Search results for "skin and connective tissue diseases"
showing 10 items of 838 documents
Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes†
2011
Autoimmune polyglandular syndrome (APS) type 2 is defined by the manifestation of at least two autoimmune endocrine diseases. Only few data exist on genetic associations of APS type 2. In this controlled study, 98 patients with APS type 2, 96 patients with type 1 diabetes (T1D), and 92 patients with autoimmune thyroid disease, both as a single autoimmune endocrinopathy, were tested for association with alleles of the human leukocyte antigen (HLA) class II loci DRB1, DQA1, and DQB1. Patients with APS type 2 had significantly more often the alleles DRB1*03 (P(c) < 0.0001), DRB1*04 (P(c) < 0.000005), DQA1*03 (P(c) < 0.0001), and DQB1*02 (P(c) < 0.05), when compared with controls. Less frequent…
Long term structural effects of combination therapy in patients with early rheumatoid arthritis: five year follow up of a prospective double blind co…
2003
Objective: To evaluate whether early combined therapy with methotrexate (MTX) and sulfasalazine (SSZ) during the first year in early rheumatoid arthritis (RA) induces long term beneficial effects, compared with monotherapy, when the further treatment strategy is a free choice. Methods: Study design: five year multicentre prospective longitudinal trial. Participants: 146/205 patients with RA previously included in a one year prospective randomised trial comparing the effects of treatment with MTX, SSZ, or a combination of both. Criteria for inclusion: patients with early RA (⩽1 year duration). Follow up: between the end of years 1 and 5, patients were followed up and treated by their own rhe…
Clinical outcomes and safety of rituximab treatment for patients with systemic lupus erythematosus (SLE) – results from a nationwide cohort in German…
2013
Objective The objective of this article is to evaluate the safety and clinical outcome of rituximab treatment in systemic lupus erythematosus (SLE) patients refractory to standard of care therapy in a real-life setting in Germany. Methods The GRAID registry included patients with different autoimmune diseases who were given off-label treatment with rituximab. Data on safety and clinical response were collected retrospectively. In SLE patients, clinical parameters included tender and swollen joint counts, fatigue, myalgia, general wellbeing, Raynaud’s and the SLEDAI index. Laboratory tests included dsDNA antibody titres, complement factors, hematologic parameters and proteinuria. Finally, th…
The effect of paired associative stimulation on fatigue resistance
2015
Paired associative stimulation (PAS) is a non-invasive stimulation method developed to induce bidirectional changes in the excitability of the cortical projections to the target muscles. However, very few studies have shown an association between changes in motor evoked potentials (MEP) after PAS and behavioral changes in healthy subjects. In the present study we hypothesized that the functional relevance of PAS can be seen during fatiguing exercise, since there is always a central contribution to the development of fatigue. Transcranial magnetic stimulation was applied over the motor cortex to measure changes in the MEPs of the soleus muscle before and after PAS. Furthermore, fatigue resis…
Vitiligo susceptibility and catalase gene (CAT) polymorphisms in sicilian population
2018
BACKGROUND Catalase gene (CAT) polymorphisms were analyzed as responsible for the deficiency of catalase enzyme activity and concomitant accumulation of excessive hydrogen peroxide in vitiligo patients. Catalase is a well-known oxidative stress regulator that could play an important role in the pathogenesis of vitiligo. This study was conducted to evaluate three CAT gene polymorphisms (-89A/T, 389C/T, 419C/T) and their association with vitiligo susceptibility in Sicilian population. METHODS Sixty out of 73 Sicilian patients with vitiligo were enrolled and submitted to CAT gene analysis. RESULTS Contrary to the Northern part of Europe but likewise to the Mediterranean area, the frequency of …
Transforming Growth Factor Beta 1 Serum Levels in Patients with Preinvasive and Invasive Lesions of the Breast
2004
Transforming growth factor beta (TGF-beta)1 is thought to be involved in breast carcinogenesis. TGF-beta1 acts in an antiproliferative manner in the early stages of breast carcinogenesis, but promotes tumor progression and metastases in the advanced stages of the disease. No data have been published on serum TGF-beta1 in breast cancer. We investigated TGF-beta1 serum levels in patients with breast cancer (n=135), ductal carcinoma in situ (DCIS) I to III (n=67) or fibroadenoma (n=35), and in healthy women (n=40) to determine its value as a differentiation marker between malignant, pre-invasive and benign diseases and as a predictive marker for metastatic spread. Median (range) TGF-beta1 seru…
BRCA1 promoter methylation in peripheral blood is associated with the risk of triple‐negative breast cancer
2019
Methylation of the promoter of the BRCA1 gene in DNA derived from peripheral blood cells is a possible risk factor for breast cancer. It is not clear if this association is restricted to certain types of breast cancer or is a general phenomenon. We evaluated BRCA1 methylation status in peripheral blood cells from 942 breast cancer patients and from 500 controls. We also assessed methylation status in 262 paraffin‐embedded breast cancer tissues. Methylation status was assessed using methylation‐sensitive high‐resolution melting and was categorized as positive or negative. BRCA1 methylation in peripheral blood cells was strongly associated with the risk of triple‐negative breast cancer (TNBC)…
Autoantibodies in breast cancer: their use as an aid to early diagnosis
2007
There is increasing evidence that the immune system produces a humoral response to cancer-derived antigens. This study assessed the diagnostic potential of autoantibodies to multiple known tumour-associated proteins.Sera from normal controls (n = 94), primary breast cancer patients (n = 97) and patients with ductal carcinoma in situ (DCIS) (n = 40) were investigated for the presence of autoantibodies to p53, c-myc, HER2, NY-ESO-1, BRCA1, BRCA2 and MUC1 antigens by enzyme-linked immunosorbent assay.Reproducibly elevated levels of autoantibodies were seen in at least one of the six antigens in 64% of primary breast cancer patient sera and 45% of patients with DCIS at a specificity of 85%. No …
Quality of life and adjuvant tamoxifen treatment in breast cancer patients
2009
About two-thirds of all breast cancer patients are treated with adjuvant hormonal therapy. Side effects of tamoxifen and their effects on physical, emotional and social functioning have been shown to impair the quality of life. Aim of this paper was to evaluate the side effects and level of influence on the physical, emotional and social functioning caused by tamoxifen treatment. For assessment of quality of life an own questionnaire was designed. Between January 2001 and December 2003, 136 women with breast cancer and adjuvant tamoxifen therapy were included in this study. Data of side effects, physical and mental health and patients' self-evaluation identified detrimental effects on patie…
BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia
2013
Abstract Purpose In this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility. Material/methods Analysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing. Results Out of 1068 breast and 231 ovarian cancer patients from different families: 58 carried the c.5266dupC and 43 carried the c.4035delA mutations. Every 4th patient in our study did not report cancer in the family. The breast cancer was diagnosed earlier in carriers of the c.5266dupC than in carriers of the c.4035delA ( p = 0.003). The inc…