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We previously reported1 that expansions in the C9orf7 2 gene, identified by Southern blotting or using a repeat primed PCR assay,2 may go undetected using an alternative, standard PCR assay.3 We attributed this discrepancy to a 10 base pair deletion adjacent to the expansion which was presumed to interfere with genotyping.1 To determine the possible clinical and pathological relevance of the deletion, we compared patients in whom the C9orf72 expansion was detected using the Renton3 assay (C9 reference group) with those carrying an expansion not detected by this method (deletion group). The criteria for inclusion in the study were: (A) patients had been investigated and diagnosed with dementia within a single, specialist dementia clinic, (B) they had donated DNA as part of an ethically approved study into the molecular genetics of dementia and (C) expansions in the C9orf72 gene were identified using one or more standard procedures.1–3 An additional patient, in whom pathological examination showed p62 positive neuronal inclusions immunoreactive for the dipeptide repeat proteins, poly-GA, poly-GP and poly-GR, was also included since such histological findings are considered pathognomonic of the presence of an expansion in C9orf72 .4 …

Recent studies have shown that a large hexanucleotide expansion in C9ORF72 is the most common cause of inherited Frontotemporal Lobar Degeneration (FTLD) and Motor Neuron Disease (MND).1 In pathological terms, expansion carriers show a distinctive molecular signature within the dentate gyrus granule cells and CA4 pyramidal cells of the hippocampus and granule cells of the cerebellum characterised by TDP-43-negative, but p62-positive, neuronal cytoplasmic inclusions (NCI).2 Such inclusions contain dipeptide repeat proteins (DPR)2 ,3 generated through non-ATG initiated translation of the expanded region of the gene.4 ,5 On immunohistochemistry, an equivalent pattern of immunostaining is observed employing either antibodies to p62 or DPR, and that p62 immunostaining is an effective tool for identification of pathology associated with the presence of hexanucleotide expansions in C9ORF72 .2 ,3 In clinical terms, psychosis is one of the major clinical traits in patients with FTLD and/or …

Introduction The 2WW pathway for direct access upper-GI endoscopy was introduced in 2000 by the Department of Health to encourage early diagnosis of upper-GI cancers. Referrals from Primary Care are influenced by disease and symptom awareness in the general public. Despite widespread education targeted at General Practice, upper-GI cancers are frequently diagnosed late and dyspepsia symptoms are not recognised as serious by the wider public. This study is designed to examine the referral demographics and outcomes in our centre of 2WW referral patients, prior to the introduction of the Be Clear on Cancer National Campaign, and highlight the need of such an education campaign locally. Method All direct-to-test 2 WW upper-GI cancer referrals at Salford Royal in 2014 were included. Patients were identified from the endoscopy booking system and records accessed from the Electronic Patient Record to identify confirmed cancer diagnoses and subsequent outcomes. Patients who did not attend scheduled endoscopy appointment (n = 6) and patients with previous known upper-GI cancer (n = 1) were excluded from the analysis. Results 345 patients were included in the study. Significantly more female patients were referred; F:M 195:150 (p Conclusion Despite both oesophageal and gastric cancer being more common in men than woman (3:1 and 2:1 respectively), men in Salford are much less likely to be referred by Primary Care for 2WW urgent endoscopy. Additionally, female patients are more likely to present with early, and therefore more curable disease. It is clear from local research that men are less likely to be aware of the symptoms of upper-GI cancer and therefore less likely to seek advice when they have alarm signs. The national Be Clear On Cancer initiative has recently been launched and has already been shown during the pilot scheme to increase endoscopy referral and cancer diagnosis rates.1It is anticipated that the recently launched heartburn awareness campaign will result in more cancer being diagnosed at an earlier (treatable) stage; time will tell if this ambitious target is realised. Disclosure of interest None Declared. Reference Data from the National Cancer Waiting Times (CWT) Monitoring Dataset provided by NHS England and accessed via Public Health England’s Knowledge & Intelligence Team (East Midlands Pilot data)

Introduction Engaging and empowering patients to have greater involvement in their care is central to the vision of many governmental health policies. It is widely recognised that facilitating self-management for patients by providing information to help support understanding, decision-making and motivating behavioural change can lead to significant improved health outcomes. 1 We describe the development of a web-based IBD system that specifically aims to support patients’ in taking a more active role in managing their IBD. Methods Design and implementation of a web-based system in the healthcare setting is complex with a number of human, technological and organisational factors that need to be considered from the start of the concept. Stakeholder involvement is essential throughout this process. Using the theoretical framework of self-efficacy we have designed a system with the specific aim to support patients to engage in their health. Our aim has been to develop a web-based system that is easily managed and sustainable for use in routine clinical practise. Results ‘My IBD Portal’ has now been implemented. The web-based system is accessed via a secure login and provides patients with a number of components. This includes a summary of their disease, clinic letters and their latest test results. Functions known to further enhance self-management are included with electronic self-monitoring of symptoms and decision support. Secure messaging with the IBD unit is provided. Throughout the site personalised and trusted information links are integrated. The system is automated to populate the specific data fields each day from the hospital electronic medical record. The infrastructure of the system, has been specifically designed to be easily adopted throughout the UK healthcare setting. Conclusion Design and implementation of patient-focused ehealth within the NHS is complex. Stakeholder involvement is essential. Evaluation of web-based interventions requires careful consideration, as they are often complex interventions by nature. The revised MRC framework provides a useful resource to develop a systematic process to evaluate such technologies.2 We are currently evaluating the impact of ‘My IBD Portal’ in a formal trial setting. Disclosure of Interest None Declared References De Silva et al. Evidence:Helping people help themselves. The Health Foundation 2011. http://www.health.org.uk Anderson et al. New MRC guidance on complex interventions. 2008. BMJ; 338 :a1937

Introduction Non-adherence to maintenance 5-ASA occurs in at least 30% of ulcerative colitis (UC) patients and is associated with adverse health outcomes and increased healthcare expenditure. Targeted strategies to convey information about benefits of medication to patients may improve adherence. We undertook to discover the preferred mode of information delivery among UC patients; the thresholds of benefit that would produce adherence were also assessed. Methods Four methods of displaying information about the benefits of maintenance therapy in remission were explained to UC patients in remission, during face to face structured interviews. These were largely conventional numerical approaches: relative risk reduction [RR], absolute risk reduction [AR], number needed to treat [NNT]. The fourth was an optical representation via Cates plot [CP]). Patients understanding and preference for each approach were recorded. Patients were asked to state the minimum thresholds required to adhere to a hypothetical medication (with 5-ASA like properties) for the benefits of relapse and cancer reduction respectively. Thresholds were determined for each method of display. Results Of 50 participants (mean age 50 years; 58% male) 48% preferred data presentation by RR over CP (28%), AR (20%) and NNT (4%). 94% found RR easy to understand, better than CP (74%), AR (88%) or NNT (48%). Thresholds required for adherence also differed between methods. For bowel cancer prevention, 94% indicated adherence for benefit levels of 61% RR or lower but only 57% would adhere when presented with the corresponding CP (p Conclusion Ulcerative colitis patients prefer RR and CP as methods to display medication benefit. NNT is poorly understood and unpopular. Patients apply significantly higher thresholds for adherence when presented with CP in comparison to RR. Presented with information in this way, most patients would choose to adhere to 5-ASA medication when offered the actual benefit profile. Reduction of cancer risk may be a stronger motivator than maintenance of remission. Interventions to improve 5-ASA adherence should use RR and convey benefits for cancer and flare prevention. Competing interests C Selinger: Grant/Research Support from: Shire, Ferring, Nycomed, Y Kinjo: None declared, J McLaughlin: None declared, A Robinson: None declared, R Leong: Grant/Research Support from: Shire, Ferring, Nycomed.