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PubMed2004

Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations.

Early-onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young-onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early-onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early-onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation-positive patients was 33 +/- 9 years (age range, 18-42 years), marginally lower than that of the 33 parkin-negative early-onset patients, 38 +/- 7 years (age range, 17-45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early-onset parkin-negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin-negative patients. We subsequently identified a single point mutation among the 62 young-onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for approximately 17% of early-onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies.

Adolescent↗

PubMed2006

Bridging Proteomics and Medical Science - the 5th HUPO Brain Proteome Workshop in Dublin, Ireland.

More than 70 interested colleagues attended the 5th Workshop of the HUPO Brain Proteome Project (HUPO BPP) at the UCD Conway Institute, Dublin, Ireland. An overview of the outcome of the pilot study was presented and the new subprojects "Clinical Neuroproteomics of Human Body Fluids" as well as "Cerebellum 2D-mapping" were announced. In addition the election of the HUPO BPP committees and the future directions of this project were discussed and decided. The meeting was enhanced by several talks highlighting the application of proteomics in biomedical research.

Animals↗

PubMed2004

Thromboprophylaxis for radical prostatectomy: a comparative analysis of present practice between the USA, the UK, and Ireland.

BACKGROUND: A clinical dilemma exists in the management of patients undergoing radical prostatectomy (RP) whereby measures taken to reduce the risk of thrombotic events may adversely affect efforts to limit blood loss. No consensus exists in the literature on the ideal management of thromboprophylaxis in these patients. Our aim is to examine and compare current thromboprophylactic policy and practice between the centres involved in performing RP. METHODS: A questionnaire was forwarded to all urology residency programmes in Ireland, the United Kingdom, and the United States, regarding their current practice with respect to thromboprophylaxis in RP. Completed questionnaire were returned by fax and the data entered into a computer database. RESULTS: An overall response rate of 60% was achieved. The questionnaires demonstrated a significant difference in clinical practice between Urologists in the United States and the United Kingdom. Just 24% of American Urologists use pharmacological thromboprophylaxis in contrast to 100% of British Urologists. There was no difference in the use of non-pharmacological thromboprophylaxis. Pharmacological thromboprophylaxis is mainly administered by units, mostly in the United Kingdom, doing fewer radical prostatectomies. CONCLUSIONS: While there have been studies advocating the use of pharmacological thromboprophylaxis in patients undergoing major pelvic surgery, there is no consensus on it is use in urological practice. This study has demonstrated significant differences in the management of thromboprophylaxis between the USA and the UK/Ireland. Units performing the largest number of radical prostatectomies, mostly in the USA, do not use pharmacological thromboprophylaxis and most do not use compression boots.

Anticoagulants↗

PubMed2002

The regulatory system for aquaculture in the Republic of Ireland.

The control of aquaculture in the Republic of Ireland falls under a number of different legislative codes and, consequently, responsibility for the regulation of the industry is divided between a number of ministers and state agencies. The principal responsibility lies with the Minister for the Marine and Natural Resources. The 1997 Fisheries Act was framed to replace an outdated regulatory system with one which would enjoy the confidence of a rapidly expanding industry and of all other relevant interests, in particular by establishing an independent authority for the determination of aquaculture license appeals. Powers in relation to the authorisation and control of medicines are shared between the Minister for Agriculture and the Minister for Health, while local authorities are responsible for planning permission and discharge licenses in respect of land-based facilities.

Animals↗

PubMed1995

The spatial distribution of Borrelia burgdorferi-infected Ixodes ricinus in the Connemara region of County Galway, Ireland.

Studies were carried out in the Connemara area of County Galway in the west of Ireland in order to determine the abundance and distribution of the tick, Ixodes ricinus and the prevalence of its infection with Borrelia burgdorferi. The tick was very abundant locally, in particular when associated with cattle, sheep and enclosed red deer. Large numbers of ticks not only occurred on the pastures, but also on adjacent roadside verges. No infections with B. burgdorferi could be demonstrated when nymphal ticks were sampled from central areas of the pastures, suggesting that livestock and red deer are probably not significant reservoirs of the spirochaete. Small numbers of infected nymphal and adult ticks were associated with hedges, dry stone walls, the margins of woodland adjoining infested pastures and in woodland from which livestock were excluded. Woodmice (Apodemus sylvaticus) were most numerous in such habitats and the majority were infected with B. burgdorferi.

Animals↗

PubMed1995

Emigration and living standards in Ireland since the Famine.

"Ireland experienced dramatic levels of emigration in the century following the Famine of 1845-1849. The paper surveys the recent cliometric literature on post-Famine emigration and its effects on Irish living standards. The conclusions are that the Famine played a significant role in unleashing the subsequent emigration; and that emigration was crucial for the impressive increase in Irish living standards which took place during the next 100 years."

Conservation of Natural Resources↗

PubMed1989

Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland.

Linkage disequilibrium and cystic fibrosis (CF) allele segregation were analysed in 46 CF families in Northern Ireland. The smaller (+) allele of the KM19/PstI polymorphism and the larger (-) allele of the XV-2c/TaqI polymorphism showed marked linkage disequilibrium with CF. This information can be used to alter the risk of an individual being a carrier of CF away from the expected population risk of 1 in 20. The high-risk genotypes K+K+ or X-X- have a risk of 1 in 10 and the low-risk genotypes K-K- or X+X+ have a risk of 1 in 50. A study of the segregation of CF alleles in the 46 families, using KM19 and Xv-2c, showed preferential inheritance of the paternal (79%), as opposed to the maternal (21%), CF allele by the heterozygous carriers. A mechanism that might explain this observation is discussed.

Alleles↗

PubMed1987

Community factors influencing psychiatric hospital utilization in rural and urban Ireland.

The role of community factors in psychiatric hospital utilization in rural and urban Ireland was evaluated using Hollingshead & Redlich's conceptual model. Rural and urban differences in identification of psychiatric disorders, attitude to psychiatric facilities and social isolation were assessed using a community survey (N = 200). No difference was found in the recognition of schizophrenic behavior. Rural residents tended to normalize neurotic behavior and significantly fewer recognized it as deviant. The two communities did not differ in the identification of alcoholism or neuroses as mental illness. Rural individuals had a more negative attitude to psychiatric facilities, and sought help more frequently from relatives who were less accessible than their urban counterparts.

Alcoholism↗

PubMedDate not supplied

Parasuicide and suicide in the south-west of Ireland.

BACKGROUND: Suicidal behaviour has become recognised as a major public health problem. AIM: To examine hospital-treated parasuicide and suicide in the Southern and Mid-Western Health Boards. METHODS: Parasuicide data were derived from independent data collection in general and psychiatric hospitals and prisons between 1995 and 1997. The corresponding suicide data were obtained electronically from the Central Statistics Office. RESULTS: Respectively, the annual person-based male, female and total European age-standardised rates were 128.9, 154.3 and 141.3 per 100,000 for parasuicide compared to 22.7, 5.5 and 14.1 per 100,000 for suicide. The parasuicide/suicide ratio varied markedly by age, gender, area and marital status. The majority of suicides were by hanging or drowning whereas drug overdose made up the vast majority of parasuicide acts. Parasuicide was largely a city phenomenon confined to the young of both genders whereas suicide was a significant problem for city and county men, especially young adult men. CONCLUSION: There are striking differences between the patterns of fatal and non-fatal suicidal behaviour in Ireland, which should be considered in prevention initiatives.

Adolescent↗

PubMedDate not supplied

Management of Barrett's oesophagus in 2001 in Ireland.

BACKGROUND: Endoscopic surveillance of patients with Barrett's oesophagus is recommended to detect early carcinoma. The practice patterns of endoscopists since the publication of more recent management guidelines remain unknown. METHODS: All endoscopists (n=68) in the Irish Medical Directory and their trainees were sent a postal questionnaire on Barrett's surveillance. RESULTS: Fifty-five per cent (30/54) perform surveillance on all patients with Barrett's oesophagus and 38% on selected patients. In patients with no dysplasia, repeat endoscopy was more commonly practiced annually (28/54) than every two to three years (23/54). Surgeons were more likely to perform surveillance annually than gastroenterologists (75% vs 40%). Only 26% of endoscopists took four-quadrant biopsies every 2 cm. Intervention was recommended by a majority (28/54) of endoscopists in a patient with high grade dysplasia. A majority of respondents (47/54) would have surveillance if they were found to have Barrett's oesophagus. CONCLUSION: Most endoscopists in Ireland do not adhere to recent guidelines in their management of Barrett's oesophagus. Surgical endoscopists perform surveillance more frequently than their medical colleagues.

Barrett Esophagus↗

PubMedDate not supplied

Pulmonary cystic hydatid disease in Ireland.

BACKGROUND: Hydatid disease is rare in Ireland and its incidence and prevalence are unknown. Most cases are diagnosed by a combination of clinical findings, morphological features on imaging and by serological testing. AIMS: We describe an Irish case of pulmonary hydatid disease detected at bronchoscopy by bronchoalveolar lavage, and discuss the diagnosis and treatment of the disorder. CONCLUSION: The diagnosis of this rare disease requires a high index of suspicion. Treatment is primarily surgical, with a role for antihelminthic agents.

Adult↗

PubMed1990

A population of MS patients in the west of Ireland.

A five year retrospective study was undertaken involving 87 patients admitted to the University College Hospital, Galway, with a confirmed diagnosis of multiple sclerosis (MS). The aim of this study was to consider aspects of this disease as it affected this population in the West of Ireland. Age, sex, and social characteristics of the population were examined. Disease characteristics studied included its remittent and progressive forms and the degree of disability it caused. Relapses of disease were considered in greater detail. It was found that: 1. The highest percentage of patients with MS was in the 40-45 year age group. 2. The mean age of onset of the disease was 37.7 years. 3. Females were in the majority (female: male ratio of 1.4:1) and most of these suffered from the progressive form of MS. 4. Males tended to experience the larger percentage of relapses and had a lower annual relapse rate than females. 5. Of the social groups investigated, those involved in the industry had the highest reported average annual relapse rate. 6. Motor symptoms played an important part in exacerbations, either alone or in combination with other symptoms. 7. Relapses occurred in a cyclical fashion with peaks over 2-3 months. 8. The number of relapses did not tend to vary throughout the year.

Adult↗

PubMedDate not supplied

Papillary carcinoma in a thyroglossal duct remnant--a review of thyroglossal surgery in a regional centre in the west of Ireland.

A review of thyroglossal duct remnants presenting to a regional centre in the West of Ireland was undertaken. Over a 15 yr period, 25 patients were operated on for duct remnants. The mean age was 19.6 yr and ranged from 3 to 68 yr. There were 16 (64 per cent) males and 9 (36 per cent) females. Seventeen (68 per cent) patients were less than 20 years at the time of surgery. Four patients presented with a sinus and the remainder with a cystic lesion. Two patients experienced recurrent disease. One patient, a 41 yr old female, had a papillary carcinoma of a thyroglossal cyst. There were no clinical features distinguishing this patient from those with benign cystic remnants of the thyroglossal duct. The possibility of carcinoma in older patients, in particular females, presenting with thyroglossal cysts emphasises the importance of performing a formal Sistrunk's operation. It reduces the risk of recurrence of the cyst and may reduce the risk of recurrence of the tumour as the duct may provide a route for the spread of tumour.

Adolescent↗

PubMedDate not supplied

Feasibility of population based screening in Ireland.

Population registers have formed the basis for computerised call/recall registers for screening programmes in many countries and have been important in achieving high uptakes in targeted populations. The absence of a population register for the ECCLES (European Campaign against Cancer, Localisation, Evaluation & Screening) Breast Screening Project necessitated the development of a special register of women in the target age group. The data sources used to build the project register were the Eastern Health Board and North Eastern Health Board General Medical Services database, Voluntary Health Insurance data and self-registration with the project. The register captured 86.3 per cent of the target population. A debate on the merits and difficulties associated with the setting up of a population register in Ireland is now timely.

Breast Neoplasms↗

PubMedDate not supplied

Long-term outcomes of treatment of hyperthyroidism in Ireland.

We investigated the long-term outcome of treatment in 159 patients with hyperthyroidism first seen between 1979 and 1992. Median duration of follow-up was 10 1/2 years. We also inquired into current practice for the follow-up of hyperthyroidism by other endocrinologists in Ireland. Seven cases of unrecognised hyperthyroidism (4 per cent) and one of unrecognised hypothyroidism were identified. Among patients with Graves' disease, of those treated with an antithyroid drug, 28 per cent were in remission, 68 per cent had relapsed and 4 per cent had become hypothyroid. Of those treated by sub-total thyroidectomy, 31 per cent were in remission, 19 per cent had relapsed, 19 per cent were hypothyroid and 31 per cent were sub-clinically hypothyroid. Among patients treated with radioiodine, 19 per cent were euthyroid, 3 per cent were still hyperthyroid and three-quarters had become hypothyroid. In contrast, after radioiodine for toxic nodular goitre, 63 per cent were euthyroid and only 32 per cent had become hypothyroid (Chi Squared v. Graves' disease, P = 0.001). Of 73 patients receiving thyroxine replacement, plasma TSH was normal in only 41 per cent, although 82 per cent of patients had been seen by the family doctor within the previous 12 months. Seven of 17 other endocrinologists undertook long-term follow-up of hyperthyroid patients in their specialist clinics but none was using a computerised system to co-ordinate this. The findings confirm that careful follow-up is required for all hyperthyroid patients. The family doctor is well positioned to undertake this, but education and auditing are required.

Adolescent↗

PubMed1993

Lower prevalence of anti-hepatitis C antibody in dialysis and renal transplant patients in Ireland.

It is well recognised that haemodialysis and renal transplant patients are at increased risk of developing non-A, non-B hepatitis. Recently the genome of hepatitis C virus (HCV), the major causative agent for non-A, non-B hepatitis, has been isolated. Anti-HCV seroprevalence was assessed in all haemodialysis patients (266) in Ireland who in March 1990 had been dialysed for at least 6 months. For comparative purposes, 272 patients who had functioning renal transplants for greater than 6 months were also studied. Potential risk factors such as age, number of blood transfusions and time on dialysis were evaluated. The prevalence of HCV infection as evidenced by antibody detection was only 1.1% for transplant and 1.7% for haemodialysis patients. This compares to a reported incidence of between 10% and 50% found elsewhere. Two of the 5 anti-HCV positive haemodialysis patients and 2 of the 3 transplant patients had biochemical evidence of liver disease. From stored sera it was possible to ascertain when patients acquired HCV. Whether the very low prevalence of anti-HCV in Irish patients is due to the low prevalence of the virus in the general population, the policy of non reimbursement of blood donors, genetic or other factors, remains to be determined.

Adult↗

PubMed1993

Height, body weight, skinfold thickness and endurance fitness of children attending national schools in Ireland.

Height, body weight, the thickness of triceps, biceps, subscapular and supra-iliac skinfolds and the six-minute run-walk test of aerobic endurance were measured on 1163 National school children between the ages of 7 and 13, who were attending rural or urban schools in counties Cork, Galway, Limerick, Mayo, Waterford and Wexford. Height, weight and the sum of triceps and subscapular skinfolds were compared with 11 to 13 year-olds from Northern Ireland, for whom the same data is available. Endurance scores were compared with international norms. Although of the same height as other European children, the subjects were heavier and had higher skinfold thicknesses. Aerobic endurance scores averaged about 80% of international norms.

Adolescent↗

PubMedDate not supplied

Dietary intakes in Ireland of a healthy elderly population.

The aim of this paper is to assess the adequacy of the diet of individuals over 60 yr of age, participating in the 1990 Irish National Nutritional Survey. A nationwide random sample based on the most recently updated electoral register was used. Demographic information was collected. Anthropometric measurements were taken and nutrient intake was assessed using the 7-day dietary history method. The randomly selected sample of 1213 subjects was considered to be representative of the Irish population. Of those selected, 163 individuals were over 60 yr of age, 79 of whom were male and 84 female. Mean energy intakes including alcohol for males and females were 9.55 +/- 3.09MJ and 7.07 +/- 2.39MJ respectively. The main sources of energy were bread, meat and meat products, potatoes and milk. As percentage energy, protein, fat and carbohydrate intakes were 14.90 per cent, 33.97 per cent and 48.22 per cent for men and 15.39 per cent, 34.09 per cent and 49.37 per cent for women respectively. Except for vitamin D and folate, micronutrient intakes were adequate. The body mass index (BMI [weight/height2] kg/m2) for men was 25.6 and for women 26.4. Fewer than 27.8 per cent of the males and 20.2 per cent of females take part in regular physical activity. In conclusion, the diet of a healthy elderly population in Ireland is nutritionally adequate with macronutrient intake in keeping with the recommended guidelines. Overall energy intakes are lower than those of a younger age group and may account for the lower intakes of certain micronutrients. An increase in fruit and vegetable consumption would improve vitamin and mineral intake. In order to allow for a higher energy intake an increase in physical activity is desirable.

Aged↗