross-disease meta-analysis for identification of genetic risk factors with pleiotropic effects between two clinically distinct diseases.
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For further information contact us at helpdesk@openaire.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 Netherlands, United KingdomBMJ Kiltz, U.; van der Heijde, D.; Boonen, A.; Cieza, A.; Stucki, G.; Khan, M.A.; Maksymowych, W.P.; Marzo-Ortega, H.; Reveille, J.; Stebbings, S.; Bostan, C.; Braun, J.;Objectives The burden of disease in patients with ankylosing spondylitis (AS) can be considerable. However, no agreement has been reached among expert members of Assessment of SpondyloArthritis International Society (ASAS) to define severity of AS. Based on the International Classification of Functioning, Disability and Health (ICF), a core set of items for AS has been selected to represent the entire spectrum of possible problems in functioning. Based on this, the objective of this study was to develop a tool to quantify health in AS, the ASAS Health Index. Methods First, based on a literature search, experts’ and patients’ opinion, a large item pool covering the categories of the ICF core set was generated. In several steps this item pool was reduced based on reliability, Rasch analysis and consensus building after two cross-sectional surveys to come up with the best fitting items representing most categories of the ICF core set for AS. Results After the first survey with 1754 patients, the item pool of 251 items was reduced to 82. After selection by an expert committee, 50 items remained which were tested in a second cross-sectional survey. The results were used to reduce the number of items to a final set of 17 items. This selection showed the best reliability and fit to the Rasch model, no residual correlation, and absence of consistent differential item function and a Person Separation Index of 0.82. Conclusions In this long sequential study, 17 items which cover most of the ICF core set were identified that showed the best representation of the health status of patients with AS. The ASAS Health Index is a linear composite measure which differs from other measures in the public domain.
Europe PubMed Centra... arrow_drop_down NARCIS; Annals of the Rheumatic DiseasesArticle . 2015 . 2014LUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu162 citations 162 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!visibility 0visibility views 0 download downloads 51 Powered bymore_vert Europe PubMed Centra... arrow_drop_down NARCIS; Annals of the Rheumatic DiseasesArticle . 2015 . 2014LUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaSpringer Science and Business Media LLC Palma, David A.; Olson, Robert; Harrow, Stephen; Correa, Rohann J.M.; Schneiders, Famke; Haasbeek, Cornelis J.A.; Rodrigues, George B.; Lock, Michael; Yaremko, Brian P.; Bauman, Glenn S.; Ahmad, Belal; Schellenberg, Devin; Liu, Mitchell; Gaede, Stewart; Laba, Joanna; Mulroy, Liam; Senthi, Sashendra; Louie, Alexander V.; Swaminath, Anand; Chalmers, Anthony; Warner, Andrew; Slotman, Ben J.; de Gruijl, Tanja D.; Allan, Alison; Senan, Suresh;Background Stereotactic ablative radiotherapy (SABR) has emerged as a new treatment option for patients with oligometastatic disease. SABR delivers precise, high-dose, hypofractionated radiotherapy, and achieves excellent rates of local control for primary tumors or metastases. A recent randomized phase II trial evaluated SABR in a group of patients with a small burden of oligometastatic disease (mostly with 1–3 metastatic lesions), and found that SABR was associated with benefits in progression-free survival and overall survival. The goal of this phase III trial is to assess the impact of SABR in patients with 4–10 metastatic cancer lesions. Methods One hundred and fifty-nine patients will be randomized in a 1:2 ratio between the control arm (consisting of standard of care palliative-intent treatments), and the SABR arm (consisting of standard of care treatment + SABR to all sites of known disease). Randomization will be stratified by two factors: histology (Group 1: prostate, breast, or renal; Group 2: all others), and type of pre-specified systemic therapy (Group 1: immunotherapy/targeted; Group 2: cytotoxic; Group 3: observation). SABR is to be completed within 2 weeks, allowing for rapid initiation of systemic therapy. Recommended SABR doses are 20 Gy in 1 fraction, 30 Gy in 3 fractions, or 35 Gy in 5 fractions, chosen to minimize risks of toxicity. The primary endpoint is overall survival, and secondary endpoints include progression-free survival, time to development of new metastatic lesions, quality of life, and toxicity. Translational endpoints include assessment of circulating tumor cells, cell-free DNA, and tumor tissue as prognostic and predictive markers, including assessment of immunological predictors of response and long-term survival. Discussion This study will provide an assessment of the impact of SABR on clinical outcomes and quality of life, to determine if long-term survival can be achieved for selected patients with 4–10 oligometastatic lesions. Trial registration Clinicaltrials.gov identifier: NCT03721341. Date of registration: October 26, 2018. Electronic supplementary material The online version of this article (10.1186/s12885-019-5977-6) contains supplementary material, which is available to authorized users.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu169 citations 169 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 6 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
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For further information contact us at helpdesk@openaire.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Netherlands, Ireland, United Kingdom, ItalySpringer Science and Business Media LLC NIH | Characterizing Genetic Su..., NIH | Breast &Prostate Cancer &..., NIH | Breast &prostate cancer &... +6 projectsNIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer: The BPC3. ,NIH| Breast &Prostate Cancer &Hormone-related Gene Variants ,NIH| Breast &prostate cancer &hormone-related gene variants ,EC| COGS ,NIH| Genetic epidemiology of cell division regulation in breast cancer ,WT ,CIHR ,NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer;the BPC3 ,NIH| Discovery Expansion and ReplicationAuthors: Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; +207 AuthorsMontserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Loic Le Marchand; Julie E. Buring; Diana Eccles; Penelope Miron; Hiltrud Brauch; Jane Carpenter; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Elinor J. Sawyer; Antoinette Hollestelle; Olivia Fletcher; Hermann Brenner; Ute Hamann; Alfons Meindl; Peter Devillee; Mark S. Goldberg; Jan Lubinski; Vessela N. Kristensen; Anthony J. Swerdlow; Hoda Anton-Culver; Thilo Dörk; Kenneth Muir; Keitaro Matsuo; Anna H. Wu; Paolo Radice; Soo Hwang Teo; Xiao-Ou Shu; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen-Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Laura J. van't Veer; Emiel J. Th. Rutgers; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Arif B. Ekici; Matthias W. Beckmann; Isabel dos Santos Silva; Helen R. Warren; Michael J. Kerin; Nicola Miller; Federick Marme; Christof Sohn; Thérèse Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Magdalena Lochmann; Taru A. Muranen; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hiroji Iwata; Yasushi Yatabe; Natalia Antonenkova; Sara Margolin; Vesa Kataja; Veli-Matti Kosma; Jaana M. Hartikainen; Daniel O. Stram; Patrick Neven; Karin Leunen; Anja Rudolph; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Kristen N. Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Brian E. Henderson; Fredrick R. Schumacher; Natalia Bogdanova; Cheng Har Yip; Nur Aishah Taib; Ching-Yu Cheng; Martha J. Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Anna Marie Mulligan; R.A.E.M. Tollenaar; Caroline M. Seynaeve; Mieke Kriege; Ans M.W. van den Ouweland; Carolien H.M. van Deurzen; Wei Lu; Yu Tang Gao; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Lisa B. Signorello; Ching Wan Chan; Kee Seng Chia; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia-Ni Hsiung; Michael Jones; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Leslie Bernstein; Michael F. Press; Regina G. Ziegler; Robert M. Millikan; Sarah J. Nyante; Sue A. Ingles; Quinten Waisfisz; Helen Tsimiklis; Enes Makalic; Daniel F. Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kirsimari Aaltonen; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; André G. Uitterlinden; Fernando Rivadeneira; Robert Pilarski; Foluso O. Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Sebastian M. Jud; Thomas Brüning; JoEllen Weaver; Priyanka Sharma; Harsh B. Pathak; Sue Gerty; Lorraine Durcan; Dimitrios Trichopoulos; Rosario Tumino; Petra H.M. Peeters; Daniele Campa; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay-Tee Khaw; Laurence N. Kolonel; Constance Chen; Christine D. Berg; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; W. Ryan Diver; Walter C. Willett; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Georgia Chenevix-Trench; Stephen J. Chanock; Paul D.P. Pharoah; Celine M. Vachon; Douglas F. Easton; Christopher A. Haiman;Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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