bluuebunny/crossref_metadata_2025_split huggingface dataset:
Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
Authors: Liu Qiuyan , Wang Haiqiao , Zhao Jianhui , Liu Zhicui , Sun Dianrong , Yuan Aiyun , Luo Guangjin , Wei Wei , Hou Mei 
Published: March 2020

AbstractJoubert syndrome (JS) is a rare clinically and genetically heterogeneous disease. Using whole or targeted exome sequencing, we identified four novel compound heterozygous mutations in chromosome 5 open reading frame 42 gene (C5orf42), including c.2876C>T (missense mutation) and c.3921+1G>A (splicing mutation), c.2292 ‐2delA (splicing mutation) and c.4067C>T (missense mutation), c.6997_6998insT (frameshift mutation) and c.8710C>T (nonsense mutation), c.3981G>C (nonsense mutation) and c.230 _233del (frameshift mutation), in four Chinese JS families. They were all inherited from their heterozygosis parents in the autosomal recessive inheritance mode. Pure JS clinical manifestations and mild neuroimaging findings were found in these patients. These verified the previous findings that C5orf42 mutations generally resulted in a purely neurological Joubert phenotype, and neuroimaging findings were mild in JS with C5orf42 mutations. Our report analyzed these C5orf42 mutations‐associated phenotypes and neuroimaging findings in JS and updated the genetic variation spectrum of JS caused by C5orf42.These will help clinicians and geneticists reach a more accurate diagnosis for JS.
STEM: A help or a hinderance in attracting more girls to engineering?
Authors: Naukkarinen Johanna K. , Bairoh Susanna 
Published: March 2020

AbstractBackgroundResearch on gender differences and practical initiatives to attract girls to engineering are often carried out at the macro level where science, technology, engineering, and mathematics are aggregated into an entity called STEM.Purpose/HypothesisThis article challenges the aggregated approach, analyzes gender differences among science and engineering applicants in Finland, and discusses the implications of the findings for engineering education and intervention initiatives.Design/MethodThe data consist of the application choices of all applicants to Bachelor studies in Finland in 2016 (151,369 individuals), from which two groups were selected: persons whose first application choice was engineering/technology and persons whose first choice was natural sciences or mathematics. The application choices of these individuals (in total 9,104) are statistically described and analyzed.ResultsEngineering/technology (TECH) and natural sciences and mathematics (SCIMA) subjects are not perceived as alternative options by female applicants. Almost 60% of all female TECH applicants and more than 50% of the female SCIMA applicants apply only to their respective programs. Moreover, TECH applicants considering other options prefer other subjects to SCIMA and vice versa.ConclusionsEncouraging more girls to study STEM is not a sufficient solution for attracting more women to engineering. Instead of or in addition to encouraging girls to study science and mathematics in K‐12 education, it is necessary to open the black box of technology and help young people better understand what engineering is about.
Interfacial fatigue damage behavior of fiber reinforced rubber—A combined experimental and cohesive zone model approach
Authors: Yu Xiaoming , Zhang Bin , Gu Boqin 
Published: March 2020

AbstractThe interfacial damage behavior of short fiber reinforced rubber sealing composites (SRRC) under fatigue load is researched in this article, where an experimental and cohesive zone model approach are employed. The fiber mass fractions of samples are 2%, 5%, and 10%, respectively. The curves of the fatigue strain (εn) varying with the fatigue cycle number (n) were obtained by the fatigue test. The damage patterns of SRRC with different fiber mass fractions were confirmed by scanning electron microscope. A finite element model (FEM) was established to predict interfacial fatigue damage, where the cohesive element was imbedded in the interface between fiber and matrix. The results show that theεn‐ncurves of SRRC predicted by FEM agree well with experimental data when fiber mass fractions are high. The samples with 5% fiber mass fraction are optimal to restrain the origination of the interfacial abhesion, and a possible damage path of SRRC is obtained.
The powerful world of antisense oligonucleotides: From bench to bedside
Authors: Quemener Anaïs M. , Bachelot Laura , Forestier Anne , Donnou‐Fournet Emmanuelle , Gilot David , Galibert Marie‐Dominique 
Published: March 2020

AbstractAntisense oligonucleotides (ASOs) represent a new and highly promising class of drugs for personalized medicine. In the last decade, major chemical developments and improvements of the backbone structure of ASOs have transformed them into true approved and commercialized drugs. ASOs target both DNA and RNA, including pre‐mRNA, mRNA, and ncRDA, based on sequence complementary. They are designed to be specific for each identified molecular and genetic alteration to restore a normal, physiological situation. Thus, the characterization of the underpinning mechanisms and alterations that sustain pathology is critical for accurate ASO‐design. ASOs can be used to cure both rare and common diseases, such as orphan genetic alterations and cancer. Through pioneering examples, this review shows the versatility of the mechanisms of action that provide ASOs with the potential capacity to achieve custom treatment, revolutionizing personalized medicine.This article is categorized under:
RNA in Disease and Development > RNA in Disease
RNA Interactions with Proteins and Other Molecules > Small Molecule–RNA Interactions
The cellular basis of organ failure in sepsis—signaling during damage and repair processes
Authors: Bauer M. , Wetzker R. 
Published: March 2020

AbstractSepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. This definition, updated in 2016, shifted the conceptual focus from exclusive attention to the systemic inflammatory response toward the multifactorial tissue damage that occurs during the progression of infection to sepsis and shock. Whereas targeting the inflammatory host response to infection did not translate into improved clinical management of sepsis, recent findings might shed new light on the maladaptive host–pathogen interaction in sepsis and pave the way for “theranostic” interventions. In addition to the well-known resistance responses of the immune system that result in pathogen clearance, “disease tolerance” has recently been acknowledged as a coping mechanism of presumably equal importance. We propose that both defense mechanisms, “resistance” and “disease tolerance”, can get out of control in sepsis. Whereas excessive activation of resistance pathways propagates tissue damage via immunopathology, an inappropriate “tolerance” might entail immunoparalysis accompanied by fulminant, recurrent or persisting infection. The review introduces key signaling processes involved in infection-induced “resistance” and “tolerance”. We propose that elaboration of these signaling pathways allows novel insights into sepsis-associated tissue damage and repair processes. Moreover theranostic opportunities for the specific treatment of sepsis-related hyperinflammation or immunoparalysis will be introduced. Agents specifically affecting either hyperinflammation or immunoparalysis in the course of sepsis might add to the therapeutic toolbox of personalized care in the field of organ dysfunction caused by infection. (This article is freely available.)
Backcrossing of a capercaillie × black grouse hybrid male in the wild revealed with molecular markers
Authors: Kleven Oddmund , Brøseth Henrik , Jonassen Kyrre , Pedersen Hans Christian 
Published: March 2020

AbstractThe black grouseLyrurus tetrixand the capercaillieTetrao urogallusare known to produce hybrids in wild populations. In general, these hybrids are regarded as infertile; however, conclusive evidence that F1-hybrids are infertile and unable to backcross in the wild are lacking. Using a molecular approach, we examined the ancestry of a bird assumed to be a male hybrid based on phenotypic characters. The specimen was legally shot during the hunting season in northern Norway in an area where the black grouse is common and the capercaillie is relatively rare. Analysis of the maternally inherited mitochondrial DNA revealed that the mother of the specimen was of capercaillie origin, while a diagnostic sex-chromosome (Z) linked microsatellite marker showed that the father had a black grouse allele. Diagnostic autosomal microsatellite markers revealed that the specimen was a backcross and not a first-generation hybrid. As galliform birds follow Haldane’s rule, i.e., that hybrid sterility is common in the heterogametic sex (female in birds), the hybrid parent of the backcross was, thus, likely a male. Our findings provide molecular evidence that capercaillie × black grouse F1-hybrid males can be fertile and successfully mate and backcross in a wild population.
Theoretical Insights into the Stability of Perovskite Clusters by Studying Magnetization and Magnetocaloric Effect of Nd0.6Sr0.4MnO3 Compound at Room Temperature
Authors: Issaoui F. , Dhahri E. , Hlil E. K. 
Published: March 2020

AbstractThe Nd0.6Sr0.4MnO3sample has been synthesized by the solid-state reaction. In this research paper, structural, morphological, magnetic and magnetocaloric properties are reported. The refinement by Fullprof has revealed the coexistence of both Pnma orthorhombic and R-3c rhombohedral phases. The obtained magnetic results show a paramagnetic–ferromagnetic transition atTC = 245 K. The magnetocaloric effect was estimated from the magnetic isotherms. We can estimate that the magnetic entropy change (ΔS) values by the Hamad theory are very close to those obtained using the classical Maxwell relation. Under an applied field 5 T, the maximum of the magnetic entropy change (ΔS) max and the relative cooling power is found to be 3.68 J/kg K and 216.03 J/kg, respectively. The obtained values are compared with those of some other reported manganite and show that our compound could be a promising candidate for magnetic refrigeration. Finally, the construction of the universal curve of the magnetic entropy change confirmed the studied manganite undergoes a second-order magnetic phase transition.
Executive compensation in Germany
Authors: Beck Daniel , Friedl Gunther , Schäfer Peter 
Published: March 2020

AbstractUnderstanding executive compensation and its effects helps design better organizations. Research on this area is thus of paramount importance. For large US companies, the ExecuComp database offers access to standardized and comprehensive executive compensation data. Hence, research on executive compensation has strongly focused on US companies. It is not clear that research results based on US data apply to other countries due to differences in corporate governance and culture. We have built up a database that is similar to ExecuComp for Germany, which is by far the largest economy in Europe. This database includes companies from the two largest German stock indices DAX and MDAX. We make these data available for academic research. We describe the data and we provide important results to outline the opportunities that our database offers. We find that only some of the empirical results for US companies such as the association between company size and pay level generalize to German companies while others such as compensation structure and the vertical pay inequality provide opportunities for further investigation.
Supercritical methane adsorption and storage in pores in shales and isolated kerogens
Authors: Rexer Thomas F. , Mathia Eliza J. , Aplin Andrew C. , Thomas K. Mark 
Published: March 2020

AbstractShale gas is an important hydrocarbon resource in a global context. It has had a significant impact on energy resources in the US, but the worldwide development of this methane resource requires further research to increase the understanding of the relationship of shale structural characteristics to methane storage capacity. In this study a range of gas adsorption, microscopic, mercury injection capillary pressure porosimetry and pycnometry techniques were used to characterize the full range of porosity in a series of shales of different thermal maturity. Supercritical methane adsorption methods for shale under conditions which simulate geological conditions (up to 473 K and 15 MPa) were developed. These methods were used to measure the methane adsorption isotherms of Posidonia shales where the kerogen maturity ranged from immature, through oil window, to gas window. Subcritical methane and carbon dioxide adsorption studies were used for determining pore structure characteristics of the shales. Mercury injection capillary pressure porosimetry was used to characterize the meso and macro porosity of shales. The sum of the CO2sorption pore volume at 195 K and mercury injection capillary pressure pore volumes (1093–5.6 nm) were equal to the corresponding total pore volume (< 1093 nm) thereby giving an equation accounting for virtually all the available shale porosity. These measurements allowed quantification of all the available porosity in shales and were used for estimating the contributions of methane stored as ‘free’ compressed gas and as adsorbed gas to overall methane storage capacity of shales. Both the mineral and kerogen components of shale were studied by comparing shale and the corresponding isolated kerogens so that the relative contributions of these components could be assessed. The results show that the methane adsorption characteristics were much higher for the kerogens and represented 35–60% of the total adsorption capacity for the shales used in this study, which had total organic contents in range 5.8–10.9 wt%. Microscopy studies revealed that the pore systems in clay-rich, organic-rich and microfossil-rich parts of shale are very different, and also the importance of the inter-granular organic-mineral interface.
Innovative Nanotechnological Formulations to Reach the Hepatic Stellate Cell
Authors: Poelstra Klaas 
Published: March 2020

AbstractPurpose of ReviewTreatment of liver fibrosis benefits from hepatic stellate cell (HSC)-specific delivery. Since the description of first carrier to HSC, many developments have taken place in this area. The purpose is to give an overview of the different carriers and homing moieties that are available for HSC targeting and illustrate the opportunities and hurdles they provide.Recent FindingsThere is a growing number of homing devices to deliver drugs to HSC, and options to deliver siRNA to HSC have emerged. Other developments include controlling corona formation, development of linker technology, and design of theranostic approaches. We are on the eve of reaching the clinic with innovative HSC-specific compounds.SummaryAn overview of different core molecules is presented together with an overview of targeting strategies toward different receptors on HSC, providing a versatile toolbox. Many therapeutics, ranging from small chemical entities and proteins to RNA- or DNA-modulating substances, have already been incorporated in these constructs in the recent years.
Associating State of Water and Sanitation with Childhood diarrhoea: Anomalies and Contradictions
Authors: Vijayan Bevin , Mishra Udaya 
Published: March 2020

Abstract
Information on safe water, sanitation and hand washing obtained in large scale surveys are used to validate its responsiveness to childhood ailments. Definition of these variables are uniform to enable comparison within and across countries and devoid of the context and circumstance. Associating these variables with prevalence of diarrhoea overlooking the context seem to distort the relationship and lead to spurious results. An empirical verification of such an association in an Indian context based on the most recently conducted NFHS-4 data set brings to the fore apparent contradictions that cautions on the use of these variables as they are obtained. It calls for a redefinition of these variables prior to verifying their responsiveness to childhood diarrhoea as illustrated here.
Assessing the Quality of Systematic Reviews in Healthcare Using AMSTAR and AMSTAR2
Authors: De Santis Karina Karolina , Kaplan Ilkay 
Published: March 2020

Abstract. The current study assessed the consistency between A Measurement Tool to Assess Systematic Reviews (AMSTAR) and its updated version (AMSTAR2) applied to the same systematic reviews in healthcare. Data from k = 10 systematic reviews were coded by two raters using AMSTAR and AMSTAR2. AMSTAR and AMSTAR2 perfectly agreed on a subset of nine individual items and strongly correlated based on the total scores (percentage scores: ρ = .84, p = .002, k = 10; absolute scores: Spearman ρ = .83, p = .003, k = 10). The overall review quality was medium to high on AMSTAR, while the overall confidence in the results was low to critically low on AMSTAR2 for the same systematic reviews. AMSTAR2 can identify the sources of strengths, weaknesses, and biases in systematic reviews. However, the interpretation of the overall confidence in results of systematic reviews requires additional guidelines for users.
The Solidus and Melt Productivity of Nominally Anhydrous Martian Mantle Constrained by New High Pressure‐Temperature Experiments—Implications for Crustal Production and Mantle Source Evolution
Authors: Ding Shuo , Dasgupta Rajdeep , Tsuno Kyusei 
Published: March 2020

AbstractWe constrained the solidus of a model Martian composition with low bulk Mg# (molar MgO/(MgO + FeOT) × 100 ~75) and high total alkali (Na2O + K2O = 1.09 wt.%) concentration at 2 to 5 GPa by experiments. Based on the new solidus brackets, we provide a new parameterization of the solidus temperature as a function of pressure of Martian mantle: Ts(°C) = − 5P (GPa)2 + 107P(GPa) + 1,068. The newly constrained solidus of the Lodders and Fegley (1997; https://doi.org/10.1006/icar.1996.5653) model Martian composition (LF composition) is 20 to 90 °C lower than the previous solidus of model Martian mantle with lower total alkali (~0.54 wt.%). The supersolidus experiments yield an average isobaric melt productivity, dF/dT, of 20 ± 6 wt.%/100 °C. We also bracketed the solidi of model Martian mantle compositions with low Mg# (~75) and low alkali (~0.54 wt.%), and with high Mg# (~80) and low alkali (~0.54 wt.%) at a constant pressure of 3 GPa. We find that bulk Mg# enhances the solidus temperature and bulk total alkalis suppress it. A parameterization that estimates the effect of bulk Mg# and total alkalis on peridotite solidus, including Mars and Earth, at 3 GPa can be described as: Ts(°C) = 4.23Mg # − 85(Na2O(wt. %) + K2O(wt. %)) + 1,120. Based on the new solidus parameterizations, 10–40 km more Martian crust would be produced by columnar decompression melting for LF model composition compared to the low Mg#‐low alkali model composition. The quantitative constraints on the solidus shift with Mg# and total alkalis from this study can be used to assess the Martian mantle solidus change through melting and melt extraction over time and the role of mantle heterogeneity in crustal production.
The Penetration of Solar Radiation Into Granular Carbon Dioxide and Water Ices of Varying Grain Sizes on Mars
Authors: Chinnery H. E. , Hagermann A. , Kaufmann E. , Lewis S. R. 
Published: March 2020

AbstractThe penetration depth of broad spectrum solar irradiation over the wavelength range 300–1,100 nm has been experimentally measured for water and carbon dioxide ices of different grain size ranges. Both of these ice compositions are found on the surface of Mars and have been observed as surface frosts, snow deposits, and ice sheets. The e‐folding scale of snow and slab ice has been previously measured, but understanding the behavior between these end‐member states is important for modeling the thermal behavior and surface processes associated with ice deposits on Mars, such as grain growth and slab formation via sintering, and carbon dioxide jetting leading to the formation of araneiforms. We find the penetration depth increases in a predictable way with grain size, and an empirical model is given to fit these data, varying with both ice composition and grain size.
Reliability and validity of a General Nutrition Knowledge Questionnaire for adults in a Romanian population
Authors: Putnoky Salomeia , Banu Ancuța Mioara , Moleriu Lavinia Cristina , Putnoky Sandra , Șerban Denis Mihai , Niculescu Mihai Dinu , Șerban Costela Lăcrimioara 
Published: March 2020

Abstract
Background
Nutritional knowledge assessment is an important component in nutrition research, and a prerequisite for the implementation of many policies and programs aimed at improving eating behavior. In order to generate objective results, validated tools for a given population must be employed. The aim of this study was to determine the validity and reliability of a nutrition knowledge questionnaire for Romanian adults.

Methods
Kleimann’s version of a General Nutrition Knowledge Questionnaire, was translated and adapted to Romanian language, culture, and cuisine. The final format was developed in several steps and used four components: internal and external reliability were assessed in a general population sample (n1 = 412), respectively in a subgroup (n2 = 46) from Component 1; Component 3 assessed construct validity (n3 = 96) using the “known-groups” method; Component 4 (convergent validity, n4 = 508) tested the association between socio-demographic characteristics and nutrition knowledge.

Results
The overall internal reliability was 0.878 and the external reliability was >0.880 in all sections, and overall. Specialists had higher scores than nonspecialists, with a very large effect size. In the general population, females scored higher than males, and middle-aged and older adults scored higher than young adults. Higher scores were associated with higher levels of education. The characteristics of individuals prone to giving wrong answers were: males (beta = 0.170), high school or less (beta = 0.167), and no training in nutrition (beta = 0.154).

Conclusions
The Romanian version of the General Nutrition Knowledge Questionnaire is a reliable and valid tool for measuring nutrition knowledge in adults.
Narcea—an unknown, ancient cultivated rose variety from northern Spain
Authors: Martínez María-Carmen , Santiago José-Luis , Boso Susana , Gago Pilar , Álvarez-Acero Inmaculada , De Vega María-Estela , Martínez-Bartolomé Miguel , Álvarez-Nogal Rafael , Molíst Pilar , Caser Matteo , Scariot Valentina , Gómez-García Daniel 
Published: March 2020

AbstractThe present work reports the discovery and the complete characterisation of an ancient cultivated rose variety found growing in a private garden in the southwest of the Principality of Asturias (northern Spain). The variety is here given the name Narcea. The majority of roses currently cultivated belong to the so-called group of ‘Modern Roses’, all of which were obtained after 1867 via artificial crosses and improvement programmes. All are destined for ornamental use. Until the 19th century, the great majority of the many ancient cultivated roses in Europe were used in perfumery and cosmetics, or had medicinal uses.Rosa damascenaandRosa centifolliaare still grown and used by the French and Bulgarian perfume industries. The Asturian Massif of the Cantabrian Mountain Range provides a natural habitat for some 75% of the wild members of the genusRosa, but until now there was no evidence that this area was home to ancient cultivated roses. A complete botanical description is here provided for a discovered ancient rose. It is also characterised according to a series of sequence tagged microsatellite sites, and its agronomic features are reported. In addition, a histological description (optical and scanning electronic microscope studies) of the petals is offered, along with an analysis of the volatile compounds present in these organs as determined by solid phase microextraction and gas chromatography-mass spectroscopy. The results reveal the uniqueness of this ancient type of rose and suggest it may be of interest to the perfume industry.