bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts
Authors: Zhou Kai , Huang Lancheng , Feng Menglong , Li Xinlei , Zhao Yi , Liu Fei , Wei Jiazhang , Qin Danxue , Lu Qiutian , Shi Min , Qu Shenhong , Tang Fengzhu 
Published: August 2020

AbstractBackgroundVariants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.MethodsWe collected blood samples and clinical data from a pair of deaf twin sisters with EVA and their family members. As controls, a group of 500 normal‐hearing people were enrolled in our study. Twenty‐one exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations by polymerase chain reaction and bidirectional Sanger sequencing. Minigene assays were used to verify whether the novel SLC26A4 intronic mutation influenced the normal splicing of mRNA.ResultsHearing loss in the twins with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.919‐2A>G and c.1614+5G>A were detected in SLC26A4, the latter of which has not been reported in the literature. The minigene expression in vitro confirmed that c.1614+5G>A could cause aberrant splicing, resulting in skipping over exon 14.ConclusionsOn the SLC26A4 gene, c.1614+5G>A is a pathogenic mutation. This finding enriches the mutational spectrum of the SLC26A4 gene and provides a basis for the genetic diagnosis of EVA.
Convolutional neural network‐based dosimetry evaluation of esophageal radiation treatment planning
Authors: Jiang Dashan , Yan Hui , Chang Na , Li Teng , Mao Ronghu , Du Chi , Guo Bin , Liu Jianfei 
Published: August 2020

PurposeA dosimetry evaluation model for treatment planning of esophageal radiation therapy is developed using a deep learning model. The model predicts dose volume histogram (DVH) from distance to target histogram (DTH) based on stacked de‐noise auto‐encoder (SDAE) and one‐dimensional convolutional network (1D‐CN).MethodFirst, SDAE is used to extract the features from the curves of DTH and DVH. Then 1D‐CN model is employed to learn the relationship between the features of DTH and DVH, and later used to predict the features of DVH from the features of DTH. Finally, the curve of DVH is restored from the features of DVH based on SDAE. Two hundred and seventy treatment plans are used for training 1D‐CN and another sixty‐three treatment plans are used for evaluating this model. This method is also compared with another two popular prediction methods based on support vector machine (SVM) and U‐net.ResultsBased on the experimental result, the proposed model achieves the lowest dose endpoint error comparing to the other models. The average prediction error on planned target volume, left lung, right lung, heart, and spinal cord is 2.94% for the proposed model, while the average prediction errors are 6.79% and 3.41% for SVM and U‐net, respectively.ConclusionsA dosimetry evaluation method based on SDAE and 1D‐CN is developed in characterizing the correlation relationship between DTH and DVH of treatment plans. The results show that the model could be trained more efficiently in this framework and the DVH could be predicted with higher accuracy comparing to those existing methods. It provides a useful tool in supporting automated treatment planning of esophageal intensity‐modulated radiotherapy.
Modeling of progressive damage in concrete using multidimensional virtual internal bond method
Authors: Jalwadi Sudhindra N. , Bhandakkar Tanmay K. 
Published: August 2020

SummaryDamage simulation via tensile and shear failure modes in quasi‐brittle material like concrete is computationally challenging. Multidimensional virtual internal bond (MVIB) method is one of the promising method developed to capture shear failure in materials like concrete. It assumes continuum as an assemblage of material points joined by normal and shear bonds possessing harmonic potential and bond density evolution function, which degrades with deformation to yield at macroscopic level, stress–strain law with inbuilt feature of failure via Cauchy–Born rule. The degradation of bond‐density in MVIB method originally based solely on compressive failure is extended to include tensile failure synonymous with tension and compression asymmetry in concrete. The modified MVIB model is applied to a variety of problems, and the effect of inclusion of both tensile and compressive failure is thoroughly assessed. Through the example of two notches in a square plate subjected to biaxial loading, a systematic study of damage evolution vis‐à‐vis biaxial loading ratio is presented. Capture of crack closure and formation of crack retarding protective shield are unique outcomes of the present work.
Love of life and its association with well‐being in Iranian psychiatric outpatients
Authors: Dadfar Mahboubeh , Abdel‐Khalek Ahmed M. , Lester David 
Published: August 2020

AbstractAimThe aims of this study were as follows: (a) to investigate the psychometric properties of the Love of Life Scale (LLS); (b) to explore sex differences in LLS scores; (c) to explore LLS correlations with spiritual health and psychological well‐being; and (d) to compare the mean LLS score with previous studies.DesignA cross‐sectional study.MethodsA sample of 191 Iranian psychiatric outpatients was recruited from clinics at the School of Behavioral Sciences and Mental Health (Tehran Institute of Psychiatry), which is affiliated with the Iran University of Medical Sciences. They responded to the Farsi versions of the LLS, the Spiritual Well‐Being Scale (SWS) and the World Health Organization‐five Well‐Being Index (WHO‐5).ResultsCronbach alpha for the LLS was 0.95, and a principal component analysis (PCA) of the LLS items extracted one component labelled "Love of life." The sex difference in LLS scores was not significant. All the correlations between the scales were statistically significant and positive. Patients who had high scores for their love of life had better spiritual health and psychological well‐being.DiscussionThe present sample obtained a lower mean LLS score than college students from eight countries except one. Further research should explore predictors of the love of life.
Caring for home‐dwelling parents with dementia: A qualitative study of adult‐child caregivers' motivation
Authors: Dombestein Heidi , Norheim Anne , Aase Karina 
Published: August 2020

AbstractAimTo explore adult children's motivation in caregiving for their home‐dwelling parents with dementia.DesignQualitative design with a phenomenological approach.MethodsSemi‐structured individual interviews with 21 adult sons and daughters who were caregivers for a parent with dementia. Data were analysed using systematic text condensation.ResultsInspired by self‐determination theory, three categories were identified in the empirical data representing the main motivational drivers for adult‐child caregivers: relatedness (to the parent with dementia, the parent's spouse, other persons), competence (in handling dementia, in the parent's need) and autonomy (freedom of choice, innate values and tasks). Caregivers report relatedness as their key motivational driver.These results imply that nurses and other health professionals should value the importance of relatedness when interacting with dementia caregivers and establish belonging support structures. Further research should generate more knowledge of the positive motivational drivers, including interventions to improve relatedness, competence and autonomy.
Integrated genetic and epigenetic analysis of cancer‐related genes in non‐ampullary duodenal adenomas and intramucosal adenocarcinomas
Authors: Ota Ryosuke , Sawada Takeshi , Tsuyama Sho , Sasaki Yasushi , Suzuki Hiromu , Kaizaki Yasuharu , Hasatani Kenkei , Yamamoto Eiichiro , Nakanishi Hiroyoshi , Inagaki Satoko , Tsuji Shigetsugu , Yoshida Naohiro , Doyama Hisashi , Minato Hiroshi , Nakamura Keishi , Kasashima Satomi , Kubota Eiji , Kataoka Hiromi , Tokino Takashi , Yao Takashi , Minamoto Toshinari 
Published: August 2020

AbstractThe molecular and clinical characteristics of non‐ampullary duodenal adenomas and intramucosal adenocarcinomas are not fully understood because they are rare. To clarify these characteristics, we performed genetic and epigenetic analysis of cancer‐related genes in these lesions. One hundred and seven non‐ampullary duodenal adenomas and intramucosal adenocarcinomas, including 100 small intestinal‐type tumors (90 adenomas and 10 intramucosal adenocarcinomas) and 7 gastric‐type tumors (2 pyloric gland adenomas and 5 intramucosal adenocarcinomas), were investigated. Using bisulfite pyrosequencing, we assessed the methylation status of CpG island methylator phenotype (CIMP) markers and MLH1. Then using next‐generation sequencing, we performed targeted exome sequence analysis within 75 cancer‐related genes in 102 lesions. There were significant differences in the clinicopathological and molecular variables between small intestinal‐ and gastric‐type tumors, which suggests the presence of at least two separate carcinogenic pathways in non‐ampullary duodenal adenocarcinomas. The prevalence of CIMP‐positive lesions was higher in intramucosal adenocarcinomas than in adenomas. Thus, concurrent hypermethylation of multiple CpG islands is likely associated with development of non‐ampullary duodenal intramucosal adenocarcinomas. Mutation analysis showed that APC was the most frequently mutated gene in these lesions (56/102; 55%), followed by KRAS (13/102; 13%), LRP1B (10/102; 10%), GNAS (8/102; 8%), ERBB3 (7/102; 7%), and RNF43 (6/102; 6%). Additionally, the high prevalence of diffuse or focal nuclear β‐catenin accumulation (87/102; 85%) as well as mutations of WNT pathway components (60/102; 59%) indicates the importance of WNT signaling to the initiation of duodenal adenomas. The higher than previously reported frequency of APC gene mutations in small bowel adenocarcinomas as well as the difference in the APC mutation distributions between small intestinal‐type adenomas and intramucosal adenocarcinomas may indicate that the adenoma–carcinoma sequence has only limited involvement in duodenal carcinogenesis. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.
CAR T‐cell therapy‐related neurotoxicity in paediatric acute lymphocytic leukaemia
Authors: Tan Ai Peng 
Published: August 2020

AbstractBackgroundThe advent of chimeric antigen receptor (CAR) T‐cell therapy has created a paradigm shift in the management of patients with refractory B‐cell acute lymphocytic leukaemia (ALL). The aim of this study is to correlate imaging findings of CAR T‐cell therapy related neurotoxicity with clinical course and eventual clinical outcome, with the hope that it will bring us a step closer to the identification of potential imaging biomarkers that may allow more accurate prognostication and risk stratification of patients.ProcedureOur imaging database was queried from January 2018 to April 2020 to identify paediatric patients who fulfil the following criteria: (a) diagnosed with ALL, (b) underwent CAR T‐cell therapy, and (c) had magnetic resonance imaging (MRI) brain studies performed before and after CAR T‐cell therapy. A total of seven patients were included and all MRI studies were analysed by a paediatric neuroradiologist for the presence of acute neuroimaging findings post CAR T‐cell infusion. Acute neuroimaging findings are defined as new imaging findings detected within 28 days of CAR T‐cell infusion.ResultsThree out of four patients with acute neuroimaging findings had sustained complete remission for more than 6 months, while all three patients without acute neuroimaging findings had positive minimal residual disease (MRD) within 1 month. Both patients with acute diffuse leptomeningeal enhancement showed clinical improvement within 1‐2 days.ConclusionsAcute neuroimaging findings may be a potential imaging biomarker for peak neurotoxicity and treatment response, and it is not necessarily associated with poor outcome, as previously reported.
Tuberculosis drug safety and pharmacovigilance in health system of Kosova: A cross‐sectional analysis
Authors: Krasniqi Shaip , Neziri Burim , Jakupi Arianit , Shurdhaj Ismajl , Daci Armond , Jupolli‐Krasniqi Nora , Pira Mimoza 
Published: August 2020

AbstractBackgroundTuberculosis (TB) remains a significant worldwide social and life‐threatening epidemiological problem. Because this disease requires multiple drug treatment and prolonged therapy for several months, followed by a high probability of adverse effects (AEs), we assessed AE monitoring for anti‐TB drugs in the Health Care System of Kosova.MethodsThis survey was a cross‐sectional analysis performed at the primary, secondary and tertiary health care levels in Kosova. We included 930 registered tuberculosis patients within three levels of this health system in our study. Furthermore, we interviewed 62 physicians and 71 nurses at TB health facilities. Data were collected from official TB registers and personal contact with patients for 12 months.ResultsThe representative age group was 19 to 29 years (30.49%), followed by a group of patients aged >60 years (23.23%). Among 930 patients treated with TB drugs, the total incidence of adverse AEs was 29.03%. Female TB patients had a higher rate of AEs than did male patients (33.56% vs 28.84%, respectively). The highest incidence of registered AEs was recorded in the gastrointestinal system (270, 80.83%), followed by the central nervous system (CNS, 7.50%) and was lower in other organ systems. The reporting of anti‐TB drug effects by medical staff (TB medical doctor and TB medical nurse) at different levels of TB medical settings occurred among 62.90% of medical doctors and 81.69% of nurses. Only 53.23% of medical doctors and 46.48% of nurses completed pharmacovigilance training.ConclusionThe pharmacovigilance approach in Health System of Kosova is not comprehensible and not systematic. The relatively low incidence of AEs among TB patients is due under reporting of these by medical staff. The knowledge, attitudes, and adherence of medical staff reveal low awareness for pharmacovigilance activities, and this concern should be addressed to reinforce this important issue for the safe treatment of TB patients.
Effect of ammonium polyphosphate and acrylic acid onNaCltreated electrospunPLAmicrofiber mat
Authors: Yoon Chang Ki , Ko Se Jun , Jeon Ji Ho , Lee Woo Il 
Published: August 2020

AbstractIn this study, insulation material was developed using polylactic acid (PLA), which is one of the most widely‐used biodegradable polymers. The PLA was fabricated into a fiber mat shape using the electrospinning method, and NaCl salt was added to achieve thinner fiber diameter. This fiber‐based mat showed lower thermal conductivity than PLA blocks but had poor tensile strength and heat stability. To improve these mechanical and thermal properties, ammonium polyphosphate (APP) and acrylic acid (AA) were added; AA was used to better bond the APP with the polymer matrix. The APP/AA mixed PLA fiber mat showed improved performance overall; with the addition of these materials, the thermal conductivity was about 35 mW/mK, which was slightly lower than before, the tensile stress improved about two times. Thermal stability was also augmented as the increase in the weight percentage of the sample residue after the thermogravimetric analysis indicated.
Towards a tiered test strategy for plant protection products to address mixture toxicity by alternative approaches in human health assessment
Authors: Bloch Denise , Marx‐Stoelting Philip , Martin Sabine 
Published: August 2020

AbstractPlant protection products (PPPs) consist of pesticide active substances and co‐formulants. Generally, active substance effects are assumed to dominate in PPP toxicity. Nevertheless, co‐formulants may well affect the toxicity of PPPs via toxicodynamic and toxicokinetic interaction. To account for potential mixture effects and improve PPP data requirements for application in risk assessment, a tiered test strategy is proposed. The strategy is based on a comparison of PPP and active substance toxicity, which enables the prioritisation of PPPs for further testing, adaptation of the toxicological threshold value or removal of toxic co‐formulants from the PPP. Moreover, it focuses on the integrative assessment of existing information and newly generated data using alternative test methods. The proposed strategy will improve PPP toxicological assessment by accounting for mixture toxicity, providing a set of regulatory options for risk assessment and the necessary data for hazard assessment. The predictivity of alternative methods for PPPs will improve by evaluation of their reliability and uncertainty. © 2020 The Authors. Pest Management Science published by JohnWiley & Sons Ltd on behalf of Society of Chemical Industry.
Structural and energetic properties of RMX3‐NH3 complexes
Authors: Phillips James A. , Ley Anna R. , Treacy Patrick W. , Wahl Benjamin M. , Zehner Brittany C. , Donald Kelling J. , Gillespie Samuel 
Published: August 2020

AbstractWe have explored the structural and energetic properties of a series of RMX3‐NH3 (M=Si, Ge; X=F, Cl; R=CH3, C6H5) complexes using density functional theory and low‐temperature infrared spectroscopy. In the minimum‐energy structures, the NH3 binds axially to the metal, opposite a halogen, while the organic group resides in an equatorial site. Remarkably, the primary mode of interaction in several of these systems seems to be hydrogen bonding (C‐H‐‐N) rather than a tetrel (N→M) interaction. This is particularly clear for the RMCl3‐NH3 complexes, and analyses of the charge distributions of the acid fragment corroborate this assessment. We also identified a set of metastable geometries in which the ammonia binds opposite the organic substituent in an axial orientation. Acid fragment charge analyses also provide a clear rationale as to why these configurations are less stable than the minimum‐energy structures. Matrix‐isolation infrared spectra provide clear evidence for the occurrence of the minimum‐energy form of CH3SiCl3–NH3, but analogous results for CH3GeCl3–NH3 are less conclusive. Computational scans of the M‐N distance potentials for CH3SiCl3–NH3 and CH3GeCl3–NH3, both in the gas phase and bulk dielectric media, reveal a great deal of anharmonicity and a propensity for condensed‐phase structural change.
Fractionation of stable oxygen and clumped isotopes during acid digestion of calcite in the presence of an external direct current electric field
Authors: Banerjee Sanchita , Ghosh Prosenjit , Pramanik Chirantan , Reddy B Subba 
Published: August 2020

RationalePhosphoric acid digestion of carbonate generates CO2 for stable oxygen and clumped isotope analysis using a gas source isotope ratio mass spectrometer. The initial step of the digestion reaction is protonation of calcite while the product CO2 equilibrates with the system allowing further exchange of isotopes to various extents depending on the nature of the acid digestion methods. An external electric field is introduced in the break seal method to demonstrate the role of the protonation reaction and the post‐digestion isotopic exchanges in the final isotopic composition of product CO2.MethodsAn acid digestion experiment following the break seal method was conducted at a constant temperature of 25 ± 0.5°C in the presence of a uniform external electric field of 0.5 kV/cm within a specially fabricated corona chamber. Replicate samples of a calcite powder of a reference standard (MAR J1) were reacted for 24 h in the presence and absence of an external electric field for varying exposure times (6 to 24 h) and the evolved CO2 was analyzed using a dual‐inlet MAT 253 isotope ratio mass spectrometer.ResultsThe CO2 yield from the phosphoric acid digestion of MAR J1 calcite was 20% lower during the reaction in presence of an electric field for an exposure time of 24 h, while the corresponding δ18O value and Δ47 composition were 0.3‰ and 0.1‰ less, respectively, than without any electric field.ConclusionsWe documented the systematic control of oxygen and clumped isotope ratios in CO2 evolved from the carbonate acid digestion reaction with varying exposure time to the external electric field. We provide a new method involving use of an external electric field to manipulate the isotopic fractionation during the acid digestion reaction of calcite. The experimental observation enabled theoretical understanding of the reaction mechanism of carbonate with phosphoric acid which will be useful for stable and clumped isotope studies.
Charting a path between firm‐specific incentives and human capital‐based competitive advantage
Authors: Kryscynski David , Coff Russ , Campbell Benjamin 
Published: August 2020

AbstractResearch SummaryScholars have long recognized the theoretical and practical implications of firm‐specific human capital. However, we highlight that firm‐specific incentives (i.e., worker incentives that provide more utility to workers in the focal firm than similar incentives available at other employers) provide an important pathway to competitive advantages that has not been comprehensively examined in the extant organizational research. We address this gap by (a) defining firm‐specific incentives and showing why they are different from incentive conceptualizations and typologies in the extant literature, (b) articulating potential origins of firm‐specific incentives, and (c) formally proposing the conditions under which firm‐specific incentives facilitate human capital‐based competitive advantages. In so doing, we develop a cohesive theoretical framework of incentive‐based competitive advantage that integrates across multiple literatures.Managerial SummaryJust as companies differentiate their products by creating unique value for customers, they also create unique value for their employees. Some companies do this by offering employee incentives, perks, and benefits that are highly unique to the company and difficult for other companies to imitate. These unique incentives, perks, and benefits can help these companies to attract, motivate, and retain top talent at a financial discount and, accordingly, can help these companies realize competitive advantages over their rivals.