Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss

Objectives: Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. Methods: Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing loss patients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed. Results: Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results. Conclusion: Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.
A computational fluid dynamics of `clap and fling' in the smallest insects

SUMMARY In this paper, we have used the immersed boundary method to solve the two-dimensional Navier–Stokes equations for two immersed wings performing an idealized `clap and fling' stroke and a `fling' half-stroke. We calculated lift coefficients as functions of time per wing for a range of Reynolds numbers (Re) between 8 and 128. We also calculated the instantaneous streamlines around each wing throughout the stroke cycle and related the changes in lift to the relative strength and position of the leading and trailing edge vortices. Our results show that lift generation per wing during the `clap and fling' of two wings when compared to the average lift produced by one wing with the same motion falls into two distinct patterns. For Re=64 and higher, lift is initially enhanced during the rotation of two wings when lift coefficients are compared to the case of one wing. Lift coefficients after fling and during the translational part of the stroke oscillate as the leading and trailing edge vortices are alternately shed. In addition, the lift coefficients are not substantially greater in the two-winged case than in the one-winged case. This differs from three-dimensional insect flight where the leading edge vortices remain attached to the wing throughout each half-stroke. For Re=32 and lower, lift coefficients per wing are also enhanced during wing rotation when compared to the case of one wing rotating with the same motion. Remarkably, lift coefficients following two-winged fling during the translational phase are also enhanced when compared to the one-winged case. Indeed, they begin about 70% higher than the one-winged case during pure translation. When averaged over the entire translational part of the stroke, lift coefficients per wing are 35% higher for the two-winged case during a 4.5 chord translation following fling. In addition, lift enhancement increases with decreasing Re. This result suggests that the Weis-Fogh mechanism of lift generation has greater benefit to insects flying at lower Re. Drag coefficients produced during fling are also substantially higher for the two-winged case than the one-winged case, particularly at lower Re.
Human Non-Germinal Center B Cell Interleukin (IL)-12 Production Is Primarily Regulated by T Cell Signals CD40 Ligand, Interferon γ, and IL-10: Role of B Cells in the Maintenance of  T Cell Responses

Interleukin (IL)-12 is expressed mainly in antigen-presenting cells after challenge with microbial material or after CD40 activation. Although IL-12 was cloned from human Epstein-Barr virus (EBV)-transformed B cell lines, surprisingly, CD40 ligation on murine B cells did not lead to IL-12 production, suggesting that murine B cells do not produce IL-12. Here we demonstrate that a subset of human tonsillar B cells can be induced to express and secrete bioactive IL-12. The major stimulus to produce IL-12 in human B cells was CD40 ligation. In contrast, B cell receptor cross-linking did not induce IL-12. Expression of IL-12 after CD40 activation was restricted to CD38−IgD± non-germinal center (non-GC) B cells. CD40 ligation and interferon (IFN)-γ exhibited synergistic effects on IL-12 production, whereas IL-10 abrogated and IL-4 significantly inhibited IL-12 production by these B cells. In contrast to IL-12, production of IL-6 is conversely regulated, leading to significant increase after CD40 ligation in the presence of the T helper type 2 (Th2) cytokine IL-4. Cord blood T cells skewed towards either a Th1 or a Th2 phenotype maintained their cytokine expression pattern when restimulated with allogeneic resting B cells. Blockade of CD40 and/or IL-12 during T–B interaction significantly reduced IFN-γ production by the T cells. This suggests a model whereby B cells produce either IL-12 or IL-6 after contact with T cells previously differentiated towards Th1 or Th2. Furthermore, IL-12 and IL-6 might provide a positive feedback during cognate T–B interactions, thereby maintaining T cells' differentiation pattern during amplification of the immune response.
Investigating curing kinetics and structural relaxation phenomena of unsaturated polyester resin containing silanized silica

The effect of the incorporation of silica nanoparticles on structural relaxation and curing kinetics of unsaturated polyester resin was investigated. The evaluations were made monitoring the curing behavior of the neat unsaturated polyester resin and the resin containing 3 wt% SiO2 nanoparticles using dynamic differential scanning calorimetry at heating rates of 2, 2.5, 3, and 3.5℃ min−1. Results revealed a salient increase in the redox activation energy of the unsaturated polyester resin containing silica, while the activation energy of thermal decomposition of peroxide did not show any change. On the interface of nanoparticles and matrix resin, the dissociation reaction of cobalt naphthenate reduced the effect of the promoter. Differential scanning calorimetry was also used to estimate the average size of cooperative rearrangement region of the nanocomposite. Results revealed the possible grafting of unsaturated polyester onto the nanoparticle surface. The attractive interaction between the matrix and nanoparticle hindered segmental relaxation of the polymer chains.
Is Gaining, Losing or Keeping a Self-Identified Fertility Problem Associated with Changes in Self- Esteem?

Adviser: Julia McQuillan Because motherhood is an expected and valued identity in the United States, becoming a mother should lead to an increase in self-esteem and perceiving a problem becoming a mother should lead to a decrease in self-esteem. Little research has examined the combined experience of both identifying with a fertility problem and becoming a mother or not over time. Guided by identity theory framework, this study uses two waves of data from the National Survey of Fertility Barriers (NSFB) to examine how change and stability in motherhood status and perceived fertility barrier status is associated with changes in self-esteem among women who initially were not mothers. Results revealed that gaining or losing a fertility problem identity was not associated with changes in self-esteem; however, becoming a mother was associated with increased self-esteem. The persistence of a fertility problem identity was associated with a decrease in self-esteem for those who did not become a mother and increased self-esteem for those who did become a mother. Women who did not report a fertility problem at either interview and became a mother by wave 2 had a significant increase in self-esteem between waves. A small group of women became mothers and identified a fertility problem at wave two; this group had a substantial increase in self-esteem, and the association was larger for older compared to younger women. These findings suggest that becoming a mother has a bigger impact on a woman's self-esteem than perceiving a fertility problem.
Priming Wharton's Jelly‐Derived Mesenchymal Stromal/Stem Cells With ROCK Inhibitor Improves Recovery in an Intracerebral Hemorrhage Model

Mesenchymal stromal/stem cells (MSCs) have the potential to differentiate into neuron‐like cells under specific conditions and to secrete paracrine factors for neuroprotection and regeneration. Previously, Rho‐kinase inhibitors have been reported to potentiate differentiation of rodent bone marrow MSCs into neuron‐like cells induced by CoCl2 (HIF‐1α activation‐mimicking agent). Here, a strategy of priming MSCs with fasudil, a Rho‐kinase inhibitor, was investigated using Wharton's jelly‐derived MSCs (WJ‐MSCs) to improve recovery in a rat model of intracranial hemorrhage (ICH). In vitro culture of WJ‐MSCs by co‐treatment with fasudil (30 μM) and CoCl2 provoked morphological changes of WJ‐MSCs into neuron‐like cells and increased the expression of neuronal markers. Assessment of the secretion profiles showed that fasudil (30 μM) specifically increased glial cell line‐derived neurotrophic factor (GDNF) among the secreted proteins at the transcription and secretion levels. For in vivo experiments, WJ‐MSCs primed with fasudil (10 μM, exposure for 6 h) were transplanted into ICH rats with HIF‐1α upregulation 1 week after injury, and neurological function was assessed via rotarod and limb placement tests for 7 weeks after transplantation. The group with WJ‐MSCs primed with fasudil showed improved functional performance compared with the non‐primed group. Accordingly, the primed group showed stronger expression of GDNF and higher levels of microtubule‐associated protein 2 and neurofilament‐H positive‐grafted cells in the ICH lesion 3 weeks after transplantation compared with the non‐primed group. Therefore, this work suggests that priming WJ‐MSCs with fasudil is a possible application for enhanced cell therapy in stroke, with additional beneficial effect of up‐regulation of GDNF. J. Cell. Biochem. 116: 310–319, 2015. © 2014 Wiley Periodicals, Inc.
An empirical study of software maintenance of a Web-based Java application

This paper presents empirical study detailing software maintenance for Web-based Java applications to aid in understanding and predicting the software maintenance category and effort. The specific application described is a Java Web-based administrative application in the e-Government arena. The application is based on the design of an open source model-view-controller framework. The domain factors, which also provide contextual references, are described based on Kitchenham et al.'s software maintenance ontology. This paper characterizes the number of fault reports and maintenance effort for each maintenance category. This study finds that the distribution of software maintenance effort in this observed Web-based Java application is similar to the distribution in previous software maintenance studies, which analyzed non object-oriented and non Web-based applications.
Endometrial Hyperplasia: A Review

Endometrial hyperplasia is a precursor to the most common gynecologic cancer diagnosed in women: endometrial cancer of endometrioid histology. It is most often diagnosed in postmenopausal women, but women at any age with unopposed estrogen from any source are at an increased risk for developing endometrial hyperplasia. Hyperplasia with cytologic atypia represents the greatest risk for progression to endometrial carcinoma and the presence of concomitant carcinoma in women with endometrial hyperplasia. Abnormal uterine bleeding is the most common presenting symptom of endometrial hyperplasia. Specific Pap smear findings and endometrial thickness per ultrasound could also suggest the diagnosis. Unopposed estrogen in women taking hormone replacement therapy increases the risk of endometrial hyperplasia. Tamoxifen has demonstrated its efficacy in treating women at risk for breast cancer, but it increases the risk of endometrial hyperplasia. The choice of treatment for endometrial hyperplasia is dependent on patient age, the presence of cytologic atypia, the desire for future childbearing, and surgical risk. Endometrial hyperplasia without atypia responds well to progestins. However, women with atypical hyperplasia should be treated with hysterectomy unless other factors preclude surgery. Target Audience: Obstetricians & Gynecologists, Family Physicians. Learning Objectives: After completion of this article, the reader should be able to describe the definition and classification of endometrial hyperplasia, to outline the clinical features of a patient with endometrial hyperplasia, to point out the natural history of endometrial hyperplasia, and to summarize the diagnostic options for patients with endometrial hyperplasia.
Astroglia‐released factor shows similar effects as benzodiazepine inverse agonists

Media conditioned by cultured neonatal cerebral cortex microexplants (CCM) or astrocytes (ACM) contain low molecular weight (<1,000 Da) substance(s) which inhibits the gamma aminobutyric acid (GABA)‐induced inward current recorded in cerebellar granule cells and hippocampal neurons in culture using the whole‐cell patch‐clamp technique. This effect is specific for CCm and ACM, as medium conditioned by PC12 cells (PC12CM) does not affect the GABA response of these cells. It is also specific for GABA‐induced currents because glutamate‐induced currents do not change either in amplitude or in shape in the presence of CCM or ACM. The inhibitory effect on the GABA response in cerebellar granule cells of both ACM and CCM could be suppressed by flumazenil, a specific benzodiazepine (BZD) antagnoist and could be mimicked by two BZD inverse agonists. These data thus demonstrate the presence of a BZD inverse agonist‐like activity in CCM and ACM. This effect of ACM on different neuronal cell types was heterogenous since no detectable effect could be observed on the GABA‐induced current in GABA‐responsive dorsal root ganglion (DRG) neurons, presumably reflecting a functional heterogeneity of the GABAA receptors present in these different neuronal subsets. By the release of such an endogenous BZD inverse agonist like activity, glia cells could possibly modulate GABAA receptor‐mediated responses. © 1994 Wiley‐Liss, Inc.
Flexural Strengthening of RC Beams with an Externally Bonded Fabric-Reinforced Cementitious Matrix

AbstractConcrete structures deteriorate for various reasons and upgrading is needed to ensure their continued safe working conditions. Retrofitting reinforced concrete (RC) beams have been accomplished using various techniques, namely, steel plates, external posttensioning, externally bonded fiber-reinforced polymer (FRP), and near-surface-mounted FRP systems to increase flexural and shear capacity. The objective of this paper is to investigate the feasibility of fabric-reinforced cementitious-matrix (FRCM) materials as an alternative external strengthening technique for RC members. The FRCM is a composite material consisting of one or more layers of cement-based matrix reinforced with dry-fiber fabric. The experimental program consists of testing 18 RC beams strengthened in flexure with two different FRCM schemes (one and four reinforcement fabrics). An analysis and design are conducted following the well-established formulation to calculate the flexural capacity of the beams and compare their results wi.
Wilkinson Microwave Anisotropy Probe (WMAP) Three Year Results: Implications for Cosmology

A simple cosmological model with only six parameters (matter density, Omega_m h^2, baryon density, Omega_b h^2, Hubble Constant, H_0, amplitude of fluctuations, sigma_8, optical depth, tau, and a slope for the scalar perturbation spectrum, n_s) fits not only the three year WMAP temperature and polarization data, but also small scale CMB data, light element abundances, large-scale structure observations, and the supernova luminosity/distance relationship. Using WMAP data only, the best fit values for cosmological parameters for the power-law flat LCDM model are (Omega_m h^2, Omega_b h^2, h, n_s, tau, sigma_8) = 0.1277+0.0080-0.0079, 0.02229+-0.00073, 0.732+0.031-0.032, 0.958+-0.016, 0.089+-0.030, 0.761+0.049-0.048). The three year data dramatically shrink the allowed volume in this six dimensional parameter space. Assuming that the primordial fluctuations are adiabatic with a power law spectrum, the WMAP data_alone_ require dark matter, and favor a spectral index that is significantly less than the Harrison-Zel'dovich-Peebles scale-invariant spectrum (n_s=1, r=0). Models that suppress large-scale power through a running spectral index or a large-scale cut-off in the power spectrum are a better fit to the WMAP and small scale CMB data than the power-law LCDM model; however, the improvement in the fit to the WMAP data is only Delta chi^2 = 3 for 1 extra degree of freedom. The combination of WMAP and other astronomical data yields significant constraints on the geometry of the universe, the equation of state of the dark energy, the gravitational wave energy density, and neutrino properties. Consistent with the predictions of simple inflationary theories, we detect no significant deviations from Gaussianity in the CMB maps.
Normal Striatal Vesicular Acetylcholine Transporter Expression in Tourette Syndrome

Abstract Considerable prior work suggests basal ganglia dysfunction in Tourette syndrome (TS). Analysis of a small number of postmortem specimens suggests deficits of some striatal interneuron populations, including striatal cholinergic interneurons. To assess the integrity of striatal cholinergic interneurons in TS, we used [18F]FEOBV positron emission tomography (PET) to quantify striatal vesicular acetylcholine transporter (VAChT) expression, a measure of cholinergic terminal density, in human TS and control subjects. We found no evidence of striatal cholinergic deficits. Discrepant imaging and postmortem analysis results may reflect agonal or postmortem changes, medication effects, or significant disease heterogeneity.
Cement-based bearing pads for precast concrete connections

This paper reports some new results for cement-based bearing pads for precast concrete connections. The pads were composed of Portland cement mortar, incorporating heat-expanded vermiculite, latex and short fibres. These ingredients were used to obtain a cement-based material of greater deformability and higher toughness in comparison with ordinary cement mortar, to transfer compressive stresses in an appropriate manner. The paper presents a means of obtaining the range of material admixtures based on the mechanical characteristics of the material and the concentrated load tests on bearing pad strips. Uniform compression load tests on bearing pads, with monotonic and cyclic load, and uniform compression load tests on two concrete blocks connected by bearing pads were performed. Based on the experimental results, the main conclusions are: (a) the vermiculite amount should be around 10%; (b) after 1200 cycles, bearing pads do not exhibit appreciable plastic deformation or rigidity deterioration, showing res.
A set of multi-touch graph interaction techniques

Interactive node-link diagrams are useful for describing and exploring data relationships in many domains such as network analysis and transportation planning. We describe a multi-touch interaction technique set (IT set) that focuses on edge interactions for node-link diagrams. The set includes five techniques (TouchPlucking, TouchPinning, TouchStrumming, TouchBundling and PushLens) and provides the flexibility to combine them in either sequential or simultaneous actions in order to address edge congestion.
The neuroscience of social conformity: implications for fundamental and applied research

The development of closer ties between researchers and practitioners in the domain of behavior and behavioral change offers useful opportunities for better informing public policy campaigns via a deeper understanding of the psychological processes that operate in real-world decision-making. Here, we focus on the domain of social conformity, and suggest that the recent emergence of laboratory work using neuroscientific techniques to probe the brain basis of social influence can prove a useful source of data to better inform models of conformity. In particular, we argue that this work can have an important role to play in better understanding the specific mechanisms at work in social conformity, in both validating and extending current psychological theories of this process, and in assessing how behavioral change can take place as a result of exposure to the judgments of others. We conclude by outlining some promising future directions in this domain, and indicating how this research could potentially be usefully applied to policy issues.
On Online Control of False Discovery Rate

Multiple hypotheses testing is a core problem in statistical inference and arises in almost every scientific field. Given a sequence of null hypotheses $\mathcal{H}(n) = (H_1,., H_n)$, Benjamini and Hochberg \cite{benjamini1995controlling} introduced the false discovery rate (FDR) criterion, which is the expected proportion of false positives among rejected null hypotheses, and proposed a testing procedure that controls FDR below a pre-assigned significance level. They also proposed a different criterion, called mFDR, which does not control a property of the realized set of tests; rather it controls the ratio of expected number of false discoveries to the expected number of discoveries. In this paper, we propose two procedures for multiple hypotheses testing that we will call "LOND" and "LORD". These procedures control FDR and mFDR in an \emph{online manner}. Concretely, we consider an ordered --possibly infinite-- sequence of null hypotheses $\mathcal{H} = (H_1,H_2,H_3,.)$ where, at each step $i$, the statistician must decide whether to reject hypothesis $H_i$ having access only to the previous decisions. To the best of our knowledge, our work is the first that controls FDR in this setting. This model was introduced by Foster and Stine \cite{alpha-investing} whose alpha-investing rule only controls mFDR in online manner. In order to compare different procedures, we develop lower bounds on the total discovery rate under the mixture model and prove that both LOND and LORD have nearly linear number of discoveries. We further propose adjustment to LOND to address arbitrary correlation among the $p$-values. Finally, we evaluate the performance of our procedures on both synthetic and real data comparing them with alpha-investing rule, Benjamin-Hochberg method and a Bonferroni procedure.
Data‐Driven Estimation of Cloth Simulation Models

Progress in cloth simulation for computer animation and apparel design has led to a multitude of deformation models, each with its own way of relating geometry, deformation, and forces. As simulators improve, differences between these models become more important, but it is difficult to choose a model and a set of parameters to match a given real material simply by looking at simulation results. This paper provides measurement and fitting methods that allow nonlinear models to be fit to the observed deformation of a particular cloth sample. Unlike standard textile testing, our system measures complex 3D deformations of a sheet of cloth, not just one‐dimensional force‐displacement curves, so it works under a wider range of deformation conditions. The fitted models are then evaluated by comparison to measured deformations with motions very different from those used for fitting.
Eigenvalue inequalities and Schubert calculus

Using techniques from algebraic topology we derive linear inequalities which relate the spectrum of a set of Hermitian matrices A1 , . , Ar ∈ C n×n with the spectrum of the sum A1 + · · · + Ar . These extend eigenvalue inequalities due to Freede-Thompson and Horn for sums of eigenvalues of two Hermitian matrices.