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001-es BibID:	BIBFORM073206
Első szerző:	Bottai, Matteo
Cím:	EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups : a methodology report / Matteo Bottai, Anna Tjärnlund, Giola Santoni, Victoria P. Werth, Clarissa Pilkington, Marianne de Visser, Lars Alfredsson, Anthony A. Amato, Richard J. Barohn, Matthew H. Liang, Jasvinder A. Singh, Rohit Aggarwal, Snjolaug Arnardottir, Hector Chinoy, Robert G. Cooper, Katalin Danko, Mazen M. Dimachkie, Brian M. Feldman, Ignacio García-De La Torre, Patrick Gordon, Taichi Hayashi, James D. Katz, Hitoshi Kohsaka, Peter A. Lachenbruch, Bianca A. Lang, Yuhui Li, Chester V. Oddis, Marzena Olesinka, Ann M. Reed, Lidia Rutkowska-Sak, Helga Sanner, Albert Selva-O'Callaghan, Yeong Wook Song, Jiri Vencovsky, Steven R. Ytterberg, Frederick W. Miller, Lisa G. Rider, Ingrid E. Lundberg, International Myositis Classification Criteria Project consortium, Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Dátum:	2017
ISSN:	2056-5933
Megjegyzések:	OBJECTIVE:To describe the methodology used to develop new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIMs) and their major subgroups.METHODS:An international, multidisciplinary group of myositis experts produced a set of 93 potentially relevant variables to be tested for inclusion in the criteria. Rheumatology, dermatology, neurology and paediatric clinics worldwide collected data on 976 IIM cases (74% adults, 26% children) and 624 non-IIM comparator cases with mimicking conditions (82% adults, 18% children). The participating clinicians classified each case as IIM or non-IIM. Generally, the classification of any given patient was based on few variables, leaving remaining variables unmeasured. We investigated the strength of the association between all variables and between these and the disease status as determined by the physician. We considered three approaches: (1) a probability-score approach, (2) a sum-of-items approach criteria and (3) a classification-tree approach.RESULTS:The approaches yielded several candidate models that were scrutinised with respect to statistical performance and clinical relevance. The probability-score approach showed superior statistical performance and clinical practicability and was therefore preferred over the others. We developed a classification tree for subclassification of patients with IIM. A calculator for electronic devices, such as computers and smartphones, facilitates the use of the European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria.CONCLUSIONS:The new EULAR/ACR classification criteria provide a patient's probability of having IIM for use in clinical and research settings. The probability is based on a score obtained by summing the weights associated with a set of criteria items
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban autoimmune diseases dermatomyositis polymyositis
Megjelenés:	RMD Open. - 3 : 2 (2017), p. 1-10. -
További szerzők:	Tjärnlund, Anna Santoni, Giola Werth, Victoria P. Pilkington, Clarissa Visser, Marianne de Alfredsson, Lars Amato, Anthony A. Barohn, Richard J. Liang, Matthew H. Singh, Jasvinder A. Aggarwal, Rohit Arnardottir, Snjolaug Chinoy, Hector Cooper, Robert G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Dimachkie, Mazen M. Feldman, Brian M. Torre, Ignacio García-De la Gordon, Patrick Hayashi, Taichi Katz, James D. Kohsaka, Hitoshi Lachenbruch, Peter A. Lang, Bianca A. Li, Yuhui Oddis, Chester V. Olesinka, Marzena Reed, Ann M. Rutkowska-Sak, Lidia Sanner, Helga Selva-O'Callaghan, Albert Song, Yeong Wook Vencovsky, Jiri Ytterberg, Steven R. Miller, Frederick W. Rider, Lisa G. Lundberg, Ingrid International Myositis Classification Criteria Project consortium Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository
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001-es BibID:	BIBFORM134822
035-os BibID:	(scopus)105014476813 (wos)001559455600001
Első szerző:	Che, Weng Ian
Cím:	Shared genetic susceptibility between idiopathic inflammatory myopathies and common B cell lymphoma subtypes found primarily in the human leucocyte antigen region / Che Weng Ian, Öberg Sysojev Anton, Zhu Catherine, Patasova Karina, International Lymphoma Epidemiology Consortium (InterLymph), IMACS Myositis Genetics Scientific Interest Group (MYOGEN), Smedby Karin E., Lundberg Ingrid E., Westerlind Helga, Holmqvist Marie
Dátum:	2025
ISSN:	2056-5933
Megjegyzések:	Objectives: To estimate shared genetic susceptibility between major subtypes of idiopathic inflammatory myopathies (IIM) and B cell lymphomas. Methods: We paired summary statistics from genome-wide association studies (GWASs) of diffuse large B cell lymphoma, follicular lymphoma (FL), chronic lymphocytic leukaemia (CLL) and marginal zone lymphoma with those of dermatomyositis (DM) and polymyositis (PM) from a GWAS and an ImmunoChip study. We estimated local genetic correlation (rg) for each disease pair using local analysis of (co)variant association (Bonferroni-corrected p value<0.05) and identified genetic variants jointly associated with both diseases using pleiotropy-informed false discovery rate (conjunctional false discovery rate <0.05). Functional mapping and annotation analyses were also performed. Results: We identified significant rg (ranging from -0.50 to 0.84) across 16 loci, with half located in the human leucocyte antigen (HLA) region, for the disease pairs of IIM and B cell lymphoma subtypes. Furthermore, jointly associated single-nucleotide polymorphisms were predominantly found in the HLA region. Specifically, all disease pairs showed shared genetic susceptibility in the HLA class I regions, while additional correlations in class III and class II regions were specific to DM and PM disease pairs, respectively. For some non-HLA loci with significant rg, functional analyses revealed immune-related responses potentially overlapping between DM and FL, DM and CLL, and PM and CLL. Conclusion: We revealed that DM and PM share genetic susceptibility with common B cell lymphoma subtypes in both immune-related loci and loci with unclear biological functions. These novel findings improve our understanding of the pathological link between IIM and B cell lymphomas.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Dermatomyositis Epidemiology Hematology Polymorphism, Genetic Polymyositis.
Megjelenés:	RMD Open. - 11 : 3 (2025), p. 1-12. -
További szerzők:	Öberg Sysojev, Anton Zhu, Catherine Patasova, Karina Smedby, Karin E. Lundberg, Ingrid Westerlind, Helga Holmqvist, Marie Griger Zoltán (1979-) (belgyógyász, allergológus és klinikai immunológus, reumatológus) International Lymphoma Epidemiology Consortium (InterLymph) IMACS Myositis Genetics Scientific Interest Group (MYOGEN)
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