133 research outputs found

    Validation of an Estonian version of the Parkinson's Disease Questionnaire (PDQ-39)

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    <p>Abstract</p> <p>Introduction</p> <p>Diagnosis and management of Parkinson's disease (PD) rely heavily on evaluation of clinical symptoms and patients' subjective perception of their condition. The purpose of this study was to evaluate the validity, acceptability, and reliability of the Estonian version of the 39-question Parkinson 's disease Questionnaire (PDQ-39).</p> <p>Methods</p> <p>Study subjects were approached during their regular clinic follow-up visits. 104 patients consented to the study and 81 completed questionnaires were used for subsequent testing of psychometric characteristics, validity and reliability.</p> <p>Results</p> <p>The content validity was assessed through qualitative content analysis during the pilot study. The patients indicated that the questions were relevant to measure the quality of life of people with PD.</p> <p>The analysis of means showed that the ceiling and floor effects of domain results were within the limits of 15% of Summary Index and of all domains except Stigma, Social Support and Communication where the ceiling effect was 16% to 24% of the responses. Convergent validity was interpreted through correlation between disease severity and PDQ-39 domains. There was a statistically significant difference between the domain scores in patients with mild versus moderate PD in domains of Mobility, ADL, and Communication but not for Stigma, Social Support and Cognition. The reliability was good, Cronbach alpha for all domains and summary index was over 0.8 and item-test correlations between domains and summary index ranged from 0.56 to 0.83.</p> <p>Conclusion</p> <p>The psychometric characteristics of an Estonian version of the PDQ-39 were satisfactory. The results of this study were comparable to the results of previous validation studies in other cultural settings in UK, USA, Canada, Spain and Italy.</p> <p>The Estonian version of the PDQ-39 is an acceptable, valid and reliable instrument for quality of life measurement in PD patients.</p

    Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome

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    Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped using a newly available single nucleotide polymorphism (SNP) chip containing 56,402 discriminatory elements. The whole genome scan identified an associated region containing these two functional candidate genes. Exon sequencing of the MYO5A gene from an affected foal revealed a single base deletion in exon 30 that changes the reading frame and introduces a premature stop codon. A PCR–based Restriction Fragment Length Polymorphism (PCR–RFLP) assay was designed and used to investigate the frequency of the mutant gene. All affected horses tested were homozygous for this mutation. Heterozygous carriers were detected in high frequency in families segregating for this trait, and the frequency of carriers in unrelated Egyptian Arabians was 10.3%. The mapping and discovery of the LFS mutation represents the first successful use of whole-genome SNP scanning in the horse for any trait. The RFLP assay can be used to assist breeders in avoiding carrier-to-carrier matings and thus in preventing the birth of affected foals

    Loneliness in urban neighbourhoods: an Anglo-Dutch comparison

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    Past studies in the UK and the Netherlands indicate that loneliness varies significantly according to characteristics of older people’s residential environment. This raises questions regarding potential neighbourhood influences on individuals’ social relationships in later life. This article examines neighbourhood influences on loneliness, using multiple classification analysis on comparable empirical data collected in the UK and the Netherlands. UK data arise from a survey of 501 people aged 60+ in deprived neighbourhoods of three English cities. Netherlands data derive from the NESTOR Living Arrangements and Social Network survey, with a sub-sample of 3,508 people aged 60+ drawn from a nationally representative sample of older people, living in 11 municipalities. Both surveys incorporated the 11-item De Jong Gierveld Loneliness Scale. In addition to neighbourhood characteristics and indicators of health and social embeddedness, a typology of eight groups of persons was developed that accounted for individuals’ age, sex, and partner status. While 13% of participants in the UK were severely lonely, the proportion in the Netherlands was just four per cent. Mean loneliness scores in the UK varied significantly between the neighbourhoods under investigation. Additionally, the evaluated quality of the residential neighbourhood accounted for a relatively large degree of variance in loneliness in both countries. Keywords Loneliness Urban neighbourhoods Cross-national comparison England The Netherland

    The Ontario Mother and Infant Study (TOMIS) III: A multi-site cohort study of the impact of delivery method on health, service use, and costs of care in the first postpartum year

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    Abstract Background The caesarean section rate continues to rise globally. A caesarean section is inarguably the preferred method of delivery when there is good evidence that a vaginal delivery may unduly risk the health of a woman or her infant. Any decisions about delivery method in the absence of clear medical indication should be based on knowledge of outcomes associated with different childbirth methods. However, there is lack of sold evidence of the short-term and long-term risks and benefits of a planned caesarean delivery compared to a planned vaginal delivery. It also is important to consider the economic aspects of caesarean sections, but very little attention has been given to health care system costs that take into account services used by women for themselves and their infants following hospital discharge. Methods and design The Ontario Mother and Infant Study III is a prospective cohort study to examine relationships between method of delivery and maternal and infant health, service utilization, and cost of care at three time points during the year following postpartum hospital discharge. Over 2500 women were recruited from 11 hospitals across the province of Ontario, Canada, with data collection occurring between April 2006 and October 2008. Participants completed a self-report questionnaire in hospital and structured telephone interviews at 6 weeks, 6 months, and 12 months after discharge. Data will be analyzed using generalized estimating equation, a special generalized linear models technique. A qualitative descriptive component supplements the survey approach, with the goal of assisting in interpretation of data and providing explanations for trends in the findings. Discussion The findings can be incorporated into patient counselling and discussions about the advantages and disadvantages of different delivery methods, potentially leading to changes in preferences and practices. In addition, the findings will be useful to hospital- and community-based postpartum care providers, managers, and administrators in guiding risk assessment and early intervention strategies. Finally, the research findings can provide the basis for policy modification and implementation strategies to improve outcomes and reduce costs of care

    Stable Genetic Effects on Symptoms of Alcohol Abuse and Dependence from Adolescence into Early Adulthood

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    Relatively little is known about how genetic influences on alcohol abuse and dependence (AAD) change with age. We examined the change in influence of genetic and environmental factors which explain symptoms of AAD from adolescence into early adulthood. Symptoms of AAD were assessed using the four AAD screening questions of the CAGE inventory. Data were obtained up to six times by self-report questionnaires for 8,398 twins from the Netherlands Twin Register aged between 15 and 32 years. Longitudinal genetic simplex modeling was performed with Mx. Results showed that shared environmental influences were present for age 15–17 (57%) and age 18–20 (18%). Unique environmental influences gained importance over time, contributing 15% of the variance at age 15–17 and 48% at age 30–32. At younger ages, unique environmental influences were largely age-specific, while at later ages, age-specific influences became less important. Genetic influences on AAD symptoms over age could be accounted for by one factor, with the relative influence of this factor differing across ages. Genetic influences increased from 28% at age 15–17 to 58% at age 21–23 and remained high in magnitude thereafter. These results are in line with a developmentally stable hypothesis that predicts that a single set of genetic risk factors acts on symptoms of AAD from adolescence into young adulthood

    The Impact of eHealth on the Quality and Safety of Health Care: A Systematic Overview

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    Aziz Sheikh and colleagues report the findings of their systematic overview that assessed the impact of eHealth solutions on the quality and safety of health care

    Multi-centre cluster randomised trial comparing a community group exercise programme with home based exercise with usual care for people aged 65 and over in primary care: protocol of the ProAct 65+trial

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    Background: Regular physical activity reduces the risk of mortality from all causes, with a powerful beneficial effect on risk of falls and hip fractures. However, physical activity levels are low in the older population and previous studies have demonstrated only modest, short-term improvements in activity levels with intervention.Design/Methods: Pragmatic 3 arm parallel design cluster controlled trial of class-based exercise (FAME), home-based exercise (OEP) and usual care amongst older people (aged 65 years and over) in primary care. The primary outcome is the achievement of recommended physical activity targets 12 months after cessation of intervention. Secondary outcomes include functional assessments, predictors of exercise adherence, the incidence of falls, fear of falling, quality of life and continuation of physical activity after intervention, over a two-year follow up. An economic evaluation including participant and NHS costs will be embedded in the clinical trial.Discussion: The ProAct65 trial will explore and evaluate the potential for increasing physical activity among older people recruited through general practice. The trial will be conducted in a relatively unselected population, and will address problems of selective recruitment, potentially low retention rates, variable quality of interventions and falls risk.Trial Registration: Trial Registration: ISRCTN4345377
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