bluuebunny/crossref_metadata_2025_split huggingface dataset:
Computational identification of variables in neonatal vocalizations predictive for postpubertal social behaviors in a mouse model of 16p11.2 deletion
Authors: Nakamura Mitsuteru , Ye Kenny , e Silva Mariel Barbachan , Yamauchi Takahira , Hoeppner Daniel J. , Fayyazuddin Amir , Kang Gina , Yuda Emi A. , Nagashima Masako , Enomoto Shingo , Hiramoto Takeshi , Sharp Richard , Kaneko Itaru , Tajinda Katsunori , Adachi Megumi , Mihara Takuma , Tokuno Shinichi , Geyer Mark A. , Broin Pilib Ó , Matsumoto Mitsuyuki , Hiroi Noboru 
Published: April 2021

AbstractAutism spectrum disorder (ASD) is often signaled by atypical cries during infancy. Copy number variants (CNVs) provide genetically identifiable cases of ASD, but how early atypical cries predict a later onset of ASD among CNV carriers is not understood in humans. Genetic mouse models of CNVs have provided a reliable tool to experimentally isolate the impact of CNVs and identify early predictors for later abnormalities in behaviors relevant to ASD. However, many technical issues have confounded the phenotypic characterization of such mouse models, including systematically biased genetic backgrounds and weak or absent behavioral phenotypes. To address these issues, we developed a coisogenic mouse model of human proximal 16p11.2 hemizygous deletion and applied computational approaches to identify hidden variables within neonatal vocalizations that have predictive power for postpubertal dimensions relevant to ASD. After variables of neonatal vocalizations were selected by least absolute shrinkage and selection operator (Lasso), random forest, and Markov model, regression models were constructed to predict postpubertal dimensions relevant to ASD. While the average scores of many standard behavioral assays designed to model dimensions did not differentiate a model of 16p11.2 hemizygous deletion and wild-type littermates, specific call types and call sequences of neonatal vocalizations predicted individual variability of postpubertal reciprocal social interaction and olfactory responses to a social cue in a genotype-specific manner. Deep-phenotyping and computational analyses identified hidden variables within neonatal social communication that are predictive of postpubertal behaviors.
Molecular regulation of lung maturation in near-term fetal sheep by maternal daily vitamin C treatment in late gestation
Authors: McGillick Erin V. , Orgeig Sandra , Allison Beth J. , Brain Kirsty L. , Niu Youguo , Itani Nozomi , Skeffington Katie L. , Kane Andrew D. , Herrera Emilio A. , Morrison Janna L. , Giussani Dino A. 
Published: April 2021

AbstractBackgroundIn the fetus, the appropriate balance of prooxidants and antioxidants is essential to negate the detrimental effects of oxidative stress on lung maturation. Antioxidants improve respiratory function in postnatal life and adulthood. However, the outcomes and biological mechanisms of antioxidant action in the fetal lung are unknown.MethodsWe investigated the effect of maternal daily vitamin C treatment (200 mg/kg, intravenously) for a month in late gestation (105–138 days gestation, term ~145 days) on molecular regulation of fetal lung maturation in sheep. Expression of genes and proteins regulating lung development was quantified in fetal lung tissue. The number of surfactant-producing cells was determined by immunohistochemistry.ResultsMaternal vitamin C treatment increased fetal lung gene expression of the antioxidant enzymeSOD-1, hypoxia signaling genes (HIF-2α,HIF-3α,ADM, andEGLN-3), genes regulating sodium movement (SCNN1-A,SCNN1-B,ATP1-A1, andATP1-B1), surfactant maturation (SFTP-BandABCA3), and airway remodeling (ELN). There was no effect of maternal vitamin C treatment on the expression of protein markers evaluated or on the number of surfactant protein-producing cells in fetal lung tissue.ConclusionsMaternal vitamin C treatment in the last third of pregnancy in sheep acts at the molecular level to increase the expression of genes that are important for fetal lung maturation in a healthy pregnancy.ImpactMaternal daily vitamin C treatment for a month in late gestation in sheep increases the expression of gene-regulating pathways that are essential for normal fetal lung development.Following late gestation vitamin C exposure in a healthy pregnancy, an increase in lung gene but not protein expression may act as a mechanism to aid in the preparation for exposure to the air-breathing environment after birth.In the future, the availability/development of compounds with greater antioxidant properties than vitamin C or more specific targets at the site of oxidative stress in vivo may translate clinically to improve respiratory outcomes in complicated pregnancies at birth.
Race reporting and diversity in US food and drug administration (FDA) registration trials for prostate cancer; 2006–2020
Authors: Lythgoe M. P. , Krell J. , Savage P. , Prasad V. 
Published: April 2021

Abstract
Background
There is significant racial disparity in prostate cancer (PCa) in terms of incidence, treatment, and outcomes. Racial diversity and compliance with FDA race reporting guidelines in PCa drug registration trials are unknown. We analyzed racial diversity and race reporting in drug licensing trials for PCa.

Methods
New drug authorizations for PCa from 2006 to 2020 were identified. The corresponding licensing trial publications were analyzed to check compliance with current FDA recommendations for race reporting. If race was unreported, the clinical trial report was analyzed to determine participant recruitment by race and lead the recruiting country.

Results
During the study period, 17 new drug registrations for the management of PCa involving ten unique drugs were identified. In total, 18,455 participants were included in FDA registration trials, of which 76.3% were white or Caucasian, 7.9% Asian, 2.9% Black or African American, 0.5% American Indian or Alaskan Native, 0.1% Native Hawaiian or other Pacific Islander, 1.8% other or multiple races and 10.5% unknown. 53% of trials reported race in the licensing publication, however of this only 55% met current FDA recommendations. When the race was unreported in the licensing publication, 88% of studies had further information in the clinical study report.

Conclusion
We found a significant under-representation of non-white participants in FDA drug registration trials for PCa. Race reporting in licensing publication is inconsistent and both FDA and International Committee of Medical Journal Editors guidelines are not being universally followed. Given the disproportionality of the disease burden of PCa, recruitment of Black and other minority participants to trials should be a research priority.
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
Authors: Whitworth James , Casey Ruth T. , Smith Philip S. , Giger Olivier , Martin Jose Ezequiel , Clark Graeme , Cook Jaqueline , Fernando Marlee S. , Taniere Phillipe ,   NIHR BioResource, Maher Eamonn R. 
Published: April 2021

AbstractGastrointestinal stromal tumour (GIST) is a mesenchymal neoplasm arising in the gastrointestinal tract. A rare subset of GISTs are classified as wild-type GIST (wtGIST) and these are frequently associated with germline variants that affect the function of cancer predisposition genes such as the succinate dehydrogenase subunit genes (SDHA, SDHB, SDHC, SDHD) or NF1. However, despite this high heritability, familial clustering of wtGIST is extremely rare. Here, we report a mother–son diad who developed wtGIST at age 66 and 34 years, respectively. Comprehensive genetic testing revealed germline truncating variants in both SDHA (c.1534C>T (p.Arg512*)) and PALB2 (c.3113G>A (p.Trp1038*)) in both affected individuals. The mother also developed breast ductal carcinoma in-situ at age 70 years. Immunohistochemistry and molecular analysis of the wtGISTs revealed loss of SDHB expression and loss of the wild-type SDHA allele in tumour material. No allele loss was detected at PALB2 suggesting that wtGIST tumourigenesis was principally driven by succinate dehydrogenase deficiency. However, we speculate that the presence of multilocus inherited neoplasia alleles syndrome (MINAS) in this family might have contributed to the highly unusual occurrence of familial wtGIST. Systematic reporting of tumour risks and phenotypes in individuals with MINAS will facilitate the clinical interpretation of the significance of this diagnosis, which is becoming more frequent as strategies for genetic testing for hereditary cancer becomes more comprehensive.
Obesity-related proteins score as a potential marker of breast cancer risk
Authors: Diao Sha , Wu Xueyao , Zhang Xiaofan , Hao Yu , Xu Bin , Li Xu , Tian Lulu , Miao Yunqi , Zhao Xunying , Ye Feng , Li Jiayuan 
Published: April 2021

AbstractThere is strong evidence to suggest that obesity-related proteins play a key role in pathways that are related to breast cancer. In this study, we aimed to establish a robust obesity-related protein score (ORPS) that could be used to assess breast cancer risk. Based on evidence from high-quality systematic reviews and population studies, we selected nine such proteins that are stable in vitro, and measured their circulating concentrations by ELISA in a case–control study conducted in Chengdu, Sichuan, China, with 279 breast cancer cases and 260 healthy controls. Two obesity-related protein scores (ORPS) were calculated using a three-step method, with linear-weighted summation, and the one with a larger area under the curve was chosen for further evaluation. As a result, ORPS (PS5preor PS4post) was positively correlated with breast cancer risk (premenopausal: OR≤63 VS >633.696, 95% CI 2.025–6.747; postmenopausal: OR≤38 VS >387.100, 95% CI 3.134–16.084), and represented a better risk predictor among obese women compared to non-obese in pre- and postmenopausal women. Among different molecular subtypes, ORPS was positively correlated with Luminal breast cancer, with additionally positive association with triple-negative breast cancer in premenopausal women. The ORPS might be a potential marker of breast cancer risk among Chinese women.
Transgenerational effects in DNA methylation, genotoxicity and reproductive phenotype by chronic arsenic exposure
Authors: Nava-Rivera Lydia Enith , Betancourt-Martínez Nadia Denys , Lozoya-Martínez Rodrigo , Carranza-Rosales Pilar , Guzmán-Delgado Nancy Elena , Carranza-Torres Irma Edith , Delgado-Aguirre Hector , Zambrano-Ortíz José Omar , Morán-Martínez Javier 
Published: April 2021

AbstractAn emerging concern is the influences of early life exposure to environmental toxicants on offspring characteristics in later life. Since recent evidence suggests a transgenerational transference of aberrant phenotypes from exposed-parents to non-exposed offspring related to adult-onset diseases including reproductive phenotype. The transgenerational potential of arsenic a well know genotoxic and epigenetic modifier agent has not been assessed in mammals until now. In this experimental study, we evaluated the transgenerational effects of arsenic in a rat model with chronic exposure to arsenic. Rats chronically exposed to arsenic in drinking water (1 mg As2O3/L) (F0) were mated to produce the arsenic lineage (F1, F2, and F3). The arsenic toxic effects on were evaluated over the four generations by analyzing the DNA methylation percentage, genotoxicity in WBC and physical and reproductive parameters, including sperm quality parameters and histopathological evaluation of the gonads. Chronic exposure to arsenic caused genotoxic damage (F0–F3) different methylation patterns, alterations in physical and reproductive parameters, aberrant morphology in the ovaries (F0 and F1) and testicles (F1–F3), and a decrease in the quality of sperm (F0–F3, except F2). Parental chronic arsenic exposure causes transgenerational genotoxicity and changes in global DNA methylation which might be associated with reproductive defects in rats. Combined with recent studies reveal that disturbances in the early life of an individual can affect the health of later generations.
Fuzzy clustering and distributed model for streamflow estimation in ungauged watersheds
Authors: Mosavi Amirhosein , Golshan Mohammad , Choubin Bahram , Ziegler Alan D. , Sigaroodi Shahram Khalighi , Zhang Fan , Dineva Adrienn A. 
Published: April 2021

AbstractThis paper proposes a regionalization method for streamflow prediction in ungauged watersheds in the 7461 km2 area above the Gharehsoo Hydrometry Station in the Ardabil Province, in the north of Iran. First, the Fuzzy c-means clustering method (FCM) was used to divide 46 gauged (19) and ungauged (27) watersheds into homogenous groups based on a variety of topographical and climatic factors. After identifying the homogenous watersheds, the Soil and Water Assessment Tool (SWAT) was calibrated and validated using data from the gauged watersheds in each group. The calibrated parameters were then tested in another gauged watershed that we considered as a pseudo ungauged watershed in each group. Values of R-Squared and Nash–Sutcliffe efficiency (NSE) were both ≥ 0.70 during the calibration and validation phases; and ≥ 0.80 and ≥ 0.74, respectively, during the testing in the pseudo ungauged watersheds. Based on these metrics, the validated regional models demonstrated a satisfactory result for predicting streamflow in the ungauged watersheds within each group. These models are important for managing stream quantity and quality in the intensive agriculture study area.
Simulation study on the indirect effect of sulfate on the summer climate over the eastern China monsoon region
Authors: Wang Dongdong , Zhu Bin , Wang Hongbo , Sun Li 
Published: April 2021

AbstractIn this study, we designed a sensitivity test using the half number concentration of sulfate in the nucleation calculation process to study the aerosol-cloud interaction (ACI) of sulfate on clouds, precipitation, and monsoon intensity in the summer over the eastern China monsoon region (ECMR) with the National Center for Atmospheric Research Community Atmosphere Model version 5. Numerical experiments show that the ACI of sulfate led to an approximately 30% and 34% increase in the cloud condensation nuclei and cloud droplet number concentrations, respectively. Cloud droplet effective radius below 850 hPa decreased by approximately 4% in the southern ECMR, while the total liquid water path increased by 11%. The change in the indirect radiative forcing due to sulfate at the top of the atmosphere in the ECMR during summer was − 3.74 W·m−2. The decreased radiative forcing caused a surface cooling of 0.32 K and atmospheric cooling of approximately 0.3 K, as well as a 0.17 hPa increase in sea level pressure. These changes decreased the thermal difference between the land and sea and the gradient of the sea-land pressure, leading to a weakening in the East Asian summer monsoon (EASM) and a decrease in the total precipitation rate in the southern ECMR. The cloud lifetime effect has a relatively weaker contribution to summer precipitation, which is dominated by convection. The results show that the ACI of sulfate was one possible reason for the weakening of the EASM in the late 1970s.
Use of electromagnetic stimulation on an Enterococcus faecalis biofilm on root canal treated teeth in vitro
Authors: Panariello Beatriz H. D. , Kindler Justin K. , Spolnik Kenneth J. , Ehrlich Ygal , Eckert George J. , Duarte Simone 
Published: April 2021

AbstractRoot canal disinfection is of utmost importance in the success of the treatment, thus, a novel method for achieving root canal disinfection by electromagnetic waves, creating a synergistic reaction via electric and thermal energy, was created. To study electromagnetic stimulation (EMS) for the disinfection of root canal in vitro, single rooted teeth were instrumented with a 45.05 Wave One Gold reciprocating file. Specimens were sterilized and inoculated with Enterococcus faecalis ATCC 29,212, which grew for 15 days to form an established biofilm. Samples were treated with 6% sodium hypochlorite (NaOCl), 1.5% NaOCl 1.5% NaOCl with EMS, 0.9% saline with EMS or 0.9% saline. After treatments, the colony forming units (CFU) was determined. Data was analyzed by Wilcoxon Rank Sums Test (α = 0.05). One sample per group was scored and split for confocal laser scanning microscopy imaging. There was a significant effect with the use of NaOCl with or without EMS versus 0.9% saline with or without EMS (p = 0.012 and 0.003, respectively). CFUs were lower when using 0.9% saline with EMS versus 0.9% saline alone (p = 0.002). Confocal imaging confirmed CFU findings. EMS with saline has an antibiofilm effect against E. faecalis and can potentially be applied for endodontic disinfection.
Ambulatory cataract surgery centre without perioperative anaesthesia care: a prospective cohort study
Authors: Duroi Quentin , Baudet Jean-Marie , Bigoteau Maxime , Slim Malek , Pichard Tiphanie , Pisella Pierre-Jean , Khanna Raoul Kanav 
Published: April 2021

AbstractThis study aims to evaluate the safety and patient satisfaction of a fast-track procedure for cataract surgery under topical anaesthesia without perioperative anaesthesia care. This is a prospective single-centre study including all cataract procedures in the Centre Ambulatoire de la Chirurgie de la Cataracte at the Hospital of Bourges between May and August 2018. Procedures were performed under topical anaesthesia without the presence of a nurse anaesthesiologist or anaesthesiologist, the patient had not fasted, and no peripheral venous line was placed. Only heart rate and oxygen saturation were monitored intraoperatively with pulse oximetry. Incidence and nature of intraoperative adverse events and surgical complications were recorded. Patient satisfaction was assessed using the Iowa Satisfaction with Anaesthesia Scale (ISAS). In total, 651 cataract surgeries were performed among which 614 (94.3%) were uneventful. Thirty (4.6%) intraoperative adverse events and 8 (1.2%) surgical complications were recorded. All surgeries were successfully completed. No medical emergency team intervention or hospital admittance was encountered. The mean ISAS score was 5.7/6, indicating high patient satisfaction. Cataract surgery in an ambulatory cataract surgery centre without perioperative anaesthesia care is a safe procedure with high patient satisfaction for screened patients. Anaesthesia ressources are scarce and may be more beneficial to more complex ophthalmic or non-ophthalmic surgeries.
U-Sleep: resilient high-frequency sleep staging
Authors: Perslev Mathias , Darkner Sune , Kempfner Lykke , Nikolic Miki , Jennum Poul Jørgen , Igel Christian 
Published: April 2021

AbstractSleep disorders affect a large portion of the global population and are strong predictors of morbidity and all-cause mortality. Sleep staging segments a period of sleep into a sequence of phases providing the basis for most clinical decisions in sleep medicine. Manual sleep staging is difficult and time-consuming as experts must evaluate hours of polysomnography (PSG) recordings with electroencephalography (EEG) and electrooculography (EOG) data for each patient. Here, we present U-Sleep, a publicly available, ready-to-use deep-learning-based system for automated sleep staging (sleep.ai.ku.dk). U-Sleep is a fully convolutional neural network, which was trained and evaluated on PSG recordings from 15,660 participants of 16 clinical studies. It provides accurate segmentations across a wide range of patient cohorts and PSG protocols not considered when building the system. U-Sleep works for arbitrary combinations of typical EEG and EOG channels, and its special deep learning architecture can label sleep stages at shorter intervals than the typical 30 s periods used during training. We show that these labels can provide additional diagnostic information and lead to new ways of analyzing sleep. U-Sleep performs on par with state-of-the-art automatic sleep staging systems on multiple clinical datasets, even if the other systems were built specifically for the particular data. A comparison with consensus-scores from a previously unseen clinic shows that U-Sleep performs as accurately as the best of the human experts. U-Sleep can support the sleep staging workflow of medical experts, which decreases healthcare costs, and can provide highly accurate segmentations when human expertize is lacking.
Hypervalent iodine(iii) induced oxidative olefination of benzylamines using Wittig reagents
Authors: Ramavath Vijayalakshmi , Rupanawar Bapurao D. , More Satish G. , Bansode Ajay H. , Suryavanshi Gurunath 
Published: April 2021

We have developed hypervalent iodine mediated oxidative olefination of 1° and 2° amines using 2C-Wittig reagents for the synthesis of α,β-unsaturated esters.
Modified branch‐and‐bound algorithm for unravelling optimal PMU placement problem for power grid observability: A comparative analysis
Authors: Babu Rohit , Raj Saurav , Dey Bishwajit , Bhattacharyya Biplab 
Published: April 2021

AbstractSafe operation of the power grid requires a complete and robust control network to ensure full observability. However, redundancy measurements can create problems in expense, management, and control. The optimal phasor measurement unit (PMU) positioning problem (OPPP) is proposed to limit the number of PMUs deployed in the power grid and ensure the whole grid's observability in the meantime. A modified branch‐and‐bound algorithm (MBBA) to unravel the OPPP is presented. Original BBA, which uses a single search order to create a binary tree, gives only one solution to the OPPP, although more than one optimal solution exists. The proposed MBBA method consists of two different stages: the vertexes in the search tree are investigated by depth‐first search (DFS) in stage 1, and the search route continues as the breadth‐first search. In stage 1, the LP relaxing problems are solved by dual simplex, and in stage 2, the basic viable solution from stage 1 is used to configure the primary simplex until the optimum solution is found. OPPP is formulated as a binary decision variable MBBA model, minimizing linear objective function subject to linear matrix observability constraints. The MBBA model is unravelled using a linear integer‐based external approximation scheme. IEEE test systems are used to check the feasibility of the proposed approach. Matlab software performs simulation based on a number of graph theory‐based methods such as DFS, graph‐theoretical method, simulated annealing, and recursive N‐algorithms. These algorithms are compared to the algorithmic perspective of the proposed MBBA method. IEEE test network results confirm the validity of the proposed methodology.
A comparative analysis between price‐penalty factor method and fractional programming method for combined economic emission dispatch problem using novel hybrid CSA‐JAYA algorithm
Authors: Dey Bishwajit , Basak Sourav , Bhattacharyya Biplab 
Published: April 2021

AbstractEconomic dispatch of power is no more a sole concern for utilities. Instead, the utilities focus on reducing toxic gases emitted to the atmosphere due to the maximum utilisation of conventional fossil‐fuelled generators to meet the surging demand for electricity. This can be carried out by involving renewable energy sources (RES) to generate clean power compensating the depletion in the availability of fossil fuels. This article performs combined economic emission disfpatch (CEED) on four dynamic systems with and without the involvement of RES. Two methods for solving CEED, namely the price‐penalty factor (ppf) method and the fractional programming (FP) method, are used to perform CEED for all the four test systems, and a comparative analysis between them is made based on the least emission of harmful and toxic gases into the atmosphere. A novel hybrid (CSA‐JAYA) algorithm is used as the optimisation tool for the study. Numerical results manifest that the FP method of solving CEED is economic and emits less toxic gases to the atmosphere than the ppf method. The proposed hybrid CSA‐JAYA outperformed a long list of algorithms from recent literature in consistently providing better and superior quality solutions.