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Familial Mediterranean Fever (FMF) is an autosomal, recessively inherited disease, characterized by recurrent and short attacks of fever with serosal inflammation that are caused by mutations in MEFV gene that encodes pyrin protein. To date, more than 70 disease-associated mutations have been identified, almost all of them representing missense nucleotide changes. FMF is very common among patients with Mediterranean ancestry, although the exact prevalence is not yet known, Greeks are considered to be at ‘intermediate risk’. In the present study, we studied FMF patients in natives of Crete, a population sharing a common genetic and cultural background. The spectrum of MEFV gene mutations in 71 patients as well as 158 healthy controls was studied by performing a molecular analysis focused on the 12 most frequent FMF-associated mutations. We found that 59 of 71 (83.1%) FMF patients had at least one MEFV mutation, five patients were homozygotes and 54 heterozygotes for FMF-associated mutations. No mutations were detected in 12 patients (16.9%). As in high-risk populations, common MEFV mutations were found in Cretan FMF patients, with the M694V being the most penetrant. M694V and M694I mutations were associated with severe phenotypes, with many patients presenting with uncommon clinical manifestations such as erysipelas-like erythema or renal disturbances. Of interest, 20 (37%) of our heterozygous FMF patients presented with a severe phenotype. Population genetics analysis showed an FMF carrier frequency in healthy Cretan population of approximately 6% (1:17) and places Cretans closer to the Western rather than Eastern populations of the Mediterranean basin. Finally, we constructed a three-dimensional model showing the interaction of the PRYSPRY domain of pyrin with caspase-1 onto which we mapped MEFV mutations, classified according to disease severity. In this model, the ‘flexible loops’ of caspase-1 appear to have no access to some positions that have been previously associated with mild disease, suggesting that alternative pathogenic pathways leading to FMF need to be explored. [ABSTRACT FROM AUTHOR]

The main purpose of this work was to investigate the fluctuation of Greek indoor electromagnetic field (EMF) intensity values and identify peaks that might occur. The scientific interest is mainly focused on the bands of extremely low-frequency (ELF) magnetic fields and radiofrequency (RF) electric fields which have been suggested to be possibly carcinogenic to humans by the Scientific Committee on Emerging and Newly Identified Health Risks (SCENIHR). Electromagnetic radiation (EMR) measurements were performed in a variety of indoor dwellings, in Attica and in the islands of Zakynthos and Lesvos. A total number of 4540 measurements were taken in a wide frequency range (50 Hz-2100 MHz) of which 3301 in Attica, 963 in Lesvos and 276 in Zakynthos. Statistical analysis of the data revealed specific statistically significant differences between the mean values of the electric (ELF and RF) but not the magnetic (ELF) field strengths measured at different distances from the EMF source, as well as between some of the mean values of the RF electric field at different bands. Some statistically significant differences between mean electric field values at different geographic locations were also identified. As far as the RF electric field is concerned, the maximum values, in most cases, were below 0.5 V/m, however increased values above 1 V/m and up to 5.6 V/m were occasionally observed. The ELF magnetic field values were lower than 1 μT. It may be concluded that overall, the observed indoor EMF intensity values remained well below domestic and European established limits., (Copyright © 2015 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.)

Radon and progeny ((218)Po, (214)Pb, (214)Bi and (214)Po) are radioactive indoor pollutants recognised for the human radiation burden that they induce. Bathing in thermal spas causes transient concentration peaks of radon and progeny and additional short-term impact in patients and personnel. This paper reports a semi-empirical non-linear first order model for describing radon and progeny variations in treatment rooms of the Ikaria spas. Non-measured physical parameters were estimated from in situ measurements in Ikaria through non-linear numerical solving. Exposure and dose variations were additionally modelled. Attachment rate constants were found to be between 0.44 and 55 h(-1). Deposition rate constants were between 0.28 and 7.3 h(-1) for attached nuclei and 0.42 and 64 h(-1) for unattached nuclei. Unattached progeny peaks were right-shifted compared to those of radon. Modelled effective doses ranged between 0.001 mSv per year and 0.589 mSv per year for patients and between 0.001 mSv per year and 18.9 mSv per year for workers. Apollon spas presented quite high doses. These were the highest reported in Greece and are significant worldwide.

This paper addresses the issues of self-organised critical behaviour of soil-radon and MHz-electromagnetic disorders during intense seismic activity in SW Greece. A significant radon signal is re-analysed for environmental influences with Fast Fourier Transform and multivariate statistics. Self-organisation of signals is investigated via fractal evolving techniques and detrended fluctuation analysis. New lengthy radon data are presented and analysed accordingly. The data did not show self-similarities. Similar analysis applied to new important concurrent MHz-electromagnetic signals revealed analogous behaviour to radon. The signals precursory value is discussed., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Radon and progeny ((218)Po, (214)Pb, (214)Bi and (214)Po) in thermal spas are well known radioactive pollutants identified for additional radiation burden of patients due to the activity concentration peaks which appear during bath treatment or due to drinking of waters of high radon content. This burden affects additionally the working personnel of the spas. The present paper has focused on the thermal spas of Loutraki (Attica-Greece). The aim was the investigation of the health impact for patients and working personnel due to radon and progeny. Attention has been paid to radon and progeny transient concentration peaks (for bath treatment) and to radon of thermal waters (both for bath treatment and drinking therapy). Designed experiments have been carried out, which included radon and progeny activity concentration measurements in thermal waters and ambient air. Additionally, published models for description of radon and progeny transient concentration peaks were employed. The models were based on physicochemical processes involved and employed non linear first order derivative mass balance differential equations which were solved numerically with the aid of specially developed computer codes. The collected measurements were analysed incorporating these models. Results were checked via non linear statistical tests. Predictions and measurements were found in close agreement. Non linear parameters were estimated. The models were employed for dosimetric estimations of patients and working personnel. The effective doses of patients receiving bath treatment were found low but not negligible. The corresponding doses to patients receiving potable treatment were found high but below the proposed international limits. It was found that the working personnel are exposed to considerable effective doses, however well below the acceptable limits for workers. It was concluded that treatment and working in the Loutraki spas leads to intense variations of radon and progeny and consequently additional health impact both to patients and working personnel.

Introduction: Association studies of vitamin D receptor (VDR) polymorphisms and risk of type 1 diabetes (T1D) have produced inconsistent results in different populations, pointing to contribution of additional genetic variants and environmental factors. In this study we investigated the association between four VDR polymorphisms and susceptibility to T1D in Crete, an island with homogenous population and considerably low incidence of T1D., Results and Discussion: We genotyped 100 patients with T1D and 96 controls for the FokI (rs10735810), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) single nucleotide polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis. In all 4 polymorphisms tested, distribution of VDR genotype frequencies differed significantly between patients and controls. Individuals with T1D presented less commonly with FokI F allele (p=0.008; OR 0.52, 95% CI 0.32 to 0.85) and BsmI B allele (p=0.042; OR 0.65, 95% CI 0.44 to 0.97) and more commonly with ApaI A allele (p=0.024; OR 1.61, 95% CI 1.07 to 2.41) and TaqI T allele (p=0.0001; OR 2.24, 95% CI 1.49 to 3.36)., Conclusion: Our findings derived from a homogenous southern European population with low incidence of T1D suggest that FokI, BsmI, ApaI, and TaqI polymorphisms of the VDR gene are associated with T1D prevalence.

Rheumatoid arthritis (RA) is a multifactorial disease that is increasing in incidence worldwide. It is associated with a complex mode of inheritance, with many genes being involved in the development and progression of the disease. Genome-wide association studies in different populations have recently revealed a significant association between a TRAF1/C5 and a STAT4 polymorphism and the development of RA. In the present study we performed a case-control study in the population of the island of Crete, Greece, aiming to replicate the former findings in a genetically homogeneous cohort of patients. We found that mutated allele A or genotypes A/A and G/A of the TRAF1/C5 rs10818488 SNP were more common in individuals with RA than in control individuals (odds ratio [OR]=1.7, 95% confidence interval [CI]=1.35-2.15, and OR=2.22, 95% CI=1.61-3.05, respectively). Similarly, mutated allele T or genotypes T/T and G/T of the STAT4 rs7574865 SNP were also associated with susceptibility to RA (OR=1.9, 95% CI=1.46-2.50, and OR=2.37, 95% CI 1.73-2.25, respectively). Thus, we conclude that mutant alleles or genotypes of both polymorphisms examined are associated with the development of RA in our population.

Current classifications of diabetes distinguish between type 1 diabetes (T1D) and type 2 diabetes (T2D), however recent evidence highlights overlap between T1D and T2D. Earlier studies have suggested altered nitric oxide (NO) metabolism in both T1D and T2D. In the present case-control study, we investigated whether the endothelial NO synthase gene intron 4 a/b polymorphism is associated with T1D and T2D in the island of Crete, a well-defined area with genetically homogeneous population. Mutated allele "a" was more common in individuals with both T1D and T2D than in controls (odds ratio [OR] = 1.71, 95% confidence interval [CI] = 1.06-2.77, p = 0.013; and OR = 1.50, 95% CI = 0.930-2.42, p = 0.047, respectively). Mutated genotype (a/a or a/b) was more common in individuals with T1D than in nondiabetic individuals (OR = 1.93, 95% CI = 1.12-3.32, p = 0.008); this increased frequency was also observed for T2D, although not at a significant level (OR = 1.38, 95% CI = 0.802-2.37). No difference was found in the frequency of mutated allele a or mutated genotype (a/a or a/b) between T1D and T2D populations. In conclusion, our results indicate that allele a of the intron 4 endothelial NO synthase gene is associated with susceptibility to both T1D and T2D and may represent a common genetic factor for diabetes.