INTRODUCTION The recent studies of Parkinson's disease (PD) indicate that genetics and environmental factors may play an important role in developing of PD. Nowadays, the cell death and cell adhesion are pathogenetic mechanisms which could be related with PD. On the basis of relationship of those mechanisms with PD, the aim of this study was to identify new candidate genes for PD by integration of results of transcriptomics studies and results obtained by Biomedical Discovery Support System (BITOLA). MATERIALS AND METHODS For the detection of functional relationship between potential candidate gene and pathogenetic mechanisms associated with PD, we designed strategy of integration of results of transcriptomics studies with discovery approach in bibliographic data bases and BITOLA. Data of chromosome location, tissue-specific expression, function of potential candidate genes and their association with genetics disorders were obtained from Medline, Locus Link, Gene Cards and OMIM. RESULTS Integration and comparison of results obtained using the BITOLA system and analysis of transcriptomics studies identified six genes (MAPT, UCHL1, NSF, CDC42, PARK2 and GFPT1) that occur simultaneously in both group of results. The function of genes NSF, CDC42 and GFPT1 in the pathogenesis of PD has not been studied yet. CONCLUSIONS According to our result that aforementioned genes appeared in both groups of results and partially match the criteria set for the selection of candidate genes and their potential role in the development of PD, they should be tested by methods specifically intended for those three genes.
Motivation: Ancestral genomes provide a better way to understand the structural evolution of genomes than the simple comparison of extant genomes. Most ancestral genome reconstruction methods rely on universal markers, that is, homologous families of DNA segments present in exactly one exemplar in every considered species. Complex histories of genes or other markers, undergoing duplications and losses, are rarely taken into account. It follows that some ancestors are inaccessible by these methods, such as the proto–monocotyledon whose evolution involved massive gene loss following a whole genome duplication. Results: We propose a mapping approach based on the combinatorial notion of ‘sandwich consecutive ones matrix’, which explicitly takes gene losses into account. We introduce combinatorial optimization problems related to this concept, and propose a heuristic solver and a lower bound on the optimal solution. We use these results to propose a configuration for the proto-chromosomes of the monocot ancestor, and study the accuracy of this configuration. We also use our method to reconstruct the ancestral boreoeutherian genomes, which illustrates that the framework we propose is not specific to plant paleogenomics but is adapted to reconstruct any ancestral genome from extant genomes with heterogeneous marker content. Availability: Upon request to the authors. Contact: haris.gavranovic@gmail.com; eric.tannier@inria.fr
According to the Code of Points (FIG, 2009) the balance beam difficulty value is determined by the sum of maximum 8 most difficult elements (including the dismount), fulfilling 5 composition requirements and by the values that exceed from the connections between the acrobatic elements, turns and acro-rhythmic elements. The aim of this study was to determine the frequency of performed dance elements on the balance beam and their influence on: difficulty value, execution value and final score. The sample consisted of 109 women top junior athletes, who participated in qualifications on the European Championships in Birmingham in 2010. The results obtained showed that the gymnasts in average perform 4.28 dance elements in their balance beam routines. The highest frequency was determined to a C difficulty jump ˝switch leap˝ (N=101), to two A difficulty jumps: “wolf hop or jump from cross or side position” (N=83) and to ˝Sissone˝ (leg separation 180°) take off from both legs (N=61); and to A difficulty turn: “1/1 turn (360°) on one leg – free leg optional below horizontal” (N=66). Regression analysis revealed a statistically significant influence of some dance elements on the difficulty value of the exercise (p <0.05) and on the final score. Statistically significant influence of different dance elements on the execution value was not found.
. In this paper we survey the results on the Dunkl–Williams inequality in normed linear spaces. These are related to the geometry of normed linear spaces, the characterizations of inner product spaces, some inequalities regarding operators on Hilbert spaces and elements of Hilbert C ∗ -modules.
Large-scale assessments of student achievement in physics are often approached with an intention to discriminate students based on the attained level of their physics competencies. Therefore, for purposes of test design, it is important that items display an acceptable discriminatory behavior. To that end, it is recommended to avoid extraordinary difficult and very easy items. Knowing the factors that influence physics item difficulty makes it possible to model the item difficulty even before the first pilot study is conducted. Thus, by identifying predictors of physics item difficulty, we can improve the test-design process. Furthermore, we get additional qualitative feedback regarding the basic aspects of student cognitive achievement in physics that are directly responsible for the obtained, quantitative test results. In this study, we conducted a secondary analysis of data that came from two large-scale assessments of student physics achievement at the end of compulsory education in Bosnia and Herzegovina. Foremost, we explored the concept of ``physics competence'' and performed a content analysis of 123 physics items that were included within the above-mentioned assessments. Thereafter, an item database was created. Items were described by variables which reflect some basic cognitive aspects of physics competence. For each of the assessments, Rasch item difficulties were calculated in separate analyses. In order to make the item difficulties from different assessments comparable, a virtual test equating procedure had to be implemented. Finally, a regression model of physics item difficulty was created. It has been shown that 61.2% of item difficulty variance can be explained by factors which reflect the automaticity, complexity, and modality of the knowledge structure that is relevant for generating the most probable correct solution, as well as by the divergence of required thinking and interference effects between intuitive and formal physics knowledge structures. Identified predictors point out the fundamental cognitive dimensions of student physics achievement at the end of compulsory education in Bosnia and Herzegovina, whose level of development influenced the test results within the conducted assessments.
Human Papillomavirus (HPV) is the main risk factor for cervical cancers and is associated with close to 36% of oropharyngeal cancers. There is increasing evidence that oral HPV transmission is related to sexual behavior but to our knowledge studies that involve women who have sex with women have not been performed. We examined the prevalence of oral HPV according to sexual behavior among a population-based sample of 118 women and have made some inferences of possible predictors of oral HPV infection. Women were categorized as heterosexual (history of vaginal sex and/or oral sex with males only, n = 75), bisexual (history of vaginal sex and oral sex with females, n = 32) and other (no history of vaginal sex but oral sex with females [homosexuals], virgins and women with incomplete sexual exposure data, n = 11) The prevalence of oral HPV infection was 12/118 (10.2%) for the overall study population and was not significantly different between heterosexual and bisexual women (10.7% (8/75) vs. 12.5% (4/32), p = 0.784). There was no oral HPV detected among homosexual women, virgins or among women where sexual exposure was unknown. Never smokers were more likely to be oral HPV+ compared to former smokers (Adjusted Odds Ratio (Adj OR) = 0.1, 95% CI, 0.0–1.1) and there was no difference in risk between never smokers and current smokers (Adj OR = 0.7, 95% CI, 0.1–4.6). Twenty-five percent (3/12) of oral HPV+ women had a history of HPV and/or genital warts compared to 9% (10/106) of oral HPV-women (p = 0.104). For the women with a history of vaginal sex (n = 110), oral HPV status was statistically significantly different according to oral sex exposure (p = 0.039). A higher proportion of oral HPV-positive women reported that they had no history of oral sex exposure compared to oral HPV-negative women (4/12, 33% vs. 7/98, 8%). The prevalence of cervical HPV infection did not vary between heterosexuals and bisexuals (35.7% (25/70) vs. 35.5% (11/31), p-value 0.411) and for all other women the cervical HPV prevalence was significantly lower (11.1%, 1/9). Our study suggests that smoking and sexual behavior involving males rather than female partners may be possible predictors of oral HPV infection in women. Further studies with larger sample size are needed to confirm these findings.
BackgroundThrough this paper, we present the initial steps for the creation of an integrated platform for the provision of a series of eHealth tools and services to both citizens and travelers in isolated areas of thesoutheast Mediterranean, and on board ships travelling across it. The platform was created through an INTERREG IIIB ARCHIMED project called INTERMED.MethodsThe support of primary healthcare, home care and the continuous education of physicians are the three major issues that the proposed platform is trying to facilitate. The proposed system is based on state-of-the-art telemedicine systems and is able to provide the following healthcare services: i) Telecollaboration and teleconsultation services between remotely located healthcare providers, ii) telemedicine services in emergencies, iii) home telecare services for "at risk" citizens such as the elderly and patients with chronic diseases, and iv) eLearning services for the continuous training through seminars of both healthcare personnel (physicians, nurses etc) and persons supporting "at risk" citizens.These systems support data transmission over simple phone lines, internet connections, integrated services digital network/digital subscriber lines, satellite links, mobile networks (GPRS/3G), and wireless local area networks. The data corresponds, among others, to voice, vital biosignals, still medical images, video, and data used by eLearning applications. The proposed platform comprises several systems, each supporting different services. These were integrated using a common data storage and exchange scheme in order to achieve system interoperability in terms of software, language and national characteristics.ResultsThe platform has been installed and evaluated in different rural and urban sites in Greece, Cyprus and Italy. The evaluation was mainly related to technical issues and user satisfaction. The selected sites are, among others, rural health centers, ambulances, homes of "at-risk" citizens, and a ferry.ConclusionsThe results proved the functionality and utilization of the platform in various rural places in Greece, Cyprus and Italy. However, further actions are needed to enable the local healthcare systems and the different population groups to be familiarized with, and use in their everyday lives, mature technological solutions for the provision of healthcare services.
Identification of physiologically relevant substrates is still the most challenging part in protease research for understanding the biological activity of these enzymes. The zinc-dependent metalloprotease meprin β is known to be expressed in many tissues with functions in health and disease. Here, we demonstrate unique interactions between meprin β and the amyloid precursor protein (APP). Although APP is intensively studied as a ubiquitously expressed cell surface protein, which is involved in Alzheimer disease, its precise physiological role and relevance remain elusive. Based on a novel proteomics technique termed terminal amine isotopic labeling of substrates (TAILS), APP was identified as a substrate for meprin β. Processing of APP by meprin β was subsequently validated using in vitro and in vivo approaches. N-terminal APP fragments of about 11 and 20 kDa were found in human and mouse brain lysates but not in meprin β−/− mouse brain lysates. Although these APP fragments were in the range of those responsible for caspase-induced neurodegeneration, we did not detect cytotoxicity to primary neurons treated by these fragments. Our data demonstrate that meprin β is a physiologically relevant enzyme in APP processing.
The invasive algae in the Mediterranean Caulerpa taxifolia and Caulerpa racemosa var. cylindracea have gained much interest in the Adriatic Sea due to their fast spread and negative impacts on native seaweed species. Lack of accurate mapping and its overall high costs present some of the major difficulties for successful detection and subsequent environmental management. Remote sensing techniques could provide a quicker, more accurate and more cost efficient approach to mapping these invasive species. In order to allow for classification of remotely sensed data, we have collected and analyzed hyperspectral reflectance profiles of both invasive Caulerpa species in the Adriatic and the native Caulerpa cf. laetevirens species from the southeastern Atlantic coast of the United States. We have measured distinctive spectral features for spectroscopically distinguishing between these species, which is particularly interesting in the areas where these native and invasive species coexist. The initial results suggest that it might be possible to distinguish between the species based on their spectral reflectance profile. These results would have to be verified with samples taken from more populations in different phenological phases of the seaweed growth and other environmental conditions.
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