bluuebunny/crossref_metadata_2025_split huggingface dataset:
SOX9 is dispensable for the initiation of epigenetic remodeling and the activation of marker genes at the onset of chondrogenesis
Authors: Liu Chia-Feng , Angelozzi Marco , Haseeb Abdul , Lefebvre Véronique 
Published: July 2018

ABSTRACT
SOX9 controls cell lineage fate and differentiation in major biological processes. It is known as a potent transcriptional activator of differentiation-specific genes, but its earliest targets and its contribution to priming chromatin for gene activation remain unknown. Here, we address this knowledge gap using chondrogenesis as a model system. By profiling the whole transcriptome and the whole epigenome of wild-type and Sox9-deficient mouse embryo limb buds, we uncover multiple structural and regulatory genes, including Fam101a, Myh14, Sema3c and Sema3d, as specific markers of precartilaginous condensation, and we provide evidence of their direct transactivation by SOX9. Intriguingly, we find that SOX9 helps remove epigenetic signatures of transcriptional repression and establish active-promoter and active-enhancer marks at precartilage- and cartilage-specific loci, but is not absolutely required to initiate these changes and activate transcription. Altogether, these findings widen our current knowledge of SOX9 targets in early chondrogenesis and call for new studies to identify the pioneer and transactivating factors that act upstream of or along with SOX9 to prompt chromatin remodeling and specific gene activation at the onset of chondrogenesis and other processes.
Heterogeneous exposure and hotspots for malaria vectors at three study sites in Uganda
Authors: Kang Su Yun , Battle Katherine E. , Gibson Harry S. , Cooper Laura V. , Maxwell Kilama , Kamya Moses , Lindsay Steven W. , Dorsey Grant , Greenhouse Bryan , Rodriguez-Barraquer Isabel , Reiner Robert C. Jr. , Smith David L. , Bisanzio Donal 
Published: July 2018

Background: Heterogeneity in malaria transmission has household, temporal, and spatial components. These factors are relevant for improving the efficiency of malaria control by targeting heterogeneity. To quantify variation, we analyzed mosquito counts from entomological surveillance conducted at three study sites in Uganda that varied in malaria transmission intensity. Methods: Using a Bayesian zero-inflated negative binomial model, validated via a comprehensive simulation study, we quantified household differences in malaria vector density and examined its spatial distribution. We introduced a novel approach for identifying changes in malaria hotspots over time by computing the Getis-Ord statistic on ratios of household biting propensities for different scenarios. We also explored the association of household biting propensities with housing and environmental covariates. Results: In each site, there was evidence for hot and cold spots, spatial patterns associated with urbanicity, elevation, or other environmental covariates. We found some differences in the hotspots in rainy vs. dry seasons or before vs. after the application of control interventions. Housing quality explained a portion of the variation among households in mosquito counts. Conclusion: This work provided an improved understanding of heterogeneity in malaria vector density at the three study sites in Uganda and offered a valuable opportunity for assessing whether interventions could be spatially targeted to be aimed at hotspots of malaria risk. Indoor residual spraying was shown to be a successful measure of vector control interventions in Tororo, Uganda. Cement walls, brick floors, closed eaves, screened airbricks, and tiled roofs were features of a house that had shown protective effects towards malaria risk. Improvements in house quality should be recommended as a supplementary measure for malaria control.
Social Learning and the Design of New Experience Goods
Authors: Feldman Pnina , Papanastasiou Yiangos , Segev Ella 
Published: July 2018

Consumers often consult the reviews of their peers before deciding whether to purchase a new experience good; however, their initial quality expectations are typically set by the product’s observable attributes. This paper focuses on the implications of social learning for a monopolist firm’s choice of product design. In our model, the firm’s design choice determines the product’s ex ante expected quality, and designs associated with (stochastically) higher quality incur higher costs of production. Consumers are forward-looking social learners, and may choose to strategically delay their purchase in anticipation of product reviews. In this setting, we find that the firm’s optimal policy differs significantly depending on the level of the ex ante quality uncertainty surrounding the product. In comparison to the case where there is no social learning, we show that (i) when the uncertainty is relatively low, the firm opts for a product of inferior design accompanied by a lower price, while (ii) when the uncertainty is high, the firm chooses a product of superior design accompanied by a higher price; interestingly, we find that the product’s expected quality decreases either in the absolute sense (in the former case), or relative to the product’s price (in the latter case). We further establish that, contrary to conventional knowledge, social learning can have an ex ante negative impact on the firm’s profit, in particular when the consumers are sufficiently forward-looking. Conversely, we find that the presence of social learning tends to be beneficial for the consumers only provided they are sufficiently forward-looking. This paper was accepted by Serguei Netessine, operations management.
Decision making in early-stage colorectal cancer treatments: a literature review
Authors: Westwood Clare , McSherry Robert , Lee Tom , Bettany-Saltikov Josette 
Published: July 2018

Background: The introduction of the National Bowel Cancer Screening Programme has led to an increase in colorectal cancer diagnosed at an early stage. Advances in the options for treatmentof early-stage disease may have similar survival benefits but different risks and side effects. The decision on treatment for early stage bowel cancers can therefore be described as preference sensitive. Method: A literature review was conducted of 12 studies and reviews published 2007–2017, focusing on patient involvement in decisions on treatment following a diagnosis of colorectal cancer. The review covered both patient and clinician perspectives. Results: The review highlighted key themes that influence how far patients are involved in decisions regarding treatment. These themes include: patient understanding of the preference-sensitive nature of the decision, time pressures and perceived inapplicability of involving patients. Conclusion: Further studies are necessary to understand the experiences of patients and clinicians making treatment decisions in the context of early colorectal cancer, including polyp cancers. There is a lack of studies specifically addressing clinician experiences in this area.
Plotting the map projection graticule involving discontinuities based on combined sampling
Authors: Bayer Tomáš 
Published: July 2018

This article presents new algorithm for interval plotting the projection graticule on the interval $\varOmega=\varOmega_{\varphi}\times\varOmega_{\lambda}$ based on the combined sampling technique. The proposed method synthesizes uniform and adaptive sampling approaches and treats discontinuities of the coordinate functions $F,G$. A full set of the projection constant values represented by the projection pole $K=[\varphi_{k},\lambda_{k}]$, two standard parallels $\varphi_{1},\varphi_{2}$ and the central meridian shift $\lambda_{0}^{\prime}$ are supported. In accordance with the discontinuity direction it utilizes a subdivision of the given latitude/longitude intervals $\varOmega_{\varphi}=[\underline{\varphi},\overline{\varphi}]$, $\varOmega_{\lambda}=[\underline{\lambda},\overline{\lambda}]$ to the set of disjoint subintervals $\varOmega_{k,\varphi}^{g},$$\varOmega_{k,\lambda}^{g}$ forming tiles without internal singularities, containing only "good" data; their parameters can be easily adjusted. Each graticule tile borders generated over $\varOmega_{k}^{g}=\varOmega_{k,\varphi}^{g}\times\varOmega_{k,\lambda}^{g}$ run along singularities. For combined sampling with the given threshold $\overline{\alpha}$ between adjacent segments of the polygonal approximation the recursive approach has been used; meridian/parallel offsets are $\Delta\varphi,\Delta\lambda$. Finally, several tests of the proposed algorithms are involved.
Geodetic work at the archaeological site Tell el-Retaba
Authors: Stopková Eva 
Published: July 2018

The paper summarizes the geodetic contribution for the Slovak team within the joint Polish-Slovak archaeological mission at Tell el-Retaba in Egypt. Surveying work at archaeological excavations is usually influenced by somewhat specific subject of study and extreme conditions, especially at the missions in the developing countries. The case study describes spatial data development according to the archaeological conventions in order to document spatial relationships between the objects in excavated trenches. The long-term sustainability of surveying work at the site has been ensured by detailed metadata recording. Except the trench mapping, Digital Elevation Model has been calculated for the study area and for the north-eastern part of the site, with promising preliminary results for further detection and modelling of archaeological structures. In general, topographic mapping together with modern technologies like Photogrammetry, Satellite Imagery, and Remote Sensing provide valuable data sources for spatial and statistical modelling of the sites; and the results offer a different perspective for the archaeological research.
Influencing Factors on the Dielectric Breakdown Strength in F-gas Free High-voltage Switchgear
Authors: Gossmann S. , Lutz B. , Nikolic P. G. 
Published: July 2018

After being in the focus of sciences' and industry's research and development activities for many years, the investigation of possible SF<sub>6</sub> gas-alternatives has been even more intensified after the revision of the European regulation on fluorinated gases in 2014. In this contribution the influencing factors on the dielectric breakdown of clean air are investigated for weak inhomogeneous field and gas pressures up to 10 bar. Modelling approaches and experimental data are compared.
Analysis of Radiation Discretization for Modelling a Spark Gap for Surge Currents
Authors: Sander C. , Schmutz J.-E. , Kurrat M. 
Published: July 2018

In this paper we address a method for spectrally resolved radiation modelling in thermal plasmas encountered in surge protective devices based on spark gaps. Compared to most switching applications, power input and plasma pressure are much higher which leads to an optically thick plasma with line broadening and enhanced wall ablation. In this situation it is possible to capture the full effect of spectrally resolved radiation on plasma dynamics by performing line-by-line calculations with downsampled absorption spectra. We show that it is possible to achieve radiation convergence with 1000 lines. Approaches for a further reduction of calculation times using band-averaged models and $\kappa$-group models are discussed. The κ-group model is based upon a grouping of the absorption coefficients into subgroups with different ranges of κ before averaging. The spectral calculation results are compared to the approximative methods and significant differences for Rosseland means are observed.
IDIOPATHIC INFANTILE HYPERCALCEMIA . DESCRIPTION OF CLINICAL CASES AND REVIEW.
Authors: Tikhonovich Yulia V. , Kolodkina Anna A. , Kulikova Kristina S. , Golubkina Yulia Yu. , Kalinchenko Natalia Yu. , Savelieva Larisa V. , Kostik Mikhail M. , Rozhinskaya Ludmila Y. , Tiulpakov Anatoly N. 
Published: July 2018

Vitamin D plays a central role in calcium homeostasis. Impaired degradation of 1,25-dihydroxyvitamin D due to loss-of-function mutations in CYP24A1 leads to significant hypercalcemia, hypercalciuria, suppressed level of parathyroid hormone (PTH), nephrocalcinosis and nephrolithiasis. This condition has been called Idiopathic infantile hypercalcemia.
Treatment includes low calcium diet, rehydration, furosemid, avoidance of vitamin D supplements and sun protection. In severe cases glucocorticoids, ketoconazole, bisphosphonates and hemodiafiltration may be used.
Early diagnosis of the disease allows to develop an individual plan for managing these patients to prevent the formation of kidney disease, to conduct a genetic family counseling.
Here, we describe the cohort of patients (3 children, 2 adults) with significant hypercalcemia due to homo- and compound heterozygous mutations in CYP24A1, describe the main clinical and laboratory characteristics, diagnosis, principles and foundations of the management of patients with this pathology.
Unverricht-Lundborg disease in an adult female patient: a clinical case
Authors: Karlov V. A. , Zhidkova I. A. , Mishina E. Yu. , Vlasov P. N. , Margosyuk N. V. , Tingaeva L. P. , Perepelova E. M. , Perepelov V. A. , Gladov B. P. , Trukhanov S. A. 
Published: July 2018

We have considered it appropriate to publish this case due to the rarity of progressive myoclonus epilepsy; diagnostic difficulties, particularly in the early stages of the disease (the female patient has been long followed up for diagnosed juvenile myoclonic epilepsy); the relative role of a genetic study because it has not brought results in this case, and, finally, a problem with therapy, and a significant contribution to the achievement of certain success of currently available antiepileptic drugs, levetiracetam in particular.
Juvenile myoclonic epilepsy: neurophysiological aspects
Authors: Shilkina O. S. , Shnaider N. A. , Dmitrenko D. V. , Kim K. T. 
Published: July 2018

The review presents an update on the electroencephalographic characteristics and neurophysiology of juvenile myoclonic epilepsy (JME) in Russia and foreign countries.Materials and methods.The authors have performed a literary search for the full-text publications on JME electroencephalography and neurophysiology worldwide and in the Russian Federation, which are available in Russian and foreign databases.Results and discussion. Analysis of the literature suggests that JME patients have some electroencephalographic pattern features that include the atypical morphology of spike-and-slow-wave complexes, as well as amplitude asymmetry, focal discharges, focal onset of paroxysms, focal paroxysmal shift, and generalized paroxysmal fast rhythm.The analysis of the literature also indicates that primary care neurologists, clinical neurophysiologists, and epileptologists should be informed about the electroencephalographic characteristics of JME to timely diagnose the disease and to rule out the use of inadequate therapy.
Magnetic resonance spectroscopy of the brain in the diagnosis of temporal lobe epilepsy
Authors: Solomatova E. S. , Shnaider N. A. , Molgachev A. A. , Dmitrenko D. V. , Strotskaya I. G. 
Published: July 2018

The temporal lobe is the most epileptogenic region of the brain. 90% of patients with temporal ictal epileptomorphic EEG activity have a variable long history of seizures. Magnetic resonance spectroscopy (MRS) may be useful in identifying an epileptogenic focus in patients with epilepsy without apparent structural pathology at neuroimaging.Objective: to systematize the results of early studies on this issue.Materials and methods.An electronic search was carried out in two English-language (Medline, PubMed) and one Russian-language (eLIBRARY.RU) databases. The search queries found 18,019 citations, by which 12 full-text articles were selected.Results and discussion.The main criteria for the diagnosis of temporal lobe epilepsy by MRS is to lower the level of N-acetylaspartate (NAA), the ratio of NAA to creatinine + choline (NAA/(Cr + Cho) in the brain region where there is neuronal death or damage, as well as a change in the level of myo-inositol, the elevated level of which indicates the presence of an epileptogenic focus, while the decreased one shows the spread of pathological activity to the adjacent tissues.Conclusion.This review will contribute to a better diagnosis of temporal lobe epilepsy, as well as to the intravital noninvasive detection of metabolic changes in the brain long before the development of structural pathology.
A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism
Authors: Savelieva N. N. , Yakunina A. V. , Poverennova I. E. 
Published: July 2018

This paper describes a female patient aged 3 years 6 months with SYNGAP1-associated encephalopathy manifesting with symptomatic epilepsy, intellectual disability, and autism. There were difficulties in differential diagnosis, since in addition to SYNGAP1 mutation (c2214_2217deltgag), heterozygous BCKDHB gene mutation (chr6: 80910740G>a, rs3834233) and microduplication of a segment of chromosome 22 were found de novo. The features of the course and treatment of epilepsy in SYNGAP1 are discussed. A combination of valproic acid and oxcarbazepine was the most effective treatment for epilepsy.
Model Grey (1,1) dan Grey-Markov pada Peramalan Realisasi Penerimaan Negara
Authors: Ahdika Atina 
Published: July 2018

Setiap Negara memerlukan sumber penerimaan untuk mewujudkan pembangunan nasional dan membiayai segala keperluannya. Di Indonesia, terdapat tiga sumber utama penerimaan Negara; penerimaan pajak, penerimaan bukan pajak, serta penerimaan hibah baik dari dalam maupun luar negeri. Untuk mengantisipasi berbagai keperluan serta mengoptimalkan penggunaan penerimaan Negara, maka perlu adanya proyeksi realisasi penerimaan Negara dari ketiga sumber tersebut. Proyeksi tersebut dapat dilakukan dengan menggunakan model deret waktu klasik baik model deterministik maupun model stokastik. Namun demikian, pada model deret waktu klasik terdapat beberapa asumsi yang harus dipenuhi seperti pola data atau jumlah minimal data. Sebagai alternatif, pada penelitian ini akan dilakukan peramalan dengan menggunakan model Grey (1,1) dan Grey-Markov; perpaduan antara model Grey dengan analisis Rantai Markov. Model ini memiliki keunggulan dibandingkan model deret waktu klasik, yaitu tidak perlu adanya asumsi mengenai pola data serta peramalan dapat dilakukan meskipun data yang dimiliki cukup kecil (minimal 4 data). Hasil analisis menunjukkan bahwa model Grey-Markov secara umum memberikan akurasi peramalan yang lebih baik dibandingkan dengan model Grey (1,1).
[Every state requires a source of revenue to realize its national development and fund its needs. In Indonesia, there are three main sources of state revenues; tax, non-tax, and grant revenues both from within and outside the country. To anticipate various purposes and optimize the use of state revenues, it is necessary to project the realization of the revenues from these three sources. The projection can be done using a classical time series model in both deterministic and stochastic models. However, in the classical time series model there are several assumptions that must be met such as data patterns or minimal amount of data. Alternatively, in this study the data will be forecasted using Grey (1,1) model and Grey-Markov model; a combination of the Grey model with Markov Chain analysis. This models have advantages over the classical time series models, ie no need for assumption about data pattern and forecasting can be done even though there are small size data (at least 4 data). The results of the analysis show that generally Grey-Markov model provides better forecasting accuracy compared with Grey (1,1) model.]
Zero Inflated Negative Binomial (ZINB) untuk Pemodelan Frekuensi Bepergian Penduduk Kabupaten Tapanuli Selatan Tahun 2016
Authors: Yulian Eko 
Published: July 2018

Sektor pariwisata memiliki peran penting dalam pembangunan ekonomi wilayah karena dianggap mampu meningkatkan penerimaan daerah, terciptanya lapangan kerja dan peluang usaha serta pembangunan infrastruktur. Sumatera Utara menjadi tujuan wisata utama di pulau Sumatera bila dilihat dari besarnya persentase penerimaan dari wisatawan domestik. Salah satu kabupaten yang memiliki potensi lokasi wisata di Sumatera Utara adalah Kabupaten Tapanuli Selatan. Pemodelan aktivitas perjalanan wisata penduduk Kabupaten Tapanuli Selatan menggunakan Zero Inflated Binomial Negative (ZINB) karena mayoritas penduduk banyak yang tidak melakukan perjalanan (excess zero) dan terjadi underdispersi jika dilakukan pemodelan dengan Zero Inflated Poisson (ZIP). Pada ZINB bagian regresi Binomial Negatif (log-link) variabel yang berpengaruh signifikan terhadap frekuensi bepergian adalah variabel usia dan jenis kelamin, sedangkan pada zero inflation (logistic-link) part variabel yang berpengaruh adalah variabel tingkat pendidikan.
[Tourism Sectors has an important role in regional economic formation. It’s affected on increasing regional income, job creations and business opportunities, and infrastructure development. Sumatera Utara is a primary tourism destination in Sumatera Island. It can be seen in the income share of GDRP domestic tourism sector. One of region that has a lot of tourism sites is Tapanuli Selatan Regency. Tourism trip of Tapanuli Selatan people can be analyzed in Zero Inflated Binomial Negative (ZINB) because most of people didn’t do any trip (excess zero) in a periode of time is really possible and this case may drive the data to under or overdispersion. ZINB outcomes is consists two parts, Negative Binomial part and zero inflation part. The significant variable in Negative Binomial part (log-link) are age and sex. In zero inflation (logistic-link) part, education is significant variable.]
Penggunaan Jalur Pejalan Kaki di Koridor Jalan Pahlawan dan Jalan Pemuda Kota Semarang oleh Masyarakat Difabel
Authors: Pratama Pradipta 
Published: July 2018

Pahlawan streets and Pemuda streets has recently experienced significant improvements in improving the quality of public space in particular pedestrian ways. Significant improvements were addressed by the government of Semarang that all segments of society could use it more comfortable and safe, but in reality both pedestrian ways in the two corridors is still rarely seen used by people with disabilities. Referring to the problems it is the thought that research is needed to evaluate the use of pedestrian ways on Pahlawan streets and Pemuda streets for people with disabilities. The purpose of this study was to evaluate the use of pedestrian ways for people with disabilities as well as obtain the factors that cause minimal numbers people with disabilities who access the pedestrian ways. Research targets are to be achieved by identifying the feasibility s tudy of literature and the public perception of disability. The research method uses deductive research methods with qualitative descriptive analysis techniques. This technique is done by commenting on the feasibility of the elements contained in the pedestrian ways based on the literature and the public perception of disability. Based on a literature review that refers to problems in the field of research obtained variables which are divided into two focus the observation were variables pedestrian ways and variables public perception disabilities. For people with disabilities who selected were the physically disabled, visually impaired, hearing impaiired and ederly with perception measurement include comfort, convenience, safety, achievement, usability, sensitivity and independence. Based on the results of the analysis it is known that both the pedestrian ways on Pahlawan streets and Pemuda streets can not be said to be feasible for handicapped due to the lack of quality of both the pedestrian ways. It is also known that there are external and internal factors that dominate cause the minimum number of people with disabilities ranging from pedestrian ways conditions, their own motivation or desire, age and availability of transportation. Under these conditions, the improvements in both the pedestrian ways is necessary to improve the quality of its use for people with disabilities.