Miracle-dz/UniFAR-FTUs huggingface dataset:
Desmin splice variants causing cardiac and skeletal myopathy

Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desminresulting in deletion of the entire exon 3 during the pre-mRNA splicing. Sequencing of cDNA and genomic DNA identified a heterozygous de novo A to G change at the +3 position of the splice donor site of intron 3 (IVS3+3A→G) in a patient with sporadic skeletal and cardiac myopathy. A G to A transition at the highly conserved –1 nucleotide position of intron 2 affecting the splice acceptor site (IVS2-1G→A) was found in an unrelated patient with a similar phenotype. Expression of genomic DNA fragments carrying the IVS3+3A→G and IVS2-1G→A mutations confirmed that these mutations cause exon 3 deletion. Aberrant splicing leads to an in frame deletion of 32 complete codons and is predicted to result in mutant desmin lacking 32 amino acids from the 1B segment of the alpha helical rod. Functional analysis of the mutant desmin in SW13 (vim-) cells showed aggregation of abnormal coarse clumps of desmin positive material dispersed throughout the cytoplasm. This is the first report on the pathogenic potentials of splice site mutations in the desmingene.
Interactive Question Answering

The increasing amount of information available online has led to the development of technologies that help to deal with it. One of them is interactive question answering (IQA), a research field that has emerged at the intersection of question answering and dialogue systems, and which allows users to find the answers to questions in an interactive way. During the answering process, the automatic system can initiate a dialogue with the user in order to clarify missing or ambiguous information, or suggest further topics for discussion. This chapter presents the stateof-the-art in the field of interactive question answering. Given that IQA inherits a lot of features from dialogue systems and question answering, these fields are also briefly presented. Analysis of the existing systems reveals that in general IQA systems rely on a scaled-down version of a dialogue system, sometimes built on top of question answering systems. Evaluation of IQA is also discussed, showing that it combines evaluation techniques from question answering and dialogue systems.
Approaches to studying and perceptions of the academic environment among university students in China

It has been claimed that students from “Confucian-heritage” cultures approach studying in higher education differently from Western students. This study investigated the experiences and the approaches to studying of students at a university in China. A total of 356 students completed both the Course Experience Questionnaire (CEQ) and the Revised Approaches to Studying Inventory (RASI). Their responses to the CEQ yielded two factors concerned with student support and course demands. Their responses to the RASI yielded two factors: a deep/strategic approach and a surface approach. Students who rated their courses positively in terms of student support were more likely to adopt a deep/strategic approach. Students who rated their courses positively in terms of course demands were less likely to adopt a surface approach. In broad terms, the students' perceptions and approaches to studying were similar to those of Western students, though with some specific differences. The findings add to the literature on Chinese students' approaches to learning and also have practical implications for teachers seeking to promote more desirable forms of studying in their students.
Palaeoecophylostoichiometrics Searching for the Elemental Composition of the Last Universal Common Ancestor

We discuss the conservation of different elemental ratios across different taxa. It may be possible to use stoichiometric and phylogenetic relationships between taxa to investigate how changes in the distribution of elements in environments such as the oceans, may have affected the evolution of life over the past ∼4 billion years – particularly during the great oxidation event∼2.4 billion years ago.
Students’ evocative impact on teacher instruction and teacher–child relationships

Classroom research has typically focused on the role of teaching practices and the quality of instruction in children’s academic performance, motivation and adjustment—in other words, classroom interactions initiated by the teacher. The present article presents a model of classroom interactions initiated by the child, that is, the notion that a child’s characteristics and active efforts may evoke different instructional patterns and responses among teachers. Then follows a review of previous research on the role of children’s academic performance, their motivation and their socio-emotional characteristics in their teachers’ instruction methods and teacher–child relationships. Some of the mechanisms that may be responsible for these “evocative impacts” are discussed. Classroom interactions initiated by the child, and those initiated by the teacher will then be considered from the perspective of the transactional theory of teacher–child interactions. Finally, some conclusions are drawn concerning possible future classroom research.
HISTOCHEMICAL ACYLATION OF ALDEHYDES PRODUCED BY PERIODIC ACID OXIDATION

Aldehydes produced in tissue sections by periodic acid oxidation are readily acetylated or benzoylated so as to weaken or completely prevent the Schiff and other chromogenic reactions. The reactivity of acylated aldehydes to Schiff reagent is promptly restored by saponification in alcoholic potassium hydroxide solution (10-20 min, 1% KOH, 70% ethanol). Benzoylation with 5-10% benzoyl chloride in pyridine gave the promptest, most complete and consistent aldehyde blockade, which was somewhat inferior on addition of 0.5% sulfuric acid. Pyridine acetic anhydride mixtures, 25, 40 and 50% gave partial to complete blockade. Addition of 0.25-0.5% sulfuric acid did not give consistent effects. Acetic anhydride at 60°C gave partial blockade at ½-5 hr, on addition of 0.01-0.25% sulfuric acid total or subtotal blockade was achieved. Acetylation in alcohol gave inferior resutlts. Use of 25% acetic anhydride ims glacial acetic acid gave inferior results; addition of 0.25% sulfuric acid produced total to subtotal blockade at 4-5 hr. Glacial acetic acid was without appreciable blockade effect. Sulfation in 10% and 25% H2SO4/glacial acetic acid failed to blockade aldehydes. Experiments with the peracetic acid Schiff reaction for ethylene groups indicate that some proportion of enol monobenzoate may be formed, and that with the various acetylation techniques a smaller or negligible proportion of enol acetate is formed. Acetic anhydride with 0.25% H2S04 at 60° appears to form only aldehyde diacetate. Experiments with the bromination silver techniques did not give satisfactory results.
Language deficits in poor comprehenders: a case for the simple view of reading.

PURPOSE To examine concurrently and retrospectively the language abilities of children with specific reading comprehension deficits ("poor comprehenders") and compare them to typical readers and children with specific decoding deficits ("poor decoders"). METHOD In Study 1, the authors identified 57 poor comprehenders, 27 poor decoders, and 98 typical readers on the basis of 8th-grade reading achievement. These subgroups' performances on 8th-grade measures of language comprehension and phonological processing were investigated. In Study 2, the authors examined retrospectively subgroups' performances on measures of language comprehension and phonological processing in kindergarten, 2nd, and 4th grades. Word recognition and reading comprehension in 2nd and 4th grades were also considered. RESULTS Study 1 showed that poor comprehenders had concurrent deficits in language comprehension but normal abilities in phonological processing. Poor decoders were characterized by the opposite pattern of language abilities. Study 2 results showed that subgroups had language (and word recognition) profiles in the earlier grades that were consistent with those observed in 8th grade. Subgroup differences in reading comprehension were inconsistent across grades but reflective of the changes in the components of reading comprehension over time. CONCLUSIONS The results support the simple view of reading and the phonological deficit hypothesis. Furthermore, the findings indicate that a classification system that is based on the simple view has advantages over standard systems that focus only on word recognition and/or reading comprehension.
Lighting: Its Influence on Drawing Strategies

The illumination of a scene influences how that scene is scanned and how it is depicted. This premise, together with assumptions regarding implications for teaching observational drawing, was the basis for a pilot study in the Nova Scotia College of Art and Design (NSCAD) Drawing Laboratory. The pilot provided evidence that helped refine the question and methods described in this expanded study. As in the pilot, participants worked from common stimuli that were lit in two distinct ways. The participants drew for a predetermined period of time while their hand movements were recorded digitally and the entire process was observed firsthand. Over a period of 7 days, five participants each completed four drawings. The 20 drawings were compared and the recordings analyzed. Digital analysis generated the most informative data in that, while light’s influence on drawing strategies proved to be less significant than anticipated, changes in drawing behavior were observed with implications for teaching and learning.
Joint estimation and contention-resolution protocol for wireless random access

We propose a contention-based random-access protocol, designed for wireless networks where the number of users is not a priori known. The protocol operates in rounds divided into equal-duration slots, performing at the same time estimation of the number of users and resolution of their transmissions. The users independently access the wireless link on a slot basis with a predefined probability, resulting in a distribution of user transmissions over slots, based on which the estimation and contention resolution are performed. Specifically, the contention resolution is performed using successive interference cancellation which, coupled with the use of the optimized access probabilities, enables throughputs that are substantially higher than the traditional slotted ALOHA-like protocols. The key feature of the proposed protocol is that the round durations are not a priori set and they are terminated when the estimation/contention-resolution performance reach the satisfactory levels.
Preparation of calcium aluminate cement for hard tissue repair: effects of lithium fluoride and maleic acid on setting behavior, compressive strength, and biocompatibility.

We investigated lithium fluoride (LiF) and maleic acid (MA) containing calcium aluminate cement (CAC) for hard tissue repair. The objective of this study is to estimate the addition effects of LiF and MA on setting behavior, compressive strength, and biocompatibility of CAC and to find the most compatible composition of LiF and MA for using CAC as a new bone cement. The CAC was composed mainly of CaO. Al(2)O(3). Samples of LiF and MA containing CAC were formed along with recording of setting time and peak temperature and then set cement was analyzed by X-ray diffraction (XRD). Agar diffusion test, tetrazolium bromide (MTT) assay, and hemolysis test were used to detect initial in vitro biocompatibility of LiF and MA containing CAC. It was revealed from the results that LiF shortened setting time and decreased compressive strength, whereas MA delayed setting time and increased compressive strength. However, LiF and MA showed no or little influence on maximum temperature of CAC. CAC containing 0.5 g of LiF and 8.75 g of MA showed the highest compressive strength (111.64 +/- 7.74 MPa) across all the experimental compositions. The CACs containing 0.5 g of LiF/8.75 g of MA and 1.01 g LiF/8.75 g of MA had no cytotoxicity and hemolysis. In this study, CAC with 0.5 g of LiF and 8.75g of MA showed the most compatible properties for using bone cement, and thus it was assessed a candidate for a new bone cement along with CAC.
Development of patient-specific biomechanical models for predicting large breast deformation

Physically realistic simulations for large breast deformation are of great interest for many medical applications such as cancer diagnosis, image registration, surgical planning and image-guided surgery. To support fast, large deformation simulations of breasts in clinical settings, we proposed a patient-specific biomechanical modelling framework for breasts, based on an open-source graphics processing unit-based, explicit, dynamic, nonlinear finite element (FE) solver. A semi-automatic segmentation method for tissue classification, integrated with a fully automated FE mesh generation approach, was implemented for quick patient-specific FE model generation. To solve the difficulty in determining material parameters of soft tissues in vivo for FE simulations, a novel method for breast modelling, with a simultaneous material model parameter optimization for soft tissues in vivo, was also proposed. The optimized deformation prediction was obtained through iteratively updating material model parameters to maximize the image similarity between the FE-predicted MR image and the experimentally acquired MR image of a breast. The proposed method was validated and tested by simulating and analysing breast deformation experiments under plate compression. Its prediction accuracy was evaluated by calculating landmark displacement errors. The results showed that both the heterogeneity and the anisotropy of soft tissues were essential in predicting large breast deformations under plate compression. As a generalized method, the proposed process can be used for fast deformation analyses of soft tissues in medical image analyses and surgical simulations.
Comparison and Contrast of Orem's Self Care Theory and Roy's Adaptation Model

Nursing theories are designed by nurses to define nursing and its essence. Clark (1986) states that “Nurses who deliver patient care need to apply and evaluate the numerous theories and models proposed as guides to nursing practice” (p. 127). The basic idea of these theories is to explain the profession of nursing, its practices and an in depth understanding of its concepts. These theories then provide further direction to nursing practice and education (Jones, 1978). The applicability and generalizability of the theories may not be achieved in certain situations. It is however possible that a part of a theory matches a situation but the other parts of it may not. Regardless of all, nursing theories are valuable and useful in terms of guiding and conceptualizing nursing practice. Dorothy Orem’s Self-Care Deficit Theory and Sister Callista Roy’s Adaptation Model are examples of such valuable theories.
Variation and dynamic systems in SLA

In their paper De Bot, Lowie and Verspoor (henceforth DBL&V) attempt to recast SLA research from a non-modular and psychometric position that is based on the assumption that “all variables are interrelated and therefore changes in one variable will have an impact on all other variables that are part of the system” (p. 8). In such grand endeavour their paper naturally raises a large number of issues in SLA research.
Deletion of cytosolic gating ring decreases gate and voltage sensor coupling in BK channels

Large conductance Ca2+-activated K+ channels (BK channels) gate open in response to both membrane voltage and intracellular Ca2+. The channel is formed by a central pore-gate domain (PGD), which spans the membrane, plus transmembrane voltage sensors and a cytoplasmic gating ring that acts as a Ca2+ sensor. How these voltage and Ca2+ sensors influence the common activation gate, and interact with each other, is unclear. A previous study showed that a BK channel core lacking the entire cytoplasmic gating ring (Core-MT) was devoid of Ca2+ activation but retained voltage sensitivity (Budelli et al. 2013. Proc. Natl. Acad. Sci. USA. http://dx.doi.org/10.1073/pnas.1313433110). In this study, we measure voltage sensor activation and pore opening in this Core-MT channel over a wide range of voltages. We record gating currents and find that voltage sensor activation in this truncated channel is similar to WT but that the coupling between voltage sensor activation and gating of the pore is reduced. These results suggest that the gating ring, in addition to being the Ca2+ sensor, enhances the effective coupling between voltage sensors and the PGD. We also find that removal of the gating ring alters modulation of the channels by the BK channel’s &bgr;1 and &bgr;2 subunits.
Effect of chlorine, biodegradable dissolved organic carbon and suspended bacteria on biofilm development in drinking water systems

The influence of chlorine levels, the concentration of dissolved organic carbon and the abundance of bacteria in suspension, on the formation of biofilms on experimental glass surfaces were evaluated. Twelve reactors, packed with glass spheres, were continuously perfused with tap water. The properties of water were altered in different ways: chlorine was neutralized by the addition of thiosulfate, the levels of assimilable organic carbon were increased through the addition of acetate, and the bacterial load was modified by means of the continuous inoculation of a growing active culture of Pseudomonas aeruginosa. Continuous addition of bacteria to water containing 0.5 mg/l of free chlorine, did not result in the formation of detectable biofilms even after one month. When bacteria were added simultaneously with thiosulfate as a chlorine neutralizer, a community of attached bacteria appeared in less than 24 hours. Addition of acetate with the presence of 0.5 mg/l of chlorine did not stimulate the formation of biofilms. On the contrary, neutralization of chlorine with thiosulfate allowed the formation of biofilms with 106 cfu/cm2 in about two weeks.
Semantic Similarity Measures Applied to an Ontology for Human-Like Interaction

The focus of this paper is the calculation of similarity between two concepts from an ontology for a Human-Like Interaction system. In order to facilitate this calculation, a similarity function is proposed based on five dimensions (sort, compositional, essential, restrictive and descriptive) constituting the structure of ontological knowledge. The paper includes a proposal for computing a similarity function for each dimension of knowledge. Later on, the similarity values obtained are weighted and aggregated to obtain a global similarity measure. In order to calculate those weights associated to each dimension, four training methods have been proposed. The training methods differ in the element to fit: the user, concepts or pairs of concepts, and a hybrid approach. For evaluating the proposal, the knowledge base was fed from Word Net and extended by using a knowledge editing toolkit (Cognos). The evaluation of the proposal is carried out through the comparison of system responses with those given by human test subjects, both providing a measure of the soundness of the procedure and revealing ways in which the proposal may be improved.
Improving Chinese named entity recognition with lexical information

Named entity recognition (NER) plays a critical role in many natural language processing applications. Chinese NER is usually formalized as a chunking task. However, most formulations do not distinguish named entities from common words. This makes it difficult to explore lexical cues for NER. In this paper we propose a two-level IOB2 representation to merge lexical chunks and entity chunks, and develop a morpheme-based chunking system for Chinese NER. It works in three main steps: Given a plain Chinese sentence, a morpheme segmenter first segments it into a sequence of morphemes, then a lexical chunker is applied to tag each segmented morpheme with a proper lexical chunk tag indicating its position pattern in forming a word of a special type, and finally an entity chunker continues to label each morpheme with a hybrid chunk tag, containing the related entity boundary and category information if any. Our experiments on the IEER-99 and MET2 data demonstrate a significant enhancement of NER performance after using entity-internal part-of-speech information. We also show that lexical chunking quality is of importance for NER results.
Large-scale Supervised Hierarchical Feature Learning for Face Recognition

This paper proposes a novel face recognition algorithm based on large-scale supervised hierarchical feature learning. The approach consists of two parts: hierarchical feature learning and large-scale model learning. The hierarchical feature learning searches feature in three levels of granularity in a supervised way. First, face images are modeled by receptive field theory, and the representation is an image with many channels of Gaussian receptive maps. We activate a few most distinguish channels by supervised learning. Second, the face image is further represented by patches of picked channels, and we search from the over-complete patch pool to activate only those most discriminant patches. Third, the feature descriptor of each patch is further projected to lower dimension subspace with discriminant subspace analysis. Learned feature of activated patches are concatenated to get a full face representation.A linear classifier is learned to separate face pairs from same subjects and different subjects. As the number of face pairs are extremely large, we introduce ADMM (alternative direction method of multipliers) to train the linear classifier on a computing cluster. Experiments show that more training samples will bring notable accuracy improvement. We conduct experiments on FRGC and LFW. Results show that the proposed approach outperforms existing algorithms under the same protocol notably. Besides, the proposed approach is small in memory footprint, and low in computing cost, which makes it suitable for embedded applications.
Customized biomimetic scaffolds created by indirect three-dimensional printing for tissue engineering

Three-dimensional printing (3DP) is a rapid prototyping technique that can create complex 3D structures by inkjet printing of a liquid binder onto powder biomaterials for tissue engineering scaffolds. Direct fabrication of scaffolds from 3DP, however, imposes a limitation on material choices by manufacturing processes. In this study, we report an indirect 3DP approach wherein a positive replica of desired shapes was printed using gelatin particles, and the final scaffold was directly produced from the printed mold. To create patient-specific scaffolds that match precisely to a patient's external contours, we integrated our indirect 3DP technique with imaging technologies and successfully created custom scaffolds mimicking human mandibular condyle using polycaprolactone and chitosan for potential osteochondral tissue engineering. To test the ability of the technique to precisely control the internal morphology of the scaffolds, we created orthogonal interconnected channels within the scaffolds using computer-aided-design models. Because very few biomaterials are truly osteoinductive, we modified inert 3D printed materials with bioactive apatite coating. The feasibility of these scaffolds to support cell growth was investigated using bone marrow stromal cells (BMSC). The BMSCs showed good viability in the scaffolds, and the apatite coating further enhanced cellular spreading and proliferation. This technique may be valuable for complex scaffold fabrication.