1,721,241 research outputs found
Epidemiology of myotonic dystrophy in the molecular era: Implications for clinical trials and association studies
No full textIt is generally accepted that myotonic dystrophy (DM) as a whole is the most common type of muscular dystrophy among adult Caucasians. However, quite surprisingly, epidemiological studies on DM have been scarce, often incomplete and almost exclusively focused on myotonic dystrophy type 1 (DM1). Recent prevalence estimates of molecularly defined DM1 vary between 0.43 and 158 per 100,000 in different populations. Such a wide spanning range is the result of a very low prevalence rate among East-Asians as opposed to exceptionally high rates, due to founder effects, encountered in some inbred populations of European origin. However, prevalence rates among most Caucasian populations lie in between those extremes, whereas this disease is virtually absent in other ethnic groups. Such an uneven distribution of DM1 between distinct populations has no parallels in other muscular dystrophies. It can be explained by the fact that Caucasians more frequently harbor normal alleles at the high end of the CTG repeat size range within the Dmpk gene. These pre-mutated alleles, being highly unstable, represent a pool from which, after further expansion, new pathogenic DM1 mutations arise. The ethnic distribution of DM2 is even more selective, being exclusive, with a single exception, of Caucasian populations. Due to its recent characterization and difficulty in clinical and molecular diagnosis, there are only a few prevalence studies of DM2, indicating a minimum prevalence of 1/100,000. However, in some geographic areas, DM2 mutation may be as frequent as DM1. The ethnic distribution of DM1 and DM2 has suggested that the causative mutations may have arisen in Eurasian populations after their migration from Africa. A possible development of prevalence studies in the general population is the creation of disease registries that will allow to design studies on natural history of disease and to enroll representative patient cohorts for clinical trials. An additional utilization of a DM patient registry may be that of matching information with other disease registries for association studies, as recently proposed for DM and some types of cancer
Transcranial direct current stimulation as a therapeutic opportunity in PSP
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Migration and dementia in Europe: Towards a culturally competent approach and provision of care
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Job strain, hypoxia and risk of amyotrophic lateral sclerosis: Results from a death certificate study
No full textAmyotrophic lateral sclerosis (ALS) most likely results from a multifactorial gene-environment interaction. Strenuous physical activity and occupational exposures have been suggested to play a role, and an abnormal response to hypoxia has been proposed in ALS pathogenesis. To test the hypothesis of an excess risk in occupations typically leading to intermittent hypoxia at the tissue level, we accessed a large publicly available database, including death certificates from 24 U.S. states in 1984-1998. We conducted a case-control analysis of 14,628 deaths due to ALS therein reported and 58,512 controls deceased from other selected causes of death, frequency matched by age, gender and broad geographic area. ALS risk associated with physical activity, and occupations leading to intermittent hypoxia, such as fire fighters and professional athletes, were calculated with unconditional logistic regression, adjusting by age, marital status, residence, and socioeconomic status. Physical activity in general did not show an association with ALS risk. Risk associated with occupation as a professional athlete was elevated (OR = 1.81, 99% CI 0.69-4.78), but not significantly so. Fire fighters showed a significant two-fold excess ALS risk (OR = 2.0; 99% CI 1.2-3.2). Based on our findings and the current clinical, epidemiological and experimental evidence, we suggest that occupational conditions typically leading to intermittent hypoxia, such as fire fighting, might be an ALS risk factor in subjects genetically prone to an abnormal response to hypoxia
Rehabilitation effects in patients with total hip replacement: A systematic review and meta-analysis
Full text linkINTRODUCTION: Assess effectiveness and times of total hip replacement rehabilitation treatment through a systematic review with meta-analysis EVIDENCE ACQUISITION: Bibliographical research has been made with the following search engines: PubMed, Pedro and Cinalh. For pool analysis evaluation, it has been used the standardized mean difference (SMD). Heterogeneity between studies had been controlled through the I2 test. EVIDENCE SYNTHESIS: Fourteen of those studies have met the inclusion criteria. These have been divided into three different groups to assess different aspects of THR patient rehabilitation program: a rehabilitation path ' entirely made and supervised by a physiotherapist ' has been compared with an unsupervised one; an intensive rehabilitation path has been compared with a standard one and the early beginning of the treatment has been compared with a standard one. CONCLUSIONS: considering the great rise of THR surgeries, is important to minimize costs and logistic efforts for the postoperative rehabilitation program ensuring identical or better outcomes. Thinking of that and of RCTs data it seems evident that, while recognizing physiotherapist as a key element of the rehabilitation program, postoperative treatment should focus on an unsupervised rehabilitation program after a first period of a supervised intensive rehabilitation program
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