bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sex and fetal genome influence gene expression in pig endometrium at the end of gestation
Authors: Bonnet Agnes , Bluy Lisa , Gress Laure , Canario Laurianne , Ravon Laure , Sécula Aurelie , Billon Yvon , Liaubet Laurence 
Published: March 2024

AbstractBackgroundA fine balance of feto-maternal resource allocation is required to support pregnancy, which depends on interactions between maternal and fetal genetic potential, maternal nutrition and environment, endometrial and placental functions. In particular, some imprinted genes have a role in regulating maternal-fetal nutrient exchange, but few have been documented in the endometrium. The aim of this study is to describe the expression of 42 genes, with parental expression, in the endometrium comparing two extreme breeds: Large White (LW); Meishan (MS) with contrasting neonatal mortality and maturity at two days of gestation (D90-D110). We investigated their potential contribution to fetal maturation exploring genes-fetal phenotypes relationships. Last, we hypothesized that the fetal genome and sex influence their endometrial expression. For this purpose, pure and reciprocally crossbred fetuses were produced using LW and MS breeds. Thus, in the same uterus, endometrial samples were associated with its purebred or crossbred fetuses.ResultsAmong the 22 differentially expressed genes (DEGs), 14 DEGs were differentially regulated between the two days of gestation. More gestational changes were described in LW (11 DEGs) than in MS (2 DEGs). Nine DEGs were differentially regulated between the two extreme breeds, highlighting differences in the regulation of endometrial angiogenesis, nutrient transport and energy metabolism. We identified DEGs that showed high correlations with indicators of fetal maturation, such as ponderal index at D90 and fetal blood fructose level and placental weight at D110.We pointed out for the first time the influence of fetal sex and genome on endometrial expression at D90, highlightingAMPD3,CITED1andH19genes. We demonstrated that fetal sex affects the expression of five imprinted genes in LW endometrium. Fetal genome influenced the expression of four genes in LW endometrium but not in MS endometrium. Interestingly, both fetal sex and fetal genome interact to influence endometrial gene expression.ConclusionsThese data provide evidence for some sexual dimorphism in the pregnant endometrium and for the contribution of the fetal genome to feto-maternal interactions at the end of gestation. They suggest that the paternal genome may contribute significantly to piglet survival, especially in crossbreeding production systems.
APOE ε4 carriage associates with improved myocardial performance from adolescence to older age
Authors: Topriceanu Constantin-Cristian , Shah Mit , Webber Matthew , Chan Fiona , Shiwani Hunain , Richards Marcus , Schott Jonathan , Chaturvedi Nishi , Moon James C. , Hughes Alun D. , Hingorani Aroon D. , O’Regan Declan P. , Captur Gabriella 
Published: March 2024

Abstract
Background
Although APOE ε4 allele carriage confers a risk for coronary artery disease, its persistence in humans might be explained by certain survival advantages (antagonistic pleiotropy).

Methods
Combining data from ~ 37,000 persons from three older age British cohorts (1946 National Survey of Health and Development [NSHD], Southall and Brent Revised [SABRE], and UK Biobank) and one younger age cohort (Avon Longitudinal Study of Parents and Children [ALSPAC]), we explored whether APOE ε4 carriage associates with beneficial or unfavorable left ventricular (LV) structural and functional metrics by echocardiography and cardiovascular magnetic resonance (CMR).

Results
Compared to the non-APOE ε4 group, APOE ε4 carriers had similar cardiac phenotypes in terms of LV ejection fraction, E/e’, posterior wall and interventricular septal thickness, and LV mass. However, they had improved myocardial performance resulting in greater LV stroke volume generation per 1 mL of myocardium (higher myocardial contraction fraction). In NSHD (n = 1467) and SABRE (n = 1187), ε4 carriers had a 4% higher MCF (95% CI 1–7%, p = 0.016) using echocardiography. Using CMR data, in UK Biobank (n = 32,972), ε4 carriers had a 1% higher MCF 95% (CI 0–1%, p = 0.020) with a dose-response relationship based on the number of ε4 alleles. In addition, UK Biobank ε4 carriers also had more favorable radial and longitudinal strain rates compared to non APOE ε4 carriers. In ALSPAC (n = 1397), APOE ε4 carriers aged < 24 years had a 2% higher MCF (95% CI 0–5%, p = 0.059).

Conclusions
By triangulating results in four independent cohorts, across imaging modalities (echocardiography and CMR), and in ~ 37,000 individuals, our results point towards an association between ε4 carriage and improved cardiac performance in terms of LV MCF. This potentially favorable cardiac phenotype adds to the growing number of reported survival advantages attributed to the pleiotropic effects APOE ε4 carriage that might collectively explain its persistence in human populations.
Empowering child health: Harnessing machine learning to predict acute respiratory infections in Ethiopian under-fives using demographic and health survey insights
Authors: Kalayou Mulugeta Hayelom , Kassaw Abdul-Aziz Kebede , Shiferaw Kirubel Biruk 
Published: March 2024

Abstract
Background
A dearth of studies showed that infectious diseases cause the majority of deaths among under-five children. Worldwide, Acute Respiratory Infection (ARI) continues to be the second most frequent cause of illness and mortality among children under the age of five. The paramount disease burden in developing nations, including Ethiopia, is still ARI.

Objective
This study aims to determine the magnitude and predictors of ARI among under-five children in Ethiopia using used state of the art machine learning algorithms.

Methods
Data for this study were derived from the 2016 Ethiopian Demographic and Health Survey. To predict the determinants of acute respiratory infections, we performed several experiments on ten machine learning algorithms (random forests, decision trees, support vector machines, Naïve Bayes, and K-nearest neighbors, Lasso regression, GBoost, XGboost), including one classic logistic regression model and an ensemble of the best performing models. The prediction ability of each machine-learning model was assessed using receiver operating characteristic curves, precision-recall curves, and classification metrics.

Results
The total ARI prevalence rate among 9501 under-five children in Ethiopia was 7.2%, according to the findings of the study. The overall performance of the ensemble model of SVM, GBoost, and XGBoost showed an improved performance in classifying ARI cases with an accuracy of 86%, a sensitivity of 84.6%, and an AUC-ROC of 0.87. The highest performing predictive model (the ensemble model) showed that the child’s age, history of diarrhea, wealth index, type of toilet, mother’s educational level, number of living children, mother’s occupation, and type of fuel they used were an important predicting factor for acute respiratory infection among under-five children.

Conclusion
The intricate web of factors contributing to ARI among under-five children was identified using an advanced machine learning algorithm. The child’s age, history of diarrhea, wealth index, and type of toilet were among the top factors identified using the ensemble model that registered a performance of 86% accuracy. This study stands as a testament to the potential of advanced data-driven methodologies in unraveling the complexities of ARI in low-income settings.
Long-term multicenter comparison shows equivalent efficacy of monoclonal antibodies in severe asthma therapy
Authors: Kayser Moritz Z. , Suhling Hendrik , Fuge Jan , Hinze Christopher A. , Drick Nora , Kneidinger Nikolaus , Behr Jürgen , Taube Christian , Welte Tobias , Haasler Ina , Milger Katrin 
Published: March 2024

Abstract
Background
Monoclonal antibodies (biologics) drastically changed severe asthma therapy. Mepolizumab (anti-interleukin (IL) 5), benralizumab (anti-IL5 receptor alpha), and dupilumab (anti-IL4/13) are the most used biologics in this context. While all biologics are efficient individually, the choice of biologic is complicated by insufficient data on their comparative long-term treatment efficacy. Here, we compare the real-life efficacy of these biologics in asthma therapy over 12 months.

Methods
280 severe asthma patients treated with mepolizumab (129/280, 46%), benralizumab (83/280, 30%) or dupilumab (68/280, 24%) for one year were analyzed retrospectively. Data were collected at baseline and after 6 and 12 months of therapy. Endpoints were changes pulmonary function (PF), exacerbation rate, oral corticosteroid (OCS) use and dose, asthma control test (ACT) score and fractional exhaled nitric oxide (FeNO) levels as well as responder status measured by the recently published “Biologic Asthma Response Score” (BARS).

Results
All biologics led to significant improvements in PF, ACT and OCS dose. Only Mepolizumab and Benralizumab significantly decreased the exacerbation rate, while only Mepolizumab and Dupilumab significantly decreased FeNO. Responder rates measured by BARS were high across all groups: roughly half of all patients achieved full response and most of the remainder achieved at least partial responder status. Overall, outcomes were similar between groups after both 6 and 12 months.

Conclusions
All biologics showed great efficacy in individual parameters and high responder rates measured by BARS without a clinically relevant advantage for any antibody. Response was usually achieved after 6 months and retained at 12 months, emphasizing the utility of early response assessment.
Aesthetic impact of resin infiltration and its mechanical effect on ceramic bonding for white spot lesions
Authors: Shu Jiaen , Huang Yijia , Ma Xueying , Duan Zhonghua , Wu Pei , Chu Sijing , Wu Yuqiong , Wang Yuhua 
Published: March 2024

Abstract
Background
Treating white spot lesions (WSLs) with resin infiltration alone may not be sufficient, raising questions about its compatibility with other treatments amid controversial or incomplete data. Therefore, this study aimed to assess the aesthetic feasibility of resin infiltration combined with bleaching, as well as its potential mechanical effect on ceramic bonding to WSLs.

Methods
One hundred and fifty flat enamel surfaces of bovine incisors were prepared. Ninety specimens were deminerailized and randomly assigned to three groups(n = 30): post-bleaching resin infiltration (Bl-R), pre-bleaching resin infiltration (R-Bl), and only resin infiltration (R). Color, surface roughness and microhardness were assessed in immediate, thermocycling and pigmentation tests. The remaining sixty samples were randomly assigned to three groups (n = 20): control (Ctrl), bonding (Bo), pre-bonding resin infiltration (R-Bo). Shear bonding strength, failure mode, micro-leakage depth and interface morphology were evaluated after ceramic bonding. The Tukey test and analysis of variance (ANOVA) were used for statistical analysis.

Results
For the effect of resin infiltration and bleaching on WSLs, the R-Bl group showed the worst chromic masking ability, with the highest |ΔL|, |Δa|, |Δb|, and ΔE values after treatment. Compared with those in the Bl-R group, the R-Bl and R groups showed significant time-dependent staining, which is possibly attributed to their surface roughness. For the effect of resin infiltration on the adhesive properties of WSLs, resin infiltration reduced the staining penetration depth of WSLs from 2393.54 ± 1118.86 μm to 188.46 ± 89.96 μm (P < 0.05) while reducing WSLs porosity in SEM observation.

Conclusions
Post-bleaching resin infiltration proved to be advantageous in the aesthetic treatment of WSLs. Resin infiltration did not compromise bonding strength but it did reduce microleakage and enhance marginal sealing. Overall, resin infiltration can effectively enhance the chromatic results of treated WSLs and prevent long-term bonding failure between ceramics and enamel. Based on these findings, the use of post-bleaching resin infiltration is recommended, and resin infiltration before ceramic bonding is deemed viable in clinical practice.
Noninvasive monitoring technologies to identify discomfort and distressing symptoms in persons with limited communication at the end of life: a scoping review
Authors: Xu Jingyuan , Smaling Hanneke J. A. , Schoones Jan W. , Achterberg Wilco P. , van der Steen Jenny T. 
Published: March 2024

Abstract
Background
Discomfort and distressing symptoms are common at the end of life, while people in this stage are often no longer able to express themselves. Technologies may aid clinicians in detecting and treating these symptoms to improve end-of-life care. This review provides an overview of noninvasive monitoring technologies that may be applied to persons with limited communication at the end of life to identify discomfort.

Methods
A systematic search was performed in nine databases, and experts were consulted. Manuscripts were included if they were written in English, Dutch, German, French, Japanese or Chinese, if the monitoring technology measured discomfort or distressing symptoms, was noninvasive, could be continuously administered for 4 hours and was potentially applicable for bed-ridden people. The screening was performed by two researchers independently. Information about the technology, its clinimetrics (validity, reliability, sensitivity, specificity, responsiveness), acceptability, and feasibility were extracted.

Results
Of the 3,414 identified manuscripts, 229 met the eligibility criteria. A variety of monitoring technologies were identified, including actigraphy, brain activity monitoring, electrocardiography, electrodermal activity monitoring, surface electromyography, incontinence sensors, multimodal systems, and noncontact monitoring systems. The main indicators of discomfort monitored by these technologies were sleep, level of consciousness, risk of pressure ulcers, urinary incontinence, agitation, and pain. For the end-of-life phase, brain activity monitors could be helpful and acceptable to monitor the level of consciousness during palliative sedation. However, no manuscripts have reported on the clinimetrics, feasibility, and acceptability of the other technologies for the end-of-life phase.

Conclusions
Noninvasive monitoring technologies are available to measure common symptoms at the end of life. Future research should evaluate the quality of evidence provided by existing studies and investigate the feasibility, acceptability, and usefulness of these technologies in the end-of-life setting. Guidelines for studies on healthcare technologies should be better implemented and further developed.
Knowledge of cytology results affects the performance of colposcopy: a crossover study
Authors: Lalande Eva , Clarke Holly , Undurraga Manuela , Nguyen Vu Quoc Huy , Jaksic Cyril , Goffin Frederic , Arbyn Marc , Jeronimo Jose , Tille Jean-Christophe , Saiji Essia , Vassilakos Pierre , Petignat Patrick 
Published: March 2024

Abstract
Objective
To determine whether knowledge of cytology affects the colposcopist’s diagnostic accuracy in the identification of cervical intraepithelial neoplasia grade 2 and worse (≥ CIN2).

Method
In this cross-over study, healthcare professionals interpreted colposcopy images from 80 patient cases with known histological diagnoses. For each case, 2 images taken with a colposcope were provided (native and after acetic acid application). Inclusion criteria consisted of women with a transformation zone type 1 or 2, who had both a cytological and histological diagnosis. Cases were distributed across two online surveys, one including and one omitting the cytology. A wash-out period of six weeks between surveys was implemented. Colposcopists were asked to give their diagnosis for each case as < CIN2 or ≥ CIN2 on both assessments. Statistical analysis was conducted to compare the two interpretations.

Results
Knowledge of cytology significantly improved the sensitivity when interpreting colposcopic images, from 51.1% [95%CI: 39.3 to 62.8] to 63.7% [95%CI: 52.1 to 73.9] and improved the specificity from 63.5% [95%CI: 52.3 to 73.5] to 76.6% [95%CI: 67.2 to 84.0]. Sensitivity was higher by 38.6% when a high-grade cytology (ASC-H, HSIL, AGC) was communicated compared to a low-grade cytology (inflammation, ASC-US, LSIL). Specificity was higher by 31% when a low-grade cytology was communicated compared to a high-grade.

Conclusions
Our data suggests that knowledge of cytology increases sensitivity and specificity for diagnosis of ≥ CIN2 lesions at colposcopy. Association between cytology and histology may have contributed to the findings.
Multimodal deep learning-based diagnostic model for BPPV
Authors: Lu Hang , Mao Yuxing , Li Jinsen , Zhu Lin 
Published: March 2024

Abstract
Background
Benign paroxysmal positional vertigo (BPPV) is a prevalent form of vertigo that necessitates a skilled physician to diagnose by observing the nystagmus and vertigo resulting from specific changes in the patient’s position. In this study, we aim to explore the integration of eye movement video and position information for BPPV diagnosis and apply artificial intelligence (AI) methods to improve the accuracy of BPPV diagnosis.

Methods
We collected eye movement video and diagnostic data from 518 patients with BPPV who visited the hospital for examination from January to March 2021 and developed a BPPV dataset. Based on the characteristics of the dataset, we propose a multimodal deep learning diagnostic model, which combines a video understanding model, self-encoder, and cross-attention mechanism structure.

Result
Our validation test on the test set showed that the average accuracy of the model reached 81.7%, demonstrating the effectiveness of the proposed multimodal deep learning method for BPPV diagnosis. Furthermore, our study highlights the significance of combining head position information and eye movement information in BPPV diagnosis. We also found that postural and eye movement information plays a critical role in the diagnosis of BPPV, as demonstrated by exploring the necessity of postural information for the diagnostic model and the contribution of cross-attention mechanisms to the fusion of postural and oculomotor information. Our results underscore the potential of AI-based methods for improving the accuracy of BPPV diagnosis and the importance of considering both postural and oculomotor information in BPPV diagnosis.
Transforming health care systems towards high-performance organizations: qualitative study based on learning from COVID-19 pandemic in the Basque Country (Spain)
Authors: Fullaondo Ane , Erreguerena Irati , Keenoy Esteban de Manuel 
Published: March 2024

Abstract
Background
The COVID-19 pandemic is one of the worst health catastrophes of the last century, which caused severe economic, political, and social consequences worldwide. Despite these devastating consequences, lessons learned provide a great opportunity that can drive the reform of health systems to become high-performing, effective, equitable, accessible, and sustainable organisations. This work identifies areas in which changes must be encouraged that will enable health systems to deal effectively with current and future challenges, beyond COVID-19.

Methods
A realist design was chosen, based on qualitative data collection techniques, content analysis and triangulation to identify key domains of organizational interventions behind the changes implemented to react to the COVID-19 pandemic in the Basque Country. Twenty key informants were used as an expert source of information. Thematic analysis was done using the Framework Method.

Results
The analysis of the interviews resulted in the identification of 116 codes, which were reviewed and agreed upon by the researchers. Following the process of methodological analysis, these codes were grouped into domains: seven themes and 23 sub-themes. Specifically, the themes are: responsiveness, telehealth, integration, knowledge management, professional roles, digitisation, and organisational communication. The detailed description of each theme and subtheme is presented.

Conclusions
The findings of this work pretend to guide the transformation of health systems into organisations that can improve the health of their populations and provide high quality care. Such a multidimensional and comprehensive reform encompasses both strategic and operational actions in diverse areas and requires a broad and sustained political, technical, and financial commitment.
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL
Authors: Wang Kaihan , Hu Tingting , Tai Mengmeng , Shen Yan , Chai Haocheng , Lin Shaoyi , Chen Xiaomin 
Published: March 2024

Abstract
Background
Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in low-density lipoprotein receptor (LDLR), an FH-related gene, is a pathogenic variant in FH by in silico analysis and functional experiments.

Methods
The proband and his family were evaluated using the diagnostic criteria of the Dutch Lipid Clinic Network. Whole-exome and Sanger sequencing were used to explore and validate FH-related variants. In silico analyses were used to evaluate the pathogenicity of the candidate variant and its impact on protein stability. Molecular and biochemical methods were performed to examine the effects of the LDLR c.415G > A variant in vitro.

Results
Four of six participants had a diagnosis of FH. It was estimated that the LDLR c.415G > A variant in this family was likely pathogenic. Western blotting and qPCR suggested that LDLR c.415G > A does not affect protein expression. Functional studies showed that this variant may lead to dyslipidemia by impairing the binding and absorption of LDLR to low-density lipoprotein ( LDL).

Conclusion
LDLR c.415G > A is a pathogenic variant in FH; it causes a significant reduction in LDLR’s capacity to bind LDL, resulting in impaired LDL uptake. These findings expand the spectrum of variants associated with FH.