bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring the impact of N4-acetylcytidine modification in RNA on non-neoplastic disease: unveiling its role in pathogenesis and therapeutic opportunities
Authors: Wan Keyu , Nie Tiantian , Ouyang Wenhao , Xiong Yunjing , Bian Jing , Huang Ying , Ling Li , Huang Zhenjun , Zhu Xianhua 
Published: May 2024

Abstract
RNA modifications include not only methylation modifications, such as m6A, but also acetylation modifications, which constitute a complex interaction involving “writers,” “readers,” and “erasers” that play crucial roles in growth, genetics, and disease. N4-acetylcytidine (ac4C) is an ancient and highly conserved RNA modification that plays a profound role in the pathogenesis of a wide range of diseases. This review provides insights into the functional impact of ac4C modifications in disease and introduces new perspectives for disease treatment. These studies provide important insights into the biological functions of post-transcriptional RNA modifications and their potential roles in disease mechanisms, offering new perspectives and strategies for disease treatment.
SPIN: sex-specific and pathway-based interpretable neural network for sexual dimorphism analysis
Authors: Ko Euiseong , Kim Youngsoon , Shokoohi Farhad , Mersha Tesfaye B , Kang Mingon 
Published: May 2024

Abstract
Sexual dimorphism in prevalence, severity and genetic susceptibility exists for most common diseases. However, most genetic and clinical outcome studies are designed in sex-combined framework considering sex as a covariate. Few sex-specific studies have analyzed males and females separately, which failed to identify gene-by-sex interaction. Here, we propose a novel unified biologically interpretable deep learning-based framework (named SPIN) for sexual dimorphism analysis. We demonstrate that SPIN significantly improved the C-index up to 23.6% in TCGA cancer datasets, and it was further validated using asthma datasets. In addition, SPIN identifies sex-specific and -shared risk loci that are often missed in previous sex-combined/-separate analysis. We also show that SPIN is interpretable for explaining how biological pathways contribute to sexual dimorphism and improve risk prediction in an individual level, which can result in the development of precision medicine tailored to a specific individual’s characteristics.
Chronic Q fever infective endocarditis: a case report
Authors: Al Suqri Badriya , Al Brashdi Azza 
Published: May 2024

Abstract
Q fever is an epidemic disease caused by the Coxiella burnetii infection. It can manifest clinically as an acute or chronic disease, with chronic infections being more common. Q fever endocarditis is the most common manifestation of chronic infection and usually occurs in patients with previous valvular heart disease like in our present study, a case of Q fever endocarditis that occurred in background of tetralogy of Fallot surgical repair. However, Q fever endocarditis is difficult to diagnose clinically and may lead to very serious or even life-threatening outcomes if not diagnosed promptly. In the present study, accurate diagnosis and treatment were achieved by 18F-FDG PET/CT combined with detection of the Q fever serological antibodies.
Moral Distress in Social Work: A Systematic Literature Review
Authors: Palma Contreras Andrea María , Pardo Adriasola María Angélica 
Published: May 2024

Abstract
The aim of this article is to present empirical evidence on the factors that facilitate the emergence of moral suffering and the consequences of the phenomenon in social workers published between 2018 and 2022. A systematic literature review was conducted in Scielo, Scopus and Web of Science, and eighteen articles were selected for analysis. Most of the articles are qualitative research reports and use interviews as data collection instruments. The studies primarily involve social workers working in the fields of healthcare and childhood, aiming to understand the factors influencing moral distress. Moral distress is conceptualised as arising from working conditions and organisational factors. The main consequences of the phenomenon are in the mental health of professionals and at the organisational level. Mental health issues such as depression, anxiety and burnout are reported, as well as organisational difficulties such as high turnover and the intention to quit the job. Despite the serious consequences of the phenomenon, evidence on this topic is scarce, particularly in Latin America, where no studies on the subject have been found. The precarious working conditions that social workers face in this geographical area show the need for further research.
Bloomington and Cambridge compared: varieties of ontological thinking, social positioning, and the self-governance of common-pool resources
Authors: Lewis Paul , Runde Jochen 
Published: May 2024

AbstractThis paper contributes to the literature on ontology and the history of economic thought by examining the ontological commitments of Nobel Laureate Elinor Ostrom from the vantage point of recent work on social positioning theory (SPT). The comparison highlights important features of Ostrom’s thought on common-pool resources (CPRs), most notably her emphasis on social positions and the correlative nature of the rights and duties and the role of power and authority associated with them. In addition to highlighting similarities between Ostrom and SPT, the paper also identifies differences and possible gains from trade. It is argued that Ostrom’s approach could potentially be enhanced by following SPT in allowing for the social positioning of objects as well as people and that SPT might benefit from Ostrom’s ideas about the epistemic challenges involved in deliberate attempts at social positioning and the possibility of failures in social positioning such challenges might entail.
Whole-blood transcriptome unveils altered immune response in acute myocardial infarction patients with aortic valve sclerosis
Authors: Poggio P , Piacentini L , Myasoedova V A , Chiesa M , Vavassori C , Moschetta D , Valerio V , Giovanetti G , Massaiu I , Cosentino N , Marenzi G , Colombo G I 
Published: May 2024

Abstract

Funding Acknowledgements
Type of funding sources: Foundation. Main funding source(s): Fondazione Umberto Veronesi (Research Grant 2011-12 to GIC)
Fondazione Gigi e Pupa Ferrari ONLUS (FPF-14 to PP)

Background
Aortic valve sclerosis (AVSc) presents similar pathogenetic mechanisms to coronary artery disease (CAD) and is associated with short- and long-term mortality in CAD patients. Evidence of AVSc-specific pathophysiological traits in acute myocardial infarction (AMI) is currently lacking.

Purpose
We aimed to identify a blood-based transcriptional signature that could differentiate AVSc from non-AVSc patients during AMI.

Methods
Whole-blood transcriptome of AVSc (n = 44) and no-AVSc (n = 66) patients with AMI was assessed by RNA-sequencing on hospital admission. Feature selection, differential expression, and enrichment analyses were performed to identify gene expression patterns discriminating AVSc from no-AVSc and infer functional associations. Multivariable Cox regression analysis was used to estimate the hazard ratios of cardiovascular events in AVSc versus no-AVSc patients.

Results
This cross-sectional study identified a panel of 100 informative genes capable of distinguishing
AVSc from no-AVSc patients with 94% accuracy. Further analysis revealed significant mean differences in 143 genes, of which 30 genes withstood correction for age and previous AMI or coronary interventions. Functional inference unveiled a significant association between AVSc and key biological processes, including acute inflammatory responses, type I interferons (IFN) response, platelet activation, and hemostasis. Notably, AMI patients with AVSc exhibited a significantly higher incidence of adverse cardiovascular events during a 10-year follow-up period, with a full adjusted hazard ratio of 2.4 (95% CI: 1.3–4.5).

Conclusions
Our findings shed light on the molecular mechanisms underlying AVSc and provide potential prognostic insights for AMI patients with AVSc. During AMI, AVSc patients showed increased type I IFN response and earlier adverse cardiovascular outcomes. Novel pharmacological therapies aiming at limiting type I IFN response during or immediately after AMI might improve poor cardiovascular outcomes of AMI patients with AVSc.
Bradycardia in a long QT type 2 family: coinciding KCNH2 and HCN4 variants
Authors: Copier J S , Andrzejczyk K , Amin A S , Van Der Crabben S N , Beekman L , Bezzina C R , Verkerk A O , Lodder E M 
Published: May 2024

Abstract

Funding Acknowledgements
Type of funding sources: Public grant(s) – National budget only. Main funding source(s): the Dutch Research Council: NWO Talent Scheme

Background
A large multigenerational family harboring a pathogenic KCNH2 variant (L69P) was identified. This gene encodes the hERG channel, responsible for the cardiac rapid delayed rectifier K+ current (IKr). Pathogenic variants in KCNH2 can cause Long QT syndrome type 2 (LQTS2). Interestingly, in addition to LQTS2 we observed a high incidence of bradycardia in this family. Bradycardia is a known feature of some types of LQTS. However, evidence of bradycardia in LQTS2 is limited to a few sporadic cases.

Purpose
This study aims to identify the genetic variants and biophysiological changes in ion channel function, explanatory of the phenotypes LQTS2 and bradycardia.

Methods
An overview of the phenotype and genetic information of the index and family members was generated , including symptoms and electrocardiogram (ECG) parameters. QTc was calculated using Bazetts’ correction. Segregation of the identified genetic variants with LQTS and bradycardia were determined by LOD score. Biophysiological properties of the encoded ion channels was measured by manual whole-cell patch-clamp experiments.

Results
On the basis of linkage analysis, the pathogenic variant KCNH2-p.L69P was found to be unrelated to the bradycardia. Therefore, Sanger sequencing of HCN4, encoding the channel responsible for the hyperpolarization-activated current (If), an important current for sinoatrial node automaticity, was performed. We identified the HCN4-p.R666W variant in multiple family members, which co-segregated with bradycardia (LOD-score 3.2). Patients carrying both variants had more severe phenotypes than carriers of a single variant. Patch-clamp experiments in HEK293A-cells expressing wild type, or KCNH2-p.L69P show a reduced current density, and an altered time component of the fast deactivation, explaining the observed LQTS2. Functional assays of HCN4-p.R666W will elucidate the biophysiological changes possibly underlying the bradycardia.

Conclusion
we present a large multigenerational family that harbors a likely pathogenic variant in HCN4 in conjunction with a pathogenic variant of KCNH2. Double carriers were more affected than single carriers, arguing for continued alertness and deep phenotyping even in families with known pathogenic variants. Furthermore, we identified functional changes in the kinetics of the hERG channel encoded by KCNH2-p.L69P, elucidating the molecular mechanism underlying LQTS2 in this family.
The impact of SLCO1B1 single nucleotide polymorphism and non-genetic factors on statin-induced myopathy
Authors: Alaryan T H , Youssef L 
Published: May 2024

Abstract

Funding Acknowledgements
None.

Background
Statins, also known as HMG CoA Reductase Inhibitors, are a class of drugs considered the drug of choice for treating hypercholesterolemia. Statins are well tolerated; however, they may cause severe myopathy in 20% to 30% of patients, due to the individual variation regarding its efficacy and related adverse effects. Of these, comes the Single Nucleotide Polymorphism (SNP) T521C of the SLCO1B1 gene that encodes the protein involved in the trafficking of statins from the blood to hepatocytes which is called Organic Anion Transport Protein 1B1 (OATP1B1). The T521C single nucleotide polymorphism (SNP) results in a substitute of valine with alanine resulting in a decreased or lack of functional protein.

Purpose
The aim is to determine the frequency of the high-risk C allele and to define its impact on statin-induced myopathy in Syrian patients on statins. In addition to the non-genetic factors that may affect the ability to develop statin-induced myopathy.

Methods
This was an observational case-control study that had ethical approval from Damascus University (No.433/ 2020). The case group included 44 patients on statins who experienced myopathy, 18 patients who had increased creatinine kinase levels (CK), and 26 patients with normal CK levels, while the control group encompassed 56 patients who were taking statins and had no muscular adverse events. The DNA was extracted from each sample and then genotyped using standard sequencing of specific PCR products using a specific pair of primers.

Results
The age of patients in the case arm ranged between 27 and 84 years with an average ± SD of (58.2 ± 12.7 years), 70% of them were males. In comparison with (53.34 ± 12.4 years) in the control arm, 66% of them were males without a statistically significant differences (p=0.672, 0.057) respectively. The statin type and dose have a statistically non-significant effect, the average statin dose in the case arm and the control arm was 26.02 mg and 31.27 mg respectively (p=0.072). While the statin type treatment varied as 59% used atorvastatin and 39% used rosuvastatin in the case group compared with 71% used atorvastatin and 27% used rosuvastatin in the control group, without a statistically significant difference (p=0.252). The frequency of the C allele reaches 19.3% and is distributed in three genotypes: wild-type TT (68%), heterozygote TC (25%), and homozygote CC (7%) in the case arm, while it does not exceed 8% in the control arm with the absence of the CC genotype. Only a statistically significant difference was found in the frequency of the CC genotype between these two groups (p=0.047).

Conclusion
Our study is the first to identify the frequency of the 521T&gt;C SNP of the SLCO1B1 gene in Syrian patients taking statins. Our data reveals a high prevalence of risk allele C in the patients who suffer from statin-induced myopathy with a statically significant difference from the control arm (p=0.026).
The influence of different cheek and lip retractors and emissivity on intraoral infrared thermography
Authors: Moura Oliveira Lopes Layrlla Kateriny , Ramos Castelo Branco Rodolfo , Pequeno Reis Sousa Rafaela , Diniz de Lima Elisa , Bezerra Silva Diego Filipe , Pita de Melo Daniela 
Published: May 2024

Abstract

Objectives
To assess the influence of two conventional and one adapted cheek and lip retractors and three emissivity setting values on intraoral infrared thermography (IT) temperature values.

Methods
The sample was composed by 50 volunteers. Three cheek and lip retractors were tested: Group 1—flex retractor (FR); Group 2—FR adapted with Styrofoam; Group 3—U-type retractor (UR) for cheek and lip. All thermograms were acquired using FLIR T650 infrared camera. A set of three thermograms in frontal norm were acquired for each lip and cheek retractor at 0.91, 0.96, and 0.98ε, with an interval of 15 min between each set of images to avoid thermal interference. All images were assessed by two observers. The ROIs’ mean temperature of the four upper incisors was recorded. Two-way ANOVA and Sidak post-test were used for data assessment with a significance level of 5%.

Results
Group 3 showed higher mean temperature than Groups 1 and 2 at all emissivity settings for all assessed teeth (P &lt; .05). 0.91ε showed higher temperature than 0.96ε and 0.98ε for all assessed variables (P &lt; .01). Contralateral teeth assessed using Group 3 at 0.91ε showed statistical differences between each other (P &lt; .05). No statistical difference was observed between contralateral teeth assessed using Groups 1 and 2 at 0.96ε and 0.98ε (P &gt; .05).

Conclusions
The choice of cheek and lip retractor and emissivity setting can interfere on intraoral IT temperature values. U-type cheek and lip retractor and 0.91ε setting should not be used for IT image acquisition when assessing dental tissues.
Vertical and temporal flight patterns of coffee berry borer (Coleoptera: Curculionidae) in Hawaii
Authors: Johnson Melissa A , Maeda Colby T , Pulakkatu-Thodi Ishakh 
Published: May 2024

Abstract
Coffee berry borer (Hypothenemus hampei Ferrari) (Coleoptera: Curculionidae) is the most damaging insect pest of coffee worldwide, causing significant losses in coffee yields and quality. Knowledge of vertical and temporal flight patterns in coffee berry borer could be used to optimize spray timing and precision targeting of areas within the coffee tree, which may be more susceptible. In the present study, we estimated the vertical distribution of coffee berry borer females using traps set at 1-m intervals up to 5 m in height. We also quantified coffee berry borer infestation in the low, mid, and high canopy and documented fruit availability. Temporal flight patterns were estimated using timer traps, and correlation analyses were conducted to determine the relationship between the timing of daily flight and weather variables. Across the 4 study sites, we observed that 77%–84% of the trap catch was at 1 m, 11%–20% was at 2 m, and 1%–4% was at 3–5 m in height. Fruit infestation was significantly higher in the low branches (35%) relative to the high branches (17%). Flight height remained the same year-round, regardless of fruit availability. Coffee berry borer flew in low numbers during the day and night but peaked from 12 to 4 PM. Daily flight was positively correlated with an increase in air temperature and wind speed and negatively correlated with relative humidity. Findings from this study suggest that pesticide sprays should target low- to mid-level branches at 1–2 m in height and aim to be conducted in the early afternoon when coffee berry borer are actively flying and most vulnerable to chemical controls.
Does LDL-C determination method affect statin prescribing for primary prevention? A register-based study in Southern Denmark
Authors: Pottegård Anton , Gerdes Lars Ulrik , Wetche Jakob Langballe , Thompson Wade 
Published: May 2024

Abstract

Aims
Examine whether the low-density lipoprotein cholesterol (LDL -C) determination method influences the rate of statin initiation for primary prevention of cardiovascular disease.

Methods and results
We conducted a register-based retrospective study in the Region of Southern Denmark. Two hospital-based laboratories in the region directly measure LDL -C whereas four laboratories calculate LDL -C using Friedewald's formula. Physicians do not choose which method is used. We included all statin-naïve patients ≥40 years with no history of cardiovascular disease, diabetes, or chronic kidney disease, who had their LDL -C determined during 2018–2019. There were 202 807 people who had LDL -C determined during the study period (median age 59 years, 44% women) of which 37% had a direct LDL -C measurement. The median reported LDL -C was 3.40 mmol/L [interquartile range (IQR) 2.90–4.00] for those with a direct measurement vs. 3.00 mmol/L (IQR 2.40–3.50) for those with calculated LDL -C. For those with direct measurement, re-calculated LDL -C (using Friedewald's formula) was 0.35 mmol/L lower than the reported direct LDL -C measurement. Among those with directly measured LDL -C, 3.6% initiated statins compared with 2.7% of those with a calculated LDL -C. Direct LDL -C measurement led to higher odds of having a statin initiated compared with calculated LDL -C (adjusted odds ratio 1.23, 95% CI 1.17–1.30); for those with triglycerides &gt;1.7 mmol/L the adjusted odds ratio was 1.41 (95% CI 1.30–1.52).

Conclusion
Differences in the reporting of LDL -C from laboratories using different methods have a substantial influence on physician's decisions to prescribe statins.
Heat and Observed Economic Activity in the Rich Urban Tropics
Authors: Fesselmeyer Eric , Liu Haoming , Salvo Alberto , Simorangkir Rhita P B 
Published: May 2024

Abstract
We use space- and time-resolved mobility data to assess how heat impacts Singapore, a rich city state and arguably a harbinger of what is to come in the urbanising tropics. Singapore’s offices, factories, malls, buses and trains are widely air conditioned, its public schools less so. We document increased attendance and commuting to workplaces, malls and the more air-conditioned schools on hotter relative to cooler days, particularly by low-income residents with limited use of adaptive technologies at home. Investment by rich cities may attenuate heat’s pervasive negative consequences on productive outcomes, yet this may worsen the climate emergency in the long run.
The patterns and risk factors for relapse in oesophageal squamous cell cancers that achieve pathological complete response to neoadjuvant chemoradiotherapy
Authors: Zhong Jian , Fang Shuogui , Chen Rui , Yuan Jianye , Xie Xiuying , Lin Ting , Liu Mengzhong , Liu Qianwen , Fu Jianhua 
Published: May 2024

Abstract

OBJECTIVES
The goal of this study was to investigate the patterns and risk factors for recurrence in patients with oesophageal squamous cell carcinoma with a pathological complete response (pCR) after neoadjuvant chemoradiotherapy (nCRT).

METHODS
Between January 2008 and December 2018, a total of 96 patients with pCR were enrolled in this study. Lymph nodes with a pCR [LN-ypCR response (+)] were defined as those lymph nodes without residual tumour but with the presence of treatment response to nCRT. Prognostic factors for recurrence-free survival (RFS) were analysed with Cox proportional hazards models and Fine-Gray competing risk models. Lymph node (LN) stations were counted according to the Japan Esophageal Society classification.

RESULTS
The median follow-up time was 51.5 months. Recurrence occurred in 15 cases (15.6%) with a 9.9-month median time to recurrence and a 15.6-month median survival after recurrence. The majority of recurrent diseases developed within the first 2 years postoperatively. Distant recurrences were detected in 14 cases (14.6%), in which the most common recurrence sites were no.104 LN and the lung, followed by no.16 LN. The mean RFS in the whole cohort was 116.6 months. The LN-ypCR response (+) was identified as the independent prognostic factor for worse RFS in both the multivariate Cox model and the Fine–Gray competing risk model (P = 0.001 and P = 0.002, respectively).

CONCLUSIONS
Relapse is not rare in oesophageal squamous cell carcinoma cases with pCR after nCRT. Distant recurrences, the predominant pattern of relapse, occur primarily within the first 2 years after oesophagectomy. Patients with pCR with an LN-ypCR response (+) have a higher risk for postoperative recurrence.