Ataxie - Was können wir in der Ergotherapie tun? : Positive Einflüsse auf die Betätigungsperformanz

Aus einer Ataxie resultieren zahlreiche Einschränkungen im Alltag und in der Lebensqualität der Betroffenen. Im Arbeitsfeld Neurologie weisen Menschen häufig eine Ataxie auf. Dennoch verfügt die Ergotherapie über wenig Evidenz zur Behandlung von Menschen mit einer Ataxie. Vorliegende Arbeit untersucht die Fragestellung, was die Betätigungsperformanz von Menschen mit einer Ataxie positiv beeinflusst. Zur Bearbeitung der Fragestellung wurde eine systematische Literaturrecherche durchgeführt. Daraus resultierten fünf ergo- und physiotherapeutische Hauptstudien, welche kritisch gewürdigt wurden. Anschliessend wurden die Resultate im Person- Environment-Occupation Model of Occupational Performance (PEO-Modell) eingeordnet und diskutiert. Mittels Anpassungen der Umwelt und Veränderungen der Betätigungsdurchführung wurde die Betätigungsperformanz von Menschen mit einer Ataxie verbessert. Zudem hatten intensive Therapien und Verhaltensveränderungen der Betroffenen einen positiven Einfluss auf ihre Betätigungsperformanz. Die Ergotherapie ist bei der Behandlung von Menschen mit einer Ataxie angezeigt und kann ihre Betätigungsperformanz positiv beeinflussen. Weitere Forschung ist im Bereich der Ergotherapie notwendig, um die Wirksamkeit und den Inhalt der Therapien zu untersuchen. Des Weiteren wäre eine Entwicklung von evidenzbasierten Richtlinien zur interprofessionellen Behandlung von Menschen mit einer Ataxie hilfreich

Intimate Partner Violence, Depression, and Anxiety Are Associated With Higher Perceived Stress Among Both Young Men and Women in Soweto and Durban, South Africa

Objectives: Psychological stress is an important determinant of health, including for mental well-being and sexual health. However, little is known about the prevalence and psychosocial and sexual health correlates of perceived stress among young people in South Africa, where elevated life-stressors are an important driver of health inequities. This study examines the association between intimate partner violence (IPV), psychosocial and sexual health, and perceived stress, by gender, among South African adolescents and young adults. Methods: Using baseline survey data from AYAZAZI, a cohort study enrolling youth (16–24 years) from Durban and Soweto, we used the 10-item Perceived Stress Scale (PSS-10) to measure the degree to which an individual perceives their life situations as unpredictable, uncontrollable, and overloaded. Possible scores range between 0 and 40; higher scores indicating higher perceived stress. Crude and adjusted gender-stratified linear regression models examined associations between sexual health factors, experiences (young women) and perpetration (young men) of IPV, anxiety (APA 3-item Scale, ≥2 = probable anxiety), and depression (10-item CES-D Scale, ≥10 = probable depression) and perceived stress. Multivariable models adjusted for age, income, sexual orientation, and financial dependents. Results: Of the 425 AYAZAZI participants, 60% were young women. At baseline, 71.5% were students//learners and 77.2% earned ≤ ZAR1600 per month (~id="mce_marker"00 USD). The PSS-10 had moderate reliability (α = 0.70 for young women, 0.64 for young men). Young women reported significantly higher mean PSS scores than young men [18.3 (6.3) vs. 16.4 (6.0)]. In adjusted linear regression models, among young women experiences of IPV (β = 4.33; 95% CI: 1.9, 6.8), probable depression (β = 6.63; 95% CI: 5.2, 8.1), and probable anxiety (β = 5.2; 95% CI: 3.6, 6.8) were significantly associated with higher PSS scores. Among young men, ever perpetrating IPV (β = 2.95; 95% CI: 0.3, 5.6), probable depression (β = 6; 95% CI: 4.3, 7.6), and probable anxiety (β = 3.9; 95% CI: 2.1, 5.8) were significantly associated with higher perceived stress. Conclusion: We found that probable depression, anxiety, perpetration of IPV among young men, and experiences of IPV among young women, were associated with higher perceived stress. Critical efforts are needed to address the gendered stressors of young men and women and implement services to address mental health within violence prevention efforts

Gender and Power Dynamics of Social Relationships Shape Willingness to Participate in Biomedical HIV Prevention Research Among South African Adolescents and Young Adults

Background: Understanding young women and men\u27s perceived barriers and facilitators to participation in biomedical HIV prevention research is important for designing youth friendly services (YFS) and acceptable technologies, which are necessary for preventing high sustained HIV incidence in South Africa. This study explores the multileveled barriers and facilitators to young men and women\u27s willingness to participate in hypothetical biomedical HIV prevention research.   Methods: Eight age- (16–18 and 19–24 years) and gender-stratified focus group discussions (FGDs) were conducted using semi-structured interview guides to explore young South African women and men\u27s willingness, perceived barriers, and facilitators to participating in biomedical HIV prevention research. FGD transcripts were uploaded to NVivo and coded collaboratively with youth study team members. Thematic analysis using Bronfenbrenner\u27s ecological model (individual, inter-personal, community, and societal) was used to guide a deductive coding procedure, which was documented and compared by gender.   Results: Thirty-one participants from Durban and 34 from Soweto participated in FGDs. Individual facilitators for participation were discussed more by young men and included financial incentives and altruism. Concerns about side-effects of biomedical products were a common barrier. Interpersonal relationships with peers, intimate partners and caregivers influenced young people\u27s willingness to participate in HIV prevention research, more so among young women. For young women, gendered power dynamics and distrust of intimate partners and parents influenced both communication regarding participation and willingness to participate in research that is often stigmatized, due to societal norms around women\u27s sexuality. On a societal level, participants expressed distrust in medical and research institutions, however a sense of community that was developed with the study staff of this project, was a motivator to participate in future studies.   Discussion: At each level of the ecological model, we found participants expressed gendered barriers and facilitators for participation. Gender norms as well as distrust of partners, parents, and health care professionals were key barriers that cut across all levels. At each level participants discussed facilitators that were youth-engaged, underscoring the need to implement YFS, establish trust and address gender inequities within future biomedical HIV prevention studies wishing to engage and retain South African youth

Meta-analysis of multidecadal biodiversity trends in Europe

Local biodiversity trends over time are likely to be decoupled from global trends, as local processes may compensate or counteract global change. We analyze 161 long-term biological time series (15-91 years) collected across Europe, using a comprehensive dataset comprising similar to 6,200 marine, freshwater and terrestrial taxa. We test whether (i) local long-term biodiversity trends are consistent among biogeoregions, realms and taxonomic groups, and (ii) changes in biodiversity correlate with regional climate and local conditions. Our results reveal that local trends of abundance, richness and diversity differ among biogeoregions, realms and taxonomic groups, demonstrating that biodiversity changes at local scale are often complex and cannot be easily generalized. However, we find increases in richness and abundance with increasing temperature and naturalness as well as a clear spatial pattern in changes in community composition (i.e. temporal taxonomic turnover) in most biogeoregions of Northern and Eastern Europe. The global biodiversity decline might conceal complex local and group-specific trends. Here the authors report a quantitative synthesis of longterm biodiversity trends across Europe, showing how, despite overall increase in biodiversity metric and stability in abundance, trends differ between regions, ecosystem types, and taxa.peerReviewe

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are often non-specific, and there is no definitive test for the accurate diagnosis of infection. The 'omics' approaches to identifying biomarkers from the host-response to bacterial infection are promising. In this study, lipidomic analysis was carried out with plasma samples obtained from febrile children with confirmed bacterial infection (n = 20) and confirmed viral infection (n = 20). We show for the first time that bacterial and viral infection produces distinct profile in the host lipidome. Some species of glycerophosphoinositol, sphingomyelin, lysophosphatidylcholine and cholesterol sulfate were higher in the confirmed virus infected group, while some species of fatty acids, glycerophosphocholine, glycerophosphoserine, lactosylceramide and bilirubin were lower in the confirmed virus infected group when compared with confirmed bacterial infected group. A combination of three lipids achieved an area under the receiver operating characteristic (ROC) curve of 0.911 (95% CI 0.81 to 0.98). This pilot study demonstrates the potential of metabolic biomarkers to assist clinicians in distinguishing bacterial from viral infection in febrile children, to facilitate effective clinical management and to the limit inappropriate use of antibiotics

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements