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description Publicationkeyboard_double_arrow_right Article , Other literature type 2022 CanadaFrontiers Media SA NIH | ARTFL LEFFTDS Longitudina..., CIHRNIH| ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) ,CIHRAuthors: Spyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; +16 AuthorsSpyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; Virginija Karrenbauer; Virginija Karrenbauer; David S. Lynch; Matthew Brennan; Samantha Zappia; Wolfgang Koehler; Ludger Schoels; Ludger Schoels; Stefanie N. Hayer; Stefanie N. Hayer; Takuya Konno; Takeshi Ikeuchi; Troy Lund; Jennifer Orthmann-Murphy; Florian Eichler; Zbigniew K. Wszolek;A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
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For further information contact us at helpdesk@openaire.eu22 citations 22 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Canada, France, France, SpainSAGE Publications NIH | UNC Clinical and Translat..., CIHRNIH| UNC Clinical and Translational Science Award ,CIHREvenson, Kelly R.; Barakat, Ruben; Brown, Wendy J.; Dargent-Molina, Patricia; Haruna, Megumi; Mikkelsen, Ellen M.; Mottola, Michelle F.; Owe, Katrine M.; Kim, Emily K.; Al-Judaibi, Bandar; Schwarz, Ute I.; Ramji, Alnoor; Tam, Edward; Ross, Colin J.; Carleton, Bruce C.;INTRODUCTION: Women attain numerous benefits from physical activity during pregnancy. However, due to physical changes that occur during pregnancy, special precautions are also needed. This review summarizes current guidelines for physical activity among pregnant women worldwide.METHODS: We searched PubMed (MedLINE) for country-specific governmental and clinical guidelines on physical activity during pregnancy through the year 2012. We cross-referenced with articles referring to guidelines, with only the most recent included. An abstraction form was used to extract key details and summarize.RESULTS: In total, 11 guidelines were identified from nine countries (Australia, Canada, Denmark, France, Japan, Norway, Spain, United Kingdom, United States). Most guidelines supported moderate intensity physical activity during pregnancy (10/11) and indicated specific frequency (9/11) and duration/time (9/11) recommendations. Most guidelines provided advice on initiating an exercise program during pregnancy (10/11). Six guidelines included absolute and relative contraindications to exercise. All guidelines generally ruled-out sports with risks of falls, trauma, or collisions. Six guidelines included indications for stopping exercise during pregnancy.CONCLUSION: This review contrasted pregnancy-related physical activity guidelines from around the world, and can help to inform new guidelines as they are created or updated, and facilitate the development of a worldwide guideline.
Archivo Digital UPM arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2014License: CC BY NC NDData sources: Recolector de Ciencia Abierta, RECOLECTAAmerican Journal of Lifestyle Medicine; PURE Aarhus UniversityArticle . 2013 . 2014License: SAGE TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu226 citations 226 popularity Top 1% influence Top 1% impulse Top 10% Powered by BIP!more_vert Archivo Digital UPM arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2014License: CC BY NC NDData sources: Recolector de Ciencia Abierta, RECOLECTAAmerican Journal of Lifestyle Medicine; PURE Aarhus UniversityArticle . 2013 . 2014License: SAGE TDMadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015 CanadaPublic Library of Science (PLoS) WT | Learning and recovery of ..., NIH | Mapping the Human Connect...WT| Learning and recovery of skilled finger movements. ,NIH| Mapping the Human Connectome: Structure, Function, and HeritabilityAuthors: Diedrichsen, Jörn; Zotow, Ewa;Diedrichsen, Jörn; Zotow, Ewa;The paper presents a flat representation of the human cerebellum, useful for visualizing functional imaging data after volume-based normalization and averaging across subjects. Instead of reconstructing individual cerebellar surfaces, the method uses a white- and greymatter surface defined on volume-averaged anatomical data. Functional data can be projected along the lines of corresponding vertices on the two surfaces. The flat representation is optimized to yield a roughly proportional relationship between the surface area of the 2Drepresentation and the volume of the underlying cerebellar grey matter. The map allows users to visualize the activation state of the complete cerebellar grey matter in one concise view, equally revealing both the anterior-posterior (lobular) and medial-lateral organization. As examples, published data on resting-state networks and task-related activity are presented on the flatmap. The software and maps are freely available and compatible with most major neuroimaging packages. Copyright:
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For further information contact us at helpdesk@openaire.eu202 citations 202 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 CanadaFrontiers Media SA NIH | Molecular Mechanisms Regu...NIH| Molecular Mechanisms Regulating Placental Nutrient TransportersFredrick J. Rosario; Theresa L. Powell; Theresa L. Powell; Madhulika B. Gupta; Laura Cox; Thomas Jansson;Mechanistic Target of Rapamycin Complex 1 (mTORC1) serves as positive regulator of placental nutrient transport and mitochondrial respiration. The role of mTORC1 signaling in modulating other placental functions is largely unexplored. We used gene array following silencing of raptor to identify genes regulated by mTORC1 in primary human trophoblast (PHT) cells. Seven hundred and thirty-nine genes were differentially expressed; 487 genes were down-regulated and 252 up-regulated. Bioinformatic analyses demonstrated that inhibition of mTORC1 resulted in decreased expression of genes encoding ribosomal proteins in the 60S and 40S ribosome subunits. Furthermore, down-regulated genes were functionally enriched in genes involved in eIF2, sirtuin and mTOR signaling, mitochondrial function, and glutamine and zinc transport. Stress response genes were enriched among up-regulated genes following mTORC1 inhibition. The protein expression of ribosomal proteins RPL26 (RPL26) and Ribosomal Protein S10 (RPS10) was decreased and positively correlated to mTORC1 signaling and System A amino acid transport in human placentas collected from pregnancies complicated by intrauterine growth restriction (IUGR). In conclusion, mTORC1 signaling regulates the expression of trophoblast genes involved in ribosome and protein synthesis, mitochondrial function, lipid metabolism, nutrient transport, and angiogenesis, representing novel links between mTOR signaling and multiple placental functions critical for normal fetal growth and development.
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For further information contact us at helpdesk@openaire.eu20 citations 20 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2020 Finland, Netherlands, Canada, ItalyOvid Technologies (Wolters Kluwer Health) NIH | University of Utah Center..., NIH | University of Utah Center..., NIH | University of Utah Center...NIH| University of Utah Center for Clinical and Translational Science-UL1 ,NIH| University of Utah Center for clinical and Translational Science ,NIH| University of Utah Center for Clinical and Translational Science-UL1Mark Deneau; Cara L. Mack; Emily R. Perito; Amanda Ricciuto; Pamela L. Valentino; Mansi Amin; Achiya Z. Amir; Madeleine Aumar; Marcus Auth; Annemarie Broderick; Matthew DiGuglielmo; Laura G. Draijer; Eleonora Druve Tavares Fagundes; Wael El-Matary; Federica Ferrari; Katryn N. Furuya; Nitika A. Gupta; Jessica T. Hochberg; Matjaz Homan; Simon Horslen; Raffaele Iorio; M. Kyle Jensen; Maureen M. Jonas; Binita M. Kamath; Nanda Kerkar; Kyung Mo Kim; Kaija-Leena Kolho; Bart G. P. Koot; Trevor J. Laborda; Christine K. Lee; Kathleen M. Loomes; Mercedes Martinez; Alexander Miethke; Tamir Miloh; Douglas Mogul; Saeed Mohammad; Parvathi Mohan; Stacy Moroz; Nadia Ovchinsky; Sirish Palle; Alexandra Papadopoulou; Girish S. Rao; Alexandre Rodrigues Ferreira; Pushpa Sathya; Kathleen B. Schwarz; Uzma Shah; Eyal Shteyer; Ruchi Singh; Vratislav Smolka; Nisreen Soufi; Atsushi Tanaka; Raghu Varier; Bernadette Vitola; Marek Woynarowski; Melissa Zerofsky; Andréanne Zizzo; Stephen L. Guthery;Background and Aims Disease progression in children with primary sclerosing cholangitis (PSC) is variable. Prognostic and risk‐stratification tools exist for adult‐onset PSC, but not for children. We aimed to create a tool that accounts for the biochemical and phenotypic features and early disease stage of pediatric PSC. Approach and Results We used retrospective data from the Pediatric PSC Consortium. The training cohort contained 1,012 patients from 40 centers. We generated a multivariate risk index (Sclerosing Cholangitis Outcomes in Pediatrics [SCOPE] index) that contained total bilirubin, albumin, platelet count, gamma glutamyltransferase, and cholangiography to predict a primary outcome of liver transplantation or death (TD) and a broader secondary outcome that included portal hypertensive, biliary, and cancer complications termed hepatobiliary complications (HBCs). The model stratified patients as low, medium, or high risk based on progression to TD at rates of <1%, 3%, and 9% annually and to HBCs at rates of 2%, 6%, and 13% annually, respectively (P < 0.001). C‐statistics to discriminate outcomes at 1 and 5 years were 0.95 and 0.82 for TD and 0.80 and 0.76 for HBCs, respectively. Baseline hepatic fibrosis stage was worse with increasing risk score, with extensive fibrosis in 8% of the lowest versus 100% with the highest risk index (P < 0.001). The model was validated in 240 children from 11 additional centers and performed well. Conclusions The SCOPE index is a pediatric‐specific prognostic tool for PSC. It uses routinely obtained, objective data to predict a complicated clinical course. It correlates strongly with biopsy‐proven liver fibrosis. SCOPE can be used with families for shared decision making on clinical care based on a patient’s individual risk, and to account for variable disease progression when designing future clinical trials.
Hepatology arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu24 citations 24 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Hepatology arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2016 Canada EnglishNature Publishing Group NIH | Administrative Core, UKRI | MRC Centre for Reproducti..., NIH | Characterization of the m... +4 projectsNIH| Administrative Core ,UKRI| MRC Centre for Reproductive Health ,NIH| Characterization of the macrophage-derived regenerative signals in intestine ,WT| The Metastatic Cascade: Macrophages Lead the Way. ,NIH| Differentiating Radio-sensitivities Among Intestinal Stem Cell Pools ,NIH| Paul Calabresi Career Development Award for Clinical Oncology (K12) ,NHMRC| The influence of a-actinin-3 on muscle structure, metabolism, performance and response to diet and diseaseSubhrajit Saha; Evelyn Aranda; Yoku Hayakawa; Payel Bhanja; Safinur Atay; N Patrik Brodin; Jiufeng Li; Samuel Asfaha; Laibin Liu; Yagnesh Tailor; Jinghang Zhang; Andrew K. Godwin; Wolfgang A. Tome; Timothy C. Wang; Chandan Guha; Jeffrey W. Pollard;pmc: PMC5065628
pmid: 27734833
WNT/β-catenin signalling is crucial for intestinal homoeostasis. The intestinal epithelium and stroma are the major source of WNT ligands but their origin and role in intestinal stem cell (ISC) and epithelial repair remains unknown. Macrophages are a major constituent of the intestinal stroma. Here, we analyse the role of macrophage-derived WNT in intestinal repair in mice by inhibiting their release using a macrophage-restricted ablation of Porcupine, a gene essential for WNT synthesis. Such Porcn-depleted mice have normal intestinal morphology but are hypersensitive to radiation injury in the intestine compared with wild-type (WT) littermates. Porcn-null mice are rescued from radiation lethality by treatment with WT but not Porcn-null bone marrow macrophage-conditioned medium (CM). Depletion of extracellular vesicles (EV) from the macrophage CM removes WNT function and its ability to rescue ISCs from radiation lethality. Therefore macrophage-derived EV-packaged WNTs are essential for regenerative response of intestine against radiation. The intestinal stroma secretes WNT ligands but the role of WNT in intestinal repair is unclear. Here, the authors show that when WNT synthesis is ablated from stromal macrophages, the intestine morphology is normal but hypersensitive to radiation injury, implicating macrophage-derived WNT in intestinal repair.
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For further information contact us at helpdesk@openaire.eu137 citations 137 popularity Top 1% influence Top 10% impulse Top 1% 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=PMC5065628&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 United Kingdom, CanadaSpringer Science and Business Media LLC NIH | CANCER CENTER SUPPORT GRA..., CIHRNIH| CANCER CENTER SUPPORT GRANT ,CIHRMagdalena Dragan; Mai Uyen Nguyen; Stephania Guzman; Cameron Goertzen; Muriel Brackstone; Waljit S. Dhillo; Paul Bech; Sophie A Clarke; Ali Abbara; Alan B. Tuck; David A. Hess; Sharon R. Pine; Wei-Xing Zong; Frederic E. Wondisford; Xiaoyang Su; Andy V. Babwah; Moshmi Bhattacharya;AbstractTriple-negative breast cancer (TNBC) is a highly metastatic and deadly disease. TNBC tumors lack estrogen receptor (ERα), progesterone receptor (PR), and HER2 (ErbB2) and exhibit increased glutamine metabolism, a requirement for tumor growth. The G protein-coupled kisspeptin receptor (KISS1R) is highly expressed in patient TNBC tumors and promotes malignant transformation of breast epithelial cells. This study found that TNBC patients displayed elevated plasma kisspeptin levels compared with healthy subjects. It also provides the first evidence that in addition to promoting tumor growth and metastasis in vivo, KISS1R-induced glutamine dependence of tumors. In addition, tracer-based metabolomics analyses revealed that KISS1R promoted glutaminolysis and nucleotide biosynthesis by increasing c-Myc and glutaminase levels, key regulators of glutamine metabolism. Overall, this study establishes KISS1R as a novel regulator of TNBC metabolism and metastasis, suggesting that targeting KISS1R could have therapeutic potential in the treatment of TNBC.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 7visibility views 7 download downloads 18 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1038/s41419-020-2305-7&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription 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.
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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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Conference object 2017 France, United Kingdom, Canada, DenmarkElsevier BV ANR | CESAME, EC | MUMI, UKRI | Exploiting the unique qua... +3 projectsANR| CESAME ,EC| MUMI ,UKRI| Exploiting the unique quantitative capabilities offered by simultaneous PET/MRI ,NIH| MR-assisted PET data optimization for neuroimaging studies ,EC| TRIMAGE ,ANR| LILIClaes Nøhr Ladefoged; Ian Law; Udunna C. Anazodo; Keith St. Lawrence; David Izquierdo-Garcia; Ciprian Catana; Ninon Burgos; M. Jorge Cardoso; Sebastien Ourselin; Brian Hutton; Inés Mérida; Nicolas Costes; Alexander Hammers; Didier Benoit; Søren Holm; Meher R. Juttukonda; Hongyu An; Jorge Cabello; Mathias Lukas; Stephan G. Nekolla; Sibylle Ziegler; Matthias Fenchel; Bjoern Jakoby; Michael E. Casey; Tammie L.S. Benzinger; Liselotte Højgaard; Adam E. Hansen; Flemming L. Andersen;Aim: To accurately quantify the radioactivity concentration measured by PET, emission data need to be corrected for photon attenuation; however, the MRI signal cannot easily be converted into attenuation values, making attenuation correction (AC) in PET/MRI challenging. In order to further improve the current vendor-implemented MR-AC methods for absolute quantification, a number of prototype methods have been proposed in the literature. These can be categorized into three types: template/atlas-based, segmentation-based, and reconstruction-based. These proposed methods in general demonstrated improvements compared to vendor-implemented AC, and many studies report deviations in PET uptake after AC of only a few percent from a gold standard CT-AC. Using a unified quantitative evaluation with identical metrics, subject cohort, and common CT-based reference, the aims of this study were to evaluate a selection of novel methods proposed in the literature, and identify the ones suitable for clinical use. Methods: In total, 11 AC methods were evaluated: two vendor-implemented (MR-ACDIXON and MR-ACUTE), five based on template/atlas information (MR-ACSEGBONE (Koesters et al., 2016), MR-ACONTARIO (Anazodo et al., 2014), MR-ACBOSTON (Izquierdo-Garcia et al., 2014), MR-ACUCL (Burgos et al., 2014), and MR-ACMAXPROB (Merida et al., 2015)), one based on simultaneous reconstruction of attenuation and emission (MR-ACMLAA (Benoit et al., 2015)), and three based on image-segmentation (MR-ACMUNICH (Cabello et al., 2015), MR-ACCAR-RiDR (Juttukonda et al., 2015), and MR-ACRESOLUTE (Ladefoged et al., 2015)). We selected 359 subjects who were scanned using one of the following radiotracers: [18F]FDG (210), [11C]PiB (51), and [18F]florbetapir (98). The comparison to AC with a gold standard CT was performed both globally and regionally, with a special focus on robustness and outlier analysis. Results: The average performance in PET tracer uptake was within ±5% of CT for all of the proposed methods, with the average±SD global percentage bias in PET FDG uptake for each method being: MR-ACDIXON (−11.3±3.5)%, MR-ACUTE (−5.7±2.0)%, MR-ACONTARIO (−4.3±3.6)%, MR-ACMUNICH (3.7±2.1)%, MR-ACMLAA (−1.9±2.6)%, MR-ACSEGBONE (−1.7±3.6)%, MR-ACUCL (0.8±1.2)%, MR-ACCAR-RiDR (−0.4±1.9)%, MR-ACMAXPROB (−0.4±1.6)%, MR-ACBOSTON (−0.3±1.8)%, and MR-ACRESOLUTE (0.3±1.7)%, ordered by average bias. The overall best performing methods (MR-ACBOSTON, MR-ACMAXPROB, MR-ACRESOLUTE and MR-ACUCL, ordered alphabetically) showed regional average errors within ±3% of PET with CT-AC in all regions of the brain with FDG, and the same four methods, as well as MR-ACCAR-RiDR, showed that for 95% of the patients, 95% of brain voxels had an uptake that deviated by less than 15% from the reference. Comparable performance was obtained with PiB and florbetapir. Conclusions: All of the proposed novel methods have an average global performance within likely acceptable limits (±5% of CT-based reference), and the main difference among the methods was found in the robustness, outlier analysis, and clinical feasibility. Overall, the best performing methods were MR-ACBOSTON, MR-ACMAXPROB, MR-ACRESOLUTE and MR-ACUCL, ordered alphabetically. These methods all minimized the number of outliers, standard deviation, and average global and local error. The methods MR-ACMUNICH and MR-ACCAR-RiDR were both within acceptable quantitative limits, so these methods should be considered if processing time is a factor. The method MR-ACSEGBONE also demonstrates promising results, and performs well within the likely acceptable quantitative limits. For clinical routine scans where processing time can be a key factor, this vendor-provided solution currently outperforms most methods. With the performance of the methods presented here, it may be concluded that the challenge of improving the accuracy of MR-AC in adult brains with normal anatomy has been solved to a quantitatively acceptable degree, which is smaller than the quantification reproducibility in PET imaging.
Europe PubMed Centra... arrow_drop_down Copenhagen University Research Information SystemArticle . 2017Data sources: Copenhagen University Research Information SystemMémoires en Sciences de l'Information et de la CommunicationConference object . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu212 citations 212 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 38 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Copenhagen University Research Information SystemArticle . 2017Data sources: Copenhagen University Research Information SystemMémoires en Sciences de l'Information et de la CommunicationConference object . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2015 Canada, NetherlandsBMJ NIH | Molecular basis of Jouber..., NIH | Genetic analyses of cereb..., NIH | Identifying all Meckel-li... +3 projectsNIH| Molecular basis of Joubert syndrome and related diseases ,NIH| Genetic analyses of cerebellar malformations ,NIH| Identifying all Meckel-like ciliopathy genes by established total exome capture a ,EC| SYSCILIA ,NIH| Joubert syndrome and related disorders of hindbrain development ,NIH| RESEARCH IN MENTAL RETARDATION AND CHILD DEVELOPMENTGisela G, Slaats; Christine R, Isabella; Hester Y, Kroes; Jennifer C, Dempsey; Hendrik, Gremmels; Glen R, Monroe; Ian G, Phelps; Karen J, Duran; Jonathan, Adkins; Sairam A, Kumar; Dana M, Knutzen; Nine V, Knoers; Nancy J, Mendelsohn; David, Neubauer; Sotiria D, Mastroyianni; Julie, Vogt; Lisa, Worgan; Natalya, Karp; Sarah, Bowdin; Ian A, Glass; Melissa A, Parisi; Edgar A, Otto; Colin A, Johnson; Friedhelm, Hildebrandt; Gijs, van Haaften; Rachel H, Giles; Dan, Doherty;pmid: 26490104
pmc: PMC5060087
Background Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation ‘the molar tooth sign’. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1 -related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. Methods We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1 -related JS and in a three-dimensional (3D) spheroid rescue assay to test the effects of disease-related MKS1 mutations. Results We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1 -related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1 -related JS carry ≥1 non-truncating mutation. Fibroblasts from individuals with MKS1 -related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. Conclusions MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalisation, is a key mechanism underlying JS, downstream of MKS1 and ARL13B.
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=10.1136/jmedgenet-2015-103250&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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description Publicationkeyboard_double_arrow_right Article , Other literature type 2022 CanadaFrontiers Media SA NIH | ARTFL LEFFTDS Longitudina..., CIHRNIH| ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) ,CIHRAuthors: Spyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; +16 AuthorsSpyros Papapetropoulos; Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; Virginija Karrenbauer; Virginija Karrenbauer; David S. Lynch; Matthew Brennan; Samantha Zappia; Wolfgang Koehler; Ludger Schoels; Ludger Schoels; Stefanie N. Hayer; Stefanie N. Hayer; Takuya Konno; Takeshi Ikeuchi; Troy Lund; Jennifer Orthmann-Murphy; Florian Eichler; Zbigniew K. Wszolek;A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.3389/fneur.2021.788168&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu22 citations 22 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Canada, France, France, SpainSAGE Publications NIH | UNC Clinical and Translat..., CIHRNIH| UNC Clinical and Translational Science Award ,CIHREvenson, Kelly R.; Barakat, Ruben; Brown, Wendy J.; Dargent-Molina, Patricia; Haruna, Megumi; Mikkelsen, Ellen M.; Mottola, Michelle F.; Owe, Katrine M.; Kim, Emily K.; Al-Judaibi, Bandar; Schwarz, Ute I.; Ramji, Alnoor; Tam, Edward; Ross, Colin J.; Carleton, Bruce C.;INTRODUCTION: Women attain numerous benefits from physical activity during pregnancy. However, due to physical changes that occur during pregnancy, special precautions are also needed. This review summarizes current guidelines for physical activity among pregnant women worldwide.METHODS: We searched PubMed (MedLINE) for country-specific governmental and clinical guidelines on physical activity during pregnancy through the year 2012. We cross-referenced with articles referring to guidelines, with only the most recent included. An abstraction form was used to extract key details and summarize.RESULTS: In total, 11 guidelines were identified from nine countries (Australia, Canada, Denmark, France, Japan, Norway, Spain, United Kingdom, United States). Most guidelines supported moderate intensity physical activity during pregnancy (10/11) and indicated specific frequency (9/11) and duration/time (9/11) recommendations. Most guidelines provided advice on initiating an exercise program during pregnancy (10/11). Six guidelines included absolute and relative contraindications to exercise. All guidelines generally ruled-out sports with risks of falls, trauma, or collisions. Six guidelines included indications for stopping exercise during pregnancy.CONCLUSION: This review contrasted pregnancy-related physical activity guidelines from around the world, and can help to inform new guidelines as they are created or updated, and facilitate the development of a worldwide guideline.
Archivo Digital UPM arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2014License: CC BY NC NDData sources: Recolector de Ciencia Abierta, RECOLECTAAmerican Journal of Lifestyle Medicine; PURE Aarhus UniversityArticle . 2013 . 2014License: SAGE TDMadd 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=10.1177/1559827613498204&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu226 citations 226 popularity Top 1% influence Top 1% impulse Top 10% Powered by BIP!more_vert Archivo Digital UPM arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2014License: CC BY NC NDData sources: Recolector de Ciencia Abierta, RECOLECTAAmerican Journal of Lifestyle Medicine; PURE Aarhus UniversityArticle . 2013 . 2014License: SAGE TDMadd 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=10.1177/1559827613498204&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015 CanadaPublic Library of Science (PLoS) WT | Learning and recovery of ..., NIH | Mapping the Human Connect...WT| Learning and recovery of skilled finger movements. ,NIH| Mapping the Human Connectome: Structure, Function, and HeritabilityAuthors: Diedrichsen, Jörn; Zotow, Ewa;Diedrichsen, Jörn; Zotow, Ewa;The paper presents a flat representation of the human cerebellum, useful for visualizing functional imaging data after volume-based normalization and averaging across subjects. Instead of reconstructing individual cerebellar surfaces, the method uses a white- and greymatter surface defined on volume-averaged anatomical data. Functional data can be projected along the lines of corresponding vertices on the two surfaces. The flat representation is optimized to yield a roughly proportional relationship between the surface area of the 2Drepresentation and the volume of the underlying cerebellar grey matter. The map allows users to visualize the activation state of the complete cerebellar grey matter in one concise view, equally revealing both the anterior-posterior (lobular) and medial-lateral organization. As examples, published data on resting-state networks and task-related activity are presented on the flatmap. The software and maps are freely available and compatible with most major neuroimaging packages. Copyright:
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.pone.0133402&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu202 citations 202 popularity Top 1% influence Top 10% impulse Top 1% 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=10.1371/journal.pone.0133402&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 CanadaFrontiers Media SA NIH | Molecular Mechanisms Regu...NIH| Molecular Mechanisms Regulating Placental Nutrient TransportersFredrick J. Rosario; Theresa L. Powell; Theresa L. Powell; Madhulika B. Gupta; Laura Cox; Thomas Jansson;Mechanistic Target of Rapamycin Complex 1 (mTORC1) serves as positive regulator of placental nutrient transport and mitochondrial respiration. The role of mTORC1 signaling in modulating other placental functions is largely unexplored. We used gene array following silencing of raptor to identify genes regulated by mTORC1 in primary human trophoblast (PHT) cells. Seven hundred and thirty-nine genes were differentially expressed; 487 genes were down-regulated and 252 up-regulated. Bioinformatic analyses demonstrated that inhibition of mTORC1 resulted in decreased expression of genes encoding ribosomal proteins in the 60S and 40S ribosome subunits. Furthermore, down-regulated genes were functionally enriched in genes involved in eIF2, sirtuin and mTOR signaling, mitochondrial function, and glutamine and zinc transport. Stress response genes were enriched among up-regulated genes following mTORC1 inhibition. The protein expression of ribosomal proteins RPL26 (RPL26) and Ribosomal Protein S10 (RPS10) was decreased and positively correlated to mTORC1 signaling and System A amino acid transport in human placentas collected from pregnancies complicated by intrauterine growth restriction (IUGR). In conclusion, mTORC1 signaling regulates the expression of trophoblast genes involved in ribosome and protein synthesis, mitochondrial function, lipid metabolism, nutrient transport, and angiogenesis, representing novel links between mTOR signaling and multiple placental functions critical for normal fetal growth and development.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.3389/fcell.2020.583801&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu20 citations 20 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=10.3389/fcell.2020.583801&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2020 Finland, Netherlands, Canada, ItalyOvid Technologies (Wolters Kluwer Health) NIH | University of Utah Center..., NIH | University of Utah Center..., NIH | University of Utah Center...NIH| University of Utah Center for Clinical and Translational Science-UL1 ,NIH| University of Utah Center for clinical and Translational Science ,NIH| University of Utah Center for Clinical and Translational Science-UL1Mark Deneau; Cara L. Mack; Emily R. Perito; Amanda Ricciuto; Pamela L. Valentino; Mansi Amin; Achiya Z. Amir; Madeleine Aumar; Marcus Auth; Annemarie Broderick; Matthew DiGuglielmo; Laura G. Draijer; Eleonora Druve Tavares Fagundes; Wael El-Matary; Federica Ferrari; Katryn N. Furuya; Nitika A. Gupta; Jessica T. Hochberg; Matjaz Homan; Simon Horslen; Raffaele Iorio; M. Kyle Jensen; Maureen M. Jonas; Binita M. Kamath; Nanda Kerkar; Kyung Mo Kim; Kaija-Leena Kolho; Bart G. P. Koot; Trevor J. Laborda; Christine K. Lee; Kathleen M. Loomes; Mercedes Martinez; Alexander Miethke; Tamir Miloh; Douglas Mogul; Saeed Mohammad; Parvathi Mohan; Stacy Moroz; Nadia Ovchinsky; Sirish Palle; Alexandra Papadopoulou; Girish S. Rao; Alexandre Rodrigues Ferreira; Pushpa Sathya; Kathleen B. Schwarz; Uzma Shah; Eyal Shteyer; Ruchi Singh; Vratislav Smolka; Nisreen Soufi; Atsushi Tanaka; Raghu Varier; Bernadette Vitola; Marek Woynarowski; Melissa Zerofsky; Andréanne Zizzo; Stephen L. Guthery;Background and Aims Disease progression in children with primary sclerosing cholangitis (PSC) is variable. Prognostic and risk‐stratification tools exist for adult‐onset PSC, but not for children. We aimed to create a tool that accounts for the biochemical and phenotypic features and early disease stage of pediatric PSC. Approach and Results We used retrospective data from the Pediatric PSC Consortium. The training cohort contained 1,012 patients from 40 centers. We generated a multivariate risk index (Sclerosing Cholangitis Outcomes in Pediatrics [SCOPE] index) that contained total bilirubin, albumin, platelet count, gamma glutamyltransferase, and cholangiography to predict a primary outcome of liver transplantation or death (TD) and a broader secondary outcome that included portal hypertensive, biliary, and cancer complications termed hepatobiliary complications (HBCs). The model stratified patients as low, medium, or high risk based on progression to TD at rates of <1%, 3%, and 9% annually and to HBCs at rates of 2%, 6%, and 13% annually, respectively (P < 0.001). C‐statistics to discriminate outcomes at 1 and 5 years were 0.95 and 0.82 for TD and 0.80 and 0.76 for HBCs, respectively. Baseline hepatic fibrosis stage was worse with increasing risk score, with extensive fibrosis in 8% of the lowest versus 100% with the highest risk index (P < 0.001). The model was validated in 240 children from 11 additional centers and performed well. Conclusions The SCOPE index is a pediatric‐specific prognostic tool for PSC. It uses routinely obtained, objective data to predict a complicated clinical course. It correlates strongly with biopsy‐proven liver fibrosis. SCOPE can be used with families for shared decision making on clinical care based on a patient’s individual risk, and to account for variable disease progression when designing future clinical trials.
Hepatology arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu24 citations 24 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Hepatology arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2016 Canada EnglishNature Publishing Group NIH | Administrative Core, UKRI | MRC Centre for Reproducti..., NIH | Characterization of the m... +4 projectsNIH| Administrative Core ,UKRI| MRC Centre for Reproductive Health ,NIH| Characterization of the macrophage-derived regenerative signals in intestine ,WT| The Metastatic Cascade: Macrophages Lead the Way. ,NIH| Differentiating Radio-sensitivities Among Intestinal Stem Cell Pools ,NIH| Paul Calabresi Career Development Award for Clinical Oncology (K12) ,NHMRC| The influence of a-actinin-3 on muscle structure, metabolism, performance and response to diet and diseaseSubhrajit Saha; Evelyn Aranda; Yoku Hayakawa; Payel Bhanja; Safinur Atay; N Patrik Brodin; Jiufeng Li; Samuel Asfaha; Laibin Liu; Yagnesh Tailor; Jinghang Zhang; Andrew K. Godwin; Wolfgang A. Tome; Timothy C. Wang; Chandan Guha; Jeffrey W. Pollard;pmc: PMC5065628
pmid: 27734833
WNT/β-catenin signalling is crucial for intestinal homoeostasis. The intestinal epithelium and stroma are the major source of WNT ligands but their origin and role in intestinal stem cell (ISC) and epithelial repair remains unknown. Macrophages are a major constituent of the intestinal stroma. Here, we analyse the role of macrophage-derived WNT in intestinal repair in mice by inhibiting their release using a macrophage-restricted ablation of Porcupine, a gene essential for WNT synthesis. Such Porcn-depleted mice have normal intestinal morphology but are hypersensitive to radiation injury in the intestine compared with wild-type (WT) littermates. Porcn-null mice are rescued from radiation lethality by treatment with WT but not Porcn-null bone marrow macrophage-conditioned medium (CM). Depletion of extracellular vesicles (EV) from the macrophage CM removes WNT function and its ability to rescue ISCs from radiation lethality. Therefore macrophage-derived EV-packaged WNTs are essential for regenerative response of intestine against radiation. The intestinal stroma secretes WNT ligands but the role of WNT in intestinal repair is unclear. Here, the authors show that when WNT synthesis is ablated from stromal macrophages, the intestine morphology is normal but hypersensitive to radiation injury, implicating macrophage-derived WNT in intestinal repair.
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For further information contact us at helpdesk@openaire.eu137 citations 137 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 United Kingdom, CanadaSpringer Science and Business Media LLC NIH | CANCER CENTER SUPPORT GRA..., CIHRNIH| CANCER CENTER SUPPORT GRANT ,CIHRMagdalena Dragan; Mai Uyen Nguyen; Stephania Guzman; Cameron Goertzen; Muriel Brackstone; Waljit S. Dhillo; Paul Bech; Sophie A Clarke; Ali Abbara; Alan B. Tuck; David A. Hess; Sharon R. Pine; Wei-Xing Zong; Frederic E. Wondisford; Xiaoyang Su; Andy V. Babwah; Moshmi Bhattacharya;AbstractTriple-negative breast cancer (TNBC) is a highly metastatic and deadly disease. TNBC tumors lack estrogen receptor (ERα), progesterone receptor (PR), and HER2 (ErbB2) and exhibit increased glutamine metabolism, a requirement for tumor growth. The G protein-coupled kisspeptin receptor (KISS1R) is highly expressed in patient TNBC tumors and promotes malignant transformation of breast epithelial cells. This study found that TNBC patients displayed elevated plasma kisspeptin levels compared with healthy subjects. It also provides the first evidence that in addition to promoting tumor growth and metastasis in vivo, KISS1R-induced glutamine dependence of tumors. In addition, tracer-based metabolomics analyses revealed that KISS1R promoted glutaminolysis and nucleotide biosynthesis by increasing c-Myc and glutaminase levels, key regulators of glutamine metabolism. Overall, this study establishes KISS1R as a novel regulator of TNBC metabolism and metastasis, suggesting that targeting KISS1R could have therapeutic potential in the treatment of TNBC.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 7visibility views 7 download downloads 18 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right 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.
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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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Conference object 2017 France, United Kingdom, Canada, DenmarkElsevier BV ANR | CESAME, EC | MUMI, UKRI | Exploiting the unique qua... +3 projectsANR| CESAME ,EC| MUMI ,UKRI| Exploiting the unique quantitative capabilities offered by simultaneous PET/MRI ,NIH| MR-assisted PET data optimization for neuroimaging studies ,EC| TRIMAGE ,ANR| LILIClaes Nøhr Ladefoged; Ian Law; Udunna C. Anazodo; Keith St. Lawrence; David Izquierdo-Garcia; Ciprian Catana; Ninon Burgos; M. Jorge Cardoso; Sebastien Ourselin; Brian Hutton; Inés Mérida; Nicolas Costes; Alexander Hammers; Didier Benoit; Søren Holm; Meher R. Juttukonda; Hongyu An; Jorge Cabello; Mathias Lukas; Stephan G. Nekolla; Sibylle Ziegler; Matthias Fenchel; Bjoern Jakoby; Michael E. Casey; Tammie L.S. Benzinger; Liselotte Højgaard; Adam E. Hansen; Flemming L. Andersen;Aim: To accurately quantify the radioactivity concentration measured by PET, emission data need to be corrected for photon attenuation; however, the MRI signal cannot easily be converted into attenuation values, making attenuation correction (AC) in PET/MRI challenging. In order to further improve the current vendor-implemented MR-AC methods for absolute quantification, a number of prototype methods have been proposed in the literature. These can be categorized into three types: template/atlas-based, segmentation-based, and reconstruction-based. These proposed methods in general demonstrated improvements compared to vendor-implemented AC, and many studies report deviations in PET uptake after AC of only a few percent from a gold standard CT-AC. Using a unified quantitative evaluation with identical metrics, subject cohort, and common CT-based reference, the aims of this study were to evaluate a selection of novel methods proposed in the literature, and identify the ones suitable for clinical use. Methods: In total, 11 AC methods were evaluated: two vendor-implemented (MR-ACDIXON and MR-ACUTE), five based on template/atlas information (MR-ACSEGBONE (Koesters et al., 2016), MR-ACONTARIO (Anazodo et al., 2014), MR-ACBOSTON (Izquierdo-Garcia et al., 2014), MR-ACUCL (Burgos et al., 2014), and MR-ACMAXPROB (Merida et al., 2015)), one based on simultaneous reconstruction of attenuation and emission (MR-ACMLAA (Benoit et al., 2015)), and three based on image-segmentation (MR-ACMUNICH (Cabello et al., 2015), MR-ACCAR-RiDR (Juttukonda et al., 2015), and MR-ACRESOLUTE (Ladefoged et al., 2015)). We selected 359 subjects who were scanned using one of the following radiotracers: [18F]FDG (210), [11C]PiB (51), and [18F]florbetapir (98). The comparison to AC with a gold standard CT was performed both globally and regionally, with a special focus on robustness and outlier analysis. Results: The average performance in PET tracer uptake was within ±5% of CT for all of the proposed methods, with the average±SD global percentage bias in PET FDG uptake for each method being: MR-ACDIXON (−11.3±3.5)%, MR-ACUTE (−5.7±2.0)%, MR-ACONTARIO (−4.3±3.6)%, MR-ACMUNICH (3.7±2.1)%, MR-ACMLAA (−1.9±2.6)%, MR-ACSEGBONE (−1.7±3.6)%, MR-ACUCL (0.8±1.2)%, MR-ACCAR-RiDR (−0.4±1.9)%, MR-ACMAXPROB (−0.4±1.6)%, MR-ACBOSTON (−0.3±1.8)%, and MR-ACRESOLUTE (0.3±1.7)%, ordered by average bias. The overall best performing methods (MR-ACBOSTON, MR-ACMAXPROB, MR-ACRESOLUTE and MR-ACUCL, ordered alphabetically) showed regional average errors within ±3% of PET with CT-AC in all regions of the brain with FDG, and the same four methods, as well as MR-ACCAR-RiDR, showed that for 95% of the patients, 95% of brain voxels had an uptake that deviated by less than 15% from the reference. Comparable performance was obtained with PiB and florbetapir. Conclusions: All of the proposed novel methods have an average global performance within likely acceptable limits (±5% of CT-based reference), and the main difference among the methods was found in the robustness, outlier analysis, and clinical feasibility. Overall, the best performing methods were MR-ACBOSTON, MR-ACMAXPROB, MR-ACRESOLUTE and MR-ACUCL, ordered alphabetically. These methods all minimized the number of outliers, standard deviation, and average global and local error. The methods MR-ACMUNICH and MR-ACCAR-RiDR were both within acceptable quantitative limits, so these methods should be considered if processing time is a factor. The method MR-ACSEGBONE also demonstrates promising results, and performs well within the likely acceptable quantitative limits. For clinical routine scans where processing time can be a key factor, this vendor-provided solution currently outperforms most methods. With the performance of the methods presented here, it may be concluded that the challenge of improving the accuracy of MR-AC in adult brains with normal anatomy has been solved to a quantitatively acceptable degree, which is smaller than the quantification reproducibility in PET imaging.
Europe PubMed Centra... arrow_drop_down Copenhagen University Research Information SystemArticle . 2017Data sources: Copenhagen University Research Information SystemMémoires en Sciences de l'Information et de la CommunicationConference object . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu212 citations 212 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 38 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Copenhagen University Research Information SystemArticle . 2017Data sources: Copenhagen University Research Information SystemMémoires en Sciences de l'Information et de la CommunicationConference object . 2016add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2015 Canada, NetherlandsBMJ NIH | Molecular basis of Jouber..., NIH | Genetic analyses of cereb..., NIH | Identifying all Meckel-li... +3 projectsNIH| Molecular basis of Joubert syndrome and related diseases ,NIH| Genetic analyses of cerebellar malformations ,NIH| Identifying all Meckel-like ciliopathy genes by established total exome capture a ,EC| SYSCILIA ,NIH| Joubert syndrome and related disorders of hindbrain development ,NIH| RESEARCH IN MENTAL RETARDATION AND CHILD DEVELOPMENTGisela G, Slaats; Christine R, Isabella; Hester Y, Kroes; Jennifer C, Dempsey; Hendrik, Gremmels; Glen R, Monroe; Ian G, Phelps; Karen J, Duran; Jonathan, Adkins; Sairam A, Kumar; Dana M, Knutzen; Nine V, Knoers; Nancy J, Mendelsohn; David, Neubauer; Sotiria D, Mastroyianni; Julie, Vogt; Lisa, Worgan; Natalya, Karp; Sarah, Bowdin; Ian A, Glass; Melissa A, Parisi; Edgar A, Otto; Colin A, Johnson; Friedhelm, Hildebrandt; Gijs, van Haaften; Rachel H, Giles; Dan, Doherty;pmid: 26490104
pmc: PMC5060087
Background Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation ‘the molar tooth sign’. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1 -related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. Methods We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1 -related JS and in a three-dimensional (3D) spheroid rescue assay to test the effects of disease-related MKS1 mutations. Results We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1 -related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1 -related JS carry ≥1 non-truncating mutation. Fibroblasts from individuals with MKS1 -related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. Conclusions MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalisation, is a key mechanism underlying JS, downstream of MKS1 and ARL13B.
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For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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