• The detection of heterozygous familial hypercholesterolemia in Ireland.

      O'Kane, Maurice J; Menown, Ian B; Graham, Ian; Maher, Vincent; Tomkin, Gerald; Nicholls, Paul; Graham, Colin; Clinical Chemistry Laboratory, Altnagelvin Hospital, Londonderry, Northern Ireland. Maurice.OKane@westerntrust.hscni.net (Advances in therapy, 2012-05)
      Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant condition with a population prevalence of 1 in 500, and is associated with significant cardiovascular morbidity and mortality. It may be caused by mutations in the low-density lipoprotein (LDL) receptor, apolipoprotein B100 (Apo B100), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, with over 1,000 causative mutations described. Statin therapy in HeFH is considered effective and safe. Audit data suggest that approximately 80% of the putative HeFH population remains unidentified and, therefore, there is a need to develop a strategy for the identification of affected individuals so that early lipid-lowering treatment may be offered. There is good evidence showing the effectiveness and acceptability of HeFH screening programs in Europe. The authors describe a protocol for an all island approach to HeFH detection in the Republic of Ireland/Northern Ireland. Index cases will be identified by opportunistic screening using the Simon Broome, or Make Early Diagnosis to Prevent Early Death (MedPed) and World Health Organization (WHO) criteria. Patients identified as "definite," "probable," or "possible" HeFH criteria will be offered genetic testing. The authors expect causative mutations to be identified in approximately 80% of patients with "definite" HeFH but in only approximately 20% of patients with "possible" HeFH. Cascade screening will be undertaken in first-degree relatives of the index case using genetic testing (where a causative mutation has been identified), or otherwise using LDL cholesterol concentration. The establishment of a HeFH screening program on an all-island basis will require: expansion of the existing molecular genetics diagnostic services, the establishment of a cohort of nurses/genetic counselors, a HeFH database to support cascade testing, the development of a network of lipid clinics (in a primary or secondary care setting), and an educational initiative to raise awareness of HeFH among healthcare professionals and the general population.
    • Imaging spectrum of sudden athlete cardiac death.

      Arrigan, M T; Killeen, R P; Dodd, J D; Torreggiani, W C; Department of Radiology, Adelaide and Meath Hospital incorporating the National, Children's Hospital, Dublin, Ireland. martinarrigan@gmail.com (2012-02-01)
      Sudden athlete death (SAD) is a widely publicized and increasingly reported phenomenon. For many, the athlete population epitomize human physical endeavour and achievement and their unexpected death comes with a significant emotional impact on the public. Sudden deaths within this group are often without prior warning. Preceding symptoms of exertional syncope and chest pain do, however, occur and warrant investigation. Similarly, a positive family history of sudden death in a young person or a known family history of a condition associated with SAD necessitates further tests. Screening programmes aimed at detecting those at risk individuals also exist with the aim of reducing fatalities. In this paper we review the topic of SAD and discuss the epidemiology, aetiology, and clinical presentations. We then proceed to discuss each underlying cause, in turn discussing the pathophysiology of each condition. This is followed by a discussion of useful imaging methods with an emphasis on cardiac magnetic resonance and cardiac computed tomography and how these address the various issues raised by the pathophysiology of each entity. We conclude by proposing imaging algorithms for the investigation of patients considered at risk for these conditions and discuss the various issues raised in screening.
    • Re-evaluating the Rose approach: comparative benefits of the population and high-risk preventive strategies.

      Cooney, Marie-Therese; Dudina, Alexandra; Whincup, Peter; Capewell, Simon; Menotti, Alessandro; Jousilahti, Pekka; Njølstad, Inger; Oganov, Raphel; Thomsen, Troels; Tverdal, Aage; et al. (European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology, 2009-10)
      Options for the prevention of cardiovascular disease, the greatest global cause of death, include population preventive measures (the Rose approach), or specifically seeking out and managing high-risk cases. However, the likely benefit of a population approach has been recently questioned.
    • Screening for colorectal cancer: what fits best?

      Lee, Chun Seng; Ronan, Leen; O'Morain, Colm; McNamara, Deirdre; Department of Clinical Medicine, Trinity Centre for Health Sciences, Adelaide and Meath Hospital, Dublin, Ireland. leecs@tcd.ie (2012-06)
      Colorectal cancer (CRC) screening has been shown to be effective in reducing CRC incidence and mortality. There are currently a number of screening modalities available for implementation into a population-based CRC screening program. Each screening method offers different strengths but also possesses its own limitations as a population-based screening strategy. We review the current evidence base for accepted CRC screening tools and evaluate their merits alongside their challenges in fulfilling their role in the detection of CRC. We also aim to provide an outlook on the demands of a low-risk population-based CRC screening program with a view to providing insight as to which modality would best suit current and future needs.
    • Screening for Corynebacterium diphtheriae and Corynebacterium ulcerans in patients with upper respiratory tract infections 2007-2008: a multicentre European study.

      Wagner, K S; White, J M; Neal, S; Crowcroft, N S; Kuprevičiene, N; Paberza, R; Lucenko, I; Jõks, U; Akbaş, E; Alexandrou-Athanassoulis, H; et al. (Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 2011-04)
      Diphtheria is now rare in most European countries but, when cases do arise, the case fatality rate is high (5-10%). Because few countries continue to routinely screen for the causative organisms of diphtheria, the extent to which they are circulating amongst different European populations is largely unknown. During 2007-2008, ten European countries each screened between 968 and 8551 throat swabs from patients with upper respiratory tract infections. Six toxigenic strains of Corynebacterium diphtheriae were identified: two from symptomatic patients in Latvia (the country with the highest reported incidence of diphtheria in the European Union) and four from Lithuania (two cases, two carriers); the last reported case of diphtheria in Lithuania was in 2002. Carriage rates of non-toxigenic organisms ranged from 0 (Bulgaria, Finland, Greece, Ireland, Italy) to 4.0 per 1000 (95% CI 2.0-7.1) in Turkey. A total of 28 non-toxigenic strains were identified during the study (26 C. diphtheriae, one Corynebacterium ulcerans, one Corynebacterium pseudotuberculosis). The non-toxigenic C. ulcerans strain was isolated from the UK, the country with the highest reported incidence of cases due to C. ulcerans. Of the eleven ribotypes detected, Cluj was seen most frequently in the non-toxigenic isolates and, amongst toxigenic isolates, the major epidemic clone, Sankt-Petersburg, is still in circulation. Isolation of toxigenic C. diphtheriae and non-toxigenic C. diphtheriae and C. ulcerans in highly-vaccinated populations highlights the need to maintain microbiological surveillance, laboratory expertise and an awareness of these organisms amongst public health specialists, microbiologists and clinicians.