No abstract

The Turkish version of ODI has good comprehensibility, internal consistency, and validity and is an adequate and useful instrument for the assessment of disability in patients with low back pain.

Objective. Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3-8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity has been questioned. Until now this has not been illustrated experimentally. This study was undertaken to test the hypothesis that disturbances in XCI mosaicism may be involved in the pathogenesis of the disease in female patients with SSc.Methods. Seventy female SSc patients and 160 female controls were analyzed for the androgen receptor locus by the Hpa II/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. Furthermore, skin biopsy samples were obtained from 5 patients whose blood revealed an extremely skewed pattern of XCI, and the analysis repeated. Since microchimerism in SSc was reported, Y chromosome sequences were investigated in all samples.Results. Skewed XCI was observed in DNA from peripheral blood cells in 35 of 55 informative patients (64%), as compared with 10 of 124 informative controls (8%) (P < 0.0001). Extreme skewing was present in 27 of the patient group (49%), as compared with only 3 of the controls (2.4%) (P < 0.0001). However, XCI was random in all skin biopsy samples. The potential contribution of microchimerism to the random XCI pattern is highly unlikely based on the medical histories of the patients.Conclusion. Skewed XCI mosaicism may play a significant role in the pathogenesis of SSc.

Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped ~200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10(-9); and rs189754752, OR = 2.47, p = 4.22 × 10(-9)). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)).

Although nerve conduction study (NCS) is the method most frequently used in daily clinical practice to confirm clinical diagnosis of Carpal tunnel syndrome (CTS), ultrasonographic (US) measurement of the median nerve cross-sectional area is both sensitive and specific for the diagnosis of CTS. Moreover, an algorithm evaluating CTS severity based on CSA of median nerve was suggested. This study is aimed to investigate the clinical usefulness of this algorithm in assessing CTS severity. The patients underwent a full clinical examination, including Tinel and Phalen test, and questioned about symptoms and the secondary causes of CTS. All of the patients refilled a Turkish version Levine Boston Carpal tunnel syndrome questionnaire (BQ) and the visual analog scale for pain (VAS 0-100 mm) A MyLab 70 US system (Esaote Biomedica, Genoa, Italy) equipped with a broadband 6-18 MHz linear transducer was used for US examination. The cross-sectional area of the median nerve was measured at the proximal inlet of the carpal tunnel (US cut-off points that discriminate between different grades of CTS severity as 10.0-13.0 mm(2) for mild symptoms, 13.0-15.0 mm(2) moderate symptoms and >15.0 mm(2) for severe patients). Nerve conduction studies were carried out, and severity of electrophysiological CTS impairment was reported as normal, mild, moderate, severe and extreme. The agreement between NCS and US in showing CTS severity (normal, mild, moderate and severe) was calculated with Cohen's kappa coefficient. Ninety-nine wrists of 54 patients (male/female: 4/50) were included in the study. Mean ages of patients were (+/-SD) 43.3 +/- 11 years. Forty-nine patients had idiopathic CTS, whereas five had secondary CTS (4 had diabetes mellitus and 1 had hypothyroidism). Symptoms were bilateral in 45 patients (83.3%). There were statistical differences between the groups according to electrophysiologic severity scale in terms of age (P < 0.001), body-mass index (P = 0.034), VAS (P = 0.014), Boston symptom severity (P = 0.013) and CSA of median nerve (P < 0.001). The identification of CTS severity showed substantial agreement (Cohen's kappa coefficient = 0.619) between the US and NCS. Also the four groups based on US CTS severity classification were significantly different in VAS (P = 0.017) and Boston symptom severity (P = 0.021). The median nerve swelling detected by calculation of the CSA reflects in itself the degree of nerve damage as expressed by the clinical picture. In addition to CTS diagnosis, sonographic measurement of CSA could also give additional information about severity of median nerve involvement. Using of US may cost-effectively reduce the number of NCS in patients with suspected CTS.