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description Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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=10.1080/11038128.2020.1764094&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Review , Article , Other literature type 2021 Canada, Netherlands, Belgium, Netherlands, United Kingdom, United States, NetherlandsAmerican Society of Neuroradiology (ASNR) Laura Saba; Waleed Brinjikji; J. D. Spence; Max Wintermark; Mauricio Castillo; Gert J. de Borst; Qi Yang; Chun Yuan; Andrew J. Buckler; Myriam Edjlali; Tobias Saam; David Saloner; Brajesh K. Lal; D. Capodanno; Jie Sun; Niranjan Balu; Ross Naylor; Aad van der Lugt; Bruce A. Wasserman; ME Marianne Eline Kooi; Joanna M. Wardlaw; Jonathan H. Gillard; G. Lanzino; Ulf Hedin; David J. Mikulis; Ajay Gupta; J. K. DeMarco; Christopher P. Hess; J. V. Goethem; T. S. Hatsukami; Peter M. Rothwell; Martin M. Brown; Alan R. Moody;Abstract: Current guidelines for primary and secondary prevention of stroke in patients with carotid atherosclerosis are based on the quantification of the degree of stenosis and symptom status. Recent publications have demonstrated that plaque morphology and composition, independent of the degree of stenosis, are important in the risk stratification of carotid atherosclerotic disease. This finding raises the question as to whether current guidelines are adequate or if they should be updated with new evidence, including imaging for plaque phenotyping, risk stratification, and clinical decision-making in addition to the degree of stenosis. To further this discussion, this roadmap consensus article defines the limits of luminal imaging and highlights the current evidence supporting the role of plaque imaging. Furthermore, we identify gaps in current knowledge and suggest steps to generate high-quality evidence, to add relevant information to guidelines currently based on the quantification of stenosis.
American Journal of ... arrow_drop_down American Journal of NeuroradiologyOther literature type . Article . 2021American Journal of NeuroradiologyReview . 2021eScholarship - University of CaliforniaArticle . 2021Data sources: eScholarship - University of CaliforniaAmerican Journal of NeuroradiologyArticle . 2021Data sources: Institutional Repository Universiteit AntwerpenAmerican Journal of NeuroradiologyReview . 2021Data sources: Maastricht University | MUMC+ Research Informationadd 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=10.3174/ajnr.a7223&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu12 citations 12 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert American Journal of ... arrow_drop_down American Journal of NeuroradiologyOther literature type . Article . 2021American Journal of NeuroradiologyReview . 2021eScholarship - University of CaliforniaArticle . 2021Data sources: eScholarship - University of CaliforniaAmerican Journal of NeuroradiologyArticle . 2021Data sources: Institutional Repository Universiteit AntwerpenAmerican Journal of NeuroradiologyReview . 2021Data sources: Maastricht University | MUMC+ Research Informationadd 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=10.3174/ajnr.a7223&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2019 Netherlands, Switzerland, Canada, United Kingdom, United States, SwitzerlandWiley Martin Wilson; Ovidiu C. Andronesi; Peter B. Barker; Robert Bartha; Alberto Bizzi; Patrick J. Bolan; Kevin M. Brindle; In-Young Choi; Cristina Cudalbu; Ulrike Dydak; Uzay E. Emir; Ramon Gonzalez; Stephan Gruber; Rolf Gruetter; Rakesh Gupta; Arend Heerschap; Anke Henning; Hoby P. Hetherington; Petra Susan Hüppi; Ralph E. Hurd; Kejal Kantarci; Risto A. Kauppinen; Dennis W. J. Klomp; Roland Kreis; Marijn J. Kruiskamp; Martin O. Leach; Alexander P. Lin; Peter R. Luijten; Małgorzata Marjańska; Andrew A. Maudsley; Dieter J. Meyerhoff; Carolyn E. Mountford; Paul G. Mullins; James B. Murdoch; Sarah J. Nelson; Ralph Noeske; Gülin Öz; Julie W Pan; Andrew C. Peet; Harish Poptani; Stefan Posse; Eva-Maria Ratai; Nouha Salibi; Tom W. J. Scheenen; Ian C.P. Smith; Brian J. Soher; Ivan Tkáč; Daniel B. Vigneron; Franklyn A. Howe;pmid: 30919510
pmc: PMC7179569
Proton MRS ((1) H MRS) provides noninvasive, quantitative metabolite profiles of tissue and has been shown to aid the clinical management of several brain diseases. Although most modern clinical MR scanners support MRS capabilities, routine use is largely restricted to specialized centers with good access to MR research support. Widespread adoption has been slow for several reasons, and technical challenges toward obtaining reliable good-quality results have been identified as a contributing factor. Considerable progress has been made by the research community to address many of these challenges, and in this paper a consensus is presented on deficiencies in widely available MRS methodology and validated improvements that are currently in routine use at several clinical research institutions. In particular, the localization error for the PRESS localization sequence was found to be unacceptably high at 3 T, and use of the semi-adiabatic localization by adiabatic selective refocusing sequence is a recommended solution. Incorporation of simulated metabolite basis sets into analysis routines is recommended for reliably capturing the full spectral detail available from short TE acquisitions. In addition, the importance of achieving a highly homogenous static magnetic field (B0 ) in the acquisition region is emphasized, and the limitations of current methods and hardware are discussed. Most recommendations require only software improvements, greatly enhancing the capabilities of clinical MRS on existing hardware. Implementation of these recommendations should strengthen current clinical applications and advance progress toward developing and validating new MRS biomarkers for clinical use. Contains fulltext : 205502.pdf (Publisher’s version ) (Closed access)
CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaInfoscience - EPFL scientific publicationsOther literature typeData sources: Infoscience - EPFL scientific publicationsMagnetic Resonance in Medicine; Radboud Repository; METIS Research Information SystemArticle . 2019License: Wiley Online Library User Agreementadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/mrm.27742&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu272 citations 272 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 5visibility views 5 download downloads 95 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaInfoscience - EPFL scientific publicationsOther literature typeData sources: Infoscience - EPFL scientific publicationsMagnetic Resonance in Medicine; Radboud Repository; METIS Research Information SystemArticle . 2019License: Wiley Online Library User Agreementadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/mrm.27742&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Review , Other literature type 2017 Netherlands, Canada, United Kingdom, United Kingdom, GermanyBMJ WT | Wellcome Trust Sanger Ins...WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papersMargot R.F. Reijnders; Robert Janowski; Mohsan Alvi; Jay E. Self; Ton van Essen; Maaike Vreeburg; Rob P.W. Rouhl; Servi J. C. Stevens; Alexander P.A. Stegmann; Jolanda H. Schieving; Rolph Pfundt; Katinke Van Dijk; Eric Smeets; Connie T.R.M. Stumpel; Levinus A. Bok; Jan Maarten Cobben; Marc Engelen; Sahar Mansour; Margo Whiteford; Kate Chandler; Sofia Douzgou; Nicola S. Cooper; Ene-Choo Tan; Roger Foo; Angeline H. M. Lai; Julia Rankin; Andrew Green; Tuula Lönnqvist; Pirjo Isohanni; Shelley Williams; Ilene S. Ruhoy; Karen S. Carvalho; James J. Dowling; Dorit Lev; Katalin Sterbova; Petra Laššuthová; Jana Neupauerová; Jeff L. Waugh; Sotirios Keros; Jill Clayton-Smith; Sarah F. Smithson; Han G. Brunner; Ceciel Van Hoeckel; Mel Anderson; Virginia Clowes; Victoria Mok Siu; Paulo Selber; Richard J. Leventer; Christoffer Nellåker; Dierk Niessing; David Hunt; Diana Baralle;BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. RESULTS: We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. CONCLUSION: We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity. Contains fulltext : 190731.pdf (Publisher’s version ) (Open Access)
Europe PubMed Centra... arrow_drop_down Journal of Medical Genetics; METIS Research Information SystemOther literature type . Article . 2017 . 2018Publication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)Radboud Repository; Journal of Medical GeneticsArticle . 2018Oxford University Research ArchiveOther literature type . 2017License: CC BY NCData sources: Oxford University Research Archiveadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1136/jmedgenet-2017-104946&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu63 citations 63 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!visibility 5visibility views 5 download downloads 113 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Journal of Medical Genetics; METIS Research Information SystemOther literature type . Article . 2017 . 2018Publication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)Radboud Repository; Journal of Medical GeneticsArticle . 2018Oxford University Research ArchiveOther literature type . 2017License: CC BY NCData sources: Oxford University Research Archiveadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1136/jmedgenet-2017-104946&type=result"></script>'); --> </script>
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description Publicationkeyboard_double_arrow_right Other literature type , Article , Review 2020 CanadaInforma UK Limited Carrie Anne Marshall; Leonie Boland; Lee Ann Westover; Roxanne Isard; Sharon A. Gutman;Background: Although systematic and scoping reviews have identified a range of interventions for persons experiencing homelessness, no known reviews have captured the range and quality of intervention studies aimed at supporting a transition from homelessness. Objectives: To capture the range and quality of occupational therapy intervention studies aimed at supporting a transition to housing following homelessness. Method: Using Joanna Briggs Institute (JBI) guidelines, we conducted a systematic review including a critical appraisal and narrative synthesis of experimental studies. Results: Eleven studies were included. Critical appraisal scores ranged from 33.3 to 88.9 of a possible score of 100 (Mdn = 62.5; IQR = 33.4). The majority of studies evaluated interventions for the development of life skills (n = 9; 81.8%), and all were conducted in the USA. Several of the included studies were exploratory evaluation and feasibility studies, and all were quasi-experimental in design. Only three studies (27.2%) incorporated a control group. Intervention strategies included (1) integrated group and individual life skills interventions (n = 6); (2) group-based life skills interventions (n = 3); and (3) psychosocial and consultative interventions (n = 2). Conclusions: Research evaluating occupational therapy interventions aimed at supporting homeless individuals as they transition to housing is in an early stage of development. Significance: Implications for research and practice are discussed.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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=10.1080/11038128.2020.1764094&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu13 citations 13 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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=10.1080/11038128.2020.1764094&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Review , Article , Other literature type 2021 Canada, Netherlands, Belgium, Netherlands, United Kingdom, United States, NetherlandsAmerican Society of Neuroradiology (ASNR) Laura Saba; Waleed Brinjikji; J. D. Spence; Max Wintermark; Mauricio Castillo; Gert J. de Borst; Qi Yang; Chun Yuan; Andrew J. Buckler; Myriam Edjlali; Tobias Saam; David Saloner; Brajesh K. Lal; D. Capodanno; Jie Sun; Niranjan Balu; Ross Naylor; Aad van der Lugt; Bruce A. Wasserman; ME Marianne Eline Kooi; Joanna M. Wardlaw; Jonathan H. Gillard; G. Lanzino; Ulf Hedin; David J. Mikulis; Ajay Gupta; J. K. DeMarco; Christopher P. Hess; J. V. Goethem; T. S. Hatsukami; Peter M. Rothwell; Martin M. Brown; Alan R. Moody;Abstract: Current guidelines for primary and secondary prevention of stroke in patients with carotid atherosclerosis are based on the quantification of the degree of stenosis and symptom status. Recent publications have demonstrated that plaque morphology and composition, independent of the degree of stenosis, are important in the risk stratification of carotid atherosclerotic disease. This finding raises the question as to whether current guidelines are adequate or if they should be updated with new evidence, including imaging for plaque phenotyping, risk stratification, and clinical decision-making in addition to the degree of stenosis. To further this discussion, this roadmap consensus article defines the limits of luminal imaging and highlights the current evidence supporting the role of plaque imaging. Furthermore, we identify gaps in current knowledge and suggest steps to generate high-quality evidence, to add relevant information to guidelines currently based on the quantification of stenosis.
American Journal of ... arrow_drop_down American Journal of NeuroradiologyOther literature type . Article . 2021American Journal of NeuroradiologyReview . 2021eScholarship - University of CaliforniaArticle . 2021Data sources: eScholarship - University of CaliforniaAmerican Journal of NeuroradiologyArticle . 2021Data sources: Institutional Repository Universiteit AntwerpenAmerican Journal of NeuroradiologyReview . 2021Data sources: Maastricht University | MUMC+ Research Informationadd 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=10.3174/ajnr.a7223&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu12 citations 12 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert American Journal of ... arrow_drop_down American Journal of NeuroradiologyOther literature type . Article . 2021American Journal of NeuroradiologyReview . 2021eScholarship - University of CaliforniaArticle . 2021Data sources: eScholarship - University of CaliforniaAmerican Journal of NeuroradiologyArticle . 2021Data sources: Institutional Repository Universiteit AntwerpenAmerican Journal of NeuroradiologyReview . 2021Data sources: Maastricht University | MUMC+ Research Informationadd 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=10.3174/ajnr.a7223&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2019 Netherlands, Switzerland, Canada, United Kingdom, United States, SwitzerlandWiley Martin Wilson; Ovidiu C. Andronesi; Peter B. Barker; Robert Bartha; Alberto Bizzi; Patrick J. Bolan; Kevin M. Brindle; In-Young Choi; Cristina Cudalbu; Ulrike Dydak; Uzay E. Emir; Ramon Gonzalez; Stephan Gruber; Rolf Gruetter; Rakesh Gupta; Arend Heerschap; Anke Henning; Hoby P. Hetherington; Petra Susan Hüppi; Ralph E. Hurd; Kejal Kantarci; Risto A. Kauppinen; Dennis W. J. Klomp; Roland Kreis; Marijn J. Kruiskamp; Martin O. Leach; Alexander P. Lin; Peter R. Luijten; Małgorzata Marjańska; Andrew A. Maudsley; Dieter J. Meyerhoff; Carolyn E. Mountford; Paul G. Mullins; James B. Murdoch; Sarah J. Nelson; Ralph Noeske; Gülin Öz; Julie W Pan; Andrew C. Peet; Harish Poptani; Stefan Posse; Eva-Maria Ratai; Nouha Salibi; Tom W. J. Scheenen; Ian C.P. Smith; Brian J. Soher; Ivan Tkáč; Daniel B. Vigneron; Franklyn A. Howe;pmid: 30919510
pmc: PMC7179569
Proton MRS ((1) H MRS) provides noninvasive, quantitative metabolite profiles of tissue and has been shown to aid the clinical management of several brain diseases. Although most modern clinical MR scanners support MRS capabilities, routine use is largely restricted to specialized centers with good access to MR research support. Widespread adoption has been slow for several reasons, and technical challenges toward obtaining reliable good-quality results have been identified as a contributing factor. Considerable progress has been made by the research community to address many of these challenges, and in this paper a consensus is presented on deficiencies in widely available MRS methodology and validated improvements that are currently in routine use at several clinical research institutions. In particular, the localization error for the PRESS localization sequence was found to be unacceptably high at 3 T, and use of the semi-adiabatic localization by adiabatic selective refocusing sequence is a recommended solution. Incorporation of simulated metabolite basis sets into analysis routines is recommended for reliably capturing the full spectral detail available from short TE acquisitions. In addition, the importance of achieving a highly homogenous static magnetic field (B0 ) in the acquisition region is emphasized, and the limitations of current methods and hardware are discussed. Most recommendations require only software improvements, greatly enhancing the capabilities of clinical MRS on existing hardware. Implementation of these recommendations should strengthen current clinical applications and advance progress toward developing and validating new MRS biomarkers for clinical use. Contains fulltext : 205502.pdf (Publisher’s version ) (Closed access)
CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaInfoscience - EPFL scientific publicationsOther literature typeData sources: Infoscience - EPFL scientific publicationsMagnetic Resonance in Medicine; Radboud Repository; METIS Research Information SystemArticle . 2019License: Wiley Online Library User Agreementadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/mrm.27742&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu272 citations 272 popularity Top 0.1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 5visibility views 5 download downloads 95 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of CaliforniaInfoscience - EPFL scientific publicationsOther literature typeData sources: Infoscience - EPFL scientific publicationsMagnetic Resonance in Medicine; Radboud Repository; METIS Research Information SystemArticle . 2019License: Wiley Online Library User Agreementadd 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 , Review , Other literature type 2017 Netherlands, Canada, United Kingdom, United Kingdom, GermanyBMJ WT | Wellcome Trust Sanger Ins...WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papersMargot R.F. Reijnders; Robert Janowski; Mohsan Alvi; Jay E. Self; Ton van Essen; Maaike Vreeburg; Rob P.W. Rouhl; Servi J. C. Stevens; Alexander P.A. Stegmann; Jolanda H. Schieving; Rolph Pfundt; Katinke Van Dijk; Eric Smeets; Connie T.R.M. Stumpel; Levinus A. Bok; Jan Maarten Cobben; Marc Engelen; Sahar Mansour; Margo Whiteford; Kate Chandler; Sofia Douzgou; Nicola S. Cooper; Ene-Choo Tan; Roger Foo; Angeline H. M. Lai; Julia Rankin; Andrew Green; Tuula Lönnqvist; Pirjo Isohanni; Shelley Williams; Ilene S. Ruhoy; Karen S. Carvalho; James J. Dowling; Dorit Lev; Katalin Sterbova; Petra Laššuthová; Jana Neupauerová; Jeff L. Waugh; Sotirios Keros; Jill Clayton-Smith; Sarah F. Smithson; Han G. Brunner; Ceciel Van Hoeckel; Mel Anderson; Virginia Clowes; Victoria Mok Siu; Paulo Selber; Richard J. Leventer; Christoffer Nellåker; Dierk Niessing; David Hunt; Diana Baralle;BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. RESULTS: We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. CONCLUSION: We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity. Contains fulltext : 190731.pdf (Publisher’s version ) (Open Access)
Europe PubMed Centra... arrow_drop_down Journal of Medical Genetics; METIS Research Information SystemOther literature type . Article . 2017 . 2018Publication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)Radboud Repository; Journal of Medical GeneticsArticle . 2018Oxford University Research ArchiveOther literature type . 2017License: CC BY NCData sources: Oxford University Research Archiveadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu63 citations 63 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!visibility 5visibility views 5 download downloads 113 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Journal of Medical Genetics; METIS Research Information SystemOther literature type . Article . 2017 . 2018Publication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)Radboud Repository; Journal of Medical GeneticsArticle . 2018Oxford University Research ArchiveOther literature type . 2017License: CC BY NCData sources: Oxford University Research Archiveadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1136/jmedgenet-2017-104946&type=result"></script>'); --> </script>
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