bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epigenome-wide association study of Chinese monozygotic twins identifies DNA methylation loci associated with estimated glomerular filtration rate
Authors: Qi Xueting , Wang Jingjing , Wang Tong , Wang Weijing , zhang dongfeng 
Published: December 2024

Abstract

Background
DNA methylation (DNAm) has been shown in multiple studies to be associated with the estimated glomerular filtration rate (eGFR). However, studies focusing on Chinese populations are lacking. We conducted an epigenome-wide association study to investigate the association between DNAm and eGFR in Chinese monozygotic twins.
Methods
Genome-wide DNAm level was detected using Reduced Representation Bisulfite Sequencing test. Generalized estimation equation (GEE) was used to examine the association between Cytosine-phosphate-Guanines (CpGs) DNAm and eGFR. Inference about Causation from Examination of FAmiliaL CONfounding was employed to infer the causal relationship. The comb-p was used to identify differentially methylated regions (DMRs). GeneMANIA was used to analyze the gene interaction network. The Genomic Regions Enrichment of Annotations Tool enriched biological functions and pathways. Gene expression profiling sequencing was employed to measure mRNA expression levels, and the GEE model was used to investigate the association between gene expression and eGFR. The candidate gene was validated in a community population by calculating the methylation risk score (MRS).
Results
A total of 80 CpGs and 28 DMRs, located at genes such as OLIG2, SYNGR3, LONP1, CDCP1, and SHANK1, achieved genome-wide significance level (FDR < 0.05). The causal effect of DNAm on eGFR was supported by 12 CpGs located at genes such as SYNGR3 and C9orf3. In contrast, the causal effect of eGFR on DNAm is proved by 13 CpGs located at genes such as EPHB3 and MLLT1. Enrichment analysis revealed several important biological functions and pathways related to eGFR, including alpha-2A adrenergic receptor binding pathway and corticotropin-releasing hormone receptor activity pathway. GeneMANIA results showed that SYNGR3 was co-expressed with MLLT1 and had genetic interactions with AFF4 and EDIL3. Gene expression analysis found that SYNGR3 expression was negatively associated with eGFR. Validation analysis showed that the MRS of SYNGR3 was positively associated with low eGFR levels.
Conclusions
We identified a set of CpGs, DMRs, and pathways potentially associated with eGFR, particularly in the SYNGR3 gene. These findings provided new insights into the epigenetic modifications related to the decline in eGFR and chronic kidney disease.
Epigenome-wide association study for dilated cardiomyopathy in left ventricular heart tissue identifies putative gene sets associated with cardiac development and early indicators of cardiac risk
Authors: Tan Konstanze , Tay Darwin , Tan Wilson , Ng Hong Kiat , Wong Eleanor , Morley Michael P , Singhera Gurpreet K , Lee Chang Jie Mick , Jain Pritesh R , Tai Fei Li , Hanson Paul J , Cappola Thomas P , Margulies Kenneth B , Foo Roger , Loh Marie 
Published: December 2024

Abstract

Background: Methylation changes linked to dilated cardiomyopathy (DCM) affect cardiac gene expression. We investigate DCM mechanisms regulated by CpG methylation using multi-omics and causal analyses in the largest cohort of left ventricular tissues available.
Methods: We mapped DNA methylation at ~850,000 CpG sites, performed array-based genotyping and RNA sequencing in left-ventricular tissue samples from failing and non-failing hearts across two independent DCM cohorts (discovery n=329, replication n=85). Summary data-based Mendelian Randomization (SMR) was applied to explore the causal contribution of sentinel CpGs to DCM. Fine-mapping of regions surrounding sentinel CpGs revealed additional signals for cardiovascular disease risk factors. Coordinated changes across multiple CpG sites were examined using weighted gene correlation network analysis (WGCNA).
Results: We identified 194 epigenome-wide significant CpGs associated with DCM (discovery P<5.96E-08), enriched in active chromatin states in heart tissue. Amongst these, 183 sentinel CpGs significantly influenced the expression of 849 proximal genes (±1Mb). SMR suggested the causal contribution of two sentinel CpGs to DCM and 36 sentinel CpGs to the expression of 43 unique proximal genes (P<0.05). Colocalization analyses indicated that a single causal variant may underlie the methylation-gene expression relationship for three sentinel CpGs. Fine-mapping revealed additional signals linked to cardiovascular traits including hsCRP and blood pressure. Co-methylation modules were enriched in gene sets related to cardiac physiological and pathological processes and their corresponding transcriptional regulators, as well as in novel transcriptional regulators whose cardiac relevance is yet to be determined.
Conclusions: Using the largest series of left ventricular tissue to date, this study investigates the causal role of cardiac methylation changes in DCM and suggests targets for experimental studies to probe DCM pathogenesis.
Assessment of the agronomic value of digestate from cashew nut shell and cow dung anaerobic digestion
Authors: Nikiema Mahamadi , Somda Marius K. , Ouili Amidou S. , Ouattara Assièta , Compaoré Cheik Omar Tidiane , Barsan Narcis , Sawadogo Joseph B. , Maiga Ynoussa , Mogmenga Iliassou , Ouattara Cheik A. T. , Ouattara Aboubakar S. 
Published: December 2024

Abstract

This study investigated agronomic characteristics of digestates from cashew nut shell and cow dung anaerobic digestion. General characteristics and agronomic value of digestates were determined using standard methods. Gaseous emissions (biogas, CH4, CO2) were evaluated. Microbiological quality of digestates was evaluated, as well as phytotoxicity on maize, okra, tomato and lettuce seeds. Higher conductivity indicated a greater potential for salinity to affect germination and plant growth. High C/N ratio and degree of humification greater than 0.7 are indicative of immature digestate. Total nitrogen, organic nitrogen and phosphorus contents in g/Kg were 11.26, 0.49 and 5.35 for cashew shell digestate and 18.15, 17.12 and 0.16 for cow dung digestate, respectively. Potassium content was 0.32 and 0.98 g K/Kg in cashew shell and cow dung digestate, respectively. Mineral nitrogen content of cashew nut shell digestate was 0.19 g NH4+/kg, 1.28 g NO2−/kg, and 0.0016 g NO3−/kg. These characteristics showed amending and fertilizing effect of digestates. Physical parameters indicate digestate can improve soil structure. Both digestates are significant source of greenhouse gas. Microbiological analysis revealed spore-forming bacteria and coliforms, with proportions that are acceptable for spreading. Germination test on okra, tomato and lettuce seeds indicated high phytotoxicity. Maize showed significant results for seed germination, root elongation, germination index and germination speed with values of 100%, 100%, 118.63% and 67.21% respectively. The study indicates that digestates present root growth-promoting properties that can be advantageous for plant development. Digestates could be improved by an integrated system in which digestates are composted downstream of anaerobic digestion.
Decreases in the robustness of regional food webs to sequential species extinctions following habitat loss
Authors: Chacko Merin Reji , Albouy Camille , Altermatt Florian , Boussange Victor , Brändle Martin , Farwig Nina , Gossner Martin , Ho Hsi-Cheng , Joss Alain , Neff Felix , Pellissier Loïc 
Published: December 2024

Abstract

In the face of escalating global environmental changes, understanding the robustness of ecological networks against sustained species losses is paramount to devising effective biodiversity conservation strategies. To explore the impacts of habitat-specific species losses on large-scale food web robustness, we used a trophic metaweb of 8,846 vertebrate, invertebrate and plant species and 466,255 interactions across Switzerland. We inferred twelve regional multi-habitat food webs, two for each of the six biogeographic regions, further divided into two elevation groupings. We simulated non-random species extinction scenarios on these regional food webs, focusing on broad habitat types and regional species abundances, and computed measures of network robustness. Targeted removal of species associated with specific habitat types, particularly wetlands, resulted in a higher network fragmentation and accelerated network collapse compared to random species removals. The simulations also reveal that the initial loss of common species significantly destabilised the network more than the loss of rare species across all biogeographic regions and elevation groupings. These findings underscore the critical need for integrated conservation strategies that maintain a diverse mosaic of habitat in a landscape, given the complex interdependencies within and across habitat types, to mitigate the cascading effects of species loss.
Endoscopic Microvascular Decompression for Primary Trigeminal Neuralgia: Surgical Experience and Early Outcomes
Authors: Bao Feng , Xin Chai , Yi Yu , Hao Xia , Wu Junyi , Yin Ren , Yu PeiMin , Zhu Yufu 
Published: December 2024

Abstract

Objective
This study aimed to investigate the clinical efficacy and early outcomes of endoscopic microvascular decompression (MVD) for primary trigeminal neuralgia (TN) and provide clinical experience for the application of full endoscopic techniques in MVD surgery.
Methods
Clinical data of 63 patients who underwent endoscopic MVD surgery at our institution between January 2020 and January 2023 were collected. The study analyzed the severity of facial pain using the Barrow Neurological Institute (BNI) Pain Intensity Score and evaluated the clinical outcomes and application of endoscopic MVD.
Results
Postoperatively, 59 patients (93.7%) achieved complete pain relief with a BNI score of I. Four patients (6.3%) had residual pain, managed effectively with medication (BNI score III). Recurrence was observed in 3 patients (4.8%) during the 12–36 months follow-up, with 2 patients (3.2%) scoring II and 1 patient (1.2%) scoring III on the BNI scale. Postoperative complications occurred in 6 patients (9.5%), including 3 cases of aseptic meningitis (4.8%), 2 cases of low-pressure syndrome (3.2%), and 1 case of hearing loss (1.6%). There were no fatalities, strokes, hearing impairments, facial paralysis, or other complications.
Conclusion
Endoscopic microvascular decompression for primary trigeminal neuralgia is safe and feasible. The wide-angle and multi-angle views and close observation are technical features and advantages of endoscopic surgery. The identification and confirmation of neurovascular compression are key to surgical success, but the lack of stereopsis and blind spots behind the scope need to be addressed and overcome.
Awareness and attitude among medical students towards Premarital screening and genetic counselling with special focus on sickle cell disease.
Authors: Raut Prachi , Gawande Avinash , Narlawar Uday 
Published: December 2024

Abstract

Introduction: Preventive genetic services based on population screening are now an integral part of maternal and child health programs in many parts of the world. Premarital screening for genetic diseases is superior to neonatal screening since the former is primary prevention while the latter is secondary or tertiary prevention. This study is an initial step to assess awareness of SCD and preventive measures among budding medical professionals in the context of the recently enrolled National Sickle Cell Anemia Elimination Mission.
Objective: 1. To evaluate the awareness about the Premarital Screening and Genetic Counselling (PMSGC) with a special focus on Sickle Cell Disease (SCD). 2. To evaluate the attitude of medical students toward the PMSGC.
Methodology: A cross-sectional study was conducted among 200 undergraduate medical students. Self- administered questionnaire was used to collect data after validating and pilot testing on 30 participants. Data was analysed using Jamovi 2.2.21.
Result: In our current study, we found that our participants (73.5) had adequate awareness of the basics of genetic testing and the majority of them were aware of the comprehensive nature of counselling services (73 % aware of prenatal counselling). Regarding attitudes, 40 individuals (20%) exhibited negative attitudes, whereas 160 individuals (80%) showed positive attitudes.However, these proportions of awareness and attitudes are relatively low compared to findings from countries that already have established preventive health programs for Hemoglobinopathies.
Prolonged Disease Remission of the Chronic Immunological Skin Disorder Hidradenitis Suppurativa with Bacteriophage Therapy
Authors: Bens Lene , Vanhoutvin Tine , Green Sabrina , Gorivale Sayali , Almeida Madalena , Romaniuk Filip , Hillary Tom , Jansen Daan , Matthijnssens Jelle , Vermeire Severine , Sabino João , Depypere Melissa , Devolder David , Spriet Isabel , Devabeye Yves , De Munter Paul , Onsea Jolien , Metsemakers Willem-Jan , Noort Vera van , Pirnay Jean-Paul , Merabishvili Maya , Wagemans Jeroen , Lavigne Rob , Laethem An Van 
Published: December 2024

Abstract

Hidradenitis suppurativa (HS) is a chronic skin disease in which the acute development of noduli, abscesses and in a later stage fistula’s remains difficult to control, despite a wide range of recommended treatment options including immunomodulatory biologicals, surgical intervention and antibiotics. Besides being painful, associated lesions have an extensive impact on the quality of life. While HS is primarily an immune-mediated inflammatory disease, the skin microbiota plays a key role in its pathogenesis with pathogenic bacterial colonization of lesions observed. Bacteriophages, the viruses of bacteria, were used to treat a 52-year-old female HS patient with re-current colonization of lesions with Staphylococcus aureus. Phage therapy resulted in complete removal of lesions with a flare-free period of six months, along with a substantial improvement in the patient’s quality of life. The deployed experimental framework and the gained clinical experience will be valuable for future HS phage therapy research.
The prognostic value of Barthel index for mortality in older patients with hypertrophic cardiomyopathy: Longitudinal Prediction Study
Authors: Song Changpeng , Zheng Xinxin , Lu Jie , Guo Xinli , Cui Jingang , Wang Shuiyun , Huang Xiaohong 
Published: December 2024

Abstract

Background
Impairment of activities of daily living (ADL), assessed according to the Barthel index (BI) score, is common and associated with poor outcomes in older population. The association between impairment of ADL and the prognosis in older patients with hypertrophic myocardiopathy (HCM) has not been well studied.
Methods
A total of 351 older patients with HCM in our center between January 2014 and December 2017 were enrolled in this study. The clinical profile and outcomes were evaluated. According to BI score, patients were divided into three groups: total/severe dependency in ADL (≤ 60) vs. moderate dependency (65–90) vs. slight dependency/independency (95–100). Kaplan-Meier analysis and Multivariable Cox regression models were conducted to test the prognostic value of BI in older patients with HCM.
Results
27(8%) patients with BI ≤ 60 vs. 48(14%) patients with BI 65–90 vs. 276(78%) patients with BI 95–100. During a follow-up of 65 ± 21 months, 72 patients died (50 cardiovascular deaths). The 5-year survival free from all-cause mortality was 48.2% (95% CI 28.7–65.2%) in patients with BI ≤ 60, 62.0% (95% CI 46.7–74.2%) in patients with BI 65–90, and 89.7% (95% CI 85.5–92.8%) in patients with BI 95–100. The 5-year survival free from cardiovascular mortality was 54.4% (95% CI 33.7–71.1%) in patients with BI ≤ 60, 69.0% (95% CI 53.2–80.4%) in patients with BI 65–90, and 94.0% (95% CI 90.4–96.3%) in patients with BI 95–100. BI was a significantly associated with all-cause mortality (hazard ratio 0.978, 95% CI 0.968–0.989, P<0.001) and cardiovascular mortality (hazard ratio 0.975, 95% CI 0.963–0.987, P<0.001).
Conclusions
Impairment in ADL was associated with poor outcomes in older patients with HCM, routine assessment of ADL using BI may help in decision-making and health care planning for older patients with HCM.
Assessment of the global burden of esophageal cancer from 1990 to 2021 and the forecasted global burden in 2050: Results from the Global Burden of Disease Study 2021
Authors: Zheng Tong , Wu Jize , Chen Xiaoming , Yang Zhichang , Lu Wenyuan , Yang Yang 
Published: December 2024

Abstract

Background
Esophageal cancer is a leading cause of cancer-related incidence and mortality globally. This study evaluates the global burden of esophageal cancer from 1990 to 2021 across various regions and populations, examines associated risk factors, and projects future trends through 2050.
Methods
We extracted esophageal cancer data from the Global Burden of Disease Study 2021, including incidence, deaths, Disability-Adjusted Life Years (DALYs), age-standardized rates (ASRs), and attributable risk factors from 1990 to 2021, stratified by gender and region. Regression analyses were employed to evaluate trends in esophageal cancer burden across regions and populations, while Bayesian age-period-cohort models were used to forecast future trends.
Results
Globally, the incidence of esophageal cancer rose from 354,731 cases (95% UI: 388,914.46–317,512.39) in 1990 to 576,529 cases (95% UI: 645,648.46–509,492.07) in 2021, while deaths increased from 356,263 to 538,602 during the same period. The age-standardized incidence rate decreased from 8.86 (95% UI: 9.69–7.96) to 6.65 (95% UI: 7.45–5.88) per 100,000, the age-standardized mortality rate decreased from 9.02 (95% UI: 9.87–8.11) to 6.25 (95% UI: 7.00–5.53) per 100,000. By 2021, incidence among the elderly population (> 80 years) had increased, particularly in high Social-Demographic Index (SDI) regions. Key risk factors contributing to death and DALYs from esophageal cancer include smoking, alcohol use, low vegetable intake, and chewing tobacco. The global burden of esophageal cancer is projected to continue increasing through 2050.
Conclusions
The burden of esophageal cancer varies significantly across regions, populations, and age groups. Although ASRs have decreased over recent decades, esophageal cancer remains a leading cause of incidence and death, particularly in high-middle SDI regions such as East Asia and sub-Saharan Africa. The identification of attributable risk factors underscores the need for targeted prevention strategies. Absolute incidence, death, and Disability-Adjusted Life Years are projected to rise due to population growth and aging. Future efforts should prioritize precision interventions and the reduction of known risk factors to mitigate the global burden.
Enzymatic pre-valorization of paddy straw for bio-delignification and silica reduction: Pioneer step towards cleaner production
Authors: Kaur Daljeet , Mor Nitu , Kaur Prabhjot , Battan Bindu , Singh Amarjit , Sharma Jitender 
Published: December 2024

Abstract

The convoluted structure of rice straw containing high silica in cell wall, sturdy bonding of lignin with fibers, massive fine fractions, strong cellulose crystallinity and other concomitant factors are the major constraints for rice straw applications in various sectors. The conversion of rice straw into treasure requires essential initial treatment so as to separate lignin, reduce silica content and dissolving its hemicellulosic fibers. Present study focused on enzymatic pretreatment of rice straw with cellulase (CTec2), xylopectinase, laccase and silicases to reduce lignin, ash and silica without causing depletion of long chain fibers. The process conditions like dose, pretreatment time, temperature and pH for every enzymatic pretreatment were optimized. The results obtained with all enzymes were significant but highest reduction of 26.5% in lignin and 20.8% in ash content of rice straw was approached during laccase pretreatment. After that, the major reduction in silica i.e. 19.7% during silicases pretreatment was achieved at optimized conditions. CTec2 and xylopectinase were also effective during pretreatments but showed dramatic impact on fibrous composition. The study revealed that a proficient two stage enzymatic pretreatment process based on silicase and laccase for rice straw can be developed using present results to add value to this agro-waste.
Evaluating Instructor Feedback Practices in a Clinical Learning Environment in a Developing World Setting; a Qualitative Study.
Authors: Tumwine Moreen , Mucunguzi Boaz , Walker Guti , Munabi Ian , Mubuuke Aloysious , Kiguli Sarah 
Published: December 2024

Abstract

Background
Feedback is an essential component in medical education. Delivering timely and relevant feedback to individual students enhances workplace-based learning. There is increasing evidence that current feedback practices are not fit for purpose. However, there’s paucity of data on studies evaluating how feedback is given by tutors to students in developing countries. The study sought to evaluate the feedback practices of tutors of clinical medicine students in the facilitation of workplace learning.
Methodology
It was a qualitative study design. The study was conducted at Kampala International University in Tanzania, KIUT. The study participants were clinical medicine (14) tutors and (22) third year technician certificate in clinical medicine students. Data was collected through In-depth Interviews. The transcribed data was analyzed by inductive thematic analysis
Results
This study revealed five key themes: Feedback Delivery and Approach, Feedback Timing, Feedback Content, student Engagement and Participation, Challenges in giving feedback. Most tutors provided constructive, timely, and engaging feedback. The challenges dominantly were; Students not being receptive to feedback, Individual differences. Diverse learning styles, student resistance to act on feedback. Notably, most of the students were dissatisfied with the feedback provided citing its absence, delay, inconsistency, discouraging comments, and harsh language used by certain teachers.
Conclusion
Generally, the clinical tutors provided feedback that was constructive and student engaging but lacked the crucial aspect of observed performance and student reflection; hence an incomplete feedback process. Moreover, a majority of students expressed dissatisfaction with it. To improve impact of feedback on student learning and growth in clinical settings, institutions should implement Faculty Development Programmes that will provide training and support to tutors on effective feedback practices.