Leistung, ästhetische Urteilskriterien und Wettbewerb in Sport und Musik

Leistung und Wettbewerb sind grundlegende Merkmale der Tätigkeit professioneller Athleten und Musiker. Die Beurteilung von sportlicher oder musikalischer Leistung im Wettbewerb un- terliegt messbaren und nicht messbaren Kriterien. Die nicht messbaren ästhetischen Urteilskri- terien gründen auf affektiven Merkmalen und sind in einen subjektiven Bezugsrahmen einge- gliedert, der sich an sozialen Normen und Einstellungen orientiert und weiterentwickelt. In der vorliegenden kumulativen Dissertation werden auf der Basis dreier Forschungsarbeiten die Zusammenhänge zwischen Leistung, ästhetischen Urteilskriterien und Wettbewerb in ver- schiedenen Entwicklungsstadien untersucht. Bezugnehmend auf drei zentrale Forschungsfra- gen wird erarbeitet, welche subjektiven Kriterien der Selbstbeurteilung von (Best-)Leistung zu- grunde liegen, inwiefern ästhetische Urteilskriterien in der Selbst- und Fremdbeurteilung das Leistungshandeln von Athleten und Musikern beeinflussen und inwieweit Beurteilungspro- zesse und selbstregulative Kompetenzen das Abrufen von Leistung in Wettbewerbssituatio- nen bedingen. Die Ergebnisse zeigen, dass die Entwicklung des subjektiven Bezugsrahmens der Leistungsbeurteilung mit Hilfe der Bewusstmachung ästhetischer Urteilsmerkmale beein- flusst werden kann und auf körperlichen, sozialen, mentalen und situativen Determinanten ba- siert. Aufgrund unterschiedlicher Interpretationen der Kriterien kommt es bei Athleten und Mu- sikern zu unterschiedlichen Beurteilungen in Selbst- und Fremdeinschätzung, die das Errei- chen von Bestleistung beeinträchtigen können. Zudem wird gezeigt, dass selbstregulative Kompetenzen das Abrufen von Leistung im Wettbewerb sowie die Selbstbeurteilung beein- flussen. Gleiches gilt für die dispositionelle Handlungs- und Lageorientierung, wobei dies nur für die Selbstbeurteilung, aber nicht für die Fremdbeurteilung von Leistung gilt

Evaluation of single-nucleotide polymorphism imputation using random forests

Genome-wide association studies (GWAS) have helped to reveal genetic mechanisms of complex diseases. Although commonly used genotyping technology enables us to determine up to a million single-nucleotide polymorphisms (SNPs), causative variants are typically not genotyped directly. A favored approach to increase the power of genome-wide association studies is to impute the untyped SNPs using more complete genotype data of a reference population

ACPA: automated cluster plot analysis of genotype data

Genome-wide association studies have become standard in genetic epidemiology. Analyzing hundreds of thousands of markers simultaneously imposes some challenges for statisticians. One issue is the problem of multiplicity, which has been compared with the search for the needle in a haystack. To reduce the number of false-positive findings, a number of quality filters such as exclusion of single-nucleotide polymorphisms (SNPs) with a high missing fraction are employed. Another filter is exclusion of SNPs for which the calling algorithm had difficulties in assigning the genotypes. The only way to do this is the visual inspection of the cluster plots, also termed signal intensity plots, but this approach is often neglected. We developed an algorithm ACPA (automated cluster plot analysis), which performs this task automatically for autosomal SNPs. It is based on counting samples that lie too close to the cluster of a different genotype; SNPs are excluded when a certain threshold is exceeded. We evaluated ACPA using 1,000 randomly selected quality controlled SNPs from the Framingham Heart Study data that were provided for the Genetic Analysis Workshop 16. We compared the decision of ACPA with the decision made by two independent readers. We achieved a sensitivity of 88% (95% CI: 81%-93%) and a specificity of 86% (95% CI: 83%-89%). In a screening setting in which one aims at not losing any good SNP, we achieved 99% (95% CI: 98%-100%) specificity and still detected every second low-quality SNP

EF hand-mediated Ca2+- and cGMP-signaling in photoreceptor synaptic terminals

Photoreceptors, the light-sensitive receptor neurons of the retina, receive and transmit a plethora of visual informations from the surrounding world. Photoreceptors capture light and convert this energy into electrical signals that are conveyed to the inner retina. For synaptic communication with the inner retina, photoreceptors make large active zones that are marked by synaptic ribbons. These unique synapses support continuous vesicle exocytosis that is modulated by light-induced, graded changes of membrane potential. Synaptic transmission can be adjusted in an activity-dependent manner, and at the synaptic ribbons, Ca2+- and cGMP-dependent processes appear to play a central role. EF-hand-containing proteins mediate many of these Ca2+- and cGMP-dependent functions. Since continuous signaling of photoreceptors appears to be prone to malfunction, disturbances of Ca2+- and cGMP-mediated signaling in photoreceptors can lead to visual defects, retinal degeneration (rd), and even blindness. This review summarizes aspects of signal transmission at the photoreceptor presynaptic terminals that involve EF-hand-containing Ca2+-binding proteins

Genetic association studies for gene expressions: permutation-based mutual information in a comparison with standard ANOVA and as a novel approach for feature selection

Mutual information (MI) is a robust nonparametric statistical approach for identifying associations between genotypes and gene expression levels. Using the data of Problem 1 provided for the Genetic Analysis Workshop 15, we first compared a quantitative MI (Tsalenko et al. 2006 J Bioinform Comput Biol 4:259–4) with the standard analysis of variance (ANOVA) and the nonparametric Kruskal-Wallis (KW) test. We then proposed a novel feature selection approach using MI in a classification scenario to address the small n - large p problem and compared it with a feature selection that relies on an asymptotic χ2 distribution. In both applications, we used a permutation-based approach for evaluating the significance of MI. Substantial discrepancies in significance were observed between MI, ANOVA, and KW that can be explained by different empirical distributions of the data. In contrast to ANOVA and KW, MI detects shifts in location when the data are non-normally distributed, skewed, or contaminated with outliers. ANOVA but not MI is often significant if one genotype with a small frequency had a remarkable difference in the average gene expression level relative to the other two genotypes. MI depends on genotype frequencies and cannot detect these differences. In the classification scenario, we show that our novel approach for feature selection identifies a smaller list of markers with higher accuracy compared to the standard method. In conclusion, permutation-based MI approaches provide reliable and flexible statistical frameworks which seem to be well suited for data that are non-normal, skewed, or have an otherwise peculiar distribution. They merit further methodological investigation

Cystic fibrosis (CF) care through the patients' eyes – A nationwide survey on experience and satisfaction with services using a disease-specific questionnaire

SummaryThe patients' perspective is an important aspect of quality management. A newly developed disease-specific questionnaire was used to assess the patients' experiences with care provided in specialised cystic fibrosis (CF) care centres.Methods90 CF centres in Germany were invited to participate. Centre staff collected patient consent forms and sent the patients' addresses to the study centre. The questionnaires for adults and parents had 100 and 104 items respectively, with 3–6 response categories each. Items were dichotomised into “problem scores” (PS), indicating the presence or absence (PS 0%) of a reported problem.Results56 CF centres took part in the survey and recruited 1642 adults with CF and 1205 parents. The response rates were 74% in each group, with 1221 completed questionnaires from adults and 891 from parents. Participants reported good experiences with care. Factor analysis revealed 10 factors covering 70 items. Participants reported the best results for the factors “Physiotherapists” (PS 6%) and “Physician–Patient Relationship” (PS 9%). Factors with the highest problem scores were inpatient and outpatient “Facilities, Hygiene and Services”. CF centres received reports of their own results and mean problem scores of all participating institutions. The problem scores differed considerably between CF centres.ConclusionsThe nation-wide CF-specific patient experience survey identified specific shortcomings which were mainly related to communication, centre organisation, and facilities. Centre staff can use the results to improve the quality of care. We suggest that patients' views should become an integral component of efforts to promote patient-centred care