• Cancer screening in women with intellectual disabilities: An Irish perspective

      Reidy, M.; Denieffe, S.; Foran, S.; Waterford Institute of Technology (Sage, 2014-03)
    • Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis

      Zhang, X; Dineen, T; Flanagan, J; Kovacs, A; O’Driscoll, A; O’Callaghan, J; Mihart, R; Geisler, M; Wiegandt, P; Waterstone, J (Irish Medical Journal, 2014-09)
    • Computational approach for calculating the probability of eukaryotic translation initiation from ribo-seq data that takes into account leaky scanning

      Michel, Audrey M; Andreev, Dmitry E; Baranov, Pavel V (2014-11-21)
      Abstract Background Ribosome profiling (ribo-seq) provides experimental data on the density of elongating or initiating ribosomes at the whole transcriptome level that can be potentially used for estimating absolute levels of translation initiation at individual Translation Initiation Sites (TISs). These absolute levels depend on the mutual organisation of TISs within individual mRNAs. For example, according to the leaky scanning model of translation initiation in eukaryotes, a strong TIS downstream of another strong TIS is unlikely to be productive, since only a few scanning ribosomes would be able to reach the downstream TIS. In order to understand the dependence of translation initiation efficiency on the surrounding nucleotide context, it is important to estimate the strength of TISs independently of their mutual organisation, i.e. to estimate with what probability a ribosome would initiate at a particular TIS. Results We designed a simple computational approach for estimating the probabilities of ribosomes initiating at individual start codons using ribosome profiling data. The method is based on the widely accepted leaky scanning model of translation initiation in eukaryotes which postulates that scanning ribosomes may skip a start codon if the initiation context is unfavourable and continue on scanning. We tested our approach on three independent ribo-seq datasets obtained in mammalian cultured cells. Conclusions Our results suggested that the method successfully discriminates between weak and strong TISs and that the majority of numerous non-AUG TISs reported recently are very weak. Therefore the high frequency of non-AUG TISs observed in ribosome profiling experiments is due to their proximity to mRNA 5′-ends rather than their strength. Detectable translation initiation at non-AUG codons downstream of AUG codons is comparatively infrequent. The leaky scanning method will be useful for the characterization of differences in start codon selection between tissues, developmental stages and in response to stress conditions.
    • Current practice in the referral of individuals with suspected dementia for neuroimaging by general practitioners in Ireland and Wales

      Ciblis, Aurelia S.; Butler, Marie-Louise; Quinn, Catherine; Clare, Linda; Bokde, Arun L. W.; Mullins, Paul G.; McNulty, Jonathan P. (2016-03-23)
    • Cylindroma of the breast: a case report and review of the literature

      Mahmoud, Amr; Hill, David H; O'Sullivan, Martin J; Bennett, Michael W (2009-09-02)
      Abstract Cylindroma of the breast is a very rare lesion which is morphological and immunophenotypically identical to benign dermal cylindroma. We report a breast cylindroma in a previously healthy 62 year old female detected through a national breast screening program. The patient had no significant family or past medical history, and specifically no history of breast or skin diseases. The tumor consisted of well circumscribed islands of epithelial cells surrounded by a dense membrane material, and focally containing hyaline globules. At low power the islands of tumour cells formed a "jig-saw" pattern, which is typical of cylindroma, but was present within normal breast parenchyma and no had direct connection with the overlying skin. Two distinct cell populations, smaller peripheral basaloid cells and larger central cells with vesicular chromatin, were highlighted by immunohistochemistry for p63 and cytokeratin-7 respectively. Immunohistochemistry for ER, PR, and Her2/neu was negative in tumour cells. We discuss the nine previously reported cases and the distinction of breast cylindroma from adenoid cystic carcinoma, the main differential diagnosis.
    • An example of ideal utilisation of specialist services by primary care: cervical check

      Crowley, J; O Morain, C; McGillicuddy, E; Kennelly, P (Irish Medical Journal, 2014-05)
    • Feasibility of alcohol screening among patients receiving opioid treatment in primary care

      Henihan, Anne M; McCombe, Geoff; Klimas, Jan; Swan, Davina; Leahy, Dorothy; Anderson, Rolande; Bury, Gerard; Dunne, Colum P; Keenan, Eamon; Lambert, John S; et al. (2016-11-05)
      Abstract Background Identifying and treating problem alcohol use among people who also use illicit drugs is a challenge. Primary care is well placed to address this challenge but there are several barriers which may prevent this occurring. The objective of this study was to determine if a complex intervention designed to support screening and brief intervention for problem alcohol use among people receiving opioid agonist treatment is feasible and acceptable to healthcare providers and their patients in a primary care setting. Methods A randomised, controlled, pre-and-post design measured feasibility and acceptability of alcohol screening based on recruitment and retention rates among patients and practices. Efficacy was measured by screening and brief intervention rates and the proportion of patients with problem alcohol use. Results Of 149 practices that were invited, 19 (12.8 %) agreed to participate. At follow up, 13 (81.3 %) practices with 81 (62.8 %) patients were retained. Alcohol screening rates in the intervention group were higher at follow up than in the control group (53 % versus 26 %) as were brief intervention rates (47 % versus 19 %). Four (18 %) people reduced their problem drinking (measured by AUDIT-C), compared to two (7 %) in the control group. Conclusions Alcohol screening among people receiving opioid agonist treatment in primary care seems feasible. A definitive trial is needed. Such a trial would require over sampling and greater support for participating practices to allow for challenges in recruitment of patients and practices.
    • Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: comparisons with schizophrenia.

      Hennessy, Robin J; Baldwin, Patrizia A; Browne, David J; Kinsella, Anthony; Waddington, John L; Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, St. Stephen's Green, Dublin 2, Ireland. (2010-09)
      Any developmental relationship between bipolar disorder and schizophrenia engenders continuing debate. As the brain and face emerge in embryological intimacy, brain dysmorphogenesis is accompanied by facial dysmorphogenesis. 3D laser surface imaging was used to capture the facial surface of 13 male and 14 female patients with bipolar disorder in comparison with 61 male and 75 female control subjects and with 37 male and 32 female patients with schizophrenia. Surface images were analysed using geometric morphometrics and 3D visualisations to identify domains of facial shape that distinguish bipolar patients from controls and bipolar patients from those with schizophrenia. Both male and female bipolar patients evidenced significant facial dysmorphology: common to male and female patients was overall facial widening, increased width of nose, narrowing of mouth and upward displacement of the chin; dysmorphology differed between male and female patients for nose length, lip thickness and tragion height. There were few morphological differences in comparison with schizophrenia patients. That dysmorphology of the frontonasal prominences and related facial regions in bipolar disorder is more similar to than different from that found in schizophrenia indicates some common dysmorphogenesis. Bipolar disorder and schizophrenia might reflect similar insult(s) acting over slightly differing time-frames or slightly differing insult(s) acting over a similar time-frame.
    • "If you can't treat HPV, why test for it?" Women's attitudes to the changing face of cervical cancer prevention: a focus group study

      McRae, Judith; Martin, Cara; O’Leary, John; Sharp, Linda; Irish Cervical Screening Research Consortium (CERVIVA) (2014-05-06)
      Abstract Background The relationship between infection with high-risk strains of human papillomavirus (HPV) and cervical cancer is transforming prevention through HPV vaccination and HPV oncogenic testing. In Ireland, a national cervical cancer screening programme and HPV vaccination were recently launched; HPV testing is currently being integrated into the screening programme. Women’s views on the transformation of cervical cancer prevention have been relatively little investigated. Methods Using qualitative focus groups, we determined women’s knowledge, attitudes towards, and acceptability of cervical cancer screening, HPV oncogenic testing and vaccination of HPV. Fifty nine women, recruited through primary care in Ireland, participated in ten focus groups. A dynamic topic guide was developed from literature reviewed. Women were provided with standardised information about HPV infection, HPV testing. Discussion transcripts were analysed thematically. Results The primary themes that emerged regarding HPV infection were: knowledge, emotional response and societal influences; especially those of healthcare practitioners. Knowledge, logistics, and psychological impact were the primary themes relating to HPV testing. Women’s attitudes towards HPV testing changed during discussion as issues were explored, thus demonstrating the complexity of this issue; lack of existing treatment for HPV infection influenced women’s attitudes, attachment to existing cervical cancer screening also was a significant factor. Conclusions Women currently have a strong attachment to cytology and any changes towards HPV primary testing will need to be managed carefully. To ensure that future cervical cancer prevention strategies will be acceptable to women, sufficient thought will have to be given to information provision and education. We identified the importance to women of healthcare practitioners’ opinions regarding HPV. Appropriate and timely information on HPV will be crucial in order to minimise possible psychological effects women may have.
    • Increasing late stage colorectal cancer and rectal cancer mortality demonstrates the need for screening: a population based study in Ireland, 1994-2010

      Clarke, Nicholas; McDevitt, Joseph; Kearney, Patricia M; Sharp, Linda (2014-05-13)
      Abstract Background This paper describes trends in colorectal cancer incidence, survival and mortality from 1994 to 2010 in Ireland prior to the introduction of population-based screening. Methods We examined incidence (National Cancer Registry Ireland (NCRI) and mortality (Central Statistics Office) from 1994 to 2010. Age standardised rates (ASR) for incidence and mortality have been calculated, weighted by the European standard population. Annual percentage change was calculated in addition to testing for linear trends in treatment and case fraction of early and late stage disease. Relative survival was calculated considering deaths from all causes. Results The colorectal cancer ASR was 63.7 per 100,000 in males and 38.7 per 100,000 in females in 2010. There was little change in the ASR over time in either sex, or when colon and rectal cancers were considered separately; however the number of incident cancers increased significantly during 1994-2010 (1752 to 2298). The case fractions of late stage (III/IV) colon and rectal cancers rose significantly over time. One and 5 year relative survival improved for both sexes between the periods 1994-2008. Colorectal cancer mortality ASRs decreased annually from 1994-2009 by 1.8% (95% CI -2.2, -1.4). Rectal cancer mortality ASRs rose annually by 2.4% (95% CI 1.1, 3.6) and 2.8% (95% CI 1.2, 4.4) in males and females respectively. Conclusions Increases in late-stage disease and rectal cancer mortality demonstrate an urgent need for colorectal cancer screening. However, the narrow age range at which screening is initially being rolled-out in Ireland means that the full potential for reductions in late-stage cancers and incidence and mortality are unlikely to be achieved. While it is possible that the observed increase in rectal cancer mortality may be partly an artefact of cause of death misclassification, it could also be explained by variations in treatment and adherence to best practice guidelines; further investigation is warranted.
    • Investigating the Barriers to the Uptake of Diabetic Retina Screen

      Bennett, GH; Tuthill, A (Irish Medical Journal, 2017-10)
    • Minutes of the Meeting of the Steering Group for National Breast Screening Programme

      National Breast Screening Group (National Breast Screening Group, 1997-04)
    • Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

      Boyle, B; Morris, JK; McConkey, R; Garne, E; Loane, M; Addor, MC; Gatt, M; Haeusler, M; Latos-Bielenska, A; Lelong, N; et al. (2014-07-23)
    • Randomized controlled trial comparing telephone and mail follow-up for recruitment of participants into a clinical trial of colorectal cancer screening

      Wong, Arthur D; Kirby, John; Guyatt, Gordon H; Moayyedi, Paul; Vora, Parag; You, John J (2013-02-11)
      Abstract Background Investigators often face challenges when recruiting participants into randomized controlled trials (RCTs). Some data suggest that telephone reminders may lead to greater participant enrollment. Methods Patients aged 50 to 70 years from family practice rosters were initially mailed invitations to participate in an RCT of colorectal cancer screening. Patients who did not respond were randomly allocated to follow-up invitations by either telephone or mail four weeks after the initial invitation. The primary outcome was attendance for eligibility screening with the study nurse. Results After mailing invitations to 1,348 patients, 104 patients were initially enrolled in the RCT of colon cancer screening. Of 952 patients who did not respond to the initial mailed invitation, we randomly allocated 480 to follow-up invitation by telephone and 472 to follow-up invitation by mail. Attendance for eligibility screening with the study nurse was more frequent when non-responders were followed-up by telephone (84/480, 17.5%) than by mail (43/472, 9.1%) (relative risk (RR) 1.92, 95% confidence interval (CI) 1.36 to 2.71, P < 0.001). Enrollment into the RCT was also greater among patients followed-up by telephone (59/480, 12.3%) compared to those followed-up by mail (35/472, 7.4%) (RR 1.66, 95% CI 1.11 to 2.47, P=0.01). Conclusions Telephone-based follow-up results in greater enrollment compared to a mail-based method. Our findings should be of interest to investigators conducting RCTs, particularly trials of screening interventions involving asymptomatic participants for which volunteer participation may be challenging. Trial registration Clinicaltrials.gov NCT00865527
    • Report from the 'Eccles' breast screening programme Dublin on epidemiological aspects of screening for breast cancer in Ireland

      Codd, Mary B; Eccles Breast Screening Programme (Eccles Breast Screening Programme, 1995-01)
    • The Risk Instrument for Screening in the Community (RISC): a new instrument for predicting risk of adverse outcomes in community dwelling older adults

      O’Caoimh, Rónán; Gao, Yang; Svendrovski, Anton; Healy, Elizabeth; O’Connell, Elizabeth; O’Keeffe, Gabrielle; Cronin, Una; Igras, Estera; O’Herlihy, Eileen; Fitzgerald, Carol; et al. (2015-07-30)
      Abstract Background Predicting risk of adverse healthcare outcomes, among community dwelling older adults, is difficult. The Risk Instrument for Screening in the Community (RISC) is a short (2–5 min), global subjective assessment of risk created to identify patients’ 1-year risk of three outcomes:institutionalisation, hospitalisation and death. Methods We compared the accuracy and predictive ability of the RISC, scored by Public Health Nurses (PHN), to the Clinical Frailty Scale (CFS) in a prospective cohort study of community dwelling older adults (n = 803), in two Irish PHN sectors. The area under the curve (AUC), from receiver operating characteristic curves and binary logistic regression models, with odds ratios (OR), compared the discriminatory characteristics of the RISC and CFS. Results Follow-up data were available for 801 patients. The 1-year incidence of institutionalisation, hospitalisation and death were 10.2, 17.7 and 15.6 % respectively. Patients scored maximum-risk (RISC score 3,4 or 5/5) at baseline had a significantly greater rate of institutionalisation (31.3 and 7.1 %, p < 0.001), hospitalisation (25.4 and 13.2 %, p < 0.001) and death (33.5 and 10.8 %, p < 0.001), than those scored minimum-risk (score 1 or 2/5). The RISC had comparable accuracy for 1-year risk of institutionalisation (AUC of 0.70 versus 0.63), hospitalisation (AUC 0.61 versus 0.55), and death (AUC 0.70 versus 0.67), to the CFS. The RISC significantly added to the predictive accuracy of the regression model for institutionalisation (OR 1.43, p = 0.01), hospitalisation (OR 1.28, p = 0.01), and death (OR 1.58, p = 0.001). Conclusion Follow-up outcomes matched well with baseline risk. The RISC, a short global subjective assessment, demonstrated satisfactory validity compared with the CFS.
    • Sexual health screening: experiences of STI and HIV testing

      Kelleher, Caroline; Royal College of Surgeons In Ireland (Royal College of Surgeons In Ireland, 2013)
    • The smear taking journey: A practice nurse perspective

      Gaffney, Caitriona (Nursing in General Practice, 2015-05)
    • Use of a highly-sensitive cardiac troponin I assay in a screening population for hypertrophic cardiomyopathy: a case-referent study

      McGorrian, Catherine M; Lyster, Sarah; Roy, Andrew; Tarrant, Heloise; Codd, Mary; Doran, Peter; Fitzgibbon, Maria; Galvin, Joseph; Mahon, Niall G (2013-09-11)
      Abstract Background Hypertrophic cardiomyopathy (HCM) is a genetic condition, and relatives of affected persons may be at risk. Cardiac troponin biomarkers have previously been shown to be elevated in HCM. This study examines the new highly-sensitive cardiac troponin I (hsTnI) assay in a HCM screening population. Methods Nested case–control study of consecutive HCM sufferers and their relatives recruited from May 2010 to September 2011. After informed consent, participants provided venous blood samples and clinical and echocardiographic features were recorded. Associations between the natural log (ln) of the contemporary troponin I (cTnI) and hsTnI assays and markers of cardiac hypertrophy were examined. Multiple regression models were fitted to examine the predictive ability of hsTnI for borderline or definite HCM. Results Of 107 patients, 24 had borderline and 19 had definite changes of HCM. Both TnI assays showed significant, positive correlations with measures of cardiac muscle mass. After age and sex adjustment, the area under the receiver operator characteristic (AUROC) curve for the outcome of HCM was 0.78, 95% CI [0.65, 0.90], for ln(hsTnI), and 0.66, 95% CI [0.51, 0.82], for ln(cTnI) (p=0.11). Including the hsTnI assay in a multiple-adjusted “screening” model for HCM resulted in a non-significant improvement in both the AUROC and integrated discrimination index. Conclusions Both cTnI and hsTnI show a graded, positive association with measures of cardiac muscle mass in persons at risk of HCM. Further studies will be required to evaluate the utility of these assays in ECG- and symptom-based identification of HCM in at-risk families.
    • Virtual colonoscopy, optical colonoscopy, or fecal occult blood testing for colorectal cancer screening: results of a pilot randomized controlled trial

      You, John J; Liu, Yudong; Kirby, John; Vora, Parag; Moayyedi, Paul (2015-07-09)
      Abstract Background No head-to-head randomized controlled trials have demonstrated the superiority of one colorectal screening modality over another in reducing colorectal cancer mortality. We conducted a pilot randomized controlled trial of fecal occult blood testing (FOBT), optical colonoscopy (OC), and virtual colonoscopy (VC), to inform the planning of a larger evaluative trial. Methods Eligible patients (aged 50 to 70) were recruited from five primary care practices in Hamilton, ON, Canada, between March 23, 2010 and August 11, 2010, and randomized 1:1:1 in a parallel design using an automated, centralized telephone service to either FOBT, OC, or VC. To reflect conventional practice, patients received no additional reminders to complete their allocated screening test beyond those received in usual practice. The primary outcome was completion of the assigned screening procedure. Results of the index test and any follow-up investigations were ascertained at 6 months. Participants, caregivers, and outcome assessors were not blinded to group assignment. The trial was stopped early due to lack of ongoing funding. Results A total of 198 participants were enrolled, of whom 67 were allocated to FOBT, 66 to OC, and 65 to VC. The allocated screening procedure was completed by 43 (64 %) subjects allocated to FOBT (95 % confidence interval [CI], 52–75 %), 53 (80 %) subjects allocated to OC (95 % CI, 69–88 %), and 50 (77 %) subjects allocated to VC (95 % CI, 65–85 %); because the trial stopped early, we had insufficient statistical power to detect clinically relevant differences in completion rates. During 6 months follow-up, colorectal adenomas were detected in 0 (0 %) subjects allocated to FOBT, 12 (18 %) subjects allocated to OC, and 2 (3 %) subjects allocated to VC. One subject in the OC arm had histological evidence of high-grade dysplasia. No subjects were diagnosed with colorectal cancer. Conclusions In this pilot randomized controlled trial of colorectal cancer screening in a primary care setting, 64–80 % of subjects completed their allocated screening test. These findings may be of value to investigators planning clinical trials to evaluate the effectiveness of colorectal cancer screening. Trial registration ClinicalTrials.gov NCT00865527. https://clinicaltrials.gov/ct2/show/NCT00865527