Search for composite and exotic fermions at LEP 2

A search for unstable heavy fermions with the DELPHI detector at LEP is reported. Sequential and non-canonical leptons, as well as excited leptons and quarks, are considered. The data analysed correspond to an integrated luminosity of about 48 pb^{-1} at an e^+e^- centre-of-mass energy of 183 GeV and about 20 pb^{-1} equally shared between the centre-of-mass energies of 172 GeV and 161 GeV. The search for pair-produced new leptons establishes 95% confidence level mass limits in the region between 70 GeV/c^2 and 90 GeV/c^2, depending on the channel. The search for singly produced excited leptons and quarks establishes upper limits on the ratio of the coupling of the excited fermio

Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

Communicated by Jean-Claude Kaplan Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rodcone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth

A novel antiangiogenic and vascular normalization therapy targeted against human CD160 receptor

A monoclonal anti-CD160 antibody inhibits the growth of new vessels in pathological ocular and tumor neoangiogenesis but not in healthy tissues

Forschungskompetenz für die Praxis erlernen: Erfahrungen von Studierenden aus einem Studienprojekt

Im Studiengang Master of Science in Nursing werden Fertigkeiten und Kompetenzen vermittelt, die es unter anderem ermöglichen, als APN in der Praxis oder als wissenschaftliche Mitarbeiterin in einer Forschungsinstitution zu arbeiten. Am Beispiel eines Studienprojekts zum Thema Burnout wird Schritt für Schritt aufgezeigt, wie Studierende lernen, ein solches Forschungsprojekt anzugehen und durchzuführen

Acute exercise impairs social-cognitive abilities in children with Autism Spectrum Disorder

Background While children with Autism Spectrum Disorder show heterogeneous cognitive profiles, they share common deficits in social-cognitive abilities and executive function. Moderate endurance exercise is known to elicit changes in the psychophysiological state, which can translate into immediate, but transient benefits for both cognitive domains. However, the cognitive response of children with Autism Spectrum Disorder to acute exercise remains unclear. We addressed this research deficit by investigating the effects of a single endurance exercise session on face recognition abilities and affective response inhibition. Methods We recruited 30 children with Autism Spectrum Disorder aged 7 to 12 years from local clinicals in Basel, Switzerland and via social media. Using a randomized cross-over design, participants completed a moderately-intense, 20-min exercise session on a cycling ergometer and control condition, which involved sitting on the ergometer. We collected heart rate and ratings of perceived exertion during these sessions. Before and after the experimental conditions, participants completed two computerized cognitive tasks. During the Mooney Face Recognition task, they had to categorize stimuli into faces and objects. In the affective Go/NoGo task, participants were instructed to inhibit their response to either sad or happy faces and press a button to all other faces. Results The experimental manipulation was successful as a main effect of condition indicated a higher heart rate and rating of perceived exertion in the exercise compared to the control condition. With regard to cognitive performance, the repeated measures ANOVA revealed an interaction of time and condition for the Mooney Face Recognition task, indicating an increase in reaction time in the exercise compared to the control condition. In contrast, no interaction of time and condition was found for accuracy on this task as well as accuracy and reaction time on the affective Go/NoGo task. Conclusion In children with Autism Spectrum Disorder, a single exercise does not seem to benefit social-cognitive abilities and executive function temporarily. A short cycling bout rather impairs the ability to recognize faces, suggesting that the maintenance of supervised exercise demands a set of joint resources. As these results are in conflict with the well-documented benefit of acute exercise in healthy populations, the atypical cognitive response in children with Autism Spectrum Disorder indicates a moderating role of this neurodevelopmental condition

Inferior results of salvage arthrodesis after failed ankle replacement compared to primary arthrodesis

BACKGROUND: Up to now, there has been no evidence that salvage arthrodesis would perform inferior when compared with primary ankle arthrodesis. The purpose of this study was to compare their clinical and radiographic results. METHODS: A retrospective analysis was performed using 2 validated scores and assessment of radiographic union by comparing 23 patients who underwent salvage ankle arthrodesis (group SA = salvage arthrodesis) after failed total ankle replacement with 23 matched patients who received primary ankle arthrodesis (group PA = primary arthrodesis). The mean follow-up period was 38 (range 16-92) months in group SA and 56 (23-94) months in group PA. RESULTS: Complete union was achieved in 17 patients (74%) after a mean time of 50 (13- 114) weeks in group SA and in 16 patients (70%) after a mean time of 23 (10-115) weeks in group PA. The SF-36 score averaged 48 points (7-80) in SA and 66 points (14-94; P = .006) in group PA. In group SA the mean FFI was 57% (22-82) for pain and 71% (44-98) for function. In group PA significantly better results for pain with 34% (0-88; P = .002) and function with 48% (1-92; P = .002) were found. CONCLUSION: Salvage arthrodesis led to impaired life quality and reduced function combined with significantly higher pain when compared with primary ankle arthrodesis. These findings can be used to counsel our patients preoperatively. LEVEL OF EVIDENCE: Level III, retrospective case series