Inflammatory bowel disease patient profiles are related to specific information needs: A nationwide survey

BACKGROUND Inflammatory bowel diseases(IBD) is a heterogenous, lifelong disease, with an unpredictable and potentially progressive course, that may impose negative psychosocial impact on patients.While informed patients with chronic illness have improved adherence and outcomes, previous research showed that the majority of IBD patients receive insufficient information regarding their disease.The large heterogeneity of IBD and the wide range of information topics makes a one-size fits all knowledge resource overwhelming and cumbersome.We hypothesized that different patient profiles may have different and specific information needs, the identification of which will allow building personalized computer-based information resources in the future.AIM To evaluate the scope of disease-related knowledge among IBD patients and determine whether different patient profiles drive unique information needs.METHODS We conducted a nationwide survey addressing hospital-based IBD clinics.A Total of 571 patients completed a 28-item questionnaire, rating the amount of information received at time of diagnosis and the importance of information, as perceived by participants, for a newly diagnosed patient, and for the participants themselves, at current time.We performed an exploratory factor analysis of the crude responses aiming to create a number of representative knowledge domains(factors), and analyzed the responses of a set of 15 real-life patient profiles generated by the study team.RESULTS Participants gave low ratings for the amount of information received at disease onset(averaging 0.9/5) and high ratings for importance, both for the newly diagnosed patients(mean 4.2/5) and for the participants themselves at current time(mean 3.5/5).Factor analysis grouped responses into six informationdomains.The responses of selected profiles, compared with the rest of the participants, yielded significant associations(defined as a difference in rating of >0.5 points with a P < 0.05).Patients with active disease showed a higher interest in work-disability, stress-coping, and therapy-complications.Patients newly diagnosed at age > 50, and patients with long-standing disease(> 10 years)showed less interest in work-disability.Patients in remission with mesalamine or no therapy showed less interest in all domains except for nutrition and long-term complications.CONCLUSION We demonstrate unmet patient information needs.Analysis of various patient profiles revealed associations with specific information topics, paving the way for building patient-tailored information resources.

Current and Future Treatment of Hepatocellular Carcinoma:An Updated Comprehensive Review

Hepatocellular carcinoma(HCC)is among the leading causes of cancer-related mortality.The principal treatment is surgical resection or liver transplantation,depending on whether the patient is a suitable transplant candidate.However,in most patients with HCC the diagnosis is often late,thereby excluding the patients from definitive surgical resection.Medical treatment includes sorafenib,which is the most commonly used systemic therapy;although,it has been shown to only minimally impact patient survival by several months.Chemotherapy and radiotherapy are generally ineffective.Due to the poor prognosis of patients with HCC,newer treatments are needed with several being in development,either in preclinical or clinical studies.In this review article,we provide an update on the current and future medical and surgical management of HCC.

Drug Induced Liver Injury: Review with a Focus on Genetic Factors, Tissue Diagnosis, and Treatment Options

Drug-induced liver injury (DILI) is a rare but potentially life threatening adverse drug reaction.DILI may mimic any morphologic characteristic of acute or chronic liver disease,and the histopathologic features of DILI may be indistinguishable from those of other causes of liver injury,such as acute viral hepatitis.In this review article,we provide an update on causative agents,clinical features,pathogenesis,diagnosis modalities,and outcomes of DILI.In addition,we review results of recently reported genetic studies and updates on pharmacological and invasive treatments.

Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease

Background:Family studies support a genetic predisposition to inflammatory bowel diseases(IBD),but known genetic variants only partially explain the disease heritability.Families withmultiple affected individuals potentially harbour rare and highimpact causal variants.Long regions of homozygosity due to recent inbreedingmay increase the risk of individuals bearing homozygous loss-of-function variants.This study aimed to identify rare and homozygous genetic variants contributing to IBD.Methods:Four families with known consanguinity and multiple cases of IBD were recruited.In a family-specific analysis,we utilised homozygosity mapping complemented by whole-exome sequencing.Results:We detected a single region of homozygosity shared by Crohn’s disease cases from a family of Druze ancestry,spanning 2.6Mb containing the NOD2 gene.Whole-exome sequencing did not identify any potentially damaging variants within the region,suggesting that non-coding variation may be involved.In addition,affected individuals in the families harboured several rare and potentially damaging homozygous variants in genes with a role in autophagy and innate immunity including LRRK1,WHAMM,DENND3,and C5.Conclusion:This study examined the potential contribution of rare,high-impact homozygous variants in consanguineous families with IBD.While the analysis was not designed to achieve statistical significance,our findings highlight genes or loci that warrant further research.Non-coding variants affecting NOD2 may be of importance in Druze patients with Crohn’s disease.