Using the internet to seek information about genetic and rare diseases: A case study comparing data from 2006 and 2011

BACKGROUND: The Genetic and Rare Disease Information Center (GARD) is a major provider of Web-based information on genetic and rare diseases. Little is known about the type of Web-based information individuals seek about genetic and rare diseases or their reasons for seeking. OBJECTIVE: The objective of this paper is to describe the types of Web-based information sought about genetic and rare diseases and the reasons for seeking it from GARD by examining inquiries from 2006 and 2011. METHODS: There were 278 English-language email and Web-based inquiries posed to GARD by lay individuals (ie, patients, parents, and relatives), which were randomly selected from inquiries in 2006 (n=68) and 2011 (n=210) and examined using content analysis. RESULTS: Most often in both years, individuals sought basic disease information (51/68, 75.0% and 132/210, 62.8%; P=.067) and information about treatment (17/51, 33.3% and 62/132, 47.0%; P=.095). Specifically, inquirers requested information about their disease prognosis (6/51, 11.8% and 23/132, 17.4%; P=.347) and made requests for specialists (8/68, 11.8% and 31/210, 14.8%; P=.536). In both 2006 and 2011, a substantial subset of inquirers requested information related to undiagnosed symptoms, representing 16.2% (11/68) and 11.9% (25/210; P=.362) of inquiries, respectively. Inquirers were significantly more likely to have seen a health care provider before contacting GARD (99/210, 47.1% vs 20/68, 29.4%; P=.010) and to ask about clinical research studies in 2011 than in 2006 (24/210, 11.4% vs 2/68, 2.9%; P=.037). In the 2011 data set, the majority of the inquirers were women (201/210, 95.7%). In our 2006 sample, men were the majority source of inquiries (54/68, 79.4%). CONCLUSIONS: Findings from this study indicate that lay people contacting a genetic and rare disease information center most often seek information about disease prognosis, finding a specialist, and obtaining a diagnosis for symptoms. Unique characteristics of individuals searching the Internet for genetic and rare diseases information, includes a growing interest in participating in clinical research studies and a desire to supplement or better understand information discussed during a visit with a health care provider. These efforts represent advancements in patient self-advocacy

A web-based intervention for carers of individuals with anorexia nervosa (We Can): trial protocol of a randomised controlled trial investigating the effectiveness of different levels of support

Background Anorexia nervosa (AN) is a life-threatening mental disorder that is associated with substantial caregiver burden. Carers of individuals with AN report high levels of distress and self-blame, and insufficient knowledge to help their loved ones. However, carers can have a very important role to play in aiding recovery from AN, and are often highly motivated to assist in the treatment process. This manuscript presents the protocol for a randomised controlled trial (RCT) of We Can, a web-based intervention for carers for people with AN. The study aims to investigate the effectiveness of We Can delivered with different intensities of support. Methods The study takes the form of a multi-site, two-country, three group RCT, comparing We Can (a) with clinician messaging support (We Can-Ind), (b) with moderated carer chatroom support (We Can-Chat) and (c) with online forum only (We Can-Forum). Participants will be 303 carers of individuals with AN as well as, where possible, the individuals with AN themselves. Recruitment will be via specialist eating disorder services and carer support services in the UK and Germany. Randomisation of carers to one of the three intervention conditions in a 1:1:1 ratio will be stratified by whether or not the individual with AN has (a) agreed to participate in the study and (b) is a current inpatient. The We Can intervention will be provided to carers online over a period of 12 weeks. Participants will complete self-report questionnaires at pre-intervention (T1), mid-intervention (mediators only; 4-weeks post-randomisation), post-intervention (T2; 3-months post randomisation), and 6 months (T3) and 12 months (T4) after randomisation. The primary outcome variables are carer symptoms of depression and anxiety. Secondary outcome variables will be measured in both carers and individuals with AN. Secondary carer outcome variables will include alcohol and drug use and quality of life, caregiving behaviour, and the acceptability and use of We Can and associated supports. Secondary outcomes measured in individuals with AN will include eating disorder symptoms, and symptoms of depression and anxiety. The study will also evaluate the cost-effectiveness of the three We Can conditions, and test for mediators and moderators of the effects of We Can. The trial is registered at the International Standard Randomisation Controlled Trial Number (ISRCTN) database, registration number: ISRCTN11399850. Discussion The study will provide insight into the effectiveness of We Can and its optimal method/s of delivery

A Cross-National Comparison of School Students' Perceptions Regarding High Performing Peers

This cross-national scenario based study exam-ined fourth-grade students’ perceptions of high-performing classmates in terms of their ex-pected intellectual abilities, positive social qual-ities and popularity among their peers across seven countries. The overall results show that high academic achievements predominantly lead to positive expectations within the peer group. However, pronounced differences were found between the countries. The results indi-cated that students from Spanish-speaking countries viewed their potential high-perform-ing peers most favorably, followed by students from Australia, the United Kingdom and Ger-many. The least favorable expectations, but by no means negative attitude, were exhibited by students from the two East-Asian countries Ko-rea and Vietnam. In contrast, the respondents’ gender and the gender of the hypothetical suc-cessful classmates had less influence on student perceptions of high-performers. These findings have implications for the educational provision of high performing students in different cross-national contexts

Exploring the genetics of irritable bowel syndrome: A GWA study in the general population and replication in multinational case-control cohorts

OBJECTIVE: IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies. DESIGN: We conducted a GWA study (GWAS) of IBS in a general population sample of 11\u2005326 Swedish twins. IBS cases (N=534) and asymptomatic controls (N=4932) were identified based on questionnaire data. Suggestive association signals were followed-up in 3511 individuals from six case-control cohorts. We sought genotype-gene expression correlations through single nucleotide polymorphism (SNP)-expression quantitative trait loci interactions testing, and performed in silico prediction of gene function. We compared candidate gene expression by real-time qPCR in rectal mucosal biopsies of patients with IBS and controls. RESULTS: One locus at 7p22.1, which includes the genes KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31 710(-6) in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. CONCLUSIONS: Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions

Aurantoside J: a New Tetramic Acid Glycoside from Theonella swinhoei. Insights into the Antifungal Potential of Aurantosides

The chemical investigation of an Indonesian specimen of Theonella swinhoei afforded four aurantosides, one of which, aurantoside J (5), is a new compound. The structure of this metabolite, exhibiting the unprecedented N-α-glycosidic linkage between the pentose and the tetramate units, has been determined through detailed spectroscopic analysis. The four obtained aurantosides have been tested against five fungal strains (four Candida and one Fusarium) responsible of invasive infections in immuno-compromised patients. The non-cytotoxic aurantoside I (4) was the single compound to show an excellent potency against all the tested strains, thus providing valuable insights about the antifungal potential of this class of compounds and the structure-activity relationships

Desnutrição e aproveitamento escolar: estudo entre escolares da primeira série do primeiro grau da zona urbana periférica de Londrina, PR, Brasil

Four hundred and fifty first graders from the peripheric urban area of Londrina were studied with the objective of demonstrating a possible association between malnutrition and school failure. In this series of 450 children, 227 were male and 223 were female. The incidence of malnutrition was 34,89%. Of the undernourished children, only 56,69% had a satisfactory outcome in comparison with 73,88% of the eutrophic children, thus demonstrating a significant relation between malnutrition and school failure. The undernourished children belonged to families with a low per capita gross monthly income, in a greater proportion than the eutrophic ones. School failure was shown to be more closely related to per capita month expenditures in food rather than with the per capita gross monthly income itself.Estudaram-se 450 escolares da periferia de Londrina, PR, Brasil, com o objetivo de demonstrar uma possível associação entre desnutrição e aproveitamento escolar. Destes 450 escolares, 227 eram do sexo masculino e 223 do feminino. A incidência de desnutrição foi de 34,89%. Das crianças desnutridas, apenas 56,69% obtiveram rendimento satisfatório, em comparação aos 73,88% das crianças eutróficas, demonstrando uma relação significativa entre desnuirição e aproveitamento escolar. As crianças desnutridas provinham de famílias com baixa renda mensal bruta per capita em maior proporção que as eutróficas. O aproveitamento escolar mostrou estar mais relacionado ao gasto mensal per capita em alimentação do que a renda mensal bruta per capita

NFDI4Culture - Consortium for research data on material and immaterial cultural heritage

Digital data on tangible and intangible cultural assets is an essential part of daily life, communication and experience. It has a lasting influence on the perception of cultural identity as well as on the interactions between research, the cultural economy and society. Throughout the last three decades, many cultural heritage institutions have contributed a wealth of digital representations of cultural assets (2D digital reproductions of paintings, sheet music, 3D digital models of sculptures, monuments, rooms, buildings), audio-visual data (music, film, stage performances), and procedural research data such as encoding and annotation formats. The long-term preservation and FAIR availability of research data from the cultural heritage domain is fundamentally important, not only for future academic success in the humanities but also for the cultural identity of individuals and society as a whole. Up to now, no coordinated effort for professional research data management on a national level exists in Germany. NFDI4Culture aims to fill this gap and create a usercentered, research-driven infrastructure that will cover a broad range of research domains from musicology, art history and architecture to performance, theatre, film, and media studies. The research landscape addressed by the consortium is characterized by strong institutional differentiation. Research units in the consortium's community of interest comprise university institutes, art colleges, academies, galleries, libraries, archives and museums. This diverse landscape is also characterized by an abundance of research objects, methodologies and a great potential for data-driven research. In a unique effort carried out by the applicant and co-applicants of this proposal and ten academic societies, this community is interconnected for the first time through a federated approach that is ideally suited to the needs of the participating researchers. To promote collaboration within the NFDI, to share knowledge and technology and to provide extensive support for its users have been the guiding principles of the consortium from the beginning and will be at the heart of all workflows and decision-making processes. Thanks to these principles, NFDI4Culture has gathered strong support ranging from individual researchers to highlevel cultural heritage organizations such as the UNESCO, the International Council of Museums, the Open Knowledge Foundation and Wikimedia. On this basis, NFDI4Culture will take innovative measures that promote a cultural change towards a more reflective and sustainable handling of research data and at the same time boost qualification and professionalization in data-driven research in the domain of cultural heritage. This will create a long-lasting impact on science, cultural economy and society as a whole