The Experts below are selected from a list of 132 Experts worldwide ranked by ideXlab platform
Xavier Corbella - One of the best experts on this subject based on the ideXlab platform.
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clinical phenotypes and prediction of chronicity in sarcoidosis using cluster analysis in a prospective cohort of 694 patients
European Journal of Internal Medicine, 2020Co-Authors: Manuel Rubiorivas, Xavier CorbellaAbstract:Abstract Background Sarcoidosis is a heterogeneous disease with high variability in natural history and clinical spectrum. The study aimed to reveal different clinical phenotypes of patients with similar characteristics and prognosis. Methods Cluster analysis including 26 phenotypic variables was performed in a large cohort of 694 sarcoidosis patients, collected and followed-up from 1976 to 2018 at Bellvitge University Hospital, Barcelona, Spain. Results Six homogeneous groups were identified after cluster analysis: C1 (n=47; 6.8%), C2 (n=85; 12.2%), C3 (n=153; 22%), C4 (n=29; 4.2%), C5 (n=168; 24.2%), and C6 (n=212; 30.5%). Presence of bilateral hilar lymphadenopathy (BHL) ranged from 65.5% (C4) to 97.9% (C1). Patients with Lofgren Syndrome (LS) were distributed across 3 phenotypes (C1, C2, and C3). In contrast, phenotypes with pulmonary (PS) and/or extrapulmonary sarcoidosis (EPS) were represented by groups C4 (PS 100% with no EPS), C5 (PS 88.7% plus EPS), and C6 (EPS). EPS was concentrated in groups C5 (skin lesions, peripheral and abdominal lymph nodes, and hepatosplenic involvement) and C6 (skin lesions, peripheral lymph nodes, and neurological and ocular involvement). Unlike patients from LS groups, most patients with PS and/or EPS were treated with immunosuppressive therapy, and evolved to chronicity in higher proportion. Finally, the cluster model worked moderately well as a predictive model of chronicity (AUC=0.705). Conclusion Cluster analysis identified 6 different clinical patterns with similar phenotypic variables and predicted chronicity in our large cohort of patients with sarcoidosis. Classification of sarcoidosis into phenotypes with prognostic value may help physicians to improve the efficacy of clinical decisions.
Luís Delgado - One of the best experts on this subject based on the ideXlab platform.
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BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis.
Respiratory medicine, 2012Co-Authors: António Morais, Bruno A. Lima, Maria José Peixoto, Helena Alves, Agostinho Marques, Luís DelgadoAbstract:Summary A functional polymorphism within butyrophilin-like 2 ( BTNL2 ) gene has been described as a potential risk factor for sarcoidosis. The association between chronicity and the rs2076530 SNP A allele has also been reported. This study evaluates the BTNL2 rs2076530 G/A allele associations with sarcoidosis susceptibility and disease evolution in a Portuguese cohort of patients. A case-control study of 151 patients and 150 controls was performed. Allele frequencies were compared with Chi-square test in a univariate analysis and with logistic regression in a multivariate analysis. BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA- DRB1 alleles, except in the subgroup of patients with Lofgren Syndrome where the determinant allele was HLA- DRB1*03 . The A allele was also increased in those with isolated thoracic disease, with no differences regarding radiological stages or disease evolution. HLA- DRB1*03 , besides the association with Lofgren Syndrome was significantly related with disease resolution. Our data confirms the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in a Portuguese population. We found independent genetic risk factors in clinically distinct disease phenotypes: BTNL2 rs2076530 A allele in patients without Lofgren Syndrome or with isolated thoracic disease, and HLA- DRB1*03 in Lofgren Syndrome or disease resolution.
Mad Hélénie Elsensohn - One of the best experts on this subject based on the ideXlab platform.
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Comparative phenotype and BTNL2 polymorphism in familial and sporadic sarcoidosis in the French SARCFAM cohort
European Respiratory Journal, 2014Co-Authors: Yves Pacheco, Alain Calender, Dominique Israël-biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Dominique Valeyre, Claire Bardel, Mad Hélénie ElsensohnAbstract:Familial clustering and epidemiologic studies suggest a genetic susceptibility to sarcoidosis that may be associated with a difference in phenotype. The objective of the study was to compare the phenotype and the polymorphisms of the BTNL2 gene in familial and sporadic sarcoidosis. The cohort included 485 patients with histologically proved sarcoidosis (274 women, 211 men), with 267 sporadic cases (SC), and 218 familial cases (FC) from 142 families with at least two first-degree relatives with documented sarcoidosis. The clinical phenotype was studied retrospectively, and the polymorphisms of the BTNL2 gene were analysed. The sex ratio and ethnicity (77% Caucasian, 20% African/Caribbean and 3% from Asia) did not differ between FC and SC. The mean age at diagnosis was 38+1.9 yr in FC and 43+1.9 in SC (p=0.001). At the date of diagnosis the number of affected organs was significantly greater in FC than in SC (OR=1.29, p=0.01). The mean clinical severity score (range, 0-106) based on the number of affected organs and the clinical/biological manifestations was 17.2 at baseline, with no difference between FC and SC. Lofgren Syndrome was present in 57 patients. Radiological stages were I (41%), II (41%), III (12.33%) and IV (5.4%), respectively. A total of 333 patients were treated, with no difference between groups. The frequency of the rs 2076530 polymorphism in BTNL2 was similar in FC and SC. In conclusion, familial sarcoidosis differs from sporadic disease only by earlier onset and higher number of affected organs. SARCFAM is an interesting tool for a study on natural history and the identification of new genetic loci in this disease.
J.l. Dupond - One of the best experts on this subject based on the ideXlab platform.
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attention au Syndrome de Lofgren et a l alveolite a lymphocytes t cd4 a propos de 3 cas revelateurs d une tuberculose
Revue de Médecine Interne, 1992Co-Authors: B. De Wazières, J.c. Dalphin, Th. Fest, F. Closs, D.a. Vuitton, J.l. DupondAbstract:We report three cases of tuberculosis with mediastinal lymphadenopathies. Unusual presentation with Lofgren Syndrome suggest sarcoidosis. The diagnostic is performed by mediastinoscopy.
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Attention au Syndrome de Löfgren et à l'alvéolite à lymphocytes T CD4 +: à propos de 3 cas révélateurs d'une tuberculose
La Revue de Médecine Interne, 1992Co-Authors: B. De Wazières, J.c. Dalphin, Th. Fest, F. Closs, D.a. Vuitton, J.l. DupondAbstract:We report three cases of tuberculosis with mediastinal lymphadenopathies. Unusual presentation with Lofgren Syndrome suggest sarcoidosis. The diagnostic is performed by mediastinoscopy.
Martin Petřek - One of the best experts on this subject based on the ideXlab platform.
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tumour necrosis factor alpha and lymphotoxin alpha genepolymorphisms in czech patients with sarcoidosis associationwith Lofgren Syndrome
Immunology, 2003Co-Authors: Frantisek Mrazek, Lydie Izakovicova Holla, Beata Hutyrova, Vitězslav Kolek, Jiři Vacha, K I Welsh, R M Du Bois, Martin PetřekAbstract:To reveal possible association of nearby pro-inflammatory genes located within the MHC class III region with susceptibility to sarcoidosis or clinical course of the disease, two common polymorphisms of tumour necrosis factor (TNF) alpha and lymphotoxin (LT) alpha genes were investigated.
