bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evidence of a de novo variant in FBN1:p.(Ala882Val) as the cause of congenital bilateral ectopia lentis in a crossbred horse
Authors: Esdaile Elizabeth , Houston Kristopher , Till Bradley J. , Scurrell Emma , Ling Max , Hartley Claudia , Bellone Rebecca R. 
Published: November 2024

Abstract

Background: Although several inherited ocular disorders have been extensively studied in horses, few reports of equine ectopia lentis exist and no genetic investigations have been performed. Ectopia lentis in humans and other species is reported to be caused by trauma, genetic variants, and systemic diseases. The most commonly reported genetic causes are dominant variants in FBN1. Here we examined a 3-day old Oldenburg x Thoroughbred colt due to concerns over bilateral ocular anomalies and hypothesized that either a recessively inherited variant or a dominant de novo mutation that occurred in the affected horse was the genetic cause.
Results: Examination revealed bilateral microphakia and spherophakia with medioventral lens subluxation. Histopathology of the globes was consistent with ectopia lentis. Whole genome sequencing of the affected foal was conducted, and forty-six candidate genes were evaluated for SNPs and small INDELS. Testing both hypotheses, 82 variants were identified, of which 69 were present in publicly available data from 504 horses and not investigated further. Of the 13 remaining variants, two variants were found in 3’ UTRs (ADAMTS17 and OAF), ten were intronic, and one was a coding variant located in fibrillin-1 (FBN1) (FBN1:p.(Ala882Val)). This variant was also computationally predicted to be deleterious to protein function. The affected foal was confirmed by Sanger sequencing to be heterozygous for this variant and his clinically unaffected dam and reportedly unaffected sire and five paternal half-siblings were homozygous for the reference allele. Additionally, this same substitution is reported to be pathogenic, causing Marfan syndrome in humans with a dominant mode of inheritance, of which ectopia lentis is a common feature.
Conclusion: These findings support the de novo hypothesis with the variant FBN1:p.(Ala882Val) as the likely cause of ectopia lentis in this foal. This is the first report of ectopia lentis caused by a genetic variant in the horse. Given the role of FBN1 in ectopia lentis in humans and other species, FBN1 should be evaluated as a potential candidate when other horses with this condition are identified.
Precise amplification-free detection of highly structured RNA with an enhanced SCas12a assay
Authors: liu yi 
Published: November 2024

Abstract

The CRISPR/Cas12a system has revolutionized molecular diagnostics; however, its application in directly detecting complex structured RNA remains challenging. Recently, we have developed a RNA detection method called SCas12a, which exhibits high sensitivity and efficiency in detecting RNA molecules devoid of intricate secondary structures. Here, we present an enhanced SCas12a assay (SCas12aV2) that facilitates precise amplification-free detection of highly structured RNA molecules. Our approach reengineers the split Cas12a system by optimizing the scaffold RNA length and targeting asymmetric RNA structures, thereby minimizing steric hindrance. We observe that utilization of a dsDNA-ssDNA hybrid DNA activator significantly enhances both the sensitivity and kinetics compared to those achieved using traditional ssDNA or dsDNA activators. The SCas12aV2 assay demonstrates exceptional sensitivity, with a limit of detection reaching 246 aM for pooled activators and 10 pM for single-site targeting. It also exhibits high specificity for single nucleotide polymorphisms (SNPs) and successfully identifies viable bacterial populations and SARS-CoV-2 infections from clinical samples. The assay's versatility is further highlighted by its applicability to various Cas12a orthologs, including the thermostable CtCas12a. This work offers a significant advance in molecular diagnostics, enhancing the potential for accurate and efficient RNA detection.
Neutrophil-related indicators as potential peripheral blood biomarkers for the diagnosis of neurosyphilis: A cross-sectional study
Authors: Tang Yijie , Yang Dandan , Zhang Jiaqin , Shen Lingyun , Xie Qinghui , Luo Qingqiong 
Published: November 2024

Abstract

Background: Neurosyphilis (NS) is the most serious complication elicited by the invasion of Treponema pallidum (T. pallidum) into the central nervous system. Identifying the neuro-invasion of T. pallidum as early as possible is important. Looking for indicators with good performance and convenient to operate is in great demand for the diagnosis of NS.
Methods: A cross-sectional study was conducted on 428 syphilis patients who underwent therapy in Shanghai Skin Disease Hospital from April 2022 to June 2023. The syphilis patients were further grouped into non-neurosyphilis (NNS), asymptomatic neurosyphilis (ANS) and symptomatic syphilis (SNS). Laboratory examination results of these patients were analyzed.
Results: Significantly elevated neutrophil CD64 (nCD64) index and neutrophil to lymphocyte ratio (NLR) were observed in ANS and SNS patients compared with those of NNS patients. nCD64 index and NLR were strongly correlated with serum and cerebrospinal fluid (CSF) TRUST titer, CSF WBC and CSF protein levels in NS patients. nCD64 index and NLR were independent factors influencing NS, especially ANS. Logistic regression models based on nCD64 index, NLR and serum TRUST titer exhibited better diagnostic performances to the currently used markers in NS diagnosis. Particularly, for NS patients with negative CSF TRUST, diagnostic performance of the combined nCD64 and NLR was obviously superior to CSF protein and CSF WBC.
Conclusions: Neutrophil-related indicators-nCD64 index and NLR have potential application value in the diagnosis of NS, especially for the CSF TRUST negative patients.
The Role of Renewable Energy in Combating Environmental Degradation in Somalia
Authors: Osman Bashir Mohamed , Shire Said Ali , Ali Farhan Habib 
Published: November 2024

Abstract

Environmental degradation is a pressing global issue with far-reaching consequences for the health of our planet and the well-being of its inhabitants. It is characterized by the deterioration of Earth's natural systems due to factors such as pollution, deforestation, and climate change, leading to biodiversity loss and the depletion of natural resources. Addressing these challenges is essential for maintaining ecological balance and ensuring sustainable practices that mitigate environmental impacts and preserve the planet for future generations. This paper explores the key drivers and impacts of environmental degradation in Somalia, with a focus on economic growth, agricultural expansion, and population growth. Methods: The study employs the Autoregressive Distributed Lag (ARDL) Model to examine both long- and short-run relationships between environmental degradation and variables such as economic growth, domestic investment, agricultural land, and population growth. The ARDL model, chosen for its robustness with small sample sizes and flexibility with variable integration, utilizes annual time series data from 1990 to 2020. The model was selected using log-likelihood and the Akaike Information Criterion (AIC). Results and Recommendations: The findings reveal that both long- and short-run estimates show agricultural land expansion as a significant contributor to environmental degradation in Somalia. Economic and population growth further exacerbate the issue, while domestic investment helps mitigate degradation. The study highlights the role of deforestation in biodiversity loss, soil degradation, and climate change. It recommends promoting sustainable agricultural practices such as conservation agriculture and agroforestry to curb deforestation and promote environmental sustainability.
Effect of Health Education on Knowledge and Management of Tuberculosis among Patent Medicine Vendors in Rural Local Government Areas in Enugu, Nigeria
Authors: Udeh Simon C. , Emelumadu Obiageli F. , Ogbonna Brian O. , Udeh Susan C. , Eneh Blessing N. , Ugwuona Kenneth C. , Nwajei Lucky 
Published: November 2024

Abstract

BACKGROUND: Tuberculosis remains a serious public health threat to people of all sexes and ages in Nigeria. The world health organization (WHO) global Tuberculosis report 2014, reported that Enugu recorded slight increase in all cases of Tuberculosis and case reporting and finding remains low. Any intervention that could improve the knowledge of tuberculosis and treatment services will definitely to improve case reporting/ finding and reduce the incidence rate.
Therefore, it is important to determine the effect of a health education intervention on knowledge and management of tuberculosis among patent medicine vendors (PMVs) in rural local government area, Enugu State.
METHODS:An educational interventional study was carried out among 400 PMVs in rural LGAs in Enugu state. A multi-stage sampling method was used to select the participants. Thereafter, interviewer-administered semi-structured questionnaire was used to get the responses of the respondents. Data collected was analyzed using Statistical package for Social Sciences (SPSS) version 23. Inferential statistics was calculated. The p-value of < 0.05 was considered to be significant.
RESULTS: The results of this study revealed that majority of respondents had age range between 18-51 years, with mean age of 39±13.4 and 40±14.7 respectively. Secondly, Primary and Secondary school were identified as the highest level of education attended by most of the respondents. The results revealed that knowledge of the PMVs on tuberculosis increased from 28.0% (14.1±6.76) at baseline to 96.7% (25.4±5.0) after 3months post-intervention and management knowledge improved from 27.5% (14.1±6.76) at baseline to 97.3% (25.4±5.0) 3 months post-intervention and p value (0.05). This shows that the health education statistically improved knowledge and management skills of the respondents.
CONCLUSION: The study revealed that the level of education positively improved Tuberculosis knowledge among the respondents. Therefore, emphasis should be laid on more training and retraining of PMVs in Enugu and this will improve TB case detection and management.
Epstein-Barr virus induces B cell migration and diapedesis
Authors: Delecluse Henri-Jacques , Delecluse Susanne , Baccianti Francesco , Steffens Alina , poirey remy , Holland-Letz Tim , judt daniel , Drenda Carolin , Zala manon , Sujobert Pierre 
Published: November 2024

Abstract

Infection with the Epstein-Barr virus (EBV) is a major risk factor for the development of cancer and autoimmune disorders. The virus enters the body in the pharynx, but EBV causes disease in distant organs, including the gut and the brain. Here we show that infected B cells display features of homing cells. First, they undergo migration through chemokinesis induced by paracrine CCL4 release and CCR1 activation, two molecules induced by the virus. CCR1 knockout inhibited migration and, unexpectedly, proliferation of infected B cells. Second, migrating EBV-infected cells disrupted the integrity of endothelial barriers and underwent diapedesis very efficiently. This process was again dependent on CCL4 and its ability to induce ICAM-1 on endothelial cells. Migration and diapedesis converged on the FAK kinase whose inhibition blocked cell growth and survival of EBV-transformed B cells, but also their spreading to spleen and brain in an animal model in vivo. Moreover, IL-10 secreted by EBV-infected B cells attracted and facilitated diapedesis of EBV-negative CD52high primary B cells. Among these, CD11c+ cells that have been implicated in the pathogenesis of autoimmune diseases were preferentially represented. Curbing migration offers an opportunity to reduce the pathogenicity of EBV-infected B cells in diseased individuals.
Aging-Related Increase in Hepatic Microbiota and Glutamine Promotes M2 Polarization of Macrophage in the Aging Liver
Authors: zheng jinping 
Published: November 2024

Abstract

In the aging liver, a distinct senescence-associated secretory phenotype (SASP) and a concomitant influx of inflammatory cells are observed. Traditionally considered an immune-privileged site, the etiology of pronounced immune cell infiltration into the liver during senescence remains inadequately understood. The potential contribution of microbial entities to this age-related hepatic inflammation is not well-characterized. Through the analysis of clinical liver specimens and aged murine models, we documented a notable augmentation in hepatic bacterial load that paralleled the progression of aging, concomitant with a marked decline in the diversity of the hepatic microbiome. With advancing senescence, we detected an upregulation of glutamine biosynthesis within the liver. Furthermore, our findings reveal that enhanced glutamine availability preferentially skews macrophage differentiation toward an anti-inflammatory M2 phenotype, rather than a pro-inflammatory M1 phenotype. Utilizing the glutaminase inhibitor BPTES, we demonstrated that attenuation of glutamine catabolism leads to a substantial reduction in both hepatic bacterial abundance and inflammatory cell infiltration, while simultaneously impeding the M2 macrophage polarization. Our study provides new insights into the dynamic relationship between shifts in hepatic microbial populations, glutamine metabolic pathways, and immune regulatory mechanisms throughout liver aging. These findings lay the groundwork for pioneering therapeutic approaches targeting the mitigation of liver pathologies associated with the aging process.
Functionality of Toxoplasma gondii antibodies in a population of Beninese pregnant women exposed to malaria
Authors: Souffou Mariama , Dechavanne Célia , Kammoun Zaineb , Viwami Firmine , Gaugué Isabelle , Beldjoudi Naima , Dechavanne Sébastien , Sare Nawal , Garcia André , Dambrun Magalie , Migot-Nabias Florence 
Published: November 2024

Abstract

Plasmodium falciparum and Toxoplasma gondii are two parasitic species affecting humans, that can lead to severe complications for the newborn when contracted during pregnancy. This study explores the cross-reactivity of antibodies specific to both pathogens in pregnant women belonging to population groups either exposed (Benin) or non-exposed (France) to malaria. The antibody response against antigens from both P. falciparum and T. gondii was analysed on plasma samples from the following population groups: PlasDCty (Benin, n = 29), CoaLa (Benin, n = 95) and TOXODIAG (France, n = 24). The antibody functionality was also assessed using P. falciparum in vitro Growth Inhibition Assay (GIA). The results demonstrated that toxoplasmosis seropositive women had higher levels of functional antibodies blocking P. falciparum growth in vitro than toxoplasmosis seronegative women particularly for those with an ongoing malaria infection. Interestingly, women with a concomitance of the two pathogens exhibited an even stronger functional antibody response against P. falciparum than women only seropositive for malaria (p = 0.001). These data suggest that the presence of T. gondii may influence the immune responses against malaria infection by enhancing growth inhibition activity of antibodies. This study provides insight into the immune dynamics of the co-infection by these two apicomplexans with potential implications for the development of cross-protective vaccines and therapies.
The behavior of Tilted RC Beams Under Biaxial Shear and Torsion: A Finite Element Approach
Authors: Majeed Hassan Hussein , Mohaisen Saad Khalaf 
Published: November 2024

Abstract

In recent years, there has been an urgent need to find unconventional solutions to meet the architectural requirements in designs to produce larger spaces using relatively small or proportionate sections that do not negatively affect the aesthetic appearance of the design. From this standpoint, research and study were conducted on inclined beams and the difference between them and regular beams, studying their behavior and capacity and whether the American ACI code specifications apply to them or require a unique code. This research is based on analyzing the behavior of beams under the influence of biaxial shear forces and torsional moments by designing three groups of models to compare them with regular beam models and compare their behavior and the amount of their resistance to loads. Three methods of analysis were used to apply a load; the first method was to apply biaxial shear force, which had eccentricity from the shear center on a notch at the mid-section of the tilted beam to cause biaxial shear and torsion on the longitudinal span. The second method applied pure torsion on the mid-span of the tilted beam, and the third method used a lever system at the mid-span of the tilted beam to cause biaxial shear and torsion. The results of the analysis help to understand the behavior of tilted beams under torsion and the differences between them and the standard beams.
Exploring Pathways between Internalized Weight Bias, Eating Disorder Psychopathology, and Weight Loss Expectations in Treatment-Seeking Adults with Binge Eating and Obesity
Authors: Obleada Katrina , Ortega Adrian , Rooper Isabel , Parsons Leah , Kruger Macarena , Azubuike Chidiebere , Lipman Lindsay , Chen Diane , Wildes Jennifer , Graham Andrea 
Published: November 2024

Abstract

Purpose
Individuals with obesity and binge eating face weight stigma, which can lead to internalized weight bias (IWB), reinforce eating disorder (ED) pathology, and promote unrealistic weight loss expectations (WLE). Greater understanding of pathways between IWB, ED pathology, and WLE could inform interventions to promote healthy WLE and reduce IWB. This study explored pathways through which IWB directly and indirectly relates to eating pathology and WLE in treatment-seeking adults with obesity and recurrent binge eating.
Methods
Participants (N = 199, Mage = 40.3, SD = 14.3) completed the Eating Disorder Examination interview (EDE) and questionnaire (EDE-Q), Modified Weight Bias Internalization Scale, and Positive and Negative Affect Scale. WLE were calculated based on participants’ expected weight loss divided by current weight. We hypothesized that greater IWB would be associated with greater eating pathology and higher WLE. Pearson correlations were examined to identify possible pathways, followed by exploring direct and indirect associations for pathways with significant correlations.
Results
IWB was positively correlated with Eating and Shape Concerns, as well as negative affect (p < 0.05), but not with WLE. Negative affect was positively correlated with WLE. In the pathway model, IWB was directly, negatively associated with WLE (b=-0.02, p < 0.05). Negative affect was a significant indirect pathway between IWB and WLE (b = 0.01).
Conclusions
Our results align with previous literature showing that IWB reinforces eating pathology. Interventions targeting negative affect might promote more reasonable WLE.
Effects of grain size distribution on the movement and deposition of granular materials flowing down an inclined channel
Authors: Jan Chyan Deng , Nguyen Le Trang , Dey Litan 
Published: November 2024

Abstract

Understanding the movement and deposition patterns of granular materials is important for understanding the landslides and dry granular flow hazards in mountainous regions. This study investigates the influence of grain size distribution, characterized by median grain size (\(\:{\text{D}}_{\text{50}}\)) and sorting coefficient (\(\:{\text{S}}_{\text{c}}\)), on the moving and deposit characteristics of dry granular materials using an inclined channel coupled with a horizontal tank. The experiments involved measuring the entry speed (\(\:{\text{V}}_{\text{0}}\)), runout distance (\(\:{\text{L}}_{\text{R}}\)), maximum width (\(\:\text{W}\)), and the final deposit shape profiles under varying channel slopes (\(\:\theta\:=\) 25°, 30°, and 35°). To comprehend the influence of grain size distribution and channel slopes on the entry speed, an empirical equation is provided relating \(\:{\text{V}}_{\text{0}}\) to \(\:{\text{D}}_{\text{50}}\), \(\:{\text{S}}_{\text{c}}\), and \(\:\theta\:\:\)using multiple linear regression analysis. The results demonstrate that as the channel slope increases, the runout distance and entry speed increase, while the deposit width decreases. Empirical equations relating the entry speed with the runout distance and maximum width are also provided to further demonstrate the influence of entry speeds on the deposit characteristics. Additionally, the analysis of the grain size distribution within the final deposits revealed a distinct pattern, with coarser grains settling towards the Tail and finer grains accumulating in the Middle and Front. Granular materials with higher \(\:{\text{S}}_{\text{c}}\) exhibit higher grain size segregation, resulting in a more heterogeneous deposit in the horizontal tank. The findings of this study can contribute to improving the understanding and prediction of the mobility and impact of landslides and dry granular flows.
Research on Hertz Contact Theory considering particle shape and contact
Authors: Qiu Zhenfeng , Meng Qi , Lei Ruiyi , Liu Yan 
Published: November 2024

Abstract

In rockfill materials, block stones can fracture and break under high stress levels, causing problems such as cracks or excessive deformation in the project. In the numerical simulation analysis of soil and slope safety,the maximum contact stress criterion is widely used as a standard for judging particle breakage. Currently, the criteria mostly consider the influence of particle size on strength, and the influence on particle shape and contact angle has not been clearly reflected. The single-particle compression tests were conducted on the gypsum ellipsoidal of different sizes and shape under four contact angles, and the strain during the loading process was recorded using DIC technology. The results show that the particles undergo plastic deformation at the loading site, and the shape of the deformation area is related to the particle shape and contact angle. The Hertz contact stress formula has been improved based on the analytical solution of the contact area, which can accurately reflect the influence of particle size, shape, and contact angle on the maximum contact stress. The calculated value is close to the experimental strength, accurately understand the influencing factors of particle crushing strength and improve the applicability of particle fragmentation criteria in engineering applications.
HUB Site Power Optimization for Downlink Microwave Site Protection for Ethio-telecom Network Operator
Authors: Agmas Melkamu Sisay 
Published: November 2024

Abstract

This study investigates secure communication solutions within mobile networks, with a focus on Ethio telecom’s infrastructure in Ethiopia. Hub sites, primarily powered by the Ethiopian Electric Utility (EEU) with backup support from diesel generators and batteries, often experience service interruptions during prolonged EEU outages or diesel generator failures. These disruptions affect all downlink connections, underscoring the need for power optimization and effective management of hub sites to safeguard downlink microwave (MW) and radio access network (RAN) units. I propose a controlled DC power distribution system for remote radio units on both ground-based and rooftop towers. Integrating this DC power setup with a network monitoring system and secure access controls aims to enhance hub site power management and ensure the protection of MW and RAN units. The proposed power control method is evaluated, demonstrating its capability to maintain downlink operations until Ethiopian Electric Utility power is restored or generator is repaired.