nils-herrmann/clean_scirepeval huggingface dataset:
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited neurodegenerative disorders mainly affecting children, and at least 13 causative genes (CLN1 to CLN8 and CLN10 to CLN14) have been identified. Here, we reported a novel homozygous missense mutation (c.434G > C, p.Arg145Pro) identified in CLN5 gene via whole exome sequencing in a 5-year-old girl. The patient first presented paroxysmal epilepsy associated with vomiting, followed by progressive regression in walking, vision, intelligence and speaking. Combining the molecular and clinical analysis, the diagnosis of NCL could be made, although the missense mutation (c.434G > C, p.Arg145Pro) in CLN5 was evaluated to be a variant of uncertain significance according to American College of Medical Genetics and Genomics (ACMG) standard. We further performed expression and localization studies and our results provide evidence of impaired cellular trafficking of CLN5 to lysosome, indicating that this mutation might be deleterious to the function of CLN5 for its mislocalization. Our study demonstrated the efficacy of next generation sequencing in molecular diagnosis, and a deleterious effect of the variant discovered in our patient on CLN5, triggering the NCL disease.

Field of study: Biology
Mechanical, thermal and ablative behavior of organo nanoclay added carbon fiber/cyanate ester resin composites and effect of heat flux on its ablative performance

Nanoclay added cyanate ester resin (Type I) composites were fabricated by adding different weight percentages (0,1,2,4 & 6 wt%) of organo-modified Montmorillonite (o-MMT) and tested for dispersion ...

Field of study: Materials science
Simplified Birthday Statistics and Hamming EDAC

Space systems use error detection and correction (EDAC) schemes to protect memory contents from single event upsets (SEUs). Hamming EDAC is the preferred scheme for fast, random access memories. It allows for the correction of a single bit error within a word and the detection of a double bit error. The common assumption is that the likelihood of an uncorrectable double bit error is very small. This paper develops a simple equation that predicts the cumulative probability of a double bit error occurring within some word of Hamming protected memory as the number of random upsets increase and shows how it can be used to better understand the protection provided by EDAC.

Field of study: Physics
Extent of sustainability disclosure by Australian public universities: Inclusive analysis of key reporting media

This paper measures and inclusively analyses the extent of Australian public universities’ sustainability disclosures on three key reporting media, that is annual reports, stand‐alone sustainability reports, and websites. The study also compares the extent of the disclosures across university groupings. Content analysis was used to analyse the data by utilising the updated Graphical Assessment of Sustainability in Universities (GASU) indicators together with a weighted scoring scheme. Mann–Whitney and Kruskal–Wallis tests were applied in the comparison tests. The results of this study indicate that the extent of sustainability disclosures made by Australian public universities is overall fairly low, and the evaluation and comparison of the extent of sustainability disclosures among different university groupings overall show no significant difference. Overall, the findings suggest that there is a need to increase both the level of awareness and recognition of benefits resulted from performing sustainable development activities and the way these performances are better communicated to stakeholders.

Field of study: Political science
Poster - Thur Eve - 75: Towards MR only simulation: MR based digitally reconstructed radiograph of head and neck.

To develop a practical method to obtain bony structures from Magnetic Resonance (MR) images and to create MR- based digitally reconstructed radiographs (DRR) for MR only simulation.



Using T1-weighted MR images, air regions including the sinuses and the airway in the head and neck were manually contoured. The bone and soft tissue masks were automatically generated based on the statistical data calculated from the air contour and MR intensities. "CT like" MR images were generated by mapping the MR intensities of the voxels within these masks into the CT number ranges of these tissues. The MR-based DRRs created from "CT like" MR images were quantitatively evaluated using the co-registered MR and CT images of 10 stereotactic radiosurgery CNS patients. Ten anatomical control points, set on the contours of the skull segmented using a threshold of 300 HU were used to determine the differences in distance between MR-based DRRs and CT-based DRRs, and to evaluate the geometrical accuracy of MR-based DRRs.



The bony structures were visible in the MR-based DRRs. The mean geometric difference and standard deviation between the ten anatomical control points on MR- based and CT-based DRRs were -0.03±1.11 mm (including uncertainty of image fusion). The maximum distance difference was 1.67mm.



The study provides a practical method to generate MR- based DRRs from MR-only simulations of the head and neck regions. The image quality and anatomical accuracy of MR-based DRRs is comparable to that of CT-based DRRs.

Field of study: Medicine, Physics
Dynamic characteristics of sulfur, iron and phosphorus in coastal polluted sediments, north China.

The cycling of sulfur (S), iron (Fe) and phosphorus (P) in sediments and pore water can impact the water quality of overlying water. In a heavily polluted river estuary (Yantai, China), vertical profiles of fluxes of dissolved sulfide, Fe2+ and dissolved reactive phosphorus (DRP) in sediment pore water were investigated by the Diffusive Gradients in Thin films technique (DGT). Vertical fluxes of S, Fe, P in intertidal sediment showed the availability of DRP increased while the sulfide decreased with depth in surface sediment, indicating that sulfide accumulation could enhance P release in anoxic sediment. In sites with contrasting salinity, the relative dominance of iron and sulfate reduction was different, with iron reduction dominant over sulfate reduction in the upper sediment at an intertidal site but the reverse true in a freshwater site, with the other process dominating at depth in each case. Phosphate release was largely controlled by iron reduction.

Field of study: Environmental science
Reducer driven baric denaturation and oligomerisation of whey proteins.

The influence of high pressure on alpha-lactalbumin (ALA)/beta-lactoglobulin (BLG) mixtures of various compositions was studied at pH 8.5 by gel-permeation chromatography and sodium dodecyl sulphate (SDS) gel electrophoresis without 2-mercaptoethanol. High-molecular protein disulfide oligomers formed after denaturation by the pressure of 10 kbar (1000 MPa) if the weight fraction of BLG (W(BLG)(0)) in the protein mixture exceeded 0.2. The maximum yield of these oligomers of order 80-85% is observed at W(BLG)(0)>/=0.4. Conversions of both proteins in the oligomers are roughly the same. The estimates of the oligomerisation yield obtained by the gel-permeation chromatography and SDS gel electrophoresis agree well. This indicates that the formation of intermolecular disulfide bonds is necessary for the oligomerisation. Thus, the oligomerisation of pressure denatured ALA and BLG is driven by the thiol<-->disulfide exchange rendered possible by the vigorous baric denaturation and the exposure of the free thiol group of BLG, which acts as an initiator of disulfide bridges scrambling.

Field of study: Biology, Engineering
The Ethics of Human Embryo Experimentation

In October of last year, the Australian Senate Select Committee on Human Embryo Experimentation tabled its report. The principal finding was that "the embryo may be properly described as genetically new human life organized as a distinct entity oriented toward further development," so that "the respect due to the embryo from the process of fertilization onwards requires its protection from destructive non-therapeutic experimentation . . . " (Senate Select Committee 1985, xiv).

Field of study: Medicine, Philosophy
Generation of optical Y-junction Bessel beams.

A method is proposed to split the central spot of zero-order Bessel beams into two parallel spots along the propagation axis of the beam. A magnetic-liquid deformable mirror is used to provide the required phase profile combining an axicon and a phase step. The obtained Y-junction Bessel beam has been characterized; the 80 µm central spot of the Bessel beam is split into two spots of the same size that have been propagated over a length exceeding 15 cm. The observations are consistent with the predictions of a numerical model. Potential applications of Y-junction Bessel beams are discussed.

Field of study: Physics
Electrical stressing effects in solid-phase crystallized polysilicon thin film transistors

The evolution of the electrical parameters of solid-phase crystallized polysilicon thin film transistors under various stressing-gate and drain-bias values was studied. Under VGS stressing, the threshold voltage Vth exhibits an initial negative shift attributed to hole trapping and a subsequent turnaround, occurring sooner for larger stressing VGS, towards positive shifts with a logarithmic time dependence, indicating an electron trapping process occurring in the oxide and at the polysilicon/SiO2 interface. The subthreshold swing, the midgap trap state density and the transconductance exhibit a concomitant logarithmic degradation, attributed to a stress-induced acceptor trap creation at the interface and in the polysilicon active layer, corroborating the electron trapping process inferred from the Vth data. The simultaneous application of a small VDS stressing in combination with the VGS stressing suppresses this Vth turnaround effect and enhances the degradation of all parameters. The reduction of the turnaround stressing time as well as the increase in the subthreshold swing and the midgap trap state density correlated with the increase of the stressing current IDS, indicating a concomitant increase of the stress-induced trap creation and the electron trapping.

Field of study: Materials science
Justifying Information-Geometric Causal Inference

Information-Geometric Causal Inference (IGCI) is a new approach to distinguish between cause and effect for two variables. It is based on an independence assumption between input distribution and causal mechanism that can be phrased in terms of orthogonality in information space. We describe two intuitive reinterpretations of this approach that make IGCI more accessible to a broader audience. Moreover, we show that the described independence is related to the hypothesis that unsupervised learning and semi-supervised learning only work for predicting the cause from the effect and not vice versa.

Field of study: Computer science
The Historiography of the Spanish American Revolutions

T HE LITERATURE relating to the fall of the Spanish American empire and to the establishment, in the first quarter of the nineteenth century, of the independent states of Spanish America is already vast and is rapidly increasing. No other period, with the possible exception of that of the conquest, has so closely and continuously engaged the attention of historians in Spanish America itself. The pioneers of the last century, Bartolome Mitre in Argentina, Diego Barros Arana in Chile, Jose Maria Restrepo in Colombia, Lucas Alaman in Mexico-to mention only a few outstanding -names, none of which, incidentally, has attracted the notice of G. P. Gooch in his well-known History and Historians in the Ninetenth Century-have been followed by a host of investigators (though unevenly distributed as between the Spanish American states themselves), who have devoted themselves to the political, biographical, military, institutional and diplomatic aspects of the revolutionary period, though much less to its social and economic aspects.' And if the subject lends itself both to pietas and polemics, such names as those of Ricardo Levene and of the late Emilio Ravignani in Argentiina, of Ricardo Donoso in Chile, and of the late Eduardo Acevedo and Vicente Lecuna in Uruguay and Venezuela-names chosen almost at random from the ranks of older scholars and easily to be supplemented by those of younger men in Argentina, Uruguay, Chile, Peru, Colombia, Venezuela and Mexico in particular-testify to the past and present vigor of historical scholarship and to the high quality of much of the work produced. Outside Spanish America the case is different. When the late F. A. Kirkpatrick wrote his chapter on "The Establishment of Independence in Spanish America" in volume 10 of the Cambridge Mlod-

Field of study: History
Elongation of barley roots in high-pH nutrient solution is supported by both cell proliferation and differentiation in the root apex.

Many crops grow well on neutral or weakly acidic soils. The ability of roots to elongate under high-external pH would be advantageous for the survival of plants on alkaline soil. We found that root elongation was promoted in some plant species in alkaline-nutrient solution. Barley, but not tomato, root growth was maintained in pH 8 nutrient solution. Fe and Mn were absorbed well from the pH 8 nutrient solution by both barley and tomato plants, suggesting that the different growth responses of these two species may not be caused by insolubilization of transition metals. The ability of intact barley and tomato plants to acidify external solution was comparable; in both species, this ability decreased in plants exposed to pH 8 nutrient solution for 1 w. Conversely, cell proliferation and elongation in barley root apices were facilitated at pH 8 as shown by microscopy and cell-cycle-related gene-expression data; this was not observed in tomato. We propose that barley adapts to alkaline stress by increasing root development.

Field of study: Environmental science
LOW-CYCLIC REVERSED LOAD TEST ON NEW PRECAST CONCRETE SHORT-LEG SHEAR WALL

Alow cyclic reversed load test was carried out on two new precast concrete(NPC) and one cast-in-situ short-leg shear wall specimens.Compared with the cast-in-situ specimen,the strength,stiffness,ductility and energy dissipation of NPC specimens were grasped.The test result shows many contents.The failure mode of NPC specimen is obviously different from that of the cast-in-situ one.The horizontal joint is the weak part with a concentrateddeformation.The upper precast shear wall remains in a good condition and the failure presented asshear failure is concentrated in the lower precast shear wall.The finite element analysis shows that:the increase of the connect reinforcements of NPC specimens can increase the contact area of concrete in a horizontal joint,reduce the shear stress,and effectively improve the mechanical behavior of NPC shear wall and enhance its carrying capacity and deformation capacity.

Field of study: Engineering
Growing season drives the compositional changes and assembly processes of epiphytic bacterial communities of two submerged macrophytes in Taihu Lake.

Large amounts of epiphytic bacteria live on the leaf surfaces of submerged macrophytes in freshwater lakes. Despite the important roles in affecting host plant's health and biogeochemical cycling, the knowledge about epiphytic bacteria assembly is not sufficient. We studied epiphytic bacteria on two cohabiting plant species in Taihu Lake, China. Relative to plant identity and geographic distance, the plant-growing season played a prominent role in driving alpha and beta diversity (compositional variations) of epiphytic bacterial communities. The phylogeny-based null model analysis revealed that the growing season also drove the relative importance of deterministic versus stochastic processes underlying bacterial community assembly. In May when both plants start growth, the deterministic processes were most prominent, while in months later than June, the stochastic processes' effects increased substantially. Besides, we found a significant positive relationship between alpha diversity and compositional stochasticity, implying that stochastic processes may pose great effects on the maintenance of diversity and functioning of epiphytic bacteria in aquatic ecosystems. In summary, the growing season overwhelmed plant identity and spatial site in shaping epiphytic bacterial communities in Taihu Lake, which may suggest new clues in understanding the dynamics of epiphytic communities and their roles in large shallow lacustrine ecosystems.

Field of study: Biology, Environmental science
The Effects of Categorically Based Expectations on Minority Influence: The Importance of Congruence

The role of congruence and incongruence in diverse decision-making groups is examined by manipulating opinion agreement within and between members of different social categories. Congruence occurs when ingroup members agree with one another and outgroup members disagree, whereas incongruence occurs when an ingroup member disagrees with a majority composed of ingroup and outgroup members. The results of two studies, one using a scenario methodology and the second using simulated work teams with two ingroup members and one outgroup member, show that regardless of the task-relevance of salient differences, individuals respond most favorably when categorical and opinion differences are congruent. Study 1 examined individuals’ emotional reactions and group efficacy. Study 2 examined group performance, the minority influence process, and efforts to maintain congruence. The findings suggest that outgroup minority opinion holders may be more influential in diverse group decision-making settings than ingroup minority opinion holders.

Field of study: Psychology
Individual host taxa may resist the climate-mediated trend in herbivory: Cenozoic herbivory patterns in western North American oaks

The interactions between plant-eating insects and their hosts are hypothesized to shift dramatically as global temperatures increase. Examination of modern and fossil leaves has led to predictions of increased herbivory in a warmer world. However, climate induced changes in insect feeding may differ between individual host plants and their broader plant community. To examine how climate affects herbivory in a single, ecologically widespread host taxon, we studied insect feeding damage on the fossilized leaves of oaks ( Quercus ), which are host to a diverse group of herbivores and have been broadly distributed in temperate Northern Hemisphere floras throughout the Cenozoic. We examined oak leaves with ages that range from Eocene to Pliocene (38 to 5 Ma) with a range of mean annual temperatures (6.5–17.6 °C) and 3-month average precipitation levels (9.8–78.2 cm) to test whether insect damage on oaks is more intense in floras that grew under warmer and wetter conditions. Examination of leaves from thirteen floras from the western United States shows that neither mean annual temperature nor average precipitation was a significant determinant of overall insect damage. However, herbivory made by endophagous insects (gallers and leaf miners) was more prevalent in dry conditions. Temperature also was a significant determinant of gall and leaf mine damage; warmer floras tended to have more galls and fewer leaf mines. In addition, gallers and leaf miners show a high degree of host-fidelity through time. This pattern of host-fidelity suggests that feeding of endophagous insect herbivores is more climatically sensitive than that of more generalized, exophagous herbivores, and that future climatic change may not affect all host-herbivore systems, nor all herbivores within a single host system, in the same ways. Therefore, an increase in outbreaks of specialized insects on their hosts may be more likely than broadly increased herbivory as global temperatures increase.

Field of study: Environmental science, Geography
A Compact Radial Shearing Interferometer Based on the Law of Refraction

A brief review of radial shearing interferometers as well as a logical development of various types of these interferometers is presented. The discussion considers two types of interferometers. One type essentially introduces a radial shear in collimated light while in the other type a radial shear is introduced in converging light. Finally, a compact interferometer is described. This interferometer uses the Snell’s law of refraction for obtaining radial shear and consists of two identical prisms which make up a pentaprism. In one of the prisms, a hemispherical depression is made, and this is the basic element that introduces radial shear.

Field of study: Physics
Preparative High Performance Liquid Chromatography-based Multidimensional Chromatography and Its Application in Traditional Chinese Medicine

Separation of active components from Traditional Chinese medicine (TCM) is always difficult due to its complex matrix. The prep-HPLC-based multidimensional chromatography, which combined the characteristics of different separation techniques to improve separation capability and efficiency, is more conductive for separating and purifying complex TCMs. In this paper, we reviewed the basic principles, separation mode, key techniques of prep-HPLC-based multidimensional chromatography and its application in TCM research.

Field of study: Chemistry
A new method to estimate areas of occupancy using herbarium data

The World Conservation Union (IUCN) Red List of Threatened Species is an important instrument to evaluate the conservation status of living organisms. However, Red List assessors have been limited by the lack of reliable methods to calculate the area of occupancy (AOO) of species, which is an important parameter for red list assessments. Here we present a new practical method to estimate AOO based on herbarium specimen data: the Cartographic method by Conglomerates (CMC). This method, which combines elements from the Areographic and Cartographic methods previously used to calculate AOO, was tested with ten cactus species from the Chihuahuan Desert Region. The results derived from this novel procedure produced in average AOO calculations 3.5 and 5.5 smaller than the Areographic and Cartographic methods, respectively. The CMC takes into account the existence of disjunctions in the distribution range of the species, producing comparatively more accurate AOO estimations. Another advantage of the CMC is that it generates results more harmonic with the current Red List criteria. In contrast, the overestimated results of the Areographic and Cartographic methods tend to artificially categorize the species, even extremely narrow endemics, in lower endangerment status.

Field of study: Environmental science
Enabling decentralised management through federation

Cross-domain management is an increasingly important concern in network management and such management capability is a key-enabler of many emerging computing environments. This paper analyses the requirements for management systems that aim to support flexible and general capability sharing between autonomously managed domains. It introduces a novel Layered Federation Model (LFM) to structure this requirements analysis and describes the Federal Relationship Manager (FRM) which instantiates several layers of this model. The FRM combines semantic mapping management and authority management technologies to help solve several of the general management problems that are encountered whenever organisations enter into capability sharing agreements. An overview of related work on federation and the technical underpinnings of our approach are discussed and our work's particular relevance to real world problems is explained through two service-centric use cases which involve the end-to-end delivery of a multimedia stream to a user's home across several independent operators. Finally, experimental results are presented to highlight the practical advantages of our approach.

Field of study: Computer science