Incidence and occupational pattern of leukaemias, lymphomas, and testicular tumours in western Ireland over an 11 year period. (1/1230)

STUDY OBJECTIVE: To determine incidence of the following malignancies, testicular tumours, all leukaemias and all lymphomas in the West of Ireland in an 11 year period. Secondly, to examine the relation between disease patterns and available occupational data in male subjects of working age. DESIGN: A census survey of all cases occurring in the three counties in the Western Health Board (WHB) area, Galway, Mayo and Roscommon, for the 11 year period 1980 to 1990 inclusive. Average annual age standardised incidence rates for the period were calculated using the 1986 census data. Rates for the area are compared with rates from the southern region of Ireland, which had a tumour registry. Trends over the time period are evaluated. All male subjects for whom occupational data were available were categorised using the Irish socioeconomic group classification and incidence rates by occupation were compared using the standardised incidence ratio method. In one of the counties, Galway, a detailed occupational history of selected cases and an age matched control group was also elicited through patients' general practitioners. SETTING: All available case records in the West of Ireland. RESULTS: There are no national incidence records for the period. Compared with data from the Southern Tumour Registry, the number of cases of women with myeloid leukaemias was significantly lower. Male leukaemia rates were significantly lower as a group (SIR 84 (95% CI 74, 95) but not when considered as individual categories. Regression analysis revealed an increasing trend in the number of new cases of non-Hodgkin's lymphoma among both men (r = 0.47, p = 0.02) and women (r = 0.90, p = 0.0001) and of chronic lymphocytic leukaemia in men (r = 0.77, p = 0.005) and women (r = 0.68 p = 0.02) in the WHB region over the last decade. Four hundred and fifty six male cases over the age of 15 years were identified and adequate occupational information was available for 74% of these. Standardised incidence ratios of testicular tumours 100, 938) and agriworkers other than farmers (SIR 377, 95% CI 103, 967). There were also significantly increased incidence ratios for both non-Hodgkin's lymphoma (SIR 169, 95% CI 124, 266) and three categories of leukaemias among farmers. Hodgkin's disease and acute myeloid leukaemias were significantly increased among semi-skilled people. Interview data with 90 cases and 54 controls of both sexes revealed that among farmers, cases (n = 31) were significantly less likely than controls (n = 20) to use tractor mounted spraying techniques (OR = 0.19 (95% CI 0.04, 0.80)) and less likely to wear protective masks (OR 0.22 (95% CI 0.05, 0.84)). CONCLUSIONS: Trends of increase in non-Hodgkin's lymphoma and some leukaemias are consistent with studies elsewhere. The study provides further evidence of the relation between agricultural work and certain lymphoproliferative cancers. The possible carcinogenic role of chemicals used in agricultural industries must be considered as an explanation.  (+info)

Demographic, clinical and social factors associated with human immunodeficiency virus infection and other sexually transmitted diseases in a cohort of women from the United Kingdom and Ireland. MRC Collaborative Study of women with HIV. (2/1230)

BACKGROUND: Clinical experience suggests many women with HIV infection have experienced no other sexually transmitted diseases (STD). Our objective was to test the hypothesis that a substantial proportion of women with HIV infection in the United Kingdom and Ireland have experienced no other diagnosed STD and to describe the demographic, clinical and social factors associated with the occurrence of other STD in a cohort of HIV infected women. METHOD: Analysis of cross-sectional baseline data from a prospective study of 505 women with diagnosed HIV infection. The setting was 15 HIV treatment centres in the United Kingdom and Ireland. The main outcome measures were occurrence of other STD diagnosed for the first time before and after HIV diagnosis. Data were obtained from interview with women and clinic notes. We particularly focused on occurrence of gonorrhoea, chlamydia and trichomoniasis after HIV diagnosis, as these are the STD most likely to reflect recent unprotected sexual intercourse. RESULTS: The women were mainly infected via heterosexual sex (n = 304), and injection drug use (n = 174). 151 were black Africans. A total of 250 (49.5%) women reported never having been diagnosed with an STD apart from HIV, 255 (50.5%) women had ever experienced an STD besides HIV, including 109 (21.6%) who had their first other STD diagnosed after HIV. Twenty-five (5%) women reported having had chlamydia, gonorrhoea or trichomoniasis diagnosed for the first time after HIV diagnosis, possibly reflecting unprotected sexual intercourse since HIV diagnosis. In all 301 (60%) women reported having had sex with a man in the 6 months prior to entry to the study. Of these, 168 (58%) reported using condoms 'always', 66(23%) 'sometimes' and 56 (19%) 'never'. CONCLUSIONS: Half the women in this study reported having never experienced any other diagnosed STD besides HIV. However, after HIV diagnosis most women remain sexually active and at least 5% had an STD diagnosed which reflect unprotected sexual intercourse.  (+info)

Stress and morale in general practice: a comparison of two health care systems. (3/1230)

BACKGROUND: Poor morale and high levels of stress among general practitioners (GPs) are causing concern. Little research has previously been carried out to study possible differences in morale and stress between GPs working in two different but geographically similar health care systems. AIM: To compare perceived levels of stress and morale between GPs working in two different health care systems--one having a state monopoly (Northern Ireland) and the other having mixed private and state funding (Republic of Ireland)--and to look for factors that might help explain any differences in stress levels and morale between the two systems. METHOD: Anonymous and confidential questionnaires were sent to all 986 National Health Service (NHS) GPs in Northern Ireland (NI) and a random sample of 900 GPs in the Republic of Ireland (ROI). A common set of core questions on demographic details, partners and work patterns, perceived levels of stress and morale, safety, violence, and complaints were asked. RESULTS: Response rates were high in both areas: 91% in NI and 78% in the ROI. GPs in NI had significantly higher stress levels and significantly lower levels of morale than GPs in the ROI. The NI sample expect matters to get worse over the following year. Doctors in the ROI were more likely to be single handed and to work from two sites. Also, more GPs in ROI had fears for their safety and had been the subject of physical violence, but fewer had received complaints and medico-legal actions than in NI. CONCLUSIONS: A significant proportion of both groups of doctors report feeling highly stressed but GPs in NI appear more unhappy and have a poorer outlook for the future. It is suggested that the structure, management, and expectations of the NHS have taken a severe toll on its GPs, whereas a system in which doctors have less practice support but more control is good for morale.  (+info)

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. (4/1230)

Family ZMK is a large Irish kindred that segregates progressive sensorineural hearing loss and retinitis pigmentosa. The symptoms in the family are almost identical to those observed in Usher syndrome type III. Unlike that in Usher syndrome type III, the inheritance pattern in this family is compatible with dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and >90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, it is notable that no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-->A transversion at position 12258 in the gene encoding the second mitochondrial serine tRNA, MTTS2, was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation probably disrupts the amino acid-acceptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK.  (+info)

The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. (5/1230)

Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of NTD cases (n=271) and families (n=218) to date, establishing that, in Ireland, the "TT" genotype is found in 18.8% of cases versus 8.3% of controls (odds ratio 2.57; confidence interval [CI] 1.48-4.45; P=.0005). The maternal and paternal TT genotypes have intermediate frequencies of 13.8% and 11.9%, respectively, indicating that the predominant MTHFR-related genetic effect acts via the TT genotype of the developing embryo. Analysis of the 218 family triads of mother, father, and affected child with log-linear models supports this interpretation, providing significant evidence that the case TT genotype is associated with NTDs (P=.02) but no evidence of a maternal TT genotypic effect (P=. 83). The log-linear model predicted that the risk of NTDs conferred by the case TT genotype is 1.61 (CI 1.06-2.46), consistent with the paramount importance of the case TT genotype in determining risk. There is no compelling evidence for more than a modest additional risk conferred by a maternal TT genotype. These results favor a biological model of MTHFR-related NTD pathogenesis in which suboptimal maternal folate status imposes biochemical stress on the developing embryo, a stress it is ill-equipped to tolerate if it has a TT genotype.  (+info)

Early medieval cattle remains from a Scandinavian settlement in Dublin: genetic analysis and comparison with extant breeds. (6/1230)

A panel of cattle bones excavated from the 1000-year-old Viking Fishamble Street site in Dublin was assessed for the presence of surviving mitochondrial DNA (mtDNA). Eleven of these bones gave amplifiable mtDNA and a portion of the hypervariable control region was determined for each specimen. A comparative analysis was performed with control region sequences from five extant Nordic and Irish cattle breeds. The medieval population displayed similar levels of mtDNA diversity to modern European breeds. However, a number of novel mtDNA haplotypes were also detected in these bone samples. In addition, the presence of a putative ancestral sequence at high frequency in the medieval population supports an early post-domestication expansion of cattle in Europe.  (+info)

Variation of hepatitis C virus following serial transmission: multiple mechanisms of diversification of the hypervariable region and evidence for convergent genome evolution. (7/1230)

We have studied the evolution of hepatitis C virus (HCV) from a common source following serial transmission from contaminated batches of anti-D immunoglobulin. Six secondary recipients were each infected with virus from identifiable primary recipients of HCV-contaminated anti-D immunoglobulin. Phylogenetic analysis of virus E1/E2 gene sequences [including the hypervariable region (HVR)] and part of NS5B confirmed their common origin, but failed to reproduce the known epidemiological relationships between pairs of viruses, probably because of the frequent occurrence of convergent substitutions at both synonymous and nonsynonymous sites. There was no evidence that the rate at which the HCV genome evolves is affected by transmission events. Three different mechanisms appear to have been involved in generating variation of the hypervariable region; nucleotide substitution, insertion/deletion of nucleotide triplets at the E1/E2 boundary and insertion of a duplicated segment replacing almost the entire HVR. These observations have important implications for the phylogenetic analysis of HCV sequences from epidemiologically linked isolates.  (+info)

Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families. (8/1230)

Congenital nephrotic syndrome of the Finnish type is a rare autosomal recessive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease locus has been mapped recently to chromosome 19q12-q13.1 in Finnish families. This paper describes the clinical features and outcome of 20 patients in Ireland with congenital nephrotic syndrome of the Finnish type who have presented since 1980. Before 1987, all infants died by the age of 3 years. After the introduction of daily intravenous albumin infusion, nutritional support, elective bilateral nephrectomy, and renal transplantation, mortality in the past decade has fallen to 30%, with no deaths in the past five years. Genetic linkage analysis was performed in six families in whom DNA was available and the locus responsible was mapped to the same region on chromosome 19 as in Finnish families, suggesting that Irish families share the same disease locus.  (+info)