bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
Authors: Pang Jialun , Kong Fanjuan , Tang Wanglan , Xi Hui , Ma Na , Sheng Xiaoqi , Peng Ying , Liu Zhiyu 
Published: February 2024

Abstract
Background:Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases with recurrent miscarriage is insufficient.
Case presentation: Here we reported a Chinese family with RPL and genetic analysis of the abortion and parents. A paternally inherited heterozygous missense variant c.1415T>G (p.V472G) and a maternally inherited heterozygous nonsense variant c.2314del (p.M772*) in TMEM67gene were identified by trio-exome sequencing. c.2314del (p.M772*) generated a premature stop codon and truncated protein, was classified as “pathogenic”. c.1415T>G (p.V472G) located in extra-cellular region, was classified as “likely pathogenic”. Biallelic variants in TMEM67 gene cause lethal Meckel syndrome 3, consistent with the proband’s prenatal phenotype.
Conclusion: The current study of the Chinese family expands the pathogenic variant spectrum of TMEM67and emphasizes the necessity of exome sequencing in RPL condition.
The evolutionary journey of the avian foot through its networks
Authors: Carril Julieta , De Mendoza Ricardo , Degrange Federico , Barbeito Claudio , Tambussi Claudia 
Published: February 2024

Abstract

The avian evolutionary pathway led to morphological adaptive variations in their feet. Diverse foot types are accompanied by a complex muscle system, allowing birds to adopt different primary lifestyles, and to display various locomotor and manipulative skills. We provide novel insights of evolutionary and functional significance on the avian foot architecture through Anatomical Network Analysis. Here we show that there is no link between the more complex foot networks and the ability to perform more specialized skills or a higher number of different tasks. Additionally, there is a trend towards the simplification of foot networks on a microevolutionary scale. The anatomical parts largely conserved in living birds and already present in ancestral dinosaurs exhibit the highest connectivity degree, a network parameter related to the constraint of an anatomical part or evolutionary change. Foot networks are phylogenetically constrained and conserved in all birds despite their foot type diversity. We suggest that this scenario could be the result of stabilizing selection, which led the connectivity of anatomical parts of the foot to be conserved.
Altered Gut Microbiota as a Potential Risk Factor for two types of anemia: insights from Mendelian randomization analysis
Authors: Zheng Liji , Chen Yu , zhao junyang , dai shixue , zou xin 
Published: February 2024

Abstract

Background
Numerous observational studies have indicated correlations between gut microbiota and anemia, specific causal relationships remain unclear. We investigated these relationships using Mendelian randomization (MR) analysis.
Methods
We acquired gut microbiota data at the multiple phylogenetic levels (five phyla, 10 classes, 13 orders, 26 families, 48 genera, and 105 species) from the Dutch Microbiome Project. We also gathered data on regarding iron deficiency anemia (IDA) and aplastic anemia (AA) from the Integrative Epidemiology Unit project. We performed MR analysis by methods including inverse variance weighting and median weighting. Next, we performed sensitivity analyses to assess pleiotropy and heterogeneity, ensuring result reliability. Finally, we used data from the MiBioGen consortium as a corroborating control.
Results
For IDA, we identified one class, one order, and three genera associated with decreased risk; three genera associated with increased risk. These included the genus Desulfovibrio (odds ratio [OR]: 0.86, P = 1.45×10^-2), genus Ruminococcus (OR: 0.87, P = 1.81×10^-3), species Streptococcus thermophilus (OR: 0.92, P = 2.08×10^-2), and species Sutterella wadsworthensis (OR: 1.18, P = 3.48×10^-3). For AA, one genus was associated with decreased risk; one phylum, one class, three orders, four families, and five genera were associated with increased risk. These included the genus Parasutterella (OR: 0.83, P = 2.65×10^-2), species Eubacterium hallii (OR: 1.22, P = 4.17×10^-2), genus Dorea (OR: 0.90, P = 3.46×10^-2), genus Anaerotruncus (OR: 1.32, P = 2.00×10^-2), genus Intestinibacter (OR: 1.24, P = 2.05×10^-2), and species Bilophila wadsworthia (OR: 1.30, P = 3.31×10^-2). Both types of anemia had a strong association with the order Clostridiales. The Dutch Microbiome Project results demonstrated superior efficacy, corroborated by data from the MiBioGen consortium.
Conslusions
Our MR analysis offers genetic insights into the associations between gut microbiota and both IDA and AA, providing new avenues for disease prevention and intervention.
Simultaneous microwave absorption and thermal insulation properties of porous rigid mullite by loading SiCN aerogel
Authors: Tian Huijie , Wei Qihong , Xie Junsheng , Wang Hongsheng , Ma Chao , Yuan Keke , Han Daoyang , Wang Hailong , Zhang Rui , Shao Gang 
Published: February 2024

Abstract
Porous rigid mullite is desirable for lightweight and highly efficient thermal insulation in the aerospace field. However, the limited functionality constrains its application. To fulfill the requirements of anti-radar detection and defense stealth, possessing thermal insulation while simultaneously having the ability of electromagnetic wave (EMW) absorption in materials is essential. Herein, porous rigid mullite-based composites with stealth capability and high-temperature resistance were successfully fabricated by assembling SiCN ceramic aerogels (SiCNa) as microwave absorber through high-pressure impregnation-pyrolysis. Benefiting from the inclusion of SiCNa, S1 reached the minimum reflection loss (RLmin) of -49.24 dB at 15.84 GHz, and the effective absorption bandwidth achieved 9.23 GHz. The thermal conductivity of SiCN ceramic aerogels/mullite composites (SMC) decreased initially and then increased. The composites demonstrated quite low high-temperature thermal conductivity (0.086 W·m-1·K-1 at 1000°C of sample S1) with the cooperation of mullite fibers and SiCNa. Furthermore, there was a slight increase in density. The SMC with superior EMW absorption and low thermal conductivity properties making them an ideal material for stealth in weapon systems enduring high temperatures. What’s more, the multifunctional integration of EMW absorption and thermal insulation offers a feasible method for the preparation of defense materials in the future.
Loyal as a robin: Low frequency of extra-pair paternity in European robin population in the primeval forest of Białowieża National Park
Authors: Karpińska Oliwia Lidia , Gwiazdowska Aleksandra , Kamionka-Kanclerska Katarzyna , Rowiński Patryk , Rutkowski Robert 
Published: February 2024

Abstract

Although the robin is a quite common Eurasian bird, little is known about the phenomenon of extra-pair paternity (EPP) within this species, mainly due to its extremely secretive behavior during the breeding season. This study for the first time reveals the level of EPP of the continental subspecies under the primeval forest condition. To analyze the EPP frequency, genetic methods were used (microsatellite genotyping). Three research plots (~30 ha each) were established in a lime-hornbeam and riverine forest, in Białowieża National Park (north-eastern Poland) - the most primeval, lowland forest in the entire temperate zone. The study was conducted in 2018-2019 during the robin’s breeding season (late March - late June) using a combined mapping technique. Upon locating the nests, tail feathers, which were used as a source of DNA, were collected from entire robin families, including adults captured via mist nets. In total genetic material was obtained from a total of 70 robin families. Genotypes of social parents were compared with genotypes of nestlings to assess the occurrence of EPP and identify extra-pair males. We found evidence of EPP in 5.7 % of nests. Accordingly, 5.1 % of nestlings were the offspring of extra-pair males. We accept the assumed hypothesis of the low frequency of extra-pair paternity in the European robin population under the primeval forest condition. The explanations for the low level of EPP can be found in the robins begging behaviour in the pre-breeding period and the female constraint theory.
Nocturia and frailty in older adults: a scoping review
Authors: Komleva Yulia , Gollasch Maik , König Maximilian 
Published: February 2024

Abstract
Background
More than one in two older people wake up several times a night to urinate. Far from being a minor inconvenience, nocturia is associated with poor health outcomes. Given the importance of sleep as a foundation for resilience and healthy ageing, nocturia may promote the development of frailty, which is inextricably linked to physical decline, disability, and mortality.
The aim of this scoping review was to collate published evidence on the relationship between nocturia and frailty, using the methodological framework of Arksey and O'Malley, together with the Joanna Briggs Institute methodology as guidance (OSF registration: osf.io/d5ct7).
Methods
Relevant publications were retrieved from Medline, Embase, the Cochrane Library and Google Scholar. Rayyan was used to facilitate the screening process. Data were extracted by two independent reviewers. 250 publications were initially identified, of which 87 met the eligibility criteria.
Results
Most of the evidence came from cross-sectional studies, most of which had been published within the last 5 years. The researchers were diverse, with 27% having a geriatric background. Only few publications established a clear association between nocturia and frailty. Other topics included: the association between nocturia and poor sleep; the association between poor sleep and frailty; the association between frailty, multimorbidity and age-related changes in the lower urinary tract.
Conclusion
The findings emphasize the increasing interest and interdisciplinary nature of research into the relationship between frailty, nocturia, lower urinary tract symptoms, and sleep disturbance. Further research is required to enhance understanding, establish causality, and identify potential therapeutic approaches.
Forecasting battery degradation trajectory under domain shift with domain generalization
Authors: Zhang Tong-Yi , Tan Ruifeng , Lu Xibin , Cheng Minhao , Li Jia , Huang Jiaqiang 
Published: February 2024

Abstract
Rechargeable batteries play a pivotal role in the transition towards a carbon-neutral future by electrifying transportation and mitigating the intermittency of renewable energies. Forecasting the degradation of batteries is crucial for maximizing their usage. However, predicting battery degradation is not trivial due to complex failure mechanisms and diverse working conditions and chemistries. To tackle this challenge, we develop a deep learning model by leveraging meta-learning-based and task-driven domain generalization techniques. Our model delivers superior performance in forecasting battery degradation trajectories on 182 cells of different chemistries and conditions with few or no target-domain training data. Moreover, we explore the interpretability of the model and find that the model might gain generalization capability by learning domain gaps that are similar to the differences of degradation modes behind various operational conditions. Collectively, our work not only showcases the promise of the high-reliability data-driven model in diverse conditions and chemistries, but also spotlights the potential interplay between artificial intelligence and domain knowledge.
An increase in the fetal fraction can be associated with birthweight discordance and selective fetal growth restriction
Authors: Shi Yiru , Xia Yuanqing , Wang Shan , Hua Renyi , Sun Jinling 
Published: February 2024

Abstract
Background
Twin pregnancies are more likely to be affected by complications such as selective fetal growth restriction (sIUGR) which increase the risk of perinatal mortality and morbidity. Identifying those pregnancies likely to be affected by eiher sIUGR or birthweight discordant early can optimize counseling, the timing of interventions and may, in future, allow trials of preventative treatments.
Objective
The onset of sIUGR often correlates with increased levels of cell-free fetal DNA (cffDNA). Here we tested the hypothesis that the fetal fraction (FF) in twin pregnancies can reflect discrepancies in the birthweights.
Study design
: This is a retrospective study of 237 twin pregnancies who underwent cffDNA screening for aneuploidy and delivered at the International Peace Maternity and Child Health Hospital in Shanghai between January 2018 and December 2021. The FFs and birthweights of the newborns were collected and analysed.
Results
The FF was found to be positively correlated with the difference of birthweights (β = 0.004, 95%CI: 0.001 ~ 0.006). For every 1% increase in the FF, the difference in the birthweight between twins increased by 0.4%. A higher FF was significantly associated with an increased risk of birthweight discordance of 20% (adjusted OR: 1.073, 95% CI: 1.009 ~ 1.142), 25% (adjusted OR: 1.092, 95% CI: 1.006 ~ 1.185) and sIUGR (adjusted OR: 1.130, 95% CI: 1.038 ~ 1.231). Using ROC analysis, we obtained optimum cut-off points for FFs ≥ 11.790 and ≥ 14.800 for birthweight discordance of 20% and sFGR, respectively. Compared with women with FFs of < 11.790, there were a 1.091-fold higher risk of birthweight discordance of 20% (adjusted OR: 2.091, 95% CI: 1.218 ~ 3.591) when the FF was ≥ 11.790. There were also significantly increased risks of birthweight discordance of 25% (adjusted OR: 3.045, 95% CI: 1.297 ~ 7.149) and sFGR (adjusted OR: 3.526, 95% CI: 1.443 ~ 8.618) among women with FFs of ≥ 14.800.
Conclusions
This study showed that the FF was positively correlated with differences in birthweights. In addition, the FF could be used as an indicator to predict birthweight discordance and sIUGR for individualized clinical monitoring of twin pregnancies.
Acute toxicity of the fungicide captan to honey bees and mixed evidence for synergism with the insecticide thiamethoxam
Authors: De Souza Daiana , Urbanowicz Christine M. , Ng Wee Hao , Baert Nicolas , Fersch Ashley A. , Smith Michael L. , McArt Scott H. 
Published: February 2024

Abstract

Honey bees are commonly co-exposed to pesticides during crop pollination, including the fungicide captan and neonicotinoid insecticide thiamethoxam. We assessed the impact of exposure to these two pesticides individually and in combination, at a range of field-realistic doses. In laboratory assays, mortality of larvae/pupae treated with captan was 80–90% greater than controls, dose-independent, and similar to mortality from the lowest dose of thiamethoxam. There was evidence of synergism (i.e., a non-additive response) from captan-thiamethoxam co-exposure at the highest dose of thiamethoxam, but not at lower doses. In the field, we exposed whole colonies to the lowest doses used in the laboratory. Exposure to captan and thiamethoxam individually and in combination resulted in minimal impacts on population growth or colony mortality, and there was no evidence of synergism or antagonism. These results suggest captan and thiamethoxam are each acutely toxic to immature honey bees, but whole colonies can potentially compensate for detrimental effects, at least at the low doses used in our field trial. Further work is needed to assess how compensation occurs, potentially via increased queen egg laying, and whether short-term compensation leads to long-term costs. Other crop pollinators that lack the social detoxification capabilities of honey bees may also be less resilient.
Myocardial Contrast Echocardiography Evaluation of Coronary Microvascular Dysfunction to Predict MACEs in Patients with Heart Failure with Preserved Ejection Fraction Follow-up
Authors: Chen Fuhua , Weng Wenchao , Yang Daoling , Wang Xiaomin , Zhou Yibo 
Published: February 2024

Abstract

Background: Myocardial contrast echocardiography (MCE) is used to evaluate the accuracy of Coronary microvascular dysfunction (CMD) for predicting major adverse cardiac events (MACEs) in patients with heart failure with preserved ejection fraction (HFpEF) at follow-up.
Methods: The clinical data of 142 patients diagnosed with HFpEF in our hospital from January 2020 to January 2022 were retrospectively summarized and stratified into 77 cases (>1) in the CMD group and 65 cases (=1) in the non-CMD group based on the perfusion score index (PSI) of the 17 segments of the left ventricle examined by the admission MCE, and the perfusion parameters were measured at the same time, including the peak plateau intensity (A value), the curve slope of the curve rise (βvalue) and A×β values. At a median follow-up of 27 months till October 2023, MACEs were recorded mainly including heart failure exacerbation, revascularization, cardiac death, etc.
Results: Increasing age, hypertension, diabetes, and coronary artery disease in the CMD group resulted in decreased left ventricular ejection fraction (LVEF), increased plasma NT-B-type natriuretic peptide (BNP) and left ventricular global longitudinal strain (LVGLS), decreased A-values and A×β-values, and an increased incidence of MACEs (P < 0.05). Univariate and multivariate Cox regression analyses showed that LVGLS (HR = 1.714, 95% CI = 1.289 - 2.279, P < 0.001) and A×β values (HR = 0.636, 95% CI = 0.417 to 0.969, P = 0.035) were independent predictors of MACEs in patients with HFpEF. The receiver operating characteristic curve (ROC) showed that the area under the curve (AUC) of LVGLS combined with A×β value for diagnosis of MACEs was 0.861 (95% CI=0.761~0.961, P<0.001), which was significantly higher than that of LVGLS or A×β value (P<0.05). The Kaplan-Meier survival curves showed that the cumulative survival rate in CMD group was significantly lower than non-CMD group (logrank χ2 =6.626, P=0.010), with the most significant difference at 20 months of follow-up.
Conclusion: MCE can evaluate CMD semi-quantitatively and quantitatively, LVGLS combined with A×β value has good performance in predicting the risk of developing MACEs in patients with HFpEF at 3 years of follow-up, and CMD can be used as an important non-invasive indicator for assessing clinical prognosis.
From Text To Insights: Building A Dynamic Dashboard For Sentiment Analysis - A Twitter Case Study
Authors: Adekoya-Cole Temitope , fernando Sandra 
Published: February 2024

Abstract
Platforms like Facebook, Instagram, Snapchat, and Twitter have offered individuals and groups a public forum to share their ideas on numerous social issues and themes in the age of social media. Twitter, a popular social media, and networking tool has evolved into an important source of real-time news and a hub for public opinion. Using Twitter data, this study investigates the possibility applying of sentiment analysis to automatically identify tweets as positive, negative, or neutral and then presenting the results visually, resulting in an in-depth analysis of public opinion. This research project compares two pre-trained sentiment analysis models, VADER and TweetNLP, to determine which model best suits this task. The project concludes with the creation of a dynamic dashboard for sentiment analysis based on Twitter data. This dashboard provides users with real-time insights from text data in a user-friendly way. The dashboard's architecture and style are proficient in analysing sentiment across a wide range of topics and effectively expressing findings using visual aids such as bar charts, time graphs, and word clouds. This research project improves on previous papers that have presented the benefits of sentiment analysis on historic static data by providing evidence for practical applications of real-time sentiment analysis techniques to organisations seeking to understand public sentiment, governments monitoring public opinion, and researchers studying sentiment across multiple topics, serving as a prototype for future development in these domains.
Mosquito bloodmeals can be used to determine vertebrate diversity, host preference, and pathogen exposure in humans and wildlife
Authors: Vieira Carla Julia S. P. , Gyawali Narayan , Onn Michael B. , Shivas Martin A. , Shearman Damien , Darbro Jonathan M. , Wallau Gabriel L. , Hurk Andrew F. van den , Frentiu Francesca D. , Skinner Eloise B. , Devine Gregor J. 
Published: February 2024

Abstract

The surveillance and detection of zoonotic pathogens in animals is essential for predicting disease transmission pathways and the risks of spillover, but challenges include the costs, ethics and technical expertise required for vertebrate trapping, serum sampling and antibody or virus screening. Surveillance using haematophagous arthropods as a sampling tool offers a unique opportunity to obtain blood samples from a wide range of vertebrate species, allowing the study of host-mosquito associations, and host exposure to pathogens. We explored vertebrate diversity and potential Ross River virus (RRV) transmission pathways by analysing blood-fed mosquitoes collected in Brisbane, Australia. Host origins were identified using barcode sequencing, and host exposure to RRV was assessed using a modified plaque reduction neutralisation test. In total, 480 blood-fed mosquitoes were collected between February 2021 and May 2022. The host origins of 346 (72%) bloodmeals were identified, with humans (73%) and cattle (9%) comprising the dominant hosts. RRV seroprevalence was high in both vertebrate species with evidence of RRV exposure in 70% (21/30) of cattle and 52% (132/253) of humans. This is a novel, non-invasive method of estimating seroprevalence in vertebrate host populations. Our results highlight the potential of blood-fed mosquitoes to provide species-specific insights into pathogen transmission dynamics.
Evaluation of an Innovative Casting Method in the Recovery of Footwear Impressions in Soil
Authors: Xie Dongbai , Tang Zhijie , Lai Tian , Hong Hao , Duo Shuwang 
Published: February 2024

Abstract
Three-dimensional (3D) shoeprints taken from crime scenes can more accurately depict impressions than photographs, providing a crucial link between the crime scene and the suspect. This paper introduces rigid polyurethane foam as an alternative material for recovering and preserving 3D footwear impressions in soil. The rigid polyurethane is manufactured through gas expansion, solidifying in a foamed state that consists of a dense integral surface and a durable closed-cell structure beneath the skin layer. It is easily molded, lightweight, dimensionally accurate, and exhibits minimal changes in strength when the foam casts are created and stored indoors. In comparison to casts made with plaster of Paris, this method produces impressions on casts that exhibit more identifiable characteristics, serving as a complementary technique for the forensic science community in reproducing 3D footwear impressions found in soil.