Turk J Med Sci
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Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present clinical correlations of VUS in a large cohort of adult FMF patients from three tertiary centers located in Central Anatolia. ⋯ Our findings suggest that patients with single heterozygous VUS has mild FMF phenotype similar to those with single pathogenic mutation. Pathogenic/VUS complex heterozygosity does not lead to a more severe clinical phenotype than having a single pathogenic variant.
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Tuberculosis is a public health problem that still remains significant. For prevention, diagnosis, and treatment of tuberculosis more effective novel biomarkers are needed. MicroRNAs can regulate innate and adaptive immune responses, alter host-pathogen interactions, and affect progression of diseases. The relationship between microRNA expression and active pulmonary tuberculosis (APT) has not yet been investigated in the Turkish population. We aimed to test the potential diagnostic value of some microRNAs whose levels were previously reported to be altered in APT patients. ⋯ These findings suggest that miR-144 can have potential as a biomarker for APT. Using a single reference may be misleading in evaluation of microRNA expression. U6 and miR-93 can be used in combination as references for normalization of serum microRNA expression data.
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Familial Mediterranean fever (FMF) is a systemic autoinflammatory disease that causes recurrent attacks of fever, polyserositis, arthritis or skin eruptions, resulting in pain in the abdomen, muscles, joints and chest. All of these might lead to a reduction in exercise capacity, muscle strength, physical activity level (PAL) and quality of life (QoL). Therefore, assesment of these parameters are important. The aim of this study was to assess exercise capacity, muscle strength, PAL, and QoL in patients with FMF as compared to controls. ⋯ Subjects with FMF demonstrated lower exercise capacity, muscle strength, PAL and QoL than healthy peers. Therefore, it is important to evaluate and improve these parameters in patients with FMF.
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Established reference values are critical for the interpretation of immunologic assessments. In particular, the proportion and absolute counts of T- and B- cell subpopulations are subject to change with age and ethnicity. We aimed to establish age- specific reference values for lymphocyte subsets using updated immunophenotyping panels. ⋯ We provide updated extensive reference intervals for lymphocyte subpopulations in Turkish people.
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The aim of this study was to assess the nutritional status and risk factors for malnutrition in Behçet’s disease (BD) and neuro-Behçet’s disease (NBD) patients. ⋯ Malnutrition was higher in patients with NBD. Higher disability level and progressive disease course may be risk factors for malnutrition in NBD. Malnutrition may be seen more frequently in earlier phases of neurological involvement.