The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC)

The FRAXA and FRAXE alleles of the FMR1 and FMR2 genes located on the X chromosome contain varying numbers of trinucleotide repeats. Large numbers of repeats at FRAXA (full mutations) manifest as Fragile X syndrome, associated with mental impairment that affects males more severely. In this paper, we present the dataset of frequencies of FRAXA and FRAXE repeat size extracted from DNA samples collected from boys enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC). DNA data were extracted from samples collected in ALSPAC clinics from several types of samples: cord blood, venepuncture blood taken at 43 months, 61 months, seven years or nine years. The DNA was amplified at FRAXA and FRAXE using fluorescent PCR in the Wessex Regional Genetics Laboratory, Salisbury District Hospital. The mean repeat size for FRAXA is 28.92 (S.D. 5.44), the median 30 and the range 8 to 68. There were particularly high numbers of boys with repeat sizes of 20 (10.67%) and 23 (7.35%). The mean repeat size for FRAXE is 17.41 (S.D. 3.94), with median of 16 and range of 0 to 61. There is a relatively high degree of variation of the FRAXA repeat size particularly and we suggest the extensive data available from the ALSPAC study opens up areas of research into understanding phenotypes associated with relatively unexplored repeat sizes. This could be particularly interesting for the lower repeat sizes occurring with high frequency at FRAXA in this population. As the data can be linked to exposures and phenotypes, it will provide a resource for researchers worldwide.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.This work was supported by the Wellcome Trust [102215], the ALSPAC core programme grant, and a Programme Grant awarded to Patricia Jacobs. The final cleaning and writing of this paper was undertaken using funds from the John Templeton Foundation [60828]. The UK Medical Research Council and Wellcome [102215] and the University of Bristol currently provide core support for ALSPAC. This publication is the work of the authors; Rosie Clark and Jean Golding will serve as guarantors for the contents of this paper. A comprehensive list of grants funding is available on the ALSPAC website (http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.published version, accepted version, submitted versio

Students with Disabilities in Dutch VET: An Exploratory Study

[Excerpt] The inclusion of persons with disabilities in general programmes of vocational training has been called for by the ILO in international labour standards over many years, including standards relating to Human Resources Development and disability-related standards. This call is taken up strongly in the UN Convention on the Rights of Persons with Disabilities which calls on States Parties to take appropriate steps to enable persons with disabilities to have effective access to general tertiary education, vocational and life-long learning without discrimination and on an equal basis with others, and to ensure that reasonable accommodation is provided to that effect. While many countries have expressed commitment to this vision of inclusive vocational training, progress has been limited, even in countries which have adopted policies to promote, and there has been limited analysis of the factors hindering the effective implementation of such policies. It was thus appropriate for the ILO to undertake this exploratory study, to seek to pinpoint elements of policy and practice that might need to be addressed, if these policies on inclusion are to make a difference to persons with disabilities seeking to develop their skills with a view to obtaining decent jobs. The issues identified in this study will hopefully contribute to the wider policy debate, particularly on the matter of instructor preparation for disability inclusion and on the impact of funding arrangements. It will also hopefully stimulate further research to establish whether the patterns identified here are general patterns to be found and tackled elsewhere

Development and evaluation of exercises in capitalization and punctuation for grade six

Thesis (M.A.)--Boston University, 1949. This item was digitized by the Internet Archive

The Effect of Retro-Cueing on an ERP Marker of VSTM Maintenance

Previous research has found that Contralateral Delay Activity (CDA) is correlated with the number of items maintained in Visual Short Term Memory from one visual field (VF) (Vogel & Machizawa, 2004). CDA is usually elicited by a to-be-remembered array after a prospective cue (pro-cue) signalling the relevant side of the visual display, and is interpreted as a putative electrophysiological signature of WM maintenance. Attention can also be directed to the contents of VSTM, after the presentation of a visual array, using a retroactive cue (retro-cue) (Nobre, Griffin, & Rao, 2008). Because retro-cueing directs attention within a memory trace, potentially reducing the load of items to be maintained, we hypothesised that this would significantly attenuate the CDA. Participants were initially presented with a spatial pro-cue which reduced the number of to-be-remembered items to one side. After a delay, a memory array of either four (low load) or eight (high load) items was displayed. A retro-cue then cued participants to one location within the relevant VF, further reducing the load of to-be-remembered items; or provided no information, requiring participants to hold all items in the relevant VF. At the end of the trial, participants performed a same/different judgement on a test stimulus. Retro-cues significantly improved VSTM performance. Unexpectedly, the CDA was found to be abolished by the presentation of both spatially predictive and neutral cues, independently of the VSTM load participants had to maintain

Widening participation in higher education

Higher education (HE) has the potential to be transformative: for individuals, local communities and for the wider society.[...

Equine nutrition: a preliminary investigation of feeding practices in equine veterinary hospitals in the USA

Nutrition plays an important role in equine rehabilitation, with contradictory approaches existing on correct nutritional management of patients. The preponderance of information related to nutrient requirements for horses was designed for healthy horses. Very little scientific research has been undertaken to determine specific recommendations for horses with health issues. This study provides a preliminary assessment of current feeding practices within equine hospitals in the USA. A survey was distributed to equine veterinary hospitals (n=115) and the response rate was 21%. The responses provided information on the demographics of equine veterinary professionals, facilities and equine patients, and current nutritional practices. A substantial number of hospitals housed 51 to 100 patients (30%) on a short-term basis of between 1 to 3 days (38%), treating a wide variety of conditions; several of which require strict dietary management (colic, laminitis and metabolic disorders). All facilities fed hay as the forage source and 9 (38%) provided pasture turnout. Only one facility fed forage only, the rest fed supplementary feeds: including complete feeds, pelleted feeds and cereal grains. Seven facilities (30%) fed all patients the same type of feed, but none fed patients the same amount of feed. Most facilities had specific nutritional protocols in place (79%); half had conducted feed analyses and half also consulted a nutritional advisor. As the first known study to investigate the nutritional management strategies of equine hospital environments, a clear need for further research and validation of results is required

Using robots to understand animal cognition

In recent years, robotic animals and humans have been used to answer a variety of questions related to behavior. In the case of animal behavior, these efforts have largely been in the field of behavioral ecology. They have proved to be a useful tool for this enterprise as they allow the presentation of naturalistic social stimuli whilst providing the experimenter with full control of the stimulus. In interactive experiments, the behavior of robots can be controlled in a manner that is impossible with real animals, making them ideal instruments for the study of social stimuli in animals. This paper provides an overview of the current state of the field and considers the impact that the use of robots could have on fundamental questions related to comparative psychology: namely, perception, spatial cognition, social cognition, and early cognitive development. We make the case that the use of robots to investigate these key areas could have an important impact on the field of animal cognition

Self-management abilities, physical health and depressive symptoms among patients with cardiovascular diseases, chronic obstructive pulmonary disease, and diabetes

AbstractObjectiveThis study aimed to identify the predictive role of direct resources (educational level and marital status) and self-management abilities on physical health and depressive symptoms in patients with cardiovascular diseases (CVD), diabetes, or chronic obstructive pulmonary disease (COPD).MethodsOur cross-sectional questionnaire-based study included 1570 CVD patients, 917 COPD patients, and 412 patients with diabetes.ResultsPhysical health and depressive symptoms of COPD patients was lower than those of CVD and diabetic patients. Correlation analyses indicated that self-management abilities were strong indicators for physical health and depressive symptoms (all p<0.001). This relationship was strongest for depressive symptoms. Self-management abilities were related to educational level in all groups (all p<0.001). Regression analyses revealed that self-management abilities were strong predictors of physical health and depressive symptoms in all three patient groups (all p<0.001).ConclusionThis research showed that self-management abilities are strong predictors of physical health and depressive symptoms.Practice implicationsInterventions that improve self-management abilities may counteract a decline in physical health and depressive symptoms. Such interventions may be important tools in the prevention of the loss of self-management abilities, because they may motivate people who are not yet experiencing serious problems

Is "disease management" the answer to our problems? No! Population health management and (disease) prevention require "management of overall well-being".

BACKGROUND: Disease management programs based on the chronic care model have achieved successful and long-term improvement in the quality of chronic care delivery and patients’ health behaviors and physical quality of life. However, such programs have not been able to maintain or improve broader self-management abilities or social well-being, which decline over time in chronically ill patients. Disease management efforts, population health management initiatives and innovative primary care solutions are still mainly focused on clinical and functional outcomes and health behaviors (e.g., smoking cessation, exercise, and diet) failing to address individuals’ overall quality of life and well-being. Individuals’ ability to achieve well-being can be assessed with great specificity through the application of social production function (SPF) theory. This theory asserts that people produce their own well-being by trying to optimize the achievement of instrumental goals (stimulation, comfort, status, behavioral confirmation, affection) that provide the means to achieve the larger, universal goals of physical and social well-being. DISCUSSION: A shift in focus from the management of physical function, disease limitations, and lifestyle behaviors alone to an approach that fosters self-management abilities such as self-efficacy and resource investment as well as overall quality of life, is urgently needed. Disease management interventions should be aimed at adequately addressing all difficulties chronically ill patients face in life, such as the effects of pain and fatigue on the ability to maintain a job and social life and to participate in activities promoting physical and social well-being. Patients’ ability to maintain engagement in stimulating work and social activities with the people who are important to them may be even more important than aspects of disease self-management such as blood pressure or glycemic control. Interventions should aim to make chronically ill patients capable of managing their own well-being and adequately addressing their needs in a broader sense. SUMMARY: So, is disease management the answer to our problems in the time of aging populations and increased prevalence of unhealthy lifestyles, chronic illnesses, and comorbidity? No! Effective (disease) prevention, disease management, patient-centered care, and high-quality chronic care and/or population health management calls for management of overall well-being