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Genetic screening and ethics: European perspectives.

Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns but also reflect the novelty of genetic services. In most countries, the focus for genetic screening programs has been pregnant women and newborn children. Newborn children are screened only for disorders which are treatable. Prenatal screening when provided is for conditions for which termination may be offered. The only population screening programs for adults are those for thalassaemia carrier status in Cyprus, Greece and Italy. Social responses to genetic screening range from acceptance to hostility. There is a fundamental tension between individual and community in the debates in various European countries about implementation of screening programs. Opposition to genetic screening is frequently expressed in terms of arguments about "eugenics" with insufficient regard to the meaning of the term and its implications. Only a few countries have introduced explicit legislation on genetic screening. Legislation to address discrimination may provide more safeguards than legislation protecting genetic information itself.

Adult↗

Description of the soybean pod gall midge, Asphondylia yushimai sp. n. (Diptera: Cecidomyiidae), a major pest of soybean and findings of host alternation.

The soybean pod gall midge is an important pest of soybean in Japan and is known to occur also in Indonesia and China. This gall midge is described from Japan as Asphondylia yushimai sp. n. and is clearly distinguished from its congeners by the arrangement of the lower frontal horns of the pupa and the sequence of the mtDNA COI region. It is concluded that Prunus zippeliana Miquel is a winter host of the soybean pod gall midge since haplotypes of the soybean pod gall midge coincide with those of the Prunus fruit gall midge that produces fruit galls on P. zippeliana. In addition, phenological and distributional information on the two gall midges and on their host plants supports the identification of the winter host. In Japan, the soybean pod gall midge overwinters as a first instar in the fruit galls on P. zippeliana and emerges as an adult from the galls in May. In summer and autumn, the soybean pod gall midge has two or more generations in the pods of soybean, Glycine max (L.) Merrill or wild fabaceous and caesalpiniaceous plants. Thus host alternation by A. yushimai is confirmed. This is the second finding of host alternation by a species of Asphondylia, the first instance being that of Asphondylia gennadii (Marchal) in Cyprus.

Animals↗

Neurocysticercosis: a report of four cases.

Cysticercosis is an uncommon disease in Australia. Only 4 cases of neurocysticercosis were found in our hospital with an active neurosurgical service over a 10 yr period. All 4 cases were migrants, 3 from South America and one from Cyprus. Epilepsy, aseptic meningitis and raised intracranial pressure were the common symptoms. Although the cerebral lesions were seen on CT scans, misinterpretation of the X-ray appearances readily occurs and the diagnosis can only be confirmed by histopathological examination of tissues. The pathological features are described including electron microscopy of one case. The cysticercus has a unique ultrastructure which is most helpful in establishing the diagnosis in cases were tissue sample is small and light microscopy is difficult. Neurocysticercosis can masquerade as a glioma or other space occupying lesion or aseptic meningitis. This condition should be considered in obscure neurological syndromes in migrants from affected regions of the world.

Adult↗

A Mediterranean arbovirus: the Toscana virus.

Toscana virus (Bunyaviridae family, Phlebovirus genus) is a sandfly fever virus responsible for human neurological infections. Sandfly viruses are transmitted by insect vectors (Phlebotomus species) and the infection is present in climatic areas that allow the life cycle of the vector. The arthropode-borne Toscana virus is the etiologic agent of meningitis, meningoencephalitis, and encephalitis. The frequency of this neuropathic infection increases in the summer months, peaking in August in the endemic Mediterranean areas (Italy, Portugal, Spain, and Cyprus). Infection diagnosis is carried out by molecular assays and immunoenzymatic tests, which are rapid and sensitive. Recent studies have investigated the antigenic properties of the viral proteins (nucleoprotein N and surface glycoproteins G1 and G2), to better understand their immunogentic role.

Animals↗

Presence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.

Phylogenetic analysis of the gp41 region of 123 HIV-1-seropositive specimens from Cameroon showed that 89 were subtype A (71% of these sequences were IbNg-like), 12 (10%) were subtype D, 11 (9%) were subtype G, 5 (4%; closely related to subtype F2) were subtype F, 1 was subtype H, 2 (1.6%) remained unclassifiable, while 3 were group O. Further analysis of the two unclassifiable specimens in gag(p24), pol(prot), and env (C2V3 or gp41) showed that one (98CM19) was a complex mosaic between subtype A in p24 and subtype J prot, and unclassifiable in env (C2V3 or gp41). The second, 98CM63, clustered distinctly from all known subtypes in p24, prot, C2V3, or gp41. 98CM63 clustered with a specimen from Cyprus and these two geographically and epidemiologically unlinked specimens, with their distinct clustering pattern, may represent a new subcluster of subtype A. In conclusion, these findings confirm the high HIV-1 genetic variability and further suggest the continuous appearance of new viral strains in this population.

Amino Acid Sequence↗

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).

Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for approximately 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic changes, and the age of onset, which is 10-15 years later for the ADPKD2 form. In Cyprus there are at least three large families, documented by molecular linkage analysis, that map to the PKD2 locus. For two of them the defects were recently shown to be nonsense mutations at positions arginine 742 and glutamine 405. In this report, we describe the mutation in the third family, CY1602. For this, the entire coding sequence was systematically screened by single strand conformation analysis and heteroduplex formation. A novel mutation was identified in exon 2 where a new cytosine residue was inserted immediately after codon 231 (231insC). It causes a translation frameshift and is expected to lead to the introduction of 37 novel amino acids before the translation reaches a new STOP codon. It is the most amino terminal mutation reported to date, and based on the protein's modeled structure, is predicted to be within the first transmembrane domain. It is the fourth PKD2 mutation reported thus far, and the first which is not a nonsense mutation.

Cytosine↗

Ciprofloxacin resistance in Campylobacter jejuni: case-case analysis as a tool for elucidating risks at home and abroad.

OBJECTIVE: To determine factors independently associated with the acquisition of a ciprofloxacin-resistant Campylobacter jejuni infection. METHODS: Self-completion questionnaires were used to collect clinical, demographic and exposure data from cases of campylobacter infection reported to a sentinel surveillance scheme in England and Wales. Isolates from those cases were referred to the Public Health Laboratory Service Campylobacter Reference Unit for speciation, subtyping and antimicrobial resistance testing. Cases infected with a ciprofloxacin-resistant C. jejuni were compared with cases infected with a sensitive strain using case-case analysis. Single risk variable analysis and logistic regression analysis were employed. The analysis was restricted by travel status to control for the confounding effect of foreign travel. RESULTS AND CONCLUSION: Over half (55%) of the campylobacter infections acquired abroad were resistant to ciprofloxacin, compared with 10% of UK-acquired strains [relative risk 5.23; 95% confidence interval (CI) 4.58-5.96]. For travel-associated cases, ciprofloxacin-resistant infections were independently associated with travel to Spain [odds ratio (OR) 6.87; 95% CI 3.52-13.38], Portugal (OR 22.40; 95% CI 4.36-114.99) or Cyprus (OR 11.74; 95% CI 1.28-108.02), and the consumption of chicken (OR 4.95; 95% CI 2.12-11.56) or bottled water (OR 3.70; 95% CI 1.69-8.10). Indigenous cases infected with a ciprofloxacin-resistant strain were more likely to report the consumption of pre-cooked cold meats (OR 2.13; 95% CI 1.44-3.13). The risk of acquiring a ciprofloxacin-resistant campylobacter infection was strongly associated with foreign travel. Restricting the analyses by travel status revealed different sets of risk exposures for acquiring a resistant C. jejuni strain, suggesting that different intervention strategies will be required.

Adult↗

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.

BACKGROUND: Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single disease complex (NPH-MCD). However, since the recent localization of two genes responsible for ADMCKD, namely MCKD1 and MCKD2, ADMCKD has gained independent status. Unfortunately, there appears to be a distinct lack of up-to-date information in the currently available medical literature concerning worldwide patient and graft survival after renal transplantation in ADMCKD. This report is based on all 41 transplanted patients [19 suffering from autosomal dominant medullary cystic kidney disease type 1 (ADMCKD1) and 22 from other causes] who were referred for kidney transplantation from our centre in Pafos, Cyprus between 1976 and 2000. All patients had regular follow-up examinations. This report aims to present the results of kidney transplantation of the 19 ADMCKD1 patients and to compare them with those for the 22 non-ADMCKD patients. METHODS: Patient and graft survival times in both groups were recorded, analysed and compared 1 and 5 years post-transplant. Patient and graft survival times were calculated according to the Kaplan-Meier method and some descriptive statistical comparisons were based on the chi(2)-test. RESULTS: The 1 year patient and graft survival rates for ADMCKD1 (group A) were 100%, while the 5 year figures were 100% and 90%, respectively. For non-ADMCKD1 patients (group B) the 1 year figures were 95% for both parameters, while the 5 year figures were 93.3% for both parameters. There were no statistically significant differences in patient and graft survival times between the two groups. CONCLUSIONS: Kidney transplantation is the treatment of choice for patients suffering from ADMCKD, with an excellent outcome and no specific complications.

Adult↗

Drought effects on hydraulic conductivity and xylem vulnerability to embolism in diverse species and provenances of Mediterranean cedars.

We studied hydraulic traits of young plants of the Mediterranean cedar species Cedrus atlantica (Endl.) G. Manetti ex Carrière (Luberon, France), C. brevifolia (Hook. f.) Henry (Cyprus), C. libani A. Rich (Hadeth El Jebbe, Lebanon) and C. libani (Armut Alani, Turkey). With an optimum water supply, no major differences were observed among species or provenances in either stem hydraulic conductivity (Ks) or leaf specific conductivity (Kl) measured on the main shoot. A moderate soil drought applied for 10 weeks induced marked acclimation through a reduction in Ks, particularly in the Lebanese provenance of C. libani, and a decrease in tracheid lumen size in all species. Cedrus atlantica, which had the smallest tracheids, was the species most vulnerable to embolism: a 50% loss in hydraulic conductivity (PsiPLC50) occurred at a water potential of -4.4 MPa in the well-watered treatment, and at -6.0 MPa in the moderate drought treatment. In the other species, PsiPLC50 was unaffected by moderate soil drought, and only declined sharply at water potentials between -6.4 and -7.5 MPa in both irrigation treatments. During severe drought, Ks of twigs and stomatal conductance (g(s)) were measured simultaneously as leaf water potential declined. For all species, lower vulnerability to embolism based on loss of Ks was recorded on current-year twigs. The threshold for stomatal closure (10% of maximum g(s)) was reached at a predawn water potential (Psi(pd)) of -2.5 MPa in C. atlantica (Luberon) and at -3.1 MPa in C. libani (Lebanon), whereas the other provenance and species had intermediate Psi(pd) values. Cedrus brevifolia, with a Psi(pd) (-3.0 MPa) close to that of C. libani (Lebanon), had the highest stomatal conductance of the study species. The importance of a margin of safety between water potential causing stomatal closure and that causing xylem embolism induction is discussed.

Cedrus↗

Ancient DNA forces reconsideration of evolutionary history of Mediterranean pygmy elephantids.

During the Pleistocene pygmy elephantids, some only a quarter of their ancestors' size, were present on Mediterranean islands until about 10,000 years ago (y.a.). Using a new methodology for ancient DNA (aDNA) studies, the whole genomic multiple displacement amplification method, we were able to retrieve cytochrome b (cytb) DNA fragments from 4200 to 800,000 y.a. specimens from island and mainland samples, including pygmy and normal-sized forms. The short DNA sequence (43 bp) retrieved from the 800,000 y.a. sample is one of the oldest DNA fragment ever retrieved. Duplication of the experiments in two laboratories, the occurrence of three diagnostic sites and the results of the phylogenetic analyses strongly support its authenticity. Our results challenge the prevailing view that pygmy elephantids of the eastern Mediterranean originated exclusively from Elephas, suggesting independent histories of dwarfism and the presence of both pygmy mammoths and elephant-like taxa on these islands. Based on our molecular data, the origin of the Tilos and Cyprus elephantids from a lineage within the genus Elephas is confirmed, while the DNA sequence from the Cretan sample falls clearly within the mammoth clade. Thus, the name Mammuthus creticus rather than Elephas creticus, seems to be justified for this form. Our findings also suggest a need to re-evaluate the evolutionary history of the Sicilian/Maltese species, traditionally included in the genus Elephas.

Animals↗

Trophic status drives interannual variability in nesting numbers of marine turtles.

Large annual fluctuations are seen in breeding numbers in many populations of non-annual breeders. We examined the interannual variation in nesting numbers of populations of green (Chelonia mydas) (n = 16 populations), loggerhead (Caretta caretta) (n = 10 populations), leatherback (Dermochelys coriacea) (n = 9 populations) and hawksbill turtles (Eretmochelys imbricata) (n = 10 populations). Interannual variation was greatest in the green turtle. When comparing green and loggerhead turtles nesting in Cyprus we found that green turtles were more likely to change the interval between laying seasons and showed greater variation in the number of clutches laid in a season. We suggest that these differences are driven by the varying trophic statuses of the different species. Green turtles are herbivorous, feeding on sea grasses and macro-algae, and this primary production will be more tightly coupled with prevailing environmental conditions than the carnivorous diet of the loggerhead turtle.

Animals↗

The molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.

At present isolates of Hop stunt viroid (HSVd) are divided into five groups: three major groups (plum-type, hop-type and citrus-type) each containing isolates from only a limited number of isolation hosts and two minor groups that were presumed to derive from recombination events between members of the main groups. In this work we present the characterization of 16 new sequence variants of HSVd obtained from four Mediterranean countries (Cyprus, Greece, Morocco and Turkey) where this viroid had not previously been described. Molecular variability comparisons considering the totality of the sequence variants characterized so far revealed that most of the variability is found in the pathogenic and variable domains of the viroid molecule whereas both the terminal right (T(R)) and left (T(L)) domains are regions of low or no variability, respectively, suggesting the existence of constraints limiting the heterogeneity of the sequence variants. Phylogenetic analyses revealed that sequence variants belonging to the two minor recombinant subgroups are more frequent than previously thought. When the cruciform structure alternative to the typical rod-like conformation was considered it was observed that the upper part of this structure (hairpin I) was strictly conserved whereas in the lower part a reduced variability was found. The existence of a covariation in this lower part was notable. Interestingly, a hammerhead-like sequence was found within the T(R) domain of HSVd and it was strictly conserved in all the sequence variants. The evolutionary implications of the presence of this motif on the HSVd are discussed.

Base Sequence↗

Esterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.

Culex pipiens mosquitos from Lignano city, Udine province, northeast Italy, were found to carry over-produced non-specific esterases A1, A2-B2 and A4-B4 or A5-B5, detected by starch gel electrophoresis, giving multiple resistance to organophosphorus insecticides. In order to differentiate between A4-B4 and A5-B5 esterases, the latter known only from Cyprus whereas the former is widespread in Italy and elsewhere, restriction fragment length polymorphism (RFLP) analysis was performed at the esterase B locus. Both B4 and B5 haplotypes were found. This is the first record of A5-B5 esterase-mediated resistance in continental Europe.

Animals↗

Promotion of children's early psychosocial development through primary health care services.

The paper presents the study design of the development and organisation of an EU/WHO multicentre study on the promotion of children's early psychosocial development through primary health care services. The aim of the programme is to develop training for primary health care workers (PHCWs) that improves their ability to assess factors relevant to psychosocial development and gives them preventive approaches to foster that development, building on families' strengths. The focus is on the period from conception to the end of the second year of the child's' life. Two main components are the training of the PHCWs and the semi-structured interviews that guide the workers in practice. The training has content and structure that is feasible within primary health care resources working in collaboration with mental health services. The programme is evaluated in terms of (a) the impact of training on both the PHCWs' knowledge and attitudes with regard to infant behaviour and development, and on practice as assessed by the delivery of the semi-structured interview; and (b) the effect of the intervention on maternal well-being, infant language development and behavior, home environment and mother-infant interaction. The programme is taking place in Cyprus, Greece, the Federal Republic of Yugoslavia, Portugal, Slovenia and Turkey.

Child Development↗

Multiple sclerosis in Gijon health district, Asturias, northern Spain.

The objective of this study was to ascertain the prevalence and incidence of Multiple Sclerosis (MS) in a population of 33,775 in two primary health care centres in the sanitary district of Gijon, Asturias, northern Spain. Many information sources were used but the unique advantage of Gijon was that the city has a centralized computerized register of all diagnoses made for all consultations in the clinics and hospitals in the area. The HLA distribution in the population was already known and the Poser classification of MS was used. The crude MS prevalence was 65/100,000, a similar prevalence to that found in southern and eastern Spain, Sicily and Greek-speaking Cyprus. The mean incidence was 3.7/100,000 per year. The study demonstrated the advantage of a centralized and computerized medical recording system and demonstrates that northern Spain is a moderately high or medium MS risk zone.

Adolescent↗

Multiple sclerosis in Móstoles, central Spain.

OBJECTIVES: Until relatively recently southern Europe was regarded as having a medium to low multiple sclerosis prevalence, of about 20 or less per 100,000. However, recent studies in Sardinia, Sicily, continental Italy, Cyprus and Spain have yielded higher MS prevalence rates, between 32 and 102.6 per 100,000. We present the results of a prevalence study of MS in the municipality of M6stoles, central Spain. MATERIAL AND METHODS: To ascertain the prevalence of multiple sclerosis in M6stoles (195,979 inhabitants), an intensive study was undertaken using several sources of information. We used the Poser criteria in diagnosis. RESULTS: There were 85 patients (53 women and 32 men) classified as definite or probable, prevalence 43.4/100,000 (95% CI, 34.7 to 53.7). The incidence rate was 3.8/100,000/year (95% CI, 2.7 to 5.3) in the last 5 years. Mean age on prevalence day was 38.8+/-10.9 years. Mean age at onset was 31.7+/-9.3 years. Mean interval between initial symptoms and diagnosis was 1.7 years. Mean duration of disease was 7.6+/-6.1 years. Overall, 70.6% had a relapsing-remitting course, 18.8% had a primary progressive and 10.5% had a secondary progressive. Mean EDSS score was 2.7+/-1.9. CONCLUSION: The M6stoles study confirms the conclusions of previous smaller population studies that Spain is a moderately high or medium MS risk zone.

Adolescent↗

Health effects of tremolite. Now and in the future.

Although tremolite asbestos has been well characterized since 1916, appreciation of its role in disease induction is relatively recent. It has always been understood that the morphology of tremolite is complex, and part of the slowness in recognizing it as a hazard has been definitional in nature. Reduced to simple terms the questions are, when is tremolite "asbestos-like," when is it an innocuous amorphous particle, do these forms occur together, with what confidence can they be separated for regulatory purposes, and what is the spectrum of disease potential for varying exposure? A brake on regulation is partially due to a convergence of opinion of unlikely and unintentional allies: industries producing tremolite-containing materials and some epidemiologists resisting attribution of risk to tremolite on the grounds that its known effects--pleural plaques, asbestosis, lung cancer and mesothelioma--are principally due to chrysotile, which is often contaminated with fibrous tremolite. The latter group concentrate their skepticism on internal-dose biomarker studies associating lung tremolite content with mesothelioma (but not so clearly with lung cancer or asbestosis). They ignore the basic carcinogenic quality of fibrous tremolite, shown in both animal and epidemiological studies. Evidence from the Quebec chrysotile/tremolite mining districts suggests that very low concentrations of tremolite in ambient air can be translated into high concentrations in lung, even in those without occupational exposure. Disease incidence, especially for mesothelioma, seems also to be associated with tremolite air and lung content. The risk associated with tremolite has been demonstrated in Corsica, Cyprus, the United States, and Canada. Of particular importance is an apparent increase in the proportion of mesothelioma risk attributable to tremolite, since the fibers heretofore most responsible for that disease--commercial amphiboles--have been or are being severely regulated or completely eliminated in production and use. Further, amosite and crocidolite, while still a concern, form a small fraction of "asbestos-in-place": most of this material is chrysotile and we do not really know to what degree it is contaminated with tremolite. The available evidence suggests that bulk analysis or airborne fiber analysis will not answer this question, and perhaps only animal bioaccumulation assay is sufficient. Until we know more, it seems prudent for public health to avoid dispersing chrysotile/tremolite into the environment, and, where we can, to regulate all tremolite "fibers" conservatively.

Animals↗

Nutrition and the global risk for chronic diseases: the INTERHEALTH nutrition initiative. The INTERHEALTH Steering Committee.

As chronic, noncommunicable diseases (NCDs) have emerged as leading causes of morbidity and mortality worldwide, the World Health Organization's INTERHEALTH Programme, an international collaboration currently involving 15 countries, has focused its attention on population-based NCD prevention. Participating nations include Australia, Chile, China, Cuba, Cyprus, Finland, Japan, Lithuania, Malta, Mauritius, Russia, Sri Lanka, Tanzania, Thailand, and the United States. This paper will review and assess global trends in food and nutrient intake among INTERHEALTH countries between 1954 and 1986.

Chronic Disease↗