Loading
description Publicationkeyboard_double_arrow_right Article 2021 Italy, Canada, Italy, Denmark, FranceOvid Technologies (Wolters Kluwer Health) NIH | Institutional Clinical an..., NIH | Channelopathy-Associated ..., NIH | The Intellectual and Deve... +2 projectsNIH| Institutional Clinical and Translational Science Award ,NIH| Channelopathy-Associated Epilepsy Research Center ,NIH| The Intellectual and Developmental Disabilities Research Center at CHOP/Penn ,NIH| Joint analysis of genomic and electronic medical record data to assess outcomes and drug response in pediatric epilepsies ,NHMRC| Melanoma diagnosis, and the effect of screening on depth of invasion of melanoma.Johannesen K. M.; Gardella E.; Gjerulfsen C. E.; Bayat A.; Rouhl R. P. W.; Reijnders M.; Whalen S.; Keren B.; Buratti J.; Courtin T.; Wierenga K. J.; Isidor B.; Piton A.; Faivre L.; Garde A.; Moutton S.; Tran-Mau-Them F.; Denomme-Pichon A. -S.; Coubes C.; Larson A.; Esser M. J.; Appendino J. P.; Al-Hertani W.; Gamboni B.; Mampel A.; Mayorga L.; Orsini A.; Bonuccelli A.; Suppiej A.; Van-Gils J.; Vogt J.; Damioli S.; Giordano L.; Moortgat S.; Wirrell E.; Hicks S.; Kini U.; Noble N.; Stewart H.; Asakar S.; Cohen J. S.; Naidu S. R.; Collier A.; Brilstra E. H.; Li M. H.; Brew C.; Bigoni S.; Ognibene D.; Ballardini E.; Ruivenkamp C.; Faggioli R.; Afenjar A.; Rodriguez D.; Bick D.; Segal D.; Coman D.; Gunning B.; Devinsky O.; Demmer L. A.; Grebe T.; Pruna D.; Cursio I.; Greenhalgh L.; Graziano C.; Singh R. R.; Cantalupo G.; Willems M.; Yoganathan S.; Goes F.; Leventer R. J.; Colavito D.; Olivotto S.; Scelsa B.; Andrade A. V.; Ratke K.; Tokarz F.; Khan A. S.; Ormieres C.; Benko W.; Keough K.; Keros S.; Hussain S.; Franques A.; Varsalone F.; Gronborg S.; Mignot C.; Heron D.; Nava C.; Isapof A.; Borlot F.; Whitney R.; Ronan A.; Foulds N.; Somorai M.; Brandsema J.; Helbig K. L.; Helbig I.; Ortiz-Gonzalez X. R.; Dubbs H.; Vitobello A.; Anderson M.; Spadafore D.; Hunt D.; Moller R. S.; Rubboli G.;handle: 11562/1063816 , 11392/2475339
International audience; Background and Objectives Purine-rich element-binding protein A ( PURA ) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients. Methods Data on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained. Results A cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations. Discussion The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.
Archivio istituziona... arrow_drop_down IRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di VeronaUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research OutputIRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di Veronaadd 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=10.1212/nxg.0000000000000613&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4 citations 4 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert Archivio istituziona... arrow_drop_down IRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di VeronaUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research OutputIRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di Veronaadd 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=10.1212/nxg.0000000000000613&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2009 United Kingdom, Italy, Canada, Germany, DenmarkPublic Library of Science (PLoS) NIH | CANDIDATE GENE STUDIES OF..., WT, NIH | Genetics of cardiovascula... +1 projectsNIH| CANDIDATE GENE STUDIES OF OBESITY GUIDED BY WHOLE GENOME ASSOCIATION DATA ,WT ,NIH| Genetics of cardiovascular risk factors in large founder population birth control ,EC| ENGAGEIris M. Heid; Cornelia Huth; Ruth J. F. Loos; Florian Kronenberg; Vera Adamkova; Sonia S. Anand; Kristin G. Ardlie; Heike Biebermann; Peter Bjerregaard; Heiner Boeing; Claude Bouchard; Marina Ciullo; Jackie A. Cooper; Dolores Corella; Christian Dina; James C. Engert; Eva Fisher; Francesc Francés; Philippe Froguel; Johannes Hebebrand; Robert A. Hegele; Anke Hinney; Margret R. Hoehe; Frank B. Hu; Jaroslav A. Hubacek; Steve E. Humphries; Steven C. Hunt; Thomas Illig; M. R. Järvelin; Marika Kaakinen; Barbara Kollerits; Heiko Krude; Jitender Kumar; Leslie A. Lange; Birgit Langer; Shengxu Li; Andreas Luchner; Helen N. Lyon; David Meyre; Karen L. Mohlke; Vincent Mooser; Almut Nebel; Thuy Trang Nguyen; Bernhard Paulweber; Louis Pérusse; Lu Qi; Tuomo Rankinen; Dieter Rosskopf; Stefan Schreiber; Shantanu Sengupta; Rossella Sorice; Anita Suk; Gudmar Thorleifsson; Unnur Thorsteinsdottir; Henry Völzke; Karani Santhanakrishnan Vimaleswaran; Nicholas J. Wareham; Dawn M. Waterworth; Salim Yusuf; Cecilia M. Lindgren; Mark I. McCarthy; Christoph Lange; Joel N. Hirschhorn; Nan M. Laird; H-Erich Wichmann;The INSIG2 rs7566605 polymorphism was identified for obesity (BMI≥30 kg/m2) in one of the first genome-wide association studies, but replications were inconsistent. We collected statistics from 34 studies (n = 74,345), including general population (GP) studies, population-based studies with subjects selected for conditions related to a better health status (‘healthy population’, HP), and obesity studies (OB). We tested five hypotheses to explore potential sources of heterogeneity. The meta-analysis of 27 studies on Caucasian adults (n = 66,213) combining the different study designs did not support overall association of the CC-genotype with obesity, yielding an odds ratio (OR) of 1.05 (p-value = 0.27). The I2 measure of 41% (p-value = 0.015) indicated between-study heterogeneity. Restricting to GP studies resulted in a declined I2 measure of 11% (p-value = 0.33) and an OR of 1.10 (p-value = 0.015). Regarding the five hypotheses, our data showed (a) some difference between GP and HP studies (p-value = 0.012) and (b) an association in extreme comparisons (BMI≥32.5, 35.0, 37.5, 40.0 kg/m2 versus BMI<25 kg/m2) yielding ORs of 1.16, 1.18, 1.22, or 1.27 (p-values 0.001 to 0.003), which was also underscored by significantly increased CC-genotype frequencies across BMI categories (10.4% to 12.5%, p-value for trend = 0.0002). We did not find evidence for differential ORs (c) among studies with higher than average obesity prevalence compared to lower, (d) among studies with BMI assessment after the year 2000 compared to those before, or (e) among studies from older populations compared to younger. Analysis of non-Caucasian adults (n = 4889) or children (n = 3243) yielded ORs of 1.01 (p-value = 0.94) or 1.15 (p-value = 0.22), respectively. There was no evidence for overall association of the rs7566605 polymorphism with obesity. Our data suggested an association with extreme degrees of obesity, and consequently heterogeneous effects from different study designs may mask an underlying association when unaccounted for. The importance of study design might be under-recognized in gene discovery and association replication so far. Author Summary A polymorphism of the INSIG2 gene was identified as being associated with obesity in one of the first genome-wide association studies. However, this association has since then been highly debated upon inconsistent subsequent reports. We collected association information from 34 studies including a total of 74,000 participants. In a meta-analysis of the 27 studies including 66,000 Caucasian adults, we found no overall association of this polymorphism rs7566605 with obesity, comparing subjects with a body-mass-index (BMI)≥30 kg/m2 with normal BMI subjects (BMI<30 kg/m2). Our data suggested an association of this polymorphism with extreme obesity (e.g., BMI≥37.5 kg/m2) compared to normal controls. Such an association with extreme obesity might induce heterogeneous effects from different study designs depending on the proportion of extreme obesity included by the design. However, further studies would be required to substantiate this finding. The importance of study design might be under-recognized in gene discovery and association replication so far.
CORE (RIOXX-UK Aggre... arrow_drop_down PLoS Genetics; University of Southern Denmark Research OutputArticle . 2009Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2009Data sources: Spiral - Imperial College Digital RepositoryOxford University Research ArchiveOther literature type . 2016License: CC BYData sources: Oxford University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2009Data sources: Universitätsbibliographie, Universität Duisburg-EssenPublication Server of Helmholtz Zentrum München (PuSH)Article . 2009Data sources: Publication Server of Helmholtz Zentrum München (PuSH)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=10.1371/journal.pgen.1000694&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu74 citations 74 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 8visibility views 8 download downloads 61 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down PLoS Genetics; University of Southern Denmark Research OutputArticle . 2009Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2009Data sources: Spiral - Imperial College Digital RepositoryOxford University Research ArchiveOther literature type . 2016License: CC BYData sources: Oxford University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2009Data sources: Universitätsbibliographie, Universität Duisburg-EssenPublication Server of Helmholtz Zentrum München (PuSH)Article . 2009Data sources: Publication Server of Helmholtz Zentrum München (PuSH)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=10.1371/journal.pgen.1000694&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Italy, Spain, United Kingdom, Germany, Spain, Canada, United Kingdom, Netherlands, Sweden, Italy, NorwayPublic Library of Science (PLoS) NIH | CHS RETINAL READING CENTE..., AKA | Carotid Intima Media Thic..., NIH | CARDIOVASCULAR HEALTH STU... +6 projectsNIH| CHS RETINAL READING CENTER ,AKA| Carotid Intima Media Thickness (IMT) and IMT-Progression as Predictors of Vascular Events in a High Risk European Population (IMPROVE) ,NIH| CARDIOVASCULAR HEALTH STUDY--ECHOCARDIOGRAPHY ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Stroke Incidence and Risk Factors in a Tri-Ethnic Region ,NIH| MRI READING CENTER FOR THE CARDIOVASCULAR HEALTH STUDY ,NIH| CHS-ULTRASOUND READING ,NIH| CHS-Transition Phase -268055222Matthias W. Lorenz; Lu Gao; Kathrin Ziegelbauer; Giuseppe Danilo Norata; Jean Philippe Empana; Irene Schmidtmann; Hung-Ju Lin; Stela McLachlan; Lena Bokemark; Kimmo Ronkainen; Mauro Amato; Ulf Schminke; Sathanur R. Srinivasan; Lars Lind; Shuhei Okazaki; Coen D.A. Stehouwer; Peter Willeit; Joseph F. Polak; Helmuth Steinmetz; Dirk Sander; Holger Poppert; Moïse Desvarieux; M. Arfan Ikram; Stein Harald Johnsen; Daniel Staub; Cesare R. Sirtori; Bernhard Iglseder; Oscar Beloqui; Gunnar Engström; Alfonso Friera; Francesco Rozza; Wuxiang Xie; Grace Parraga; Liliana Grigore; Matthieu Plichart; Stefan Blankenberg; Ta-Chen Su; Caroline Schmidt; Tomi-Pekka Tuomainen; Fabrizio Veglia; Henry Völzke; Giel Nijpels; Johann Willeit; Ralph L. Sacco; Oscar H. Franco; Heiko Uthoff; Bo Hedblad; Carmen Suárez; Raffaele Izzo; Dong Zhao; Thapat Wannarong; Alberico L. Catapano; Pierre Ducimetière; Christine Espinola-Klein; Kuo-Liong Chien; Jackie F. Price; Göran Bergström; Jussi Kauhanen; Elena Tremoli; Marcus Dörr; Gerald S. Berenson; Kazuo Kitagawa; Jacqueline M. Dekker; Stefan Kiechl; Matthias Sitzer; Horst Bickel; Tatjana Rundek; Albert Hofman; Ellisiv B. Mathiesen; Samuela Castelnuovo; Manuel F. Landecho; Maria Rosvall; Rafael Gabriel; Nicola De Luca; Jing Liu; Damiano Baldassarre; Maryam Kavousi; Eric de Groot; Michiel L. Bots; David Yanez; Simon G. Thompson;handle: 10171/66133 , 20.500.12105/6446 , 1874/377042 , 1765/105848 , 20.500.11820/356d6f52-842c-4a84-b401-c2b08af16ce5 , 11588/717322 , 20.500.12530/37095 , 2434/570170
pmc: PMC5896895 , PMC6147579
AIMS: Carotid intima media thickness (CIMT) predicts cardiovascular (CVD) events, but the predictive value of CIMT change is debated. We assessed the relation between CIMT change and events in individuals at high cardiovascular risk. METHODS AND RESULTS: From 31 cohorts with two CIMT scans (total n = 89070) on average 3.6 years apart and clinical follow-up, subcohorts were drawn: (A) individuals with at least 3 cardiovascular risk factors without previous CVD events, (B) individuals with carotid plaques without previous CVD events, and (C) individuals with previous CVD events. Cox regression models were fit to estimate the hazard ratio (HR) of the combined endpoint (myocardial infarction, stroke or vascular death) per standard deviation (SD) of CIMT change, adjusted for CVD risk factors. These HRs were pooled across studies. In groups A, B and C we observed 3483, 2845 and 1165 endpoint events, respectively. Average common CIMT was 0.79mm (SD 0.16mm), and annual common CIMT change was 0.01mm (SD 0.07mm), both in group A. The pooled HR per SD of annual common CIMT change (0.02 to 0.43mm) was 0.99 (95% confidence interval: 0.95-1.02) in group A, 0.98 (0.93-1.04) in group B, and 0.95 (0.89-1.04) in group C. The HR per SD of common CIMT (average of the first and the second CIMT scan, 0.09 to 0.75mm) was 1.15 (1.07-1.23) in group A, 1.13 (1.05-1.22) in group B, and 1.12 (1.05-1.20) in group C. CONCLUSIONS: We confirm that common CIMT is associated with future CVD events in individuals at high risk. CIMT change does not relate to future event risk in high-risk individuals. The PROG-IMT project, which includes this publication, has been funded by the German Research Foundation (Deutsche Forschungsgemeinschaft, www.dfg.de) under the grants DFG Lo 1569/2-1 and DFG Lo 1569/2-3, received by MWL. The DFG had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Simon Thompson is supported by the British heart Foundation (CH/12/2/29428). Some of the contributing studies were funded by different parties, as listed in the acknowledgement section. Here, too, the funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Sí
Archivio Istituziona... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAPLoS ONE; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: CC BYHochschulschriftenserver - Universität Frankfurt am MainArticle . 2018Data sources: Hochschulschriftenserver - Universität Frankfurt am MainRecolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1371/journal.pone.0191172&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu60 citations 60 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 5visibility views 5 download downloads 13 Powered bymore_vert Archivio Istituziona... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAPLoS ONE; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: CC BYHochschulschriftenserver - Universität Frankfurt am MainArticle . 2018Data sources: Hochschulschriftenserver - Universität Frankfurt am MainRecolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1371/journal.pone.0191172&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2021 United Kingdom, Spain, Canada, ItalyProceedings of the National Academy of Sciences UKRI | Genomic imprinting and th..., WTUKRI| Genomic imprinting and the epigenetic control of developmental processes ,WTRaquel Montalbán-Loro; Glenda Lassi; Anna Lozano-Ureña; Ana Perez-Villalba; Esteban Jiménez-Villalba; Marika Charalambous; Giorgio Vallortigara; Alexa E. Horner; Lisa M. Saksida; Timothy J. Bussey; José Luis Trejo; Valter Tucci; Anne C. Ferguson-Smith; Sacri R. Ferrón;Neurogenesis in the adult brain gives rise to functional neurons, which integrate into neuronal circuits and modulate neural plasticity. Sustained neurogenesis throughout life occurs in the subgranular zone (SGZ) of the dentate gyrus in the hippocampus and is hypothesized to be involved in behavioral/cognitive processes such as memory and in diseases. Genomic imprinting is of critical importance to brain development and normal behavior, and exemplifies how epigenetic states regulate genome function and gene dosage. While most genes are expressed from both alleles, imprinted genes are usually expressed from either the maternally or the paternally inherited chromosome. Here, we show that in contrast to its canonical imprinting in nonneurogenic regions, Delta-like homolog 1 (Dlk1) is expressed biallelically in the SGZ, and both parental alleles are required for stem cell behavior and normal adult neurogenesis in the hippocampus. To evaluate the effects of maternally, paternally, and biallelically inherited mutations within the Dlk1 gene in specific behavioral domains, we subjected Dlk1-mutant mice to a battery of tests that dissociate and evaluate the effects of Dlk1 dosage on spatial learning ability and on anxiety traits. Importantly, reduction in Dlk1 levels triggers specific cognitive abnormalities that affect aspects of discriminating differences in environmental stimuli, emphasizing the importance of selective absence of imprinting in this neurogenic niche. This work was supported by grants from Ministerio de Economía y Competitividad (SAF2016-78845-R and PID2019-110045GB-I00), Fundación Banco Bilbao Vizcaya Argentaria, and Generalitat Valenciana (AICO/2020/367) to S.R.F. and grants from the Medical Research Council (MR/R009791/1), Wellcome Trust (21757/Z/18/Z), and European Union FP7 Ingenium Training Network to A.C.F.-S. R.M.-L. was funded by a Spanish Researchers Formation program, and A.L.-U. was fundedby the Generalitat Valenciana fellowship program.
IRIS - Institutional... arrow_drop_down Proceedings of the National Academy of SciencesArticle . 2021License: CC BY NC NDData sources: CrossrefRecolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021Recolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021 . 2022add 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=10.1073/pnas.2015505118&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu14 citations 14 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 32visibility views 32 download downloads 119 Powered bymore_vert IRIS - Institutional... arrow_drop_down Proceedings of the National Academy of SciencesArticle . 2021License: CC BY NC NDData sources: CrossrefRecolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021Recolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021 . 2022add 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=10.1073/pnas.2015505118&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2018 Sweden, Netherlands, Canada, Italy, Italy, SwitzerlandAmerican Medical Association (AMA) Knip M.; Akerblom H. K.; Altaji E.; Becker D.; Bruining J.; Castano L.; Danne T.; De Beaufort C.; Dosch H. -M.; Dupre J.; Fraser W. D.; Howard N.; Ilonen J.; Konrad D.; Kordonouri O.; Krischer J. P.; Lawson M. L.; Ludvigsson J.; Madacsy L.; Mahon J. L.; Ormisson A.; Palmer J. P.; Pozzilli P.; Savilahti E.; Serrano-Rios M.; Songini M.; Taback S.; Vaarala O.; White N. H.; Virtanen S. M.; Wasikowa R.; Mandrup-Poulsen T.; Arjas E.; Lernmark A.; Laara E.; Schmidt B.; Hyytinen M.; Koski K.; Koski M.; Merentie K.; Pajakkala E.; Reunanen A.; Salonen M.; Terhonen T.; Virkkunen S.; Cuthbertson D.; Gainer B.; Hadley D.; Malloy J.; Nallamshetty L.; Shanker L.; Bradley B.; Lough G.; Fraser W.; Sermer M.; Taback S. P.; Franciscus M.; Nucci A.; Palmer J.; Alahuhta K.; Barlund S.; Korhonen T.; Kovanen L.; Lehtonen E.; Niinisto S.; Pekkala M.; Sorkio S.; Toivanen L.; Vahatalo L.; Uusitalo U.; Ohman T.; Bongiorno R.; Catteau J.; Fraser G.; Lloyd M.; Crock P.; Giles M.; Siech K.; See D. W.; Brown C.; Craig M.; Johnston A.; Bere L. J.; Clarson C. L.; Jenner M.; McManus R.; Renato N.; Lovell M.; Higo D.; Kent N.; Kwan J.; Marshall C.; Metzger D.; Chanoine J. -P.; Stewart L.; Thompson D.; Edwards A.; Lange I.; Mercer J.; Pacaud D.; Josephine H.; Schwarz W.; Stephure D. K.; Boer J.; Chatur T.; Chick C.; Couch B.; Demianczuk N.; Girgis R.; Marks S.; Ryan E.; Thompson M.; Dean H. J.; Grant L.; Hamelin K.; LaForte J.; Murphy L.; Catte D.; Schneider C.; Sellers E. A. C.; Woo V.; Boland A.; Clark H. D.; Cooper T.; Gruslin A.; Karovitch A.; Keely E.; Malcolm J. C.; Sauro V.; Tawagi G. F.; Andrighetti S.; Arnold G.; Barrett J.; Blumer I.; Daneman D.; Donat D.; Ehrlich R.; Feig D.; Gottesman I.; Gysler M.; Karkanis S.; Kenshole A.; Knight B.; Lackie E.; Lewis V.; Martin M. J.; Maxwell C.; Oliver G.; Panchum P.; Shilletto N.; Simone A.; Skidmore M.; Turrini T.; Wong S.; Allen C.; Belanger L.; Bouchard I.; Ferland S.; Frenette L.; Garrido-Russo M.; Leblanc M.; Imbeault J.; Morin V.; Olivier G.; Weisnagell J.; Costain G.; Dornan J.; Heath K.; MacSween M. -C.; McGibbon A.; Ramsay C.; Sanderson F.; Sanderson S.; Benabdesselam L.; Gonthier M.; Huot C.; Thibeault M.; Laforte D.; Legault L.; Perron P.; Armson A.; Canning P.; Cummings E. A.; Ivanko V.; McLeod L.; Mokashi A.; Scott K.; Bridger T.; Crane J.; Crummell C.; Curtis J. C.; Dawson C.; Joyce C.; Newhook L. A.; Newman S.; Druken E.; Begum-Hasan J.; Breen A.; Houlden R.; Woods M.; Tillmann V.; Biester T.; Giordano C.; Khazrai Y. M.; Maddaloni E.; Pitocco D.; Tabacco G.; Mannu C.; Basiak A.; Wikiera B.; Szadkowska A.; Bilbao J. R.; Fernandez B. H.; Luis J. L.;IMPORTANCE Early exposure to complex dietary proteins may increase the risk of type 1 diabetes in children with genetic disease susceptibility. There are no intact proteins in extensively hydrolyzed formulas. OBJECTIVE To test the hypothesis that weaning to an extensively hydrolyzed formula decreases the cumulative incidence of type 1 diabetes in young children. DESIGN, SETTING, AND PARTICIPANTS An international double-blind randomized clinical trial of 2159 infants with human leukocyte antigen-conferred disease susceptibility and a first-degree relative with type 1 diabetes recruited from May 2002 to January 2007 in 78 study centers in 15 countries; 1081 were randomized to be weaned to the extensively hydrolyzed casein formula and 1078 to a conventional formula. The follow-up of the participants ended on February 28, 2017. INTERVENTIONS The participants received either a casein hydrolysate or a conventional adapted cows milk formula supplemented with 20% of the casein hydrolysate. The minimum duration of study formula exposure was 60 days by 6 to 8 months of age. MAIN OUTCOMES AND MEASURES Primary outcome was type 1 diabetes diagnosed according to World Health Organization criteria. Secondary outcomes included age at diabetes diagnosis and safety (adverse events). RESULTS Among 2159 newborn infants (1021 female [47.3%]) who were randomized, 1744 (80.8%) completed the trial. The participants were observed for a median of 11.5 years (quartile [Q] 1-Q3, 10.2-12.8). The absolute risk of type 1 diabetes was 8.4% among those randomized to the casein hydrolysate (n = 91) vs 7.6% among those randomized to the conventional formula (n = 82) (difference, 0.8%[95% CI, -1.6% to 3.2%]). The hazard ratio for type 1 diabetes adjusted for human leukocyte antigen risk group, duration of breastfeeding, duration of study formula consumption, sex, and region while treating study center as a random effect was 1.1 (95% CI, 0.8 to 1.5; P = .46). The median age at diagnosis of type 1 diabetes was similar in the 2 groups (6.0 years [Q1-Q3, 3.1-8.9] vs 5.8 years [Q1-Q3, 2.6-9.1]; difference, 0.2 years [95% CI, -0.9 to 1.2]). Upper respiratory infections were the most common adverse event reported (frequency, 0.48 events/year in the hydrolysate group and 0.50 events/year in the control group). CONCLUSIONS AND RELEVANCE Among infants at risk for type 1 diabetes, weaning to a hydrolyzed formula compared with a conventional formula did not reduce the cumulative incidence of type 1 diabetes after median follow-up for 11.5 years. These findings do not support a need to revise the dietary recommendations for infants at risk for type 1 diabetes. Funding Agencies|Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD); National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health [HD040364, HD042444, HD051997]; Canadian Institutes of Health Research; Commission of the European Communities [QLK1-2002-00372]; European Foundation for the Study of Diabates/JDRF/Novo Nordisk; Academy of Finland (Centre of Excellence in Molecular Systems Immunology and Physiology Research) [250114]; Dutch Diabetes Research Foundation; Finnish Diabetes Research Foundation; JDRF
Archivio istituziona... arrow_drop_down Zurich Open Repository and ArchiveOther literature type . 2018Data sources: Zurich Open Repository and Archiveadd 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=10.1001/jama.2017.19826&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu101 citations 101 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!more_vert Archivio istituziona... arrow_drop_down Zurich Open Repository and ArchiveOther literature type . 2018Data sources: Zurich Open Repository and Archiveadd 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=10.1001/jama.2017.19826&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 Italy, Italy, CanadaCold Spring Harbor Laboratory Maria Teresa Borrello; Maria Rita Emma; Angela Listi; Marion Rubis; Sergiu Coslet; Giuseppa Augello; Antonella Cusimano; Daniela Cabibi; Rossana Porcasi; Lydia Giannitrapani; Maurizio Soresi; Gianni Pantuso; Karen Blyth; Giuseppe Montalto; Christopher L. Pin; Melchiorre Cervello; Juan L. Iovanna;pmid: 34033141
AbstractBackground and AimsNon-alcoholic fatty liver disease and related hepatic syndromes affect up to one third of the adult population. The molecular mechanisms underlying NAFL etiology remain elusive. Nuclear Protein 1 (NUPR1) expression increases upon cell injury in all organs and recently we report its active participation in the activation of the Unfolded Protein Response (UPR). The UPR typically maintains protein homeostasis, but downstream mediators of the pathway regulate metabolic functions, including lipid metabolism. NUPR1 and UPR increase have been reported in obesity and liver pathologies and the goal of this study was to investigate the roles of NUPR1 in this context.MethodsWe used patient-derived liver biopsies andin vitroandin vivoNUPR1 loss of functions models. First, we analysed NUPR1 expression in a cohort of morbidly obese patients (MOPs), with either simple fatty liver (NAFL) or more severe steatohepatitis (NASH). Next, we explored the metabolic roles of NUPR1 in wild type (Nupr1+/+) orNupr1knockout mice (Nupr1-/-) fedad libitumwith a high fat diet (HFD) for up to 15 weeks.ResultsNUPR1 expression is inversely correlated to hepatic steatosis progression. We found that NUPR1 participates in the activation of PPAR-α signalling via UPR. PPAR-α signalling, is involved in the maintenance of fat metabolism and proper lipid homeostasis and energy balance. As PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.ObjectiveNon-alcoholic fatty liver (NAFL) disease and related hepatic syndromes affect up to one third of the adult population in industrialised and developing countries. However, the molecular mechanisms underlying NAFL etiology remain elusive. Nuclear Protein 1 (NUPR1) expression increases upon cell injury in all organs including the liver. Recently, we report NUPR1 actively participates in activation of the Unfolded Protein Response (UPR). The UPR typically maintains protein homeostasis, but downstream mediators of the pathway regulate metabolic functions, including lipid metabolism. NUPR1 and UPR increase have been reported in obesity and liver pathologies and the goal of this study was to investigate the roles of NUPR1 in this context.DesignWe used patient-derived liver biopsies andin vitroandin vivoNUPR1 loss of functions models. First, we analysed NUPR1 expression in a cohort of morbidly obese patients (MOPs), with either simple fatty liver (NAFL) or more severe steatohepatitis (NASH). Next, we explored the metabolic roles of NUPR1 in wild type (Nupr1+/+) orNupr1knockout mice (Nupr1-/-) fedad libitumwith a high fat diet (HFD) for up to 15 weeks.ResultsNUPR1 expression is inversely correlated to hepatic steatosis progression. Mechanistically, we found NUPR1 participates in the activation of PPAR-α signalling via UPR. PPAR-α signalling, is involved in the maintenance of fat metabolism and proper lipid homeostasis and energy balance. As PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.ConclusionsAs PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.Lay summaryNUPR1 is activated during high caloric intake in both mice and patients. Decrease in expression or inhibition of NUPR1 worsens lipid deposition and hepatic damage.Graphical abstractHighlightsNUPR1 protects liver from high caloric intake hepatic damageThe function of NUPR1 in this context is to control the lipid homeostasis through the UPR and more specifically through PPAR-α signalling.NUPR1 could be used as a predictive marker for the gravity of NAFL progression. Moreover, as clinical interest is being raised around NUPR1 inhibitors to treat liver and pancreatic cancer, care should be taken in monitoring lipotoxic parameters.
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=10.1101/2020.10.23.350652&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4 citations 4 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.
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=10.1101/2020.10.23.350652&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 Canada, DenmarkHindawi Limited Authors: José Miguel Rivera-Caravaca; Iván J. Núñez-Gil; Gregory Y. H. Lip; Aitor Uribarri; +27 AuthorsJosé Miguel Rivera-Caravaca; Iván J. Núñez-Gil; Gregory Y. H. Lip; Aitor Uribarri; María C. Viana-Llamas; Adelina Gonzalez; Alex F. Castro-Mejía; Berta Alonso González; Emilio Alfonso; Juan Fortunato García Prieto; Chiara Cavallino; Bernardo Cortese; Gisela Feltes; Inmaculada Fernández-Rozas; Jaime Signes-Costa; Jia Huang; Marcos García Aguado; Martino Pepe; Rodolfo Romero; Enrico Cerrato; Víctor Manuel Becerra-Muñoz; Sergio Raposeiras Roubin; Francesco Santoro; Rodrigo Bagur; Luciano Sposato; Ibrahim El-Battrawy; Alvaro López Masjuan; Antonio Fernandez-Ortiz; Vicente Estrada; Carlos Macaya; Francisco Marín;Background. Most evidence regarding anticoagulation and COVID-19 refers to the hospitalization setting, but the role of oral anticoagulation (OAC) before hospital admission has not been well explored. We compared clinical outcomes and short-term prognosis between patients with and without prior OAC therapy who were hospitalized for COVID-19. Methods. Analysis of the whole cohort of the HOPE COVID-19 Registry which included patients discharged (deceased or alive) after hospital admission for COVID-19 in 9 countries. All-cause mortality was the primary endpoint. Study outcomes were compared after adjusting variables using propensity score matching (PSM) analyses. Results. 7698 patients were suitable for the present analysis (675 (8.8%) on OAC at admission: 427 (5.6%) on VKAs and 248 (3.2%) on DOACs). After PSM, 1276 patients were analyzed (638 with OAC; 638 without OAC), without significant differences regarding the risk of thromboembolic events (OR 1.11, 95% CI 0.59–2.08). The risk of clinically relevant bleeding (OR 3.04, 95% CI 1.92–4.83), as well as the risk of mortality (HR 1.22, 95% CI 1.01–1.47; log-rank p value = 0.041), was significantly increased in previous OAC users. Amongst patients on prior OAC only, there were no differences in the risk of clinically relevant bleeding, thromboembolic events, or mortality when comparing previous VKA or DOAC users, after PSM. Conclusion. Hospitalized COVID-19 patients on prior OAC therapy had a higher risk of mortality and worse clinical outcomes compared to patients without prior OAC therapy, even after adjusting for comorbidities using a PSM. There were no differences in clinical outcomes in patients previously taking VKAs or DOACs. This trial is registered with NCT04334291/EUPAS34399.
VBN; Aalborg Univers... arrow_drop_down VBN; Aalborg University Research PortalArticle . 2022Repositorio Institucional de Salud de Andalucía - Andalusian Health RepositoryArticle . 2022License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2022Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1155/2022/7325060&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert VBN; Aalborg Univers... arrow_drop_down VBN; Aalborg University Research PortalArticle . 2022Repositorio Institucional de Salud de Andalucía - Andalusian Health RepositoryArticle . 2022License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2022Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1155/2022/7325060&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Canada, Norway, Portugal, United Kingdom, Netherlands, Poland, Spain, Australia, Portugal, Norway, United KingdomMassachusetts Medical Society Ashkan Afshin; Mohammad H. Forouzanfar; Marissa B Reitsma; Patrick J Sur; Kara Estep; Alexander Lee; Laurie B. Marczak; Ali H. Mokdad; Maziar Moradi-Lakeh; Mohsen Naghavi; Joseph Salama; Theo Vos; Kalkidan Hassen Abate; Cristiana Abbafati; Muktar Beshir Ahmed; Ziad Al-Aly; Ala'a Alkerwi; Rajaa Al-Raddadi; Azmeraw T. Amare; Alemayehu Amberbir; Adeladza Kofi Amegah; Erfan Amini; Stephen M. Amrock; Ranjit Mohan Anjana; Johan Ärnlöv; Hamid Asayesh; Amitava Banerjee; Aleksandra Barac; Estifanos Baye; Derrick A Bennett; Addisu Shunu Beyene; Sibhatu Biadgilign; Stan Biryukov; Espen Bjertness; Dube Jara Boneya; Ismael R. Campos-Nonato; Juan Jesus Carrero; Pedro Cecilio; Kelly Cercy; Liliana G Ciobanu; Leslie Cornaby; Solomon Abrha Damtew; Lalit Dandona; Rakhi Dandona; Samath D Dharmaratne; Bruce Bartholow Duncan; Babak Eshrati; Alireza Esteghamati; Valery L. Feigin; João C. Fernandes; Thomas Fürst; Tsegaye Tewelde Gebrehiwot; Audra L Gold; Philimon Gona; Atsushi Goto; Tesfa Dejenie Habtewold; Kokeb T. Hadush; Nima Hafezi-Nejad; Simon I. Hay; Masako Horino; Farhad Islami; Ritul Kamal; Amir Kasaeian; Srinivasa Vittal Katikireddi; Andre Pascal Kengne; Chandrasekharan Nair Kesavachandran; Yousef Khader; Young-Ho Khang; Jagdish Khubchandani; Daniel Kim; Yun Jin Kim; Yohannes Kinfu; Soewarta Kosen; Tiffany Ku; Barthelemy Kuate Defo; Anil Kumar; Heidi J. Larson; Mall Leinsalu; Xiaofeng Liang; Stephen S Lim; Patrick Liu; Alan D. Lopez; Rafael Lozano; Azeem Majeed; Reza Malekzadeh; Deborah Carvalho Malta; Mohsen Mazidi; Colm McAlinden; Stephen T. McGarvey; Desalegn Tadese Mengistu; George A. Mensah; Gert B. M. Mensink; Haftay Berhane Mezgebe; Erkin M. Mirrakhimov; Ulrich O Mueller; Jean Jacques Noubiap; Carla Makhlouf Obermeyer; Felix Akpojene Ogbo; Mayowa O. Owolabi; George C Patton; Farshad Pourmalek; Mostafa Qorbani; Anwar Rafay; Rajesh Kumar Rai; Chhabi Lal Ranabhat; Nikolas Reinig; Saeid Safiri; Joshua A. Salomon; Juan Sanabria; Itamar S. Santos; Benn Sartorius; Monika Sawhney; Josef Schmidhuber; Aletta E. Schutte; Maria Inês Schmidt; Sadaf G. Sepanlou; Moretza Shamsizadeh; Sara Sheikhbahaei; Min Jeong Shin; Rahman Shiri; Ivy Shiue; Hirbos Shore Roba; Diego Augusto Santos Silva; Jonathan I. Silverberg; Jasvinder A. Singh; Saverio Stranges; Soumya Swaminathan; Rafael Tabarés-Seisdedos; Fentaw Tadese; Bemnet Amare Tedla; Balewgizie Sileshi Tegegne; Abdullah Sulieman Terkawi; Jarnail Singh Thakur; Marcello Tonelli; Roman Topor-Madry; Stefanos Tyrovolas; Kingsley N. Ukwaja; Olalekan A. Uthman; Masoud Vaezghasemi; Tommi Vasankari; Vasiliy Victorovich Vlassov; Stein Emil Vollset; Elisabete Weiderpass; Andrea Werdecker; Joshua Wesana; Ronny Westerman; Yuichiro Yano; Naohiro Yonemoto; Gerald Yonga; Zoubida Zaidi; Zerihun Menlkalew Zenebe; Ben Zipkin; Christopher J L Murray;pmc: PMC5477817
pmid: 28604169
Source at: http://doi.org/10.1056/NEJMoa1614362 Background: Although the rising pandemic of obesity has received major attention in many countries, the effects of this attention on trends and the disease burden of obesity remain uncertain. Methods: We analyzed data from 68.5 million persons to assess the trends in the prevalence of overweight and obesity among children and adults between 1980 and 2015. Using the Global Burden of Disease study data and methods, we also quantified the burden of disease related to high body-mass index (BMI), according to age, sex, cause, and BMI in 195 countries between 1990 and 2015. Restults: In 2015, a total of 107.7 million children and 603.7 million adults were obese. Since 1980, the prevalence of obesity has doubled in more than 70 countries and has continuously increased in most other countries. Although the prevalence of obesity among children has been lower than that among adults, the rate of increase in childhood obesity in many countries has been greater than the rate of increase in adult obesity. High BMI accounted for 4.0 million deaths globally, nearly 40% of which occurred in persons who were not obese. More than two thirds of deaths related to high BMI were due to cardiovascular disease. The disease burden related to high BMI has increased since 1990; however, the rate of this increase has been attenuated owing to decreases in underlying rates of death from cardiovascular disease. Conclusions: The rapid increase in the prevalence and disease burden of elevated BMI highlights the need for continued focus on surveillance of BMI and identification, implementation, and evaluation of evidence-based interventions to address this problem.
Europe PubMed Centra... arrow_drop_down NARCIS; New England Journal of MedicineArticle . 2017Oxford University Research Archive; New England Journal of MedicineOther literature type . Article . 2017Norwegian Institute of Public Health Open RepositoryArticle . 2017Data sources: Norwegian Institute of Public Health Open RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryRepositório Institucional da Universidade Católica PortuguesaOther literature type . 2017add 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=10.1056/nejmoa1614362&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4K citations 4,117 popularity Top 0.01% influence Top 0.1% impulse Top 0.01% Powered by BIP!visibility 938visibility views 938 download downloads 3,714 Powered bymore_vert Europe PubMed Centra... arrow_drop_down NARCIS; New England Journal of MedicineArticle . 2017Oxford University Research Archive; New England Journal of MedicineOther literature type . Article . 2017Norwegian Institute of Public Health Open RepositoryArticle . 2017Data sources: Norwegian Institute of Public Health Open RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryRepositório Institucional da Universidade Católica PortuguesaOther literature type . 2017add 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=10.1056/nejmoa1614362&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2017 Canada, NorwayMDPI AG Ala'a Alkerwi; Illiasse El Bahi; Saverio Stranges; Jean Beissel; Charles Delagardelle; Stephanie Noppe; Ngianga-Bakwin Kandala;Cardiovascular disease (CVD) and associated behavioural and metabolic risk factors constitute a major public health concern at a global level. Many reports worldwide have documented different risk profiles for populations with demographic variations. The objective of this study was to examine geographic variations in the top leading cardio metabolic and behavioural risk factors in Luxembourg, in order to provide an overall picture of CVD burden across the country. The analysis conducted was based on data from the nationwide ORISCAV-LUX survey, including 1432 subjects, aged 18-69 years. A self-reported questionnaire, physical examination and blood sampling were performed. Age and sex-adjusted risk profile maps were generated using multivariate Bayesian geo-additive regression models, based on Markov Chain Monte Carlo techniques and were used to evaluate the significance of the spatial effects on the distribution of a range of cardio metabolic risk factors, namely smoking, high body mass index (BMI), high blood pressure, high fasting plasma glucose, alcohol use, high total cholesterol, low glomerular filtration rate, and physical inactivity. Higher prevalence of smoking was observed in the northern regions, higher overweight/obesity and abdominal obesity clustered in the central belt, whereas hypertension was spotted particularly in the southern part of the country. Maps revealed that subjects residing in Luxembourg canton were significantly less likely to be hypertensive or overweight/obese, whereas they were less likely to practice physical activity of ≥8000 Metabolic Equivalent of Task (MET)-min/week. These patterns were also observed at the municipality level in Luxembourg. Statistically, there were non-significant spatial patterns regarding smoking, diabetes, total serum cholesterol and low glomerular filtration rate risk distribution. This comprehensive risk profile mapping showed remarkable geographic variations in cardio metabolic and behavioural risk factors. Considering the prominent burden of CVD this research provides opportunities for tailored interventions and may help to better fight against this escalating public health problem. nivå1
International Journa... arrow_drop_down International Journal of Environmental Research and Public HealthOther literature type . Article . 2017License: CC BYInternational Journal of Environmental Research and Public HealthArticleLicense: CC BYData sources: UnpayWalladd 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=10.3390/ijerph14060648&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 2visibility views 2 download downloads 45 Powered bymore_vert International Journa... arrow_drop_down International Journal of Environmental Research and Public HealthOther literature type . Article . 2017License: CC BYInternational Journal of Environmental Research and Public HealthArticleLicense: CC BYData sources: UnpayWalladd 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=10.3390/ijerph14060648&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaOxford University Press (OUP) UKRI | Biological mechanisms und..., CIHRUKRI| Biological mechanisms underlying the onset and outcome of cannabis-associated psychosis. ,CIHROlesya Ajnakina; Tushar Das; John Lally; Marta Di Forti; Carmine M. Pariante; Tiago Reis Marques; Valeria Mondelli; Anthony S. David; Robin M. Murray; Lena Palaniyappan; Paola Dazzan;AbstractTreatment resistance (TR) in patients with first-episode psychosis (FEP) is a major cause of disability and functional impairment, yet mechanisms underlying this severe disorder are poorly understood. As one view is that TR has neurodevelopmental roots, we investigated whether its emergence relates to disruptions in synchronized cortical maturation quantified using gyrification-based connectomes. Seventy patients with FEP evaluated at their first presentation to psychiatric services were followed up using clinical records for 4 years; of these, 17 (24.3%) met the definition of TR and 53 (75.7%) remained non-TR at 4 years. Structural MRI images were obtained within 5 weeks from first exposure to antipsychotics. Local gyrification indices were computed for 148 contiguous cortical regions using FreeSurfer; each subject’s contribution to group-based structural covariance was quantified using a jack-knife procedure, providing a single deviation matrix for each subject. The latter was used to derive topological properties that were compared between TR and non-TR patients using a Functional Data Analysis approach. Compared to the non-TR patients, TR patients showed a significant reduction in small-worldness (Hedges’s g = 2.09, P < .001) and a reduced clustering coefficient (Hedges’s g = 1.07, P < .001) with increased length (Hedges’s g = −2.17, P < .001), indicating a disruption in the organizing principles of cortical folding. The positive symptom burden was higher in patients with more pronounced small-worldness (r = .41, P = .001) across the entire sample. The trajectory of synchronized cortical development inferred from baseline MRI-based structural covariance highlights the possibility of identifying patients at high-risk of TR prospectively, based on individualized gyrification-based connectomes.
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=10.1093/schbul/sbab035&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu14 citations 14 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.
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=10.1093/schbul/sbab035&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu
Loading
description Publicationkeyboard_double_arrow_right Article 2021 Italy, Canada, Italy, Denmark, FranceOvid Technologies (Wolters Kluwer Health) NIH | Institutional Clinical an..., NIH | Channelopathy-Associated ..., NIH | The Intellectual and Deve... +2 projectsNIH| Institutional Clinical and Translational Science Award ,NIH| Channelopathy-Associated Epilepsy Research Center ,NIH| The Intellectual and Developmental Disabilities Research Center at CHOP/Penn ,NIH| Joint analysis of genomic and electronic medical record data to assess outcomes and drug response in pediatric epilepsies ,NHMRC| Melanoma diagnosis, and the effect of screening on depth of invasion of melanoma.Johannesen K. M.; Gardella E.; Gjerulfsen C. E.; Bayat A.; Rouhl R. P. W.; Reijnders M.; Whalen S.; Keren B.; Buratti J.; Courtin T.; Wierenga K. J.; Isidor B.; Piton A.; Faivre L.; Garde A.; Moutton S.; Tran-Mau-Them F.; Denomme-Pichon A. -S.; Coubes C.; Larson A.; Esser M. J.; Appendino J. P.; Al-Hertani W.; Gamboni B.; Mampel A.; Mayorga L.; Orsini A.; Bonuccelli A.; Suppiej A.; Van-Gils J.; Vogt J.; Damioli S.; Giordano L.; Moortgat S.; Wirrell E.; Hicks S.; Kini U.; Noble N.; Stewart H.; Asakar S.; Cohen J. S.; Naidu S. R.; Collier A.; Brilstra E. H.; Li M. H.; Brew C.; Bigoni S.; Ognibene D.; Ballardini E.; Ruivenkamp C.; Faggioli R.; Afenjar A.; Rodriguez D.; Bick D.; Segal D.; Coman D.; Gunning B.; Devinsky O.; Demmer L. A.; Grebe T.; Pruna D.; Cursio I.; Greenhalgh L.; Graziano C.; Singh R. R.; Cantalupo G.; Willems M.; Yoganathan S.; Goes F.; Leventer R. J.; Colavito D.; Olivotto S.; Scelsa B.; Andrade A. V.; Ratke K.; Tokarz F.; Khan A. S.; Ormieres C.; Benko W.; Keough K.; Keros S.; Hussain S.; Franques A.; Varsalone F.; Gronborg S.; Mignot C.; Heron D.; Nava C.; Isapof A.; Borlot F.; Whitney R.; Ronan A.; Foulds N.; Somorai M.; Brandsema J.; Helbig K. L.; Helbig I.; Ortiz-Gonzalez X. R.; Dubbs H.; Vitobello A.; Anderson M.; Spadafore D.; Hunt D.; Moller R. S.; Rubboli G.;handle: 11562/1063816 , 11392/2475339
International audience; Background and Objectives Purine-rich element-binding protein A ( PURA ) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients. Methods Data on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained. Results A cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations. Discussion The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.
Archivio istituziona... arrow_drop_down IRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di VeronaUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research OutputIRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di Veronaadd 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=10.1212/nxg.0000000000000613&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4 citations 4 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert Archivio istituziona... arrow_drop_down IRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di VeronaUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research OutputIRIS - Università degli Studi di VeronaArticle . 2021Data sources: IRIS - Università degli Studi di Veronaadd 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=10.1212/nxg.0000000000000613&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2009 United Kingdom, Italy, Canada, Germany, DenmarkPublic Library of Science (PLoS) NIH | CANDIDATE GENE STUDIES OF..., WT, NIH | Genetics of cardiovascula... +1 projectsNIH| CANDIDATE GENE STUDIES OF OBESITY GUIDED BY WHOLE GENOME ASSOCIATION DATA ,WT ,NIH| Genetics of cardiovascular risk factors in large founder population birth control ,EC| ENGAGEIris M. Heid; Cornelia Huth; Ruth J. F. Loos; Florian Kronenberg; Vera Adamkova; Sonia S. Anand; Kristin G. Ardlie; Heike Biebermann; Peter Bjerregaard; Heiner Boeing; Claude Bouchard; Marina Ciullo; Jackie A. Cooper; Dolores Corella; Christian Dina; James C. Engert; Eva Fisher; Francesc Francés; Philippe Froguel; Johannes Hebebrand; Robert A. Hegele; Anke Hinney; Margret R. Hoehe; Frank B. Hu; Jaroslav A. Hubacek; Steve E. Humphries; Steven C. Hunt; Thomas Illig; M. R. Järvelin; Marika Kaakinen; Barbara Kollerits; Heiko Krude; Jitender Kumar; Leslie A. Lange; Birgit Langer; Shengxu Li; Andreas Luchner; Helen N. Lyon; David Meyre; Karen L. Mohlke; Vincent Mooser; Almut Nebel; Thuy Trang Nguyen; Bernhard Paulweber; Louis Pérusse; Lu Qi; Tuomo Rankinen; Dieter Rosskopf; Stefan Schreiber; Shantanu Sengupta; Rossella Sorice; Anita Suk; Gudmar Thorleifsson; Unnur Thorsteinsdottir; Henry Völzke; Karani Santhanakrishnan Vimaleswaran; Nicholas J. Wareham; Dawn M. Waterworth; Salim Yusuf; Cecilia M. Lindgren; Mark I. McCarthy; Christoph Lange; Joel N. Hirschhorn; Nan M. Laird; H-Erich Wichmann;The INSIG2 rs7566605 polymorphism was identified for obesity (BMI≥30 kg/m2) in one of the first genome-wide association studies, but replications were inconsistent. We collected statistics from 34 studies (n = 74,345), including general population (GP) studies, population-based studies with subjects selected for conditions related to a better health status (‘healthy population’, HP), and obesity studies (OB). We tested five hypotheses to explore potential sources of heterogeneity. The meta-analysis of 27 studies on Caucasian adults (n = 66,213) combining the different study designs did not support overall association of the CC-genotype with obesity, yielding an odds ratio (OR) of 1.05 (p-value = 0.27). The I2 measure of 41% (p-value = 0.015) indicated between-study heterogeneity. Restricting to GP studies resulted in a declined I2 measure of 11% (p-value = 0.33) and an OR of 1.10 (p-value = 0.015). Regarding the five hypotheses, our data showed (a) some difference between GP and HP studies (p-value = 0.012) and (b) an association in extreme comparisons (BMI≥32.5, 35.0, 37.5, 40.0 kg/m2 versus BMI<25 kg/m2) yielding ORs of 1.16, 1.18, 1.22, or 1.27 (p-values 0.001 to 0.003), which was also underscored by significantly increased CC-genotype frequencies across BMI categories (10.4% to 12.5%, p-value for trend = 0.0002). We did not find evidence for differential ORs (c) among studies with higher than average obesity prevalence compared to lower, (d) among studies with BMI assessment after the year 2000 compared to those before, or (e) among studies from older populations compared to younger. Analysis of non-Caucasian adults (n = 4889) or children (n = 3243) yielded ORs of 1.01 (p-value = 0.94) or 1.15 (p-value = 0.22), respectively. There was no evidence for overall association of the rs7566605 polymorphism with obesity. Our data suggested an association with extreme degrees of obesity, and consequently heterogeneous effects from different study designs may mask an underlying association when unaccounted for. The importance of study design might be under-recognized in gene discovery and association replication so far. Author Summary A polymorphism of the INSIG2 gene was identified as being associated with obesity in one of the first genome-wide association studies. However, this association has since then been highly debated upon inconsistent subsequent reports. We collected association information from 34 studies including a total of 74,000 participants. In a meta-analysis of the 27 studies including 66,000 Caucasian adults, we found no overall association of this polymorphism rs7566605 with obesity, comparing subjects with a body-mass-index (BMI)≥30 kg/m2 with normal BMI subjects (BMI<30 kg/m2). Our data suggested an association of this polymorphism with extreme obesity (e.g., BMI≥37.5 kg/m2) compared to normal controls. Such an association with extreme obesity might induce heterogeneous effects from different study designs depending on the proportion of extreme obesity included by the design. However, further studies would be required to substantiate this finding. The importance of study design might be under-recognized in gene discovery and association replication so far.
CORE (RIOXX-UK Aggre... arrow_drop_down PLoS Genetics; University of Southern Denmark Research OutputArticle . 2009Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2009Data sources: Spiral - Imperial College Digital RepositoryOxford University Research ArchiveOther literature type . 2016License: CC BYData sources: Oxford University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2009Data sources: Universitätsbibliographie, Universität Duisburg-EssenPublication Server of Helmholtz Zentrum München (PuSH)Article . 2009Data sources: Publication Server of Helmholtz Zentrum München (PuSH)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=10.1371/journal.pgen.1000694&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu74 citations 74 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 8visibility views 8 download downloads 61 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down PLoS Genetics; University of Southern Denmark Research OutputArticle . 2009Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2009Data sources: Spiral - Imperial College Digital RepositoryOxford University Research ArchiveOther literature type . 2016License: CC BYData sources: Oxford University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2009Data sources: Universitätsbibliographie, Universität Duisburg-EssenPublication Server of Helmholtz Zentrum München (PuSH)Article . 2009Data sources: Publication Server of Helmholtz Zentrum München (PuSH)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=10.1371/journal.pgen.1000694&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Italy, Spain, United Kingdom, Germany, Spain, Canada, United Kingdom, Netherlands, Sweden, Italy, NorwayPublic Library of Science (PLoS) NIH | CHS RETINAL READING CENTE..., AKA | Carotid Intima Media Thic..., NIH | CARDIOVASCULAR HEALTH STU... +6 projectsNIH| CHS RETINAL READING CENTER ,AKA| Carotid Intima Media Thickness (IMT) and IMT-Progression as Predictors of Vascular Events in a High Risk European Population (IMPROVE) ,NIH| CARDIOVASCULAR HEALTH STUDY--ECHOCARDIOGRAPHY ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Stroke Incidence and Risk Factors in a Tri-Ethnic Region ,NIH| MRI READING CENTER FOR THE CARDIOVASCULAR HEALTH STUDY ,NIH| CHS-ULTRASOUND READING ,NIH| CHS-Transition Phase -268055222Matthias W. Lorenz; Lu Gao; Kathrin Ziegelbauer; Giuseppe Danilo Norata; Jean Philippe Empana; Irene Schmidtmann; Hung-Ju Lin; Stela McLachlan; Lena Bokemark; Kimmo Ronkainen; Mauro Amato; Ulf Schminke; Sathanur R. Srinivasan; Lars Lind; Shuhei Okazaki; Coen D.A. Stehouwer; Peter Willeit; Joseph F. Polak; Helmuth Steinmetz; Dirk Sander; Holger Poppert; Moïse Desvarieux; M. Arfan Ikram; Stein Harald Johnsen; Daniel Staub; Cesare R. Sirtori; Bernhard Iglseder; Oscar Beloqui; Gunnar Engström; Alfonso Friera; Francesco Rozza; Wuxiang Xie; Grace Parraga; Liliana Grigore; Matthieu Plichart; Stefan Blankenberg; Ta-Chen Su; Caroline Schmidt; Tomi-Pekka Tuomainen; Fabrizio Veglia; Henry Völzke; Giel Nijpels; Johann Willeit; Ralph L. Sacco; Oscar H. Franco; Heiko Uthoff; Bo Hedblad; Carmen Suárez; Raffaele Izzo; Dong Zhao; Thapat Wannarong; Alberico L. Catapano; Pierre Ducimetière; Christine Espinola-Klein; Kuo-Liong Chien; Jackie F. Price; Göran Bergström; Jussi Kauhanen; Elena Tremoli; Marcus Dörr; Gerald S. Berenson; Kazuo Kitagawa; Jacqueline M. Dekker; Stefan Kiechl; Matthias Sitzer; Horst Bickel; Tatjana Rundek; Albert Hofman; Ellisiv B. Mathiesen; Samuela Castelnuovo; Manuel F. Landecho; Maria Rosvall; Rafael Gabriel; Nicola De Luca; Jing Liu; Damiano Baldassarre; Maryam Kavousi; Eric de Groot; Michiel L. Bots; David Yanez; Simon G. Thompson;handle: 10171/66133 , 20.500.12105/6446 , 1874/377042 , 1765/105848 , 20.500.11820/356d6f52-842c-4a84-b401-c2b08af16ce5 , 11588/717322 , 20.500.12530/37095 , 2434/570170
pmc: PMC5896895 , PMC6147579
AIMS: Carotid intima media thickness (CIMT) predicts cardiovascular (CVD) events, but the predictive value of CIMT change is debated. We assessed the relation between CIMT change and events in individuals at high cardiovascular risk. METHODS AND RESULTS: From 31 cohorts with two CIMT scans (total n = 89070) on average 3.6 years apart and clinical follow-up, subcohorts were drawn: (A) individuals with at least 3 cardiovascular risk factors without previous CVD events, (B) individuals with carotid plaques without previous CVD events, and (C) individuals with previous CVD events. Cox regression models were fit to estimate the hazard ratio (HR) of the combined endpoint (myocardial infarction, stroke or vascular death) per standard deviation (SD) of CIMT change, adjusted for CVD risk factors. These HRs were pooled across studies. In groups A, B and C we observed 3483, 2845 and 1165 endpoint events, respectively. Average common CIMT was 0.79mm (SD 0.16mm), and annual common CIMT change was 0.01mm (SD 0.07mm), both in group A. The pooled HR per SD of annual common CIMT change (0.02 to 0.43mm) was 0.99 (95% confidence interval: 0.95-1.02) in group A, 0.98 (0.93-1.04) in group B, and 0.95 (0.89-1.04) in group C. The HR per SD of common CIMT (average of the first and the second CIMT scan, 0.09 to 0.75mm) was 1.15 (1.07-1.23) in group A, 1.13 (1.05-1.22) in group B, and 1.12 (1.05-1.20) in group C. CONCLUSIONS: We confirm that common CIMT is associated with future CVD events in individuals at high risk. CIMT change does not relate to future event risk in high-risk individuals. The PROG-IMT project, which includes this publication, has been funded by the German Research Foundation (Deutsche Forschungsgemeinschaft, www.dfg.de) under the grants DFG Lo 1569/2-1 and DFG Lo 1569/2-3, received by MWL. The DFG had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Simon Thompson is supported by the British heart Foundation (CH/12/2/29428). Some of the contributing studies were funded by different parties, as listed in the acknowledgement section. Here, too, the funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Sí
Archivio Istituziona... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAPLoS ONE; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: CC BYHochschulschriftenserver - Universität Frankfurt am MainArticle . 2018Data sources: Hochschulschriftenserver - Universität Frankfurt am MainRecolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1371/journal.pone.0191172&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu60 citations 60 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 5visibility views 5 download downloads 13 Powered bymore_vert Archivio Istituziona... arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAPLoS ONE; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: CC BYHochschulschriftenserver - Universität Frankfurt am MainArticle . 2018Data sources: Hochschulschriftenserver - Universität Frankfurt am MainRecolector de Ciencia Abierta, RECOLECTAArticle . 2018Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1371/journal.pone.0191172&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2021 United Kingdom, Spain, Canada, ItalyProceedings of the National Academy of Sciences UKRI | Genomic imprinting and th..., WTUKRI| Genomic imprinting and the epigenetic control of developmental processes ,WTRaquel Montalbán-Loro; Glenda Lassi; Anna Lozano-Ureña; Ana Perez-Villalba; Esteban Jiménez-Villalba; Marika Charalambous; Giorgio Vallortigara; Alexa E. Horner; Lisa M. Saksida; Timothy J. Bussey; José Luis Trejo; Valter Tucci; Anne C. Ferguson-Smith; Sacri R. Ferrón;Neurogenesis in the adult brain gives rise to functional neurons, which integrate into neuronal circuits and modulate neural plasticity. Sustained neurogenesis throughout life occurs in the subgranular zone (SGZ) of the dentate gyrus in the hippocampus and is hypothesized to be involved in behavioral/cognitive processes such as memory and in diseases. Genomic imprinting is of critical importance to brain development and normal behavior, and exemplifies how epigenetic states regulate genome function and gene dosage. While most genes are expressed from both alleles, imprinted genes are usually expressed from either the maternally or the paternally inherited chromosome. Here, we show that in contrast to its canonical imprinting in nonneurogenic regions, Delta-like homolog 1 (Dlk1) is expressed biallelically in the SGZ, and both parental alleles are required for stem cell behavior and normal adult neurogenesis in the hippocampus. To evaluate the effects of maternally, paternally, and biallelically inherited mutations within the Dlk1 gene in specific behavioral domains, we subjected Dlk1-mutant mice to a battery of tests that dissociate and evaluate the effects of Dlk1 dosage on spatial learning ability and on anxiety traits. Importantly, reduction in Dlk1 levels triggers specific cognitive abnormalities that affect aspects of discriminating differences in environmental stimuli, emphasizing the importance of selective absence of imprinting in this neurogenic niche. This work was supported by grants from Ministerio de Economía y Competitividad (SAF2016-78845-R and PID2019-110045GB-I00), Fundación Banco Bilbao Vizcaya Argentaria, and Generalitat Valenciana (AICO/2020/367) to S.R.F. and grants from the Medical Research Council (MR/R009791/1), Wellcome Trust (21757/Z/18/Z), and European Union FP7 Ingenium Training Network to A.C.F.-S. R.M.-L. was funded by a Spanish Researchers Formation program, and A.L.-U. was fundedby the Generalitat Valenciana fellowship program.
IRIS - Institutional... arrow_drop_down Proceedings of the National Academy of SciencesArticle . 2021License: CC BY NC NDData sources: CrossrefRecolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021Recolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021 . 2022add 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=10.1073/pnas.2015505118&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu14 citations 14 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 32visibility views 32 download downloads 119 Powered bymore_vert IRIS - Institutional... arrow_drop_down Proceedings of the National Academy of SciencesArticle . 2021License: CC BY NC NDData sources: CrossrefRecolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021Recolector de Ciencia Abierta, RECOLECTA; DIGITAL.CSICArticle . 2021 . 2022add 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=10.1073/pnas.2015505118&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2018 Sweden, Netherlands, Canada, Italy, Italy, SwitzerlandAmerican Medical Association (AMA) Knip M.; Akerblom H. K.; Altaji E.; Becker D.; Bruining J.; Castano L.; Danne T.; De Beaufort C.; Dosch H. -M.; Dupre J.; Fraser W. D.; Howard N.; Ilonen J.; Konrad D.; Kordonouri O.; Krischer J. P.; Lawson M. L.; Ludvigsson J.; Madacsy L.; Mahon J. L.; Ormisson A.; Palmer J. P.; Pozzilli P.; Savilahti E.; Serrano-Rios M.; Songini M.; Taback S.; Vaarala O.; White N. H.; Virtanen S. M.; Wasikowa R.; Mandrup-Poulsen T.; Arjas E.; Lernmark A.; Laara E.; Schmidt B.; Hyytinen M.; Koski K.; Koski M.; Merentie K.; Pajakkala E.; Reunanen A.; Salonen M.; Terhonen T.; Virkkunen S.; Cuthbertson D.; Gainer B.; Hadley D.; Malloy J.; Nallamshetty L.; Shanker L.; Bradley B.; Lough G.; Fraser W.; Sermer M.; Taback S. P.; Franciscus M.; Nucci A.; Palmer J.; Alahuhta K.; Barlund S.; Korhonen T.; Kovanen L.; Lehtonen E.; Niinisto S.; Pekkala M.; Sorkio S.; Toivanen L.; Vahatalo L.; Uusitalo U.; Ohman T.; Bongiorno R.; Catteau J.; Fraser G.; Lloyd M.; Crock P.; Giles M.; Siech K.; See D. W.; Brown C.; Craig M.; Johnston A.; Bere L. J.; Clarson C. L.; Jenner M.; McManus R.; Renato N.; Lovell M.; Higo D.; Kent N.; Kwan J.; Marshall C.; Metzger D.; Chanoine J. -P.; Stewart L.; Thompson D.; Edwards A.; Lange I.; Mercer J.; Pacaud D.; Josephine H.; Schwarz W.; Stephure D. K.; Boer J.; Chatur T.; Chick C.; Couch B.; Demianczuk N.; Girgis R.; Marks S.; Ryan E.; Thompson M.; Dean H. J.; Grant L.; Hamelin K.; LaForte J.; Murphy L.; Catte D.; Schneider C.; Sellers E. A. C.; Woo V.; Boland A.; Clark H. D.; Cooper T.; Gruslin A.; Karovitch A.; Keely E.; Malcolm J. C.; Sauro V.; Tawagi G. F.; Andrighetti S.; Arnold G.; Barrett J.; Blumer I.; Daneman D.; Donat D.; Ehrlich R.; Feig D.; Gottesman I.; Gysler M.; Karkanis S.; Kenshole A.; Knight B.; Lackie E.; Lewis V.; Martin M. J.; Maxwell C.; Oliver G.; Panchum P.; Shilletto N.; Simone A.; Skidmore M.; Turrini T.; Wong S.; Allen C.; Belanger L.; Bouchard I.; Ferland S.; Frenette L.; Garrido-Russo M.; Leblanc M.; Imbeault J.; Morin V.; Olivier G.; Weisnagell J.; Costain G.; Dornan J.; Heath K.; MacSween M. -C.; McGibbon A.; Ramsay C.; Sanderson F.; Sanderson S.; Benabdesselam L.; Gonthier M.; Huot C.; Thibeault M.; Laforte D.; Legault L.; Perron P.; Armson A.; Canning P.; Cummings E. A.; Ivanko V.; McLeod L.; Mokashi A.; Scott K.; Bridger T.; Crane J.; Crummell C.; Curtis J. C.; Dawson C.; Joyce C.; Newhook L. A.; Newman S.; Druken E.; Begum-Hasan J.; Breen A.; Houlden R.; Woods M.; Tillmann V.; Biester T.; Giordano C.; Khazrai Y. M.; Maddaloni E.; Pitocco D.; Tabacco G.; Mannu C.; Basiak A.; Wikiera B.; Szadkowska A.; Bilbao J. R.; Fernandez B. H.; Luis J. L.;IMPORTANCE Early exposure to complex dietary proteins may increase the risk of type 1 diabetes in children with genetic disease susceptibility. There are no intact proteins in extensively hydrolyzed formulas. OBJECTIVE To test the hypothesis that weaning to an extensively hydrolyzed formula decreases the cumulative incidence of type 1 diabetes in young children. DESIGN, SETTING, AND PARTICIPANTS An international double-blind randomized clinical trial of 2159 infants with human leukocyte antigen-conferred disease susceptibility and a first-degree relative with type 1 diabetes recruited from May 2002 to January 2007 in 78 study centers in 15 countries; 1081 were randomized to be weaned to the extensively hydrolyzed casein formula and 1078 to a conventional formula. The follow-up of the participants ended on February 28, 2017. INTERVENTIONS The participants received either a casein hydrolysate or a conventional adapted cows milk formula supplemented with 20% of the casein hydrolysate. The minimum duration of study formula exposure was 60 days by 6 to 8 months of age. MAIN OUTCOMES AND MEASURES Primary outcome was type 1 diabetes diagnosed according to World Health Organization criteria. Secondary outcomes included age at diabetes diagnosis and safety (adverse events). RESULTS Among 2159 newborn infants (1021 female [47.3%]) who were randomized, 1744 (80.8%) completed the trial. The participants were observed for a median of 11.5 years (quartile [Q] 1-Q3, 10.2-12.8). The absolute risk of type 1 diabetes was 8.4% among those randomized to the casein hydrolysate (n = 91) vs 7.6% among those randomized to the conventional formula (n = 82) (difference, 0.8%[95% CI, -1.6% to 3.2%]). The hazard ratio for type 1 diabetes adjusted for human leukocyte antigen risk group, duration of breastfeeding, duration of study formula consumption, sex, and region while treating study center as a random effect was 1.1 (95% CI, 0.8 to 1.5; P = .46). The median age at diagnosis of type 1 diabetes was similar in the 2 groups (6.0 years [Q1-Q3, 3.1-8.9] vs 5.8 years [Q1-Q3, 2.6-9.1]; difference, 0.2 years [95% CI, -0.9 to 1.2]). Upper respiratory infections were the most common adverse event reported (frequency, 0.48 events/year in the hydrolysate group and 0.50 events/year in the control group). CONCLUSIONS AND RELEVANCE Among infants at risk for type 1 diabetes, weaning to a hydrolyzed formula compared with a conventional formula did not reduce the cumulative incidence of type 1 diabetes after median follow-up for 11.5 years. These findings do not support a need to revise the dietary recommendations for infants at risk for type 1 diabetes. Funding Agencies|Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD); National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health [HD040364, HD042444, HD051997]; Canadian Institutes of Health Research; Commission of the European Communities [QLK1-2002-00372]; European Foundation for the Study of Diabates/JDRF/Novo Nordisk; Academy of Finland (Centre of Excellence in Molecular Systems Immunology and Physiology Research) [250114]; Dutch Diabetes Research Foundation; Finnish Diabetes Research Foundation; JDRF
Archivio istituziona... arrow_drop_down Zurich Open Repository and ArchiveOther literature type . 2018Data sources: Zurich Open Repository and Archiveadd 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=10.1001/jama.2017.19826&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu101 citations 101 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!more_vert Archivio istituziona... arrow_drop_down Zurich Open Repository and ArchiveOther literature type . 2018Data sources: Zurich Open Repository and Archiveadd 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=10.1001/jama.2017.19826&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 Italy, Italy, CanadaCold Spring Harbor Laboratory Maria Teresa Borrello; Maria Rita Emma; Angela Listi; Marion Rubis; Sergiu Coslet; Giuseppa Augello; Antonella Cusimano; Daniela Cabibi; Rossana Porcasi; Lydia Giannitrapani; Maurizio Soresi; Gianni Pantuso; Karen Blyth; Giuseppe Montalto; Christopher L. Pin; Melchiorre Cervello; Juan L. Iovanna;pmid: 34033141
AbstractBackground and AimsNon-alcoholic fatty liver disease and related hepatic syndromes affect up to one third of the adult population. The molecular mechanisms underlying NAFL etiology remain elusive. Nuclear Protein 1 (NUPR1) expression increases upon cell injury in all organs and recently we report its active participation in the activation of the Unfolded Protein Response (UPR). The UPR typically maintains protein homeostasis, but downstream mediators of the pathway regulate metabolic functions, including lipid metabolism. NUPR1 and UPR increase have been reported in obesity and liver pathologies and the goal of this study was to investigate the roles of NUPR1 in this context.MethodsWe used patient-derived liver biopsies andin vitroandin vivoNUPR1 loss of functions models. First, we analysed NUPR1 expression in a cohort of morbidly obese patients (MOPs), with either simple fatty liver (NAFL) or more severe steatohepatitis (NASH). Next, we explored the metabolic roles of NUPR1 in wild type (Nupr1+/+) orNupr1knockout mice (Nupr1-/-) fedad libitumwith a high fat diet (HFD) for up to 15 weeks.ResultsNUPR1 expression is inversely correlated to hepatic steatosis progression. We found that NUPR1 participates in the activation of PPAR-α signalling via UPR. PPAR-α signalling, is involved in the maintenance of fat metabolism and proper lipid homeostasis and energy balance. As PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.ObjectiveNon-alcoholic fatty liver (NAFL) disease and related hepatic syndromes affect up to one third of the adult population in industrialised and developing countries. However, the molecular mechanisms underlying NAFL etiology remain elusive. Nuclear Protein 1 (NUPR1) expression increases upon cell injury in all organs including the liver. Recently, we report NUPR1 actively participates in activation of the Unfolded Protein Response (UPR). The UPR typically maintains protein homeostasis, but downstream mediators of the pathway regulate metabolic functions, including lipid metabolism. NUPR1 and UPR increase have been reported in obesity and liver pathologies and the goal of this study was to investigate the roles of NUPR1 in this context.DesignWe used patient-derived liver biopsies andin vitroandin vivoNUPR1 loss of functions models. First, we analysed NUPR1 expression in a cohort of morbidly obese patients (MOPs), with either simple fatty liver (NAFL) or more severe steatohepatitis (NASH). Next, we explored the metabolic roles of NUPR1 in wild type (Nupr1+/+) orNupr1knockout mice (Nupr1-/-) fedad libitumwith a high fat diet (HFD) for up to 15 weeks.ResultsNUPR1 expression is inversely correlated to hepatic steatosis progression. Mechanistically, we found NUPR1 participates in the activation of PPAR-α signalling via UPR. PPAR-α signalling, is involved in the maintenance of fat metabolism and proper lipid homeostasis and energy balance. As PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.ConclusionsAs PPAR-α signalling is controlled by UPR, collectively, these findings suggest a novel function for NUPR1 in protecting liver from metabolic distress by controlling lipid homeostasis, possibly through the UPR.Lay summaryNUPR1 is activated during high caloric intake in both mice and patients. Decrease in expression or inhibition of NUPR1 worsens lipid deposition and hepatic damage.Graphical abstractHighlightsNUPR1 protects liver from high caloric intake hepatic damageThe function of NUPR1 in this context is to control the lipid homeostasis through the UPR and more specifically through PPAR-α signalling.NUPR1 could be used as a predictive marker for the gravity of NAFL progression. Moreover, as clinical interest is being raised around NUPR1 inhibitors to treat liver and pancreatic cancer, care should be taken in monitoring lipotoxic parameters.
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=10.1101/2020.10.23.350652&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4 citations 4 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.
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=10.1101/2020.10.23.350652&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 Canada, DenmarkHindawi Limited Authors: José Miguel Rivera-Caravaca; Iván J. Núñez-Gil; Gregory Y. H. Lip; Aitor Uribarri; +27 AuthorsJosé Miguel Rivera-Caravaca; Iván J. Núñez-Gil; Gregory Y. H. Lip; Aitor Uribarri; María C. Viana-Llamas; Adelina Gonzalez; Alex F. Castro-Mejía; Berta Alonso González; Emilio Alfonso; Juan Fortunato García Prieto; Chiara Cavallino; Bernardo Cortese; Gisela Feltes; Inmaculada Fernández-Rozas; Jaime Signes-Costa; Jia Huang; Marcos García Aguado; Martino Pepe; Rodolfo Romero; Enrico Cerrato; Víctor Manuel Becerra-Muñoz; Sergio Raposeiras Roubin; Francesco Santoro; Rodrigo Bagur; Luciano Sposato; Ibrahim El-Battrawy; Alvaro López Masjuan; Antonio Fernandez-Ortiz; Vicente Estrada; Carlos Macaya; Francisco Marín;Background. Most evidence regarding anticoagulation and COVID-19 refers to the hospitalization setting, but the role of oral anticoagulation (OAC) before hospital admission has not been well explored. We compared clinical outcomes and short-term prognosis between patients with and without prior OAC therapy who were hospitalized for COVID-19. Methods. Analysis of the whole cohort of the HOPE COVID-19 Registry which included patients discharged (deceased or alive) after hospital admission for COVID-19 in 9 countries. All-cause mortality was the primary endpoint. Study outcomes were compared after adjusting variables using propensity score matching (PSM) analyses. Results. 7698 patients were suitable for the present analysis (675 (8.8%) on OAC at admission: 427 (5.6%) on VKAs and 248 (3.2%) on DOACs). After PSM, 1276 patients were analyzed (638 with OAC; 638 without OAC), without significant differences regarding the risk of thromboembolic events (OR 1.11, 95% CI 0.59–2.08). The risk of clinically relevant bleeding (OR 3.04, 95% CI 1.92–4.83), as well as the risk of mortality (HR 1.22, 95% CI 1.01–1.47; log-rank p value = 0.041), was significantly increased in previous OAC users. Amongst patients on prior OAC only, there were no differences in the risk of clinically relevant bleeding, thromboembolic events, or mortality when comparing previous VKA or DOAC users, after PSM. Conclusion. Hospitalized COVID-19 patients on prior OAC therapy had a higher risk of mortality and worse clinical outcomes compared to patients without prior OAC therapy, even after adjusting for comorbidities using a PSM. There were no differences in clinical outcomes in patients previously taking VKAs or DOACs. This trial is registered with NCT04334291/EUPAS34399.
VBN; Aalborg Univers... arrow_drop_down VBN; Aalborg University Research PortalArticle . 2022Repositorio Institucional de Salud de Andalucía - Andalusian Health RepositoryArticle . 2022License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2022Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1155/2022/7325060&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert VBN; Aalborg Univers... arrow_drop_down VBN; Aalborg University Research PortalArticle . 2022Repositorio Institucional de Salud de Andalucía - Andalusian Health RepositoryArticle . 2022License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2022Data sources: Recolector de Ciencia Abierta, RECOLECTAadd 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=10.1155/2022/7325060&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Canada, Norway, Portugal, United Kingdom, Netherlands, Poland, Spain, Australia, Portugal, Norway, United KingdomMassachusetts Medical Society Ashkan Afshin; Mohammad H. Forouzanfar; Marissa B Reitsma; Patrick J Sur; Kara Estep; Alexander Lee; Laurie B. Marczak; Ali H. Mokdad; Maziar Moradi-Lakeh; Mohsen Naghavi; Joseph Salama; Theo Vos; Kalkidan Hassen Abate; Cristiana Abbafati; Muktar Beshir Ahmed; Ziad Al-Aly; Ala'a Alkerwi; Rajaa Al-Raddadi; Azmeraw T. Amare; Alemayehu Amberbir; Adeladza Kofi Amegah; Erfan Amini; Stephen M. Amrock; Ranjit Mohan Anjana; Johan Ärnlöv; Hamid Asayesh; Amitava Banerjee; Aleksandra Barac; Estifanos Baye; Derrick A Bennett; Addisu Shunu Beyene; Sibhatu Biadgilign; Stan Biryukov; Espen Bjertness; Dube Jara Boneya; Ismael R. Campos-Nonato; Juan Jesus Carrero; Pedro Cecilio; Kelly Cercy; Liliana G Ciobanu; Leslie Cornaby; Solomon Abrha Damtew; Lalit Dandona; Rakhi Dandona; Samath D Dharmaratne; Bruce Bartholow Duncan; Babak Eshrati; Alireza Esteghamati; Valery L. Feigin; João C. Fernandes; Thomas Fürst; Tsegaye Tewelde Gebrehiwot; Audra L Gold; Philimon Gona; Atsushi Goto; Tesfa Dejenie Habtewold; Kokeb T. Hadush; Nima Hafezi-Nejad; Simon I. Hay; Masako Horino; Farhad Islami; Ritul Kamal; Amir Kasaeian; Srinivasa Vittal Katikireddi; Andre Pascal Kengne; Chandrasekharan Nair Kesavachandran; Yousef Khader; Young-Ho Khang; Jagdish Khubchandani; Daniel Kim; Yun Jin Kim; Yohannes Kinfu; Soewarta Kosen; Tiffany Ku; Barthelemy Kuate Defo; Anil Kumar; Heidi J. Larson; Mall Leinsalu; Xiaofeng Liang; Stephen S Lim; Patrick Liu; Alan D. Lopez; Rafael Lozano; Azeem Majeed; Reza Malekzadeh; Deborah Carvalho Malta; Mohsen Mazidi; Colm McAlinden; Stephen T. McGarvey; Desalegn Tadese Mengistu; George A. Mensah; Gert B. M. Mensink; Haftay Berhane Mezgebe; Erkin M. Mirrakhimov; Ulrich O Mueller; Jean Jacques Noubiap; Carla Makhlouf Obermeyer; Felix Akpojene Ogbo; Mayowa O. Owolabi; George C Patton; Farshad Pourmalek; Mostafa Qorbani; Anwar Rafay; Rajesh Kumar Rai; Chhabi Lal Ranabhat; Nikolas Reinig; Saeid Safiri; Joshua A. Salomon; Juan Sanabria; Itamar S. Santos; Benn Sartorius; Monika Sawhney; Josef Schmidhuber; Aletta E. Schutte; Maria Inês Schmidt; Sadaf G. Sepanlou; Moretza Shamsizadeh; Sara Sheikhbahaei; Min Jeong Shin; Rahman Shiri; Ivy Shiue; Hirbos Shore Roba; Diego Augusto Santos Silva; Jonathan I. Silverberg; Jasvinder A. Singh; Saverio Stranges; Soumya Swaminathan; Rafael Tabarés-Seisdedos; Fentaw Tadese; Bemnet Amare Tedla; Balewgizie Sileshi Tegegne; Abdullah Sulieman Terkawi; Jarnail Singh Thakur; Marcello Tonelli; Roman Topor-Madry; Stefanos Tyrovolas; Kingsley N. Ukwaja; Olalekan A. Uthman; Masoud Vaezghasemi; Tommi Vasankari; Vasiliy Victorovich Vlassov; Stein Emil Vollset; Elisabete Weiderpass; Andrea Werdecker; Joshua Wesana; Ronny Westerman; Yuichiro Yano; Naohiro Yonemoto; Gerald Yonga; Zoubida Zaidi; Zerihun Menlkalew Zenebe; Ben Zipkin; Christopher J L Murray;pmc: PMC5477817
pmid: 28604169
Source at: http://doi.org/10.1056/NEJMoa1614362 Background: Although the rising pandemic of obesity has received major attention in many countries, the effects of this attention on trends and the disease burden of obesity remain uncertain. Methods: We analyzed data from 68.5 million persons to assess the trends in the prevalence of overweight and obesity among children and adults between 1980 and 2015. Using the Global Burden of Disease study data and methods, we also quantified the burden of disease related to high body-mass index (BMI), according to age, sex, cause, and BMI in 195 countries between 1990 and 2015. Restults: In 2015, a total of 107.7 million children and 603.7 million adults were obese. Since 1980, the prevalence of obesity has doubled in more than 70 countries and has continuously increased in most other countries. Although the prevalence of obesity among children has been lower than that among adults, the rate of increase in childhood obesity in many countries has been greater than the rate of increase in adult obesity. High BMI accounted for 4.0 million deaths globally, nearly 40% of which occurred in persons who were not obese. More than two thirds of deaths related to high BMI were due to cardiovascular disease. The disease burden related to high BMI has increased since 1990; however, the rate of this increase has been attenuated owing to decreases in underlying rates of death from cardiovascular disease. Conclusions: The rapid increase in the prevalence and disease burden of elevated BMI highlights the need for continued focus on surveillance of BMI and identification, implementation, and evaluation of evidence-based interventions to address this problem.
Europe PubMed Centra... arrow_drop_down NARCIS; New England Journal of MedicineArticle . 2017Oxford University Research Archive; New England Journal of MedicineOther literature type . Article . 2017Norwegian Institute of Public Health Open RepositoryArticle . 2017Data sources: Norwegian Institute of Public Health Open RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryRepositório Institucional da Universidade Católica PortuguesaOther literature type . 2017add 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=10.1056/nejmoa1614362&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu4K citations 4,117 popularity Top 0.01% influence Top 0.1% impulse Top 0.01% Powered by BIP!visibility 938visibility views 938 download downloads 3,714 Powered bymore_vert Europe PubMed Centra... arrow_drop_down NARCIS; New England Journal of MedicineArticle . 2017Oxford University Research Archive; New England Journal of MedicineOther literature type . Article . 2017Norwegian Institute of Public Health Open RepositoryArticle . 2017Data sources: Norwegian Institute of Public Health Open RepositorySpiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryRepositório Institucional da Universidade Católica PortuguesaOther literature type . 2017add 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=10.1056/nejmoa1614362&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2017 Canada, NorwayMDPI AG Ala'a Alkerwi; Illiasse El Bahi; Saverio Stranges; Jean Beissel; Charles Delagardelle; Stephanie Noppe; Ngianga-Bakwin Kandala;Cardiovascular disease (CVD) and associated behavioural and metabolic risk factors constitute a major public health concern at a global level. Many reports worldwide have documented different risk profiles for populations with demographic variations. The objective of this study was to examine geographic variations in the top leading cardio metabolic and behavioural risk factors in Luxembourg, in order to provide an overall picture of CVD burden across the country. The analysis conducted was based on data from the nationwide ORISCAV-LUX survey, including 1432 subjects, aged 18-69 years. A self-reported questionnaire, physical examination and blood sampling were performed. Age and sex-adjusted risk profile maps were generated using multivariate Bayesian geo-additive regression models, based on Markov Chain Monte Carlo techniques and were used to evaluate the significance of the spatial effects on the distribution of a range of cardio metabolic risk factors, namely smoking, high body mass index (BMI), high blood pressure, high fasting plasma glucose, alcohol use, high total cholesterol, low glomerular filtration rate, and physical inactivity. Higher prevalence of smoking was observed in the northern regions, higher overweight/obesity and abdominal obesity clustered in the central belt, whereas hypertension was spotted particularly in the southern part of the country. Maps revealed that subjects residing in Luxembourg canton were significantly less likely to be hypertensive or overweight/obese, whereas they were less likely to practice physical activity of ≥8000 Metabolic Equivalent of Task (MET)-min/week. These patterns were also observed at the municipality level in Luxembourg. Statistically, there were non-significant spatial patterns regarding smoking, diabetes, total serum cholesterol and low glomerular filtration rate risk distribution. This comprehensive risk profile mapping showed remarkable geographic variations in cardio metabolic and behavioural risk factors. Considering the prominent burden of CVD this research provides opportunities for tailored interventions and may help to better fight against this escalating public health problem. nivå1
International Journa... arrow_drop_down International Journal of Environmental Research and Public HealthOther literature type . Article . 2017License: CC BYInternational Journal of Environmental Research and Public HealthArticleLicense: CC BYData sources: UnpayWalladd 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=10.3390/ijerph14060648&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 2visibility views 2 download downloads 45 Powered bymore_vert International Journa... arrow_drop_down International Journal of Environmental Research and Public HealthOther literature type . Article . 2017License: CC BYInternational Journal of Environmental Research and Public HealthArticleLicense: CC BYData sources: UnpayWalladd 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=10.3390/ijerph14060648&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaOxford University Press (OUP) UKRI | Biological mechanisms und..., CIHRUKRI| Biological mechanisms underlying the onset and outcome of cannabis-associated psychosis. ,CIHROlesya Ajnakina; Tushar Das; John Lally; Marta Di Forti; Carmine M. Pariante; Tiago Reis Marques; Valeria Mondelli; Anthony S. David; Robin M. Murray; Lena Palaniyappan; Paola Dazzan;AbstractTreatment resistance (TR) in patients with first-episode psychosis (FEP) is a major cause of disability and functional impairment, yet mechanisms underlying this severe disorder are poorly understood. As one view is that TR has neurodevelopmental roots, we investigated whether its emergence relates to disruptions in synchronized cortical maturation quantified using gyrification-based connectomes. Seventy patients with FEP evaluated at their first presentation to psychiatric services were followed up using clinical records for 4 years; of these, 17 (24.3%) met the definition of TR and 53 (75.7%) remained non-TR at 4 years. Structural MRI images were obtained within 5 weeks from first exposure to antipsychotics. Local gyrification indices were computed for 148 contiguous cortical regions using FreeSurfer; each subject’s contribution to group-based structural covariance was quantified using a jack-knife procedure, providing a single deviation matrix for each subject. The latter was used to derive topological properties that were compared between TR and non-TR patients using a Functional Data Analysis approach. Compared to the non-TR patients, TR patients showed a significant reduction in small-worldness (Hedges’s g = 2.09, P < .001) and a reduced clustering coefficient (Hedges’s g = 1.07, P < .001) with increased length (Hedges’s g = −2.17, P < .001), indicating a disruption in the organizing principles of cortical folding. The positive symptom burden was higher in patients with more pronounced small-worldness (r = .41, P = .001) across the entire sample. The trajectory of synchronized cortical development inferred from baseline MRI-based structural covariance highlights the possibility of identifying patients at high-risk of TR prospectively, based on individualized gyrification-based connectomes.
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=10.1093/schbul/sbab035&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu14 citations 14 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.
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=10.1093/schbul/sbab035&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu