No abstract

The aim of this study was to determine the effectiveness and safety of available treatment alternatives for degenerative ataxias (DA). We systematically reviewed studies that assess pharmacological, rehabilitative, or psychological treatments in patients with DA. Studies were included if they fulfilled prespecified criteria. All included clinical trials were scored for methodological quality. Main outcome measures were clinical status of neurological disorder, adverse events, and patient-based factors. Twenty-five studies were included. Most studies were of small sample sizes, wide age variations, and low scientific validity. Only one study gave information on physical rehabilitation and none on psychological therapy. The remaining 24 studies reported on the effects of different pharmacological treatments. Outcomes such as functional capacity and psychological functioning of patients were evaluated by few studies. Some evidence supports that 5-hydroxytryptophan is more effective than placebo improving neurological symptoms in patients with Friedreich ataxia (FA), olivopontocerebellar atrophy, or cerebellar atrophy. Idebenone is more effective than placebo for halting and reversing the hypertrophic cardiomyopathy associated with FA, but it seems unable to improve neurological semiology. Limited evidence for other therapies was found. No relevant side effects for drugs that shown some degree of effectiveness were reported. Availability of quality studies to evaluate the safety and efficacy of treatments for most DA is scarce. No valid information on the actual value of physical rehabilitation and psychological support as treatments for DA is available. Further investigations with improved trial designs are necessary.

Excess weight has a negative impact on HRQL, even for people without chronic diseases. A better understanding of the relationships between excess weight, its associated comorbidities, and HRQL may have important implications for the design and assessment of prevention and treatment strategies.

BackgroundA major challenge in updating clinical guidelines is to efficiently identify new, relevant evidence. We evaluated the efficiency and feasibility of two new approaches: the development of restrictive search strategies using PubMed Clinical Queries for MEDLINE and the use of the PLUS (McMaster Premium Literature Service) database.MethodsWe evaluated a random sample of recommendations from a national guideline development program and identified the references that would potentially trigger an update (key references) using an exhaustive approach.We designed restrictive search strategies using the minimum number of Medical Subject Headings (MeSH) terms and text words required from the original exhaustive search strategies and applying broad and narrow filters. We developed PLUS search strategies, matching Medical Subject Headings (MeSH) and Systematized Nomenclature of Medicine (SNOMED) terms with guideline topics. We compared the number of key references retrieved by these approaches with those retrieved by the exhaustive approach.ResultsThe restrictive approach retrieved 68.1 % fewer references than the exhaustive approach (12,486 versus 39,136), and identified 89.9 % (62/69) of key references and 88 % (22/25) of recommendation updates. The use of PLUS retrieved 88.5 % fewer references than the exhaustive approach (4,486 versus 39,136) and identified substantially fewer key references (18/69, 26.1 %) and fewer recommendation updates (10/25, 40 %).ConclusionsThe proposed restrictive approach is a highly efficient and feasible method to identify new evidence that triggers a recommendation update. Searching only in the PLUS database proved to be a suboptimal approach and suggests the need for topic-specific tailoring.Electronic supplementary materialThe online version of this article (doi:10.1186/s12874-015-0058-2) contains supplementary material, which is available to authorized users.

The hereditary retinal dystrophies (HRDs) are a group of genetically determined disorders that result in loss of the visual function.