• X inactivation in females with X-linked Charcot-Marie-Tooth disease.

      Murphy, Sinéad M; Ovens, Richard; Polke, James; Siskind, Carly E; Laurà, Matilde; Bull, Karen; Ramdharry, Gita; Houlden, Henry; Murphy, Raymond P J; Shy, Michael E; et al. (Neuromuscular disorders : NMD, 2012-07)
      X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.
    • Young, Male and Feeling Suicidal in Ireland: Is Help or Harm Just One Click Away?

      Gilhooley, J; Bolger, M; Charles, A; Cleary, E; Lane, A; Malone, K (Irish Medical Journal, 2015-12)
      Reports suggest an association between internet use and the elevated risk of suicide and self harm. 1 This study examined the resources a suicidal person might find when searching the internet ’front page’ for help. Voluntary suicide help websites accounted for 7/12 front page hits. The National Suicide Research Foundation (NSRF) and the National Office for Suicide Prevention (NOSP), a blog and a newspaper article made up the remainder. Sites were difficult to navigate and highly variable in content. Phone credit was required in many cases in order to contact helplines; opening hours and locations were limited. Most statutory websites referred help-seekers to the voluntary sector, mainly the Samaritans. Information on fundraising and volunteering competed with other sources of help. Of concern, the front page also included links to methods to complete suicide. Irish professional medical bodies offered very limited advice. Our findings suggest that online information is variable and potentially harmful. There is an opportunity for all agencies and providers to generate a co-ordinated internet front page tailored for at-risk groups
    • 'YouTube': a useful tool for reminiscence therapy in dementia?

      O'Rourke, Julia; Tobin, Fiona; O'Callaghan, Susan; Sowman, Rebecca; Collins, D R; Department of Speech & Language Therapy, Adelaide & Meath Hospital Tallaght, Dublin, Ireland. orourke.julia@gmail.com (2011-11)
    • YouTube: A useful tool for the older generation?

      Collins, DR; Sowman, R; Tobin, F; O'Rourke, J; Liston, R (Geriatric Medicine: Midlife & Beyond, 2010)
    • Zinc status in children with CF

      Roddy, M (2009)
      9th National Cystic Fibrosis Conference, Kilarney