Inspiratsioon kunstis ja meditsiinis

Eesti Arst 2012; 91(3):16

Püsiv vegetatiivne seisund

Püsiva vegetatiivse seisundi (persistent vegetative state, PVS) problemaatika on haiglale ja omastele eetiliselt raskem ning oma kulukuselt suurem kui ajusurma oma. Selle patofüsioloogia ei ole ka nii selgepiiriline. Näib, et PVS-sündroomis on kesksed kahjustused talamuses kui kognitiivse teabe vahendajas. Nüüdisaegsete diagnostiliste vahendite seas on positron-emissioon-tomograafia (PET) kõige tundlikum nende patoloogiliste muutuste suhtes, mis on eriomased PVSile. Eesti Arst 2003; 82 (1): 45–5

Safety and Clinical Efficacy of Mesenchymal Stem Cell Treatment in Traumatic Spinal Cord Injury, Multiple Sclerosis and Ischemic Stroke – A Systematic Review and Meta-Analysis

Background: Mesenchymal stem cells (MSCs) is an attractive candidate in regenerative research and clinical trials have assessed their therapeutic potential in different neurological conditions with disparate etiologies. In this systematic review, we aimed to assess safety and clinical effect of MSC treatment in traumatic spinal cord injury (TSCI), multiple sclerosis (MS) and ischemic stroke (IS). Methods: A systematic search was performed 2021-12-10 in MEDLINE, EMBASE, Web of Science and Cochrane where clinical studies assessing MSC treatment in TSCI, MS or IS were included. Studies without control group were excluded for efficacy analysis, but included in the safety analysis. For efficacy, AIS score, EDSS score and mRS were used as clinical endpoints and assessed in a meta-analysis using the random effects model. Findings: Of 5,548 identified records, 54 studies were included. Twenty-six studies assessed MSC treatment in TSCI, 14 in MS and nine in IS, of which seven, seven and five studies were controlled, respectively. There were seven serious adverse events (SAEs), of which four were related to the surgical procedure and included one death due to complications following the implantation of MSCs. Three SAEs were considered directly related to the MSC treatment and all these had a transient course. In TSCI, a meta-analysis showed no difference in conversion from AIS A to C and a trend toward more patients treated with MSCs improving from AIS A to B as compared to controls (p = 0.05). A subgroup analysis performed per protocol, showed more MSC treated patients improving from AIS A to C in studies including patients within 8 weeks after injury (p = 0.04). In MS and IS, there were no significant differences in clinical outcomes between MSC treated patients and controls as measured by EDSS and mRS, respectively. Interpretation: MSC-treatment is safe in patients with TSCI, MS and IS, although surgical implantation of MSC led to one fatal outcome in TSCI. There was no clear clinical benefit of MSC treatment, but this is not necessarily a proof of inefficacy due to the low number of controlled studies. Future studies assessing efficacy of MSC treatment should aim to do this in randomized, controlled studies.publishedVersio

Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately in 5% of sporadic ALS patients. In Norway, the contribution of genetic variants to ALS has not yet been studied. In light of the potential development of personalized medicine, knowledge of genetic causes of ALS in a population is becoming increasingly important. The present study provides clinical and genetic data on familial and sporadic ALS patients in a Norwegian population-based cohort. Methods: Blood samples and clinical information from ALS patients were obtained at all 17 neurological departments throughout Norway during a 2-year period. Genetic analysis of the samples involved expansion analysis of C9orf72 and exome sequencing targeting 30 known ALS-linked genes. The variants were classified using genotype-phenotype correlations and bioinformatics tools. Results: A total of 279 ALS patients were included in the study. Of these, 11.5% had one or several family members affected with ALS, whereas 88.5% had no known family history of ALS. A genetic cause of ALS was identified in 31 individuals (11.1%), among which 18 (58.1%) were familial and 13 (41.9%) were sporadic. The most common genetic cause was the C9orf72 expansion (6.8%), which was identified in 8 familial and 11 sporadic ALS patients. Pathogenic or likely pathogenic variants of SOD1 and TBK1 were identified in 10 familial and 2 sporadic cases. C9orf72 expansions dominated in patients from the Northern and Central regions, whereas SOD1 variants dominated in patients from the South-Eastern region. Conclusion: In the present study, we identified several pathogenic gene variants in both familial and sporadic ALS patients. Restricting genetic analysis to only familial cases would miss more than 40 percent of those with a disease-causing genetic variant, indicating the need for genetic analysis in sporadic cases as well.publishedVersio

Participation and autonomy, independence in activities of daily living and upper extremity functioning in individuals with spinal cord injury

Abstract Improvements in care and rehabilitation have resulted in a higher proportion of people living with spinal cord injury (SCI), which calls for an increased focus on participation and autonomy. This observational cross-sectional study investigated the impact of SCI on autonomy and how it correlates to activity performance and upper extremity functioning. A total of 25 adults (mean age 58 years) with chronic cervical or thoracic SCI were included. Self-perceived autonomy was measured with Impact on Participation and Autonomy questionnaire, independence in activities of daily living (ADL) with Spinal Cord Independence Measure, upper extremity functioning with Action Research Arm Test (ARAT) and kinematic measures of the drinking task. The results showed that most participants perceived injury-related restrictions in outdoor autonomy (80%), family role (76%), and in indoor autonomy (72%). Independence in self-care (r = 0.72), mobility (r = 0.59) and upper extremity kinematics of movement time (r = 0.63) and smoothness (r = 0.49) were correlated to indoors autonomy. Social life autonomy was correlated to self-care (r = 0.50) and ARAT (r = 0.41). In conclusion, autonomy was perceived restricted after SCI in several major life areas and correlated with independence in ADL and upper extremity functioning. The aspects of autonomy should be considered more in goal setting and clinical decision-making

Psychometric Properties of Cognitive Assessment in Amyotrophic Lateral Sclerosis: A Systematic Review

Purpose: We aimed to list all tests used to assess cognitive change in patients with amyotrophic lateral sclerosis (ALS) and to provide a descriptive synthesis of the psychometric properties of tests that were evaluated in a population of ALS patients. Materials and Methods: The protocol is registered in PROSPERO (ID: CRD42017055603). We systematically search for literature in 11 databases. Full-text articles, in any language, with original research were included. All included articles were scrutinised by two independent authors. Disagreement was resolved by consensus. The framework of Lezak informed conceptualises of the tests identified. To evaluate methodological quality, we used the Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN). Data were synthesised using criteria proposed by the Cochrane Back Review Group. Results: Of 319 included articles, 46 articles reported information on the psychometric properties of cognitive tests used in patients with ALS. We found that the highest level of evidence was supported for the Reading the Mind in the Eye Test (RME), Addenbrooke’s Cognitive Evaluation (ACE) and Frontal Assessment Battery (FAB). Moderate level of evidence was found for the screening tests; Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and the Montreal Cognitive Assessment (MoCA). Conclusion: The screening test, ECAS and the social cognition test, RME, may have some advantages over other tests that have been used for assessing cognitive change in ALS patients. Recommendations of ALS-specific tests with sound psychometric properties are urgently needed