47 research outputs found

    "I know that you know that I know": neural substrates associated with social cognition deficits in DM1 patients

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    Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in the Eyes" and the ToM-story tests. These patients, together with 18 healthy controls, also underwent resting-state functional MRI. A composite Theory of Mind score was computed for all recruited patients and correlated with their brain functional connectivity. This analysis provided the patients' "Theory of Mind-network", which was compared, for its topological properties, with that of healthy controls. We found that DM1 patients showed deficits in both tests assessing ToM. These deficits were associated with specific patterns of abnormal connectivity between the left inferior temporal and fronto-cerebellar nodes in DM1 brains. The results confirm the previous suggestions of ToM dysfunctions in patients with DM1 and support the hypothesis that difficulties in social interactions and personal relationships are a direct consequence of brain abnormalities, and not a reaction symptom. This is relevant not only for a better pathophysiological comprehension of DM1, but also for non-pharmacological interventions to improve clinical aspects and impact on patients' success in life

    Grand Challenges in global eye health: a global prioritisation process using Delphi method

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    Background: We undertook a Grand Challenges in Global Eye Health prioritisation exercise to identify the key issues that must be addressed to improve eye health in the context of an ageing population, to eliminate persistent inequities in health-care access, and to mitigate widespread resource limitations. Methods: Drawing on methods used in previous Grand Challenges studies, we used a multi-step recruitment strategy to assemble a diverse panel of individuals from a range of disciplines relevant to global eye health from all regions globally to participate in a three-round, online, Delphi-like, prioritisation process to nominate and rank challenges in global eye health. Through this process, we developed both global and regional priority lists. Findings: Between Sept 1 and Dec 12, 2019, 470 individuals complete round 1 of the process, of whom 336 completed all three rounds (round 2 between Feb 26 and March 18, 2020, and round 3 between April 2 and April 25, 2020) 156 (46%) of 336 were women, 180 (54%) were men. The proportion of participants who worked in each region ranged from 104 (31%) in sub-Saharan Africa to 21 (6%) in central Europe, eastern Europe, and in central Asia. Of 85 unique challenges identified after round 1, 16 challenges were prioritised at the global level; six focused on detection and treatment of conditions (cataract, refractive error, glaucoma, diabetic retinopathy, services for children and screening for early detection), two focused on addressing shortages in human resource capacity, five on other health service and policy factors (including strengthening policies, integration, health information systems, and budget allocation), and three on improving access to care and promoting equity. Interpretation: This list of Grand Challenges serves as a starting point for immediate action by funders to guide investment in research and innovation in eye health. It challenges researchers, clinicians, and policy makers to build collaborations to address specific challenges. Funding: The Queen Elizabeth Diamond Jubilee Trust, Moorfields Eye Charity, National Institute for Health Research Moorfields Biomedical Research Centre, Wellcome Trust, Sightsavers, The Fred Hollows Foundation, The Seva Foundation, British Council for the Prevention of Blindness, and Christian Blind Mission. Translations: For the French, Spanish, Chinese, Portuguese, Arabic and Persian translations of the abstract see Supplementary Materials section

    Grand Challenges in global eye health: a global prioritisation process using Delphi method

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    Background We undertook a Grand Challenges in Global Eye Health prioritisation exercise to identify the key issues that must be addressed to improve eye health in the context of an ageing population, to eliminate persistent inequities in health-care access, and to mitigate widespread resource limitations. Methods Drawing on methods used in previous Grand Challenges studies, we used a multi-step recruitment strategy to assemble a diverse panel of individuals from a range of disciplines relevant to global eye health from all regions globally to participate in a three-round, online, Delphi-like, prioritisation process to nominate and rank challenges in global eye health. Through this process, we developed both global and regional priority lists. Findings Between Sept 1 and Dec 12, 2019, 470 individuals complete round 1 of the process, of whom 336 completed all three rounds (round 2 between Feb 26 and March 18, 2020, and round 3 between April 2 and April 25, 2020) 156 (46%) of 336 were women, 180 (54%) were men. The proportion of participants who worked in each region ranged from 104 (31%) in sub-Saharan Africa to 21 (6%) in central Europe, eastern Europe, and in central Asia. Of 85 unique challenges identified after round 1, 16 challenges were prioritised at the global level; six focused on detection and treatment of conditions (cataract, refractive error, glaucoma, diabetic retinopathy, services for children and screening for early detection), two focused on addressing shortages in human resource capacity, five on other health service and policy factors (including strengthening policies, integration, health information systems, and budget allocation), and three on improving access to care and promoting equity. Interpretation This list of Grand Challenges serves as a starting point for immediate action by funders to guide investment in research and innovation in eye health. It challenges researchers, clinicians, and policy makers to build collaborations to address specific challenge

    Sarcoma - Consequence of Irradiation

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    Sarkome - Folgen einer Bestrahlung

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    Transitions and Old Age Potential (TOP) - 1st, 2nd and 3rd Wave

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    The survey ´Transitions and Old Age Potential: Transitions and Age Potentials (TOP)´ is based on a representative sample of 5,002 persons for the German-speaking resident population aged 55 to 70 (born between 1942 and 1958). The study focuses on the life plans and potential of older adults on the labour market, in civil society and in the family, as well as their transitions into retirement. In spring 2013, a 40-minute telephone interview was conducted on the basis of a standardised survey instrument. It covers instruments in the following areas: sociodemography, employment and retirement, informal work in civil society and the family, age images, health and well-being, and personality. In 2015/2016, the first-wave respondents who were ready to be interviewed again were interviewed. A total of 2,501 interviews were completed in the second wave. In terms of content, the second wave TOP focuses on the transitions into retirement, the realisation of job intentions, particularly in the labour market, as part of a multi-stage model of action, and the change in the potential of older adults over time. Like the first wave, the repeat survey was conducted by the Umfragezentrum Bonn (uzbonn) on behalf of the Federal Institute for Population Research (BiB). In addition to measures to reduce the bias from panel mortality and to increase utilisation, longitudinal weighting methods were used which, among other things, adjust for selective participation probabilities in the second wave. In the third wave of TOP, conducted in 2019, a total of 1,561 interviews were completed out of the 2,455 people who agreed to be interviewed again in the second wave. In the third wave, the partners of the target persons were also interviewed. Thus, a dyadic study design was realised in the cross-section of the third wave. A total of 576 interviews were completed at the couple level. The thematic focus of this dyadic survey is the joint transition into retirement. Measures to ensure the quality of the samples and the methodological feasibility of the dyadic study design were already implemented in the run-up to the third wave, e.g. longitudinal weighting procedures to adjust for selective drop-outs between the survey waves. The third wave of TOP was also conducted by the Bonn Survey Centre (uzbonn) on behalf of the Federal Institute for Population Research (BiB).Wave 1: Personal meaning of work; current receipt of pension and type of pension; employment situation before retirement; current employment status of non-retired persons; reasons for extending employment beyond the age limit; year of last full-time employment of retired persons; start of employment with current or last employer; time of last change in occupation; weekly working hours of current or last occupation; occupational position, description and job title of current or last occupation; authority to issue instructions; employment as civil servant; number of employees in current or last occupation; number of employees in current or last occupation. Job status, description and job title of current or last job; authority to give instructions; employment in public service; characteristics as civil servant, employee or worker; number of employees (size of enterprise); possibility of continued employment with current or last employer; characterisation of current or last job (mentally or physically demanding, social contacts, independent decision-making, different skills, learning new things, importance of work, change of job, getting recognition, professional self-efficacy (in case of difficulties as well as general coping), learning on the job and further training); unemployment for at least three months; Start of unemployment (month and year); total frequency of unemployment; duration of last unemployment (months and years); duration of early retirement, early pension and release phase of partial retirement (month and year); time of entry into early retirement or release phase according to the following criteria the release phase according to own wish; sideline employment; inactive persons additionally: intended take-up of gainful employment in the next 12 months or reasons against taking up gainful employment; actual or expected and desired retirement age. Life style in retirement (more time with the family, things for which there was no time before, no longer doing anything for society, doing something useful for free, further education, boredom); reasons for retirement; perceived burden of the transition to retirement; actual or expected changes due to retirement in various areas (partnership, relationship with friends, children, grandchildren, general well-being, leisure activities); concrete plans for retirement; preparation for retirement (e.g. informing people about voluntary work, talking to people in their social environment and with their last employer as well as informing people in the media about gainful employment in retirement); actual gainful employment in retirement or inclination to gainful employment; general feeling of well-being, leisure activities). actual employment in retirement or inclination to work; general reasons for or personal reasons against employment in retirement; actual or desired number of working days and hours per week; influence on flexible working time; personal importance of influence on flexible working time; actual or desired place of work (predominantly at home or at work); influence on place of work and importance of influence; change of employer or desired change of employer; change of professional activity; desire to resume last professional activity; influence on activity and importance of this influence; desired duration of employment. Personality: self-characterisation (Big Five: Openness, Neuroticism, Extraversion, Conscientiousness); Attitude towards older people (scale); Perceived age (physical and mental); estimated life expectancy in Germany; estimated personal life expectancy; Life investment (health, work, leisure activities, family well-being); scale internal locus of control (life in own hands, success after effort) and external locus of control (life determined by others, plans thwarted by fate); life satisfaction in general and in selected areas of life (occupational activity, retirement, leisure activities, partnership, relationship with friends, children, grandchildren or great-grandchildren); frequency of physical activity; intended physical activity five times a week for 30 minutes or more. Informal work: Civic and family engagement activities in the last three months; start of activities; volunteering; frequency and organisational setting of volunteering (e.g. club, union, party, church, support group, etc. ); extension of voluntary work is conceivable; voluntary work in the past; reasons for giving up voluntary work; future voluntary work is conceivable; reasons for or against personal voluntary work; frequency of exercising the respective civic and family commitment and persons looked after; recognition for the activity. Health: self-assessment of health status; restriction in everyday life due to own health status when lifting, climbing stairs, bending, kneeling or stooping; general emotional state in the last four weeks (feeling rushed or pressed for time, depressed or gloomy, calm and balanced, full of energy, physical pain, restriction of activity due to physical problems, reduced performance due to mental problems, restriction of social contacts due to health problems). Demography: age; sex; stable partnership; marital status; number of children, grandchildren and great-grandchildren; household size; household composition; number of children under 15 in the household; place of residence in childhood and adolescence; German nationality; level of education: highest school-leaving qualification; vocational training qualifications; vocational qualification; year of birth of partner; partner´s employment status; main source of income; household net income (open and grouped); housing status; assessment of financial situation; expected financial situation in retirement; number of landline numbers in the household; willingness to be interviewed again. Additionally coded were: Case-related ID; weighting factor, number of persons born between 1942 and 1958; household composition: Number of named groups of persons; group classification retired/non-retired; group membership; age groups; ISCED-97 (International Standard Classification of Education) according to Destatis; number of years in schooling and vocational training; settlement structure county types; municipality size; monthly net household income (imputed); monthly net equivalent household income (modified OECD scale); summation scale: Physical (PCS) and Mental (MCS); current and last farm size; partnership status; family activities and civic engagement (sum score); current and last employment in hours per week; federal state; region of residence (East Germany, incl. Berlin and West Germany); migration background; employment status (part-time or full-time). Derived indices: Occupation coding according to ISCO-88 (International Standard Classification of Occupations). Wave 2: Employment and transition to retirement: personal meaning of work; receipt of pension in 2016 and type of pension; employment situation before retirement; current employment status of non-retired persons; reasons for extending employment beyond the age limit; year of last full-time employment of retired and non-employed persons; start of employment with current or last employer; new retirees and employed persons: change in occupational situation and type of change; time of last change in occupational activity; weekly working hours of current or last occupation; weekly hours of last occupation of non-employed persons; occupational status; description and job title of current or last occupation; importance and evaluation of various work factors; authority to give instructions; employment in the public sector; characteristics as civil servant, employee or worker; number of employees (size of enterprise); possibility of continuing employment with current or last employer; type of measures offered (e.g. flexible working time models); characterisation of the current or last job (mentally or physically demanding, social contacts, independent decision-making, different skills, learning new things, importance of the job, change of job, getting recognition, professional self-efficacy (in case of difficulties as well as general coping), learning on the job, underchallenge, overchallenge); unemployment experience; onset of unemployment (month and year); total frequency of unemployment; duration of last unemployment in 2016; duration of early retirement, early pension, and release phase of partial retirement (month and year); sideline employment; inactive in addition: Intended to take up gainful employment in the next 12 months or reasons against taking up gainful employment; actual or expected and desired retirement age. Images of old age: Opinion about older people (e.g. cooperative, reliable, etc.); perception of life in retirement (time with partner, taking care of grandchildren or children, caring, gainful employment, voluntary work, learning new things, pursuing hobbies, boredom, worthlessness, good mood, giving up interests, being at home, energetic, satisfied, emptiness, liberated); reasons for retirement; perceived burden of the transition to retirement; expected changes through retirement in various areas (partnership, relationship with friends, children, grandchildren, general well-being, leisure activities); actual gainful employment in retirement; same gainful employment in retirement as in wave 1 resp. inclination to work in retirement; reasons for current employment in retirement; reasons for intention to work; personal reasons against working in retirement; actual or desired number of working days and hours per week; desired place of work (mainly at home or at work); desired change of employer; desired activity; desired duration of employment. Personality: self-characterisation (Big Five); attitude towards older people (scale); life investment (health, work, leisure activities, family well-being); internal locus of control scale (life in one´s own hands, success after effort) and external locus of control scale (life determined by others, plans thwarted by fate); life satisfaction in general and in selected areas of life (occupation, retirement, leisure activities, partnership, relationship with friends, children, grandchildren or great-grandchildren); frequency of physical activities; intended physical activity. Informal work: civic and family engagement activities in the last three months (volunteering or voluntary work, caring for children, caring and nursing for the sick, helping friends, acquaintances, neighbours, continuing education); frequency of exercising the respective civic and family engagement and persons cared for. Health: self-assessment of health status; restriction in everyday life due to own health status when lifting, climbing stairs, bending, kneeling or stooping; general emotional state in the last four weeks (time pressure, depressed or gloomy, calm and balanced, full of energy, physical pain, restriction of activity due to physical problems, reduced performance due to mental problems, restriction of social contacts due to health problems). Demography: sex; stable partnership; marital status; number of children, grandchildren and great-grandchildren; household size; household composition; housing situation; number of children under 15 in the household; year of birth of partner; employment status of partner; net household income; housing status; assessment of financial situation; expected financial situation in retirement; willingness to be interviewed again. Additionally coded were: Total weight wave 2 longitudinal; panel participation (participation 2nd wave); group classification retirees/non-retirees; group membership; settlement structure county types; municipality size; monthly net equivalent household income; personal monthly net income; income from current or from former employment; employment status (part-time or full-time); partner status; federal state; region of residence (East Germany, incl. Berlin and West Germany). Derived indices: Occupation coding according to ISCO-88 (International Standard Classification of Occupations). Wave 3 (target persons/anchors): Current employment status; current receipt of old-age pension; employment situation before retirement/retirement; year of early retirement/retirement; year of entry into exemption phase; retirement, year; retirement, early retirement/retirement, entry into exemption phase, month; retirement, early retirement/retirement, entry into exemption phase, quarter; desired retirement entry; desired start of early retirement/retirement; desired start of exemption phase, quarter; employment situation before retirement; time of termination of employment; end of employment (year, month, quarter); start of employment, year; last/current scope of employment; last/current job; importance at work in general; evaluation of last/current job; authority to give instructions last/current job; employment in public service; type of employment in public service; employment as employee; employment as worker; last/current size of enterprise; possibility of continued employment; working conditions (WDQ); work-to-family conflicts; Income relation partner; employment history status/scope; unemployment experience; start of current unemployment (month, year, quarter); frequency of unemployment; duration of last unemployment; intention to work anchor; reasons for intention to work anchor; current quasi-retirement anchor; time quasi-retirement anchor; start quasi-retirement anchor (year, month, quarter); retirement reason partnership; satisfaction retirement transition; retirement motive earlier/later exit; expected retirement (year, month, quarter); former quasi-retirement (retirees, current/earlier pre-retirees; time of former quasi-retirement; reasons for retirement; burden of retirement transition; concrete plans for retirement; gainful employment in retirement; gainful employment in retirement (year, month, quarter); former gainful employment in retirement; main reason for not converting to gainful employment; same gainful employment in retirement; gainful employment intention in retirement; reasons for employment in retirement; main reason employment in retirement; reflection employment termination; strength of reflection employment termination; reasons non-employment in retirement; main reason non-employment in retirement; days worked per week, retirement; hours worked per week, retirement; place of work, retirement; job evaluation; same employer; change of occupation, retirement; same occupation if change, retirement; type of occupation, retirement; employment as employee, retirement; employment as worker, retirement; size of enterprise, retirement; requested change of occupation, retirement; planning of actual exit from employment; duration of employment, retirement; reason for termination of employment; main reason for termination of employment; desired duration of employment; time of exit from employment; reasons for exit from employment, retirement; main reason for exit from employment, retirement; breaks in employment duration in retirement; intention to work again; preparation for employment, retirement. Partnership/demography: partnership status; contact current partner; duration of current partnership; marital status; year of birth partner; employment congestion partner; employment in retirement, partner; employment intention partner; assessment of quasi-retirement, partner; number of children; financial support of child/children; number of (great-)grandchildren; number of persons in household; type of persons in household; number of persons younger than 15 years. Joint retirement transition/joint retirement: Life plans in retirement; importance of joint retirement transition; assessment of difference in retirement; influence of partner on retirement transition; influence of anchor on retirement transition partner; desire for earlier/later retirement partner; reasons for joint retirement; main reason for joint retirement; planning earlier retirement; enabling joint retirement; reasons for not retiring at the same time; main reason for not retiring at the same time; partnership conflicts in retirement. Personality: self-characterisation (Big Five); attitude towards older people (scale); life satisfaction in general and in selected areas of life (occupational activity, retirement, leisure activities, partnership, relationship with friends, children, grandchildren or great-grandchildren); assessment of partnership; gender roles; social isolation/loneliness; frequency of physical activities; intended physical activity. Informal work: activities of civic and family engagement in the last three months (voluntary or honorary work, care of children, care and nursing of the sick, help for friends, acquaintances, neighbours, further education); frequency of exercising the respective civic and family engagement and persons cared for. Health: self-assessment of health status; restriction in everyday life due to own health status when lifting, climbing stairs, bending, kneeling or stooping; general emotional state in the last four weeks (time pressure, depressed or gloomy, calm and balanced, full of energy, physical pain, restriction of activity due to physical problems, reduced performance due to mental problems, restriction of social contacts due to health problems); assessment of partner´s health. Demography: sex; household net income; personal net income; income from employment in retirement; housing status; assessment of financial situation; expected financial situation in retirement; willingness to be interviewed again; contacting partner. Additionally coded were: Total weight of wave 3 in the longitudinal section; panel participation (participation in wave 1, 2 and 3); settlement structure district types; municipality size classes; federal state; region of residence; grouping of partner by anchor; couple constellation of anchor; exit from the labour market by retirees, inactive persons and employed persons, partner; end of employment; entry into the current quasi-retirement; entry into the former quasi-retirement; entry into retirement by retirees; expected entry into retirement by employed persons; expected retirement for inactive/unemployed; entry into past (quasi-)retirement or future retirement; start of retirement; difference in date of birth in years; difference between months of end of employment; difference between dates of entry into past (quasi-)retirement/future retirement; both partners were employed until at least age 50. Derived indices: Occupation coding according to ISCO-88 (International Standard Classification of Occupations). Wave 3 (partner): Current employment status; employment situation before retirement/retirement; year of early retirement/retirement; year of entry into the exemption phase; retirement, year; retirement, early retirement/retirement, entry into exemption phase, month; retirement, early retirement/retirement, entry into exemption phase, quarter; employment situation before retirement/retirement; time of termination of employment; end of employment (year, month, quarter); start of employment, year; last/current scope of employment; last/current occupational activity; Work-to-family conflicts; income relation of partner; employment history status/scope; unemployment experience; start of current unemployment (month, year, quarter); employment intention partner; current

    Eosinophilic esophagitis: What can we learn from Crohn’s disease?

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    Eosinophilic esophagitis (EoE) is an emerging esophageal inflammatory disorder affecting children and young adults. As a relatively new disease, EoE is still burdened by frequent diagnostic and therapeutic pitfalls in clinical practice. This manuscript posits a number of similarities with Crohn’s disease, which may help optimize EoE patient management. Commonalities include epidemiologic trends (Westernized diseases, rising incidence, early-life risk factors), diagnostic considerations (symptoms are poor predictors of disease activity, difficulties in disease activity assessment) and therapeutic issues (similar natural history and therapeutic goals, induction and maintenance phases, combination of drug and endoscopic treatment, potential drug interchangeability, long-term unsolved issues). Physicians devoted to EoE should learn from the extraordinary achievements fulfilled in Crohn’s disease: increased disease awareness, multidisciplinary specialized clinics, structured childhood and transition programs, and an ongoing roadmap for personalized treatments, including genetic susceptibility, risk factors for progression, genotype-phenotype correlation, drug monitoring and microbial data
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