Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 64
Filtrar
1.
Braz J Microbiol ; 51(4): 1711-1717, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32734471

RESUMO

Recent UNAIDS reports (December 2019) indicate that 37.9 million people have been affected by HIV infection around the globe in 2018, of which 1.7 million are cited as new infections. Human immunodeficiency virus-1 (HIV-1) requires both the CD4 receptor, as the primary receptor, and a chemokine co-receptor to gain entry into the cell. In addition to the WT allele for C-C motif chemokine receptor 5 (CCR5-wt), there is another allele with a 32 bp deletion in the protein coding region (CCR5-Δ32). Individuals who are homozygous for the mutant allele are resistant towards M-tropic HIV infections. In the current study, we aimed to determine the CCR5-Δ32 allele frequency in the Turkish Cypriot population with 326 subjects, 141 men (43.1%) and 185 (56.9%) women. The region of the CCR5 gene containing the Δ32 deletion was amplified using flanking primers. The CCR5 gene Δ32 allele frequency was calculated at 3% and only observed in heterozygous individuals. We hope that our current publication could be a point of dialog between the physicians, the government officials and the public set up a more modern and well-structured HIV screening program in an effort to control and hopefully eliminate HIV from the Turkish Cypriot population.


Assuntos
Receptores CCR5/genética , População Branca/genética , Alelos , Chipre/etnologia , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Genótipo , Infecções por HIV/etnologia , Infecções por HIV/genética , HIV-1 , Humanos , Masculino , Mutação , Turquia/epidemiologia
2.
Mol Biol Rep ; 46(3): 3349-3355, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30977086

RESUMO

Vitamin D is an important molecule to keep teeth, bones and muscles healthy. It is obtained from diet, supplements and primarily from exposure to sunlight. In recent years, vitamin D deficiency is recognised as a worldwide health problem, which results in disturbances in mineral metabolism and skeletal problems. Deficiency might be caused due to sedentary lifestyle, insufficient diet, age as well as some polymorphisms in the VDR gene. In this study the four most common VDR polymorphisms (rs1544410 (BsmI), rs731236 (TaqI), rs7975232 (ApaI) and rs2228570 (FokI)) are investigated in a cohort of Turkish Cypriots and aimed to detect any possible links between low serum vitamin D levels and these variants. The rs2228570 (FokI) variant but not others were shown to have a significant association with decreased serum vitamin D levels in the Turkish Cypriot population.


Assuntos
Receptores de Calcitriol/genética , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/genética , Vitamina D/sangue , Adulto , Idoso , Estudos de Casos e Controles , Chipre/etnologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol/metabolismo , Fatores de Risco , Turquia
3.
BMC Health Serv Res ; 18(1): 968, 2018 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-30547797

RESUMO

BACKGROUND: Family-centered care has been receiving increased attention during the last decades and health professionals recognize family satisfaction with care as an important health indicator. The Empowerment of Parents in The Intensive Care-Neonatology (EMPATHIC-N) is a newly developed, yet empirically reliable and valid measure for the assessment of parental satisfaction with the care provided by Neonatal Intensive Care Units (NICU). The present study aims to present the Greek version of the EMPATHIC-N and to confirm its factorial structure. METHODS: The EMPATHIC-N was translated in Greek using a forward-backward translation and was piloted before use. A sample of 256 families receiving intensive care at the NICU of Archbishop Makarios III Public Hospital in Cyprus which is the only NICU in Cyprus, participated in the validation study of the EMPATHIC-N. Confirmatory factor analyses were performed using SPSS and AMOS 24.0. RESULTS: The Greek version of the EMPATHIC-N had good psychometric characteristics (Cronbach's alpha = .87). The CFAs for the separate subscales of professionalism, organization, information, parental involvement and intervention for the EMPATHIC-N showed that all five subscales represented five distinct components of parental satisfaction with care. The CFA of the general instrument supported that a second-order model with a higher-order factor reflecting the organizational structure (professionalism, intervention and organization loaded on this factor) fitted the data best [χ2 (259) = 405.332, p < .001, ΤLI = .887, CFI = .903, RMSEA = .065 (90% CI .058, .073), SRMR = .0597]. CONCLUSIONS: EMPATHIC-N is a valid and reliable measure for the assessment of parental satisfaction with neonatal care in a Greek-Cypriot context. The organizational dimension of the NICUs is an important component with specific research and clinical implications for the enhancement of parental satisfaction with care.


Assuntos
Terapia Intensiva Neonatal/normas , Satisfação Pessoal , Poder Psicológico , Inquéritos e Questionários/normas , Chipre/etnologia , Análise Fatorial , Saúde da Família/normas , Feminino , Grécia/etnologia , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/organização & administração , Unidades de Terapia Intensiva Neonatal/normas , Masculino , Neonatologia/normas , Pais/psicologia , Psicometria , Traduções
4.
Heart Surg Forum ; 20(5): E223-E229, 2017 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-29087287

RESUMO

BACKGROUND: The distribution of gene variants in the Turkish Cypriot population with coronary artery disease has not been investigated. In this study, we sought to research different genetic variants in the susceptibility to coronary artery disease and to identify possible associations between various clinical parameters and the genes involved in blood coagulation as well as glucose and lipid metabolism among the Turkish Cypriots and compared the results with the respective Turkish patients from Turkey. Methods: A total of 187 individuals with coronary artery disease, namely 87 Turkish Cypriot individuals from Northern Cyprus, and 100 Turkish patients from Turkey, were investigated. The presence of CAD was documented with coronary angiography. The genetic susceptibility to coronary artery disease in the cohorts was studied using the variants FV Leiden (G1691A), Factor V R2 mutation (FVR2)(H1299R), PTH (G20210A), FXIII (V34L), ß-Fibrinogen (-455 G>A), PAI-1 (4G/5G), HPA1 (a/b), MTHFR [C677T] and [A1298C], ACE (I/D), Apo B (R3500Q), and Apo E, in addition to the well-known risk factors associated with coronary artery disease. RESULTS: Age, male sex, diabetes mellitus, hyperlipidemia, triglycerides, HDL, and triglyceride/HDL ratio were significantly associated with (P < .05); LDL (P = .05) and total cholesterol (P = .08) was marginally associated with coronary artery disease in the Turkish Cypriot population. The mutations in the MTHFR [C677T] gene variant were marginally higher in the Turkish Cypriot cohort when compared with the Turkish patients from Turkey (P = .06). No significant direct association of any of the gene variants with coronary artery disease in the Turkish Cypriot cohort could be defined. Several of the genetic variants were associated indirectly with the risk factors for coronary artery disease in Turkish Cypriots. MTHFR [A1298C] was found to be marginally associated with low HDL cholesterol (P = .08). MTHFR [C677] wild-type allele was significantly associated with a decreased rate of high LDL cholesterol (P < .05). The HPA-1 a/b variant was significantly associated with an increased rate of high total cholesterol levels (P < .05). Conclusion: Turkish Cypriot patients with coronary artery disease may be more affected by secondary factors, such as diabetes, hypertension, obesity, and sedentary life style when compared with genetic factors, which may be responsible for coronary artery disease.


Assuntos
Aterosclerose/genética , Doença da Artéria Coronariana/genética , Etnicidade/genética , Predisposição Genética para Doença , Adulto , Distribuição por Idade , Idoso , Aterosclerose/diagnóstico , Aterosclerose/etnologia , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/etnologia , Chipre/etnologia , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Fatores de Risco , Distribuição por Sexo , Turquia/epidemiologia
5.
Evol Psychol ; 15(3): 1474704917725303, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28868895

RESUMO

Across different times and cultures, parents exercise considerable influence over their children's mate choices. When they do so, parents are looking for specific traits in a prospective daughter- and son-in-law. Using a sample of 674 parents, the current research investigated in-law preferences in China. Participants rated 88 different traits, which were clustered in 10 different preference domains. In-law preferences were found to be contingent on the sex of the in-law and the sex of the parent. The data from the current study were compared with data from a different study which took place in the Republic of Cyprus. It was found that preferences varied in the two samples, but specific cultural differences were identified. It was also found that for both samples, the 10 different domains clustered in two supra-domains. The first supra-domain, where personality traits clustered, was preferred more by both Chinese and Greek-Cypriot parents than the second domain, where the rest of the traits clustered.


Assuntos
Crianças Adultas/etnologia , Comportamento de Escolha , Comparação Transcultural , Casamento/etnologia , Pais , Personalidade , Adolescente , Adulto , China/etnologia , Chipre/etnologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Adulto Jovem
6.
PLoS One ; 12(6): e0179474, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28622394

RESUMO

Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages. In terms of more recent (past millennium) ancestry, as indicated by Y-haplotype sharing, GCy and TCy share much more haplotypes between them than with any surrounding population (7-8% of total haplotypes shared), while TCy also share around 3% of haplotypes with mainland Turks, and to a lesser extent with North Africans. In terms of Y-haplogroup frequencies, again GCy and TCy show very similar distributions, with the predominant haplogroups in both being J2a-M410, E-M78, and G2-P287. Overall, GCy also have a similar Y-haplogroup distribution to non-Turkic Anatolian and Southwest Caucasian populations, as well as Cretan Greeks. TCy show a slight shift towards Turkish populations, due to the presence of Eastern Eurasian (some of which of possible Ottoman origin) Y-haplogroups. Overall, the Y-chromosome analysis performed, using both Y-STR haplotype and binary Y-haplogroup data puts Cypriot in the middle of a genetic continuum stretching from the Levant to Southeast Europe and reveals that despite some differences in haplotype sharing and haplogroup structure, Greek Cypriots and Turkish Cypriots share primarily a common pre-Ottoman paternal ancestry.


Assuntos
Cromossomos Humanos Y/genética , Haplótipos , População Branca/etnologia , População Branca/genética , Chipre/etnologia , Humanos , Masculino
8.
Int J Eat Disord ; 48(4): 431-5, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-24902544

RESUMO

OBJECTIVE: This study aimed to assess possible relationships and predictor variables between disordered eating attitudes and behaviors, the internalization of the thin ideal construct, body image satisfaction, body image investment, weight-related anxiety, and body mass index (BMI) among Greek-Cypriot female university students in Cyprus. METHOD: A total of 243 female university students responded to self-report measures assessing disordered eating, internalization of the thin ideal, body satisfaction, body image investment, and weight-related anxiety. RESULTS: Disordered eating was positively correlated to the internalization of the thin ideal, body image investment, weight-related anxiety, and BMI and negatively correlated with body image satisfaction. The internalization of the thin ideal was also positively correlated to weight-related anxiety and body image investment and negatively correlated to body image satisfaction. Furthermore, weight-related anxiety and internalization of the thin ideal have been found to be significant predictors of disordered eating attitudes. DISCUSSION: Possible explanations and vulnerability factors are addressed, as well as implication for prevention strategies and future research.


Assuntos
Imagem Corporal/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Satisfação Pessoal , Adolescente , Adulto , Ansiedade/etnologia , Ansiedade/psicologia , Atitude Frente a Saúde/etnologia , Transtornos Dismórficos Corporais/etnologia , Transtornos Dismórficos Corporais/psicologia , Índice de Massa Corporal , Peso Corporal/etnologia , Peso Corporal/fisiologia , Chipre/etnologia , Transtornos da Alimentação e da Ingestão de Alimentos/etnologia , Feminino , Grécia/etnologia , Humanos , Fatores de Risco , Autoimagem , Magreza/etnologia , Magreza/psicologia , Adulto Jovem
9.
Forensic Sci Int Genet ; 14: e1-3, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25270185

RESUMO

Fifteen autosomal short tandem repeat (STR) markers [D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA] were analyzed in 501 unrelated, randomly selected Turkish Cypriot individuals from the island of Cyprus. While no locus duplications or null alleles were detected in these samples, eight allelic variants were observed in total, 75% of which were intermediate allelic variants that were absent in the system allelic ladder. Allelic frequencies and statistical parameters of forensic interest were calculated at each locus. For the 15 STR loci tested, combined matching probability (pM) was 2.15717 × 10(-18) and combined power of exclusion (PE) was 0.9999995213. No deviations from the Hardy-Weinberg equilibrium were observed, except for the vWA locus, which became insignificant after the Bonferroni correction for multiple testing. Locus-by-locus comparisons of the Turkish Cypriot allelic frequencies with those published for the neighboring and/or historically related populations with similar loci coverage (Turkish, Greek, Greek Cypriot, Italian and Lebanese) revealed some statistically significant differences at one to five loci. In general, an increase in the number of such significant differences between the Turkish Cypriot data and those for other populations correlated closely with an increase in the geographic distance and/or a decrease in the amount of historical contact. The Turkish Cypriot autosomal STR population study will find immediate use in the Committee on Missing Persons in Cyprus Project on the "Exhumation, Identification and Return of Remains of Missing Persons" and it will also be available for criminal, parentage and other missing person investigations.


Assuntos
Genética Populacional , Alelos , Chipre/etnologia , DNA/genética , Humanos , Repetições de Microssatélites , Turquia
10.
Forensic Sci Int Genet ; 10: e1-e3, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24507085

RESUMO

We analyzed seventeen Y-chromosomal short tandem repeats (STRs) [DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448] in 253 unrelated, male individuals from the Turkish Cypriot population of the Eastern Mediterranean island of Cyprus. While 206 out of the 253 haplotypes present in the dataset were unique, there are also 22 haplotypes that were observed in two individuals each, and 1 haplotype that was observed in three individuals. While no locus duplications or null alleles were observed in our dataset, we have detected 43 allelic variants in total, the majority of which (25 out of 253 haplotypes or 9.88%) comprised of .2 intermediate variants at the DYS458 locus (alleles 16.2, 17.2, 18.2, 19.2, and 20.2). For the 229 different haplotypes observed in the Turkish Cypriot dataset, the calculated discrimination capacity (DC) was 0.9051 and the haplotype diversity (HD) was 0.9992. The calculated average gene diversity (GD) values ranged from 0.3828 to 0.9631 for the DYS392 and DYS385a/b loci, respectively. Pairwise genetic distance comparisons of the Turkish Cypriot Y-STR dataset with those from the neighbouring (Turkey, Greece, Israel/Palestinian Authority area, Egypt and Italy) and relatively distant (Lithuania, Taiwan and Australia) countries through the use of analysis of molecular variance (AMOVA) and multi-dimensional scaling (MDS) analyses confirmed that our data do not deviate significantly from the typical core haplotypes of the Eastern Mediterranean region. The Turkish Cypriot Y-STR haplotype dataset will find an immediate use in the Committee on Missing Persons in Cyprus Project on the "Exhumation, Identification and Return of Remains of Missing Persons" and it is also expected to contribute to the establishment of forensic genetic services in North Cyprus.


Assuntos
Cromossomos Humanos Y , Marcadores Genéticos , Repetições de Microssatélites , Chipre/etnologia , Humanos , Reação em Cadeia da Polimerase , Turquia
11.
Emotion ; 12(6): 1192-5, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22642339

RESUMO

Intergroup contact plays a crucial role in moderating long-term conflicts. Unfortunately, the motivation to make contact with outgroup members is usually very low in such conflicts. We hypothesized that one limiting factor is the belief that groups cannot change, which leads to increased intergroup anxiety and decreased contact motivation. To test this hypothesis, we experimentally manipulated beliefs about group malleability in the context of the conflict between Greek and Turkish Cypriots and then assessed intergroup anxiety and motivation to engage in intergroup contact. Turkish Cypriots who were led to believe that groups can change (with no mention of the specific groups involved) reported lower levels of intergroup anxiety and higher motivation to interact and communicate with Greek Cypriots in the future, compared with those who were led to believe that groups cannot change. This effect of group malleability manipulation on contact motivation was mediated by intergroup anxiety.


Assuntos
Ansiedade/psicologia , Atitude/etnologia , Conflito Psicológico , Processos Grupais , Relações Interpessoais , Motivação/fisiologia , Adulto , Idoso , Chipre/etnologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Psicológicos , Adulto Jovem
12.
Lancet ; 376(9743): 794-801, 2010 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-20800271

RESUMO

BACKGROUND: Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a familial disorder of complement regulation associated with persistent microscopic haematuria, recurrent macroscopic haematuria, glomerulonephritis, and progressive renal failure. METHODS: We sought patients from the West London Renal and Transplant Centre (London, UK) with unusual renal disease and affected family members as a method of identification of new genetic causes of kidney disease. Two families of Cypriot origin were identified in which renal disease was consistent with autosomal dominant transmission and renal biopsy of at least one individual showed C3 glomerulonephritis. A mutation was identified via a genome-wide linkage study and candidate gene analysis. A PCR-based diagnostic test was then developed and used to screen for the mutation in population-based samples and in individuals and families with renal disease. FINDINGS: Occurrence of familial renal disease cosegregated with the same mutation in the complement factor H-related protein 5 gene (CFHR5). In a cohort of 84 Cypriots with unexplained renal disease, four had mutation in CFHR5. Overall, we identified 26 individuals with the mutation and evidence of renal disease from 11 ostensibly unrelated kindreds, including the original two families. A mutant CFHR5 protein present in patient serum had reduced affinity for surface-bound complement. We term this renal disease CFHR5 nephropathy. INTERPRETATION: CFHR5 nephropathy accounts for a substantial burden of renal disease in patients of Cypriot origin and can be diagnosed with a specific molecular test. The high risk of progressive renal disease in carriers of the CFHR5 mutation implies that isolated microscopic haematuria or recurrent macroscopic haematuria should not be regarded as a benign finding in individuals of Cypriot descent. FUNDING: UK Medical Research Council and Wellcome Trust.


Assuntos
Proteínas Sanguíneas/genética , Complemento C5/genética , Fator H do Complemento/genética , Glomerulonefrite/genética , Glomerulonefrite/patologia , Falência Renal Crônica/etiologia , Mutação , Adulto , Idoso , Proteínas do Sistema Complemento , Chipre/epidemiologia , Chipre/etnologia , Doenças Endêmicas , Feminino , Estudo de Associação Genômica Ampla , Glomerulonefrite/sangue , Glomerulonefrite/complicações , Glomerulonefrite/epidemiologia , Humanos , Falência Renal Crônica/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Polimorfismo de Nucleotídeo Único
13.
J Neurol Sci ; 284(1-2): 158-62, 2009 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-19493541

RESUMO

BACKGROUND: Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin (TTR) gene. Amyloid, composed of mutated TTR, is deposited in the peripheral nervous system, myocardium and kidneys. Considerable variability in the age of onset and penetrance of the disease occurs in different countries. Penetrance in Sweden, Cyprus and Portugal is 2%, 28% and 80% respectively. Environmental and genetic factors are believed to contribute to this variability. So far, no single modifier gene has been unequivocally associated with age of onset or penetrance. METHODS: Candidate modifier genes were chosen from among those coding for chaperone proteins co-localized with TTR deposits in peripheral nerves. Seventy one TTRVal30Met carriers, 51 affected and 20 asymptomatic, belonging to 22 unrelated Greek-Cypriot families, and 59 normal controls were recruited for this study. Sequencing of the coding regions of TTR, serum amyloid P (APCS) and complement C1Q (A, B and C) genes was performed and APOE genotypes were determined. We searched for correlations between various polymorphisms of chaperone proteins and age of disease onset. RESULTS: Four new and 4 previously described single nucleotide substitutions were identified. One polymorphic site in C1QA (rs172378) and one in C1QC (rs9434) as well as the epsilon2 allele correlated with age of onset (p<0.05). CONCLUSIONS: Our study has identified polymorphisms which may influence the FAP-TTR Val30Met phenotype. Identifying modifier genes and their protein products may contribute to therapeutic advances.


Assuntos
Neuropatias Amiloides Familiares/genética , Amiloide/genética , Complemento C1q/genética , Polimorfismo de Nucleotídeo Único , Pré-Albumina/genética , Adulto , Idade de Início , Idoso , Amiloide/química , Amiloide/metabolismo , Neuropatias Amiloides Familiares/epidemiologia , Neuropatias Amiloides Familiares/etnologia , Apolipoproteína E2/genética , Apolipoproteína E2/fisiologia , Complemento C1q/fisiologia , Chipre/etnologia , Éxons/genética , Feminino , Frequência do Gene , Genótipo , Grécia/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares/genética , Pré-Albumina/química , Pré-Albumina/metabolismo , Componente Amiloide P Sérico/genética
14.
J Gen Psychol ; 135(2): 183-202, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18507317

RESUMO

Participants were 67 Cypriot adolescents who responded to propositions regarding positive, negative, and noncontingent relations between freedom and responsibility. The authors framed items so that half dealt with freedom given responsibility, and the other half dealt with responsibility given freedom. Results indicated participants were more likely to endorse positive-contingency items than they were negative and noncontingency items when items were framed around freedom given responsibility. However, when items were framed around responsibility given freedom, no such differences emerged. The authors discuss results relative to cultural and sociopolitical differences and similarities between children in Cypress and participants in the United States and implications concerning the present study and previous studies regarding these constructs.


Assuntos
Liberdade , Psicologia do Adolescente , Responsabilidade Social , População Branca/psicologia , Adolescente , Atitude , Comparação Transcultural , Cultura , Chipre/etnologia , Feminino , Humanos , Masculino , Modelos Psicológicos , Política , Amostragem , Estados Unidos , População Branca/estatística & dados numéricos
15.
Genet Test ; 12(2): 273-8, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18439107

RESUMO

Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently described 10 Cypriot families with familial hematuria and thin basement membrane nephropathy in the presence of focal segmental glomerulosclerosis, with founder mutations on COL4A3 gene. Seven of the families carried mutation G1334E on haplotype K, and another three carried mutation G871C on haplotype Ky. In this report we performed extension of the haplotypes with additional polymorphic markers, 12 for haplotype K and 22 for haplotype Ky, to estimate the linkage disequilibrium value between the mutation and flanking noncommon markers. Haplotype Ky extended to 13.71 Mb, but we did not attempt further analysis owing to the small number of chromosomes. Haplotype K extended to 3.83 Mb, thereby suggesting that it was a much older event compared to mutation G871C. Mutation G1334E was calculated to be about 5-10 generations old with a possible origin between 1693 and 1818 AD, during the Ottoman ruling of the island. Both mutations are clustered in specific geographic regions with apparently formerly isolated populations, although mutation G1334E has been detected elsewhere on the island. The identification of founder mutations in large families with microscopic hematuria greatly facilitates presymptomatic diagnosis and provides useful information on the history of the population, while it may also assist in association studies in search for disease modifier genes.


Assuntos
Autoantígenos/genética , Colágeno Tipo IV/genética , Efeito Fundador , Membrana Basal Glomerular/patologia , Nefropatias/genética , Mutação , População Branca/genética , Autoantígenos/história , Colágeno Tipo IV/história , Chipre/etnologia , Família/etnologia , Glomerulosclerose Segmentar e Focal/diagnóstico , Glomerulosclerose Segmentar e Focal/genética , Haplótipos , História do Século XVIII , Humanos , Nefropatias/diagnóstico , Desequilíbrio de Ligação , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/genética , Linhagem
16.
Circulation ; 114(16): f161-2, 2006 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-17043174
17.
Eur Heart J ; 27(18): 2208-16, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16893920

RESUMO

AIMS: To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively. METHODS AND RESULTS: One hundred and eighty-seven individuals belonging to ARVC families, four with dominant PKP2 mutations and 12 with recessive JUP mutation underwent serial non-invasive cardiac assessment. Survival and arrhythmic events were evaluated prospectively up to 21 years (median 8.5 years). Sixteen of 22 PKP2 carriers and all 26 homozygous JUP carriers fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years. Clinical disease expression did not differ significantly between PKP2 and JUP carriers. T-wave inversion in leads V1-V3, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles were the most sensitive/specific markers for identification of mutation carriers. QRS dispersion > or =40 ms was an independent predictor of syncope but not of sudden death. CONCLUSION: Mutations in PKP2 and JUP express similar cardiac phenotype. Non-invasive family screening may largely be based on T-wave inversion, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles to identify mutation carriers.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Deleção de Genes , Placofilinas/genética , gama Catenina/genética , Adolescente , Adulto , Displasia Arritmogênica Ventricular Direita/diagnóstico , Criança , Chipre/etnologia , Intervalo Livre de Doença , Ecocardiografia , Eletrocardiografia Ambulatorial , Feminino , Genótipo , Grécia/etnologia , Heterozigoto , Homozigoto , Humanos , Masculino , Linhagem , Fenótipo , Prognóstico , Medição de Risco
18.
J Soc Psychol ; 146(4): 405-21, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16894701

RESUMO

The authors examined the attitudes of 106 Greek Cypriots toward Turkish Cypriots and Turkish immigrants on Cyprus. The authors examined Greek Cypriot attitudes, willingness to cohabit with Turkish Cypriots and Turkish immigrants, and the reasons behind their attitudes in terms of their social-identity perceptions, victimization experiences, and human-rights concerns. A series of repeated measures analyses of variance showed that Greek Cypriots were more willing to cohabit with and had less negative attitudes toward Turkish Cypriots than they were with and toward Turkish immigrants. Women felt more victimized by Turkish Cypriots and Turkish immigrants than did men. Perceived differences in social identity predicted unwillingness to cohabit with Turkish Cypriots. Feelings of victimization predicted negative attitudes toward Turkish Cypriots. Differences in social identity and victimization experiences predicted unwillingness to cohabit with Turkish immigrants. Differences in social identity predicted negative attitudes toward Turkish immigrants. The authors discussed the findings in terms of support for realistic group conflict theories of attitudes and their implications for the coexistence of these ethnic groups in Cyprus and of other ethnic groups in multicultural societies.


Assuntos
Atitude/etnologia , Diversidade Cultural , Emigração e Imigração , Conflito Psicológico , Comparação Transcultural , Chipre/epidemiologia , Chipre/etnologia , Feminino , Grécia/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Turquia/etnologia
19.
Clin Genet ; 69(5): 404-9, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16650078

RESUMO

Familial adenomatous polyposis (FAP) is one of the two commonest familial syndromes that predispose to colorectal cancer. FAP is caused by mutations in the adenomatous polyposis coli (APC) tumour suppressor gene that has a high penetrance. The disease is characterized by the occurrence of hundreds to thousands of colorectal polyps, which if left untreated give rise to colorectal cancer. In Cyprus, there are no molecular data available as yet on families with FAP. This work presents the results of APC analysis in our population for the first time. The APC gene was analyzed in 33 DNA samples from 20 individuals belonging to four FAP families and 13 patients with sporadic polyposis. We identified three truncating mutations, four missense mutations and 11 polymorphisms. It is of interest that two of the three truncating mutations, 2307delA and Q1242X, are novel, which supports the existence of a unique genetic pool in the Cypriot population. This ethnic molecular study in addition to highlighting population heterogeneity also contributes to phenotype-genotype associations that are essential for the clinical management of FAP families in Cyprus.


Assuntos
Polipose Adenomatosa do Colo/genética , Genes APC , Mutação em Linhagem Germinativa , Polipose Adenomatosa do Colo/diagnóstico , Adolescente , Adulto , Chipre/etnologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético
20.
Psychol Rep ; 94(2): 517-22, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15154181

RESUMO

This study explored 60 Greek-Cypriot managers' perceptions of different dimensions of leadership. Analyses using structural equation modeling were performed to examine the invariance of the Flamholtz six-factor leadership model. The same leadership styles observed in samples from countries previously studied were present in the sample from Cyprus. In terms of the importance assigned to each style of leadership, Cypriot managers emphasized the more directive styles to a greater extent than other styles.


Assuntos
Comparação Transcultural , Liderança , Modelos Psicológicos , Adulto , Características Culturais , Chipre/etnologia , Etnicidade/psicologia , Análise Fatorial , Feminino , Processos Grupais , Humanos , Masculino , Modelos Estatísticos , Gestão de Recursos Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...