Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase (GNE), as the mutated gene in the prototype form of the disease presenting quadriceps sparing, particularly common in Middle Eastern Jews. Interestingly, we have identified the homozygous M712T Middle Eastern Jewish mutation also in two unrelated Middle Eastern Moslem families. We have also evaluated the involvement of GNE in several families from worldwide non‐Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype. A total of 14 GNE mutations were identified (one nonsense and 13 missense), of which six are novel: an homozygous missense mutation in a consanguineous family from Italy and in a non consanguineous family from USA, and distinct compound heterozygotes in families from Germany, Italy, Ireland, Bahamas, USA and East India. This study brings to 17 the number of reported GNE mutations in quadriceps sparing myopathy, occurring either in the epimerase or the kinase domain of the enzyme. The mechanism leading to this unique phenotype still remains to be elucidated. © 2002 Wiley‐Liss, Inc.
The Relation Between Mastery, Anticipated Stigma and Depression Among Older Adults in a Primary Care Setting

Abstract The current study evaluates the interaction between mastery, depression, and psychological barriers to care among older adults in a primary care setting, including the longitudinal effects of anticipated stigma and mastery on depressive symptoms. The sample was composed of 70 depressed older adults (age ≥ 60) who were newly recommended antidepressant treatment by their physicians. This cohort is part of a larger study examining the usefulness of the Treatment Initiation and Participation program to improve medication adherence. Anticipated stigma significantly predicted greater depression among older adults with low mastery, but not among those with high mastery. Mastery was found to moderate the relationship between anticipated stigma and depressive symptoms among older adults. Increased mastery over 28 weeks was also associated with greater reductions in depressive symptoms at follow-up, controlling for antidepressant strength and adherence. Bolstering older adults' sense of mastery in treatment could provide a source of resilience for older adults facing depression.
An approach to align business and IT perspectives during the SOA services identification

Service-oriented architectures are a widely used business practice to develop enterprise information systems. However, the current analysis and design methods consider the software engineering perspective only, what is not sufficient for a proper alignment between business and IT, resulting in demand for new approaches offering the business perspective as well. Such new approaches are required crucial to identify software services that are aligned to the business values, hence contributing to customer satisfaction. This paper describes an approach that focuses on business value modeling and uses model-driven techniques to generate the input required by current software service identification methods, thus aligning business and software perspectives. This approach was evaluated in two parts. First, a quasi-experiment evaluates the perceived efficacy of the business perspective, and a proof-of-concept tool was built to check the feasibility of generating typical inputs needed by software service identification methods. The results show a promising approach for the alignment of business and IT perspectives.
A ew Hybrid Multi-Level Voltage-Source Converter with DC Fault Blocking Capability

Voltage-Source Converters have brought numerous advantages to HVDC transmission. However, they suffer from high losses and are usually weak against faults on the DC-side. In this paper, a new topology which brings together some concepts from traditional Current Source Converters and multi-level converters, is presented. Two stacks of Hbridge cells alternate to construct the converter voltage using director switches made of IGBTs in series. The resulting converter generates AC current with low harmonic content and with low loss. Furthermore, the converter is still very responsive in case of a fault. This paper first explains the composition and the working of this converter, then detailed simulations at 20 MW illustrate the performances and low losses of this converter under normal conditions. The ability of this topology to deal with abnormal conditions is also demonstrated, especially its ability to keep control of the current despite the collapse of the DC bus voltage, e.g. a DCside fault.
Multi resolution discriminative models for subvocalic speech recognition

In this work, we investigate the use of discriminative models for automatic speech recognition of subvocalic speech via surface electromyography (sEMG). We also investigate the suitability of multiresolution analysis in the form of discrete wavelet transform (DWT) for sEMG-based speech recognition. We examine appropriate dimensionality reduction techniques for features extracted using different wavelet families and compare our re-sults with the conventional mel-frequency cepstral coefﬁcients (MFCC) used in speech recognition. Our results indicate that a simple model fusion between cepstral and wavelet domain features can achieve superior recognition performance. Fusing the MFCC and wavelet based SVM models using principal component analysis for feature reduction yields the best performance, with a mean accuracy of 95.13% over a set of nine speakers on a 65 word closed vocabulary task.
Ultrafast pulse discharge and recharge capabilities of thin-metal film battery technology

BOLDER Technologies Corporation has developed an ultrathin-plate, valve-regulated, lead-acid battery technology that is, in essence, a high specific energy electrochemical supercapacitor. Because of its unique construction comprised of extremely thin plates (0.010", 0.25 mm or less in thickness) with very high active surface areas, the BOLDER/sup (R)/ cell has the capability to deliver extremely high discharge currents, in either a continuous or pulsed duty cycle. Heavy-duty, high-contact area current collectors also contribute to the ability to deliver high discharge currents (estimated at up to 1000 A for the 2 V/1.2 Ah single cell). The same characteristics permit full recharges following complete discharges in as little as 2-4 minutes. The cell also has extremely fast response characteristics and, due to its construction, will experience minimal voltage-time waveform distortion due to inductive effects. It has been demonstrated that the technology is scalable to smaller and larger cell sizes and it can be configured in prismatic as well as spiral-wound envelopes. These performance attributes and design flexibility make TMF/sup TM/ technology very well suited for high-current pulsed-power applications, superior to other battery systems and comparable to supercapacitors, all with high specific energy and at a relatively low cost.
Digital Sliding Mode Prediction Control of Piezoelectric Micro/Nanopositioning System

This brief presents the design, analysis, and verification of a new scheme of digital sliding mode prediction control (DSMPC) for precise position control of piezoelectric micro/nanopositioning systems. Its implementation only needs input/output measurements, whereas the burdens on hysteresis modeling and state observer design are released. The robustness against piezoelectric nonlinearities and model disturbances is guaranteed by a devised digital sliding mode control (DSMC). As compared with DSMC, the DSMPC is capable of further attenuating the positioning error through an optimal control, which is provided by the predictive control strategy. Its stability is proved and ultimate tracking error bounds are evaluated analytically. The feasibility of the control scheme is validated by experimental investigations on a piezo-driven micropositioning device. Results exhibit that the DSMPC surpasses proportional-integral-derivative control and DSMC in terms of high-speed motion tracking accuracy, which is afforded by an increased bandwidth.
Identification in Parametric Models

A theory of identification is developed for a general stochastic model whose probability law is determined by a finite number of parameters. It is shown under weak regularity conditions that local identifiability of the unknown parameter vector is equivalent to nonsingularity of the information matrix. The use of "reduced-form" parameters to establish identifiability is also analyzed. The general results are applied to the familiar problem of determining whether the coefficients of a system of linear simultaneous equations are identifiable. THE IDENTIFICATION PROBLEM concerns the possibility of drawing inferences from observed samples to an underlying theoretical structure. An important part of econometric theory involves the derivation of conditions under which a given structure will be identifiable. The basic results for linear simultaneous equation systems under linear parameter constraints were given by Koopmans and Rubin [10] in 1950. Extensions to nonlinear systems and nonlinear constraints were made by Wald [15], Fisher [4, 5, 6], and others. A summary of these results can be found in Fisher's comprehensive study [7]. The identification problem has also been thoroughly analyzed in the context of the classical single-equation errors-in-variables model. The basic papers here are by Neyman [12] and Reiers0l [13]. Most of this previous work on the identification problem has emphasized the special features of the particular model being examined. This has tended to obscure the fact that the problem of structural identification is a very general one. It is not restricted to simultaneous-equation or errors-in-variables models. As Koopmans and Reiers0l [9] emphasize, the identification problem is "a general and fundamental problem arising, in many fields of inquiry, as a concomitant of the scientific procedure that postulates the existence of a structure. " In their important paper Koopmans and Reiers0l define the basic characteristics of the general identification problem. In the present paper we shall, in the case of a general parametric model, derive some identifiability criteria. These criteria include the standard rank conditions for linear models as special cases. Our approach is based in part on the information matrix of classical mathematical statistics. Since this matrix is a measure of the amount of information about the unknown parameters available in the sample, it is not surprising that it should be related to identification. For lack of identification is simply the lack of sufficient information to distinguish between alternative structures. The following results make this relationship more precise.2
Immediate impact of the FOLFIRINOX phase III data reported at the 2010 ASCO Annual Meeting on prescribing plans of American oncology physicians for patients with metastatic pancreas cancer (MPC).

286 Background: Since 2005 we at Xcenda, LLC have studied prescribing plans of American medical oncologists for first-line therapy in patients with MPC. In 2008 we reported the steady growth of prescribing plans for the gemcitabine-erlotinib (GE) combination from 23% in late 2005 to 46% in 2007. In 2007, gemcitabine (G) alone was the second most common regimen planned (27%) (Green MR. Proc GI ASCO 2008). No cytotoxic doublet consistently garnered >10% prescribing share in this clinical setting. At ASCO 2010 Conroy et al. (J Clin Oncol. 2010;28(15s): Abstract 4010) reported a survival advantage for the FOLFIRINOX regimen compared to package insert dose and schedule of G alone as first-line therapy in patients with MPC and excellent PS (0-1). METHODS Between 7/31 and 8/28/2010 we again used our extensively tested, live research vehicle, NMCR Challenging Cases, to assess current prescribing plans of over 370 American medical oncologists for first-line therapy in a patient with metastatic pancreas cancer and either PS 1 or PS 2. RESULTS The FOLFIRINOX data have produced an immediate change in the distribution of planned first-line prescribing with 18% share for the PS 1 scenario, largely substituted for previous use of GE for this setting (Table). In PS 2, plans for FOLFIRINOX are minimal with G alone followed by GE as the dominant selections. CONCLUSIONS The recently reported phase III FOLFIRINOX data are impacting first-line prescribing plans for patients with MPC. We will continue to quantitate physician-prescribing plans to more fully understand the additional impact the FOLFIRINOX data may have on overall chemotherapy management of these patients. [Table: see text] [Table: see text].
The Vulnerability of Values to Attack: Inoculation of Values and Value-Relevant Attitudes

Based on the values-as-truisms hypothesis and inoculation theory, two experiments tested whether providing cognitive defenses for the value of equality induces resistance against a message attacking this value. Experiment 1 found that participants who generated cognitive support in an active-supportive or an active-refutational defense were less persuaded by a subsequent message attacking equality than were participants who engaged in no prior defense. Experiment 2 examined the effects of an active-refutational defense and a passive-refutational defense, which simply asked participants to read reasons supporting or opposing equality. Results indicated additive effects of the active and passive defenses, such that participants were most resistant to the anti-equality message when they were given both defenses. Mediational analysis across both experiments revealed that the defenses increased counterargumentation of the anti-equality message, which led to increased post-attack importance of equality and predicted more favorable equality-relevant attitudes and values.
Whole body and tissue protein synthesis in cattle

The daily rates of synthesis of protein by the whole body and by the individual tissues were determined in two Hereford × Friesian heifers (236 kg and 263 kg live weight), and a dry Friesian cow (628 kg live weight). The rate of whole-body protein synthesis (g protein/d) was estimated from the total flux through the blood of [3H]leucine and [3H]tyrosine following infusion at a constant rate for 8 h. The fractional rates of protein synthesis (ks) in the tissues (g synthesized/d per g tissue protein) were obtained after slaughter of the animals at the end of the infusion period. The fractional rate of protein synthesis was calculated assuming that the specific radioactivity of free tyrosine in either the blood (to give ks, b) or the tissue homogenate (to give ks, h) defined closely the specific radioactivity of the amino acid precursor for protein synthesis. Total protein synthesis (As, b or As, h; g/d) in an individual tissue was calculated as the product of ks, b) (or ks, h) × protein content. Based on the total leucine flux, i.e. without correction for oxidation, 1.6 kg protein were synthesized daily in the heifers; for the cow this value was 2.0 kg/d. The sum of the daily total synthesis in the major tissues (muscle+bone+brain, gastrointestinal tract (GIT), liver, hide) gave values of 1.4–1.9 kg/d based on As, b, and 2.2–3.0 kg/d based on As, h. The percentage contributions of the individual tissues to the total protein synthesis were similar in all three animals, for example based on As, h muscle was 12–16; carcass (muscle+bone+brain) 32–33; GIT 38–46; liver 7–8; skin 14–21%. The contribution of muscle to total synthesis estimated from the leucine flux was 19–22%; this value is in agreement with those calculated on the same basis for other species. The energy cost of protein synthesis was estimated to account for a maximum of 30% of heat production.
Segmented-Memory Recurrent Neural Networks versus Hidden Markov Models in Emotion Recognition from Speech

Emotion recognition from speech means to determine the emotional state of a speaker from his or her voice. Today’s most used classifiers in this field are Hidden Markov Models (HMMs) and Support Vector Machines. Both architectures are not made to consider the full dynamic character of speech. However, HMMs are able to capture the temporal characteristics of speech on phoneme, word, or utterance level but fail to learn the dynamics of the input signal on short time scales (e.g., frame rate). The use of dynamical features (first and second derivatives of speech features) attenuates this problem. We propose the use of Segmented-Memory Recurrent Neural Networks to learn the full spectrum of speech dynamics. Therefore, the dynamical features can be removed form the input data. The resulting neural network classifier is compared to HMMs that use the reduced feature set as well as to HMMs that work with the full set of features. The networks perform comparable to HMMs while using significantly less features.
Gross cycling efficiency is not altered with and without toe-clips

Abstract The aim of this study was to examine the claim that reductions of 8 – 18% in submaximal oxygen consumption ([Vdot]O2) could be due to changing components on a Monark ergometer, from standard pedals without toe-clips or straps (flat pedals) to racing pedals of that era, which included toe-clips and straps (toe-clip pedals). This previously untested assertion was evaluated using 11 males (mean age 22.3 years, s = 1.2; height 1.82 m, s = 0.07; body mass 82.6 kg, s = 8.8) who completed four trials in a randomized, counterbalanced order at 60 rev · min−1 on a Monark cycle ergometer. Two trials were completed on flat pedals and two trials on toe-clip pedals. The Douglas bag method was used to assess [Vdot]O2 and gross efficiency during successive 5-min workloads of 60, 120, 180, and 240 W. The mean [Vdot]O2 was 2.1% higher for toe-clip pedals than flat pedals and there was a 99% probability that toe-clip pedals would not result in an 8% lower [Vdot]O2. These results indicate that toe-clip pedals do not reduce [Vdot]O2.
Ontologies for e-document management in public administration

Purpose – This research seeks to explore the potential of ontologies for reorganizing e‐document management in public administration with the aim of supporting administration in organizing cross‐organizational document and information management.Design/methodology/approach – Since ontologies are suitable for organizing metadata for annotation of informational resources, the research question is: How can public administrations make use of ontologies for organizing and improving their e‐document management? Findings, based on an action research project in the state administration of Schleswig‐Holstein (Germany). Findings – The research findings indicate that structuring documents and information through ontologies requires a socio‐technical infrastructure consisting of a number of regularities, services and support on the level of organization as well as information technology.Research limitations/implications – Since the case of Schleswig‐Holstein is typical for governments trying to enter the information a.
Reconstruction of genealogical relationships with applications to Phase III of HapMap

Motivation: Accurate inference of genealogical relationships between pairs of individuals is paramount in association studies, forensics and evolutionary analyses of wildlife populations. Current methods for relationship inference consider only a small set of close relationships and have limited to no power to distinguish between relationships with the same number of meioses separating the individuals under consideration (e.g. aunt–niece versus niece–aunt or first cousins versus great aunt–niece). Results: We present CARROT (ClAssification of Relationships with ROTations), a novel framework for relationship inference that leverages linkage information to differentiate between rotated relationships, that is, between relationships with the same number of common ancestors and the same number of meioses separating the individuals under consideration. We demonstrate that CARROT clearly outperforms existing methods on simulated data. We also applied CARROT on four populations from Phase III of the HapMap Project and detected previously unreported pairs of third- and fourth-degree relatives. Availability: Source code for CARROT is freely available at http://carrot.stanford.edu. Contact: sofiakp@stanford.edu
p120‐catenin regulates microtubule dynamics and cell migration in a cadherin‐independent manner

p120‐catenin (p120) has been shown to be essential for cadherin stability. Here, we show that p120 is capable of regulating microtubule (MT) dynamics in a cadherin‐independent manner. When p120 was depleted in cadherin‐deficient Neuro‐2a (N2a) cells, MT stability was reduced, as assessed by the nocodazole sensitivity of MTs. On the contrary, over‐expression of p120 caused MTs to become resistant to nocodazole. Time‐lapse recording of GFP‐tagged EB1, a protein which binds the growing plus‐ends of MTs, introduced into these cells demonstrated that the plus ends underwent more frequent catastrophe in p120‐depleted cells. In addition, p120 knockdown up‐regulated the motility of isolated cells, whereas it down‐regulated the directional migration of cells from wound edges; and these migratory behaviors of cells were mimicked by nocodazole‐induced MT depolymerization. These results suggest that p120 has the ability to regulate MT dynamics and that this activity, in turn, affects cell motility independently of the cadherin adhesion system.