bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
Authors: MozafaryBazargany MohammadHossein , Esmaeili Shiva , Hesami Mahshid , Houshmand Golnaz , Mahdavi Mohamad , Maleki Majid , Kalayinia Samira 
Published: February 2024

AbstractAimsPolyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review.Methods and resultsWhole‐exome sequencing (WES) was utilized to detect genetic variations in a 7‐year‐old girl considered the proband. Sanger sequencing was performed to validate the variant in the patient and all the available family members, whether affected or unaffected. The variant's pathogenicity was assessed by conducting a cosegregation analysis within the family with in silico predictive software. WES showed that the proband's RBCK1 gene contained a missense likely pathogenic homozygous nucleotide variant, c.598_599insT: p.His200LeufsTer14 (NM_001323956.1), in exon 8. The computational analysis supported the variant's pathogenicity. The variant was identified in a heterozygous form among all the healthy members of the family. Variants with changes in N‐terminal part of the protein were more likely to manifest immunodeficiency and auto‐inflammation than those with C‐terminal protein modifications according to prior variations of RBCK1 reported in the literature.ConclusionsOur study offers novel findings indicating an RBCK1 variant in individuals of Iranian ancestry presenting with DCM leading to heart transplantation and myopathy without immunodeficiency or auto‐inflammation.
The development of a next‐generation sequencing panel targeting cannabinoid synthase genes to distinguish between marijuana and hemp
Authors: Cheng Ya‐Chih , Houston Rachel 
Published: February 2024

AbstractHemp and marijuana, both derived from Cannabis sativa L. (C. sativa), are subject to divergent legal regulations due to their different Δ9‐tetrahydrocannabinol (Δ9‐THC) contents. Cannabinoid synthase genes are considered the key enzymes that determine the chemical composition or chemotype of a particular cultivar. However, existing methods for crop type differentiation based on previous synthase gene theories have limitations in terms of precision and specificity, and a wider range of cannabis varieties must be considered when examining cannabis‐based genetic markers. A custom next‐generation sequencing (NGS) panel was developed targeting all synthase genes, including Δ9‐THC acid synthase, cannabidiolic acid synthase, and cannabichromenic acid synthase, as well as the pseudogenes across diverse C. sativa samples, spanning reference hemp and marijuana, commercial hemp derivatives, and seized marijuana extracts. Interpretation of NGS data revealed a relationship between genotypes and underlying chemotypes, with the principal component analysis indicating a clear distinction between hemp and marijuana clusters. This differentiation was attributed to variations in both synthase genes and pseudogene variants. Finally, this study proposes a genetic cannabis classification method using a differentiation flow chart with novel synthase markers. The flow chart successfully differentiated hemp from marijuana with a 1.3% error rate (n = 147).
Comparison of different open‐source Digital Elevation Models for landslide susceptibility mapping
Authors: Lu Dingyang , Tang Guoan , Yan Ge , Yu Fengyize , Lin Xiaofen 
Published: February 2024

AbstractIn this study, the application of open‐source digital elevation model (DEM) is explored for regional landslide susceptibility mapping (LSM), and the potential impact of different DEM choices on the mapping accuracy is also examined. With the advancements in remote sensing technology, an increasing number of global open‐source DEMs have been available, with improvement in the accuracy. However, the latest released data are rarely evaluated in LSM research. In this paper, DEM‐based factors, including elevation, aspect, slope, plan curvature and profile curvature, were generated from seven open‐source DEMs, including Advanced Spaceborne Thermal Emission and Reflection (ASTER) V2, ASTERV3, ALOS World 3D‐30 m (AW3D30), Copernicus DEM 30 m (COP) Forest and Buildings removed Copernicus DEM (FABDEM), NASADEM, and Shuttle Radar Topography Mission (SRTM). DEM‐based factors were coupled with the distance to road, distance to river, land use, lithology, rain and normalized difference vegetation index (NDVI). The significant difference between DEMs is determined by comparing the area proportion. Slope, plane curvature and profile curvature are found to have a maximum difference of 15%–20%. Then, K‐Nearest Neighbours (KNN) and Random Forest (RF) were used to predict landslide susceptibility with two sampling methods, namely, 70% for training and 30% for testing (S1); 67% for training and 33% for testing (S2). For KNN with S1, the prediction rate is range from 0.8299 to 0.8701, with a difference of 0.0402. The difference of prediction rate is decreased to 0.0207 for S2 and 0.0258 for RF. COP has the highest prediction rate of 0.8701, 0.9254 and 0.9461 for KNN with S1 and RF with S1 and S2, respectively. ASTERV2 is the worst with prediction rate of 0.8897 and 0.8996 for KNN with S2 and RF with S1, respectively. The research result provides valuable insights for the selection of open‐source DEMs in future LSM.
Neuroprotective effects of nuciferine on high‐fat diet‐induced cognitive dysfunction in obese mice: Role of insulin resistance, neuroinflammation, and oxidative stress
Authors: Zhu Xiangyang , Hao Rili , Lv Xiaqing , Su Jing , Li Dapeng , Zhang Chen 
Published: February 2024

AbstractHigh‐fat diets (HFDs) trigger oxidative stress, insulin resistance (IR), and inflammatory responses in the body, leading to cognitive dysfunction. This study aimed to elucidate the effects of nuciferine on HFD‐induced IR and cognitive impairment in the central nervous system of obese mice and further identify the possible underlying mechanisms. In behavioral experiments, nuciferine administration increased the total distance moved, the number of times mice entered the open arm, the duration of open dwell time, and the number of alternations while shortening the latency to escape. Nuciferine suppressed HFD‐induced synaptic structure damage, as evidenced by the increased expressions of neurotrophic factor BDNF and synaptic function proteins SYN, SNAP‐25, and PSD‐95. In addition, nuciferine effectively ameliorated HFD‐induced IR by IRS/PI3K/AKT pathway, alleviated HFD‐induced neurological damage through AMPK/SIRT1 pathway, and improved cognitive impairment via the Aβ‐tau‐neuroinflammation axis. Therefore, nuciferine could be a new food‐derived neuroprotective agent to counteract HFD‐induced damage.
The intestinal delivery systems of ferulic acid: Absorption, metabolism, influencing factors, and potential applications
Authors: Chen Yushan , Teng Wendi , Wang Jinpeng , Wang Ying , Zhang Yuemei , Cao Jinxuan 
Published: February 2024

AbstractFerulic acid (FA) is a hydroxycinnamic acid known for its strong antioxidant activity and potential benefits for intestinal health. However, its poor water solubility and instability limit its effectiveness. To address these issues, different ways have been explored to protect FA against degradation and further exert its potential benefits. This review discusses the absorption and metabolism of FA in the gut, as well as its potential impact on intestinal health. It also compares different intestinal delivery systems, such as nanoparticles, electrospun nanofibers, microcapsules, cross‐linked polymer gels, and Pickering emulsions, which can improve the solubility, stability, and bioavailability of FA in the gastrointestinal tract. This comprehensive review provides valuable insights for using FA in food, pharmaceutical, and nutraceuticals products.
Standardization of teff (Eragrostis teff) injera making process conditions for better physicochemical and sensory quality
Authors: Bikila Gizachew M. , Tola Yetenayet B. , Kuyu Chala G. 
Published: February 2024

AbstractInjera is a type of flatbread that is fermented, naturally leavened, and native to Ethiopia. However, injera quality can vary depending on the processing steps used, even if the same variety of teff is used. This research was conducted to optimize the prebaking processing and baking conditions to produce better quality teff injera suitable for industrial and export purposes. Four experiments were conducted to optimize the injera‐making process. The first two phases focused on optimizing the prebaking processing conditions (fermentation temperature and time, absit mixing ratio, absit cooking time, and secondary fermentation time). The best physicochemical qualities were obtained at a primary fermentation temperature of 25°C for 64 h, an 8% mixing ratio of absit with 10 min of cooking, and a secondary fermentation time of 4 h. In the third phase, baking temperature (195 ± 5, 215 ± 5, 235 ± 5, and 255 ± 5°C) and time (1, 2, and 3 min) were evaluated. The results showed that the best response variables were obtained at a temperature of 255 ± 5°C for 2 min or 235 ± 5°C for 3 min. Finally, the optimized conditions were validated on five different varieties [DZ‐Cr‐387, DZ‐Cr‐2124, white (T‐BT), white (T‐GK), and sergegna teff (T‐E)] of teff grain. The results indicated that the optimized conditions could produce better quality and consistent teff injera on a large commercial scale, which would suit both local and export markets.
The impact of international health worker migration and recruitment on health systems in source countries: Stakeholder perspectives from Colombia, Indonesia, and Jordan
Authors: Sax dos Santos Gomes Lila , Efendi Ferry , Putri Nuzulul Kusuma , Bolivar‐Vargas Mery , Saadeh Rami , Villarreal Pedro A. , Aye Thit Thit , De Allegri Manuela , Lohmann Julia 
Published: February 2024

AbstractIntroductionTo address domestic shortages, high‐income countries are increasingly recruiting health workers from low‐ and middle‐income countries. This practice is much debated. Proponents underline benefits of return migration and remittances. Critics point in particular to the risk ofbrain drain. Empirical evidence supporting either position is yet rare. This study contributes to filling this gap in knowledge by reporting high‐level stakeholders' perspectives on health system impacts of international migration in general, and active recruitment of health workers in specific, in Colombia, Indonesia, and Jordan.MethodWe used a multiple case study methodology, based on qualitative methods integrated with information available in the published literature.ResultsAll respondents decried a lack of robust and detailed data as a serious challenge in ascertaining their perspectives on impacts of health worker migration. Stakeholders described current emigration levels as not substantially aggravating existing health workforce availability challenges. This is due to the fact that all three countries are faced with health worker unemployment grounded in unwillingness to work in rural areas and/or overproduction of certain cadres. Respondents, however, pleaded against targeting very experienced and specialised individuals. While observing little harm of health worker migration at present, stakeholders also noted few benefits such asbrain gain, describing how various barriers to skill enhancement, return, and reintegration into the health system hamper in practice what may be possible in theory.ConclusionImproved availability of data on health worker migration, including their potential return and reintegration into their country of origin's health system, is urgently necessary to understand and continuously monitor costs and benefits in dynamic national and international health labour markets. Our results imply that potential benefits of migration do not come into being automatically, but need in‐country supportive policy and programming, such as favourable reintegration policies or programs targeting engagement of the diaspora.
Expanding from materials to biology inspired by biomineralization
Authors: Wang Qi , Hu Lishan , Wang Xiaoyu , Tang Ruikang 
Published: February 2024

AbstractBiomineralization is the intricate process by which living organisms orchestrate the formation of organic–inorganic composites by regulating the nucleation, orientation, growth, and assembly of inorganic minerals. As our comprehension of biomineralization principles deepens, novel strategies for fabricating inorganic materials based on these principles have emerged. Researchers can also harness biomineralization strategies to tackle challenges in both materials' science and biomedical fields, demonstrating a thriving research field. This review begins by introducing the concept of biomineralization and subsequently shifts its focus to a recently discovered chemical concept: inorganic ionic oligomers and their cross‐linking. As a novel approach for constructing inorganic materials, the inorganic ionic oligomer‐based strategy finds applications in biomimetic regeneration and repair of hard tissues, such as teeth and bones. Aside from innovative methods for material fabrication, biomineralization has emerged as an alternative method for tackling biomedical challenges by integrating materials with biological organisms, facilitating advancements in biomedical fields. Emerging material‐biological integrators play a critical role in areas like vaccine improvement, cancer therapy, universal blood transfusion, and arthritis treatment. This review highlights the profound impact of biomineralization in the development and design of high‐performance materials that go beyond traditional disciplinary boundaries, potentially promoting breakthroughs in materials science, chemical biology, biomedical, and numerous other domains.
IR780‐based diffuse fluorescence tomography for cancer detection
Authors: He Zhuanxia , Zhang Limin , Xing Lingxiu , Sun Wenjing , Gao Xiujun , Zhang Yanqi , Gao Feng 
Published: February 2024

AbstractIR780 iodide is a commercially available targeted near‐infrared contrast agent for in vivo imaging and cancer photodynamic or photothermal therapy, whereas the accumulation, dynamics, and retention of IR780 in biological tissue, especially in tumor is still under‐explored. Diffuse fluorescence tomography (DFT) can be used for localization and quantification of the three‐dimensional distribution of NIR fluorophores. Herein, a homemade DFT imaging system combined with tumor‐targeted IR780 was utilized for cancer imaging and pharmacokinetic evaluation. The aim of this study is to comprehensively assess the biochemical and pharmacokinetic characteristics of IR780 with the aid of DFT imaging. The optimal IR780 concentration (20 μg/mL) was achieved first. Subsequently, the good biocompatibility and cellar uptake of IR780 was demonstrated through the mouse acute toxic test and cell assay. In vivo, DFT imaging effectively identified various subcutaneous tumors and revealed the long‐term retention of IR780 in tumors and rapid metabolism in the liver. Ex vivo imaging indicated IR780 was mainly concentrated in tumor and lung with significantly different from the distribution in other organs. DFT imaging allowed sensitive tumor detection and pharmacokinetic rates analysis. Simultaneously, the kinetics of IR780 in tumors and liver provided more valuable information for application and development of IR780.
Genotype‐Guided Model for Prediction of Tacrolimus Initial Dosing After Lung Transplantation
Authors: Du Wenwen , Wang Xiaoxing , Zhang Dan , Zuo Xianbo 
Published: February 2024

AbstractThe determination of the appropriate initial dose for tacrolimus is crucial in achieving the target concentration promptly and avoiding adverse effects and poor prognosis. However, the trial‐and‐error approach is still common practice. This study aimed to establish a prediction model for an initial dosing algorithm of tacrolimus in patients receiving a lung transplant. A total of 210 lung transplant recipients were enrolled, and 26 single nucleotide polymorphisms (SNP) from 18 genes that could potentially affect tacrolimus pharmacokinetics were genotyped. Associations between SNPs and tacrolimus concentration/dose ratio were analyzed. SNPs that remained significant in pharmacogenomic analysis were further combined with clinical factors to construct a prediction model for tacrolimus initial dose. The dose needed to reach steady state tacrolimus concentrations and achieve the target range was used to validate model prediction efficiency. Our final model consisted of 7 predictors—CYP3A5 rs776746, SLCO1B3 rs4149117, SLC2A2 rs1499821, NFATc4 rs1955915, alanine aminotransferase, direct bilirubin, and hematocrit—and explained 41.4% variance in the tacrolimus concentration/dose ratio. It achieved an area under the receiver operating characteristic curve of 0.804 (95% confidence interval, 0.746‐0.861). The Hosmer‐Lemeshow test yielded a nonsignificant P value of .790, suggesting good fit of the model. The predicted dose exhibited good correlation with the observed dose in the early postoperative period (r = 0.748, P less than .001). Our study provided a genotype‐guided prediction model for tacrolimus initial dose, which may help to guide individualized dosing of tacrolimus in the lung transplant population in clinical practice.
Resurgence Following Higher or Lower Quality Alternative Reinforcement
Authors: Shahan Timothy A. , Sutton Gabrielle M. , Van Allsburg Jack , Avellaneda Matias , Greer Brian D. 
Published: February 2024

AbstractResurgence is a temporary increase in a previously suppressed target behavior following a worsening in reinforcement conditions. Previous studies have examined how higher rates or magnitudes of alternative reinforcement affect suppression of the target behavior and subsequent resurgence. However, there has been no investigation of the effects of higher versus lower qualities of alternative reinforcement on resurgence. Using a three‐phase resurgence preparation with rats, the present experiments examined the effects of an alternative reinforcer that was of higher (Experiment 1) or lower (Experiment 2) quality than the reinforcer that had previously maintained the target behavior. The results of both experiments showed greater reductions in target behavior with a higher quality alternative reinforcer and larger increases in target responding when a higher quality alternative reinforcer was removed. Along with prior findings with higher rates and magnitudes of alternative reinforcement, these findings suggest that variations in reinforcer dimensions that increase the efficacy of alternative reinforcement also tend to increase resurgence when alternative reinforcement is removed. The results are discussed in terms of the resurgence as choice in context model and in terms of potential clinical implications.
Morphological variations of auditory bullae in otomyine rodents (Rodentia: Otomyini) in southern African biomes
Authors: Edwards Shelley , Bessinger Rochelle 
Published: February 2024

AbstractMammalian middle ear cavities differ from those of other taxa as they comprise three ossicles and in rodents, can be encapsulated by an auditory bulla. In small mammals, the middle ear cavity (bulla) was found to be enlarged in the desert‐dwelling species; however, differences in bullar size could have been due to ancestry. In this study, we sampled seven species from three genera (Myotomys, Otomys, and Parotomys) of the African murid tribe Otomyini (laminated‐toothed rats), and compared the bullar volumes and shapes between the otomyine species and within the species Myotomys unisulcatus. Photographs of museum skull specimens were taken from ventral and lateral views, and the volumes of the bullae were estimated digitally from the photographs. No sexual dimorphism in bullar volumes was found in any of the species. Corrected bullar volumes were significantly different between species and larger bullae were seen in individuals inhabiting regions with lower annual rainfall. Bullar shape (estimated using geometric morphometrics) was significantly different between the genera and the species. Parotomys have tympanic meatuses that face more anteriorly compared to both, Otomys and Myotomys. When comparing bullae within M. unisulcatus, those inhabiting regions with lower annual rainfall had significantly larger bullar volumes, but no significant difference was found in bullar shape between the regions. This study shows that otomyine rodents in more xeric habitats have different auditory structures to those inhabiting wetter habitats.
Enhanced dynamic state estimation of regional new energy power system under different abnormal scenarios
Authors: Li Shuaibing , Jiang Ziwei , Cui Yi , Kang Yongqiang , Li Xingming , Li Hongwei , Dong Haiying 
Published: February 2024

AbstractThe high proportion of renewable energy sources in the power grid increases the failure probability of the system, which becomes a new challenge for the safe and stable operation of the regional power grid. To ensure stable control of the power network with substantial renewable energy integration, this article proposes a new method that combines the long short‐term memory (LSTM) neural networks and adaptive cubature Kalman filter (ACKF) to improve the prediction accuracy of mutation data inherited from the renewable generation. Four abnormal scenarios, including low voltage ride‐through (LVRT), high voltage ride‐through (HVRT), continuous fault ride‐through and bad data injection of the regional power grid are investigated through extensive case studies. The proposed method is implemented on the IEEE 30‐node system for performance verification. The simulation results demonstrate that the proposed method has considerably higher robustness than the traditional Kalman filter algorithm and can effectively improve the overall state estimation accuracy of the renewable energy power system under different scenarios.