664 research outputs found

    Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

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    Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

    Development of a complex intervention to test the effectiveness of peer support in type 2 diabetes

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    BACKGROUND: Diabetes is a chronic illness which requires the individual to assume responsibility for their own care with the aim of maintaining glucose and blood pressure levels as close to normal as possible. Traditionally self management training for diabetes has been delivered in a didactic setting. In recent times alternatives to the traditional delivery of diabetes care have been investigated, for example, the concept of peer support which emphasises patient rather than professional domination. The aim of this paper is to describe the development of a complex intervention of peer support in type 2 diabetes for a randomised control trial in a primary care setting. METHODS: The Medical Research Council (MRC) framework for the development and evaluation of complex interventions for randomised control trials (RCT) was used as a theoretical guide to designing the intervention. The first three phases (Preclinical Phase, Phase 1, Phase 2) of this framework were examined in depth. The Preclinical Phase included a review of the literature relating to type 2 diabetes and peer support. In Phase 1 the theoretical background and qualitative data from 4 focus groups were combined to define the main components of the intervention. The preliminary intervention was conducted in Phase 2. This was a pilot study conducted in two general practices and amongst 24 patients and 4 peer supporters. Focus groups and semi structured interviews were conducted to collect additional qualitative data to inform the development of the intervention. RESULTS: The four components of the intervention were identified from the Preclinical Phase and Phase 1. They are: 1. Peer supporters; 2. Peer supporter training; 3. Retention and support for peer supporters; 4. Peer support meetings. The preliminary intervention was implemented in the Phase 2. Findings from this phase allowed further modeling of the intervention, to produce the definitive intervention. CONCLUSION: The MRC framework was instrumental in the development of a robust intervention of peer support of type 2 diabetes in primary care. TRIAL REGISTRATION: Current Controlled Trials ISRCTN42541690

    Longevity improvement of optically activated, high gain GaAs photoconductive semiconductor switches

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    The longevity of high gain GaAs photoconductive semiconductor switches (PCSS) has been extended to over 100 million pulses at 23A, and over 100 pulses at 1kA. This is achieved by improving the ohmic contacts by doping the semi-insulating GaAs underneath the metal, and by achieving a more uniform distribution of contact wear across the entire switch by distributing the trigger light to form multiple filaments. This paper will compare various approaches to doping the contacts, including ion implantation, thermal diffusion, and epitaxial growth. The device characterization also includes examination of the filament behavior using open-shutter, infra-red imaging during high gain switching. These techniques provide information on the filament carrier densities as well as the influence that the different contact structures and trigger light distributions have on the distribution of the current in the devices. This information is guiding the continuing refinement of contact structures and geometries for further improvements in switch longevity

    Quality of life and quality-adjusted survival (Q-TWiST) in patients receiving dose-intensive or standard dose chemotherapy for high-risk primary breast cancer

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    Quality of life (QL) is an important consideration when comparing adjuvant therapies for early breast cancer, especially if they differ substantially in toxicity. We evaluated QL and Q-TWiST among patients randomised to adjuvant dose-intensive epirubicin and cyclophosphamide administered with filgrastim and progenitor cell support (DI-EC) or standard-dose anthracycline-based chemotherapy (SD-CT). We estimated the duration of chemotherapy toxicity (TOX), time without disease symptoms and toxicity (TWiST), and time following relapse (REL). Patients scored QL indicators. Mean durations for the three transition times were weighted with patient reported utilities to obtain mean Q-TWiST. Patients receiving DI-EC reported worse QL during TOX, especially treatment burden (month 3: P<0.01), but a faster recovery 3 months following chemotherapy than patients receiving SD-CT, for example, less coping effort (P<0.01). Average Q-TWiST was 1.8 months longer for patients receiving DI-EC (95% CI, −2.5 to 6.1). Q-TWiST favoured DI-EC for most values of utilities attached to TOX and REL. Despite greater initial toxicity, quality-adjusted survival was similar or better with dose-intensive treatment as compared to standard treatment. Thus, QL considerations should not be prohibitive if future intensive therapies show superior efficacy

    Life Satisfaction and Sense of Coherence of Breast Cancer Survivors Compared to Women with Mental Depression, Arterial Hypertension and Healthy Controls

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    The purpose of the study was to compare the life satisfaction (LS) and sense of coherence (SOC) of women recovering from breast cancer (BC) to LS and SOC of women with depression or hypertension and of healthy controls. Finnish Health and Social Support (HeSSup) follow-up survey data in 2003 was linked with national health registries. BC patients were followed up for mortality until the end of 2012. The statistical computations were carried out with SAS (R). There were no significant differences in LS and SOC between the groups with BC, arterial hypertension or healthy controls. Women recovering from BC are as satisfied with their life as healthy controls, and their perceived LS is better and SOC is stronger compared to women with depression. SOC correlated positively (r(2) = 0.36, p <0.001) with LS. However, more studies on determinants of the LS are needed for designing and organizing health care services for BC survivors.Peer reviewe

    Personality, posttraumatic stress and trauma type: factors contributing to posttraumatic growth and its domains in a Turkish community sample

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    Background: Posttraumatic growth (PTG) is conceptualized as a positive transformation resulting from coping with and processing traumatic life events. This study examined the contributory roles of personality traits, posttraumatic stress (PTS) severity and their interactions on PTG and its domains, as assessed with the Posttraumatic Growth Inventory Turkish form (PTGI-T). The study also examined the differences in PTG domains between survivors of accidents, natural disasters and unexpected loss of a loved one. Methods: The Basic Personality Traits Inventory, Posttraumatic Diagnostic Scale, and PTGI-T were administered to a large stratified cluster community sample of 969 Turkish adults in their home settings. Results: The results showed that conscientiousness, agreeableness, and openness to experience significantly related to the total PTG and most of the domains. The effects of extraversion, neuroticism and openness to experience were moderated by the PTS severity for some domains. PTG in relating to others and appreciation of life domains was lower for the bereaved group. Conclusion: Further research should examine the mediating role of coping between personality and PTG using a longitudinal design
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