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description Publicationkeyboard_double_arrow_right Article 2008 NetherlandsElsevier BV Max Dahele; Shannon Pearson; Thomas G. Purdie; Jean-Pierre Bissonnette; Kevin Franks; Anthony Brade; John Cho; Alexander Sun; A. Hope; Andrea Marshall; Jane Higgins; Andrea Bezjak;pmid: 18978570
Introduction: With the anticipation of improved outcomes, especially for patients with early-stage non-small cell lung cancer, stereotactic body radiation therapy (SBRT) has been rapidly introduced into the thoracic radiation oncology community. Although at first glance lung SBRT might seem methodologically similar to conventional radiotherapy, there are important differences in its execution that require particular consideration. The objective of this paper is to highlight these and other issues to contribute to the safe and effective diffusion of lung SBRT. We discuss practical challenges that have been encountered in the implementation of lung SBRT at a single, large institution and emphasize the importance of a systematic approach to the design of lung SBRT services. Methods: Specific technical and clinical components that were identified as being important during the development of lung SBRT at Princess Margaret Hospital are described. The clinical system that evolved from these is outlined. Results: Using this clinical framework the practical topics addressed include: patient assessment, simulation and treatment planning, tumor and organ at risk delineation, trial set up before treatment, on-line image-guidance, and patient follow-up. Conclusions: The potential gain in therapeutic ratio that is theoretically possible with lung SBRT can only be realized if the tumor is adequately irradiated and normal tissue spared. A discussion of the component parts of lung SBRT is presented. It is a complex process and specific challenges need to be overcome to effect the satisfactory transition of lung SBRT into routine practice.
Journal of Thoracic ... arrow_drop_down 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.eu41 citations 41 popularity Average influence Top 10% impulse Top 10% Powered by BIP!more_vert Journal of Thoracic ... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 CanadaResearch Square Platform LLC Susan Hunter; Alison Divine; Humberto Omana; Edward Madou; Jeffrey Holmes;Abstract Background Balance and gait problems are common and progressive in dementia. Use of a mobility aid provides physical support and confidence. Yet, mobility aid use in people with dementia increases falls three-fold. An assessment tool of mobility aid safety in people with dementia does not currently exist. The objectives of this study were: 1) to develop a tool for the evaluation of physical function and safe use of a 4-wheeled walker in people with dementia, and 2) to evaluate its construct and criterion validity, inter-rater and test-retest reliability and minimal detectable change. Methods Healthcare professionals (HCP) experienced in rehabilitation of people with dementia participated in focus groups for item generation of the new tool, The Safe Use of Mobility Aid Checklist (SUMAC). The SUMAC evaluates physical function (PF) and safe use of the equipment (EQ) on nine tasks of daily life. Reliability was evaluated by HCP (n = 5) scored participant videos of people with dementia (n = 10) using a 4-wheeled walker performing the SUMAC. Inter-rater and test-retest reliability was assessed using intra-class correlation coefficients (ICC). Construct validity evaluated scores of the HCPs to a consensus HCP panel using Spearman’s rank-order correlations. Criterion validity evaluated SUMAC-PF to the Performance-Oriented Mobility Assessment (POMA) gait subscale using Spearman’s rank-order correlations. Results Three focus groups (n = 17) generated a tool comprised of nine tasks and the components within each task for physical function and safe use. Inter-rater reliability was statistically significant for SUMAC-PF (ICC = 0.92, 95%CI (0.81, 0.98), p < 0.001) and SUMAC-EQ. (ICC = 0.82, 95%CI (0.54, 0.95), p < 0.001). Test-retest reliability was statistically significant for SUMAC-PF (ICC = 0.89, 95%CI (0.81, 0.94), p < 0.001) and SUMAC-EQ. (ICC = 0.88, 95%CI (0.79, 0.93), p < 0.001). As hypothesized, the POMA gait subscale correlated strongly with the SUMAC-PF (rs = 0.84), but not EQ (rs = 0.39). Conclusions The focus groups and research team developed a tool of nine tasks with evaluation on physical function and safe use of a 4-wheeled walker for people with dementia. The SUMAC tool has demonstrated content validity for the whole scale and good construct and criterion validity for the SUMAC-PF and SUMAC-EQ. The subscores of the SUMAC demonstrated excellent to good inter-rater and test-retest reliability.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Average influence Average impulse Average Powered by BIP!visibility 2visibility views 2 download downloads 12 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaElsevier BV Aras Kayvanrad; Stephen R. Arnott; Nathan W. Churchill; Stefanie Hassel; Aditi Chemparathy; Fan Dong; Mojdeh Zamyadi; Tom Gee; Robert Bartha; Sandra E. Black; Jane M. Lawrence-Dewar; Christopher J.M. Scott; Sean P. Symons; Andrew D. Davis; Geoffrey B. Hall; Jacqueline K. Harris; Nancy J. Lobaugh; Glenda MacQueen; Cindy Woo; Stephen C. Strother;pmid: 34029737
Quality assurance (QA) is crucial in longitudinal and/or multi-site studies, which involve the collection of data from a group of subjects over time and/or at different locations. It is important to regularly monitor the performance of the scanners over time and at different locations to detect and control for intrinsic differences (e.g., due to manufacturers) and changes in scanner performance (e.g., due to gradual component aging, software and/or hardware upgrades, etc.). As part of the Ontario Neurodegenerative Disease Research Initiative (ONDRI) and the Canadian Biomarker Integration Network in Depression (CAN-BIND), QA phantom scans were conducted approximately monthly for three to four years at 13 sites across Canada with 3T research MRI scanners. QA parameters were calculated for each scan using the functional Biomarker Imaging Research Network's (fBIRN) QA phantom and pipeline to capture between- and within-scanner variability. We also describe a QA protocol to measure the full-width-at-half-maximum (FWHM) of slice-wise point spread functions (PSF), used in conjunction with the fBIRN QA parameters. Variations in image resolution measured by the FWHM are a primary source of variance over time for many sites, as well as between sites and between manufacturers. We also identify an unexpected range of instabilities affecting individual slices in a number of scanners, which may amount to a substantial contribution of unexplained signal variance to their data. Finally, we identify a preliminary preprocessing approach to reduce this variance and/or alleviate the slice anomalies, and in a small human data set show that this change in preprocessing can have a significant impact on seed-based connectivity measurements for some individual subjects. We expect that other fMRI centres will find this approach to identifying and controlling scanner instabilities useful in similar studies.
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For further information contact us at helpdesk@openaire.eu5 citations 5 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaSpringer Science and Business Media LLC Palma, David A.; Olson, Robert; Harrow, Stephen; Correa, Rohann J.M.; Schneiders, Famke; Haasbeek, Cornelis J.A.; Rodrigues, George B.; Lock, Michael; Yaremko, Brian P.; Bauman, Glenn S.; Ahmad, Belal; Schellenberg, Devin; Liu, Mitchell; Gaede, Stewart; Laba, Joanna; Mulroy, Liam; Senthi, Sashendra; Louie, Alexander V.; Swaminath, Anand; Chalmers, Anthony; Warner, Andrew; Slotman, Ben J.; de Gruijl, Tanja D.; Allan, Alison; Senan, Suresh;Background Stereotactic ablative radiotherapy (SABR) has emerged as a new treatment option for patients with oligometastatic disease. SABR delivers precise, high-dose, hypofractionated radiotherapy, and achieves excellent rates of local control for primary tumors or metastases. A recent randomized phase II trial evaluated SABR in a group of patients with a small burden of oligometastatic disease (mostly with 1–3 metastatic lesions), and found that SABR was associated with benefits in progression-free survival and overall survival. The goal of this phase III trial is to assess the impact of SABR in patients with 4–10 metastatic cancer lesions. Methods One hundred and fifty-nine patients will be randomized in a 1:2 ratio between the control arm (consisting of standard of care palliative-intent treatments), and the SABR arm (consisting of standard of care treatment + SABR to all sites of known disease). Randomization will be stratified by two factors: histology (Group 1: prostate, breast, or renal; Group 2: all others), and type of pre-specified systemic therapy (Group 1: immunotherapy/targeted; Group 2: cytotoxic; Group 3: observation). SABR is to be completed within 2 weeks, allowing for rapid initiation of systemic therapy. Recommended SABR doses are 20 Gy in 1 fraction, 30 Gy in 3 fractions, or 35 Gy in 5 fractions, chosen to minimize risks of toxicity. The primary endpoint is overall survival, and secondary endpoints include progression-free survival, time to development of new metastatic lesions, quality of life, and toxicity. Translational endpoints include assessment of circulating tumor cells, cell-free DNA, and tumor tissue as prognostic and predictive markers, including assessment of immunological predictors of response and long-term survival. Discussion This study will provide an assessment of the impact of SABR on clinical outcomes and quality of life, to determine if long-term survival can be achieved for selected patients with 4–10 oligometastatic lesions. Trial registration Clinicaltrials.gov identifier: NCT03721341. Date of registration: October 26, 2018. Electronic supplementary material The online version of this article (10.1186/s12885-019-5977-6) contains supplementary material, which is available to authorized users.
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For further information contact us at helpdesk@openaire.eu169 citations 169 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 6 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 NetherlandsOvid Technologies (Wolters Kluwer Health) Merseburger, Axel S; Castellano, Daniel; Powles, Thomas; Loriot, Yohann; Retz, Margitta; Voortman, Jens; Huddart, Robert A; Gedye, Craig; Van Der Heijden, Michiel S; Gurney, Howard; Ong, Michael; de Ducla, Sabine; Pavlova, Julie; Fear, Simon; Sternberg, Cora N;pmid: 33940928
PURPOSE: Atezolizumab is an established treatment option for pretreated urothelial carcinoma, demonstrating efficacy in phase II/III trials. The SAUL study enrolled a broader patient population to determine safety and efficacy in underrepresented subgroups. MATERIALS AND METHODS: Patients with metastatic urinary tract carcinoma received atezolizumab 1,200 mg every 3 weeks until disease progression, unacceptable toxicity, loss of clinical benefit, or patient/physician decision. The primary endpoint was safety. Efficacy was a secondary endpoint. Analyses by programmed cell death ligand-1 (PD-L1) status, age, Eastern Cooperative Oncology Group performance status (ECOG PS) and renal impairment were prespecified; post hoc analyses explored outcomes by tumor location. RESULTS: A total of 1,004 patients were enrolled. Subgroup analyses in patients with older age, renal impairment, or upper tract urothelial carcinoma showed safety and efficacy similar to those in patients without these characteristics. Patients with ECOG PS 2 had clinical features typically associated with aggressive disease; median overall survival was 2.3 months versus 10.0 months in patients with ECOG PS0/1. Patients with PD-L1 expression on ≥5% of tumor-infiltrating immune cells tended to have better outcomes than those with <5% PD-L1 expression, although conclusions on the relative efficacy of atezolizumab cannot be drawn from this single-arm study. CONCLUSIONS: The understudied populations included in the SAUL study had similar outcomes to those in more selected populations included in phase II/III trials of atezolizumab, except for those with ECOG PS 2. Age ≥80 years and/or creatinine clearance <30 ml/minute does not preclude administration of atezolizumab; however, treatment risk versus benefit must be carefully assessed in patients with ECOG PS 2.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, Netherlands, Netherlands, United Kingdom, Germany, NetherlandsAmerican Psychiatric Association Publishing WT | Stratifying Resilience an..., NIH | ENIGMA-SD: Understanding ..., NIH | A Network Approach to Stu... +10 projectsWT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| ENIGMA-SD: Understanding Sex Differences in Global Mental Health through ENIGMA ,NIH| A Network Approach to Study Brain Plasticity in Children with Cognitive Training ,NIH| ENIGMA Center for Worldwide Medicine, Imaging & Genomics ,NIH| A Cross-Sectional and Longitudinal Functional MRI Study of Adolescent Depression ,EC| IMAGEMEND ,NIH| The Roles of Inflammatory and Glutamatergic Processes in the Neurodevelopmental Mechanisms Underlying Adolescent Depression ,NHMRC| Neural predictors of treatment response in youth depression ,NIH| Fronto-limbic Connectivity in Adolescents with MDD ,NHMRC| Neuroimaging in mental health: the quest for clinically useful biomarkers ,NIH| C13 SPECTROSCOPY W/ PROTON DECOUPLING IN HUMANS AT 4 TESLA ,NHMRC| First-Line Management of Youth Depression: A Randomised Placebo-Controlled Trial of Fluoxetine and Cognitive Behavioural Therapy ,NHMRC| Advancing our understanding of the genetics of Psychiatric and Neurological DiseaseAuthors: Carolien G.F. de Kovel; Lyubomir I. Aftanas; André Aleman; Aaron Alexander-Bloch; +74 AuthorsCarolien G.F. de Kovel; Lyubomir I. Aftanas; André Aleman; Aaron Alexander-Bloch; Bernhard T. Baune; Ivan Brack; Robin Bülow; Geraldo Busatto Filho; Angela Carballedo; Colm G. Connolly; Kathryn R. Cullen; Udo Dannlowski; Christopher G. Davey; Danai Dima; Katharina Dohm; Tracy Erwin-Grabner; Thomas Frodl; Cynthia H.Y. Fu; Geoffrey B. Hall; David C. Glahn; Beata R. Godlewska; Ian H. Gotlib; Roberto Goya-Maldonado; Hans J. Grabe; Nynke A. Groenewold; Dominik Grotegerd; Oliver Gruber; Mathew A. Harris; Ben J. Harrison; Sean N. Hatton; Ian B. Hickie; Tiffany C. Ho; Neda Jahanshad; Tilo Kircher; Bernd Kramer; Axel Krug; Jim Lagopoulos; Elisabeth J. Leehr; Meng Li; Frank P. MacMaster; Glenda MacQueen; Andrew M. McIntosh; Quinn McLellan; Sarah E. Medland; Bryon A. Mueller; Igor Nenadic; Evgeny Osipov; Martina Papmeyer; Maria J. Portella; Liesbeth Reneman; Pedro G.P. Rosa; Matthew D. Sacchet; Knut Schnell; Anouk Schrantee; Kang Sim; Egle Simulionyte; Lisa Sindermann; Aditya Singh; Dan J. Stein; Benjamin Ubani; Nic J.A. van der Wee; Steven J.A. van der Werff; Ilya M. Veer; Yolanda Vives-Gilabert; Henry Völzke; Henrik Walter; Martin Walter; Melinda Westlund Schreiner; Heather C. Whalley; Nils R. Winter; Katharina Wittfeld; Tony T. Yang; Dilara Yüksel; Dario Zaremba; Paul M. Thompson; Dick J. Veltman; Lianne Schmaal; Clyde Francks;Objective: Asymmetry is a subtle but pervasive aspect of the human brain, and it may be altered in several psychiatric conditions. MRI studies have shown subtle differences of brain anatomy between people with major depressive disorder and healthy control subjects, but few studies have specifically examined brain anatomical asymmetry in relation to this disorder, and results from those studies have remained inconclusive. At the functional level, some electroencephalography studies have indicated left fronto-cortical hypoactivity and right parietal hypoactivity in depressive disorders, so aspects of lateralized anatomy may also be affected. The authors used pooled individual-level data from data sets collected around the world to investigate differences in laterality in measures of cortical thickness, cortical surface area, and subcortical volume between individuals with major depression and healthy control subjects.Methods: The authors investigated differences in the laterality of thickness and surface area measures of 34 cerebral cortical regions in 2,256 individuals with major depression and 3,504 control subjects from 31 separate data sets, and they investigated volume asymmetries of eight subcortical structures in 2,540 individuals with major depression and 4,230 control subjects from 32 data sets. T-1-weighted MRI data were processedwith a single protocol using FreeSurfer and the Desikan-Killiany atlas. The large sample size provided 80% power to detect effects of the order of Cohen's d=0.1.Results: The largest effect size (Cohen's d) of major depression diagnosis was 0.085 for the thickness asymmetry of the superior temporal cortex, which was not significant after adjustment for multiple testing. Asymmetry measures were not significantly associated with medication use, acute compared with remitted status, first episode compared with recurrent status, or age at onset.Conclusions: Altered brain macro-anatomical asymmetry may be of little relevance to major depression etiology in most cases.
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For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 3visibility views 3 download downloads 135 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
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For further information contact us at helpdesk@openaire.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Netherlands, Ireland, United Kingdom, ItalySpringer Science and Business Media LLC NIH | Characterizing Genetic Su..., NIH | Breast &Prostate Cancer &..., NIH | Breast &prostate cancer &... +6 projectsNIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer: The BPC3. ,NIH| Breast &Prostate Cancer &Hormone-related Gene Variants ,NIH| Breast &prostate cancer &hormone-related gene variants ,EC| COGS ,NIH| Genetic epidemiology of cell division regulation in breast cancer ,WT ,CIHR ,NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer;the BPC3 ,NIH| Discovery Expansion and ReplicationAuthors: Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; +207 AuthorsMontserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Loic Le Marchand; Julie E. Buring; Diana Eccles; Penelope Miron; Hiltrud Brauch; Jane Carpenter; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Elinor J. Sawyer; Antoinette Hollestelle; Olivia Fletcher; Hermann Brenner; Ute Hamann; Alfons Meindl; Peter Devillee; Mark S. Goldberg; Jan Lubinski; Vessela N. Kristensen; Anthony J. Swerdlow; Hoda Anton-Culver; Thilo Dörk; Kenneth Muir; Keitaro Matsuo; Anna H. Wu; Paolo Radice; Soo Hwang Teo; Xiao-Ou Shu; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen-Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Laura J. van't Veer; Emiel J. Th. Rutgers; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Arif B. Ekici; Matthias W. Beckmann; Isabel dos Santos Silva; Helen R. Warren; Michael J. Kerin; Nicola Miller; Federick Marme; Christof Sohn; Thérèse Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Magdalena Lochmann; Taru A. Muranen; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hiroji Iwata; Yasushi Yatabe; Natalia Antonenkova; Sara Margolin; Vesa Kataja; Veli-Matti Kosma; Jaana M. Hartikainen; Daniel O. Stram; Patrick Neven; Karin Leunen; Anja Rudolph; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Kristen N. Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Brian E. Henderson; Fredrick R. Schumacher; Natalia Bogdanova; Cheng Har Yip; Nur Aishah Taib; Ching-Yu Cheng; Martha J. Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Anna Marie Mulligan; R.A.E.M. Tollenaar; Caroline M. Seynaeve; Mieke Kriege; Ans M.W. van den Ouweland; Carolien H.M. van Deurzen; Wei Lu; Yu Tang Gao; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Lisa B. Signorello; Ching Wan Chan; Kee Seng Chia; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia-Ni Hsiung; Michael Jones; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Leslie Bernstein; Michael F. Press; Regina G. Ziegler; Robert M. Millikan; Sarah J. Nyante; Sue A. Ingles; Quinten Waisfisz; Helen Tsimiklis; Enes Makalic; Daniel F. Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kirsimari Aaltonen; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; André G. Uitterlinden; Fernando Rivadeneira; Robert Pilarski; Foluso O. Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Sebastian M. Jud; Thomas Brüning; JoEllen Weaver; Priyanka Sharma; Harsh B. Pathak; Sue Gerty; Lorraine Durcan; Dimitrios Trichopoulos; Rosario Tumino; Petra H.M. Peeters; Daniele Campa; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay-Tee Khaw; Laurence N. Kolonel; Constance Chen; Christine D. Berg; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; W. Ryan Diver; Walter C. Willett; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Georgia Chenevix-Trench; Stephen J. Chanock; Paul D.P. Pharoah; Celine M. Vachon; Douglas F. Easton; Christopher A. Haiman;Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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.eu392 citations 392 popularity Top 1% influence Top 1% impulse Top 0.1% Powered by BIP!visibility 17visibility views 17 download downloads 132 Powered bymore_vert Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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 Italy, France, Netherlands, Netherlands, Netherlands, Netherlands, Netherlands, Ireland, Canada, Netherlands, Netherlands, Netherlands, United Kingdom, Netherlands, Netherlands, Ireland, Netherlands, Netherlands, Germany, Netherlands, United KingdomSpringer Science and Business Media LLC EC | MATRICSEC| MATRICSAuthors: Hibar, Derrek P; Stein, Jason L; Aribisala, Benjamin S; de Zubicaray, Greig I; +244 AuthorsHibar, Derrek P; Stein, Jason L; Aribisala, Benjamin S; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Armstrong, Nicola J; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Bernard, Manon; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Bohlken, Marc M; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Boks, Marco P; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Bralten, Janita; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Brown, Andrew A; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; Chakravarty, M Mallar; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Chen, Qiang; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Ching, Christopher R K; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Renteria, Miguel E; Cuellar-Partida, Gabriel; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; den Braber, Anouk; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Giddaluru, Sudheer; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Goldman, Aaron L; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Grimm, Oliver; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Guadalupe, Tulio; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Hass, Johanna; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Woldehawariat, Girma; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Martin, Nicholas G; Wright, Margaret J; Franke, Barbara; Thompson, Paul M; Medland, Sarah E; Arias-Vasquez, Alejandro; Jia, Tianye; Shen, Li; Mather, Karen A; Desrivières, Sylvane; Mattheisen, Manuel; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Schmaal, Lianne; Schork, Andrew J; Strike, Lachlan T; Teumer, Alexander; Preda, Adrian; Westlye, Lars T; Whelan, Christopher D; Toro, Roberto; Winkler, Anderson M; Beiser, Alexa; DeStefano, Anita; Vaidya, Dhananjay; Vernooij, Meike W; Artiges, Eric; Ehrlich, Stefan; Banaschewski, Tobias; Boddaert, Nathalie; Bokde, Arun; Flor, Herta; Haukvik, Unn K; Miranda, Ruben; Nees, Frauke; Lopez, Lorna M; Williams, Steve; Nugent, Allison C; Sprooten, Emma; Walton, Esther; Bastin, Mark E; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E;doi: 10.1038/nature14101
pmc: PMC4393366
pmid: 25607358
handle: 1765/82772 , 1871.1/9d055530-aea0-4fb7-b981-9d4a79dc4178 , 20.500.11820/77342012-02ed-419b-904f-c5fc42863c81 , 1887/102856 , 1866/20931 , 2066/144426 , 11370/bfe12ff1-5687-4a14-82bb-57f7052a91de , 11391/1316701 , https://repository.ubn.ru.nl/handle/2066/144426 , 11858/00-001M-0000-0024-A204-2 , 11858/00-001M-0000-0026-D061-9 , 1874/331330
doi: 10.1038/nature14101
pmc: PMC4393366
pmid: 25607358
handle: 1765/82772 , 1871.1/9d055530-aea0-4fb7-b981-9d4a79dc4178 , 20.500.11820/77342012-02ed-419b-904f-c5fc42863c81 , 1887/102856 , 1866/20931 , 2066/144426 , 11370/bfe12ff1-5687-4a14-82bb-57f7052a91de , 11391/1316701 , https://repository.ubn.ru.nl/handle/2066/144426 , 11858/00-001M-0000-0024-A204-2 , 11858/00-001M-0000-0026-D061-9 , 1874/331330
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 x 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. Contains fulltext : 144426.pdf (Publisher’s version ) (Closed access) Contains fulltext : 144426pre.pdf (Author’s version preprint ) (Open Access) 6 p.
Maynooth University ... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2015Data sources: Maynooth University ePrints & eTheses ArchivePapyrus : Dépôt institutionnel - Université de Montréal; Nature; METIS Research Information System; NARCISOther literature type . Article . 2015License: Springer TDMOxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveNARCIS; NatureArticle . 2015HAL Descartes; HAL - UPEC / UPEM; HAL-Inserm; Hal-DiderotArticle . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu749 citations 749 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 2visibility views 2 download downloads 7 Powered bymore_vert Maynooth University ... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2015Data sources: Maynooth University ePrints & eTheses ArchivePapyrus : Dépôt institutionnel - Université de Montréal; Nature; METIS Research Information System; NARCISOther literature type . Article . 2015License: Springer TDMOxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveNARCIS; NatureArticle . 2015HAL Descartes; HAL - UPEC / UPEM; HAL-Inserm; Hal-DiderotArticle . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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description Publicationkeyboard_double_arrow_right Article 2008 NetherlandsElsevier BV Max Dahele; Shannon Pearson; Thomas G. Purdie; Jean-Pierre Bissonnette; Kevin Franks; Anthony Brade; John Cho; Alexander Sun; A. Hope; Andrea Marshall; Jane Higgins; Andrea Bezjak;pmid: 18978570
Introduction: With the anticipation of improved outcomes, especially for patients with early-stage non-small cell lung cancer, stereotactic body radiation therapy (SBRT) has been rapidly introduced into the thoracic radiation oncology community. Although at first glance lung SBRT might seem methodologically similar to conventional radiotherapy, there are important differences in its execution that require particular consideration. The objective of this paper is to highlight these and other issues to contribute to the safe and effective diffusion of lung SBRT. We discuss practical challenges that have been encountered in the implementation of lung SBRT at a single, large institution and emphasize the importance of a systematic approach to the design of lung SBRT services. Methods: Specific technical and clinical components that were identified as being important during the development of lung SBRT at Princess Margaret Hospital are described. The clinical system that evolved from these is outlined. Results: Using this clinical framework the practical topics addressed include: patient assessment, simulation and treatment planning, tumor and organ at risk delineation, trial set up before treatment, on-line image-guidance, and patient follow-up. Conclusions: The potential gain in therapeutic ratio that is theoretically possible with lung SBRT can only be realized if the tumor is adequately irradiated and normal tissue spared. A discussion of the component parts of lung SBRT is presented. It is a complex process and specific challenges need to be overcome to effect the satisfactory transition of lung SBRT into routine practice.
Journal of Thoracic ... arrow_drop_down 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.eu41 citations 41 popularity Average influence Top 10% impulse Top 10% Powered by BIP!more_vert Journal of Thoracic ... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 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.
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For further information contact us at helpdesk@openaire.eu22 citations 22 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 CanadaResearch Square Platform LLC Susan Hunter; Alison Divine; Humberto Omana; Edward Madou; Jeffrey Holmes;Abstract Background Balance and gait problems are common and progressive in dementia. Use of a mobility aid provides physical support and confidence. Yet, mobility aid use in people with dementia increases falls three-fold. An assessment tool of mobility aid safety in people with dementia does not currently exist. The objectives of this study were: 1) to develop a tool for the evaluation of physical function and safe use of a 4-wheeled walker in people with dementia, and 2) to evaluate its construct and criterion validity, inter-rater and test-retest reliability and minimal detectable change. Methods Healthcare professionals (HCP) experienced in rehabilitation of people with dementia participated in focus groups for item generation of the new tool, The Safe Use of Mobility Aid Checklist (SUMAC). The SUMAC evaluates physical function (PF) and safe use of the equipment (EQ) on nine tasks of daily life. Reliability was evaluated by HCP (n = 5) scored participant videos of people with dementia (n = 10) using a 4-wheeled walker performing the SUMAC. Inter-rater and test-retest reliability was assessed using intra-class correlation coefficients (ICC). Construct validity evaluated scores of the HCPs to a consensus HCP panel using Spearman’s rank-order correlations. Criterion validity evaluated SUMAC-PF to the Performance-Oriented Mobility Assessment (POMA) gait subscale using Spearman’s rank-order correlations. Results Three focus groups (n = 17) generated a tool comprised of nine tasks and the components within each task for physical function and safe use. Inter-rater reliability was statistically significant for SUMAC-PF (ICC = 0.92, 95%CI (0.81, 0.98), p < 0.001) and SUMAC-EQ. (ICC = 0.82, 95%CI (0.54, 0.95), p < 0.001). Test-retest reliability was statistically significant for SUMAC-PF (ICC = 0.89, 95%CI (0.81, 0.94), p < 0.001) and SUMAC-EQ. (ICC = 0.88, 95%CI (0.79, 0.93), p < 0.001). As hypothesized, the POMA gait subscale correlated strongly with the SUMAC-PF (rs = 0.84), but not EQ (rs = 0.39). Conclusions The focus groups and research team developed a tool of nine tasks with evaluation on physical function and safe use of a 4-wheeled walker for people with dementia. The SUMAC tool has demonstrated content validity for the whole scale and good construct and criterion validity for the SUMAC-PF and SUMAC-EQ. The subscores of the SUMAC demonstrated excellent to good inter-rater and test-retest reliability.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Average influence Average impulse Average Powered by BIP!visibility 2visibility views 2 download downloads 12 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 CanadaElsevier BV Aras Kayvanrad; Stephen R. Arnott; Nathan W. Churchill; Stefanie Hassel; Aditi Chemparathy; Fan Dong; Mojdeh Zamyadi; Tom Gee; Robert Bartha; Sandra E. Black; Jane M. Lawrence-Dewar; Christopher J.M. Scott; Sean P. Symons; Andrew D. Davis; Geoffrey B. Hall; Jacqueline K. Harris; Nancy J. Lobaugh; Glenda MacQueen; Cindy Woo; Stephen C. Strother;pmid: 34029737
Quality assurance (QA) is crucial in longitudinal and/or multi-site studies, which involve the collection of data from a group of subjects over time and/or at different locations. It is important to regularly monitor the performance of the scanners over time and at different locations to detect and control for intrinsic differences (e.g., due to manufacturers) and changes in scanner performance (e.g., due to gradual component aging, software and/or hardware upgrades, etc.). As part of the Ontario Neurodegenerative Disease Research Initiative (ONDRI) and the Canadian Biomarker Integration Network in Depression (CAN-BIND), QA phantom scans were conducted approximately monthly for three to four years at 13 sites across Canada with 3T research MRI scanners. QA parameters were calculated for each scan using the functional Biomarker Imaging Research Network's (fBIRN) QA phantom and pipeline to capture between- and within-scanner variability. We also describe a QA protocol to measure the full-width-at-half-maximum (FWHM) of slice-wise point spread functions (PSF), used in conjunction with the fBIRN QA parameters. Variations in image resolution measured by the FWHM are a primary source of variance over time for many sites, as well as between sites and between manufacturers. We also identify an unexpected range of instabilities affecting individual slices in a number of scanners, which may amount to a substantial contribution of unexplained signal variance to their data. Finally, we identify a preliminary preprocessing approach to reduce this variance and/or alleviate the slice anomalies, and in a small human data set show that this change in preprocessing can have a significant impact on seed-based connectivity measurements for some individual subjects. We expect that other fMRI centres will find this approach to identifying and controlling scanner instabilities useful in similar studies.
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For further information contact us at helpdesk@openaire.eu5 citations 5 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaSpringer Science and Business Media LLC Palma, David A.; Olson, Robert; Harrow, Stephen; Correa, Rohann J.M.; Schneiders, Famke; Haasbeek, Cornelis J.A.; Rodrigues, George B.; Lock, Michael; Yaremko, Brian P.; Bauman, Glenn S.; Ahmad, Belal; Schellenberg, Devin; Liu, Mitchell; Gaede, Stewart; Laba, Joanna; Mulroy, Liam; Senthi, Sashendra; Louie, Alexander V.; Swaminath, Anand; Chalmers, Anthony; Warner, Andrew; Slotman, Ben J.; de Gruijl, Tanja D.; Allan, Alison; Senan, Suresh;Background Stereotactic ablative radiotherapy (SABR) has emerged as a new treatment option for patients with oligometastatic disease. SABR delivers precise, high-dose, hypofractionated radiotherapy, and achieves excellent rates of local control for primary tumors or metastases. A recent randomized phase II trial evaluated SABR in a group of patients with a small burden of oligometastatic disease (mostly with 1–3 metastatic lesions), and found that SABR was associated with benefits in progression-free survival and overall survival. The goal of this phase III trial is to assess the impact of SABR in patients with 4–10 metastatic cancer lesions. Methods One hundred and fifty-nine patients will be randomized in a 1:2 ratio between the control arm (consisting of standard of care palliative-intent treatments), and the SABR arm (consisting of standard of care treatment + SABR to all sites of known disease). Randomization will be stratified by two factors: histology (Group 1: prostate, breast, or renal; Group 2: all others), and type of pre-specified systemic therapy (Group 1: immunotherapy/targeted; Group 2: cytotoxic; Group 3: observation). SABR is to be completed within 2 weeks, allowing for rapid initiation of systemic therapy. Recommended SABR doses are 20 Gy in 1 fraction, 30 Gy in 3 fractions, or 35 Gy in 5 fractions, chosen to minimize risks of toxicity. The primary endpoint is overall survival, and secondary endpoints include progression-free survival, time to development of new metastatic lesions, quality of life, and toxicity. Translational endpoints include assessment of circulating tumor cells, cell-free DNA, and tumor tissue as prognostic and predictive markers, including assessment of immunological predictors of response and long-term survival. Discussion This study will provide an assessment of the impact of SABR on clinical outcomes and quality of life, to determine if long-term survival can be achieved for selected patients with 4–10 oligometastatic lesions. Trial registration Clinicaltrials.gov identifier: NCT03721341. Date of registration: October 26, 2018. Electronic supplementary material The online version of this article (10.1186/s12885-019-5977-6) contains supplementary material, which is available to authorized users.
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For further information contact us at helpdesk@openaire.eu169 citations 169 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 0visibility views 0 download downloads 6 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 NetherlandsOvid Technologies (Wolters Kluwer Health) Merseburger, Axel S; Castellano, Daniel; Powles, Thomas; Loriot, Yohann; Retz, Margitta; Voortman, Jens; Huddart, Robert A; Gedye, Craig; Van Der Heijden, Michiel S; Gurney, Howard; Ong, Michael; de Ducla, Sabine; Pavlova, Julie; Fear, Simon; Sternberg, Cora N;pmid: 33940928
PURPOSE: Atezolizumab is an established treatment option for pretreated urothelial carcinoma, demonstrating efficacy in phase II/III trials. The SAUL study enrolled a broader patient population to determine safety and efficacy in underrepresented subgroups. MATERIALS AND METHODS: Patients with metastatic urinary tract carcinoma received atezolizumab 1,200 mg every 3 weeks until disease progression, unacceptable toxicity, loss of clinical benefit, or patient/physician decision. The primary endpoint was safety. Efficacy was a secondary endpoint. Analyses by programmed cell death ligand-1 (PD-L1) status, age, Eastern Cooperative Oncology Group performance status (ECOG PS) and renal impairment were prespecified; post hoc analyses explored outcomes by tumor location. RESULTS: A total of 1,004 patients were enrolled. Subgroup analyses in patients with older age, renal impairment, or upper tract urothelial carcinoma showed safety and efficacy similar to those in patients without these characteristics. Patients with ECOG PS 2 had clinical features typically associated with aggressive disease; median overall survival was 2.3 months versus 10.0 months in patients with ECOG PS0/1. Patients with PD-L1 expression on ≥5% of tumor-infiltrating immune cells tended to have better outcomes than those with <5% PD-L1 expression, although conclusions on the relative efficacy of atezolizumab cannot be drawn from this single-arm study. CONCLUSIONS: The understudied populations included in the SAUL study had similar outcomes to those in more selected populations included in phase II/III trials of atezolizumab, except for those with ECOG PS 2. Age ≥80 years and/or creatinine clearance <30 ml/minute does not preclude administration of atezolizumab; however, treatment risk versus benefit must be carefully assessed in patients with ECOG PS 2.
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For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Top 10% influence Average impulse Average Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, Netherlands, Netherlands, United Kingdom, Germany, NetherlandsAmerican Psychiatric Association Publishing WT | Stratifying Resilience an..., NIH | ENIGMA-SD: Understanding ..., NIH | A Network Approach to Stu... +10 projectsWT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| ENIGMA-SD: Understanding Sex Differences in Global Mental Health through ENIGMA ,NIH| A Network Approach to Study Brain Plasticity in Children with Cognitive Training ,NIH| ENIGMA Center for Worldwide Medicine, Imaging & Genomics ,NIH| A Cross-Sectional and Longitudinal Functional MRI Study of Adolescent Depression ,EC| IMAGEMEND ,NIH| The Roles of Inflammatory and Glutamatergic Processes in the Neurodevelopmental Mechanisms Underlying Adolescent Depression ,NHMRC| Neural predictors of treatment response in youth depression ,NIH| Fronto-limbic Connectivity in Adolescents with MDD ,NHMRC| Neuroimaging in mental health: the quest for clinically useful biomarkers ,NIH| C13 SPECTROSCOPY W/ PROTON DECOUPLING IN HUMANS AT 4 TESLA ,NHMRC| First-Line Management of Youth Depression: A Randomised Placebo-Controlled Trial of Fluoxetine and Cognitive Behavioural Therapy ,NHMRC| Advancing our understanding of the genetics of Psychiatric and Neurological DiseaseAuthors: Carolien G.F. de Kovel; Lyubomir I. Aftanas; André Aleman; Aaron Alexander-Bloch; +74 AuthorsCarolien G.F. de Kovel; Lyubomir I. Aftanas; André Aleman; Aaron Alexander-Bloch; Bernhard T. Baune; Ivan Brack; Robin Bülow; Geraldo Busatto Filho; Angela Carballedo; Colm G. Connolly; Kathryn R. Cullen; Udo Dannlowski; Christopher G. Davey; Danai Dima; Katharina Dohm; Tracy Erwin-Grabner; Thomas Frodl; Cynthia H.Y. Fu; Geoffrey B. Hall; David C. Glahn; Beata R. Godlewska; Ian H. Gotlib; Roberto Goya-Maldonado; Hans J. Grabe; Nynke A. Groenewold; Dominik Grotegerd; Oliver Gruber; Mathew A. Harris; Ben J. Harrison; Sean N. Hatton; Ian B. Hickie; Tiffany C. Ho; Neda Jahanshad; Tilo Kircher; Bernd Kramer; Axel Krug; Jim Lagopoulos; Elisabeth J. Leehr; Meng Li; Frank P. MacMaster; Glenda MacQueen; Andrew M. McIntosh; Quinn McLellan; Sarah E. Medland; Bryon A. Mueller; Igor Nenadic; Evgeny Osipov; Martina Papmeyer; Maria J. Portella; Liesbeth Reneman; Pedro G.P. Rosa; Matthew D. Sacchet; Knut Schnell; Anouk Schrantee; Kang Sim; Egle Simulionyte; Lisa Sindermann; Aditya Singh; Dan J. Stein; Benjamin Ubani; Nic J.A. van der Wee; Steven J.A. van der Werff; Ilya M. Veer; Yolanda Vives-Gilabert; Henry Völzke; Henrik Walter; Martin Walter; Melinda Westlund Schreiner; Heather C. Whalley; Nils R. Winter; Katharina Wittfeld; Tony T. Yang; Dilara Yüksel; Dario Zaremba; Paul M. Thompson; Dick J. Veltman; Lianne Schmaal; Clyde Francks;Objective: Asymmetry is a subtle but pervasive aspect of the human brain, and it may be altered in several psychiatric conditions. MRI studies have shown subtle differences of brain anatomy between people with major depressive disorder and healthy control subjects, but few studies have specifically examined brain anatomical asymmetry in relation to this disorder, and results from those studies have remained inconclusive. At the functional level, some electroencephalography studies have indicated left fronto-cortical hypoactivity and right parietal hypoactivity in depressive disorders, so aspects of lateralized anatomy may also be affected. The authors used pooled individual-level data from data sets collected around the world to investigate differences in laterality in measures of cortical thickness, cortical surface area, and subcortical volume between individuals with major depression and healthy control subjects.Methods: The authors investigated differences in the laterality of thickness and surface area measures of 34 cerebral cortical regions in 2,256 individuals with major depression and 3,504 control subjects from 31 separate data sets, and they investigated volume asymmetries of eight subcortical structures in 2,540 individuals with major depression and 4,230 control subjects from 32 data sets. T-1-weighted MRI data were processedwith a single protocol using FreeSurfer and the Desikan-Killiany atlas. The large sample size provided 80% power to detect effects of the order of Cohen's d=0.1.Results: The largest effect size (Cohen's d) of major depression diagnosis was 0.085 for the thickness asymmetry of the superior temporal cortex, which was not significant after adjustment for multiple testing. Asymmetry measures were not significantly associated with medication use, acute compared with remitted status, first episode compared with recurrent status, or age at onset.Conclusions: Altered brain macro-anatomical asymmetry may be of little relevance to major depression etiology in most cases.
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For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 3visibility views 3 download downloads 135 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
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For further information contact us at helpdesk@openaire.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2013 Netherlands, Ireland, United Kingdom, ItalySpringer Science and Business Media LLC NIH | Characterizing Genetic Su..., NIH | Breast &Prostate Cancer &..., NIH | Breast &prostate cancer &... +6 projectsNIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer: The BPC3. ,NIH| Breast &Prostate Cancer &Hormone-related Gene Variants ,NIH| Breast &prostate cancer &hormone-related gene variants ,EC| COGS ,NIH| Genetic epidemiology of cell division regulation in breast cancer ,WT ,CIHR ,NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer;the BPC3 ,NIH| Discovery Expansion and ReplicationAuthors: Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; +207 AuthorsMontserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Loic Le Marchand; Julie E. Buring; Diana Eccles; Penelope Miron; Hiltrud Brauch; Jane Carpenter; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Elinor J. Sawyer; Antoinette Hollestelle; Olivia Fletcher; Hermann Brenner; Ute Hamann; Alfons Meindl; Peter Devillee; Mark S. Goldberg; Jan Lubinski; Vessela N. Kristensen; Anthony J. Swerdlow; Hoda Anton-Culver; Thilo Dörk; Kenneth Muir; Keitaro Matsuo; Anna H. Wu; Paolo Radice; Soo Hwang Teo; Xiao-Ou Shu; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen-Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Laura J. van't Veer; Emiel J. Th. Rutgers; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Arif B. Ekici; Matthias W. Beckmann; Isabel dos Santos Silva; Helen R. Warren; Michael J. Kerin; Nicola Miller; Federick Marme; Christof Sohn; Thérèse Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Magdalena Lochmann; Taru A. Muranen; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hiroji Iwata; Yasushi Yatabe; Natalia Antonenkova; Sara Margolin; Vesa Kataja; Veli-Matti Kosma; Jaana M. Hartikainen; Daniel O. Stram; Patrick Neven; Karin Leunen; Anja Rudolph; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Kristen N. Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Brian E. Henderson; Fredrick R. Schumacher; Natalia Bogdanova; Cheng Har Yip; Nur Aishah Taib; Ching-Yu Cheng; Martha J. Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Anna Marie Mulligan; R.A.E.M. Tollenaar; Caroline M. Seynaeve; Mieke Kriege; Ans M.W. van den Ouweland; Carolien H.M. van Deurzen; Wei Lu; Yu Tang Gao; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Lisa B. Signorello; Ching Wan Chan; Kee Seng Chia; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia-Ni Hsiung; Michael Jones; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Leslie Bernstein; Michael F. Press; Regina G. Ziegler; Robert M. Millikan; Sarah J. Nyante; Sue A. Ingles; Quinten Waisfisz; Helen Tsimiklis; Enes Makalic; Daniel F. Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kirsimari Aaltonen; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; André G. Uitterlinden; Fernando Rivadeneira; Robert Pilarski; Foluso O. Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Sebastian M. Jud; Thomas Brüning; JoEllen Weaver; Priyanka Sharma; Harsh B. Pathak; Sue Gerty; Lorraine Durcan; Dimitrios Trichopoulos; Rosario Tumino; Petra H.M. Peeters; Daniele Campa; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay-Tee Khaw; Laurence N. Kolonel; Constance Chen; Christine D. Berg; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; W. Ryan Diver; Walter C. Willett; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Georgia Chenevix-Trench; Stephen J. Chanock; Paul D.P. Pharoah; Celine M. Vachon; Douglas F. Easton; Christopher A. Haiman;Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu392 citations 392 popularity Top 1% influence Top 1% impulse Top 0.1% Powered by BIP!visibility 17visibility views 17 download downloads 132 Powered bymore_vert Nature Genetics; Oxf... arrow_drop_down Nature Genetics; Oxford University Research Archive; Archivio della Ricerca - Università di Pisa; NARCISOther literature type . Article . 2013 . 2016License: Springer TDMArchivio della Ricerca - Università di PisaArticle . 2013Data sources: Archivio della Ricerca - Università di PisaLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2013add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2015 Italy, France, Netherlands, Netherlands, Netherlands, Netherlands, Netherlands, Ireland, Canada, Netherlands, Netherlands, Netherlands, United Kingdom, Netherlands, Netherlands, Ireland, Netherlands, Netherlands, Germany, Netherlands, United KingdomSpringer Science and Business Media LLC EC | MATRICSEC| MATRICSAuthors: Hibar, Derrek P; Stein, Jason L; Aribisala, Benjamin S; de Zubicaray, Greig I; +244 AuthorsHibar, Derrek P; Stein, Jason L; Aribisala, Benjamin S; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Armstrong, Nicola J; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Bernard, Manon; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Bohlken, Marc M; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Boks, Marco P; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Bralten, Janita; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Brown, Andrew A; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; Chakravarty, M Mallar; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Chen, Qiang; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Ching, Christopher R K; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Renteria, Miguel E; Cuellar-Partida, Gabriel; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; den Braber, Anouk; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Giddaluru, Sudheer; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Goldman, Aaron L; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Grimm, Oliver; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Guadalupe, Tulio; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Hass, Johanna; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Woldehawariat, Girma; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Martin, Nicholas G; Wright, Margaret J; Franke, Barbara; Thompson, Paul M; Medland, Sarah E; Arias-Vasquez, Alejandro; Jia, Tianye; Shen, Li; Mather, Karen A; Desrivières, Sylvane; Mattheisen, Manuel; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Schmaal, Lianne; Schork, Andrew J; Strike, Lachlan T; Teumer, Alexander; Preda, Adrian; Westlye, Lars T; Whelan, Christopher D; Toro, Roberto; Winkler, Anderson M; Beiser, Alexa; DeStefano, Anita; Vaidya, Dhananjay; Vernooij, Meike W; Artiges, Eric; Ehrlich, Stefan; Banaschewski, Tobias; Boddaert, Nathalie; Bokde, Arun; Flor, Herta; Haukvik, Unn K; Miranda, Ruben; Nees, Frauke; Lopez, Lorna M; Williams, Steve; Nugent, Allison C; Sprooten, Emma; Walton, Esther; Bastin, Mark E; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E;doi: 10.1038/nature14101
pmc: PMC4393366
pmid: 25607358
handle: 1765/82772 , 1871.1/9d055530-aea0-4fb7-b981-9d4a79dc4178 , 20.500.11820/77342012-02ed-419b-904f-c5fc42863c81 , 1887/102856 , 1866/20931 , 2066/144426 , 11370/bfe12ff1-5687-4a14-82bb-57f7052a91de , 11391/1316701 , https://repository.ubn.ru.nl/handle/2066/144426 , 11858/00-001M-0000-0024-A204-2 , 11858/00-001M-0000-0026-D061-9 , 1874/331330
doi: 10.1038/nature14101
pmc: PMC4393366
pmid: 25607358
handle: 1765/82772 , 1871.1/9d055530-aea0-4fb7-b981-9d4a79dc4178 , 20.500.11820/77342012-02ed-419b-904f-c5fc42863c81 , 1887/102856 , 1866/20931 , 2066/144426 , 11370/bfe12ff1-5687-4a14-82bb-57f7052a91de , 11391/1316701 , https://repository.ubn.ru.nl/handle/2066/144426 , 11858/00-001M-0000-0024-A204-2 , 11858/00-001M-0000-0026-D061-9 , 1874/331330
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 x 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. Contains fulltext : 144426.pdf (Publisher’s version ) (Closed access) Contains fulltext : 144426pre.pdf (Author’s version preprint ) (Open Access) 6 p.
Maynooth University ... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2015Data sources: Maynooth University ePrints & eTheses ArchivePapyrus : Dépôt institutionnel - Université de Montréal; Nature; METIS Research Information System; NARCISOther literature type . Article . 2015License: Springer TDMOxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveNARCIS; NatureArticle . 2015HAL Descartes; HAL - UPEC / UPEM; HAL-Inserm; Hal-DiderotArticle . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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/nature14101&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu749 citations 749 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 2visibility views 2 download downloads 7 Powered bymore_vert Maynooth University ... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2015Data sources: Maynooth University ePrints & eTheses ArchivePapyrus : Dépôt institutionnel - Université de Montréal; Nature; METIS Research Information System; NARCISOther literature type . Article . 2015License: Springer TDMOxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveNARCIS; NatureArticle . 2015HAL Descartes; HAL - UPEC / UPEM; HAL-Inserm; Hal-DiderotArticle . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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/nature14101&type=result"></script>'); --> </script>
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