Miracle-dz/UniFAR-FTUs huggingface dataset:
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

Purpose. To evaluate the phenotypic effects of two novel frameshift mutations in the RP1 gene in a Chinese pedigree of autosomal recessive retinitis pigmentosa (ARRP). Methods. Family members of a proband with ARRP were screened for RP1, RHO, NR2E3, and NRL mutations by direct sequencing. Detected RP1 mutations were genotyped in 225 control subjects. Since one family member with the RP1 deletion mutation in exon 2 was found to have age-related macular degeneration (AMD) but not RP, exons 2 and 3 of RP1 were screened in 120 patients with exudative AMD. Major AMD-associated SNPs in the HTRA1 and CFH genes were also investigated. Results. Two novel frameshift mutations in RP1, c. 5_6delGT and c. 4941_4942insT, were identified in the pedigree. They were absent in 225 control subjects. Family members who were compound heterozygous for the nonsense mutations had early-onset and severe RP, whereas those with only one mutation did not have RP. No mutations in RHO, NR2E3, and NRL were identified in the pedigree. Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292. No mutation in RP1 exons 2 and 3 was identified in 120 AMD patients. Conclusions. This report is the first to associate ARRP with compound heterozygous nonsense mutations in RP1. Identification of the nonsense-mediated mRNA decay (NMD)-sensitive mutation c. 5_6delGT provided further genetic evidence that haploinsufficiency of RP1 is not responsible for RP. The authors propose four classes of truncation mutations in the RP1 gene with different effects on the etiology of RP.
Poor Little Rich Kids? The Determinants of the Intergenerational Transmission of Wealth

Wealth is highly correlated between parents and their children; however, little is known about the extent to which these relationships are genetic or determined by environmental factors. We use administrative data on the net wealth of a large sample of Swedish adoptees merged with similar information for their biological and adoptive parents. Comparing the relationship between the wealth of adopted and biological parents and that of the adopted child, we find that, even prior to any inheritance, there is a substantial role for environment and a much smaller role for genetics. We also examine the role played by bequests and find that, when they are taken into account, the role of adoptive parental wealth becomes much stronger. Our findings suggest that wealth transmission is not primarily because children from wealthier families are inherently more talented or more able but that, even in relatively egalitarian Sweden, wealth begets wealth.
Microscale deformation of (001) and (100) rutile single crystals under spherical nanoindentation

Herein rutile (TiO_2) single-crystal surfaces, with (001) and (100) orientations, were indented with hemispherical indenters with radii of 13.5, 5, and 1.4 μm. By converting the load–displacement data to nanoindentation (NI) stress–strain curves, together with microscopic post-indentation observations, we conclude that in the (001) orientation, plastic deformation occurs by the activation of all four {101}<10 $$\bar 1$$ > slip systems. In the (100) orientation, only two of the four {101}<10 $$\bar 1$$ > slip systems, along with {100}<0 $$\bar 1$$ 0> slip, are activated. Because the four {101}<10 $$\bar 1$$ > slip systems in the (001) orientation intersect, the surface is harder and exhibits higher hardening rates after the nucleation of dislocations. The latter are manifested by pop-ins, some of which are large. The pop-in stresses are adequately described by Weibull statistics and were significantly higher for the (001) orientation. The elastic moduli, determined from spherical NI stiffness versus contact radii plots, were 349 ± 5 and 229 ± 4 GPa for (001) and (100) orientations, respectively. Fully spontaneous reversible, stress–strain hysteretic curves—only manifest in the (100) orientation—are attributed to the to-and-fro motion of dislocations comprising incipient kink bands in the {100}<0 $$\bar 1$$ 0> slip system.
A Comparison of Data-driven Techniques for Engine Bleed Valve Prognostics using Aircraft-derived Fault Messages

Prognostics plays an increasingly important role in preventive maintenance and aircraft safety. An approach that has recently become popular in this field is the data-driven technique. This approach consists in the use of past data and advanced statistics to derive estimates for the reliability of an equipment without relying on any physics or engineering principle. Data-driven models have been based on two types of historical data: past failure times and health monitoring data. A kind of health monitoring data rarely used in data-driven models are aircraft-derived maintenance messages. These data consist of fault messages derived from the aircraft onboard systems to notify any unexpected events or abnormal behavior as well as to send warning signals of equipment degradation. Fault messages have not received much attention in aircraft prognostics mostly due to its asynchronous and qualitative nature that often causes difficulties of interpretation. The main goal of this paper is to show that data-driven models based on fault messages can provide better prognostics than traditional prognostics based on past failure times. We illustrate this comparison in an industrial case study, involving a critical component of the engine bleed system. The novelty of our work is the combination of new predictors related to fault messages, and the comparison of datadriven methods such as neural networks and decision trees. Our experimental results show significant performance gain compared to the baseline approach.
The neutrophil elastase inhibitor, sivelestat, attenuates sepsis-related kidney injury in rats

Sepsis-induced acute kidney injury (AKI) represents a major cause of mortality in intensive care units. Sivelestat, a selective inhibitor of neutrophil elastase (NE), can attenuate sepsis-related acute lung injury. However, whether sivelestat can preserve kidney function during sepsis remains unclear. In this study, we thus examined the effects of sivelestat on sepsis-related AKI. Cecal ligation and puncture (CLP) was performed to induce multiple bacterial infection in male Sprague-Dawley rats, and subsequently, 50 or 100 mg/kg sivelestat were administered by intraperitoneal injection immediately after the surgical procedure. In the untreated rats with sepsis, the mean arterial pressure (MAP) and glomerular filtration rate (GFR) were decreased, whereas serum blood urea nitrogen (BUN) and neutrophil gelatinase-associated lipocalin (NGAL) levels were increased. We found that sivelestat promoted the survival of the rats with sepsis, restored the impairment of MAP and GFR, and inhibited the increased BUN and NGAL levels; specifically, the higher dose was more effective. In addition, sivelestat suppressed the CLP-induced macrophage infiltration, the overproduction of pro-inflammatory mediators (tumor necrosis factor-α, interleukin-1β, high-mobility group box 1 and inducible nitric oxide synthase) and serine/threonine kinase (Akt) pathway activation in the rats. Collectively, our data suggest that the inhibition of NE activity with the inhibitor, sivelestat, is beneficial in ameliorating sepsis-related kidney injury.
Effects of Gaseous Anesthetics Nitrous Oxide and Xenon on Ligand-gated Ion Channels: Comparison with Isoflurane and Ethanol

BackgroundLigand-gated ion channels are considered to be potential general anesthetic targets. Although most general anesthetics potentiate the function of &ggr;-aminobutyric acid receptor type A (GABAA), the gaseous anesthetics nitrous oxide and xenon are reported to have little effect on GABAA receptors but inhibit N-methyl-d-aspartate (NMDA) receptors. To define the spectrum of effects of nitrous oxide and xenon on receptors thought to be important in anesthesia, the authors tested these anesthetics on a variety of recombinant brain receptors. MethodsThe glycine, GABAA, GABA receptor type C (GABAC), NMDA, &agr;-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA), kainate, 5-hydroxytryptamine3 (5-HT3), and nicotinic acetylcholine (nACh) receptors were expressed in Xenopus oocytes and effects of nitrous oxide and xenon, and as equipotent concentrations of isoflurane and ethanol, were studied using the two-electrode voltage clamp. ResultsNitrous oxide (0.58 atmosphere [atm]) and xenon (0.46 atm) exhibited similar effects on various receptors. Glycine and GABAA receptors were potentiated by gaseous anesthetics much less than by isoflurane, whereas nitrous oxide inhibited GABAC receptors. Glutamate receptors were inhibited by gaseous anesthetics more markedly than by isoflurane, but less than by ethanol. NMDA receptors were the most sensitive among glutamate receptors and were inhibited by nitrous oxide by 31%. 5-HT3 receptors were slightly inhibited by nitrous oxide. The nACh receptors were inhibited by gaseous and volatile anesthetics, but ethanol potentiated them. The sensitivity was different between &agr;4&bgr;2 and &agr;4&bgr;4 nACh receptors; &agr;4&bgr;2 receptors were inhibited by nitrous oxide by 39%, whereas &agr;4&bgr;4 receptors were inhibited by 7%. The inhibition of NMDA and nACh receptors by nitrous oxide was noncompetitive and was slightly different depending on membrane potentials for NMDA receptors, but not for nACh receptors. ConclusionsNitrous oxide and xenon displayed a similar spectrum of receptor actions, but this spectrum is distinct from that of isoflurane or ethanol. These results suggest that NMDA receptors and nACh receptors composed of &bgr;2 subunits are likely targets for nitrous oxide and xenon.
Clinical Interventions in Aging Dovepress Effects of Momentum-based Dumbbell Training on Cognitive Function in Older Adults with Mild Cognitive Impairment: a Pilot Randomized Controlled Trial

hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms Purpose: The purpose of this study was to explore the effects of an innovative momentum-based dumbbell-training intervention on cognitive function in older adults with mild cognitive impairment (MCI). Subjects and methods: A total of 45 community-dwelling older adults with MCI were randomly assigned to either a dumbbell-training group (DTG; n=22) or a control group (CG; n=23). Participants in the DTG participated in exercise sessions three times weekly for 12 weeks. The primary outcome measures were cognitive function, including the Alzheimer's Disease Assessment Scale (ADAS) – Cognitive subscale, Trail Making Test part B, Digit Span Test (DST) – forward, and DST – backward, with secondary outcome measures being Timed Up and Go, functional reach, and the Activities-Specific Balance Confidence Scale. Results: In an intent-to-treat analysis, participants in the DTG had significantly improved ADAS – Cognitive subscale scores compared to those in the CG (5.02 points, P=0.012). There was a significant within-group change (improvement) in Trail Making Test part B (33.32 seconds, P,0.001) and DST – backward (0.41 points, P=0.025) scores. No change was observed for the DST – forward measure. Participants in the DTG also improved their functional mobility compared to those in the CG (Timed Up and Go, 0.81 seconds; P=0.043). Conclusion: There is preliminary evidence showing the potential benefit of momentum-based dumbbell training for improving cognitive function in older adults with MCI.
Numerical Analysis of an Airfoil Response to an Impinging Gust

AUTHOR: CLAIRE M. LESSIAU TITLE: NUMERICAL ANALYSIS OF AN AIRFOIL RESPONSE TO AN IMPINGING GUST INSTITUTION: EMBRY RIDDLE AERONAUTICAL UNIVERSITY DEGREE: MASTER OF SCIENCE IN AEROSPACE ENGINEERING YEAR: 2003 The BASS code, a nonlinear high-order prefactored compact code is validated on a benchmark problem. The nonlinear response of a loaded airfoil to an impinging vortical gust is investigated in the parametric space of gust intensity and frequency. Computational resources, involving a Linux cluster, were set up and maintained. The code was corrected and adapted to this particular problem. Results are compared with linear solution from the GUST3D solver.
MMD GAN: Towards Deeper Understanding of Moment Matching Network

Generative moment matching network (GMMN) is a deep generative model that differs from Generative Adversarial Network (GAN) by replacing the discriminator in GAN with a two-sample test based on kernel maximum mean discrepancy (MMD). Although some theoretical guarantees of MMD have been studied, the empirical performance of GMMN is still not as competitive as that of GAN on challenging and large benchmark datasets. The computational efficiency of GMMN is also less desirable in comparison with GAN, partially due to its requirement for a rather large batch size during the training. In this paper, we propose to improve both the model expressiveness of GMMN and its computational efficiency by introducing adversarial kernel learning techniques, as the replacement of a fixed Gaussian kernel in the original GMMN. The new approach combines the key ideas in both GMMN and GAN, hence we name it MMD GAN. The new distance measure in MMD GAN is a meaningful loss that enjoys the advantage of weak topology and can be optimized via gradient descent with relatively small batch sizes. In our evaluation on multiple benchmark datasets, including MNIST, CIFAR- 10, CelebA and LSUN, the performance of MMD-GAN significantly outperforms GMMN, and is competitive with other representative GAN works.
User preferences and usability of iVitality: optimizing an innovative online research platform for home-based health monitoring

Background The iVitality online research platform has been developed to gain insight into the relationship between early risk factors (ie, poorly controlled hypertension, physical or mental inactivity) and onset and possibly prevention of dementia. iVitality consists of a website, a smartphone application, and sensors that can monitor these indicators at home. Before iVitality can be implemented, it should fit the needs and preferences of users, ie, offspring of patients with dementia. This study aimed to explore users’ motivation to participate in home-based health monitoring research, to formulate requirements based on users’ preferences to optimize iVitality, and to test usability of the smartphone application of iVitality. Methods We recruited 13 participants (aged 42–64 years, 85% female), who were offspring of patients with dementia. A user-centered methodology consisting of four iterative phases was used. Three semistructured interviews provided insight into motivation and acceptance of using iVitality (phase 1). A focus group with six participants elaborated on expectations and preferences regarding iVitality (phase 2). Findings from phase 1 and 2 were triangulated by two semistructured interviews (phase 3). Four participants assessed the usability of the smartphone application (phase 4) using a think aloud procedure and a questionnaire measuring ease and efficiency of use (scale 1–7; higher scores indicated better usability). Results All participants were highly motivated to contribute to dementia research. However, the frequency of home-based health monitoring should not be too high. Participants preferred to receive feedback about their measurements and information regarding the relationship between these measurements and dementia. Despite minor technical errors, iVitality was considered easy and efficient to use (mean score 5.50, standard deviation 1.71). Conclusion Offspring of patients with dementia are motivated to contribute to home-based monitoring research by using iVitality and are able to use the smartphone application. The formulated requirements will be embedded to optimize iVitality.
Lycosidae : the grassland spiders

The hypothesis is formulated that the Lycosidae co-evolved with grassland and dispersed with the expansion of this type of habitat. Arguments that sustain this view are the abundance of Lycosidae in open habitats with low vegetation and their relative rareness in dense forest, the lack of typical hunter adaptations to achieve grip on smooth surfaces and the fact that the family is only known in the fossil record from the Miocene onwards, which is in synchronization with the spreading of grassland.
THE SCHOOL FOOD ENVIRONMENT AND ITS ASSOCIATION WITH DIETARY INTAKE AMONG RURAL ADOLESCENTS

OF THESIS THE SCHOOL FOOD ENVIRONMENT AND ITS ASSOCIATION WITH DIETARY INTAKE AMONG RURAL ADOLESCENTS The school food environment has the ability to increase the consumption of fruit and vegetables in rural adolescents. This study used a survey to allow adolescents in seven rural counties to self-report their fruit and vegetable intake as well as utilizing the USDA Mathematica tool and the School Nutrition and Meal Cost Study audits to evaluate what food and beverage products were actually available to adolescents. By using these two measures, associations between fruit and vegetable intake and availability of healthy and unhealthy foods were determined. The availability of healthy snacks and beverages was found to be associated with sugar-sweetened beverage intake in adolescents (p<0.001); the availability of unhealthy snacks and beverages was associated with fruit and vegetable intake in adolescents (p<0.001); the school marketing of water bottle stations and/or water dispenser availability was associated with sugarsweetened beverage intake in adolescents (p<0.001). Increasing the availability and school marketing of healthy foods and beverages in rural schools may be an effective way to improve fruit and vegetable consumption in adolescents.
SOME IDENTITIES FOR BERNOULLI NUMBERS OF THE SECOND KIND ARISING FROM A NON-LINEAR DIFFERENTIAL EQUATION

Abstract. In this paper, we give explicit and new identities for theBernoulli numbers of the second kind which are derived from a non-lineardiﬀerential equation. 1. IntroductionFor r ∈ N, the Bernoulli polynomials of order r are deﬁned by the generatingfunction to bete t −1 r e xt =te t −1×···×te t −1| {z } r-times (1) e xt= X ∞n=0 B (r)n (x)t n n! , (see [1]-[16]). When x = 0, B (r)n = B (r)n (0) are called the Bernoulli numbers of order r.As is well known, the Bernoulli polynomials of the second kind are given bythe generating function to be(2)tlog(1+t)(1+t) x =X ∞n=0 b n (x)t n n! , (see [3, 5, 7, 14]). Indeed, b n (x) = B (n)n (x +1). When x = 0, b n = b n (0) are called the Bernoulli numbers of the secondkind.The ﬁrst few Bernoulli numbers of the second kind are b 0 = 1, b 1 = 12 ,b 2 = − 16 , b 3 = 14 , b 4 = − 1930 , b 5 = 94 , . Received October 8, 2014; Revised May 12, 2015.2010 Mathematics Subject Classiﬁcation. 05A19,11B68,34A34.Key words and phrases. Bernoulli numbers of second kind, non-linear diﬀerentialequation.
TRANSFORMATIONS, BIOAVAILABILITY AND TOXICITY OF MANUFACTURED ZnO NANOMATERIALS IN WASTEWTER

OF THESIS TRANSFORMATIONS, BIOAVAILABILITY AND TOXICITY OF MANUFACTURED ZnO NANOMATERIALS IN WASTEWTER In order to properly evaluate the ecological and human health risks of ZnO Manufactured nanomaterials (MNMs) released to the environment, it is critical to understand the likely transformation products in the wastewater treatment process and in soils receiving biosolids. To address this critical knowledge gap, we examined the transformation reactions of 30 nm ZnO MNMs in single component and multicomponent systems, with phosphate and natural organic matter (NOM). We also assessed the influence of nano ZnO transformation on the bioavailability and toxicity of ZnO transformation products to Triticum aestivum. The data revealed that ZnO MNMs react with phosphate at concentrations expected in wastewater and transform into two distinct morphological/structural phases. A micron scale crystalline zinc phosphate phase (hopeite), and a nano-sized phase that likely consists of a ZnO core with a Zn3(PO4)2 rich shell. Presence of NOM reduces particle aggregation and enhances stability, regardless of the sequence of ligands addition in the aging scenarios. The presence of phosphate and NOM also altered the bioavailability and reduced the toxicity of the ZnO MNMs to Triticum aestivum.
Major factors influencing antioxidant contents and antioxidant activity in grapes and wines

Phenolic compounds in wines, especially in red wines, possess strong antioxidant activity, have the largest effect in decreasing atherosclerosis by both hypolipemic and antioxidant mechanisms. The long-term uptake of red wine has a positive impact on antioxidant activity (AA) of blood plasma in rats in vivo and increases AA by 15%–20% compared to a control group. In the article the effect of total phenolics (TP), total anthocyanins (TA), individual anthocyanins, procyanidins and phenolics contained in red grapes, musts, grape seeds and skins and wines on the AA is discussed. Significant impact of varieties, viticultural regions and locations, climate conditions and vintage has been shown. Likewise, the ways and individual stages of the vinification technology process, and storage conditions affect color, TP, TA, and AA and health aspects of produced wines. Resveratrol, another free radical scavenger mainly contained in the skins of grapes, inhibits the risk of cardiovascular diseases. Higher amounts of trans-resveratrol (RES) have been found in wines from cool and wet climate regions and lesser amounts are typical for warm and dry regions. Changes in the TP content and AA affected by grape variety, vineyard location and winemaking process in white and blue varieties from different vineyards of the Czech Republic were studied. Significant differences in TP among varieties were found. Analysis of variance showed statistically high differences among red and white wines and growing locations. Wines differed significantly in TP content and AA increased significantly during the winemaking process. Statistically significant differences in AA values were found among growing areas, wines and varieties. Significant positive correlations between TP and AA were determined. Total antioxidant status (TAS) of white and red wines (white and blue vine varieties) determined by DPPH and ABTS assays revealed significant differences in AA between white and red wines. Moreover, differences were ascertained between individual varieties of red wine. The results obtained supported the assumption that variety plays a considerable role in TAS; the blue vine varieties showed a much higher TAS. Analysis of variance in AA showed statistically high significance between red and white wines. AA increased during the winemaking process, the highest increase was determined during fermentation and maturation stages of red wine.
Integrated Analysis of the Current Situation of Construction Industry in Chinese Eight Major Provinces and Cities

On the basis of the statistical data from 2000 to 2004, this paper analyzes the current situation of construction industry of eight major provinces and cities--Beijing, Shanghai, Tianjin, Chongqing, Jiangsu, Zhejiang, Shandong and Guangdong from the aspects such as the construction industry's contribution to region economic growth, its ownership feature, labor productivity, profit level and technical arrangement level. The study shows us advantages as well as the disparities of the construction industry of these areas, which can be a reference for their further development.