Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel nonsense mutation of the BMPR‐II gene in a Japanese patient with familial primary pulmonary hypertension

Familial PPH locus ( PPH1 ) was mapped on chromosome 2q33. 2,3 It has been assumed that familial PPH is transmitted as an autosomal dominant trait. Several mutations were found for both familial PPH 4–6 and sporadic PPH 7 in one of the components of the transforming growth factor beta (TGFβ ) family, namely the bone morphogenetic protein receptor type II (BMPR-II). Bone morphogenetic proteins (BMP) signal through BMPR-II. Certain BMP have been shown to inhibit vascular smooth-muscle cell proliferation and to induce apoptosis in some cell types in culture. 8
Heme oxygenase 1 mediates an adaptive response to oxidative stress in human skin fibroblasts.

Oxidative stress of human skin fibroblasts by treatment with ultraviolet A (UVA) radiation has been shown to lead to an increase in levels of the heme catabolizing enzyme heme oxygenase 1 [heme, hydrogen-donor:oxygen oxidoreductase (alpha-methene-oxidizing, hydroxylating), EC 1.14. 99.3] and the iron storage protein ferritin. Here we show that human skin fibroblasts, preirradiated with UVA, sustain less membrane damage during a subsequent exposure to UVA radiation than cells that had not been preirradiated. Pretreating cells with heme oxygenase 1 antisense oligonucleotide inhibited the irradiation-dependent induction of both the heme oxygenase I enzyme and ferritin and abolished the protective effect of preirradiation. Inhibition of the UVA preirradiation-dependent increase in ferritin, but not heme oxygenase, with desferrioxamine also abolished the protection. This identifies heme oxygenase 1 as a crucial enzymatic intermediate in an oxidant stress-inducible antioxidant defense mechanism, involving ferritin, in human skin fibroblasts.
Dynamic behavior of geometrically complex hybrid composite samples in a Split-Hopkinson Pressure Bar system

The interfaces between layered materials play an important role for the overall mechanical behavior of hybrid composites, particularly during dynamic loading. Moreover, in complex-shaped composites, interfacial failure is strongly affected by the geometry and size of these contact interfaces. As preliminary work for the design of a novel sample geometry that allows to analyze wave reflection phenomena at the interfaces of such materials, a series of experiments using a Split-Hopkinson Pressure Bar technique was performed on five different sample geometries made of a monomaterial steel. A complementary explicit finite element model of the Split-Hopkinson Pressure Bar system was developed and the same sample geometries were studied numerically. The simulated input, reflected and transmitted elastic wave pulses were analyzed for the different sample geometries and were found to agree well with the experimental results. Additional simulations using different composite layers of steel and aluminum (with the same sample geometries) were performed to investigate the effect of material variation on the propagated wave pulses. The numerical results show that the reflected and transmitted wave pulses systematically depend on the sample geometry, and that elastic wave pulse propagation is affected by the properties of individual material layers.
Differences in Renal Tubule Primary Cilia Length in a Mouse Model of Bardet-Biedl Syndrome

Background: Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder that comprises numerous features, including renal cystic disease. Twelve BBS genes have been identified (BBS1–12). Although the exact functions of the BBS proteins are unknown, evidence suggests that they are involved in cilia assembly, maintenance and/or function. Renal primary cilia dysfunction can lead to cystic kidney disease. To test whether lacking Bbs4 affects cilia assembly and structure, we analyzed primary cilia in Bbs4-null (Bbs4–/–) mice. Methods: Renal tubule cultures from wild-type (Bbs4+/+) and Bbs4–/– mice were examined by immunocytochemistry and scanning and transmission electron microscopy. Results: Our culture conditions generated ciliated epithelial cells that were mostly of collecting duct origin. The microtubule ultrastructure of cilia and basal bodies did not appear disrupted in Bbs4–/– cells. In control cells, cilia length was maximal at 7 days in culture. In cells cultured from Bbs4–/– mice, cilia were shorter initially, but surpassed the length of control cilia by 10 days. Renal primary cilia were also longer in Bbs4–/– kidneys. Conclusions: Lacking Bbs4 does not lead to aberrant cilia or basal body structure. However, the dynamics of cilia assembly is altered in Bbs4–/– cells, suggesting a role for Bbs4 in the regulation of ciliary assembly.
Extensions for Internet QoS paradigms to mobile IP: a survey

Mobile IP has been chosen as the core mobility management mechanism for wireless LANs, 3G cellular networks, and, most recently, aeronautical networks. It is viewed as a key element in providing a universal roaming solution across different wireless access technologies. However, mobile IP in its basic form inherits the IP incapability to provide QoS guarantees. This results in mobile IP's lack of support for seamless intradomain mobility. This article surveys extensions that have been proposed to enhance the QoS functionality of mobile IP. It gives a brief overview of mobile IP and Internet QoS paradigms, and describes their general shortcomings with regard to QoS and mobility, respectively. It then discusses the extensions that have been proposed in the literature and provides a qualitative comparison.
Brain Connectivity Plasticity in the Motor Network after Ischemic Stroke

The motor function is controlled by the motor system that comprises a series of cortical and subcortical areas interacting via anatomical connections. The motor function will be disturbed when the stroke lesion impairs either any of these areas or their connections. More and more evidence indicates that the reorganization of the motor network including both areas and their anatomical and functional connectivity might contribute to the motor recovery after stroke. Here, we review recent studies employing models of anatomical, functional, and effective connectivity on neuroimaging data to investigate how ischemic stroke influences the connectivity of motor areas and how changes in connectivity relate to impaired function and functional recovery. We suggest that connectivity changes constitute an important pathophysiological aspect of motor impairment after stroke and important mechanisms of motor recovery. We also demonstrate that therapeutic interventions may facilitate motor recovery after stroke by modulating the connectivity among the motor areas. In conclusion, connectivity analyses improved our understanding of the mechanisms of motor recovery after stroke and may help to design hypothesis-driven treatment strategies and sensitive measures for outcome prediction in stroke patients.
Restless Legs Syndrome in Patients on Hemodialysis: Symptom Severity and Risk Factors

Background and Purpose Restless legs syndrome (RLS) is a sleep disorder that frequently occurs in dialysis patients, which disturbs the sleep and reduces the quality of life. The aim of this study was to determine the risk factors for RLS in dialysis patients. Methods Patients who visited any of four outpatient dialysis clinics between September 2005 and May 2006 were included in this study. The diagnosis of RLS and the severity assessment were made using the criteria described by the International Restless Legs Syndrome Study Group. We collected basic demographic data, clinical information, and laboratory findings, and then analyzed their association with various aspects of RLS using univariate and multivariate analyses. Results RLS was present in 46 (28.0%) of 164 dialysis patients. We found no significant risk factor for inducing RLS. The predialysis serum blood urea nitrogen (BUN) level in the dialysis patients with RLS was significantly correlated with RLS symptom severity. Conclusions Predialysis BUN is related to RLS symptom severity. Further studies on the underlying mechanism are needed.
Multivariate analysis of hearing outcomes in patients with idiopathic sudden sensorineural hearing loss

Abstract Conclusions: Contralateral hearing loss is significantly correlated with poor hearing outcomes in patients with idiopathic sudden sensorineural hearing loss (ISSNHL). Background: The hearing outcome in patients with ISSNHL was analyzed using multiple variables. Methods: A retrospective chart review was conducted using 89 patients with ISSNHL. Patients within 40 dB HL of average hearing levels and/or patients whose hearing loss was restricted to low frequencies were excluded. The influence of pre-existing conditions on hearing outcome was analyzed using a polytomous universal model. Pre-existing conditions analyzed included hyperglycemia, hypercholesterolemia, hypertension, and contralateral hearing loss. In addition, the severity of hearing loss, age group, and the existence of vertigo were analyzed concomitantly. Results: Hearing recovery was significantly reduced in patients with a past history of contralateral hearing loss.
SOLAR CORONAL AND PHOTOSPHERIC ABUNDANCES FROM SOLAR ENERGETIC PARTICLE MEASUREMENTS

Solar energetic particle (SEP) elemental abundance data from the Cosmic Ray Subsystem (CRS) aboard the Voyager 1 and 2 spacecraft (Breneman and Stone 1985} are used to derive unfractionated coronal and photospheric abundances for elements with 3 < Z < 30. We find that the ionic charge-to-mass ratio (Q/M) is the principal organizing parameter tor the fractionation of SEPs by acceleration and propagation processes and for fl.are-to-fl.are variability, making possible a single parameter Q/M-dependent correction to the average SEP abundances to obtain unfractionated coronal abundances. A further correction based on first ionization potential allows the determination of unfractionated photospheric abundances.
Is the presumptive notochord responsible for somite genesis in the chick?

Fragments of Hensen's node or head process were implanted into the primitive streak 0·8 mm behind the node. The posterior region was isolated from all influences emanating from the anterior part of the blastoderm, either by cutting off a large rectangular piece just in front of the implant or by explanting the region combined with the notochord implant into the area opaca. As controls, corresponding regions of the primitive streak were isolated or explanted. In controls, somite formation never took place, while the implantation of presumptive notochord into this posterior region was followed by the formation of somites in most cases. In these experiments, the action of the presumptive notochord in its new situation was similar to that of the chorda-factor in amphibians.
A space-time channel simulator for MIMO channels based on the geometrical one-ring scattering model

This paper introduces a general concept for the design of efficient multi-input multi-output (MIMO) narrowband fading channel simulators. The proposed procedure is applied on a reference model for the geometrical one-ring scattering model consisting of an infinite number of local scatterers lying on a ring around the mobile station (MS). The statistical properties of both the reference model and the simulation model are studied. Closed-form solutions are presented, e.g., for the space-time cross-correlation function (CCF), the time autocorrelation function (ACF), and the two-dimensional (2D) space CCF. It is shown how the parameters of the MIMO channel simulator can be determined for any given space-time CCF describing the reference model. The excellent performance of the proposed space-time channel simulator is demonstrated by comparing its temporal and spatial correlation properties with those of the reference model. Moreover, it is demonstrated how the channel simulator can be used to analyse the capacity of MIMO channels from time-domain simulations.
A unified approach for mining outliers

This paper deals with finding outliers (exceptions) in large datasets. The identification of outliers can often lead to the discovery of truly unexpected knowledge in areas such as electronic commerce, credit card fraud, and even the analysis of performance statistics of professional athletes. One contribution of this paper is to show how our proposed, intuitive notion of outliers can unify or generalize many of the existing notions of outliers provided by discordancy tests for standard statistical distributions. Thus, when mining large datasets containing many attributes, a unified approach can replace many statistical discordancy tests, regardless of any knowledge about the underlying distribution of the attributes. A second contribution of this paper is the development of an algorithm to find all outliers in a dataset. An important advantage of this algorithm is that its time complexity is linear with respect to the number of objects in the dataset. We include preliminary performance results.
Timing of Atmospheric CO2 and Antarctic Temperature Changes Across Termination III

The analysis of air bubbles from ice cores has yielded a precise record of atmospheric greenhouse gas concentrations, but the timing of changes in these gases with respect to temperature is not accurately known because of uncertainty in the gas age–ice age difference. We have measured the isotopic composition of argon in air bubbles in the Vostok core during Termination III (∼240,000 years before the present). This record most likely reflects the temperature and accumulation change, although the mechanism remains unclear. The sequence of events during Termination III suggests that the CO2 increase lagged Antarctic deglacial warming by 800 ± 200 years and preceded the Northern Hemisphere deglaciation.
The PRO-ACT database

Objective: To pool data from completed amyotrophic lateral sclerosis (ALS) clinical trials and create an open-access resource that enables greater understanding of the phenotype and biology of ALS. Methods: Clinical trials data were pooled from 16 completed phase II/III ALS clinical trials and one observational study. Over 8 million de-identified longitudinally collected data points from over 8,600 individuals with ALS were standardized across trials and merged to create the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) database. This database includes demographics, family histories, and longitudinal clinical and laboratory data. Mixed effects models were used to describe the rate of disease progression measured by the Revised ALS Functional Rating Scale (ALSFRS-R) and vital capacity (VC). Cox regression models were used to describe survival data. Implementing Bonferroni correction, the critical p value for 15 different tests was p = 0.003. Results: The ALSFRS-R rate of decline was 1.02 (±2.3) points per month and the VC rate of decline was 2.24% of predicted (±6.9) per month. Higher levels of uric acid at trial entry were predictive of a slower drop in ALSFRS-R (p = 0.01) and VC (p < 0.0001), and longer survival (p = 0.02). Higher levels of creatinine at baseline were predictive of a slower drop in ALSFRS-R (p = 0.01) and VC (p < 0.0001), and longer survival (p = 0.01). Finally, higher body mass index (BMI) at baseline was associated with longer survival (p < 0.0001). Conclusion: The PRO-ACT database is the largest publicly available repository of merged ALS clinical trials data. We report that baseline levels of creatinine and uric acid, as well as baseline BMI, are strong predictors of disease progression and survival.
Empirical testing of hypotheses about the evolution of genomic imprinting in mammals

The close interaction between mother and offspring in mammals is thought to contribute to the evolution of genomic imprinting or parent-of-origin dependent gene expression. Empirical tests of theories about the evolution of imprinting have been scant for several reasons. Models make different assumptions about the traits affected by imprinted genes and the scenarios in which imprinting is predicted to have been selected for. Thus, competing hypotheses cannot readily be tested against each other. Further, it is far from clear how predictions about expression patterns of genes with specific phenotypic effects can be tested given current methodology of assaying gene expression levels, be it in the brain or in other tissues. We first set out a scenario for testing competing hypotheses and delineate the different assumptions and predictions of models. We then outline how predictions may be tested using mouse models such as intercrosses or recombinant inbred (RI) systems that can be phenotyped for traits relevant to imprinting theories. Further, we briefly discuss different molecular approaches that may be used in conjunction with experiments to ascertain expression patterns of imprinted genes and thus the testing of predictions.
Evaluating Informal-Domain Word Representations With UrbanDictionary

Existing corpora for intrinsic evaluation are not targeted towards tasks in informal domains such as Twitter or news comment forums. We want to test whether a representation of informal words fulfills the promise of eliding explicit text normalization as a preprocessing step. One possible evaluation metric for such domains is the proximity of spelling variants. We propose how such a metric might be computed and how a spelling variant dataset can be collected using UrbanDictionary.
A Novel Technique for Sub-pixel Image Classification Based on Support Vector Machine

This paper presents a novel support vector machine classifier designed for sub-pixel image classification (pixel/spectral unmixing). The proposed classifier generalizes the properties of SVMs to the identification and modeling of the abundances of classes in mixed pixels by using fuzzy logic. This results in the definition of a fuzzy-input fuzzy-output support vector machine (FSVM) classifier that can: i) process fuzzy information given as input to the classification algorithm for modeling the sub-pixel information in the learning phase of the classifier, and ii) provide a fuzzy modeling of the classification results, allowing a relation many-to-one between classes and pixels. The presented binary FSVM can address multicategory problems according to two strategies: the fuzzy one-against-all (FOAA) and the fuzzy one-against-one strategies (FOAO). These strategies generalize to the fuzzy case techniques based on ensembles of binary classifiers used for addressing multicategory problems in crisp classification problems. The effectiveness of the proposed FSVM classifier is tested on three problems related to image classification in presence of mixed pixels having different characteristics. Experimental results confirm the validity of the proposed sub-pixel classification method.
Enhancing negative thermal quenching effect via low-valence doping in two-dimensional confined core–shell upconversion nanocrystals

Luminescent materials with negative thermal quenching effects show superior potentials in temperature sensing and anti-counterfeiting fields. Normally, smaller nanocrystals (NCs) with higher surface-to-volume ratios are used to achieve larger thermal-induced intensification of upconversion (UC) emission intensity. Herein, confining sensitizers and activators to the shell layer with two-dimensional space and introducing defect energy levels via doping low-valence ions are simultaneously applied to enhance the negative thermal quenching effect. By increasing the temperature from 293 K to 413 K, the integral UC emission intensity of 20Yb/2Er:NaGdF4 increases only by ∼2.2 times, whereas that of NaGdF4@20Ca/20Yb/2Er:NaGdF4 core–shell NCs with a similar particle size increases by ∼10.9 times.
Effect of Tetracycline Hydrochloride and Spiramycin Sub Gingival Irrigation with Pulsated Jet Irrigator in Chronic Periodontitis Patients: A Clinical Study

Background: The present study is designed to evaluate the clinical effects of pulsated subgingival irrigation with tetracycline and spiramycin. Materials and Methods: Ten patient diagnosed chronic periodontitis were included in the present study. Each patient is assigned to be irrigated with saline (placebo) (Group A), tetracycline HCl at 0.5% concentration (Group B), and 0.5% spiramycin (Group C). Scaling and root planing (SC/RP) was recorded as Group D. Plaque index, gingival index, gingival bleeding index, probing pocket depth were assessed on pre-irrigation (day 0), and at days 7, 14, 21, 28, and 35 day. Results: The results showed that subgingival irrigation with 0.5% tetracycline and spiramycin produced a significant reduction in clinical parameters compared to the control, while SC/RP was showed better improvement. Conclusion: The result of this study suggested that subgingival irrigation of tetracycline and spiramycin play a beneficial role in the management of chronic periodontitis patients.
Evaluation of HLA‐Haplotype Disparate Parental Marrow Grafts Depleted of T Lymphocytes by Differential Agglutination with a Soybean Lectin and E‐Rosette Depletion for the Treatment of Severe Combined Immunodeficiency 1

Abstract. The factors that impact upon successful bone marrow transplantation leading to immunologic reconstitution in severe combined immune deficiency (SCID), Wiskott‐Aldrich syndrome, and in other lethal congenital immunodeficiencies are reviewed. Evidence is presented that graft‐versus‐host disease (GVHD) can be abrogated by the depletion of T cells, even from histoincompatible marrow grafts. However, graft resistance or restricted immune reconstitution has been observed with significant frequency. The bases for T cell reconstitution and limitations in B cell humoral immune recovery in the postgrafting period are reviewed, together with emerging evidence that pretransplant cytoreduction might obviate some of these problems.
Organizational factors related to the adoption of information and communication technologies in Rosario and surrounding enterprises

The present work aims to be a contribution to the research methodology for adoption of information and communication technologies (ICT) in enterprises. It is intended to explain the levels of maturity achieved in the implementation of ICT in companies under study. Specifically, it explores to what extent factors such as industry, organizational size, training of human resources, availability of technology and technological awareness, affect the level of technological appropriation. The study was based on a survey implemented in 2011 to 46 companies and service trade Rosario and surrounding areas. They keep the 3 maturity levels (basic, intermediate and advanced) defined in previous work, incorporating each new variables related to training IT human resources and technological level of consciousness, in order to deepen about causalities in the levels of maturation detected. The main findings reveal the impact of computer training and technological awareness in the learning process to more mature stages.