Browse Articles

Association of the TTN, PDK4, and RNF207 mutations with dilated cardiomyopathy in Dobermanns from the United Kingdom

A missense mutation in the titin gene (TTN) and a splice-site mutation in the pyruvate dehydrogenase kinase 4 gene (PDK4) have been associated with dilated cardiomyopathy (DCM) in Dobermanns from the United States. Additionally, a missense mutation in the gene RNF207 has been reported in association with DCM from a European Dobermann cohort. Based on this we examined the association of these variants with DCM in United Kingdom (UK) Dobermanns. We hypothesized that the TTN and PDK4 gene variants would not be associated with DCM in UK Dobermanns and that there would be an association between the RNF207 mutation and DCM. We included 74 client owned dogs (30 control dogs and 44 dogs with DCM) in the study. Allele frequencies for each variant were calculated. Chi-square testing was used to assess for differences in allele frequencies and genotype proportions between groups. Overall allele frequency in this cohort was 35% for the TTN variant, 18% for the PDK4 variant, and 37% for the RNF207 variant. There was no difference in allele or genotype frequencies between control and DCM dogs for TTN or PDK4 (p =  0.79 for both allele frequencies, p =  0.91 for TTN and p =  0.78 for PDK4 genotype frequencies). There was a significant difference in the allele frequencies of the RNF207 variant between DCM cases and controls (OR 2.4 (95% CI 1.07 – 5.15), p =  0.03) and genotype frequencies for RNF207, with a homozygous genotype found almost exclusively in DCM dogs (p =  0.034). We conclude that the previously reported RNF207 variant appears associated with DCM in UK Dobermanns, but there was no association with the previously reported TTN or PDK4 mutations. This is important when considering selective breeding in different populations of Dobermanns. However, the small sample size may impact the generalizability of the results.

Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product

Determinants of oral health-related quality of life in orthodontic aligner wearers: A cross-sectional analysis

Oral health-related quality of life (OHRQoL) is a critical measure for assessing the impact of orthodontic treatments, including aligners. This study aimed to investigate factors associated with OHRQoL among orthodontic aligner wearers. This cross-sectional study included 34 participants. OHRQoL was evaluated using the Oral Health Impact Profile (OHIP-14), and malocclusion severity was measure with the Dental Aesthetic Index (DAI). Data on sex, age, family income, and treatment duration were collected. Bivariate analyses were conducted to examine associations between independent variables and OHRQoL. Effect sizes (ES) were calculated to indicate the magnitude of associations, categorized as small, moderate, or large. Poisson regression was performed to identify factors associated with OHRQoL, reporting beta coefficients (Coef.) and standard errors (SE). Statistical significance was set at p < 0.05. The mean age of participants was 33.8 years. In the psychological discomfort subscale, males reported higher scores, with a moderate ES. Family income showed moderate-to-large ES, with individuals from families earning < 5 wages reporting higher scores. Higher DAI scores were significantly associated with poorer OHRQoL across the following subscales: functional limitation (p = 0.002), physical pain (p = 0.001), physical disability (p = 0.005), psychological disability (p = 0.003), social disability (p = 0.001), handicap (p = 0.037), and the total score (p = 0.001). Younger individuals also reported significantly higher scores on the handicap subscale (p = 0.007). Younger individuals and those with more severe malocclusion experienced poorer OHRQoL during treatment with orthodontic aligners. Sex and family income also significantly influenced OHRQoL outcomes.

Clinically available predictors of obstructive sleep apnoea requiring treatment in type 2 diabetes patients in primary care

Abstract Obstructive sleep apnoea is a common yet frequently underdiagnosed condition in patients with type 2 diabetes, particularly in primary care. Early detection is important, as untreated sleep apnoea may contribute to worsened metabolic control and increased cardiovascular risk. This study evaluated 164 patients with type 2 diabetes and found that 75% had obstructive sleep apnoea, with 31% requiring treatment for moderate to severe cases. Predicting obstructive sleep apnoea for which medical treatment is indicated (i.e., moderate to severe OSA) proved challenging, as typical clinical symptoms and most other readily available clinical parameters proved to be unreliable indicators. However, central fat distribution, indicated by a higher waist-to-hip ratio (odds ratio 3.31, 95% confidence interval 1.91–6.25, p = 0.0032), and the presence of albuminuria (odds ratio 7.46, 95% confidence interval 1.99–27.89, p = 0.0244), emerged as significant predictors, with albuminuria representing a novel finding. Screening tools such as the STOP-Bang questionnaire had limited predictive accuracy. These findings highlight the importance of targeted screening in patients with type 2 diabetes, particularly those with central fat distribution or albuminuria, to reduce underdiagnosis and potentially improve treatment outcomes.

The ‘quantum’ principle that says why atoms are as they are

An improved ViT model for music genre classification based on mel spectrogram

Automating the task of music genre classification offers opportunities to enhance user experiences, streamline music management processes, and unlock insights into the rich and diverse world of music. In this paper, an improved ViT model is proposed to extract more comprehensive music genre features from Mel spectrograms by leveraging the strengths of both convolutional neural networks and Transformers. Also, the paper incorporates a channel attention mechanism by amplifying differences between channels within the Mel spectrograms of individual music genres, thereby facilitating more precise classification. Experimental results on the GTZAN dataset show that the proposed model achieves an accuracy of 86.8%, paving the way for more accurate and efficient music genre classification methods compared to earlier approaches.

Contributions of interspecific hybrids to genetic variability in Glycyrrhiza uralensis and G. glabra

High resolution descriptors for UAV mapping in biodiversity conservation – A case study of sandy steppe habitat renewal

Due to the large-scale disappearance of grasslands there is an urgent need for revitalization. It calls for consistent and accessible monitoring and mapping plans, and an integrated management approach. However, revitalization efforts often focus solely on the vegetation component, and skip the link to other animal species that perform vital functions as ecosystem engineers and umbrella species. In this study, we combine an in-situ standard phytocoenological survey with an UAV-based technology in the effort to improve the monitoring and mapping of the sandy steppe habitat of the European ground squirrel (Spermophilus citellus; EGS), undergoing revitalization in the northern Serbia. It is a model organism of an animal species that enables identifying habitat quality and quantity indicators to understand the broader implications of the ecosystem revitalization efforts on the wildlife populations. The proposed approach tested whether the commercially available RGB sensor and a relatively high flight height of the UAV have discriminative capacity to aid site managers by mapping identified steppe development stages (specific plant assemblages, reflecting different habitat types). Thus, a novel set of high-resolution image descriptors that are capable of discriminating plant mixtures corresponding to Fallow land, Forest steppe and shrubs, Young steppe I and II, was proposed. Despite high resolution imaging, the method solves a challenging problem of UAV vegetation mapping in the case of limited spectral and spatial information in the image (by using only RGB camera and multitemporal approach). Although the lack of visual information that would allow identification of individual plant parts and shapes prevented the use of usual object-based image analysis, proposed pixel-based descriptors and feature selection were able to provide the extent of the targeted areas and their compositional carriers. Presented holistic approach enables implementation of effective management strategies that support the entire ecological community.

The association between aldosterone and lipid profiles in patients with primary aldosteronism

Shortcoming of ypStage staging system: Lack of differentiation for preoperative treatment

The eighth edition of the AJCC staging manual initially proposed the ypTNM staging system, which was specifically designed to assess the staging and predict the prognosis of cancer patients undergoing preoperative treatment. Nevertheless, it remains unclear whether this staging system is an accurate predictor of outcomes for cancer patients undergoing different preoperative treatments. The clinical and pathological data of gastric cancer patients who received preoperative treatment and subsequent curved tented gastrostomy were obtained from the Surveillance, Epidemiology, and End Results database. A comparison of survival rates was conducted between patients with the same ypStage staging who received preoperative chemotherapy or chemoradiotherapy, using the Kaplan-Meier method. Additionally, a Cox regression analysis was performed to identify the factors influencing survival following preoperative treatment. A total of 202 patients were included in the study. The results demonstrated a statistically significant difference (p <  0.05) in survival between patients who received preoperative chemoradiotherapy and those who received preoperative chemotherapy in ypStage II or III patients.Cox regression analysis revealed that ypT, ypN and ypStage were associated with OS, but were not independent prognostic factors following gastrectomy. The survival of gastric cancer patients who are classified in the same ypStage stage but who receive disparate preoperative treatments is not analogous. The eighth edition staging system remains in need of further refinement to ensure accurate prediction of prognosis following diverse preoperative therapeutic regimens.

Roles of C-reactive protein and LOX-1 on cancer and myeloid-derived suppressor cells in the progression of uterine cervical cancer

Who’s likely to wake up from a coma? Brainwaves provide a clue

Exploring prehabilitation interventions for patients with gynaecological cancer undergoing radiotherapy: A scoping review

Purpose Radiotherapy imposes a significant physiological and psychological burden on gynaecological cancer patients. Prehabilitation is being increasingly used to prepare individuals for cancer treatment and improve their well-being and resilience. Whilst prehabilitation has demonstrated benefit for individuals undergoing cancer surgery, the structure, role and implementation of prehabilitation prior to radiotherapy are poorly defined and relatively unexplored. This scoping review aims to provide a comprehensive overview of the current literature regarding prehabilitation interventions for individuals with gynaecological cancer undergoing radiotherapy. Methods This review was conducted following the gold-standard Joanna Briggs Institute guidelines for scoping reviews. Literature searches were completed in October 2024 across: the Allied and Complementary Medicine Database; British Nursing Index; Cumulative Index to Nursing and Allied Health Literature; Cochrane library (Controlled trials and systematic reviews); Embase; Medical Literature Analysis and Retrieval System Online; and the Psychological Information Database. Grey literature searches were conducted via Google Scholar, Overton.io, and Trip Pro Medical Database. Results Ninety records met the inclusion criteria, pertaining to 56 studies. Cervical cancer was the most represented gynaecological cancer type across studies. A small number of multimodal prehabilitation studies were identified (n = 4). Studies evaluating unimodal interventions were more common, with nutritional interventions (n = 24) being the most frequent, followed by psychological (n = 22) and physical exercise (n = 6) interventions. There was considerable variation across studies in respect to intervention initiation, duration, delivery and outcome measures. Conclusions The physiological and psychological impacts of cancer diagnosis and treatment are closely entwined. Further development of multimodal prehabilitation to cohesively address these is an important area for future research. Studies evaluating exercise interventions are relatively unexplored in this patient population and the potential barriers to engagement must be considered. Future research should focus on complete and transparent reporting of interventions, with input from those with lived experience, and adopting a standardised set of outcome measures reported across all trials.

Exploring support provision for recovery from substance use disorder among members of a sober active community

Correction: The antimicrobial activity of an antiseptic soap against Candida Albicans and Streptococcus Mutans single and dual-species biofilms on denture base and reline acrylic resins

1, 4-benzodioxan-substituted Thienyl chalcone derivatives as novel reversible inhibitors of human monoamine oxidase B with anti-neuroinflammatory activity

Research on the Polishing Process of Wolter-I Type Grazing Incidence Mirrors

As the demand for solar X-ray observation devices continues to rise, the Wolter-I type grazing incidence mirror has emerged as a critical component in these instruments, particularly for high-precision imaging. This mirror efficiently focuses X-rays, enabling astronomers to detect fainter celestial signals. It plays a key role in providing essential data for understanding the origin and evolution of the universe. The operating principle of the Wolter-I type grazing incidence mirror is based on grazing incidence reflection. This reflection guides X-rays to a focal point through a specific surface structure, enabling high-resolution imaging. This paper presents the design of a super-precision optical processing system for the Wolter-I type mirror. The system features a coaxial Confocal structure, consisting of a rotating parabolic surface and a rotating hyperbolic surface. It also includes a radial adjustment fixture and an automatic polishing fluid supply device. The paper outlines the imaging principles of the Wolter-I mirror, analyzes the impact of surface shape accuracy on imaging performance, and selects microcrystalline glass as the mirror substrate. Using the custom-designed processing system, the rough-turned workpiece undergoes several steps. After diamond wheel grinding, the workpiece is subjected to 160 hours of rough polishing. It then undergoes 720 hours of fine and super-fine polishing, using cerium oxide polishing fluids with particle sizes of W2, W1, and W0.8, respectively. The final surface shape accuracy of the mirror is characterized by a peak-to-valley (PV) value of 253 nm, a root mean square (RMS) value of 3.5 nm, and a root mean square roughness (Rq) of 4.6 nm. These values meet the requirements for composite extreme ultraviolet-soft X-ray telescopes. Experimental results show that the designed super-precision optical processing system effectively improves surface shape accuracy. It is well-suited for processing the unique internal surfaces of Wolter-I type grazing incidence mirrors. This system enhances the mirror's imaging performance and lays a solid foundation for future high-resolution X-ray astronomical observations. Future research will focus on optimizing the processing techniques further, exploring the impact of different materials on imaging quality, and developing more advanced optical systems to meet emerging observational needs.

Effects of racemic anisodamine in combination with orthokeratology and defocus incorporated multiple segment spectacle lenses for myopia control in adolescents

Indications and endoscopic findings of upper gastrointestinal diseases in Africa: A systematic review & meta-analysis

Background Upper gastrointestinal endoscopy (UGIE) plays a crucial role in diagnosis of gastrointestinal pathology. Therefore, this systematic review and meta-analysis aimed to assess the indications and findings UGIE, while exploring their regional distribution and temporal trend across Africa. Methods Systematic Reviews and Meta-Analysis of pooled prevalence for various indications and endoscopic findings were analyzed from multiple studies in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Results Seventeen common indication were identified. Of these dyspepsia was the most prevalent indication 52.4%, followed by abdominal pain 17.4%, hematemesis 13.9%, and GERD symptoms 11.2%. Other indications included dysphagia 9.2%, vomiting 9.2, odynophagia 3.5%, and melena 6.2% were identified. Rare indications such as anemia 2.3%, weight loss 2.6% were also reported. Regarding endoscopic findings, thirty-one common findings were identified by UGIE. Gastritis (33.3%) was the most common findings followed by normal findings 21.8%, the third most common was PUD 15.1%, particularly duodenal ulcer (10%), gastric cancer 3.3% were also prevalent in stomach. Related to esophageal findings, GERD 9.6%, esophagitis 8.3%, esophageal varices 7.2% and esophageal cancer 6.1% were identified. Regional difference were apparent, with esophageal cancer prevalent in Eastern (10%) and Southern Africa (10%). Gastritis (45%) and GERD (18%) were more apparent and common in Northern Africa. Even though it is not significant, temporal trends showed an increase in prevalence of gastritis (26 to 36%) and esophagitis (6 to 10%) from 2000-2010 to 2011-2024. Conclusion Most UGIE indications resulted significant UGIT pathology. However, this analysis did not assess age, sex based indications and findings and their relationship among specific indications and UGIE findings. So, future analysis should focus on age and sex based difference in indications and findings, and explore their relationship among specific indication and corresponding UGIE findings.

Diffusion MRI with double diffusion encoding and variable mixing times disentangles water exchange from transient kurtosis

Abstract Double diffusion encoding (DDE) makes diffusion MRI sensitive to a wide range of microstructural features, and the acquired data can be analysed using different approaches. Correlation tensor imaging (CTI) uses DDE to resolve three components of the diffusional kurtosis: isotropic, anisotropic, and microscopic kurtosis. The microscopic kurtosis is estimated from the contrast between single diffusion encoding (SDE) and parallel DDE signals at the same b-value. Another approach is multi-Gaussian exchange (MGE), which employs DDE to measure exchange. Sensitivity to exchange is obtained by contrasting SDE and DDE signals at the same b-value. CTI and MGE exploit the same signal contrast to quantify microscopic kurtosis and exchange, and this study investigates the interplay between these two quantities. We perform Monte Carlo simulations in different geometries with varying levels of exchange and study the behaviour of the parameters from CTI and MGE. We conclude that microscopic kurtosis from CTI is sensitive to the exchange rate and that intercompartmental exchange and the transient kurtosis of individual compartments are distinct sources of microscopic kurtosis. In an attempt to disentangle these two sources, we propose a heuristic signal representation referred to as tMGE (MGE incorporating transient kurtosis) that accounts for both effects by exploiting the distinct signatures of exchange and transient kurtosis with varying mixing time: exchange causes a slow dependence of the signal on mixing time while transient kurtosis arguably has a much faster dependence. We find that applying tMGE to data acquired with multiple mixing times for both parallel and orthogonal DDE may enable estimation of the exchange rate as well as isotropic, anisotropic, and transient kurtosis.