Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease.Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female).Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease.
Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype-phenotype correlation in patients with FMF in Aydin, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFV gene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydin in which the distribution of MEFV gene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.
The frequency and the distribution of HLA-B27 subtypes in spondylarthropathy (SpA) patients and controls were investigated in a sample Turkish population. B27 subtyping was performed by PCR-SSP method in two groups: 49 unrelated HLA-B27 positive Turkish patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group Criteria, and 55 HLA-B27 positive healthy controls. The frequency of HLA-B∗27 was 2.6% in the Turkish population, and B∗2705 was the predominant allele among patients with SpA. The difference was mainly between male patients and male controls The proportion of B∗2705 among B27-positive patients and controls was significantly different (P = 0.02). Our study supports other reports from different populations which showed that B∗2705 and B∗2702 were more frequent in Caucasian patients with SpA.
Topical administration of both everolimus and sunitinib reduced VEGFR-2 levels and inhibited CNV. In additon, everolimus reduced ERK 1/2 levels and seems to be more effective than sunitinib on CNV.
Background and aim: The possibility of a potential mutagenic or carcinogenic action of chronic exposure to low concentrations of inhalational anaesthetics has been previously studied, with conflicting results. The purpose of this study was to assess whether occupational exposure to waste anaesthetic gases increases genotoxic risk. We examined peripheral lymphocytes from anaesthetists for both sister chromatid exchange (SCE) and for cells with high-frequency SCEs (HFCs).Method: A group of 16 non-smoking anaesthetists with occupational exposure to anaesthetic gases and a sex-and age-matched group matched 16 non-smoking matched physicians without occupational exposure to anaesthetic gases were studied. The participants were also selected on the basis of similar responses to a questionnaire assessing risk of genotoxicity relating to other aspects of life.Result: SCEs, and HFC percentages obtained from the exposed anaesthetists (6.6±2.4 and 12.2±15.9) were greater but not statistically significantly so than in the reference group (5.2±1.6 and 5.9±10.0).Conclusion: This study does not support the existence of an association between occupational exposure to waste anaesthetic gases and an increase in SCEs in lymphocytes. The nature of our anaesthesia practice suggests exposure was likely to be low. It should be noted that some anaesthetic gases produce lesions that can be efficiently repaired in mitogen-stimulated lymphocytes in vitro but not in circulating lymphocytes.
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