Lessons from the "Euro-Lupus Cohort"

The "Euro-Lupus Cohort" is composed by 1,000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium - the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The "Euro-Lupus Cohort" provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors.     

Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus

The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation. There is indeed a thrombotic tendency in patients with systemic lupus erythematosis (SLE) and it is not always associated with antiphospholipid antibodies. We aimed to determine the relationship between both factor V Leiden and prothrombin gene mutations and SLE. Using polymerase chain reaction (PCR) the factor V Leiden and prothrombin gene mutations were evaluated in 55 patients (20 children and 35 adults) with SLE. Although seven patients were found to have factor V Leiden mutation in the heterozygous state, two had the heterozygous G→A (20210) prothrombin gene mutation. Although one had these two mutations concurrently, these two patients did not have thrombosis. The factor V Leiden mutation frequency (12.7%) was higher than that of our general population (7.1%). On the other hand, seven of the patients with SLE had a thrombotic event. Although of these seven, four (57%) had factor V Leiden mutation, three (43%) had no mutation. Of 48 patients with no thrombotic history, only three had the factor V mutation (6.25%). The prevalence of the factor V Leiden mutation in SLE patients with and without thrombosis was significantly different by Fisher’s exact test (p<0.05). The risk of venous thrombosis in patients with factor V Leiden increased threefold compared to that in those without factor V Leiden mutation (odds ratio 20.1; CI 2.99–133.6). Although factor V Leiden mutation seems to play a role in the development of venous thrombosis in SLE, the development of thrombosis in SLE is multifactorial. Received: 1 August 2000 / Accepted: 9 March 2001     

Increase in soluble E-selectin level after PTCA and stent implantation: a potential marker of restenosis

BACKGROUND: E-Selectin is expressed only on activated endothelial cells, and may be used as a marker of endothelial activation. The relationship between soluble form of E-selectin (sE-selectin) and development of restenosis after balloon angioplasty (PTCA) is controversial, and there are no data for after stent implantation. We evaluated the role of serially measured sE-selectin levels in predicting the development of restenosis after PTCA and stent implantation. METHODS: In sixty-one patients with stable angina pectoris who underwent PTCA (n=20) or stent implantation (n=41), peripheral blood samples were taken just before (baseline), at 3 and at 24 h after the intervention. sE-Selectin levels were measured by ELISA. Coronary angiography was repeated at 4-6 months after the intervention, and > or =50% stenosis at the site of the intervention was regarded as restenosis. Levels and time course of sE-selectin after the intervention were compared in patients with and those without restenosis. RESULTS: sE-Selectin levels of the patients with and those without restenosis were similar at each of the three measurements, and significantly increased after the intervention both in the PTCA and stent groups (P<0.001 for both groups). Posthoc analysis showed that sE-selectin levels increased significantly at 3 h after PTCA (P=0.024) and stent implantation (P=0.018), and did not change thereafter in patients with restenosis. In the nonrestenotic group, sE-selectin did not change significantly in the 24 h following PTCA, however, a significant difference was observed only by comparing the values at baseline with those at 24 h after stent implantation (P=0.021). CONCLUSIONS: A substantial increase in sE-selectin levels early (at 3 h) after PTCA and stent implantation may predict development of restenosis.     

Compound muscle action potential and motor function in children with spinal muscular atrophy

Reliable outcome measures that reflect the underlying disease process and correlate with motor function in children with SMA are needed for clinical trials. Maximum ulnar compound muscle action potential (CMAP) data were collected at two visits over a 4–6‐week period in children with SMA types II and III, 2–17 years of age, at four academic centers. Primary functional outcome measures included the Modified Hammersmith Functional Motor Scale (MHFMS) and MHFMS‐Extend. CMAP negative peak amplitude and area showed excellent discrimination between the ambulatory and non‐ambulatory SMA cohorts (ROC = 0.88). CMAP had excellent test–retest reliability (ICC = 0.96–0.97, n = 64) and moderate to strong correlation with the MHFMS and MHFMS‐Extend (r = 0.61–0.73, n = 68, P < 0.001). Maximum ulnar CMAP amplitude and area is a feasible, valid, and reliable outcome measure for use in pediatric multicenter clinical trials in SMA. CMAP correlates well with motor function and has potential value as a relevant surrogate for disease status. Muscle Nerve, 2010     

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy−Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case-series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations.     

Transition to adult services for young people with disabilities: current evidence to guide future research

This article outlines the evidence upon which best practice guidelines for transition to adulthood for young people with physical and developmental disabilities were developed in Ontario, Canada, through consensus activities. Evidence was gathered from published and unpublished literature and focus groups with young people, parents, community members, service providers and policy makers across the province. The evidence was then synthesized and analyzed by an expert panel. Guidelines were developed in the areas of collaboration, capacity-building, information, education, and research. This article focuses on the findings of this project as they relate to transition services and care. These best practice guidelines for the transition to adulthood for young people with disabilities offer a starting point to encourage service providers to work collaboratively with young people, parents, communities, governments, and researchers. The evidence from this project supports a move away from purely service-driven models of transition to holistic, lifecourse/lifespan approaches. Recommendations for future study and collaborative knowledge dissemination are provided.     

Effects of isokinetic strength training on walking in persons with stroke: A double-blind controlled pilot study

Objectives: The goal most often stated by persons with stroke is improved walking function. The purpose of this study was to determine the effects of isokinetic strength training on walking performance, muscle strength, and health-related quality of life in survivors of chronic stroke. Methods: Twenty participants (age, 61.2 ± 8.4 years) with chronic stroke were randomized into 2 groups. The experimental group undertook maximal concentric isokinetic strength training, whereas the control group received passive range of motion of the paretic lower extremity 3 times a week for 6 weeks. The Kin-Com Isokinetic Dynamometer (Chattanooga Group Inc., TN) was used for both the strengthening and passive range of motion exercises. The Mann-Whitney U test was used to compare the changes in scores (postintervention minus baseline) between the control and experimental groups for a composite lower extremity strength score, walking speed (level-walking and stair-walking) and health-related quality of life measure (36-Item Short Form Health Survey [SF-36]). Results: Both the experimental and control groups increased their strength and walking speed postintervention; however, there were no differences in the changes in walking speed between the groups. There was a trend (P = .06) toward greater strength improvement in the experimental group compared with the control group. No changes in SF-36 scores were found in either group. Conclusions: Intervention aimed at increasing strength did not result in improvements in walking. The results of this study stress the importance of controlled clinical trials in determining the effect of specific treatment approaches. Strength training in conjunction with other task-related training may be indicated.     

Outcomes of coordinated and integrated interventions targeting frail elderly people: a systematic review of randomised controlled trials

The aim of this study was to review randomised controlled trials on integrated and coordinated interventions targeting frail elderly people living in the community, their outcome measurements and their effects on the client, the caregiver and healthcare utilisation. A literature search of PubMed, AgeLine, Cinahl and AMED was carried out with the following inclusion criteria: original article; integrated intervention including case management or equivalent coordinated organisation; frail elderly people living in the community; randomised controlled trials; in the English language, and published in refereed journals between 1997 and July 2007. The final review included nine articles, each describing one original integrated intervention study. Of these, one was from Italy, three from the USA and five from Canada. Seven studies reported at least one outcome measurement significantly in favour of the intervention, one reported no difference and one was in favour of the control. Five of the studies reported at least one outcome on client level in favour of the intervention. Only two studies reported caregiver outcomes, both in favour of the intervention for caregiver satisfaction, but with no effect on caregiver burden. Outcomes focusing on healthcare utilisation were significantly in favour of the intervention in five of the studies. Five of the studies used outcome measurements with unclear psychometric properties and four used disease-specific measurements. This review provides some evidence that integrated and coordinated care is beneficial for the population of frail elderly people and reduces health care utilisation. There is a lack of knowledge about how integrated and coordinated care affects the caregiver. This review pinpoints the importance of using valid outcome measurements and describing both the content and implementation of the intervention.