951 research outputs found

    The craniofacial indicators of aggression: a cross-sectional multiparametric anthropometry study

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    Background: The craniofacial features of a person are unique and critical in the evaluation of age, gender, and ethnicity. The relationships between craniofacial properties and behavioural patterns have been one of the most common research topics. Materials and methods: There are studies on the association of facial width-to- -height ratio (fWHR) and aggressive behaviour in men; however, no consensus has been reached as there are inconsistent study results. Most of the studies focus on measuring the pre-determined fWHR in searching for a link to aggression. As the literature lacks data on the associations of multiple craniofacial ratios and aggression, we aimed to study the correlation of aggressive behaviour and multiparametric anthropometric measurements of the craniofacial region in a study group consisting of university students aging 18–38 years. Results: The aggression questionnaire results showed that male students had statistically higher scores than females in all subdomains, except physical aggression. Anthropometric studies revealed that males had higher mean values of craniofacial dimensions and indices than females, except the frontal height, the total lip height, frontal index, and cranial length-head circumference index. The statistical analyses for correlations showed that frontal, upper facial, and total facial height-facial width indices correlated with general and verbal aggression, frontal and upper facial indices correlated with physical aggression, and upper facial and total facial height-facial width indices correlated with indirect aggression only in males. Conclusions: We conclude that our study represents the first example of an extensive craniofacial anthropometric research that correlates several craniofacial measurements and ratios with various aggression subdomains

    IMPROVEMENT OF SHOOTING TECHNICAL SKILLS IN THE SHOOTING RANGE WITHIN THE BIATHLON TEST FOR JUNIORS

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    : The aim of the research is to identify ways to achieve a biathlon test capacity that will favor the achievement of an optimal biological state needed to make shooting range pull more efficient. In the experimental research, the psychomotricity state is manifested through the stability of some coordinated coordinating capacities, obtained by individualized training in the field of shooting, applied by 4 junior biathlonists from CSS Dinamo Râşnov. As a result of the scientific research, we can say that the working hypothesis has been confirmed, so by individualized proprioceptive training that leads to the regulation of the biological state it is possible to optimize the technical ability of shooting in the biathlon test in the junior category

    Analysis of the European Union Countries and Turkey in Terms of Criminal Tendencies

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    This study uses criminal tendencies data to reveal the relations between the member states of the European Union and Turkey. The relations between these countries and criminal tendency trends are of vital importance for our future. Eight factors in our research are used to show the impact of criminal tendencies for countries. These factors are homicide, violent crime, robbery, domestic burglary, motor vehicle theft, drug trafficking, number of police officers and prison population. It is possible to find many sources in the literature related to each of these factors for the member states of the European Union and Turkey. However, there is a need for studies to take all of these factors into account. So we can clearly identify the relations among countries in terms of criminal tendencies in a highly variable space. We use correspondence analysis method and clustering method based on chi-squared distance which is used for categorical data to analyze the relationship between these countries in terms of criminal tendencies. As a result, we can say that robbery, domestic burglary and motor vehicle theft trends in Estonia, Germany, Denmark, France and Ireland are similar. Also Turkey, Luxemburg, Slovenia and Croatia are in the same group. Mainly, these countries have homicide and drug trafficking trends. The other striking finding is that the trend of violent crime is high in the countries such as England, Sweden, Finland, Netherlands and Belgium which have a good level of education and income

    An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

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    Background: Our previous array, the Comparative Genomic Hybridisation design (CGH-array) for nemaline myopathy (NM), named the NM-CGH array, revealed pathogenic copy number variation (CNV) in the genes for nebulin (NEB) and tropomyosin 3 (TPM3), as well as recurrent CNVs in the segmental duplication (SD), i.e. triplicate, region of NEB (TRI, exons 82-89, 90-97, 98-105). In the light of this knowledge, we have designed and validated an extended CGH array, which includes a selection of 187 genes known to cause neuromuscular disorders (NMDs). Objective: Our aim was to develop a reliable method for CNV detection in genes related to neuromuscular disorders for routine mutation detection and analysis, as a much-needed complement to sequencing methods. Methods: We have developed a novel custom-made 4×180 k CGH array for the diagnostics of NMDs. It includes the same tiled ultra-high density coverage of the 12 known or putative NM genes as our 8×60 k NM-CGH-array but also comprises a selection of 175 additional genes associated with NMDs, including titin (TTN), at a high to very high coverage. The genes were divided into three coverage groups according to known and potential pathogenicity in neuromuscular disorders. Results: The array detected known and putative CNVs in all three gene coverage groups, including the repetitive regions of NEB and TTN. Conclusions: The targeted neuromuscular disorder 4×180 k array-CGH (NMD-CGH-array v1.0) design allows CNV detection for a broader spectrum of neuromuscular disorders at a high resolution. © 2018 - IOS Press and the authors. All rights reserved.Peer reviewe

    Minimum Information about a Biosynthetic Gene cluster

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    A wide variety of enzymatic pathways that produce specialized metabolites in bacteria, fungi and plants are known to be encoded in biosynthetic gene clusters. Information about these clusters, pathways and metabolites is currently dispersed throughout the literature, making it difficult to exploit. To facilitate consistent and systematic deposition and retrieval of data on biosynthetic gene clusters, we propose the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard.Netherlands Organization for Scientific Research (NWO)/Rubicon/825.13.001EU/FP7/Joint Call OCEANBiotechnology and Biological Sciences Research Council (BBSRC)Natural Environment Research Council (UK)National Institute for Energy Ethics and Society (NIEeS; UK)Gordon and Betty Moore FoundationNational Science Foundation (NSF; US)US Department of EnergyEngineering and Physical Sciences Research Council (EPSRC

    Stimulation of Na<sup>+</sup>/H<sup>+</sup> Exchanger Isoform 1 Promotes Microglial Migration

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    Regulation of microglial migration is not well understood. In this study, we proposed that Na+/H+ exchanger isoform 1 (NHE-1) is important in microglial migration. NHE-1 protein was co-localized with cytoskeletal protein ezrin in lamellipodia of microglia and maintained its more alkaline intracellular pH (pHi). Chemoattractant bradykinin (BK) stimulated microglial migration by increasing lamellipodial area and protrusion rate, but reducing lamellipodial persistence time. Interestingly, blocking NHE-1 activity with its potent inhibitor HOE 642 not only acidified microglia, abolished the BK-triggered dynamic changes of lamellipodia, but also reduced microglial motility and microchemotaxis in response to BK. In addition, NHE-1 activation resulted in intracellular Na+ loading as well as intracellular Ca2+ elevation mediated by stimulating reverse mode operation of Na+/Ca2+ exchange (NCXrev). Taken together, our study shows that NHE-1 protein is abundantly expressed in microglial lamellipodia and maintains alkaline pHi in response to BK stimulation. In addition, NHE-1 and NCXrev play a concerted role in BK-induced microglial migration via Na+ and Ca2+ signaling. © 2013 Shi et al

    Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

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    We report the first family with a dominantly inherited mutation of the nebulin gene (NEB). This 100kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family. It is the largest deletion characterized in NEB hitherto. The mutated allele was shown to be expressed at the mRNA level and furthermore, for the first time, a deletion was shown to cause the production of a smaller mutant nebulin protein. Thus, we suggest that this novel mutant nebulin protein has a dominant-negative effect, explaining the first documented dominant inheritance of nebulin-caused myopathy. The index patient, a young man, was more severely affected than his mother and grandmother. His first symptom was foot drop at the age of three, followed by distal muscle atrophy, slight hypomimia, high-arched palate, and weakness of the neck and elbow flexors, hands, tibialis anterior and toe extensors. Muscle biopsies showed myopathic features with type 1 fibre predominance in the index patient and nemaline bodies and cap-like structures in biopsies from his mother and grandmother. The muscle biopsy findings constitute a further example of nemaline bodies and cap-like structures being part of the same spectrum of pathological changes. (C) 2019 Elsevier B.V. All rights reserved.Peer reviewe

    Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

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    Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the TPM2 and TPM3 genes. Included are altogether 93 families: 53 with TPM2 mutations and 40 with TPM3 mutations. Thirty distinct pathogenic variants of TPM2 and 20 of TPM3 have been published or listed in the Leiden Open Variant Database (http://www.dmd.nl/). Most are heterozygous changes associated with autosomal-dominant disease. Patients with TPM2 mutations tended to present with milder symptoms than those with TPM3 mutations, DA being present only in the TPM2 group. Previous studies have shown that five of the mutations in TPM2 and one in TPM3 cause increased Ca2+ sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with nonhypercontractile ones (2/22 and 1/22), whereas patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin–actin association or tropomyosin head-to-tail binding
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