A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild. However, the data available on interrupted DM1 patients and their phenotype are scarce. We studied 49 Spanish DM1 patients, whose clinical phenotype was evaluated in depth. Blood DNA was obtained and analyzed through triplet‐primed polymerase chain reaction (PCR), long PCR‐Southern blot, small pool PCR, AciI digestion, and sequencing. Five patients of our registry (10%), belonging to the same family, carried CCG interruptions at the 3’ end of the CTG expansion. Some of them presented atypical traits such as a very late onset of symptoms (>50 years) and a severe axial and proximal weakness requiring walking assistance. They also showed classic DM1 symptoms including cardiac and respiratory dysfunction, which were severe in some of them. Sizes and interrupted allele patterns were determined, and we found a contraction and an expansion in two intergenerational transmissions. Our study contributes to the observation that DM1 patients carrying interruptions present with atypical clinical features that can make DM1 diagnosis difficult, with a later than expected age of onset and a previously unreported aging‐related severe disease manifestation

The SITLESS project: Exercise referral schemes enhanced by self-management strategies to battle sedentary behaviour in older adults: Study protocol for a randomised controlled trial

Abstract Background Older adults are the fastest growing segment of the world‘s population. Recent evidence indicates that excessive sitting time is harmful to health, independent of meeting the recommended moderate to vigorous physical activity (PA) guidelines. The SITLESS project aims to determine whether exercise referral schemes (ERS) can be enhanced by self-management strategies (SMSs) to reduce sedentary behaviour (SB), increase PA and improve health, quality of life and function in the long term, as well as psychosocial outcomes in community-dwelling older European citizens from four countries, within a three-armed pragmatic randomised controlled trial, compared with ERS alone and also with general recommendations about PA. Methods A total of 1338 older adults will be included in this study, recruited from four European countries through different existing primary prevention pathways. Participants will be randomly allocated into an ERS of 16 weeks (32 sessions, 45–60 min per session), ERS enhanced by seven sessions of SMSs and four telephone prompts, or a control group. Outcomes will be assessed at baseline, month 4 (end of ERS intervention), month 16 (12 months post intervention) and month 22 (18 months post intervention). Primary outcomes will include measures of SB (time spent sedentary) and PA (counts per minute). Secondary outcomes will include muscle and physical function, health economics’ related outcomes, anthropometry, quality of life, social networks, anxiety and depressive symptoms, disability, fear of falling, executive function and fatigue. A process evaluation will be conducted throughout the trial. The full analysis set will follow an intention-to-treat principle and will include all randomised participants for whom a baseline assessment is conducted. The study hypothesis will be tested with mixed linear models with repeated measures, to assess changes in the main outcomes (SB and PA) over time (baseline to month 22) and between study arms. Discussion The findings of this study may help inform the design and implementation of more effective interventions to reduce SB and increase PA levels, and hence improve long-term health outcomes in the older adult population. SITLESS aims to support policy-makers in deciding how or whether ERS should be further implemented or restructured in order to increase its adherence, impact and cost-effectiveness. Trial registration ClinicalTrials.gov, NCT02629666 . Registered 19 November 2015

Challenging equality policies: The emerging LGBT perspective

The state members of the European Union have witnessed the emergence of equality policies which target discrimination on the grounds of sexual orientation and gender identity. These are usually based on the single issue model focusing exclusively on discrimination suffered by LGBT people, however there are other approaches to this issue which take into account the interaction of different axes of inequality, namely, the multiple and intersectional discrimination models. This article analyses the implications of these three models from a theoretical and empirical perspective, pointing out their respective advantages and disadvantages

Nutritional assessment of residents in long-term care facilities (LTCFS): recommendations of the task force on nutrition and ageing of the IAGG Europe region and the IANA

Unintentional weight loss and Undernutrition are major problems among older people living in Long-Term Care Facilities (LTCF). Undernutrition manifests in LTCF particularly as weight loss and low Body Mass Index (BMI) and is associated with increased morbidity and mortality as well as with functional decline. There are many factors associated with poor nutritional status and affecting protein-energy intake and/or energy expenditure. These include age of 85 years or older, low nutrient intake, loss of ability to eat independently, swallowing and chewing difficulties, becoming bed-ridden, pressure ulcers, history of hip fracture, dementia, depressive symptoms and suffering from two or more chronic illnesses. Nutritional evaluation is an essential part of the Comprehensive Geriatric Assessment (CGA). This evaluation ranges from methods such as BMI to several validated tools such as Mini-Nutritional Assessment (MNA). After diagnosis, the management of undernutrition in LTCF requires a multidisciplinary approach which may involve dietary and environmental improvements and managing multiple co-morbidities, while avoiding polypharmacy as far as possible. Finally, the need for supplementation or artificial (tube) feeding may be considered taking into account the CGA and individual needs. This document presents a succinct review and recommendations of evaluation and treatment of undernutrition

Exercise referral schemes enhanced by self-management strategies to reduce sedentary behaviour and increase physical activity among community-dwelling older adults from four European countries : Protocol for the process evaluation of the SITLESS randomised controlled trial

Introduction: SITLESS is a randomised controlled trial determining whether exercise referral schemes can be enhanced by self-management strategies to reduce sedentary behaviour and increase physical activity in the long term, in community-dwelling older citizens. The intervention is complex and requires a process evaluation to understand how implementation, causal mechanisms and context shape outcomes. The specific aims are to assess fidelity and reach of the implementation, understand the contextual aspects of each intervention site, evaluate the mechanisms of impact, and explore perceived effects. Methods and analysis: Following the Medical Research Council guidance on complex interventions, a combination of qualitative and quantitative procedures is applied, including observational checklists and attendance registries, standardised scales (ie, Marcus's Self-Efficacy Questionnaire, Physical Activity Self-Regulation Scale and the Lubben Social Network Scale) at baseline, postintervention and follow-up assessments, semistructured questionnaires gathering contextual characteristics, and participant observations of the sessions. Semistructured interviews and focus groups with the participants and trainers are conducted at postintervention and during the follow-up to explore their experiences. Outcomes from the standardised scales are analysed as moderators within the impact evaluation. Descriptive results on context and perceived effects complement results on impact. The qualitative and quantitative findings will help to refine the logic model to finally support the interpretation of the results on the effectiveness of the intervention. Ethics and dissemination: The study design was approved by the respective Ethical Committee of Ramon Llull University, Southern Denmark, Northern Ireland and Ulm University. Participation is voluntary, and all participants are asked to sign informed consent before starting the study. A dissemination plan operationalises how to achieve a social impact by reaching academic and non-academic stakeholders. A data management plan describes the specific data sets and regulates its deposition and curation. All publications will be open access