Miracle-dz/UniFAR-FTUs huggingface dataset:
A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Next-generation sequencing technology allows simultaneous analysis of multiple susceptibility genes for clinical cancer genetics. In this study, multiplex genetic testing was conducted in a Chinese family with multiple cases of cancer to determine the variations in cancer predisposition genes. The family comprises a mother and her five daughters, of whom the mother and the eldest daughter have cancer and the secondary daughter died of cancer. We conducted multiplex genetic testing of 90 cancer susceptibility genes using the peripheral blood DNA of the mother and all five daughters. WRN frameshift mutation is considered a potential pathogenic variation according to the guidelines of the American College of Medical Genetics. A novel WRN frameshift mutation (p.N1370Tfs*23) was identified in the three cancer patients and in the youngest unaffected daughter. Other rare non-synonymous germline mutations were also detected in DICER and ELAC2. Functional mutations in WRN cause Werner syndrome, a human autosomal recessive disease characterized by premature aging and associated with genetic instability and increased cancer risk. Our results suggest that the WRN frameshift mutation is important in the surveillance of other members of this family, especially the youngest daughter, but the pathogenicity of the novel WRN frameshift mutation needs to be investigated further. Given its extensive use in clinical genetic screening, multiplex genetic testing is a promising tool in clinical cancer surveillance.
Structural properties of scale‐free networks

Many networks have been reported recently to follow a scalefre degree distribution in which the fraction of sites having k connections follows a power law: P (k) = k . In this chapter we study the structural properties of such networks. We show that the average distance between sites in scale-free networks is much smaller than that in regular random networks, and bears an interesting dependence on the degree exponent . We study percolation in scale-free networks and show that in the regime 2 < < 3 the networks are resilient to random breakdown and the percolation transition occurs only in the limit of extreme dilution. On the other hand, attack of the most highly connected nodes easily disru pt the nets. We compute the percolation critical exponents and find that percolation in sca le-free networks is non-universal, i.e. depends on and different from the mean-field behavior in dimensions d 6. Finally, we suggest a novel and efficient method for immunization agains t the spread of diseases in social networks, or the spread of viruses and worms in computer netw orks.
RNA polymerase mutants found through adaptive evolution reprogram Escherichia coli for optimal growth in minimal media

Specific small deletions within the rpoC gene encoding the β′-subunit of RNA polymerase (RNAP) are found repeatedly after adaptation of Escherichia coli K-12 MG1655 to growth in minimal media. Here we present a multiscale analysis of these mutations. At the physiological level, the mutants grow 60% faster than the parent strain and convert the carbon source 15–35% more efficiently to biomass, but grow about 30% slower than the parent strain in rich medium. At the molecular level, the kinetic parameters of the mutated RNAP were found to be altered, resulting in a 4- to 30-fold decrease in open complex longevity at an rRNA promoter and a ∼10-fold decrease in transcriptional pausing, with consequent increase in transcript elongation rate. At a genome-scale, systems biology level, gene expression changes between the parent strain and adapted RNAP mutants reveal large-scale systematic transcriptional changes that influence specific cellular processes, including strong down-regulation of motility, acid resistance, fimbria, and curlin genes. RNAP genome-binding maps reveal redistribution of RNAP that may facilitate relief of a metabolic bottleneck to growth. These findings suggest that reprogramming the kinetic parameters of RNAP through specific mutations allows regulatory adaptation for optimal growth in new environments.
Effect of skill development of haptic shared control in backward parking assist

Advanced driver assistance systems (ADASs), such as parking assist, are widely used. ADASs have successfully reduced driver's workload. On the other hand, it is thought that it is important to improve the skill of the driver. The present study aims to establish a methodology for using an ADAS to achieve compatibility between decreasing the driver's workload and increasing the driver's skill. The present study focused on the assist system by haptic shared control (HSC) for backward parking maneuvers, which are considered to be a demanding task for novice drivers. The purpose of the present study was to investigate the effect of the HSC gain settings on the performance increase during and after the use of the system. First, we proposed a method to assist the driver's parking operation using the HSC. The proposed method displays torque around the steering wheel based on vehicle position feedback to reduce its error from the desired position, and steering angle feedback to reduce its error from the desired steering wheel angle, as determined by the preview driver model. Driving simulator experiments with various combinations of feedback gains demonstrated that skill improvements were achieved after and during the intervention when a higher gain is employed in the steering angle feedback term.
Effects of Perceptual Fluency on Affective Judgments

According to a two-step account of the mere-exposure effect, repeated exposure leads to the subjective feeling of perceptual fluency, which in turn influences liking. If so, perceptual fluency manipulated by means other than repetition should influence liking. In three experiments, effects of perceptual fluency on affective judgments were examined. In Experiment 1, higher perceptual fluency was achieved by presenting a matching rather than nonmatching prime before showing a target picture. Participants judged targets as prettier if preceded by a matching rather than nonmatching prime. In Experiment 2, perceptual fluency was manipulated by figure-ground contrast. Stimuli were judged as more pretty, and less ugly, the higher the contrast. In Experiment 3, perceptual fluency was manipulated by presentation duration. Stimuli shown for a longer duration were liked more, and disliked less. We conclude (a) that perceptual fluency increases liking and (b) that the experience of fluency is affectively positive, and hence attributed to positive but not to negative features, as reflected in a differential impact on positive and negative judgments.
Ellipticity of dark matter haloes with galaxy–galaxy weak lensing

We present the results of attempts to detect the ellipticity of dark matter haloes using galaxy-galaxy weak lensing with Sloan Digital Sky Survey (SDSS) data. We use 2020256 galaxies brighter than r = 19 with photometric redshifts (divided into colour and luminosity sub-samples) as lenses and 31 697 869 source galaxies. We search for and identify several signal contaminants, which if not removed lead to a spurious detection. These include systematic shear that leads to a slight spurious alignment of lens and source ellipticities, intrinsic alignments (due to contamination of the source sample by physically associated lens-source pairs). and anisotropic magnification bias. We develop methods that allow us to remove these contaminants to the signal. We split the analysis into blue (spiral) and red (elliptical) galaxies. Assuming Gaussian errors as in previous work and a power-law profile, we find f h = e h /e g = 0.1 ± 0.06 for red galaxies and -0.8 ± 0.4 for blue galaxies, using transverse separations of 20-300 h -1 kpc, averaged over luminosity. Inclusion of the more realistic non-Gaussian error distributions and of the Navarro-Frenk-White (NFW) density profile (which predicts much smaller ellipticity of the shear for scales above the scale radius) yields 0.60 ± 0.38 for ellipticals and -1.4 +1.7 -2.0 for spirals. While there is no concrete detection of alignment in either case, there is a suggestion in the data of a positive alignment in the brightest lens sample of ellipticals. Our results appear to be mildly inconsistent with a previously reported detection by Hoekstra, Yee & Gladders, but more data and further tests are needed to clarify whether4 the discrepancy is real or a consequence of differences in the lens galaxy samples used and analysis methods.
Stroke Units in Their Natural Habitat: Systematic Review of Observational Studies

Background and Purpose— Within clinical trials, stroke patients allocated to receive organized inpatient (stroke unit) care are more likely to survive, return home, and regain independence than those allocated to conventional care. However, there are concerns that the benefits seen in clinical trials may not be replicated in routine practice. We carried out a systematic review of observational studies of stroke unit implementation. Methods— We searched (up to January 2006) MEDLINE, EMBASE, CINAHL, Cochrane Library, British Nursing Index, Cochrane Stroke Group register, and recent conference abstracts for observational studies that compared the outcomes of stroke patients managed in a stroke unit versus non–stroke unit care. We excluded studies that did not describe either matching for baseline prognostic factors or adjustment for case-mix characteristics. The primary outcome was death within 1 year. We also recorded poor outcome (death, institutional care, or dependency). Data analysis used the generic inverse variance method in Revman 4.2. Where raw data were provided, effect sizes and variances were calculated accordingly. We used a random-effects model and explored for sources of heterogeneity. Results— We identified 72 articles describing stroke unit outcomes; 25 were eligible for review; and 18 provided data on case fatality or poor outcome. Stroke unit care was associated with significantly reduced odds of death (odds ratio=0.79, 95% CI=0.73 to 0.86; P<0.00001) and of death or poor outcome (odds ratio=0.87, 95% CI=0.80 to 0.95; P=0.002) within 1 year of stroke. Results were complicated by significant heterogeneity (P<0.05), mainly in single-center studies. Conclusions— Although these results are complicated by potential bias and heterogeneity, the observed benefit associated with stroke unit care in routine practice is comparable to that in clinical trials.
How competent are cat owners in caring for their cats?

Objective. This study was conducted to determine the perceptions of cat owners in Türkiye regarding the welfare conditions of their cats and their attitudes and knowledge levels during the care of their cats. Materials and methods. The research material consists of data obtained from questionnaires conducted with 494 cat owners. Results. Among cat owners, 98.6% kept cat food in closed boxes and 93.5% took precautions to prevent their cats from accessing household chemicals. In this study, according to the answers given by the participants to the questionnaire questions, statistically significant differences were found between the options in terms of their answers to all other questions, except for the answers given by the cat owners to the questions of whether they use nets for their cats on the windows and/or balconies of their houses and the frequency of changing the litter of their cats (p<0.01). Conclusions. It was determined that the majority of cat owners were generally correct and adequate in terms of their attitudes and knowledge levels during the care of their cats. However, it has been determined that cat owners do not have sufficient and correct information and preferences about using nets for their cats for protective purposes in the windows and balconies of their houses, giving their cats additional foods such as sausage, salami, sausage.
Audiovisual integration of speech in a patient with Broca's Aphasia

Lesions to Broca's area cause aphasia characterized by a severe impairment of the ability to speak, with comparatively intact speech perception. However, some studies have found effects on speech perception under adverse listening conditions, indicating that Broca's area is also involved in speech perception. While these studies have focused on auditory speech perception other studies have shown that Broca's area is activated by visual speech perception. Furthermore, one preliminary report found that a patient with Broca's aphasia did not experience the McGurk illusion suggesting that an intact Broca's area is necessary for audiovisual integration of speech. Here we describe a patient with Broca's aphasia who experienced the McGurk illusion. This indicates that an intact Broca's area is not necessary for audiovisual integration of speech. The McGurk illusions this patient experienced were atypical, which could be due to Broca's area having a more subtle role in audiovisual integration of speech. The McGurk illusions of a control subject with Wernicke's aphasia were, however, also atypical. This indicates that the atypical McGurk illusions were due to deficits in speech processing that are not specific to Broca's aphasia.
Mechanical control of mitotic progression in single animal cells

Significance In animal tissue, most adherent cells round up against confinement to conduct mitosis. Impaired cell rounding is thought to perturb tissue development and homeostasis and contribute to progression of cancer. Due to the lack of suitable experimental tools, however, insight into the mechanical robustness of mitosis in animal cells remains limited. Here we introduce force-feedback–controlled ion beam-sculpted cantilevers to confine single cells and characterize their progression through mitosis. Our approach reveals critical yield forces that trigger cell cortex herniation, loss of F-actin homogeneity, dissipation of intracellular pressure, critical cell-height decrease, mitotic spindle defects, and resultant perturbation of mitotic progression. Despite the importance of mitotic cell rounding in tissue development and cell proliferation, there remains a paucity of approaches to investigate the mechanical robustness of cell rounding. Here we introduce ion beam-sculpted microcantilevers that enable precise force-feedback–controlled confinement of single cells while characterizing their progression through mitosis. We identify three force regimes according to the cell response: small forces (∼5 nN) that accelerate mitotic progression, intermediate forces where cells resist confinement (50–100 nN), and yield forces (>100 nN) where a significant decline in cell height impinges on microtubule spindle function, thereby inhibiting mitotic progression. Yield forces are coincident with a nonlinear drop in cell height potentiated by persistent blebbing and loss of cortical F-actin homogeneity. Our results suggest that a buildup of actomyosin-dependent cortical tension and intracellular pressure precedes mechanical failure, or herniation, of the cell cortex at the yield force. Thus, we reveal how the mechanical properties of mitotic cells and their response to external forces are linked to mitotic progression under conditions of mechanical confinement.
Exploiting Unlabelled Data for Hybrid Object Classification

We propose a semi-supervised learning algorithm for visual object categorization which utilizes statistical information from unlabelled data to increase classification performance. We build on an earlier hybrid generative-discriminative approach by Holub et al. [6] which extracts Fisher scores from generative models. The hybrid model allows us to combine the modelling power and flexibility of generative models with discriminative classifiers. Here we illustrate how the generative framework can be used to add prior knowledge obtained from unlabelled images, which the discriminative classifier can subsequently exploit. We illustrate the effects of using different sets of images as prior knowledge and find that the greatest benefits are incurred when the prior exemplars have similar statistics to the classes being discriminated between. Our tests show that strong performance (85%) can be obtained in discriminating between the faces of two different people using prior knowledge and only 2-3 training examples. Furthermore, we extend our approach to multi-class discrimination and show state-of-the-art performance on the Caltech101.
OmniStore: a system for ubiquitous personal storage management

As personal area networking becomes a reality, the collective management of storage in portable devices such as mobile phones, cameras and music players will grow in importance. The increasing wireless communication capability of such devices makes it possible for them to interact with each other and implement more advanced storage functionality. This paper introduces OmniStore, a system which employs a unified data management approach that integrates portable and backend storage, but also exhibits self-organizing behavior through spontaneous device collaboration
GPU-Framework for Teamwork Action Recognition

Real time processing for teamwork action recognition is a challenge, due to complex computational models to achieve high system performance. Hence, this paper proposes a framework based on Graphical Processing Units (GPUs) to achieve a significant speed up in the performance of role based activity recognition of teamwork. The framework can be applied in various fields, especially athletic and military applications. Furthermore, the framework can be customized for many action recognition applications. The paper presents the stages of the framework where GPUs are the main tool for performance improvement. The speedup is achieved by performing video processing and Machine learning algorithms on GPU. Video processing and machine learning algorithms covers all computations involved in our framework. Video processing tasks on involves GPU implementation of Motion detection, segmentation and object tracking algorithms. In addition, our framework is integrated with GPUCV, a GPU version of OpenCV functions. Machine learning tasks are supported under our framework with GPU implementations of Support Vector Machine (SVM) for object classification and feature discretization, Hidden Marcov Model (HMM) for activity recognition phase, and ID3 algorithm for role recognition of team members. The system was tested against UC-Teamwork dataset and speedup of 20X has been achieved on NVidia 9500GT graphics card (32 500MHZ processors).
Effect of sugarcane propagation methods and varieties under drip fertigation system

A field experiment was conducted in farmer owned land located in Varaghanathi river basin to demonstrate the yield performance of sugarcane varieties grown with chip bud method of propagation in combination with drip fertigation system. The study revealed that sugarcane propagated using chip bud method expressed significant growth performance in sugarcane. The plant height and number of tillers did not express any significant results invariable to method of propagation and varieties. The chip bud method of propagation recorded significantly higher millable cane (74.0), cane girth (3.04cm), cane weight (2.47 kg) and cane yield (135.9 t ha -1 ) at the time of harvest as compared to sett method. However, average cane yield was significantly higher under variety Co86032 (159.0 t ha -1 ) as compared to other ruling varieties in the study region. The lowest cane yield was recorded in variety PI 1401. However, there was no interaction observed between the method of propagation and sugarcane varieties. It can be concluded that chip bud method of propagation in sugarcane would increase significant cane yield as influenced sub surface drip fertigation that lower the mortality of canes.
Reexamination of a Meta-Analysis of the Effect of Antioxidant Supplementation on Mortality and Health in Randomized Trials

A recent meta-analysis of selected randomized clinical trials (RCTs), in which population groups of differing ages and health status were supplemented with various doses of β-carotene, vitamin A, and/or vitamin E, found that these interventions increased all-cause mortality. However, this meta-analysis did not consider the rationale of the constituent RCTs for antioxidant supplementation, none of which included mortality as a primary outcome. As the rationale for these trials was to test the hypothesis of a potential benefit of antioxidant supplementation, an alternative approach to a systematic evaluation of these RCTs would be to evaluate this outcome relative to the putative risk of greater total mortality. Thus, we examined these data based on the primary outcome of the 66 RCTs included in the meta-analysis via a decision analysis to identify whether the results provided a positive (i.e., benefit), null or negative (i.e., harm) outcome. Our evaluation indicated that of these RCTs, 24 had a positive outcome, 39 had a null outcome, and 3 had a negative outcome. We further categorized these interventions as primary (risk reduction in healthy populations) or secondary (slowing pathogenesis or preventing recurrent events and/or cause-specific mortality) prevention or therapeutic (treatment to improve quality of life, limit complications, and/or provide rehabilitation) studies, and determined positive outcomes in 8 of 20 primary prevention studies, 10 of 34 secondary prevention studies, and 6 out of 16 therapeutic studies. Seven of the eight RCTs with a positive outcome in primary prevention included participants in a population where malnutrition is frequently described. These results suggest that analyses of potential risks from antioxidant supplementation should be placed in the context of a benefit/risk ratio.
Improving recombinant protein production in the Chlamydomonas reinhardtii chloroplast using vivid Verde Fluorescent Protein as a reporter

Abstract Microalgae have potential as platforms for the synthesis of high‐value recombinant proteins due to their many beneficial attributes including ease of cultivation, lack of pathogenic agents, and low‐cost downstream processing. However, current recombinant protein levels are low compared to other microbial platforms and stable insertion of transgenes is available in only a few microalgal species. We have explored different strategies aimed at increasing growth rate and recombinant protein production in the Chlamydomonas reinhardtii chloroplast. A novel fluorescent protein (vivid Verde Fluorescent Protein, VFP) was expressed under the control of the native atpA promoter/5'UTR element. VFP levels were detected by western blotting, with increased protein levels observed when co‐expressed with a gene encoding the Escherichia coli Spy chaperone. We used these transformant lines to study the effect of temperature, light and media on recombinant protein production and cell growth. VFP levels and fluorescence, assessed by flow cytometry, allowed a determination of improved cultivation conditions as 30°C under mixotrophic mode. These conditions were tested for the accumulation of an antimicrobial endolysin (Cpl‐1) of potential commercial interest, observing that the outcome obtained for VFP could not be easily replicated for Cpl‐1. This study suggests that recombinant protein expression is product‐specific and needs to be optimized individually.