julilili42/papers huggingface dataset:
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable
2012-10-31

Abstract Background: A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7 . We reanalyzed the family clinically and genetically. Methods: Clinical reevaluation of all family members was performed. There was Sanger sequencing of candidate genes, SNP array analysis, and exome sequencing in definitely affected family members. Results: Diagnosis of cervical dystonia was definite in 6 family members and possible in 12. Analysis of candidate genes in 18p revealed no alteration in definitely affected patients. There was no disease causing copy number variant in 18p. No potentially disease‐causing mutations were detected in 18p by exome sequencing. The CIZ1 gene, mutated in some cases of cervical dystonia, was excluded. Conclusions: Location of DYT7 on 18p in autosomal dominant cervical dystonia is questionable. We demonstrate genetic heterogeneity of this form of dystonia. © 2012 Movement Disorder Society
Structure-Based Engineering Increased the Catalytic Turnover Rate of a Novel Phenazine Prenyltransferase
2012-10-31

Prenyltransferases (PTs) catalyze the regioselective transfer of prenyl moieties onto aromatic substrates in biosynthetic pathways of microbial secondary metabolites. Therefore, these enzymes contribute to the chemical diversity of natural products. Prenylation is frequently essential for the pharmacological properties of these metabolites, including their antibiotic and antitumor activities. Recently, the first phenazine PTs, termed EpzP and PpzP, were isolated and biochemically characterized. The two enzymes play a central role in the biosynthesis of endophenazines by catalyzing the regiospecific prenylation of 5,10-dihydrophenazine-1-carboxylic acid (dhPCA) in the secondary metabolism of two different Streptomyces strains. Here we report crystal structures of EpzP in its unliganded state as well as bound to S-thiolodiphosphate (SPP), thus defining the first three-dimensional structures for any phenazine PT. A model of a ternary complex resulted from in silico modeling of dhPCA and site-directed mutagenesis. The structural analysis provides detailed insight into the likely mechanism of phenazine prenylation. The catalytic mechanism suggested by the structure identifies amino acids that are required for catalysis. Inspection of the structures and the model of the ternary complex furthermore allowed us to rationally engineer EpzP variants with up to 14-fold higher catalytic reaction rate compared to the wild-type enzyme. This study therefore provides a solid foundation for additional enzyme modifications that should result in efficient, tailor-made biocatalysts for phenazines production.
Novel controllable auxetic effect of linearly elongated supported polyelectrolyte multilayers with amorphous structure
2012-10-31

Polyelectrolyte multilayers (PEMs) deposited on flexible supports are promising candidates for many applications ranging from controlled wettability over stimuli responsive nanovalves to lithography free surface structuring. Since many potential applications involve elongation of these films, we investigated the effect of elongation on the PEM thickness and density with ellipsometry. To our surprise PEM films with known amorphous internal structure show auxetic behavior that depends on the PEM preparation condition. The measured refractive index was compared with simulated values using the Garnet equation to evaluate if the incorporation of water or air causes the observed phenomena.
Gasserian Ganglion Block With or Without Low-intensity Laser Therapy in Trigeminal Neuralgia
2012-10-31

Objective: Trigeminal neuralgia is a disabling syndrome characterized by severe hemifacial pain, often accompanied by a brief facial spasm. The treatment generally includes medical or surgical approaches. Low-level laser therapy (LLLT) has also been proposed as a safe and effective treatment modality. This study aims to assess whether adding LLLT to trigeminal ganglion block has a substantial effect in increasing pain relief in trigeminal neuralgia. Methods: This case-control study recruited 42 patients with trigeminal neuralgia over a 15-month period from a single academic pain center. The patients were randomized to 2 equal groups. Group A received Gasserian ganglion block along with LLLT, and group B, the control group, received only the ganglion block. The severity of pain was determined by the visual analogue scale at baseline, before each block, and at 1, 3, 5, and 7 days and 1, 3, and 6 months after the intervention. The dose of carbamazepine taken by the patients was also documented during the study period. The results were analyzed using SPSS v.15. The Student t test (independent samples), the Mann-Whitney U test, the χ2 test, and the Fisher exact test were used to analyze the results. P≤0.05 was considered significant. Results: The severity of pain was significantly lower in group A, from day 7 until the end of the study period (month 6). The number of carbamazepine tablets taken was also significantly lower in group A compared with group B from the initial months until the end of the study period (month 6). The period of a pain-free state was significantly higher in group A than in group B (P<0.00l). Conclusions: This study showed that LLLT augments the effects of ganglion block in patients with trigeminal neuralgia and results in a decrease in the dose of carbamazepin after the intervention. The duration of a painless state is also considerably long with this method.
Profound Re-Organization of Cell Surface Proteome in Equine Retinal Pigment Epithelial Cells in Response to In Vitro Culturing
2012-10-31

The purpose of this study was to characterize the cell surface proteome of native compared to cultured equine retinal pigment epithelium (RPE) cells. The RPE plays an essential role in visual function and represents the outer blood-retinal barrier. We are investigating immunopathomechanisms of equine recurrent uveitis, an autoimmune inflammatory disease in horses leading to breakdown of the outer blood-retinal barrier and influx of autoreactive T-cells into affected horses’ vitrei. Cell surface proteins of native and cultured RPE cells from eye-healthy horses were captured by biotinylation, analyzed by high resolution mass spectrometry coupled to liquid chromatography (LC MS/MS), and the most interesting candidates were validated by PCR, immunoblotting and immunocytochemistry. A total of 112 proteins were identified, of which 84% were cell surface membrane proteins. Twenty-three of these proteins were concurrently expressed by both cell states, 28 proteins exclusively by native RPE cells. Among the latter were two RPE markers with highly specialized RPE functions: cellular retinaldehyde-binding protein (CRALBP) and retinal pigment epithelium-specific protein 65kDa (RPE65). Furthermore, 61 proteins were only expressed by cultured RPE cells and absent in native cells. As we believe that initiating events, leading to the breakdown of the outer blood-retinal barrier, take place at the cell surface of RPE cells as a particularly exposed barrier structure, this differential characterization of cell surface proteomes of native and cultured equine RPE cells is a prerequisite for future studies.
The Special Electrophysiological Signs of Inherited Retinal Dystrophies
2012-10-31

The study aim was to analyze the electrophysiological signs of inherited retinal dystrophies (IRD). Full-field and multifocal (mf) electroretinography (ERG) was analysed in three groups: 21 normal subjects, 21 randomly selected IRD patients, and 21 patients randomly selected from each of eleven IRD groups. As a result, median, 5-95 and 25-75 interquantile intervals of each full-field and mfERG parameter were estimated for each of the above mentioned groups and compared using a Kruskal-Wallis test. Quantitative and qualitative criteria defined in this study will improve the precision of differential diagnosis, the detection of IRD severity, and the efficacy of treatment. The quantitative and qualitative characteristics of ERG values, established in this study, can be further applied to the creation of software that will allow the automatic classification of the recording into a specific disease and degree of severity.
B–N bond formation at stanna-closo-dodecaborate
2012-10-31

The heteroborate stanna-closo-dodecaborate shows double substitution in the reaction with alkylated acetonitrile. The reaction product, the charge compensated E,E-isomer, was isomerized into the Z,Z-isomer and hydrogenated at the double bonds. Furthermore the methylated cluster shows less reactivity and the monosubstituted cluster was isolated. The reaction products were characterized by elemental analysis and NMR spectroscopy. Three of the substitution products were also characterized by single crystal structure analysis.
S100B is increased in Parkinson’s disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway
2012-11-01

Parkinson's disease is a neurodegenerative disorder that can, at least partly, be mimicked by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. S100B is a calcium-binding protein expressed in, and secreted by, astrocytes. There is increasing evidence that S100B acts as a cytokine or damage-associated molecular pattern protein not only in inflammatory but also in neurodegenerative diseases. In this study, we show that S100B protein levels were higher in post-mortem substantia nigra of patients with Parkinson's disease compared with control tissue, and cerebrospinal fluid S100B levels were higher in a large cohort of patients with Parkinson's disease compared with controls. Correspondingly, mice treated with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine showed upregulated S100B messenger RNA and protein levels. In turn, ablation of S100B resulted in neuroprotection, reduced microgliosis and reduced expression of both the receptor for advanced glycation endproducts and tumour necrosis factor-α. Our results demonstrate a role of S100B in the pathophysiology of Parkinson's disease. Targeting S100B may emerge as a potential treatment strategy in this disorder.
Video game–based coordinative training improves ataxia in children with degenerative ataxia
2012-11-01

This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia as measured by SARA score, Dynamic Gait Index, and Activity-specific Balance Confidence Scale at 8 weeks of training.
Phase-adequate engagement at the post-school transition.
2012-11-01

The transition from general education (e.g., high school) to vocational and tertiary education (e.g., college, vocational school) or to the labor market presents a number of developmental challenges. These challenges include making career choices and, more broadly, managing the transition. Coping with these challenges depends on the individual, their social network, and wider societal, cultural, and institutional conditions. This article discusses the informative value of developmental regulation, career development, and identity theories, for conceptualizing phase-adequate engagement at the post-school transition. Although previous psychological research has focused on individuals' career and transition-related engagement and its outcomes, we suggest this picture is limited because little is known about how young people's engagement is complemented and affected by the behavior of significant others and shaped by structural constraints and opportunities. Implications for future developmental research are discussed. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
Interleukin-6 promotes myogenic differentiation of mouse skeletal muscle cells: role of the STAT3 pathway
2012-11-01

Myogenic differentiation of skeletal muscle cells is characterized by a sequence of events that include activation of signal transducer and activator of transcription 3 (STAT3) and enhanced expression of its target gene Socs3. Autocrine effects of IL-6 may contribute to the activation of the STAT3-Socs3 cascade and thus to myogenic differentiation. The importance of IL-6 and STAT3 for the differentiation process was studied in C2C12 cells and in primary mouse wild-type and IL-6 −/− skeletal muscle cells. In differentiating C2C12 myoblasts, the upregulation of IL-6 mRNA expression and protein secretion started after increased phosphorylation of STAT3 on tyrosine 705 and increased mRNA expression of Socs3 was observed. Knockdown of STAT3 and IL-6 mRNA in differentiating C2C12 myoblasts impaired the expression of the myogenic markers myogenin and MyHC IIb and subsequently myotube fusion. However, the knockdown of IL-6 did not prevent the induction of STAT3 tyrosine phosphorylation. The IL-6-independent activation of STAT3 was verified in differentiating primary IL-6 −/− myoblasts. The phosphorylation of STAT3 and the expression levels of STAT3, Socs3, and myogenin during differentiation were comparable in the primary myoblasts independent of the genotype. However, IL-6 −/− cells failed to induce MyHC IIb expression to the same level as in wild-type cells and showed reduced myotube formation. Supplementation of IL-6 could partially restore the fusion of IL-6 −/− cells. These data demonstrate that IL-6 depletion during myogenic differentiation does not reduce the activation of the STAT3-Socs3 cascade, while IL-6 and STAT3 are both necessary to promote myotube fusion.
Polypyrimidine Tract Binding Protein Homologs from Arabidopsis Are Key Regulators of Alternative Splicing with Implications in Fundamental Developmental Processes
2012-11-01

Alternative splicing (AS) generates transcript variants by variable exon/intron definition and massively expands transcriptome diversity. Changes in AS patterns have been found to be linked to manifold biological processes, yet fundamental aspects, such as the regulation of AS and its functional implications, largely remain to be addressed. In this work, widespread AS regulation by Arabidopsis thaliana Polypyrimidine tract binding protein homologs (PTBs) was revealed. In total, 452 AS events derived from 307 distinct genes were found to be responsive to the levels of the splicing factors PTB1 and PTB2, which predominantly triggered splicing of regulated introns, inclusion of cassette exons, and usage of upstream 5' splice sites. By contrast, no major AS regulatory function of the distantly related PTB3 was found. Dependent on their position within the mRNA, PTB-regulated events can both modify the untranslated regions and give rise to alternative protein products. We find that PTB-mediated AS events are connected to diverse biological processes, and the functional implications of selected instances were further elucidated. Specifically, PTB misexpression changes AS of PHYTOCHROME INTERACTING FACTOR6, coinciding with altered rates of abscisic acid-dependent seed germination. Furthermore, AS patterns as well as the expression of key flowering regulators were massively changed in a PTB1/2 level-dependent manner.
The taxation of passive foreign investment: lessons from German experience
2012-11-01

Abstract The paper evaluates the working of German CFC rules that restrict the use of foreign subsidiaries located in low‐tax countries to shelter passive investment income from home taxation. While passive investments make up a significant fraction of German outbound FDI, we find that German CFC rules are quite effective in restricting investments in low‐tax jurisdictions. We find evidence that the German 2001 tax reform, which unilaterally introduced exemption of passive income in medium‐ and high‐tax countries, has led to some shifting of passive assets into countries for which the exemption was previously limited.
Return to Sports Activity After Tibial Plateau Fractures
2012-11-01

Background: Tibial plateau fractures requiring surgery are severe injuries. For professionals, amateurs, and recreational athletes, tibial plateau fractures might affect leisure and professional life. Hypothesis: Athletic patients will be affected in their sporting activity after a tibial plateau fracture. Despite a long rehabilitation time and program, physical activity will change to low-impact sports. Study Design: Case series; Level of evidence, 4. Methods: A total of 89 consecutive patients (age range, 14-76 years) were included in the study and were surveyed by a questionnaire. Inclusion criteria were surgical treatment of tibial plateau fractures between 2003 and 2009 with a minimum follow-up of 24 months. The sporting activity was determined at the time of injury, 1 year postoperatively, and at the time of the survey at an average of 52.8 months postoperatively. The clinical evaluation included the Lysholm score, the Tegner activity scale, the activity rating scale (ARS), and a visual analog scale (VAS) for pain perception. Fractures were classified and analyzed using both the Arbeitsgemeinschaft für Osteosynthesefragen (AO) and the Schatzker classifications. Results: At the time of injury, 88.8% of all patients were engaged in sports compared with 62.9% 1 year postoperatively and 73.0% at the time of the survey. Of the professional or competitive athletes (n = 11 at the time of injury), only 2 returned to competition at the time of the survey. The number of different sporting activities declined from 4.9 at the time of injury to 3.6 at the time of the survey ( P &lt; .001). The sports frequency and the activity duration per week, being 2.8 sessions and 4.5 hours at the time of injury, respectively, declined to 2.4 sessions and 3.8 hours ( P &lt; .001 and P = .007, respectively) at the time of the survey, respectively. The Lysholm score (98.7 points before accident) and the VAS for pain perception (0.2 before accident) illustrated significant declines to 76.6 points for the Lysholm score and 2.6 for the VAS ( P &lt; .001 and P &lt; .001, respectively) at the time of the survey. The high-energy traumas, Schatzker IV to VI, had significant worse results in the clinical scores compared with the low-energy traumas (Lysholm, P &lt; .001; Tegner, P = .027). Conclusion: The majority of patients could not return to their previous level of activity, and for patients playing competitive sports, this injury can be a career ender. Overall, we noticed a postinjury shift toward activities with less impact. However, at the time of the survey, 73% of all patients were engaged in sports.
Distance Matters: Spatial Contiguity Effects as Trade‐Off between Gaze Switches and Memory Load
2012-11-01

Summary The present study combined the approaches of multimedia learning and of comparative visual search (Hardiess, Gillner, &amp; Mallot, 2008) in order to analyse the processing of spatially separated information. Participants were asked to compare two depictions of a mechanical pendulum clock to detect no, one, or two differences between them. The spatial distance between the two depictions was varied, and participants received either stimulus‐related information about the functionalities of pendulum clocks or stimulus‐unrelated information about the design of cuckoo clocks. The study demonstrates a trade‐off between gaze movement and working memory use. We observed fewer gaze shifts with increasing distance between the pictures, suggesting higher working memory use. The findings indicate that the distance between two pictures, domain knowledge and visual working memory span are important factors that determine memory load required for processing split information sources. Copyright © 2012 John Wiley &amp; Sons, Ltd.
Regional inequality in human capital formation in Europe, 1790–1880
2012-11-01

Abstract Recent theoretical advances reveal the importance of human capital for long-run economic growth. However, the absence of data makes it difficult to measure human capital before 1870 at the national level, let alone at the regional level within countries. By using the age heaping method and a large, new data set, we approximate the numeracy values in more than 570 regions in Europe between 1790 and 1880. The results indicate a significant gap in numeracy levels between advanced west and central European countries and the rest of Europe. Nevertheless, differences in basic numeracy between and within countries became smaller over the nineteenth century, as the periphery solved its basic numeracy problem.
Proliferative and Survival Effects of PUMA Promote Angiogenesis
2012-11-01

The p53 upregulated modulator of apoptosis (PUMA) is known as an essential apoptosis inducer. Here, we report the seemingly paradoxical finding that PUMA is a proangiogenic factor critically required for the proliferation and survival of vascular and microglia cells. Strikingly, Puma deficiency by genetic deletion or small hairpin RNA knockdown inhibited developmental and pathological angiogenesis and reduced microglia numbers in vivo, whereas Puma gene delivery increased angiogenesis and cell survival. Mechanistically, we revealed that PUMA plays a critical role in regulating autophagy by modulating Erk activation and intracellular calcium level. Our findings revealed an unexpected function of PUMA in promoting angiogenesis and warrant more careful investigations into the therapeutic potential of PUMA in treating cancer and degenerative diseases.
Simultaneous PET/MR imaging of the brain: feasibility of cerebral blood flow measurements with FAIR-TrueFISP arterial spin labeling MRI
2012-11-01

Background Hybrid positron emission tomography/magnetic resonance imaging (PET/MRI) with simultaneous data acquisition promises a comprehensive evaluation of cerebral pathophysiology on a molecular, anatomical, and functional level. Considering the necessary changes to the MR scanner design the feasibility of arterial spin labeling (ASL) is unclear. Purpose To evaluate whether cerebral blood flow imaging with ASL is feasible using a prototype PET/MRI device. Material and Methods ASL imaging of the brain with Flow-sensitive Alternating Inversion Recovery (FAIR) spin preparation and true fast imaging in steady precession (TrueFISP) data readout was performed in eight healthy volunteers sequentially on a prototype PET/MRI and a stand-alone MR scanner with 128 × 128 and 192 × 192 matrix sizes. Cerebral blood flow values for gray matter, signal-to-noise and contrast-to-noise ratios, and relative signal change were compared. Additionally, the feasibility of ASL as part of a clinical hybrid PET/MRI protocol was demonstrated in five patients with intracerebral tumors. Results Blood flow maps showed good delineation of gray and white matter with no discernible artifacts. The mean blood flow values of the eight volunteers on the PET/MR system were 51±9 and 51±7 mL/100 g/min for the 128 × 128 and 192 × 192 matrices (stand-alone MR, 57±2 and 55 ± 5, not significant). The value for signal-to-noise (SNR) was significantly higher for the PET/MRI system using the 192 × 192 matrix size ( P &lt; 0.01), the relative signal change (δS) was significantly lower for the 192 × 192 matrix size ( P = 0.02). ASL imaging as part of a clinical hybrid PET/MRI protocol could successfully be accomplished in all patients in diagnostic image quality. Conclusion ASL brain imaging is feasible with a prototype hybrid PET/MRI scanner, thus adding to the value of this novel imaging technique.
Real time face detection using geometric constraints, navigation and depth-based skin segmentation on mobile robots
2012-11-01

Face detection is an important component for mobile robots to interact with humans in a natural way. Various face detection algorithms for mobile robots have been proposed; however, almost all of them have not yet met the requirements of the accuracy and the speed to run in real time on a robot platform. In this paper, we present a method of combining color and depth images provided by a Kinect camera and navigation information for face detection on mobile robots. This method is shown to be very fast and accurate and runs in real time in indoor environments.