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Nürnberg, Germany

Rose C.D.,DuPont Company | Pans S.,Catholic University of Leuven | Casteels I.,Catholic University of Leuven | Anton J.,University of Barcelona | And 21 more authors.
Rheumatology (United Kingdom) | Year: 2015

Objective. To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). Methods. Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeutic and radiological data in BS patients. Results. Baseline data on the first 31 recruited patients (12 females and 19 males) from 18 centres in 11 countries are presented. Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. Median disease duration was 12.8 years (1.1-57). Arthritis, documented in all but one patient, was oligoarticular in 7, polyarticular in 23. The median active joint count was 21. Functional capacity was normal in 41%, mildly impaired in 31% and moderate-severe in 28% of patients. The most frequently involved joints at presentation were wrists, ankles, knees and PIPs. On radiographs, a symmetrical non-erosive arthropathy was shown. Previously unknown dysplastic bony changes were found in two-thirds of patients. Ocular disease was documented in 25 of 31 patients, with vitreous inflammation in 64% and moderate-severe visual loss in 33%. Expanded manifestations (visceral, vascular) beyond the classic clinical triad were seen in 52%. Conclusion. BS is associated with severe ocular and articular morbidity. Visceral involvement is common and may be life-threatening. Bone dysplastic changes may show diagnostic value and suggest a previously unknown role of NOD2 in bone morphogenesis. BS is resistant to current drugs, suggesting the need for novel targeted therapies. © The Author 2014. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.

Rech J.,Friedrich - Alexander - University, Erlangen - Nuremberg | Manger B.,Friedrich - Alexander - University, Erlangen - Nuremberg | Lang B.,Rheumatology Practice | Schett G.,Friedrich - Alexander - University, Erlangen - Nuremberg | And 2 more authors.
Rheumatology International | Year: 2012

Still's disease and chronic recurrent multifocal osteomyelitis (CRMO) are febrile rheumatic diseases of unknown etiology, which predominantly affect children but can also have their initial manifestation in adults. Both can present as intermittent, relapsing episodes and are considered potential candidates within the expanding spectrum of autoinflammatory disorders, although no genetic abnormalities have been described for either of them. Here, we describe a man with an initial manifestation of abacterial multifocal osteitis at the age of 41. During a relapsing- remitting course of his illness, he increasingly developed symptoms of adult-onset Still's disease (AOSD), and the diagnosis was established according to the Yamaguchi criteria. When treated with anakinra, not only the acute symptoms disappeared promptly, but also the osteitis went into complete remission. This is to our knowledge the first description of a simultaneous occurrence of these two manifestations of autoinflammation in adulthood. © Springer-Verlag 2011.

Hauser W.,Klinikum Saarbrucken GGmbH | Hauser W.,TU Munich | Biewer W.,Rheumatology Practice | Gesmann M.,Psychosomatic Medicine Practice | And 5 more authors.
European Journal of Pain | Year: 2011

Background: The "funnel hypothesis" of fibromyalgia syndrome (FMS) assumes that the high levels of somatic and psychological symptoms reported by FMS-patients are due to a selection bias of patients seeking for medical specialist care. We tested the hypothesis by comparing FMS-patients from a general population sample and different clinical settings. Methods: From a cross-sectional survey of a representative sample of the German general population, persons meeting FMS-criteria were selected. Consecutive in- and outpatients from German rheumatology, pain medicine, psychosomatic medicine and integrative medicine settings with established or initial diagnosis of FMS were recruited. FMS was diagnosed in all samples by the survey criteria of the regional pain scale. Somatic symptom intensity was measured by 13 items of the Patient Health Questionnaire PHQ 15, depressed mood by the 9-items PHQ 9. Results: 96 persons of the general population, 86 of the rheumatology, 80 of the pain medicine, 69 of the psychosomatic medicine and 58 of the integrative medicine setting were included into the comparison. Patients of the clinical settings reported more pain sites and more somatic and depressive symptoms than FMS-persons of the general population. Patients of the different clinical settings did not differ in the number of pain sites and the intensity of depressive and somatic symptoms. Conclusions: We found a "funnel" between FMS-persons of the general population and FMS-patients of clinical settings, but not between patients of different levels of care. Patients contacting the health care system did not differ in clinical features. © 2011 Elsevier Inc. All rights reserved.

Furnrohr B.G.,Friedrich - Alexander - University, Erlangen - Nuremberg | Wach S.,Friedrich - Alexander - University, Erlangen - Nuremberg | Kelly J.A.,Oklahoma Medical Research Foundation | Haslbeck M.,TU Munich | And 15 more authors.
Annals of the Rheumatic Diseases | Year: 2010

Background: Heat shock proteins (Hsps) play a role in the delivery and presentation of antigenic peptides and are thought to be involved in the pathogenesis of multifactorial diseases. Objective: To investigate genes encoding cytosolic Hsp70 proteins for associations of allelic variants with systemic lupus erythematosus (SLE). Methods: Case-control studies of two independent Caucasian SLE cohorts were performed. In a haplotype-tagging single-nucleotide polymorphism approach, common variants of HspA1L, HspA1A and HspA1B were genotyped and principal component analyses were performed for the cohort from the Oklahoma Medical Research Foundation (OMRF). Relative quantification of mRNA was carried out for each Hsp70 gene in healthy controls. Conditional regression analysis was performed to determine if allelic variants in Hsp70 act independently of HLA-DR3. Results: On analysis of common genetic variants of HspA1L, HspA1A and HspA1B, a haplotype significantly associated with SLE in the Erlangen-SLE cohort was identified, which was confirmed in the OMRF cohort. Depending on the cohorts, OR ranging from 1.43 to 1.88 and 2.64 to 3.16 was observed for individuals heterozygous and homozygous for the associated haplotype, respectively. Patients carrying the risk haplotype or the risk allele more often displayed autoantibodies to Ro and La in both cohorts. In healthy controls bearing this haplotype, the amount of HspA1A mRNA was significantly increased, whereas total Hsp70 protein concentration was not altered. Conclusions: Allelic variants of the Hsp70 genes are significantly associated with SLE in Caucasians, independently of HLA-DR3, and correlate with the presence of autoantibodies to Ro and La. Hence, the Hsp70 gene locus appears to be involved in SLE pathogenesis.

Baraliakos X.,Ruhr University Bochum | Listing J.,German Rheumatism Research Center | Fritz C.,German Rheumatism Research Center | Haibel H.,Franklin University | And 9 more authors.
Rheumatology | Year: 2011

Objectives: To report for the first time on the efficacy and safety of anti-TNF therapy after 8 years of follow-up in patients with active AS, and analyse possible short-term predictors for long-term clinical outcomes. Methods: In this open-label extension of a randomized controlled trial, proportions of the initially included 69 patients with active AS were treated with infliximab 5 mg/kg i.v./6 weeks for 8 years. The last report was published after 5 years. All analyses were based on completers. Results: Overall, 33 (48%) patients completed 8 years. Their mean (S.D.) BASDAI [2.6 (1.9)], BASFI [3.3 (2.6)] and BASMI [2.7 (2.4)] remained low at Year 8. At the end of Year 8, most patients were either in partial remission (n = 8, 24%) or had low disease activity (BASDAI<3; n=21, 64%). No new serious adverse events occurred within the past 3 years. Adverse events were the most frequent reason for dropout (56%). There were no differences between completers and dropouts at baseline, but the latter had higher BASFI values at dropout. No baseline parameter was associated with good long-term response to infliximab, but lower BASDAI levels after 12 weeks were predictive of a higher probability of partial remission [odds ratio (OR) 2.9, 95% CI 1.3, 6.3, P = 0.007], low disease activity (OR 1.7, 95% CI 1.2, 2.3, P = 0.005) or remaining on treatment (OR 0.79, 95% CI 0.61, 1.01, P = 0.06) after 8 years. Conclusion: Almost half of the initially treated patients remained on anti-TNF therapy for 8 years, and almost 90% were in partial remission or had low disease activity. Short-term response (low BASDAI at 3 months) is predictive of outcome after 8 years. Infliximab therapy was safe over 8 years. © The Author 2011. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.

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