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More about the Viking hypothesis of origin of the delta32 mutation in the CCR5 gene conferring resistance to HIV-1 infection.

The chemokine receptor CCR5 constitutes the major coreceptor for the HIV-1, because a mutant allele of the CCR5 gene named delta32 was shown to provide to homozygotes a strong resistance against infection. In the present study the frequency of the delta32 allele was collected in 36 European populations and in Cyprus, and the highest allele frequencies were found in Nordic countries. We constructed an allele map of delta32 frequencies in Europe; the map is in accordance to the Vikings hypothesis of the origin of the mutation and his dissemination during the eighth to the tenth centuries.

Cyprus↗

Patient-validated content of a Greek version of the Quality of Life in Epilepsy Inventory (QOLIE-89) combined with individualized measures.

PURPOSE: The goal of this study was to determine the content validity of a Greek version of the Quality of Life in Epilepsy Inventory (QOLIE-89) and to investigate whether it can be developed in combination with individualized measures to assess the health-related needs of the individual patient with epilepsy in Cyprus. METHODS: The QOLIE-89 was translated into Greek and combined with individualized validation measures. The instrument was administered to 44 adult outpatients receiving medication for epilepsy. They were asked to evaluate the clarity and appropriateness of the QOLIE-89 content and the accuracy of their scores, and to report their quality-of-life-related concerns. Reported concerns were compared with the QOLIE-89 scores and content. RESULTS: The majority of participants (92.9%) endorsed the representativeness of the assessment. Quality-of-life (QoL) overall scores correlated significantly with satisfaction with QoL. Twenty-seven (30.3%) QOLIE-89 items were deemed unclear or difficult to answer and 13 items (14.6%) were deemed not relevant or inappropriate by > or =7.1% (N = 3) of patients. At least 7.1% of participants disagreed that their scores were representative of their self-perceived QoL, on 23 items (25.8%). Participants reported 33 QoL-related concerns, of which nearly a quarter were not addressed in the original QOLIE-89. Correlations of QOLIE-89 domains with content-related concerns ranged from phi = 0.43 to phi = 0.85 ( P < 0.01), lower correlations coinciding with the scale content that was criticized. CONCLUSIONS: Patients were able to use superimposed measures to evaluate the content of QOLIE-89 and identified areas that could be incorporated into an instrument for the determination of patients' individual QoL-related concerns.

Adolescent↗

Nicotine levels in indoor athletic centres.

The levels of nicotine during athletic events were measured at six indoor athletic centres in Cyprus. Samples of air were pumped through a tube containing XAD-4 resin. Quantitation of nicotine was carried out by GC with a method detection limit of 0.03 microgram of nicotine, recovery ranged between 99.5 and 100.5%. Confirmation of the nicotine presence was carried out by GC/MS. The concentrations of nicotine measured were between 3.6 and 39.0 micrograms/Nm3 with a geometric mean range 6.5-28.3 micrograms/Nm3.

Air Pollution, Indoor↗

Control of cystic echinococcosis/hydatidosis: 1863-2002.

Echinococcosis/hydatidosis, caused by Echinococcus granulosus, is a chronic and debilitating zoonotic larval cestode infection in humans, which is principally transmitted between dogs and domestic livestock, particularly sheep. Human hydatid disease occurs in almost all pastoral communities and rangeland areas of the underdeveloped and developed world. Control programmes against hydatidosis have been implemented in several endemic countries, states, provinces, districts or regions to reduce or eliminate cystic echinococcosis (CE) as a public health problem. This review assesses the impact of 13 of the hydatid control programmes implemented, since the first was introduced in Iceland in 1863. Five island-based control programmes (Iceland, New Zealand, Tasmania, Falklands and Cyprus) resulted, over various intervention periods (from <15 to >50 years), in successful control of transmission as evidenced by major reduction in incidence rates of human CE, and prevalence levels in sheep and dogs. By 2002, two countries, Iceland and New Zealand, and one island-state, Tasmania, had already declared that hydatid disease had been eliminated from their territories. Other hydatid programmes implemented in South America (Argentina, Chile, Uruguay), in Europe (mid-Wales, Sardinia) and in East Africa (northwest Kenya), showed varying degrees of success, but some were considered as having failed. Reasons for the eventual success of certain hydatid control programmes and the problems encountered in others are analysed and discussed, and recommendations for likely optimal approaches considered. The application of new control tools, including use of a hydatid vaccine, are also considered.

Animals↗

Authenticity of the traditional cypriot spirit "zivania" on the basis of metal content using a combination of coupled plasma spectroscopy and statistical analysis.

Sixty-eight alcoholic beverages ranging in alcoholic degree between 40 and 55 from different countries were analyzed for their 16 most abundant metal elements using inductively coupled plasma (ICP) spectroscopy. The results were analyzed statistically using two different types of analytical methods: canonical discriminant analysis and classification binary trees. The aim of this study was to investigate which of the metals analyzed constitute diagnostic parameters that establish authenticity of the traditional Cypriot spirit zivania. The two statistical methods revealed that Mg, Zn, and Cu are promising distinctive parameters capable of differentiating zivania from other spirits similar in alcoholic degree. It is believed that this differentiation in metals between the alcoholic beverages examined is related to the unique geological and climatic conditions existing on the island of Cyprus.

Alcoholic Beverages↗

Chemometric characterization of the cypriot spirit "zivania".

In 42 alcoholic beverages produced in Cyprus and other countries, 26 chemical and physical-chemical variables were determined by HPLC and GC chromatography, (1)H NMR and ICP spectroscopy, and other techniques. Data were processed using multivariate chemometric techniques, involving principal component analysis, cluster analysis, regularized discriminant analysis, and classification and regression trees. Zivania can be differentiated from beverages from other countries. Using 2- and 3-methyl-butanol, 2-methyl-propanol, furfural, methanol, and the alcoholic grade and the chemical shift of -CH(3) in (1)H NMR spectra as features, a nearly correct classification for zivania was achieved. The reasons for diversions are given.

Alcoholic Beverages↗

Authenticity of the traditional cypriot spirit "zivania" on the basis of 1h NMR spectroscopy diagnostic parameters and statistical analysis.

A previous publication (Kokkinofta et al. J. Agric. Food Chem. 2003, 51, 6233-6239) discussed the use of inductively coupled plasma spectroscopy to differentiate between the traditional Cypriot alcoholic beverage zivania and other spirits similar in alcoholic content collected from different countries. In the present paper (1)H NMR spectroscopy is applied to confirm the previous conclusions and to obtain additional physical-chemical characteristics that may be used to differentiate zivania from other similar beverages. NMR spectroscopy gave a satisfactory degree of prediction and classification between zivanias and other distillings. The validity of quantification of the method was tested using comparative GC data. It appears that chemical analysis can be very helpful for identifying the unique geological and climatic conditions existing in the island of Cyprus that lead to an authentic product.

Alcoholic Beverages↗

Reference growth curves for cypriot children 6 to 17 years of age.

OBJECTIVE: The purpose of the study was to present smoothed percentiles for body weight and height, waist circumference, and body mass index (BMI) in Cypriot children and to compare their BMI 85th and 95th percentiles with those of children in other countries. RESEARCH METHODS AND PROCEDURES: The study was a cross-sectional study, including a representative sample of 2472 healthy children (49.1% boys) in Cyprus ages 6 to 17 years, who were evaluated during the 1999-2000 school year. Body weight and height and waist circumference were measured using standard procedures. BMI was calculated as weight in kilograms per height in square meters. Smoothed, sex-specific percentiles for these variables were calculated using polynomial regression models. Crude weight, height, waist, and BMI percentile values are presented in sex-specific tables and smoothed percentile curves are presented in charts. The 85th and 95th percentiles for BMI were compared with measurements from other countries, because of the concern of the upper limits of BMI in respect to the evaluation of obesity. RESULTS: The 85th and 95th BMI percentile values are higher in Cypriot boys than in Swedish and Iranian boys through all ages and in girls ages 6 to 15 years, whereas after the age of 15 years, both Swedish and Iranian girls' percentiles are equalized with their Cypriot peers. DISCUSSION: Weight, height, waist circumference, and BMI values and charts are presented for the first time for Cypriot children and adolescents. Much concern should be addressed to the observation that for the majority of the Cypriot sample, the upper BMI limits are higher than the peers of developing and developed countries.

Adolescent↗

Short-term predictors of overweight in early adolescence.

OBJECTIVE: To identify short-term predictors of risk for overweight in early adolescence in a sample of Caucasian origin subjects, in Cyprus. SUBJECTS: A total of 357 subjects (178 males) with baseline age 11.5+/-0.4 y were re-evaluated after a mean of 1.6+/-0.5 y. MEASUREMENTS: Body weight and height, calculated body mass index (BMI), and blood pressure at baseline and follow-up. Serum lipids were determined at baseline. Obesity and overweight were defined at baseline and follow-up, according to the International Obesity Task Force data set. Socioeconomic class was determined. Self-reported parental weight and height were used to calculate the parental BMI. BMI tracking and changes in BMI categories were calculated (with 95% confidence interval (CI)). The future risk of overweight in baseline normal weight subjects was predicted using logistic regression analyses, where only normal weight subjects at baseline were included. RESULTS: More males remained in the overweight or obese category than females: 86.7% (95% CI: 73.2, 94.9) vs 71.8% (95% CI: 55.1, 85.0), respectively, P=0.03. The identified predictors for future overweight were paternal obesity, odds ratio (OR): 7.1 (95% CI: 1.3, 38.0), systolic blood pressure >95th percentile, OR: 8.9 (95% CI: 1.9, 41.7), high triglyceride levels, OR: 4.2 (95% CI: 1.0, 16.9) and low HDL-cholesterol levels, OR: 7.6 (95% CI: 1.7, 34.3). CONCLUSIONS: Triglycerides and HDL-cholesterol levels have been proved predictors for overweight in early adolescence for the first time. The different sex pattern in BMI tracking observed, and also the different environmental influences on future overweight risk compared to other studies, indicate that local circumstances should be considered when implementing national intervention strategies for the prevention of obesity.

Adolescent↗

A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.

Y chromosome microdeletions in the azoospermia factor (AZF) locus have been associated with spermatogenic failure. The frequency of AZF deletions is estimated to be about 10-18% in subgroups of idiopathic azoospermia and severe oligospermia, whereas the deletion frequency is estimated to be about 1.5-10.6% in the general population. Patient selection criteria as well as experimental and study design are the major factors that influence the deletion frequency. We designed a nation-based population screening with a well-defined study and experimental criteria to answer, first, what is the deletion frequency in a study population of high risk for Y deletion in the Greek-Cypriot origin and second, if there are any differences in the deletion frequency in the investigated specific subgroup of patients from different geographic/ethnic origin. Eighty Greek-Cypriot patients who met the selection criteria were included in this study as well as 50 fertile control males. The sample size is quite large when compared with the size of the population. All samples were collected from all districts of the island of Cyprus as the population is of the same religious, geographic and ethnic origin. All patients and controls had detailed clinical information and at least two semen-analysis reports based on World Health Organization standards. Samples with abnormal karyotypes, obstructive azoospermia or oligospermia with >2 x 106/mL were excluded from this study. The experimental design required a referral team and laboratory to undertake the responsibility to collect all the samples, all clinical and laboratory information, isolate DNA and carry out all tests, data analysis and interpretation. In our study, Y chromosome microdeletions have been found in patients with spermatogenic failure. Under the specific patient selection criteria and experimental design, the overall frequency is 5%, while among azoospermic patients it is 12.5%. In the subgroups of patients with idiopathic cause it is 5.9% and in idiopathic azoospermia it is 14.3%. No variation in the overall deletion frequency or the specific subgroups deletion frequency were found, as compared with frequencies found in patients from different geographic/ethnic origin.

Case-Control Studies↗

Using the TOMM for evaluating children's effort to perform optimally on neuropsychological measures.

Suboptimal effort is a threat to the validity of neuropsychological evaluations. Numerous papers have been devoted to this subject and a large number of measures have been developed in an attempt to detect suboptimal effort. To date, however, the clinical literature has focused almost exclusively on identifying suboptimal effort in adults, whereas suboptimal effort among children has not been addressed thoroughly in the clinical neuropsychological literature. The present study investigated whether or not already established effort measures could be used with children. The Test of Memory Malingering (TOMM) and the Rey-15-item test were administered to 128 children in two sites, the USA and Cyprus. The results indicated that the TOMM has the potential to be used as a measure for identifying children who do not put forth maximal effort during neuropsychological evaluations. In contrast, the Rey-15-item test does not appear to be a promising measure of effort for use with children, especially younger children.

Child↗

Correlation between morphology, immunohistochemistry and molecular pathology in hereditary and sporadic breast cancer cases.

Breast cancer still represents a serious health problem and is currently the most frequent malignancy in the female population in developed countries. In Cyprus, there are 300 new cases annually. In the present study, histology, electron microscopy, immunohistochemistry, and Western blot analysis were used to investigate 100 cases of invasive breast carcinoma. In addition, mutation analysis for the BRCA1 gene was carried out in patient DNA from 26 families with multiple cases of breast/ovarian cancers. Of note are the results of molecular biology which show that there are no germline truncating mutations in the BRCA1 gene in these 26 Cypriot breast cancer families. Furthermore, Western blot analysis revealed the presence of multiple BRCA1 bands in homogenates of tumor and normal tissues, and immunoelectron microscopy showed the presence of nuclear staining for BRCA1 antibodies.

Adult↗

Low Prevalence of the HBB c.20A&#x2009;>&#x2009;T (HbS) Allele in a Turkish Cypriot Cohort: A Molecular Screening Study.

Sickle cell disease is caused by the HBB c.20A&#x2009;>&#x2009;T (p.Glu6Val; HbS) variant. Although Cyprus has a long-standing hemoglobinopathy prevention program, current population-specific data on HbS among Turkish Cypriots remain limited. Two hundred unrelated Turkish Cypriot adults were included. The HBB c.20A&#x2009;>&#x2009;T variant was genotyped by PCR-RFLP and confirmed by allele-specific real-time PCR. Genotype distribution was evaluated for Hardy-Weinberg equilibrium. No homozygous HbS genotype was detected. Three individuals were heterozygous carriers (AS), corresponding to a carrier frequency of 1.5%. The HbS allele frequency was 0.7%, and the genotype distribution was consistent with Hardy-Weinberg equilibrium (p&#xa0;=&#xa0;0.916; chi-square = 0.011). HbS was uncommon in this Turkish Cypriot cohort. These findings support continued hemoglobinopathy surveillance and the integration of HbS counseling into existing premarital and population screening strategies, particularly as migration may alter local carrier frequencies over time.

Humans↗

Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation.

Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly equidistant clades, termed subtypes. Although there are no known phenotypic correlates for these genotypes, the disproportionate spread of certain of these lineages has been taken to indicate that subtype-specific biological differences may exist. The subtype nomenclature thus remains an important molecular epidemiological tool with which to track the course of the group M pandemic. In this study, we have characterized HIV-1 strains described previously as unusual subtype A variants on the basis of partial sequence analysis. Six such strains from Cyprus (CY), South Korea (KR), and the Democratic Republic of Congo (CD) were PCR amplified from infected cell culture or patient PBMC DNA, cloned, and sequences in their entirety (94CY017, 97KR004, 97CDKTB48, and 97CDKP58) or as half genomes (97CDKS10 and 97CDKFE4). Distance and phylogenetic analyses showed that four of these viruses (94CY017, 97CDKTB48, 97CDKFE4, and 97CDKS10) were closely related to each other, but quite divergent from all other HIV-1 strains, except for subtype A viruses, which represented their closest relatives. In phylogenetic trees from gag, pol, env, and nef regions, the four newly characterized HIV-1 strains formed a distinct sister clade to subtype A, which was as closely related to subtype A as subsubtypes F1 and F2 are to each other. According to current nomenclature rules, this defines a subsubtype, which we have tentatively termed A2. The two other viruses, 97KR004 and 97CDKP58, as well as a full-length HIV-1 sequence from the sequence database (ZAM184), were found to represent complex A2/D, A2/G, and A2/C recombinants, respectively. These results indicate that HIV-1 subtype A is composed of two subsubtypes (A1 and A2), both of which appear to have a widespread geographic distribution. The A2 viruses described here represent the first reference reagents for this new group M lineage.

Cyprus↗

Molecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.

Phylogenetic analysis of partial env sequences of HIV-1 isolates from Cyprus and Greece suggested the existence of a distinct subtype of the virus, designated as I. We examined whether this subtype represents a distinct group, or a mosaic consisting of previously characterized subtypes. The full-length sequences under consideration were recovered from serum samples of "subtype I" obtained from two nonepidemiologically linked HIV-1-infected subjects in Greece. The first subject was an intravenous drug user (IDU), while the second was a vertically infected child born in 1984 whose parents were both IDUs. A variety of methods, such as diversity plots as well as phylogenetic and informative site analyses, were used to classify the DNA sequences. Subsequent detailed analysis revealed a unique genomic organization composed of alternating portions of subtypes A, G, and I. The two Greek isolates formed a distinct group in most of the pol, gp120, and gp41 regions, and in the vif/vpr, vpu, LTR, and 5' terminus of nef. In contrast, different parts of env and gag as well as the 3' pol region, and the first exons of tat and rev, appeared to have arisen from subtypes A and G. Our results indicate that subtype I, which was probably circulating in Greece in the early 1980s, is a triple mosaic consisting of A, G, and I sequences.

Adolescent↗

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.

Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The objective of the present study was the clinical and molecular characterization of the first two Greek Cypriot families diagnosed with MEN2A and FMTC. The clinical diagnosis of the probands was based on clinical presentation and supported with laboratory findings (calcitonin and carcinoembryonic antigen tumor marker levels). We screened the RET gene by direct DNA sequencing of exons 10, 11, and 16 using genomic DNA as templates. After identification of the mutation, we also developed the amplification refractory mutation system (ARMS) as an alternative method to direct sequencing for genetic diagnosis of 22 additional individuals from both families. We identified the germ-line missense mutation T --> C of codon 618 of exon 10 (C618R) in the probands of both families. By using ARMS, two members of the MEN2A family and five members of the FMTC family were also found positive for the C618R mutation. These are the first seemingly unrelated families in Cyprus investigated clinically and molecularly in detail and shown to transmit this common RET proto-oncogene mutation.

Adolescent↗

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. The GLB1 gene gives rise to two alternatively spliced mRNAs that encode the beta-galactosidase and the elastin binding protein (EBP). The diagnosis of two patients with the infantile form of GM1 gangliosidosis and 11 carriers in a small mountainous village in Cyprus prompted us to carry out a study in order to establish the frequency of carriers in the village and identify the mutations involved. Carrier detection was initially based on the measurement of beta-galactosidase activity in leucocytes. Among 85 random samples from the village, 10 were classified as carriers. Sequencing of the GLB1 gene in a Cypriot patient identified the missense mutation c.1445G>A (p.Arg482His) in the homozygous state. Seven of the 10 carriers identified using the enzyme assay were found to carry the same mutation by NspI restriction enzyme analysis. The three individuals who were negative for the c.1445G>A had borderline enzyme results and were probably wrongly classified as carriers. The frequency of GM1 gangliosidosis carriers in this village is approximately 8% (1:12). Western blot analysis showed a marked decrease of the 64-kDa mature form of the enzyme protein and a similar reduction of the 67-kDa EBP. Our results indicate that the c.1445G>A mutation, which appears to be responsible for all GM1 gangliosidosis alleles in this Cypriot village, affects protein conformation.

Adult↗

Airborne 222Rn concentration in Cypriot houses.

Studies from a pilot survey in 89 houses in Cyprus show that the arithmetic mean for the housing stock is about 7 Bq m-3 and the annual effective dose equivalent to the population from radon progeny is < 330 microSv y-1. Four houses have values > 30 Bq m-3, corresponding to two standard deviations from the mean value. The highest value recorded was 78 Bq m-3. These results are considerably lower than those of other countries reported in the literature. Radon concentrations in houses is correlated to the local geology. The highest concentrations are in houses built on Chalk formations with an average value of 9.29 Bq m-3 (standard deviation 19.69 Bq m-3). The lowest concentrations are in houses built on Olivine Basalt formations with an average value of 0.50 Bq m-3 (standard deviation 0.80 Bq m-3).

Air Pollution, Indoor↗