179 research outputs found
Der Wandel des Interventionsstaates
In dem Beitrag wird der Wandel der Staatlichkeit in fĂŒnf Politikfeldern analysiert: in der Rechnungslegung, der Bildungspolitik, der Gesundheitspolitik, der Arbeitsmarktpolitik und innerhalb des Gesamtrahmens wohlfahrtsstaatlicher MaĂnahmen. Die vergleichende Analyse unterschiedlicher TĂ€tigkeitsfelder des Interventionsstaates belegt die weiterhin hohe Bedeutung der nationalstaatlichen Ebene. FĂŒr einen systematischen RĂŒckzug des Staates gibt es nur wenige Anhaltspunkte. Beispielsweise zeigt sich kein allgemeiner Trend eines stark verringerten Engagements des Staates in der direkten Finanzierung und Erbringung gesundheits- und sozialpolitischer Leistungen. Anhand der Rechnungslegung sowie der Sozial- und Gesundheitspolitik lĂ€sst sich allerdings belegen, dass sich der Korridor' fĂŒr staatliche Interventionen verengt. Der Rahmen möglicher Lösungen, die so unterschiedliche Formen wie die StĂ€rkung des Wettbewerbs in Gesundheitssystemen oder die Ausweitung der Kooperation in der Rechnungslegung annehmen können, scheint in höherem MaĂe vorgegeben zu sein. Gleichzeitig zeigt die Analyse der Bildungspolitik einen Trend in Richtung Internationalisierung, wĂ€hrend die Untersuchung von Arbeitsmarktreformen eine Aufgaben- und Verantwortungsverlagerung in Richtung dezentraler Politik erkennen lĂ€sst. Diese Prozesse stellen die nationalstaatliche Politik möglicherweise zukĂŒnftig vor sehr viel gröĂere Herausforderungen als Verschiebungen zwischen Staat, Markt und Gesellschaft.This contribution analyzes the transformation of statehood in five different policy fields: in accounting, education, health and labor market policy as well as in the overall framework of welfare measures. Analyzing and comparing different fields of action of the intervention state demonstrates the ongoing high importance of the national policy level. There are only few indications for a systematic withdrawal of the state. For example, health benefits as well as other social welfare benefits are still â more or less generously âfinanced and provided by the state. The analysis of accounting as well as of health and social policy demonstrate, however, that the âcorridorâ for state intervention is narrowing. The scope of possible solutions, such as the strengthening of competition within health systems or the broadening of cooperation within accounting, seems to be greatly predetermined. At the same time, a trend towards internationalization can be identified in education policy, while the analysis of labor market reforms demonstrates a shifting of tasks and responsibilities towards decentralized politics. In the future, these processes may present a much greater challenge than the shifting between state, market and society
Der Wandel des Interventionsstaates
In dem Beitrag wird der Wandel der Staatlichkeit in fĂŒnf Politikfeldern analysiert: in der Rechnungslegung, der Bildungspolitik, der Gesundheitspolitik, der Arbeitsmarktpolitik und innerhalb des Gesamtrahmens wohlfahrtsstaatlicher MaĂnahmen. Die vergleichende Analyse unterschiedlicher TĂ€tigkeitsfelder des Interventionsstaates belegt die weiterhin hohe Bedeutung der nationalstaatlichen Ebene. FĂŒr einen systematischen RĂŒckzug des Staates gibt es nur wenige Anhaltspunkte. Beispielsweise zeigt sich kein allgemeiner Trend eines stark verringerten Engagements des Staates in der direkten Finanzierung und Erbringung gesundheits- und sozialpolitischer Leistungen. Anhand der Rechnungslegung sowie der Sozial- und Gesundheitspolitik lĂ€sst sich allerdings belegen, dass sich der Korridor' fĂŒr staatliche Interventionen verengt. Der Rahmen möglicher Lösungen, die so unterschiedliche Formen wie die StĂ€rkung des Wettbewerbs in Gesundheitssystemen oder die Ausweitung der Kooperation in der Rechnungslegung annehmen können, scheint in höherem MaĂe vorgegeben zu sein. Gleichzeitig zeigt die Analyse der Bildungspolitik einen Trend in Richtung Internationalisierung, wĂ€hrend die Untersuchung von Arbeitsmarktreformen eine Aufgaben- und Verantwortungsverlagerung in Richtung dezentraler Politik erkennen lĂ€sst. Diese Prozesse stellen die nationalstaatliche Politik möglicherweise zukĂŒnftig vor sehr viel gröĂere Herausforderungen als Verschiebungen zwischen Staat, Markt und Gesellschaft. -- This contribution analyzes the transformation of statehood in five different policy fields: in accounting, education, health and labor market policy as well as in the overall framework of welfare measures. Analyzing and comparing different fields of action of the intervention state demonstrates the ongoing high importance of the national policy level. There are only few indications for a systematic withdrawal of the state. For example, health benefits as well as other social welfare benefits are still â more or less generously âfinanced and provided by the state. The analysis of accounting as well as of health and social policy demonstrate, however, that the âcorridorâ for state intervention is narrowing. The scope of possible solutions, such as the strengthening of competition within health systems or the broadening of cooperation within accounting, seems to be greatly predetermined. At the same time, a trend towards internationalization can be identified in education policy, while the analysis of labor market reforms demonstrates a shifting of tasks and responsibilities towards decentralized politics. In the future, these processes may present a much greater challenge than the shifting between state, market and society.
The Non-Coding Transcriptome of Prostate Cancer: Implications for Clinical Practice
Prostate cancer (PCa) is the most common type of cancer and the second leading cause of cancer-related death in men. Despite extensive research, the molecular mechanisms underlying PCa initiation and progression remain unclear, and there is increasing need of better biomarkers that can distinguish indolent from aggressive and life-threatening disease. With the advent of advanced genomic technologies in the last decade, it became apparent that the human genome encodes tens of thousands non-protein-coding RNAs (ncRNAs) with yet to be discovered function. It is clear now that the majority of ncRNAs exhibit highly specific expression patterns restricted to certain tissues and organs or developmental stages and that the expression of many ncRNAs is altered in disease and cancer, including cancer of the prostate. Such ncRNAs can serve as important biomarkers for PCa diagnosis, prognosis, or prediction of therapy response. In this review, we give an overview of the different types of ncRNAs and their function, describe ncRNAs relevant for the diagnosis and prognosis of PCa, and present emerging new aspects of ncRNA research that may contribute to the future utilization of ncRNAs as clinically useful therapeutic targets
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life
Infancy; Reverse phenotyping; Whole exome sequencingInfancia; Fenotipado inverso; SecuenciaciĂłn del exoma completoInfĂ ncia; Fenotipat invers; SeqĂŒenciaciĂł de l'exoma completIntroduction
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause of chronic kidney disease (CKD) and the need for kidney replacement therapy (KRT) in children. Although more than 60 genes are known to cause CAKUT if mutated, genetic etiology is detected, on average, in only 16% of unselected CAKUT cases, making genetic testing unproductive.
Methods
Whole exome sequencing (WES) was performed in 100 patients with CAKUT diagnosed in the first 1000 days of life with CKD stages 1 to 5D/T. Variants in 58 established CAKUT-associated genes were extracted, classified according to the American College of Medical Genetics and Genomics guidelines, and their translational value was assessed.
Results
In 25% of these mostly sporadic patients with CAKUT, a rare likely pathogenic or pathogenic variant was identified in 1 or 2 of 15 CAKUT-associated genes, including GATA3, HNF1B, LIFR, PAX2, SALL1, and TBC1D1. Of the 27 variants detected, 52% were loss-of-function and 18.5% de novo variants. The diagnostic yield was significantly higher in patients requiring KRT before 3 years of age (43%, odds ratio 2.95) and in patients with extrarenal features (41%, odds ratio 3.5) compared with patients lacking these criteria. Considering that all affected genes were previously associated with extrarenal complications, including treatable conditions, such as diabetes, hyperuricemia, hypomagnesemia, and hypoparathyroidism, the genetic diagnosis allowed preventive measures and/or early treatment in 25% of patients.
Conclusion
WES offers significant advantages for the diagnosis and management of patients with CAKUT diagnosed before 3 years of age, especially in patients who require KRT or have extrarenal anomalies.This work was supported by grants from the Else Kröner-Fresenius-Stiftung (2018_Kolleg.12, Clinician Scientist Program TITUS at Hannover Medical School to LW) and the Deutsche Forschungsgemeinschaft (MA 9606/1-1 to HM, and KO 5614/2-1 to AC and RGW)
A coachesâ perspective on the contribution of anthropometry, physical performance, and motor coordination in racquet sports
Differences and similarities between table tennis and other racquet sports exist, but are not well documented in the literature, in spite of the relevance for talent identification. In this study we aimed at identifying the key characteristics of table tennis in comparison with tennis and badminton based upon a survey in coaches. A total of 177 licensed coaches from all across the world and with diverse professional backgrounds completed a survey on anthropometric measures, physical performance, and motor coordination skills. On a scale from 1 to 10, coaches indicated to what extent a talent characteristic was important for their sport. MANOVA identified key differences as well as similarities between all three racquet sports and a subsequent discriminant analysis allocated coaches correctly for table tennis, tennis, and badminton 81.01%, 55.6%, and 71.4% respectively. Our results show that table tennis and other racquet sport coaches are well aware of differences between the racquet sports and also the importance and value of testing and assortment of skill components. These findings can assist coaches in future talent orientation and transfer in racquet sports
Spasmodic dysphonia, perceptual and acoustic analysis: presenting new diagnostic tools
In this article, we investigate whether (1) the IINFVo (Impression, Intelligibility, Noise, Fluency and Voicing) perceptual rating scale and (2) the AMPEX (Auditory Model Based Pitch Extractor) acoustical analysis are suitable for evaluating adductor spasmodic dysphonia (AdSD). Voice recordings of 12 patients were analysed. The inter-rater and intra-rater consistency showed highly significant correlations for the IINFVo rating scale, with the exception of the parameter Noise. AMPEX reliably analyses vowels (correlation between PUVF (percentage of frames with unreliable F0/voicing 0.748), running speech (correlation between PVF (percentage of voiced frames)/voicing 0.699) and syllables. Correlations between IINFVo and AMPEX range from 0.608 to 0.818, except for noise. This study indicates that IINFVo and AMPEX could be robust and complementary assessment tools for the evaluation of AdSD. Both the tools provide us with the valuable information about voice quality, stability of F0 (fundamental frequency) and specific dimensions controlling the transitions between voiced and unvoiced segments
Cover crop identity determines root fungal community and arbuscular mycorrhiza colonization in following main crops
Cover crops (CC) can promote nutrient retention and recycling for main crops yet may also promote soilborne pathogens or suppress beneficial root symbionts such as arbuscular mycorrhizal fungi (AMF). We investigated how root fungal communities of main crop are affected by preceding CC monocultures and mixtures and by main crop identity. We expected that AMF abundance and diversity in main crops are promoted by AM-host CC, and suppressed by non-AM-host CC, and that mixtures of CC species can promote beneficial and suppress pathogenic root fungi. Our full-factorial field experiment comprised crop rotation in sand soil with different CC treatments (monocultures of radish [AM non-host], ryegrass, clover, vetch [AM hosts], mixtures of radish + vetch, ryegrass + clover and fallow) and two main crops (oat and endive). At peak crop growth, we investigated the root fungal communities in the main crops using microscopy and high throughput sequencing (Illumina MiSeq). Cover crop identity was of prime importance and CC legacy overruled main crop identity in determining root fungal communities in main crops. Compared with fallow, CC with ryegrass increased AMF colonization and richness in both main crops and of non-AMF in oat. Legacies of ryegrass, ryegrass + clover and vetch resulted in distinct root fungal communities in the main crops, while the legacy of CC with radish were similar to the legacy of fallow. Root fungal community in crops after clover had highest abundance of representative fungal pathogens in contrast with the other CC treatments that resulted in fungal communities where pathogens were scarce. Oppositely to expected, CC mixtures did not enhance fungal symbionts or suppressed pathogens. Overall, fungal communities in roots of the main crops in our field experiment were determined by the preceding CC species in monoculture, rather than by the CC AMF preference or functional group. This research highlights that the choice of CC determines the root fungal community in main crop which may influence crop quality
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain âŒ8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD
Biomarkers of conversion to alpha-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder
Patients with isolated rapid-eye-movement sleep behaviour disorder (RBD) are commonly regarded as being in the early stages of a progressive neurodegenerative disease involving \u3b1-synuclein pathology, such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. Abnormal \u3b1-synuclein deposition occurs early in the neurodegenerative process across the central and peripheral nervous systems and might precede the appearance of motor symptoms and cognitive decline by several decades. These findings provide the rationale to develop reliable biomarkers that can better predict conversion to clinically manifest \u3b1-synucleinopathies. In addition, biomarkers of disease progression will be essential to monitor treatment response once disease-modifying therapies become available, and biomarkers of disease subtype will be essential to enable prediction of which subtype of \u3b1-synucleinopathy patients with isolated RBD might develop
Social and cultural factors underlying generational differences in overweight: a cross-sectional study among ethnic minorities in the Netherlands
<p>Abstract</p> <p>Background</p> <p>The prevalence of overweight appears to vary in people of first and second generation ethnic minority groups. Insight into the factors that underlie these weight differences might help in understanding the health transition that is taking place across generations following migration. We studied the role of social and cultural factors associated with generational differences in overweight among young Turkish and Moroccan men and women in the Netherlands.</p> <p>Methods</p> <p>Cross-sectional data were derived from the LASER-study in which information on health-related behaviour and socio-demographic factors, level of education, occupational status, acculturation (cultural orientation and social contacts), religious and migration-related factors was gathered among Turkish and Moroccan men (n = 334) and women (n = 339) aged 15-30 years. Participants were interviewed during a home visit. Overweight was defined as a Body Mass Index â„ 25 kg/m<sup>2</sup>. Using logistic regression analyses, we tested whether the measured social and cultural factors could explain differences in overweight between first and second generation ethnic groups.</p> <p>Results</p> <p>Second generation women were less often overweight than first generation women (21.8% and 45.0% respectively), but this association was no longer significant when adjusting for the socioeconomic position (i.e. higher level of education) of second generation women (Odds Ratio (OR) = 0.77, 95%, Confidence Interval (CI) 0.40-1.46). In men, we observed a reversed pattern: second generation men were more often overweight than first generation men (32.7% and 27.8%). This association (OR = 1.89, 95% CI 1.09-3.24) could not be explained by the social and cultural factors because none of these factors were associated with overweight among men.</p> <p>Conclusions</p> <p>The higher socio-economic position of second generation Turkish and Moroccan women may partly account for the lower prevalence of overweight in this group compared to first generation women. Further research is necessary to elucidate whether any postulated socio-biological or other processes are relevant to the opposite pattern of overweight among men.</p
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