Miracle-dz/UniFAR-FTUs huggingface dataset:
Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes

Mutations of the SCN1A gene, which encodes the voltage-dependent Na+ channel’s α subunit, are associated with diverse epileptic syndromes ranging in severity, even intra-family, from febrile seizures to epileptic encephalopathy. The underlying cause of this variability is unknown, suggesting the involvement of additional factors. The aim of our study was to describe the properties of mutated channels and investigate genetic causes for clinical syndromes’ variability in the family of five SCN1A gene p.Arg1596Cys mutation carriers. The analysis of additional genetic factors influencing SCN1A-associated phenotypes was conducted through exome sequencing (WES). To assess the impact of mutations, we used patch clamp analysis of mutated channels expressed in HEK cells and in vivo neural excitability studies (NESs). In cells expressing the mutant channel, sodium currents were reduced. NESs indicated increased excitability of peripheral motor neurons in mutation carriers. WES showed the absence of non-SCA1 pathogenic variants that could be causative of disease in the family. Variants of uncertain significance in three genes, as potential modifiers of the most severe phenotype, were identified. The p.Arg1596Cys substitution inhibits channel function, affecting steady-state inactivation kinetics. Its clinical manifestations involve not only epileptic symptoms but also increased excitability of peripheral motor fibers. The role of Nav1.1 in excitatory neurons cannot be ruled out as a significant factor of the clinical phenotype.
Haematologic biomarkers and survival in gallbladder cancer: a systematic review and meta-analysis

Background Gallbladder cancer is a rare malignancy characterised by poor survival with lack of durable response to treatment. Thus, novel biomarkers are needed to prognosticate patients. This systematic review and meta-analysis sought to examine the role of neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, platelet count (PC) and serum immune inflammation index in predicting the survival of patients with gallbladder cancer. Materials and methods A systematic search was done using PubMed, Cochrane, ClinicalTrials.gov and Google Scholar for articles published from inception until 8 February 2022. Hazard ratios (HR) with 95% confidence intervals (CI) were pooled and subgroup analyses were conducted according to treatment, region and cut-offs. The primary outcome of interest was overall survival (OS). Data were summarised using RevMan version 5.4. Results Twenty studies comprising 5,183 patients were included in the analysis. High neutrophil-lymphocyte ratio (HR 1.72, 95% CI 1.47–2.02), platelet-lymphocyte ratio (HR 1.51, 95% CI 1.33–1.72), monocyte-lymphocyte ratio (HR 1.96, 95% CI 1.46–1.64), PC (HR 1.20, 95% CI 1.02–1.40) and serum inflammation index (HR 1.73, 95% CI 1.36–2.18) were all associated with worse survival. The association was consistent across most subgroups on race and cut-offs with a trend towards poor survival for PC above 252.5. Conclusion High neutrophil-lymphocyte ratio, platelet-lymphocyte ratio, monocyte-lymphocyte ratio, PC and SII are associated with worse OS in gallbladder cancer and are potential biomarkers for prognostication. Prospective studies are recommended to further evaluate their use.
The Phenomenon of Presence in Virtual Reality Is Mistakenly Equated with Immersion

Abstract In contemporary scientific literature, the concept of presence in virtual reality is often fuzzily interpreted or conflated with the concept of immersion in video games. This paper aims to highlight that confusion, examine its possible causes and effects, and offer assistance for avoiding it in the future. Concepts of immersion and presence are analyzed in terms of their origins and current use. The distortion of the original understanding of the phenomenon of presence is highlighted, emphasizing its actual and potential harm to theoretical work and empirical research. A set of criteria for evaluating the adequacy of research methods concerning presence is introduced.
Neurodegeneration and neuroinflammation are linked, but independent of alpha‐synuclein inclusions, in a seeding/spreading mouse model of Parkinson's disease

A key pathological process in Parkinson's disease (PD) is the transneuronal spreading of α‐synuclein. Alpha‐synuclein (α‐syn) is a presynaptic protein that, in PD, forms pathological inclusions. Other hallmarks of PD include neurodegeneration and microgliosis in susceptible brain regions. Whether it is primarily transneuronal spreading of α‐syn particles, inclusion formation, or other mechanisms, such as inflammation, that cause neurodegeneration in PD is unclear. We used a model of spreading of α‐syn induced by striatal injection of α‐syn preformed fibrils into the mouse striatum to address this question. We performed quantitative analysis for α‐syn inclusions, neurodegeneration, and microgliosis in different brain regions, and generated gene expression profiles of the ventral midbrain, at two different timepoints after disease induction. We observed significant neurodegeneration and microgliosis in brain regions not only with, but also without α‐syn inclusions. We also observed prominent microgliosis in injured brain regions that did not correlate with neurodegeneration nor with inclusion load. Using longitudinal gene expression profiling, we observed early gene expression changes, linked to neuroinflammation, that preceded neurodegeneration, indicating an active role of microglia in this process. Altered gene pathways overlapped with those typical of PD. Our observations indicate that α‐syn inclusion formation is not the major driver in the early phases of PD‐like neurodegeneration, but that microglia, activated by diffusible, oligomeric α‐syn, may play a key role in this process. Our findings uncover new features of α‐syn induced pathologies, in particular microgliosis, and point to the necessity for a broader view of the process of α‐syn spreading.
Research progress on the application of 16S rRNA gene sequencing and machine learning in forensic microbiome individual identification

Forensic microbiome research is a field with a wide range of applications and a number of protocols have been developed for its use in this area of research. As individuals host radically different microbiota, the human microbiome is expected to become a new biomarker for forensic identification. To achieve an effective use of this procedure an understanding of factors which can alter the human microbiome and determinations of stable and changing elements will be critical in selecting appropriate targets for investigation. The 16S rRNA gene, which is notable for its conservation and specificity, represents a potentially ideal marker for forensic microbiome identification. Gene sequencing involving 16S rRNA is currently the method of choice for use in investigating microbiomes. While the sequencing involved with microbiome determinations can generate large multi-dimensional datasets that can be difficult to analyze and interpret, machine learning methods can be useful in surmounting this analytical challenge. In this review, we describe the research methods and related sequencing technologies currently available for application of 16S rRNA gene sequencing and machine learning in the field of forensic identification. In addition, we assess the potential value of 16S rRNA and machine learning in forensic microbiome science.
Resection of Colorectal Liver Metastases with Major Vessel Involvement

Simple Summary Liver resection for colorectal liver metastases (CRLM) with major vessel involvement is challenging and valid data on outcomes are still lacking. We analyzed data of 32 hepatectomies combined with 35 major hepatic vessel resections and reconstructions with special regard to surgical approaches, histopathological findings and outcome. The vena cava inferior was resected and reconstructed in 19, the portal vein in 6 and a hepatic vein in 10 cases. Histology confirmed a vascular infiltration in 6/32 patients. In conclusion, liver resections with vascular resection/reconstruction are rare, but can be performed with low morbidity and mortality and histological vessel infiltration occurs seldom. Abstract Background: Treatment of CRLM with major vessel involvement is still challenging and valid data on outcomes are still rare. We analyzed our experience of hepatectomies with resection and reconstruction of major hepatic vessels with regard to operative and perioperative details, histopathological findings and oncological outcome. Methods: Data of 32 hepatectomies with major hepatic vessel resections and reconstructions were included. Results were correlated with perioperative and oncological outcome. Results: Out of 1236 surgical resections due to CRLM, we performed 35 major hepatic vessel resections and reconstructions in 32 cases (2.6%) during the study period from January 2008 to March 2023. The vena cava inferior (VCI) was resected and reconstructed in 19, the portal vein (PV) in 6 and a hepatic vein (HV) in 10 cases. Histopathological examination confirmed a vascular infiltration in 6/32 patients (VCI 3/17, HV 2/10 and PV 1/6). There were 27 R0 and 5 R1 resections. All R1 situations affected the parenchymal margin. Vascular wall margins were R0. Ninety-day mortality was 0. The median overall survival (OS) for the patient group with vascular infiltration (V1) was 21 months and for the V0 group 33.3 months. Conclusion: Liver resections with vascular resection and reconstruction are rare and histological vessel infiltration occurs seldom. In cases with presumed vascular wall infiltration, liver resection combined with major vessel resection and reconstruction can be performed with low morbidity and mortality. We prefer a parenchymal sparing liver resection with vascular resection and reconstruction to achieve negative resection margins, but in technically difficult cases with higher risk for postoperative complications, tumor detachment from vessels without resection is a most reasonable surgical alternative.
A Low-Resolution Infrared Array for Unobtrusive Human Activity Recognition That Preserves Privacy

This research uses a low-resolution infrared array sensor to address real-time human activity recognition while prioritizing the preservation of privacy. The proposed system captures thermal pixels that are represented as a human silhouette. With camera and image processing, it is easy to detect human activity, but that reduces privacy. This work proposes a novel human activity recognition system that uses interpolation and mathematical measures that are unobtrusive and do not involve machine learning. The proposed method directly and efficiently recognizes multiple human states in a real-time environment. This work also demonstrates the accuracy of the outcomes for various scenarios using traditional ML approaches. This low-resolution IR array sensor is effective and would be useful for activity recognition in homes and healthcare centers.
Extreme temperatures increase the risk of pediatric pneumonia: a systematic review and meta-analysis

Introduction The impact of climate change on ambient temperatures threatens to worsen pediatric pneumonia-related outcomes considerably. This study examined the associations of temperature variation and extreme temperature with pediatric pneumonia-related events using a meta-analysis. Methods We systematically searched PubMed, Medline, Embase, and Web of Science databases for relevant literature, and the quality of evidence was assessed. Fixed and random-effects meta-analyses were performed to calculate the pooled relative risks (RRs) of the associations with pneumonia-related events. Results We observed that a 1°C temperature variation increased the RR of pneumonia events by 1.06-fold (95% confidence interval (CI): 1.03–1.10). A 1°C temperature variation increased the RR by 1.10-fold of the pediatric pneumonia hospital admissions (95% CI: 1.00–1.21) and 1.06-fold of the pediatric pneumonia emergency department visits (95% CI: 1.01-1.10). Extreme cold increased the RR by 1.25-fold of the pediatric pneumonia events (95% CI: 1.07–1.45). A 1°C temperature variation increased the RR of pneumonia events in children by 1.19-fold (95% CI: 1.08–1.32), girls by 1.03-fold (95% CI: 1.02–1.05), and in temperate climate zones by 1.07-fold (95% CI: 1.03–1.11). Moreover, an increase in extreme cold increased the RR of pneumonia events in children by 2.43-fold (95% CI: 1.72–3.43), girls by 1.96-fold (95% CI: 1.29–2.98) and in temperate climate zones by 2.76-fold (95% CI: 1.71–4.47). Conclusion Our study demonstrated that pediatric pneumonia events are more prevalent among children, particularly girls, and individuals residing in temperate climate zones. Climate change represents an emergent public health threat, affecting pediatric pneumonia treatment and prevention. Systematic Review Registration PROSPERO (CRD42022378610).
Cu/ITO-Coated Uncladded Fiber-Optic Biosensor Based on Surface Plasmon Resonance

A surface plasmon resonance (SPR)-based fiber-optic biosensor with bi-layers (copper, ITO) has been experimentally proposed and demonstrated. Benefitting from its high refractive index and unique optoelectronic properties, the additional ITO layer immobilized onto the Cu film can significantly improve its sensing performance. A sensitivity of 4583.4 nm/RIU (refractive index unit) was achieved, with a large enhancement in the figure of merit (FOM) by 61.6% compared with the sample without the ITO layer. Furthermore, the proposed SPR-based biosensor exhibits a bovine serum albumin (BSA) solution concentration sensitivity of 1.907 nm/(mg/mL) and a detection limit of $5.70\,\times \, 10^{-7}$ mg/mL. Significantly, this biosensor shows a sub-microliter-dose sensitivity, with promising biochemical applications such as DNA hybridization, cancer screenings, medicine examination, and environmental engineering.
Elevated Glucose on Admission Was an Independent Risk Factor for 30-Day Major Adverse Cardiovascular Events in Patients with STEMI but Not NSTEMI

Background : The purpose of this study was to evaluate the impact of glucose levels on admission, on the risk of 30-day major adverse cardiovascular events (MACEs) in patients with acute myocardial infarction (AMI), and to assess the difference in outcome between ST-segment elevation myocardial infarction (STEMI) and non-ST-segment elevation myocardial infarction (NSTEMI) patients. Methods : This study was a post hoc analysis of the Acute Coronary Syndrome Quality Improvement in Kerala Study, and 13,398 participants were included in the final analysis. Logistic regression models were used to assess the association between glucose levels on admission and the risk of 30-day MACEs, adjusting for potential confounders. Results : Participants were divided according to the glucose quintiles. There was a positive linear association between glucose levels at admission and the risk of 30-day MACEs in AMI patients [adjusted OR (95% CI): 1.05 (1.03, 1.07), p < 0.001]. Compared to participants with an admission glucose between 5.4 and 6.3 mmol/L, participants with the highest quintile of glucose level ( ≥ 10.7 mmol/L) were associated with increased risk of 30-day MACEs in the fully adjusted logistic regression model [adjusted OR (95% CI): 1.82 (1.33, 2.50), p < 0.001]. This trend was more significant in patients with STEMI ( p for interaction = 0.036). Conclusions : In patients with AMI, elevated glucose on admission was associated with an increased risk of 30-day MACEs, but only in patients with STEMI.
Freezing Stallion Semen—What Do We Need to Focus on for the Future?

Simple Summary Most artificial inseminations in horses currently use cooled semen. It has not been possible to develop a freezing protocol that is suitable for all stallions and all ejaculates. Furthermore, the thawed spermatozoa have a short life, which necessitates depositing the semen in the uterus close to the time of ovulation. Using frozen semen has many potential advantages: there would be greater choice of stallions, the supply of semen is guaranteed, and the amount of antibiotics used would be reduced compared to fresh semen. However, not all ejaculates can be frozen successfully. This review looks at some of the factors that might affect the successful cryopreservation of semen, including stallion nutrition, the frequency of semen collection, the medium that is added to protect the sperm during freezing, the speed of cooling, etc. It would be helpful to identify ejaculates that will freeze well, but as yet, there are no means of identifying them other than carrying out a test freeze. Abstract Artificial insemination (AI) is used frequently in the breeding of sport horses, apart from Thoroughbreds. Most AIs are carried out with cooled semen rather than frozen semen because of the difficulties in identifying a protocol that is suitable for freezing most ejaculates and the necessity to inseminate close to ovulation because of the short life of the thawed spermatozoa. More widespread use of frozen semen would improve biosecurity, allow greater choice of stallions, and offer more flexibility when managing deliveries of semen to the stud. It would even decrease the amount of antibiotics used in semen extenders, since the volume of frozen semen is smaller than when cooled semen is inseminated. However, there is considerable variability in the cryosurvival of spermatozoa from different stallions, leading to the classification of stallions as good or bad freezers. Improvements could be made at the level of stallion nutrition, the semen collection regimen, the extender, the removal of seminal plasma, and the cooling protocol, among others. Stallion sperm membranes are highly susceptible to lipid peroxidation, but research on antioxidants has failed to identify an additive that would benefit all stallions. In the future, biomarkers for sperm freezability could be used as an aid in identifying suitable ejaculates for cryopreservation.
Tourist’s perceptions of crowding at recreational sites: the case of the Perhentian Islands

Abstract This study examines the effects of tourist socio-demographic characteristics and socio-behavioural factors on tourists’ perceived crowding. A questionnaire in both Bahasa Malay and English languages was administered to collect data from tourists visiting the Perhentian Islands, Malaysia. The findings revealed a significant effect for education and age on perceived crowding. In addition, the results highlighted the significant effect of interactions with the local community and satisfaction with accommodation on tourists’ perceived crowding. However, the results could not support a significant effect for gender or the perceived social impacts of tourism on the perception of crowding. Given the paucity of studies investigating the factors contributing to perceived crowding, the findings of this study make a significant contribution to the literature. Moreover, this study has a number of practical implications for the local authorities.
Ecological gradients caused by land-use change and land management alter soil microbial biomass and community functioning in a tropical mountain rainforest region of southern Ecuador

Global change phenomena, such as forest disturbance and land-use change significantly affect elemental balances as well as the structure and function of terrestrial ecosystems. However, the importance of shifts in soil nutrient stoichiometry for the regulation of belowground biota and soil food webs have not been intensively studied for tropical ecosystems. In the present account, we examine the effects of land-use change and soil depth on soil and microbial stoichiometry along a land-use sequence (natural forest, pastures of different ages, secondary succession) in the tropical mountain rainforest region of southern Ecuador. Furthermore, we analyzed (PLFA-method) whether shifts in the microbial community structure were related to alterations in soil and microbial stoichiometry. Soil and microbial stoichiometry were affected by both land-use change and soil depth. After forest disturbance, significant decreases of soil C:N:P ratios at the pastures were followed by increases during secondary succession. Microbial C:N ratios varied slightly in response to land-use change, whereas no fixed microbial C:P and N:P ratios were observed. Shifts in microbial community composition were associated with soil and microbial stoichiometry. Strong positive relationships between PLFA-markers 18:2n6,9c (saprotrophic fungi) and 20:4 (animals) and negative associations between 20:4 and microbial N:P point to land-use change affecting the structure of soil food webs. Significant deviations from global soil and microbial C:N:P ratios indicated a major force of land-use change to alter stoichiometric relationships and to structure biological systems. Our results support the idea that soil biotic communities are stoichiometrically flexible in order to adapt to alterations in resource stoichiometry.
Environmental Performances of Forest Products Industry Participating in Global Value Chain --Taking the Carbon Emissions of China’s Wood Processing and Paper Printing and Publishing Industry as an Example

Compared with the world’s major forest products trading countries, China’s forest products industry still has relatively high carbon emission intensity. Based on the environment Kuznets curve model of the global value chain, the paper uses the MRIO model to decompose the carbon emissions of China, focusing on the carbon emission intensity of the forest products industry, and calculating the value chain participation index and value chain position indicators of the forest products industry. It is found that both the wood processing industry and the paper printing and publishing industry value chain participation have a significant impact on carbon emission. Because of great significance to the energy conservation and emission reduction of China’s forest products industry, policy implications are to improve the status of division of labor in the value chain and to achieve green economic development by absorbing, developing and adopting more green technologies.
Knowledge Distillation via Multi-Teacher Feature Ensemble

This letter proposes a novel method for effectively utilizing multiple teachers in feature-based knowledge distillation. Our method involves a multi-teacher feature ensemble module for generating a robust feature ensemble and a student-teacher mapping module for bridging the student feature and ensemble feature. In addition, we utilize separate optimization, where the student's feature extractor is optimized under distillation supervision while its classifier is obtained through classifier reconstruction. We evaluate our method on the CIFAR-100, ImageNet and MS-COCO datasets, and the experimental results demonstrate its effectiveness.