Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database

In 1994, the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC) established an international database of mutations identified in families with Lynch (HNPCC) syndrome. The data are publicly available at http://www.nfdht. nl. The information stored in the database was systematically analyzed in 1997, and at that time, 126 different predisposing mutations were reported affecting the DNA mismatch repair genes MSH2 and MLH1 and occurring in 202 families. In 2003, the ICG-HNPCC and the Leeds Castle Polyposis Group (LCPG) merged into a new group, INSiGHT (International Society for Gastrointestinal Hereditary Tumors). The present update of the database of DNA mismatch repair gene mutations of INSiGHT includes 448 mutations that primarily involve MLH1 (50%), MSH2 (39%), and MSH6 (7%) and occur in 748 families from different parts of the world.
On Safety of Replicated Transactional Memory

Transaction Memory (TM) is a concurrency control abstraction that allows the programmer to specify blocks of code to be executed atomically. In this paper, we consider a distributed variant of TM in which transactional memory is consistently replicated on network nodes for greater availability and fault-tolerance. We argue that opacity, a standard TM safety property, is misused when applied to replicated transactional systems. In this paper we also sketch the requirements for a new safety property that can work well with all kinds of transactional systems, including replicated TM.
Crossover recombination mediated by HIM-18/SLX4-associated nucleases

Meiosis is a specialized cell division program that results in the formation of haploid gametes (i.e., sperm and eggs) from diploid parental cells, and is essential for all sexually reproducing organisms. Crossover formation, the reciprocal exchange of genetic information during recombination, is critical for accurate meiotic chromosome segregation. Misregulation of crossover formation leads to genomic instability and aneuploidy (cells with the incorrect number of chromosomes), resulting in tumorigenesis, birth defects, miscarriages, and infertility in humans. Recently, a shuriken/Swiss army knife-like multi-nuclease complex has been implicated in processing various types of DNA repair intermediates. However, how these nucleases coordinate their functions during repair remained unclear. Our studies in C. elegans revealed genetic redundancies between these nucleases for meiotic crossover formation and that they promote distinct crossover control at different chromosome regions. Specifically, XPF-1 acts redundantly with both MUS-81 and SLX-1 to resolve Holliday junction recombination intermediates into crossover products at designated future crossover sites on chromosome arms. In contrast, SLX-1 is required for suppression of crossovers at the center region of chromosomes. Altogether, our studies have shed light on the interplay between structure-specific endonucleases and uncovered their ability to exert either positive or negative meiotic crossover control on a chromosome region-specific basis.
OPTIMIZATION OF A SELECTION SCHEME FOR MILK COMPOSITION AND YIELD IN MILKING EWES : Example of the Lacaune Breed

Management of the genetic improvement of milking ewes depends on the obvious fact that they are both dairy animals and sheep. This paper deals with the Lacaune breed situation in France. It points out the way to build the selection scheme,on two particu­ lar aspects:the need to rationalize and simplify milk recording both for milk composition and milk yield,and the concurrent use of AI and natural mating,within the scope of a pyramidal manage­ ment of the population. We sum up the main results of studies on these differents aspects in this paper. In the course of the last twenty years,phenotypic and genetic improvement for the nucleus and base flocks agrees with these theorical studies.
Relationships between different types of fruit and vegetable consumption and serum concentrations of antioxidant vitamins

Increased fruit and vegetable consumption has become a health priority in many countries. Therefore, data investigating the influence of different types of fruits and vegetables on serum antioxidant levels would be useful. The objective of the study was to assess the relationship between fruit and vegetable consumption and vitamin serum antioxidant concentrations. Specific fruit and vegetable groups are evaluated. A total of 3521 subjects (1487 men and 2034 women), aged 35–60 years, participating in the SU.VI. MAX cohort were included in this study. Blood samples of participants were analysed for β-carotene, vitamin C and α-tocopherol. Each subject had completed at least six dietary records during the first 2 years of the study. It was found that women had higher mean β-carotene and vitamin C serum concentrations than men, but lower α-tocopherol serum concentrations. Serum β-carotene and vitamin C concentrations were positively correlated with consumption of both fruit and vegetables, as well as with most of the fruit and vegetable groups tested. These relationships persisted after adjustment for confounding factors. Regression analysis showed a linear dose–response relationship. Root vegetables and citrus fruits were particularly associated with β-carotene serum status as were citrus fruits for vitamin C. Fruit and vegetable consumption was either not or weakly associated with α-tocopherol serum concentrations. These results describe antioxidant serum concentrations according to fruit and vegetable consumption in a large sample and support the findings of previous studies involving a more limited number of subjects.
Multicore Surprises: Lessons Learned from Optimizing Sweep3D on the Cell Broadband Engine

The Cell Broadband Engine (BE) processor provides the potential to achieve an impressive level of performance for scientific applications. This level of performance can be reached by exploiting several dimensions of parallelism, such as thread-level parallelism using several synergistic processing elements, data streaming parallelism, vector parallelism in the form of 128-bit SIMD operations, and pipeline parallelism by issuing multiple instructions in the same clock cycle. In our exploration to achieve the optimum level of performance for Sweep3D, we have enjoyed many pleasant surprises, such as a very high floating point performance, reaching 64% of the theoretical peak in double precision, and an over all performance speedup ranging from 4.5 times when compared with "heavy iron" processors, up to over 20 times with conventional processors.
Finding of the Low Molecular Weight Inhibitors of Resuscitation Promoting Factor Enzymatic and Resuscitation Activity

Background Resuscitation promoting factors (RPF) are secreted proteins involved in reactivation of dormant actinobacteria, including Mycobacterium tuberculosis. They have been considered as prospective targets for the development of new anti-tuberculosis drugs preventing reactivation of dormant tubercle bacilli, generally associated with latent tuberculosis. However, no inhibitors of Rpf activity have been reported so far. The goal of this study was to find low molecular weight compounds inhibiting the enzymatic and biological activities of Rpfs. Methodology/Principal Findings Here we describe a novel class of 2-nitrophenylthiocyanates (NPT) compounds that inhibit muralytic activity of Rpfs with IC50 1–7 µg/ml. Fluorescence studies revealed interaction of active NPTs with the internal regions of the Rpf molecule. Candidate inhibitors of Rpf enzymatic activity showed a bacteriostatic effect on growth of Micrococcus luteus (in which Rpf is essential for growth protein) at concentrations close to IC50. The candidate compounds suppressed resuscitation of dormant (“non-culturable”) cells of M. smegmatis at 1 µg/ml or delayed resuscitation of dormant M. tuberculosis obtained in laboratory conditions at 10 µg/ml. However, they did not inhibit growth of active mycobacteria under these concentrations. Conclusions/Significance NPT are the first example of low molecular weight compounds that inhibit the enzymatic and biological activities of Rpf proteins.
Accelerometer based Activity Classification with Variational Inference on Sticky HDP-SLDS

As part of daily monitoring of human activities, wearable sensors and devices are becoming increasingly popular sources of data. With the advent of smartphones equipped with acceloremeter, gyroscope and camera; it is now possible to develop activity classification platforms everyone can use conveniently. In this paper, we propose a fast inference method for an unsupervised non-parametric time series model namely variational inference for sticky HDP-SLDS(Hierarchical Dirichlet Process Switching Linear Dynamical System). We show that the proposed algorithm can differentiate various indoor activities such as sitting, walking, turning, going up/down the stairs and taking the elevator using only the acceloremeter of an Android smartphone Samsung Galaxy S4. We used the front camera of the smartphone to annotate activity types precisely. We compared the proposed method with Hidden Markov Models with Gaussian emission probabilities on a dataset of 10 subjects. We showed that the efficacy of the stickiness property. We further compared the variational inference to the Gibbs sampler on the same model and show that variational inference is faster in one order of magnitude.
Identification and Classification of Genes That Act Antagonistically to let-60 Ras Signaling in Caenorhabditis elegans Vulval Development

The synthetic multivulva (synMuv) genes negatively regulate Ras-mediated vulval induction in the nematode Caenorhabditis elegans. The synMuv genes define three classes, A, B, and C, such that double mutants carrying mutations in genes of any two classes are multivulva. The class B synMuv genes include lin-35, a homolog of the retinoblastoma (Rb) tumor suppressor gene, as well as homologs of genes that function with Rb in transcriptional regulation. We screened for additional synMuv mutations using a strategy different from that of previous synMuv genetic screens. Some of the mutations we recovered affect new synMuv genes. We present criteria for assigning synMuv mutations into different genetic classes. We also describe the molecular characterization of the class B synMuv gene lin-65.
Visual perception in autism spectrum disorders

This thesis presents research conducted at the cognitive level, the neurophysiological level and the psycho-physical level, for examining vision in ASD. The psycho-physical findings suggest that atypical visual perception in ASD is unlikely to have a sub-cortical origin as sub-cortical magnocellular and parvocellular pathway functioning, and low/high spatial frequency detection in adolescents with ASD were found to be no different from typically-developing controls. There was, however, evidence indicating local motion direction perception deficits in the same adolescents with ASD suggesting that atypical motion perception in ASD may have a cortical origin. Electrophysiological investigation of low level visual perception in ASD revealed findings concurring with this latter interpretation. More specifically, whereas visual evoked potentials demonstrated visuo-integrative processes associated with perception of second order and hyperbolic gratings were not atypical in children with ASD, there was increased activity of the visual cortical region. A further gamma power analysis then demonstrated that there may be increased neuro-connectivity within primary visual area V1 in the children with ASD. Atypical low level visual cortical processes may result in locally-biased perceptual style previously observed in individuals with ASD. However, a cross-cultural comparison of perceptual style in children with ASD and TD children from Singapore and England, found evidence suggesting that locally-biased perceptual style in ASD may not be culturally universal. In sum, lower level visual cortical processes may be atypical in ASD, and whether these atypicalities manifest at the higher perceptual level can be determined by cultural variability in attention and response processes.
Comparison of Phenylephrine and Ephedrine in Treatment of Spinal-Induced Hypotension in High-Risk Pregnancies: A Narrative Review

Purpose To compare maternal and fetal effects of intravenous phenylephrine and ephedrine administration during spinal anesthesia for cesarean delivery in high-risk pregnancies. Source An extensive literature search was conducted using the US National Library of Medicine, MEDLINE search engine, Cochrane review, and Google Scholar using search terms “ephedrine and phenylephrine,” “preterm and term and spinal hypotension,” “preeclampsia and healthy parturients,” or “multiple and singleton gestation and vasopressor. ” Society of Obstetric Anesthesia and Perinatology meeting abstracts for the past 4 years were also searched for relevant studies. Principle findings Both phenylephrine and ephedrine can be safely used to counteract hypotension after spinal anesthesia in patients with uteroplacental insufficiency, pregnancy-induced hypertension, and in non-elective cesarean deliveries. Vasopressor requirements before delivery in high-risk cesarean sections are reduced compared to healthy parturients. Among the articles reviewed, there were no statistically significant differences in umbilical arterial pH, umbilical venous pH, incidence of fetal acidosis, Apgar scores, or maternal hypotension when comparing maternal phenylephrine and ephedrine use. Conclusion From the limited existing data, phenylephrine and ephedrine are both appropriate selections for treating or preventing hypotension induced by neuraxial blockade in high-risk pregnancies. There is no clear evidence that either medication is more effective at maintaining maternal blood pressure or has a superior safety profile in this setting. Further investigations are required to determine the efficacy, ideal dosing regimens, and overall safety of phenylephrine and ephedrine administration in high-risk obstetric patients, especially in the presence uteroplacental insufficiency.
A simple and novel fingerprint image segmentation algorithm

Fingerprint image segmentation is initial part of fingerprint recognition system. Fingerprint segmentation separates fingerprint area from image background. Segmentation is used to avoid extraction of feature in noisy areas that are common in background. In this paper we propose a very simple algorithm that uses Laplacian of Gaussian (LoG) filter, edge filter (LoG based) and morphological operations. This algorithm does not require block wise computation of mean and variance. Proposed algorithm also take advantage of the fact that most fingerprint images are vertical or within 45 degrees to the vertical. The proposed algorithm is applied on FVC2004-DB1, DB2, DB3 and FVC2000-DB3 public database. Experimental results show that algorithm gives good output even for low quality images.
Characterization of the proteins purified with monoclonal antibodies to glutamic acid decarboxylase

Immunoaffinity columns are prepared from the monoclonal antibody (MAb) GAD-1. These columns are used to enrich glutamic acid decarboxylase (GAD) from the cytosolic fraction of rat brain homogenates and from Triton X-100 extracts of the brain membrane fraction. In each case enzyme activity is enriched over 400-fold. The immunopurified fractions were analyzed by SDS-PAGE. Fractions purified from the cytosol consisted of a quantitatively major band of 59 kDa, and one band of 63 kDa, as well as a group centered around 55 kDa. Fractions purified from membranes consisted primarily of the 59 and 63 kDa components; only traces of the lower-molecular-weight components were present. The entire set of proteins purified on GAD-1 immunoaffinity columns is strongly recognized by 2 widely used antisera to GAD, those described in Saito et al. (1974) and Oertel et al. (1981). The 59 kDa protein from the cytosolic fraction was purified to homogeneity by preparative SDS-PAGE; a partial amino acid sequence of this protein was obtained. The 59 kDa protein has a high degree of sequence homology with the deduced amino acid sequence of the protein that was coded for by a cDNA for feline GAD (Kaufman et al., 1986; Kobayashi et al., 1987). Thus, these proteins are either products of a single gene that diverged during the evolution of rat and cat from a common ancestor, or are members of a closely related set of genes found in both species. The MAb GAD-6 recognizes the 59 kDa band and the group of bands centered around 55 kDa on Western blots. Therefore, these proteins are immunochemically related. GAD-6 does not recognize the 63 kDa band. In Western blots of unfractionated homogenates of the whole brain, the only band recognized by GAD-6 is a 59 kDa band. (ABSTRACT TRUNCATED AT 250 WORDS)
An integrated inverse kinematic approach for the 7-DOF humanoid arm with offset wrist

The paper proposes an integrated approach to solve the inverse kinematics of the 7-DOF humanoid arm with offset wrist. Firstly, according to the arm's configuration, the closed-form solutions of inverse kinematics for 7-DOFs arms are developed based on the reverse coordinates method. Secondly, an integrated inverse kinematic approach, termed the modified gradient projection method, is proposed on the condition of closed form solutions and the gradient projection method. Thirdly, thanks to the arm's redundancy, multiple objectives optimization including avoidance of singularity, joint limits and joint velocity limits are completed during motions. And finally, the validity of the closed form solutions and the integrated approach is verified by kinematic simulations, and the integrated approach provides better precision and optimization during trajectory tracking.
A SOCIO-ECOLOGICAL APPROACH TO UNDERSTANDING ADOLESCENT GIRLS' ENGAGEMENT AND EXPERIENCES IN THE PE ENVIRONMENT: A CASE STUDY DESIGN

Adolescence is known to be a period of increased risk for the development of unhealthy behaviours such as physical inactivity (Currie et al., 2011). Low physical activity (PA) levels are especially noted in girls, who typically engage in less PA than boys throughout the teenage years (Whitehead and Biddle 2008). In Scotland, evidence suggests there is a significant decline in PA among adolescent girls, with only 41% of 13−15 year olds achieving the current recommendations, compared with 56% of 11−12 year olds (Scottish Executive, 2011). In addition, a proportion of girls are not engaging with school PE classes (Niven et al., 2014; Kirby et al., 2012). In order to understand more about how and why this decline exists, a sample of 20 ‘disengaged’ 12−13-year-old girls (second year of secondary school) were recruited from four case study schools in Scotland. This study aims to explore the interaction between the social and physical environment, and how these affect disengaged girls’ experiences and engagement in PE. Girls were categorised as ‘disengaged’ from PE if they did not participate regularly and reported negative emotions about the subject. Girls took part in in-depth interviews to explore their experiences and engagement in PE. The theoretical framework is based on Welks (1999) Youth Physical Activity Promotion model (YPAP), a socio-ecological approach which conceptualises the influential correlates of PA as: individual-level predisposing and enabling factors, including personal attributes and environmental variables and reinforcing (social) factors. This model was applied within a Scottish education context to understand the importance of each component and also the interaction between these and the influence that one may have on another. The results indicate that although the type of activity offered in PE is important, it appears that perceptions of competence and the social environment these were delivered in, such as single-sex classes, had more of an influence on girls’ engagement in PE. For this group of Scottish adolescent girls, the wider psychosocial environment in which PE takes place may have a greater impact on levels of enjoyment and participation than the PA itself.
Voltage-scaling scheduling for periodic real-time tasks in reward maximization

This paper is interested in reward maximization of periodic real-time tasks under a given energy constraint, where the reward received depends on how much computation a task runs before its deadline. When voltage scaling could be done at any time, and tasks share the same power consumption function, we propose a greedy algorithm which derives a solution with at least a half of the optimal reward for any input instance. A fully polynomial-time approximation scheme is also proposed by applying the dynamic programming approach so that the ratio of the reward of the derived solution to that of an optimal solution is at least 1 - epsiv under polynomial-time complexity in 1/epsiv for any 0 < epsiv < 1, where epsiv denotes a user-specified tolerable error to the derived solutions. When voltage scaling could be done only when a task instance arrives or terminates, or tasks might have different power consumption functions, we develop an approximation algorithm based on linear programming, which guarantees to derive a solution with at least 1/3 optimal reward for any input instance. A series of experiments was conducted to show the capability of the proposed algorithms in reward maximization
Integrating Quality, Environment, Health and Safety Systems with Customers and Contractors

The value of integrated management systems has been underlined in recent years by the development of a set of aligned ISO management standards for quality, environment and health and safety. The history of implementing an integrated management system aligned to these standards within Amec Process & Energy,* an offshore services contractor, is discussed in this paper with particular reference to environmental management. The implementation process was found to have been strongly influenced by a number a factors including: the background experience of the implementation team; communication between team members; input to the implementation process from quality and health and safety management; the contract nature of company business; the integrated nature of interfaces with clients; and the high level of influence exerted over relatively large numbers of subcontractors. A number of conclusions were drawn from this review, mostly emphasising the need for clarity over plans of action and areas of ambiguity and strong lines of communication between key individuals.
Globalisation: An Old Phenomenon That Needs to Be Rediscovered for Tourism?

Globalisation is a common concept in the social sciences; its meaning, however, is contested. Therefore in the first part the paper provides a framework of the term ‘globalisation’ as well as a definition. This definition is then connected with another contested term: ‘tourism’. In the second part, the research methods used to research globalisation and tourism in a case study area, the Otago Peninsula in Dunedin, New Zealand, are outlined. The research methods are linked with specific historical developments in the case study area in the past, the present and the future. The third part gives some preliminary results of the ongoing research project. Of particular interest is the model that links the history of the Otago Peninsula and its environments, tourism and globalisation.