Search results for "report"
showing 10 items of 2364 documents
De novo mutation in a male patient with Fabry disease: a case report
2014
Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…
Development of a new measure for assessing insight: Psychometric properties of the insight orientation scale (IOS)
2015
Abstract Introduction Given the centrality of insight in promoting change, the relevance of measures for assessing this construct has become increasingly clear. This paper describes a new self-report measure for assessing some of the characteristics of insight, the insight orientation scale (IOS). Aims In study 1, we evaluated the factor structure and the reliability of the scale. In study 2, we analyzed the concurrent and discriminant validity of the scale in patients with different clinical diagnoses. Methods In study 1 participants were 600 individuals (41.1% male, 58.9% female) with a mean age of 33.95 years (SD = 13.04). In study 2 participants were 136 individuals divided into the fol…
Relationship between device acceptance and patient-reported outcomes in Left Ventricular Assist Device (LVAD) recipients
2019
AbstractThe number of Left Ventricular Assist Devices (LVADs) implanted each year is rising. Nevertheless, there are minimal data on device acceptance after LVAD implant, and on its relationship with patient-reported outcomes. We designed a cross-sectional study to address this knowledge gap and test the hypothesis that low device acceptance is associated with poorer quality of life, depression and anxiety. Self-report questionnaires were administered to assess quality of life (12-item Kansas City Cardiomyopathy Questionnaire quality of life subscale), level of anxiety (7-item Generalized Anxiety Disorder; GAD-7), level of depression (9-item Patient Health Questionnaire; PHQ-9) and device a…
Impact of quality of life related to foot problems : a case-control study
2021
AbstractFoot problems are highly prevalent conditions, being a frequent reason for medical and podiatric consultation. The aim of this study was to compare the differences of quality of life (QoL) related to foot health in people with and without the presence of foot problems. A case–control study was carried out in an outpatient centre, where a clinician recorded data related to sociodemographic and clinical characteristics. In addition, self-reported data on foot health-related quality of life were recorded using the Spanish version of the Foot Health Status Questionnaire. The sample consisted of 498 participants (249 cases and 249 controls), with a median age of 30 years and an interquar…
Bloating is associated with worse quality of life, treatment satisfaction, and treatment responsiveness among patients with constipation-predominant …
2016
Background The management of bloating is unclear and its relationship with patients' well-being and treatment satisfaction independent of other abdominal symptoms is uncharacterized. We evaluated the association of bloating with patient-reported outcomes. Methods Thirty-nine centers for functional gastrointestinal disorders joined the laxative inadequate relief survey. We enrolled 2203 consecutive outpatients with functional constipation (FC) or constipation-predominant irritable bowel syndrome (IBS-C) in two cross-sectional waves. Both wave 1 and 2 included the SF-12, the patient assessment of constipation-symptoms (PAC-SYM), and the treatment satisfaction questionnaire for medication (TSQ…
Ankylosing spondylitis in monozygotic twins: studies on immunological parameters
1999
OBJECTIVE—To examine immunological parameters that might explain disease discordance in monozygotic twin pairs with ankylosing spondylitis (AS). METHODS—11 monozygotic twin pairs (nine with AS, two with undifferentiated spondyloarthropathy) were investigated. The peripheral T cell receptor Vβ repertoire was investigated using FACS analysis and 14 different Vβ antibodies. In addition serum samples were tested for antibodies to Klebsiella pneumoniae, Streptococcus pyogenes, Candida albicans, Proteus mirabilis, and Escherichia coli. Peripheral blood lymphocyte reactivity against a number of bacteria was investigated by interferon γ ELISPOT assays. RESULTS—Twins suffering from AS showed cellula…
Efficacy and safety of rituximab treatment in early primary Sjögren's syndrome: a prospective, multi-center, follow-up study.
2013
Introduction Primary Sjögren’s syndrome (pSS) is an autoimmune disorder affecting exocrine glands; however, a subgroup of pSS patients experience systemic extra-glandular involvement leading to a worsening of disease prognosis. Current therapeutic options are mainly empiric and often translated by other autoimmune diseases. In the last few years growing evidence suggests that B-cell depletion by rituximab (RTX) is effective also in pSS. Patients with early active disease appear to be those who could benefit the most from RTX. The aim of this study was to investigate the efficacy and safety of RTX in comparison to disease modifying anti-rheumatic drugs (DMARDs) in early active pSS patients. …
Haematopoietic stem cell transplantation for vasculitis including Behçet's disease and polychondritis: a retrospective analysis of patients recorded …
2006
Objective: To evaluate the feasibility of haematopoietic stem cell transplantation (HSCT) in vasculitis. Methods: This is a retrospective analysis of patients who had received HSCT for vasculitic diseases and have been reported to the European League Against Rheumatism autoimmune disease or European Bone Marrow Transplantation ProMISe databases. Information about the disease and outcome was obtained by a questionnaire sent to the referring centres. Response of the disease to HSCT was defined as partial or complete responses according to the ability to reduce immunosuppression after HSCT. In addition, the Medline database was searched for reports on HSCT in patients with vasculitis. Results:…
Teachers’ experiences of adolescents’ pain in everyday life: a qualitative study
2015
Objectives More adolescents report pain now than previously. In Norway, episodic pain problems have been reported by 60% of children and adolescents aged 8–18 years, with 21% reporting duration of pain of more than 3 months. Since adolescents spend much time at school, the attitude and behaviour of teachers play important roles regarding the experience of pain felt by adolescents in everyday life. Yet research on how teachers perceive the pain experienced by adolescents in a school setting is limited. We therefore seek to gain insight to teachers’ classroom experiences with (1) adolescent's self-reported pain symptoms; (2) adolescents management of their pain and (3) how to help adolescents…
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
2013
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101−1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated…