miRNA-binding site polymorphism in IL-15RA gene in rheumatoid arthritis and systemic lupus erythematosus: correlation with disease risk and clinical characteristics

Clinical Rheumatology - MiRSNPs may interfere with mRNA stability through effects on microRNAs (miRNAs)-mRNA interactions via direct changes in miRNA binding site or effect on the secondary...     

Paraneoplastic rheumatic syndromes: report of eight cases and review of literature

Malignant neoplasms are associated with a wide variety of paraneoplastic rheumatological syndromes. The paraneoplastic nature should be based on specific criteria. We report a series of eight cases of paraneoplastic rheumatic syndromes revealing an underlying neoplasia. Our series consists of six men and two women, with a mean age of 46.1 (20-69?years). The first case is a hypertrophic osteoarthropathy of Pierre Marie that occurred in a 20-year-old man 1?month after treatment for his nasopharyngeal carcinoma; the paraclinical examinations showed lung and bone metastasis. The second case is that of a bilateral shoulder-hand syndrome revealing an invasive squamous cell carcinoma of the cervix in a 63-year-old woman. The third case involved a 69-year-old patient who had surgery 2?years ago for prostate adenocarcinoma and presented with polymyalgia rheumatica revealing bone metastasis. We also report two cases of leukemia in adults revealed by polyarthritis. The sixth observation is that of a paraneoplastic scleroderma that occurred concomitantly with prostate cancer. The seventh case of an acute arthritis showed a B lymphoma. The eighth case is that of a 52-year-old patient who presented with inflammatory arthralgias, and digital clubbing revealing a squamous cell carcinoma of the skin. Paraneoplastic rheumatism remains a rare event, but knowledge of it is essential for early diagnosis of underlying cancer.     

Left and right ventricular function and volume assessment in young thalassemia major patients with no related myocardial iron overload

Thalassemia major (TM) patients have altered ventricular volumes and ejection fraction compared to normals, although evidence for these findings stem from restricted patient groups and has never been reproduced. We sought to evaluate cardiac parameters by cardiovascular magnetic resonance (CMR) in a group of young TM patients not covered by previous studies that are more representative of the TM population in many countries. Seventy patients including 40 TM with normal myocardial iron concentrations, and 30 age- and gender-matched normal (NL) volunteers underwent a CMR study for assessment of left and right ventricle volumes and function using a 1.5-T scanner. Left and right ventricle ejection fraction, indexed systolic and diastolic volumes, and indexed mass were compared between the two groups. Mean age of TM patients was 18.2?±?7.1 versus 17.5?±?8.5?years in NL with no significant differences (P?=?0.73). There was no difference in left ventricular (LV) ejection fraction between the groups (TM 64.9?±?5.7?%, NL 64.9?±?5.2?%; P?=?0.97). LV normalized end-diastolic and end-systolic volumes were significantly higher in patients with TM compared to NL volunteers (76.8?±?19.4 versus 66.6?±?11.7?mL/m², P?=?0.008, and 27.0?±?8.8 versus 23.6?±?5.0?mL/m², P?=?0.045). LV indexed mass was also higher in TM patients compared to NL (51.2?±?11.9 versus 42.0?±?8.5?g/m², P?<?0.001). No significant differences were observed in right ventricular parameters. In conclusion, younger patients with TM do not present different left or right ventricular function values compared to normal controls despite having increased left ventricular volumes and mass.     

Comparison of the BASDAI and the miniBASDAI in assessing disease activity in patients with ankylosing spondylitis

The BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) is the most widely used instrument for the assessment of disease activity in ankylosing spondylitis (AS). Objective. The aims to investigate whether the alternative BASDAI, here termed as the miniBASDAI [(Question (Q) 1 fatigue + Q2 spinal pain) + mean of (Q5 strength morning stiffness + Q6 duration morning stiffness)] / 3], measures disease activity more accurately in the subgroup of AS patients without peripheral manifestations. One hundred and ten patients were included in this cross-sectional study according to the modified New York criteria for AS. Clinical and biological parameters were evaluated. The disease activity was evaluated by the BASDAI. We calculated the miniBASDAI by omitting both the peripheral joints and the enthesitis questions: questions 3 and 4. Patients were dichotomized into a “P+” group if peripheral manifestations were present (at least arthritis or enthesitis) and a “P−” group, the subgroup without peripheral involvement (with either arthritis or enthesitis). Correlation of the BASDAI and miniBASDAI with other disease parameters were examined with the Spearman's rank correlation analysis. One hundred and ten patients were recruited. The percentage of patients with pure axial disease manifestation without peripheral involvement “P − group” was 42.7%. We found a similarly good correlation of the miniBASDAI with patient global, physician on disease activity, BASFI, ESR and CRP if compared to the correlation of the original BASDAI with these disease parameters, also in the group without peripheral involvement. Our study suggests that the BASDAI remains valid in assessing disease activity in AS patients with and without peripheral manifestations.     

Uncovering the genomic heterogeneity of multifocal breast cancer

Multifocal breast cancer (MFBC), defined as multiple synchronous unilateral lesions of invasive breast cancer, is relatively frequent and has been associated with more aggressive features than unifocal cancer. Here, we aimed to investigate the genomic heterogeneity between MFBC lesions sharing similar histopathological parameters. Characterization of different lesions from 36 patients with ductal MFBC involved the identification of non‐silent coding mutations in 360 protein‐coding genes (171 tumour and 36 matched normal samples). We selected only patients with lesions presenting the same grade, ER, and HER2 status. Mutations were classified as ‘oncogenic’ in the case of recurrent substitutions reported in COSMIC or truncating mutations affecting tumour suppressor genes. All mutations identified in a given patient were further interrogated in all samples from that patient through deep resequencing using an orthogonal platform. Whole‐genome rearrangement screen was further conducted in 8/36 patients. Twenty‐four patients (67%) had substitutions/indels shared by all their lesions, of which 11 carried the same mutations in all lesions, and 13 had lesions with both common and private mutations. Three‐quarters of those 24 patients shared oncogenic variants. The remaining 12 patients (33%) did not share any substitution/indels, with inter‐lesion heterogeneity observed for oncogenic mutation(s) in genes such as PIK3CA, TP53, GATA3, and PTEN. Genomically heterogeneous lesions tended to be further apart in the mammary gland than homogeneous lesions. Genome‐wide analyses of a limited number of patients identified a common somatic background in all studied MFBCs, including those with no mutation in common between the lesions. To conclude, as the number of molecular targeted therapies increases and trials driven by genomic screening are ongoing, our findings highlight the presence of genomic inter‐lesion heterogeneity in one‐third, despite similar pathological features. This implies that deeper molecular characterization of all MFBC lesions is warranted for the adequate management of those cancers. © 2015 The Authors. Pathological Society of Great Britain and Ireland.     

Aerobic and anaerobic exercise training in obese adults

[Purpose] Obesity is a global health problem and is associated with a multitude of complications. This study was designed to determine changes in cardiopulmonary functions after aerobic and anaerobic exercise training in obese subjects. [Subjects and Methods] Forty obese subjects, whose ages ranged between 18 and 25 years, were divided into 2 equal groups: group A received aerobic exercise training in addition to dietary measures, and group B received anaerobic exercise training for 3 months in addition to dietary measures. Measurements of systolic blood pressure, diastolic blood pressure, heart rate, maximum voluntary ventilation, maximal oxygen consumption, and body mass index were obtained for both groups before and after the exercise program. [Results] The mean body mass index, systolic blood pressure, diastolic blood pressure, heart rate, and maximal oxygen consumption decreased significantly, whereas the mean maximum voluntary ventilation increased significantly after treatment in group A. The mean maximum voluntary ventilation also increased significantly after treatment in group B. There were significant differences between the mean levels of the investigated parameters in groups A and B after treatment. [Conclusion] Aerobic exercise reduces weight and improves cardiopulmonary fitness in obese subjects better than anaerobic exercise.Key words: Obesity, Aerobic, Anaerobic