bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets
Authors: Huang Jianbo , Bao Xiaogang , Xia Wenjun , Zhu Lingjun , Zhang Jin , Ma Jing , Jiang Nan , Yang Jichun , Chen Qing , Jing Tianrui , Liu Jia , Ma Duan , Xu Guohua 
Published: August 2019

Objectives X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. It accounts for approximately 80% of familial cases of hypophosphataemia and serves as the prototype of defective tubular phosphate (PO43+) transport, due to extra renal defects resulting in unregulated FGF23 activity. XLHR is caused by loss-of-function mutations in the PHEX gene. The aim of this research was to identify the genetic defect responsible for familial hypophosphataemic rickets in a four-generation Chinese Han pedigree and to analyze the function of this mutation. Methods The genome DNA samples of all members in the pedigree were extracted from whole blood. We sequenced all exons of the PHEX and FGF23 genes, as well as the adjacent splice site sequence with Sanger sequencing. Next, we analyzed the de novo mutation c.1692 del A of the PHEX gene with an online digital service and investigated the mutant PHEX with SWISS-MODEL, immunofluorescence, and protein stability detection. Results Through Sanger sequencing, we found a de novo mutation, c.1692 del A, in exon 16 of the PHEX gene in this pedigree. This mutation can make the PHEX protein become unstable and decay rapidly, which results in familial XLHR. Conclusion We have found a de novo loss-of-function mutation, c.1692 del A, in exon 16 of the PHEX gene that can cause XLHR. Cite this article: J. Huang, X. Bao, W. Xia, L. Zhu, J. Zhang, J. Ma, N. Jiang, J. Yang, Q. Chen, T. Jing, J. Liu, D. Ma, G. Xu. Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets. Bone Joint Res 2019;8:405–413. DOI: 10.1302/2046-3758.88.BJR-2018-0276.R1.
Timing Games with Irrational Types: Leverage-Driven Bubbles and Crash-Contingent Claims
Authors: Matsushima Hitoshi 
Published: August 2019

Abstract
This study investigates strategic aspect of leverage-driven bubbles from the viewpoint of game theory and behavioral finance. Even if a company is unproductive, its stock price grows up according to an exogenous reinforcement pattern. During the bubble, this company raises huge funds by issuing new shares. Multiple arbitrageurs strategically decide whether to ride the bubble by continuing to purchase shares through leveraged finance.
We demonstrate two models that are distinguished by whether crash-contingent claim, i. e. contractual agreement such that the purchaser of this claim receives a promised monetary amount if and only if the bubble crashes, is available. We show that the availability of this claim deters the bubble; without crash-contingent claim, the bubble emerges and persists long even if the degree of reinforcement is insufficient. Without crash-contingent claim, high leverage ratio fosters the bubble, while with crash-contingent claim, it rather deters the bubble.
We formulate these models as specifications of timing game with irrational types; each player selects a time in a fixed time interval, and the player who selects the earliest time wins the game. We assume that each player is irrational with a small but positive probability. We then prove that there exists the unique Nash equilibrium; according to it, every player never selects the initial time. By regarding arbitrageurs as players, we give careful conceptualizations that are necessary to interpret timing games as models of leverage-driven bubbles.
Pragmatics in the interpretation of scope ambiguities
Authors: Apresjan Valentina 
Published: August 2019

AbstractThis paper presents a corpus study of pragmatic factors involved in interpreting potentially ambiguous sentences with negation and universal quantifiers, as demonstrated by the Russian sentenceOni ne uspejut vsjo eto sdelat’‘They won’t have time to do all this.’ Ambiguity in such sentences results from potential differences in scope assignment. If negation scopes over the quantifier, we get the interpretation of partial negation: ‘They will manage to do some of these things, but not everything.’ If negation scopes over the verb, we get total negation: ‘They won’t manage to do anything.’This study is based on Russian and English data extracted from a variety of corpora. We demonstrate that while syntactic conditions where scope ambiguity is possible are different for Russian and English, in situations when both languages allow it, speakers rely on the same pragmatic mechanisms for disambiguation that are based on Gricean cooperation principle and shared background knowledge. Disambiguation is facilitated by lexical markers, different for verb-negated and quantifier-negated readings, and similar in Russian and English. We show that the interpretation of the quantifier is pragmatically different for verb-negated and quantifier-negated readings (emphatic in the former case and quantificational in the latter), and lexical markers of each reading are semantically and pragmatically consistent with this difference. Namely, verb-negated readings occur primarily in the context of demonstrative pronouns in their pragmaticalized meaning of negative assessment and negatively connoted nouns, while quantifier-negated readings occur in the context of verbs with quantitative semantics and quantitative implicatures that consolidate the interpretation of quantification.
Dependency parsing of Polish
Authors: Wróblewska Alina , Rybak Piotr 
Published: August 2019

AbstractThe predicate-argument structure transparently encoded in dependency-based syntactic representations supports machine translation, question answering, information extraction, etc. The quality of dependency parsing is therefore a crucial issue in natural language processing. In the current paper we discuss the fundamental ideas of the dependency theory and provide an overview of selected dependency-based resources for Polish. Furthermore, we present some state-of-the-art dependency parsing systems whose models can be estimated on correctly annotated data. In the experimental part, we provide an in-depth evaluation of these systems on Polish data. Our results show that graph-based parsers, even those without any neural component, are better suited for Polish than transition-based parsing systems.
Sentiment analysis for Polish
Authors: Wawer Aleksander 
Published: August 2019

Abstract
This article is a comprehensive review of freely available tools and software for sentiment analysis of texts written in Polish. It covers solutions which deal with all levels of linguistic analysis: starting from word-level, through phrase-level and up to sentence-level sentiment analysis. Technically, the tools include dictionaries, rule-based systems as well as deep neural networks. The text also describes a solution for finding opinion targets. The article also contains remarks that compare the landscape of available tools in Polish with that for English language. It is useful from the standpoint of multiple disciplines, not only information technology and computer science, but applied linguistics and social sciences.
Semantic approach for building generated virtual-parallel corpora from monolingual texts
Authors: Wołk Krzysztof , Wołk Agnieszka , Marasek Krzysztof 
Published: August 2019

Abstract
Several natural languages have undergone a great deal of processing, but the problem of limited textual linguistic resources remains. The manual creation of parallel corpora by humans is rather expensive and time consuming, while the language data required for statistical machine translation (SMT) do not exist in adequate quantities for their statistical information to be used to initiate the research process. On the other hand, applying known approaches to build parallel resources from multiple sources, such as comparable or quasi-comparable corpora, is very complicated and provides rather noisy output, which later needs to be further processed and requires in-domain adaptation. To optimize the performance of comparable corpora mining algorithms, it is essential to use a quality parallel corpus for training of a good data classifier. In this research, we have developed a methodology for generating an accurate parallel corpus (Czech-English, Polish-English) from monolingual resources by calculating the compatibility between the results of three machine translation systems. We have created translations of large, single-language resources by applying multiple translation systems and strictly measuring translation compatibility using rules based on the Levenshtein distance. The results produced by this approach were very favorable. The generated corpora successfully improved the quality of SMT systems and seem to be useful for many other natural language processing tasks.
Emergency Department Pediatric Readiness and Mortality in Critically Ill Children
Authors: Ames Stefanie G. , Davis Billie S. , Marin Jennifer R. , Fink Ericka L. , Olson Lenora M. , Gausche-Hill Marianne , Kahn Jeremy M. 
Published: August 2019

BACKGROUND:
Emergency departments (EDs) vary in their level of readiness to care for pediatric emergencies. We evaluated the effect of ED pediatric readiness on the mortality of critically ill children.

METHODS:
We conducted a retrospective cohort study in Florida, Iowa, Massachusetts, Nebraska, and New York, focusing on patients aged 0 to 18 years with critical illness, defined as requiring intensive care admission or experiencing death during the encounter. We used ED and inpatient administrative data from the Agency for Healthcare Research and Quality’s Healthcare Cost and Utilization Project linked to hospital-specific data from the 2013 National Pediatric Readiness Project. The relationship between hospital-specific pediatric readiness and encounter mortality in the entire cohort and in condition-specific subgroups was evaluated by using multivariable logistic regression and fractional polynomials.

RESULTS:
We studied 20 483 critically ill children presenting to 426 hospitals. The median weighted pediatric readiness score was 74.8 (interquartile range: 59.3–88.0; range: 29.6–100). Unadjusted in-hospital mortality decreased with increasing readiness score (mortality by lowest to highest readiness quartile: 11.1%, 5.4%, 4.9%, and 3.4%; P &lt; .001 for trend). Adjusting for age, chronic complex conditions, and severity of illness, presentation to a hospital in the highest readiness quartile was associated with decreased odds of in-hospital mortality (adjusted odds ratio compared with the lowest quartile: 0.25; 95% confidence interval: 0.18–0.37; P &lt; .001). Similar results were seen in specific subgroups.

CONCLUSIONS:
Presentation to hospitals with a high pediatric readiness score is associated with decreased mortality. Efforts to increase ED readiness for pediatric emergencies may improve patient outcomes.
English Language Teaching in Colombia: A Necessary Paradigm Shift
Authors: Le Gal Damien 
Published: August 2019

In a first step, this article presents a reflection on the current state of the teaching of English as a Foreign Language (EFL) in Colombia. Analysing teachers’ certification and teacher training, methodologies, language policies, and materials used, the textdiscusses how these processes essentially relies on technology importation. In a second step, the article introduces the sociocritical approach (SA), a recent development in Foreign Language Teaching which would contribute to the aforementioned issue since SA implies a shift in current policies from a private to a public orientation, from a top-down to a bottom-up approach in order to implement a context-based and adapted English Language Teaching (ELT) in Colombia.
Improving Domain-Independent Planning via Critical Section Macro-Operators
Authors: Chrpa Lukáš , Vallati Mauro 
Published: August 2019

Macro-operators, macros for short, are a well-known technique for enhancing performance of planning engines by providing “short-cuts” in the state space. Existing macro learning systems usually generate macros from most frequent sequences of actions in training plans. Such approach priorities frequently used sequences of actions over meaningful activities to be performed for solving planning tasks.
This paper presents a technique that, inspired by resource locking in critical sections in parallel computing, learns macros capturing activities in which a limited resource (e.g., a robotic hand) is used. In particular, such macros capture the whole activity in which the resource is “locked” (e.g., the robotic hand is holding an object) and thus “bridge” states in which the resource is locked and cannot be used. We also introduce an “aggressive” variant of our technique that removes original operators superseded by macros from the domain model. Usefulness of macros is evaluated on several stateof-the-art planners, and a wide range of benchmarks from the learning tracks of the 2008 and 2011 editions of the International Planning Competition.
Effectiveness of Module Based Learning regarding Facility Based Newborn Care in terms of knowledge and practices among nursing students
Authors: Kumari Minal , Kumar Yogesh , Kaur Parvinder 
Published: August 2019

ABSTRACTBackground: Mobile Applications are being developed at a rapid speed and are intensively used by students. It can help to achieve better performance in organizing, managing, and monitoring classroom activities.Aims and objectives: Present study aimedto assess and compare the knowledge and practice regarding FBNC among nursing students in MBL group and MABL group before and after the administration of MBL and MABL. The conceptual framework of the study was based on CIPP model by Stufflebeam.Methods: A Quantitative research approach with quasi-experimental and non-equivalent controlgroup pre–test post–test design. The study was conducted at two nursing colleges of Ambala, Haryana. A total of 70 B.Sc. Nursing 3rd Year students, randomly allocated to 2 groups i.e. 35 in MBL and 35 in MABL. The tool used for the study consisted of structured knowledge questionnaire and observational check list was used to assess knowledge and practices by OSCE method of nursing students regarding FBNC. Data collection was done in January, 2017. The obtained data was analyzed and interpreted in terms of objectives and researchResults: Findingsof the study indicate that revealed that mean post- test knowledge and practices score in MBL group (21.4 ±0.89) and in MABL group (22.4 ± 0.54) was significantly higher than pre-test knowledge score in MBL group (14.6±15.0) and in MABL group (16.2±17.0). Also, the mean post-test practice score in MBL group (38.1±1.91) and in MABL group (38.9± 1.20) was significantly higher than pre-test practicescore in MBL (20.4 ± 3.70) as well as in MABL group (20.5 ± 4.26). Mild positive significant relationship (r=0.03) was found between post test score of knowledge and practicesConclusion: MABL was more effective in developing the practices of nursing students regarding FBNC than MBL.
A emergência da mídia nas conversas e produções infantis sobre livros literários
Authors: SILVEIRA ROSA MARIA HESSEL , Barbosa Liége Freitas 
Published: August 2019

O artigo parte de referências às discussões em torno da relação entre mídia e infância, enfatizando a existência atual de uma infância midiatizada. Considerando tal cenário, seu objetivo é analisar referências midiáticas - falas, desenhos e registros escritos que envolvem a mídia, compreendendo tanto as menções às “velhas mídias”, isto é, os meios tradicionais de comunicação (TV, rádio, impresso) quanto as menções às “novas mídias” (internet, jogos digitais etc.). As referências foram capturadas no desenrolar de uma pesquisa sobre leitura de livros literários, realizada através de sessões de leitura partilhada e discussão conjunta de livros previamente escolhidos com duas turmas de 4º e 5º ano de escolas públicas de Porto Alegre. A pesquisa da qual os dados são coletados não tem como objetivo a exploração da mídia, mas enfatiza a relação entre as leituras e as experiências pessoais das crianças. Como resultado não previsto, nas discussões e trabalhos (desenhos do cotidiano) motivados pela leitura de “O pato, a morte e a tulipa”, de Wolf Erbruch, e “A caminho de casa”, de Jairo Buitrago, emergiram referências variadas à presença da TV, de filmes, de celulares e videogames na vida das crianças, mesmo se levando em conta que a maioria delas não pertence a classes economicamente favorecidas. Lançamos mão de aportes teóricos de Sibilia (2012), Girardello e Orofino (2008), Fantin (2009), entre outros, para compreender a emergência de uma criança conectada tanto às velhas quanto às novas mídias, e concluímos que, se a produtividade da leitura literária está relacionada à necessária conexão entre texto e experiência do leitor, as vivências trazidas pela mídia integram de maneira radical os atos de leitura das crianças contemporâneas.
ENTRECRUZAMENTOS
Authors: Dos Santos Renata Callaça Gadioli 
Published: August 2019

O objetivo desse artigo é dimensionar, exploratoriamente, a relação entre arte e política, seja no viés da arte como denunciadora política dos padrões hegemônicos ou na forma como a política interfere nos modelos de ensinar e fazer arte. Arte consubstanciada emespaços públicos, para serem apreciadas pela população, como expectadores críticos. A busca epistemológica da relação entre arte e política, além da busca de políticas públicas construídas especificamente para as relações materializadas na sociedade ou atémesmo no espaçourbano requer o conhecimento tácito dessamesma relação. Rancière (2009) afirma que a estética e a política sãomaneiras de organizar o sensível. Afirma que a estética é a forma de dominar a sensível e expressá-lo empensamentos, sejamteatrais, artes visuais, literatura,música ou dança e que a política também se organiza a dar a entender, dar a ver, construir a visibilidade e a inteligibilidade dos acontecimentos. O artigo mostra, portanto, os momentos emque a arte e a política se encontraram e juntas sematerializaramempolíticas públicas ou objetos emespaços públicos das cidades. Temos assim o entrecruzamento da arte, da política e da cidade.
MENINGKATKAN HASIL BELAJAR SISWA MELALUI MODEL KOOPERATIF BERBASIS LESSON STUDY DI SMPN 31 BANJARMASIN
Authors: Suryani Erma , Arifuddin Muhammad , Miriam Sarah 
Published: August 2019

Kurangnya variasi strategi pembelajaran diduga menjadi penyebab rendahnya hasil belajar IPA siswa SMP Negeri 31 Banjarmasin. Model kooperatif berbasis lesson study dapat memperkaya siswa dengan pengalaman belajar kolaboratif yang berkelanjutan. Penelitian ini bertujuan untuk (1) mengetahui keterlaksanaan RPP dengan menggunakan model pembelajaran kooperatif berbasis lesson study, (2) mengetahui keterampilan sosial siswa pada proses pembelajaran dengan menggunakan model pembelajaran kooperatif berbasis lesson study, dan (3) mengetahui peningkatan hasil belajar siswa melalui model pembelajaran kooperatif berbasis lesson study. Penelitian ini adalah penelitian tindakan kelas yang terdiri dari 2 siklus dimana setiap siklus terdiri dari 2 pertemuan yang meliputi perencanaan, tindakan, pengamatan, dan refleksi. Teknik analisis data meliputi analisis secara kuantitatif dan kualitatif. Data yang diperoleh dari tes dan observasi. Hasil temuan penelitian dapat dirincikan sebagai berikut: (1) keterlaksanaan rencana pelaksanaan pembelajaran pada pertemuan 1 sebesar 67,9%, pertemuan 2 sebesar 76,8%, pertemuan 3 sebesar 81,0% dan pertemuan 4 meningkat menjadi 88,5%. (2) Pembelajaran dengan model kooperatif dapat meningkatkan keterampilan sosial siswa, terlihat dari pertemuan 1 sebesar 54,6%, pertemuan 2 sebesar 60,3%, pertemuan 3 sebesar 65,0% dan pertemuan 4 meningkat menjadi 70,3% (3) Ketuntasan hasil belajar secara klasikal dari siklus I 87,5% lalu meningkat pada siklus II menjadi 93,8%. Berdasarkan temuan tersebut, diperoleh simpulan bahwa hasil belajar siswa SMP Negeri 31 Banjarmasin meningkat dengan menerapkan model pembelajaran kooperatif berbasis lesson study.
PENGEMBANGAN PERANGKAT PEMBELAJARAN FISIKA SMA PADA MATERI FLUIDA STATIS MENGGUNAKAN PENDEKATAN PROBING PROMPTING LEARNING
Authors: Istiawati Iin , Mastuang Mastuang , Miriam Sarah 
Published: August 2019

Penelitian ini bertujuan untuk mendeskripsikan kelayakan perangkat pembelajaran materi fluida statis menggunakan pendekatan probing prompting learning. Penelitian pengembangan ini menggunakan model pengembangan ADDIE (Analysis, Design, Development, Implementation, Evaluation). Subjek uji coba, yaitu kelas XI IPA 3 SMA Negeri 10 Banjarmasin. Instrumen penelitian ini yaitu lembar validasi rencana pelaksanaan pembelajaran (RPP), lembar validasi materi ajar, lembar validasi lembar kerja siswa (LKS), lembar validasi tes hasil belajar (THB), lembar pengamatan keterlaksanaan RPP, THB, dan lembar penilian keterampilan proses sains (KPS). Analisis data menggunakan deskriptif kualitatif dan kuantitatif. Hasil penelitian menunjukan: 1) Perangkat pembelajaran dinyatakan valid dengan skor rata-rata 3,3, 2) Perangkat pembelajaran dinyatakan praktis dengan rata-rata 3,7 kriteria sangat tinggi, 3) Perangkat pembelajaran dinyatakan efektif dengan gain score 0,4 kriteria sedang, serta 4) Keterampilan proses sains siswa dalam kriteria terampil. Disimpulkan bahwa perangkat pembelajaran materi fluida statis menggunakan pendekatan probing prompting learning yang dikembangkan dinyatakan layak diterapkan dalam proses pembelajaran.
Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families
Authors: Wan Jia Yin , Cataby Christina , Liem Andrew , Jeffrey Emily , Norden-Krichmar Trina M , Goodman Deborah , Santorico Stephanie A , Edwards Karen L 
Published: August 2019

Abstract
Background

This study investigated the relationship between smoking and hearing loss and deafness (HLD) and whether the relationship is modified by genetic variation. Data for these analyses was from the subset of Japanese American families collected as part of the American Diabetes Association Genetics of Non-insulin Dependent Diabetes Mellitus study. Logistic regression with generalized estimating equations assessed the relationship between HLD and smoking. Nonparametric linkage analysis identified genetic regions harboring HLD susceptibility genes and ordered subset analysis was used to identify regions showing evidence for gene-smoking interactions. Genetic variants within these candidate regions were then each tested for interaction with smoking using logistic regression models.Results

After adjusting for age, sex, diabetes status and smoking duration, for each pack of cigarettes smoked per day, risk of HLD increased 4.58 times (OR=4.58 (1.40,15.03)), and ever smokers were over 5 times more likely than nonsmokers to report HLD (OR=5.22 (1.24, 22.03)). Suggestive evidence for linkage for HLD was observed in multiple genomic regions (Chromosomes 5p15, 8p23 and 17q21), and additional suggestive regions were identified when considering interactions with smoking status (Chromosomes 7p21, 11q23, 12q32, 15q26, and 20q13) and packs-per-day (Chromosome 8q21).Conclusions

To our knowledge this was the first report of possible gene-by-smoking interactions in HLD using family data. Additional work, including independent replication, is needed to understand the basis of these findings. HLD are important public health issues and understanding the contributions of genetic and environmental factors may inform public health messages and policies.