Cystic fibrosis mutation frequencies in an Irish population

The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland. Rarer CF mutations were also identified in a selected number of CF patients. In addition, a number of polymorphisms were identified, some of which are reported to be functionally and phenotypically important.     

Validating the Orpington Prognostic Score in an Irish in-patient stroke population

An accurate assessment of stroke severity and the ability to predict prognosis is important for determining rehabilitation needs and long term management of patients after stroke. The Orpington Prognostic Score (OPS) is a clinically derived stroke severity scale that can be used to stratify patients into different severity groups. The aim of this study was to validate the Orpington Prognostic Score (OPS) in an Irish in-patient stroke population. Fifty 'first stroke' patients (21 male, median age 72.5 [range 31-93] years) were assessed within two weeks following stroke onset. Subjects were stratified into mild, moderate and severe groups using previously established cut-offs for the OPS. Outcomes were determined prospectively and compared to initial severity groups. Patients in the severe group had a significantly increased chance of dying (Odds ratio [95%CI] 2.16 [1.72-2.72] and this persisted after adjustment for age and gender. Length of stay increased significantly with increasing stroke severity group (F ratio 7.0 p=0.0025) and this association remained after adjusting for age and gender. The odds of being discharged home or of being able to walk independently by time of discharge decreased significantly (all p<0.001) as stroke severity increased and adjusting for age and gender did not alter these associations. A higher OPS score within 2 weeks of stroke onset was significantly associated with longer length of stay, increased mortality, reduced mobility at discharge and a reduced likelihood of discharge home. The OPS is a valid measure of stroke severity in Irish stroke in-patients.     

Study of age-association with cytokine gene polymorphisms in an aged Irish population

The release of cytokines is of crucial importance in the regulation of the type and magnitude of the immune response in the elderly. A number of studies have shown different levels of cytokine production in the elderly. In the present study, a range of polymorphisms were chosen within the genes of cytokines (IL-2, IL-6, IL-8, IL-10, IL-12 and IFN-gamma) that have been observed at different levels within the elderly and analysed for age-association. No association was observed for the polymorphic cytokine markers and the healthy aged Irish population (or with respect to gender) examined in this study. These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.     

Suicide in a rural Irish population

As part of a general survey of psychiatric morbidity in a newly created community based rural psychiatric service, data was collected on suicide from the relevant Coroners for the year January 1989-December 1989. A total of 11 suicides were discovered for a population of 60,735 giving a suicide rate of 18.04/100,000. The official figure for the same period is 252 deaths due to suicide or 7.1/100,000. The implications of these findings are discussed.     

Human papillomavirus prevalence and genotypes in an opportunistically screened Irish female population

This study aims to evaluate human papillomavirus (HPV) prevalence and predominating genotypes in liquid-based cervical cytology samples from an Irish urban female population. In addition to use of routine cervical cytology testing, women are screened for HPV using the MY09/11 primers for the HPV L1 gene and primers for beta-globin amplification in a multiplex format. Overall, 996 women between the ages of 16 and 72 years (average age: 35) are included in the study and HPV prevalence was 19.8%. Cytology results showed that 88.9% were normal, 9% borderline or mild dyskaryosis, 1.1% moderate dyskaryosis and 0.9% severe dyskaryosis. Human papillomavirus prevalence in women under 25 was 31%, reducing to 23% in women in the 25-35 age group and to 11% in women over 35. Human papillomavirus prevalence increased with grade of cytology from 11.4% (normal) through 85.4% (borderline), 84% (mild), 100% (moderate) to 100% (severe dyskaryosis). HPV 16 (20%) and 18 (12%) were the most common high-risk types detected in the study. Other common high-risk types were (in descending order) HPV 66, 33, 53, 31 and 58. HPV 66 was associated with the detection of borderline abnormalities by cytology. This is the first population-based study of HPV prevalence in the normal healthy cervical screening population in the Republic of Ireland.     

Genetic conditions in the Irish Roma gypsy population

Roma gypsy represent a new Irish ethnic minority population with a distinct cultural and racial heritage. There is a strong Roma tradition of consanguinity, which can increase the likelihood of having a child affected by an autosomal recessive disorder. We describe 6 patients from the Roma community who had presented with 4 different autosomal recessive conditions not previously seen in the Irish population, Chronic Granulomatous Disease, HMSN-Russe, and two multiple malformation syndromes.     

Antibiotic resistant tuberculosis and bovine tuberculosis in an Irish hospital population (1991 to 2001)

Of 864 consecutive culture positive cases of tuberculosis (TB) treated in the period 1991-2001, a total of 19 (2.1%) were M. bovis and 32 (3.7%) were drug resistant - Multi-Drug Resistant Tuberculosis (MDR-TB) (8); poly drug resistant (7); mono drug resistant (17). Iatrogenic factors were important in the cause of resistance in 9 cases (4 cases of MDR-TB): in 6 cases patients factors were important. Comparison with previous report for the period 1982-1985 showed relatively more isolates of M. bovis (p = 0.02); drug resistant TB (p = 0.005); and MDR-TB (p = 0.01) in the current study. Comparison with the background population of TB patients showed that patients with resistant TB were more likely to have a previous history of TB (Relative Risk = 3.58) and more likely to be foreign nationals (Relative Risk = 1.93) We conclude that while overall incidence of TB has declined that in relative terms the caseload of drug resistant TB and MDR-TB has increased. The drug cost of treating MDR-TB may be as high as 44,900 euros per patient.     

H1N1 influenza in an Irish population: patterns of chest radiograph abnormality in patients testing positive

The winter of 2010/2011 saw a second peak in the number of H1N1 cases detected in Ireland. The purpose of this study was to investigate the radiological characteristics of patients diagnosed during this period. A retrospective analysis of these cases was performed. Chest radiographs were classified as normal or abnormal. A total of 37 patients were included. Of these, 22 (59%) of chest radiographs were abnormal and 15 (41%) were normal. In the 7 paediatric patients, 4 (57%) had a perihilar distribution of disease, 2 (28%) had peripherally based disease with 1 (14%) having a mixed distribution. A series of radiographs was available for 9 patients, 6 of these showed a radiographic deterioration from the initial study. The majority of chest radiographs of patients with confirmed H1N1 infection will be abnormal. In children, disease is more likely to be perihilar in distribution. Chest radiography is an important initial investigation in patients with H1N1 infection and is useful to track progression of disease in the subset of patients requiring hospitalization for severe disease.     

HLA Antigen Frequencies in an Irish Population

Two-hundred-and-fifty-three unrelated Irish adults were typed for 24 alleles at the HLA-A and B loci. A high frequency of HLA-B8 (34.8%) was observed compared with results published for other populations. Results of other gene frequencies, haplotype frequencies and linkage disequilibrium values were similar to those of Caucasian population studies. Close similarity of HLA polymorphism distribution was seen in relation to another relatively homogeneous Celtic population from the islands of the Outer Hebrides, off the coast of Scotland.     

Linkage analysis of X linked retinitis pigmentosa in the Irish population.

There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.