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PubMed1998

Comparative studies of quality and bioavailability of methotrexate in Thai patients with rheumatoid arthritis.

The bioavailability of the two generic methotrexate oral preparations (Emtrexate, Pharmachemie Company, Holland and Methotrexate Remedica, Remedica, Cyprus as the test preparations), were compared to the innovator (Methotrexate Lederle, Lederle, U.S.A. as the reference) in 10 patients with rheumatoid arthritis. A single 7.5 mg oral dose of each preparation was given to the subjects in a randomized, double-blind, three-period crossover design with a 1 week washout period. Serum methotrexate concentrations were determined by using Fluorescence Polarization Immunoassay (Abbott TDx). No significant differences in pharmacokinetic parameters (AUC, Cmax, and Tmax) were observed between the test and reference preparations. The mean and 90 per cent CI of the ratio Emtrexate/Methotrexate Lederle and Methotrexate Remedica/Methotrexate Lederle of the Cmax, AUC0-8, and AUC0-alpha were 0.93 (0.87-1.00), 0.9 (0.82-0.98), 0.88 (0.79-0.99) and 0.97 (0.93-1.02), 0.95 (0.90-0.99), 0.94 (0.86-1.02), respectively. These values were well within the acceptable bioequivalence range of 0.8-1.25. The mean and 90 per cent CI of Tmax difference between Emtrexate-Methotrexate Lederle and Methotrexate Remedica-Methotrexate Lederle also overlapped the stipulated bioequivalence range of the Tmax differences of +/- 0.25 hour. Thus, Emtrexate and Methotrexate Remedica were considered bioequivalent to the reference Methotrexate Lederle regarding the rate of absorption and the extent of absorption.

Adult↗
PubMed1998

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people are known to be affected, but several younger relatives with normal renal function may remain undiagnosed because of the absence of precise clinical and laboratory diagnostic criteria. This nephropathy is associated with medullary renal cysts, hypertension, hyperuricemia, and gout. Several relatives have typical medullary cystic disease (MCD), while in the others the findings are compatible with this diagnosis. Due to the similarity of clinical and pathologic findings, earlier reports had suggested that MCD may be allelic to autosomal recessive familial juvenile nephronophthisis, which was mapped recently to chromosome band 2q13. Linkage analysis of the present family with a closely linked marker excluded linkage to the above locus. Linkage was also excluded to the PKD1 locus of adult polycystic kidney disease type 1, and up to 5 cM on either side, on chromosome 16. We suggest that because of the element of hyperuricemia and gout found in this family, although with reduced penetrance, it may represent a variant of autosomal dominant MCD of the adult type. This variability may be the result of allelic or locus heterogeneity. Molecular genetic approaches including linkage analysis on appropriate families will certainly assist in classifying such related genetically heterogeneous disorders.

Adult↗
PubMed1999

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.

Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase. In this study, we analyzed the HEXB gene of a Sandhoff carrier in the Greek-Cypriot community. A G to C transversion was identified in one allele of her HEXB gene at position 5 of the 5'-splice site of intron 8 (IVS8 nt5). One of 13 cDNA clones derived from her lymphocyte HEXB mRNA lacked the last four nucleotides "GTTG" of exon 8, which created a premature termination codon at 11 codons downstream. In vivo transcription of the mutant HEXB gene fragment in CHO cells resulted in deletion of the "GTTG." The mutation has not been found in 40 DNA samples from anonymous donors, indicating that this is not a polymorphism in the Cypriot population. These results clearly indicate that the splice site mutation at IVS8 nt5 is responsible for this case of Sandhoff disease.

Bacterial Proteins↗
PubMedDate not supplied

Absent factor II in systemic lupus erythematosus. Immunologic studies and response to corticosteroid therapy.

This report describes a patient with active systemic lupus erythematosus (SLE) who evidenced severe bleeding consequent to a profound and isolated reduction in plasma factor II (prothrombin) activity. Absence of the factor is documented by immunologic means and its return after corticosteroid therapy is demonstrated. The authors recommend inclusion of this acquired coagulopathy among other more traditional diagnostic manifestations of SLE.

Adolescent↗
PubMed1977

Some surgical aspects of homozygous beta-thalassaemia.

The surgical aspects of the management of patients with homozygous beta-thalassaemia are reviewed, and the operative findings in 10 patients with the disease who underwent splenectomy are described. Postoperatively, blood consumption was reduced and there was a longer time interval between transfusions needed to maintain the haemoglobin level. Hyperplastic lymph nodes containing erythropoietic elements are always present, and the first reported case of extrabiliary obstructive jaundice caused by this tissue is included. All the patients survived for 2-3 years after treatment and there were no serious infections. All received prophylactic oral penicillin after surgery. Cholelithiasis was not found. Two malleolar ulcers were successfully grafted with split skin after preparation of the craters with silver sulphadiazine cream.

Adolescent↗
PubMed1994

Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.

A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek-Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south-bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus.

Bulgaria↗
PubMed2003

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.

Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populations. No data exist on the role of the BRCA2 gene in the Cypriot population. In this study we present the results of characterizing mutations in the BRCA2 gene, in 26 Cypriot families with multiple cases of breast/ovarian cancer. The entire coding region, including splice sites, of BRCA2 were sequenced using cycle sequencing. In total 29 BRCA2 variants were detected which include 3 truncating mutations, 8 missense mutations, 6 polymorphisms and 12 intronic variants. The 3 truncating mutations are frameshift mutation 8984delG (exon 22), and two nonsense mutations, namely C1913X (exon 11) which is a novel mutation, and K3326X (exon 27). It is of interest that frameshift mutation 8984delG was the most frequent, since it was detected in 5 patients from three different families. Among the 6 polymorphisms detected, polymorphism T77T is novel and similarly 4 of the 12 intronic variants were also novel, namely IVS1+8G>A, IVS1-96insA, IVS4+36A>G and IVS11-51G>T. These results show that deleterious BRCA2 mutations, occur at the same frequency, about 20%, in Cypriot families, as that recorded in other European populations. We conclude that the BRCA2 gene plays a significant role in the familial breast cancer phenotype in the Cypriot population.

Adult↗
PubMed2006

The cypriot and Iranian National Mutation Frequency Databases.

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-to-use query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.

Cyprus↗
PubMed2001

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on chromosome 1q21 and it is flanked proximally by marker D1S498 and distally by D1S2125, encompassing a region of approximately 8 cm. Within this region there are a large number of transcribed genes including NPR1 that encodes the atrial natriuretic peptide receptor 1. This receptor plays a crucial role in regulation of blood pressure by facilitating salt excretion. Based on its function we hypothesized this gene as a reasonable candidate for the MCKD1 locus. DNA mutation screening was performed on the entire NPR1 gene-coding sequence and some of the 5' prime-UTR and 3'-UTR sequences. The samples investigated belonged to patients of five large ADMCKD-1 Cypriot families. The screening revealed two novel polymorphisms, one intragenic at amino acid position 939, which was occupied by either arginine or glutamine, and a second one located in the 3' prime-UTR, 29 nucleotides downstream of the NPR1 stop codon. The latter was a single nucleotide C insertion/deletion in a stretch of three or four Cs. No relationship was present between any allele of the two polymorphisms and the disease, as both alleles were observed in both affected and healthy subjects. In addition, no association was observed between the disease and another rare 8-bp deletion polymorphism at the 5' prime-UTR of NPR1 and the disease. Based on these findings it is unlikely that NPR1 is the same as the MCKD1 gene, although it is presently unknown whether it plays a disease modifying role.

3' Untranslated Regions↗
PubMed1995

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with late age of onset. Three loci have been identified, PKD1 on the short arm of chromosome 16, which has recently been isolated and characterized, PKD2 on the long arm of chromosome 4, and a third locus of unknown location, that is apparently much rarer. In families that transmit the PKD2 gene there is a significantly later age of onset of symptoms, compared with families that transmit the PKD1 gene, and in general they present with milder progression of symptomatology. For the first time we attempted molecular genetic analysis in seven Cypriot families using highly polymorphic markers around the PKD1 and PKD2 genes. Our data showed that there is genetic and phenotypic heterogeneity among these families. For four of the families we obtained strong evidence for linkage to the PKD1 locus. In two of these families linkage to PKD1 was strengthened by excluding linkage to PKD2 with the use of marker D4S423. In three other families we showed linkage to the PKD2 locus. In the largest of these families one recombinant placed marker D4S1534 distal to D4S231, thereby rendering it the closest proximal marker known to us to date. The application of molecular methods allowed us to make presymptomatic diagnosis for a number of at-risk individuals.

Aged↗
PubMed1989

The structure and validity of acculturation. Analysis of an acculturation scale.

This paper presents data from a study of acculturation in 291 Greek Cypriot immigrants from the general population of Camberwell, south London. Factor analysis was carried out, and factors were extracted using the maximum likelihood method and subjected to oblique rotation. The best solution was based on two highly correlated factors (0.64), which together explained 28% of the variance. The first factor appeared to represent Cultural Identification, the second, Language Mastery/Ethnocentricism. The construct validity of the factors was substantiated by analyses relating them to a range of other variables likely to be correlated with acculturation. Issues concerning the measurement of acculturation are discussed.

Acculturation↗
PubMed1988

Sociological explanations of economic growth.

Even if questions of how resources are distributed within and between societies are the main concern, it is necessary to continue to grapple with the issue of the causes of economic growth since economic growth and level of development continue to be among the most important causes of inequality, poverty, unemployment, and the quality of life. This paper's dependent variable is the economic growth rate of 55 less developed countries (LDCs) over 2 time periods. 1970-78 and 1965-84. The causal model consists of control variables--level of development and domestic investment in 1965--and a variety of independent variables drawn from major sociological theories of economic growth published during the last 3 decades. Multiple regression analysis shows that, net of the effects of the 2 control variables, the variables which have the strongest effect on economic growth are: 1) direct foreign investment, which has a negative effect, 2) the proportion of the population in military service, and 3) the primary school enrollment ratio, both of which have positive effects on economic growth. On the other hand, variables drawn from some theories receive no empirical support. The mass media of communications, ethnolinguistic heterogeneity, democracy and human rights, income inequality, and state-centric theory's key variable, state strength, all fail to show any significant impact on economic growth rates when the control variables and the significant independent variables are held constant. The theoretical implications of these findings are discussed.

Africa↗
PubMed2002

Factors influencing stigma: a comparison of Greek-Cypriot and English attitudes towards mental illness in north London.

BACKGROUND: Stigma about mental illness continues to run deeply in most societies, creating considerable difficulties for patients and families. Previous research points to particularly strong stigmatising attitudes in Greek and Greek Cypriots (Triandis 1989). It is unclear whether these attitudes continue to be held by UK-born Greek Cypriots. METHOD: In an area of north London which contains a large Greek-Cypriot population, we compared the attitudes towards mental illness by first- and second-generation Greek Cypriots and those of white-English ethnicity. Seventy-nine white-English participants and 91 Greek Cypriots were interviewed using a snowballing method. We used the 'Community Attitudes to Mental Illness scale' (Taylor and Dear 1981) to measure attitudes to mental illness. In addition we used questions from Wolff et al. (1996c) to measure subjects' knowledge of mental illness and contact with people with mental health problems. RESULTS: We found that Greek Cypriots had less contact with mentally ill people, were less knowledgeable about mental illness and hold more stigmatising views than their English participants. Contrary to our expectations, we found little difference in attitudes about mental illness held by first- and second-generation Greek Cypriots. Knowledge about mental illness was associated with a positive attitude towards people with mental health problems. CONCLUSIONS: Aggressive educational campaigns targeted at specific minority communities such as the Greek-Cypriot community are required to challenge the stigma attached to mental illness.

Adolescent↗
PubMed2003

A macroscopic approach to demography.

A canonical/lognormal model for human demography is established, specifying the net maternity function and the age distribution for mothers of new-borns using a single macroscopic parameter vector of dimension five. The age distribution of mothers is canonical, while the net maternity function normalizes to a lognormal density. Comparison of an actual population with the model serves to identify anomalies in the population which may be indicative of phase transitions or influences from levels outside the demographic. Tracking the time development of the parameter vector may be used to predict the future state of a population, or to interpolate for data missing from the record. In accordance with classical theoretical considerations of Backman, Prigogine, et al., it emerges that the logarithm of a mother's age is the most fundamental time variable for demographic purposes.

Adolescent↗