bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of the clinical and genetic characteristics of gliomas with gene fusions by integrated genomic and transcriptomic analysis
Authors: Yi Guo-zhong , Zhang Hua-yang , Que Tian-shi , Qu Shan-qiang , Li Zhi-yong , Qi Song-tao , Huang Guang-long 
Published: June 2023

Abstract

The identification of oncogenic gene fusions in diffuse gliomas may serve as potential therapeutic targets and prognostic indicators, representing a novel strategy for treating gliomas consistent with the principles of personalized medicine. This study identified detectable oncogene fusions in glioma patients through an integrated analysis of genomic and transcriptomic data, which encompassed whole exon sequencing and next-generation RNA sequencing. Additionally, this study also conducted a comparison of the genetic characteristics, tumor microenvironment, mutation burden and survival between glioma patients with or without gene fusions. A total of 68 glioma patients were enrolled in this study, including glioblastoma (GBM), low grade glioma (LGG) and diffuse midline glioma (DMG). 14 cases of GBM patients (51.9%, 14/27) were found to harbor the following 70 oncogenic gene fusions: ROS1 (n = 8), NTRK (n = 5), KIF5 (n = 5), RET (n = 3) and other infrequent gene fusions (n = 49). A total of 11 gene fusions were identified in 8 LGG patients (32.0%, 8/25) and seven gene fusions were identified in one DMG patient (16.7%, 1/6). In GBM patient group, five genes including HOXA3, ACTB, CDK5, GNA12 and CARD11 exhibited a statistically significant higher copy number amplification frequency in the GBM group without gene fusions compared to that in the GBM group with gene fusions. In LGG patient group, CDK5 gene was also found to exhibit a statistically significant higher amplification frequency in the LGG group without gene fusions. Additionally, KMT2D exhibited a statistically significant higher mutation frequency in the LGG group with gene fusions compared to that in the LGG group without gene fusions. Comparison of the other genetic characteristics including immune cell infiltration score, tumor mutation burden (TMB), and microsatellite instability (MSI). The results showed no statistically significant differences were observed between fusion and non-fusion group of GBM and LGG. The survival analysis revealed that GBM patients without gene fusions exhibited a longer median survival (737 days) compared to GBM patients with gene fusions (642 days), but without a statistical significancy. Our study has identified a set of gene fusions present in gliomas, including a number of novel gene fusions that have not been previously reported. We have also elucidated the underlying genetic characteristics of glioma with gene fusions. Collectively, our findings have the potential to inform future clinical treatment strategies for patients with glioma.
Development of multiplex gold nanoparticles biosensors for ultrasensitive detection and genotyping of equine herpes viruses
Authors: Ghoniem Shimaa M. , ElZorkany Heba E. , Hagag Naglaa M. , ElDeeb Ayman H. , Shahein Momtaz A. , Hussein Hussein A. 
Published: June 2023

Abstract
Gold nanoparticles (GNPs) biosensors can detect low viral loads and differentiate between viruses types, enabling early diagnosis and effective disease management. In the present study, we developed GNPs biosensors with two different capping agent, citrate- GNPs biosensors and polyvinylpyrrolidone (PVP)- GNPs biosensors for detection of EHV-1 and EHV- 4 in multiplex real time PCR (rPCR). Citrate- GNPs and PVP- GNPs biosensors can detect dilution 1010 of EHV-1 with mean Cycle threshold (Ct) 11.7 and 9.6, respectively and one copy as limit of detection, while citrate- GNPs and PVP- GNPs biosensors can detect dilution 1010 of EHV-4 with mean Ct 10.5and 9.2, respectively and one copy as limit of detection. These findings were confirmed by testing 87 different clinical samples, 4 more samples were positive with multiplex GNPs biosensors rPCR than multiplex rPCR. Multiplex citrate- GNPs and PVP- GNPs biosensors for EHV-1 and EHV-4 are a significant breakthrough in the diagnosis of these virus types. These biosensors offer high sensitivity and specificity, allowing for the accurate detection of the target viruses at very low concentrations and improve the early detection of EHV-1 and EHV-4, leading to faster control of infected animals to prevent the spread of these viruses.
Deep learning radiomics based on Ultrasound images for assisted diagnosis of Chronic Kidney Disease
Authors: Tian Shuyuan , Yu Yonghong , Shi Kangjian , Jiang Yunwen , Song Huachun , Yan Xiaoqian , Zhong Yu , Shao Guoliang 
Published: June 2023

Abstract
Objective. This study aims to explore and discuss the application value of ultrasound images in chronic kidney disease(CKD) screening by constructing a CKD screening model based on gray-scale ultrasoundgraphs.
Methods. According to the diagnostic criteria of chronic kidney disease, retrospective registration was conducted with patients who came to Tongde Hospital of Zhejiang Province. Specifically, renal ultrasound images of 110 patients with chronic kidney disease in various stages and 30 patients with non-chronic kidney disease were studied. A total of 1456 renal ultrasound images were thereby collected, including 296 normal kidney ultrasound images of non-chronic kidney disease, 193 kidney ultrasound images of CKD stage 1, 232 kidney ultrasound images of CKD stage 2, 429 kidney ultrasound images of CKD stage 3, 165 kidney ultrasound images of CKD stage 4, and 141 kidney ultrasound images of CKD stage 5. The data of each group are then divided into three sets in an 8:1:1 manner, namely training set with 1166 images (3496 images after data expansion), validation set with 146 images and testing set with 149 images. The convolutional neural networks are used for feature extractions and the screening model is constructed by fusing ResNet34 and texture features for recognizing CKD and its stage. The performance of the model is evaluated by the receiver operating characteristic curve (ROC). A comparison analysis is also carried out with comparing the diagnosis results from ultrasound medicine physicians of two different levels, namely expert-level associate chief physician and resident physician.
Results. When diagnosing CKD or non-CKD based on renal ultrasound image,the accuracy, sensitivity, specificity and AUC of our model are 21.8%, 6.3%, 25.1% and 0.05 higher than those of expert physician group, and the diagnostic efficiency is higher than that of expert physician group, and the difference of AUC between our model and expert physician group is statistically significant,P < 0.05. In the stage diagnosis of CKD, the diagnostic sensitivity of our model in CKD G1-G3 is significantly higher than that of expert physician group, which increased by 51.7%, 56.8% and 21.9% respectively, and the diagnostic efficiency is also significantly higher than that of expert physician group. The difference of AUC is statistically significant,P < 0.05. The diagnostic efficiency of our model in CKD G4 and G5 can reach the level of expert physician group and there is no significant statistical difference between our model and expert physician group of AUC,P > 0.05.
Conclusions. Our deep learning radiomics model based on grayscale ultrasound can obtain richer diagnostic information, which is more effective than expert level ultrasound physicians in the diagnosis of early chronic kidney disease and can assist in the early screening of chronic kidney disease.
A gene knockout mutant of ferric uptake regulator (Fur) reveals biofilm formation, energy metabolism and transcript regulation are three toxicity regulation strategies of Vibrio harveyi isolated from American eels (Anguilla rostrota)
Authors: Wan Qijuan , Zhai Shaowei , Wang Yue , Xu Ming , Chen Minxia , Guo Songlin 
Published: June 2023

Abstract
Vibrio harveyi is commonly found in salt and brackish water, and is recognized as a serious bacterial pathogen in aquaculture worldwide. In this study, we cloned the ferric uptake regulator (Fur) gene from V. harveyi wild-type strain HA_1, which was isolated from diseased American eels (Anguilla rostrata) and has a length of 450 bp, encoding 149 amino acids. Then, a mutant strain, HA_1-ΔFur, was constructed through homologous recombination of a suicide plasmid (pCVD442). The HA_1-ΔFur mutant exhibited attenuated biofilm formation, intensified swarming motility, and 18-fold decrease (5.5%) in virulence to the American eels, but it showing no difference in growth and hemolysis with the wild-type strain. Transcriptome analysis revealed that 875 genes were differentially expressed in the ΔFur mutant, with 385 up-regulated and 490 down-regulated DEGs. GO and KEGG enrichment analysis revealed that, compared to the wild-type strain, the type II secretion systems (T2SS), type VI secretion systems (T6SS), amino acid synthesis and transport, and energy metabolism pathways were significantly down-regulated, but the ABC transporters and biosynthesis of siderophore group non-ribosomal peptides pathways were up-regulated in the ΔFur strain. The qRT-PCR results further confirmed that DEGs responsible for amino acid transport and energy metabolism were positively regulated, but DEGs involved in iron acquisition were negatively regulated in the ΔFur strain. These findings suggest that the gene Fur contribute to the virulence of V. harveyi through biofilm formation, energy metabolism, and transcript regulation.
Effects of light perception on visual function recovery in patients with traumatic optic neuropathy
Authors: Wang Jiancun , Xue Qiang , Tan Xuewen , Huang Jie , Zhu Yibai , Li Wen 
Published: June 2023

Abstract
Objective
This study aimed to assess the impact of light perception presence or absence on visual function recovery in patients with traumatic optic neuropathy (TON).
Methods
A retrospective analysis was conducted on the clinical data of 206 TON patients. Based on the presence or absence of light perception after injury, patients were categorized into a light perception group and a non-light perception group. A comparison was made between the two groups regarding visual acuity recovery before and after treatment.
Results
The non-light perception group comprised 63 patients, with a treatment effectiveness rate of 39.68%. The light perception group consisted of 143 patients, with a treatment effectiveness rate of 74.83%. The difference between the two groups was statistically significant (χ2 = 23.464, P < 0.01). Subgroup analysis indicated that surgical treatment appeared to be more effective than steroid hormone therapy for patients with light perception. Conversely, for patients without light perception, there was no significant difference in the effectiveness of the two methods.
Conclusion
The total effectiveness rate of the light perception group was significantly higher than that of the non-light perception group, suggesting that patients with light perception before treatment experience better outcomes compared to those without light perception. Treatment choices should be individualized to ensure optimal results.
Character and frequency of conjunctival tumors: A study of 107 Polish children
Authors: Chmielarz-Czarnocińska Anna , Musioł Aleksandra , Adamski Wojciech , Neagoy Douglas , Rospond-Kubiak Iwona , Gotz-Więckowska Anna 
Published: June 2023

Abstract
PURPOSE
Conjunctival tumors in children are rarely malignant. However, they often concern both parents and pediatricians, resulting in prolonged follow-up and surgery under general anesthesia in tertiary referral hospitals. The aim of the study was to analyze the type and frequency of benign and malignant conjunctival tumors among pediatric patients with conjunctival lesions.
METHODS
A retrospective analysis was carried out based on histopathological reports of surgically removed conjunctival lesions. We included patients below 18 years of age who underwent excisional biopsy in the Ophthalmology Department of Poznan University of Medical Sciences in Poland between November 2013 and November 2021.
RESULTS
We identified one-hundred-and-seven patients, 55 girls (51,4%) and 52 boys (48,6%), with conjunctival lesions. The mean age at the time of excision was 10 years (range: 7-17). All excised lesions were benign. Histopathological diagnoses were grouped into three classes: benign tumors (92 [86%]); fragments of a normal tissue with or without melanosis (11 [10,3%]); and inflammatory lesions (4 [3,7%]). Among benign tumors the most common was melanocytic nevus (87 [94,5%]). Other benign tumors included dysplastic nevus (1 [1,1%]), Spitz nevus (1 [1,1%]), epidermoid cyst (1 [1,1%]), lipoma (1 [1,1%]), papilloma (1 [1,1%]) and sebaceous nevus with chronic inflammation (1 [1,1%]).
CONCLUSION
Our study is consistent with reports confirming that malignant conjunctival tumors in children are extremely rare. Lesion character and patient age should be taken into account when considering surgical removal of conjunctival lesions in children as the procedure is performed under general anesthesia.
Ventricular bigeminy associated with myocardial ischemia in a dog with a colonic torsion: a case report
Authors: Burns Charlotte , Barletta Michele 
Published: June 2023

Abstract

Background
Ventricular bigeminy due to myocardial ischemia has been reported in humans as well as in canine patients with obstructive gastrointestinal diseases. This is the first case report of ventricular bigeminy in a dog with a colonic torsion that resolved with fluid resuscitation and restoration of myocardial perfusion.
Case Presentation
An 11-year-old, male neutered mixed breed dog presented with a one day history of vomiting, tenesmus, and lethargy. Physical examination identified an arrhythmia, namely ventricular premature complexes (VPCs), on a 3-lead ECG and intermittent pulse deficits. Abdominal radiographs confirmed a colonic torsion. Prior to anesthetic induction, ventricular bigeminy was noted that was non responsive to fentanyl or lidocaine. The patient was anesthetized and intravascular volume deficit was identified by dampened plethysmographic wave amplitude (plethysomographic variability), audible softening of the Doppler sound, and more pronounced pulse deficits. Fluid resuscitation was achieved with a combination of intravenous crystalloid and colloid fluid therapy comprising 7.2% hypertonic saline and 6% hetastarch. The patient’s cardiac rhythm converted to normal sinus after fluid resuscitation and the colonic torsion was surgically corrected. The patient recovered well from anesthesia and was ultimately discharged from the hospital.
Conclusions
The present case report highlights that myocardial ischemia can lead to ventricular arrythmias, such as ventricular bigeminy. This is the first documented case of ventricular bigeminy in the canine patient with a colonic torsion. Assessment of patient volume status and appropriate fluid resuscitation along with continuous electrocardiogram (ECG) monitoring are vital to patient stability under general anesthesia.
Parental Mental Disorders and Ages of Onset of Severe Mental Disorders in Offspring: A Nationwide Family-link Study
Authors: Ching Pao-Yuan , Hsu Tien-Wei , Tsai Shih-Jen , Bai Ya-Mei , Cheng Chih-Ming , Su Tung-Ping , Chen Tzeng-Ji , Liang Chih-Sung , Chen Mu-Hong 
Published: June 2023

Abstract
Objective
Few studies have investigated the association between age of onset of severe mental disorders (SMDs) in offspring and the likelihood of diagnoses of parental mental disorder.
Method
We enrolled 212,333 patients with schizophrenia, bipolar disorder (BD), or major depressive disorder (MDD) and 2,123,329 controls matched for age, sex, and demographics from the National Health Insurance Database of Taiwan. Poisson regression models were used to examine the likelihood of diagnoses of five mental disorders in their parents compared to the parents of the controls (reported as odds ratio (OR) with 95% confidence interval), including schizophrenia, BD, MDD, alcohol use disorder (AUD), and substance use disorder (SUD). The study cohort was classified into child-onset, adolescent-onset, and adult-onset groups according to the onset of SMDs in the offspring.
Result
The parents of patients with child-, adolescent-, and adult-onset schizophrenia (OR range: 1.73–9.08, all p < 0.05) or BD (OR range: 1.97–8.17, all p < 0.05) were more likely to be diagnosed with schizophrenia, BD, MDD, AUD, and substance use disorder (SUD) than controls except for AUD in the child-onset group. However, the parents of patients with child-, adolescent-, and adult-onset depressive disorder were more likely to be diagnosed with schizophrenia, BD, MDD, AUD, and SUD (OR range: 1.82–4.76, all p < 0.05) than controls. Sub-analyses stratified by sex showed different patterns of associations between parental mental disorders and offspring mental disorders.
Conclusion
No matter when the SMD occurred during the developmental milestone, their parents had higher likelihood of being diagnosed with schizophrenia, BD, MDD, AUD, and SUD.
Multimode OAM beam generation through 1-Bit programmable metasurface antenna for high throughput data communications
Authors: Nadi Morteza , Sedighy Seyed Hassan , Cheldavi Ahmad 
Published: June 2023

Abstract
In modern wireless communication, the orbital angular momentum (OAM) beam is considered as an important technology. Some considerable efforts have been devoted to using this technology for channel capacity enhancement as much as possible. Nowadays, programmable metasurfaces provide an innovational scenario for generating multi-mode OAM beams due to their ability for digital electromagnetic waves modulation. However, the current programmable metasurfaces for generating OAM beams are typically based on reflective and transmissive modes, which have low aperture efficiency due to spillover and illumination effects. In this paper, a 1-bit programmable metasurface antenna is proposed with capability of producing highly efficient dynamic multi-mode OAM beams. The proposed structure is consisted of electronically reconfigurable meta-radiating elements loaded by PIN diodes to generate two-phase states of electric field. The designed Field Programmable Gate Array (FPGA) can assign a code sequence of 0 or 1 to the metasurface antenna in real-time to generate multi-mode OAM beams. Hence, a dynamical surface is obtained by switching PIN diodes to change the phase distribution on the surface. To verify the concept, the metasurface antenna is fabricated and measured with different OAM beam states, which are in agreement with the full-wave simulations, properly. The designed structure introduces a capable multi-mode OAM alternative for high throughput mm-wave communications.
Comparative Analysis of Evolutionary Techniques for Economical Load Dispatch in a 6-Unit Thermal Power System
Authors: KHOBARAGADE TEJASWITA , Chaturvedi k t 
Published: June 2023

Abstract

The economical load dispatch problem is a critical concern in thermal power systems to ensure cost-effective operation. This paper conducts a comparative analysis between the Social Spider Algorithm (SSA) and Particle Swarm Optimization (PSO) for economical load dispatch in a 6-unit thermal power system with the integration of 11,000 plug-in electric vehicles (PEVs). Both SSA and PSO are population-based optimization techniques designed to minimize the overall fuel cost while satisfying the load demand by determining the optimal power output of each unit. SSA emulates the social behavior of spiders, while PSO simulates the collective intelligence of a swarm of particles. Performance evaluation of the algorithms considers power system data, such as unit fuel costs, minimum and maximum loads, and total load demand. The objective is to minimize fuel cost while meeting the load demand. Comparative analysis of SSA and PSO includes convergence speed, solution quality, and computational efficiency. Experimental results indicate that SSA outperforms PSO in achieving a more optimal and economical load dispatch solution for the 6-unit thermal power system. SSA demonstrates faster convergence and provides superior-quality solutions compared to PSO. This paper contributes to the field by highlighting SSA's effectiveness in achieving cost-efficient operation of thermal power systems. The findings suggest that SSA holds promise as an optimization technique for similar power system optimization problems, enhancing overall operational efficiency and reducing costs for thermal power plants.
Spatially Well Structured Mangroves Fish Communities of the Persian Gulf; a Functional Perspective
Authors: Raeisbahrami Arash , Shafiekhani Fatemeh , Naderloo Reza 
Published: June 2023

Abstract
Functional diversity is one of the most important aspects of biodiversity studies. In this work, the functional diversity of two mangrove-associated fish communities in the Persian Gulf is evaluated, including 34 species from the estuary community and 23 species from the creek/mud community. For each community, three functional diversity indices were calculated, namely, FD (Functional Diversity, representing functional richness), MPD (Mean Pairwise Distance, representing dispersion), and MNTD (Mean Nearest Taxon Distance, representing evenness). The comparison between the observed values and the expected values indicates the low functional diversity of the estuary community, whereas, the functional diversity of the species inhabiting creeks and mud flats was not significantly lower or higher than the expected functional diversity. Moreover, the dispersion of functional traits in creek/mud species was higher and the evenness was lower than the estuaries community. This can be related to the more homogenous habitat of the estuary environment, in comparison with the creeks and mudflats. Also, we can attribute the low functional diversity of the estuary community to both the homogenous structure and the preliminary situation of the Persian Gulf. Dendrogram-based analyses show four functional guilds in both communities and were used to the recognition of the most important species for the functional diversity in each community. We found that the most important functional traits that explain the functional diversity in the estuary community were the general traits of size and position in the vertical column in water, however, in creek/mud communities more specialized traits such as the feeding habit and the migratory status explain most of the diversity.