bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications
Authors: Meng Yunlong , Wang Xinyao , Liu Kangyu , Tang Xingkun , Li Haining , Chen Jianjun , Zhong Zilin 
Published: February 2025

Abstract

Background
Among the disease-causing genes associated with X-linked intellectual disability (XLID), KDM5C is one of the most frequently mutated ones. KDM5C is a widely expressed gene that is most highly expressed in the brain. KDM5C modulates the transcriptional activity of genes through demethylation of H3K4, thereby regulating neural development and normal function. We identified a gene from a Chinese family and found that a nonsense mutation of KDM5C was co-segregated with the intellectual disability (ID).

Methods
The candidate mutant genes of patients with ID phenotype were screened by Whole Exome Sequencing (WES), and DNA Sanger sequencing was performed for genetic analysis. Pathogenicity prediction tools were used to evaluate the pathogenicity of new mutations. The fusion plasmid was constructed and transfected into the cells, and the changes of mRNA and protein levels of the mutants were detected by semi-qRT-PCR and Western Blot, and the subcellular localization changes of mutant proteins were detected by Immunofluorescence technique.

Result
The nonsense mutation in KDM5C (c.2785 C > T, p. R929X) was identified by whole exome sequencing (WES) and confirmed by Sanger sequencing, resulting in a truncated protein. The mutation was determined by pathogenicity prediction tool able to find non-sense mediated mRNA decay (NMD). Semi-qRT-PCR and Western Blot showed that the mRNA levels of the mutant gene were down-regulated, while the protein level was up-regulated. Additionally, the subcellular localization of the mutant protein changed.

Conclusions
The KDM5C mutation found in our study leads to changes in protein levels through NMD and/or protein degradation, and produces residues lacking nuclear localization, thus altering the subcellular localization of the protein. These results may lead to changes in the expression of KDM5C target genes, ultimately contributing to the clinical phenotype observed in the patients.
Impact of the intensity of infection in birds on Plasmodium development within Culex pipiens mosquitoes
Authors: Isaïa Julie , Baur Molly , Wassef Jérôme , Monod Sarah , Glaizot Olivier , Christe Philippe , Pigeault Romain 
Published: February 2025

Abstract

Background
In vector-borne diseases, invertebrate hosts are exposed to highly variable quantities of parasites during their blood meal. This heterogeneity may partly explain the overdispersed distribution of parasites within the vector population and the variability in the extrinsic incubation period (EIP) of the parasite. Indeed, the quantity of parasites ingested is often considered as a good predictor of the quantity of parasites that will develop within the vectors, as well as the speed at which they will develop (i.e. EIP). However, density-dependent processes can influence the relationship between parasite burden in the vertebrate host and in vectors, making this relationship unclear at times.

Methods
Here, we used an avian malaria system to investigate whether the proportion of red blood cells infected by sexual and/or asexual stages of Plasmodium relictum influences the intensity of infection and the EIP within vectors. For this purpose, we experimentally infected 12 birds in order to generate a range of infection intensity. More than 1000 mosquitoes took a blood meal on these hosts, and the development of Plasmodium within the vectors was followed for more than 20 days.

Results
Our study reveals a negative relationship between the intensity of infection in birds and the time until 10% of mosquitoes become infectious (EIP10). A period of only 4 days was sufficient to detect sporozoites in at least 10% of mosquitoes fed on the most infected hosts. However, the number of sporozoites did not vary significantly according to the vertebrate host intensity of infection, but was positively correlated to the oocyst burden (parasitic stage preceding the sporozoite stage).

Conclusions
While the quantity of ingested parasites had no impact on oocyst and sporozoite burden in infectious mosquitoes, the EIP10 was affected. Studies have demonstrated that small changes in the EIP can have a significant effect on the number of mosquitoes living long enough to transmit parasites. Here, we observed a difference of 4–6 days in the detection of the first sporozoites, depending on the intensity of infection of the bitten vertebrate host. Considering that a gonotrophic cycle lasts 3–4 days, the shortened EIP may have significant effects on Plasmodium transmission.

Graphical Abstract
Translating and communicating evidence on allergy prevention in children to parents: implementation study protocol
Authors: Lander Jonas , Altawil Hala , Apfelbacher Christian , Bitzer Eva Maria , Brandstetter Susanne , Fillenberg Barbara , Hartmann Marius , Holmberg Christine , von Sommoggy Julia , Dierks Marie-Luise 
Published: February 2025

Abstract

Background
When seeking advice on allergy prevention in early childhood (Early Childhood Allergy Prevention, ECAP), parents often turn to health and social care providers, such as paediatricians, midwives, and family centres. However, these actors fulfil various, often care-related, roles, and cannot be considered ‘health information providers’ by default. In addition, although the scientific evidence for ECAP is often known by health professionals, it is not actively communicated. In this study protocol, we describe the planned procedure for the development and implementation of a process to communicate ECAP information to parents, with a focus on reaching out to those from migrant communities. Thereby, we also aim to contribute to the understanding of how to design more robust approaches to deliver health information.

Methods
We have chosen the Implementation Research Logic Model as our framework for a multi-stage process. Firstly, we will map regional and local health and social care providers to find potential providers of ECAP information. We will then approach actors from each mapping category for qualitative interviews to assess facilitators and barriers to implementation. Next, we will define actions to ease the implementation process, develop exemplary ECAP information materials for parents, and deliver these to pre-selected health and social care individuals and organizations. Each step will be adapted to meet the needs and preferences of culturally and linguistically diverse populations. Finally, the process will be evaluated for key implementation outcomes (e.g., acceptability, feasibility, effectiveness) by interviewing information providers and surveying information recipients.

Discussion
From a Public Health perspective, studies seem warranted that investigate how evidence from health research may be effectively communicated to the public, rather than merely focusing on, e.g., intervention development. Also, it has often been highlighted that the dissemination of health information needs to better target those who face the greatest difficulties when seeking advice, i.e. individuals/parents who recently migrated. ECAP is a good use case, as scientific evidence is constantly evolving, and the communication of information is hampered by low awareness of high quality sources.
A comparative study of using scorpion antivenom versus scorpion antivenom and prazosin drug for scorpion stings management in Sohag University Hospitals
Authors: Shokry Zaghary Meray Medhat , Abd ElKader Mai Mostafa 
Published: February 2025

Abstract

Background
Scorpion envenomation is a worldwide problem, especially in tropical and subtropical areas like Egypt. Scorpion envenomation is responsible for the high mortality rate all over the world, which makes much research carried out to see the efficacy of other drugs as supportive treatment in addition to antivenom.

Aim
To see the efficacy of prazosin drug with scorpion antivenom compared to antivenom alone.

Methods
It is a prospective randomized comparative study between two groups from February 2023 to July 2024. Each group is 50 cases to compare the efficacy of prazosin with antivenom (group 1) and the antivenom alone (group 2) in scorpion stings cases.

Results
The median age of the 100 cases was 7 years old. 54% of the study population were males. 46% of cases were females. Most of the cases were from rural areas. There was no significant difference in age, sex, and the patients’ residence between the two groups. There was no significant difference between the 2 groups regarding the duration of stay in the hospital till mortality or discharge, with a median of 3 days in each group. However, there was a significant difference in the antivenom received in each case between the 2 groups, with a median of 6 vials in group 1 and 9 vials in group 2. Mortality and complications were observed to occur more in group 2 than in group 1 despite the insignificant p values. The study’s mortality rate was 14%, 4/50 (8%) in group 1 and 10/50 (20%) in group 2. The number of antivenoms significantly increased with an increase in duration of stay, heart rate, respiratory rate, troponin level, and mortality outcome. While the number of antivenoms significantly decreased with the rise in systolic and diastolic blood pressure.

Conclusion and recommendations
: The study concluded that prazosin can be added to antivenom to increase its efficacy and decrease the number of needed antivenoms. Prazosin is a safe drug when used with precautions to avoid the first-dose phenomenon. Prazosin decreases complications and mortality when added to antivenom, but not significantly. The study recommends using prazosin with precautions for all manifested scorpion cases with antivenoms to increase the efficacy of the antivenom and treat the adrenergic manifestation.
Chromosome number variation and phylogenetic divergence of East Asian Cirsium sect. Onotrophe subsect. Nipponocirsium (Compositae), with a new species from Taiwan
Authors: Chang Chih-Yi , Liao Pei-Chung , Tzeng Hsy-Yu , Kusumi Junko , Su Zhi-Hui , Tseng Yen-Hsueh 
Published: February 2025

Abstract

Background
This study explored chromosome number variation, phylogenetic divergence, and mechanisms underlying speciation in East Asian thistle Cirsium Mill. sect. Onotrophe (Cass.) DC. subsect. Nipponocirsium Kitam. (Compositae). The study focused on the newly identified species from Taiwan: Cirsium pengii Y.H. Tseng, P.C. Liao & Chih Y. Chang. Utilizing phylotranscriptomic data to reconstruct evolutionary relationships between the Taiwanese and Japanese taxa of Cirsium subsect. Nipponocirsium as well as their divergence times and chromosomal characteristics. Additionally, the chromosome number, morphology, and pollen morphology of the unknown Cirsium taxon are compared with other known subsect. Nipponocirsium taxa from Taiwan.

Results
Phylotranscriptomic analysis reveals a division within subsect. Nipponocirsium into Japanese and Taiwanese clades. In the Taiwanese clade, C. pengii is basal, while C. tatakaense remains monophyletic with other Taiwanese species despite higher genetic diversity. The prevalent chromosome number in this subsection is tetraploid (2n = 4x = 68), common in Japanese taxa, while Taiwanese members have 2n = 4x = 64. Notably, C. pengii has a diploid number (2n = 32), indicating descending dysploidy followed by polyploidization in Taiwan. This polyploidization, driven by glaciations, likely shaped the evolution of Nipponocirsium. Divergence time estimates suggest the separation of Japanese and Taiwanese clades around 0.74 million years ago (Myr) during glacial periods. Cirsium pengii diverged around 0.47 Myr, while tetraploid species C. kawakamii and C. tatakaense diverged around 0.35 Myr. These species likely evolved in separate refugia, with distinct species boundaries confirmed through species delimitation analysis, karyotype, morphology, and pollen morphology comparisons.

Conclusions
These findings enhance our understanding of chromosomal evolution and speciation within subsect. Nipponocirsium and underscore the importance of integrating transcriptomic data in phylogenetic studies. This study provides a comprehensive framework for further investigations into the genetic diversity and adaptive mechanisms of this ecologically vital group.
Investigating the shared genetic structure between rheumatoid arthritis and stroke
Authors: Qin Qian , Jiang Yong’An , Fan Hengyi , Yuan Raorao , Zhong Bo , Zhang Yichen , Zhang Zile , Lei Xin , Cai Jianhui , Cheng Shiqi 
Published: February 2025

Abstract

Background
Rheumatoid arthritis (RA) increases the risk of stroke. However, the relationship between RA and stroke remains unclear. This study aimed to explore the shared genetics architecture (i.e., common genetic basis between different traits, diseases, or phenotypes) of RA and stroke, aiming to improve the intervention and management of patients with RA and stroke.

Methods
Pooled statistics from publicly available genome-wide association studies for RA (8,255 cases and 409,001 controls) and stroke (43,132 cases and 43,132 controls) were used. A genome-wide positive association was conducted to (examine the comprehensive effects of genetic variants on a particular trait, disease, or phenotype at the genome-wide scale). Local genetic correlation studies used linkage disequilibrium score regression and super genetic covariance analyzer. Single nucleotide polymorphisms (SNPs) at risk were identified using genome-wide association study multiple trait analysis and PLINK software (P

snp
<5e-08), followed by functional localization and annotation using Functional Mapping and Annotation of Genome-Wide Association Studies to identify specific genes and genetic variants that may contribute to the disease. Finally, a transcriptome-wide association study explored the relationship between genes and their association with RA risk.

Results
A genome-wide significant positive correlation was evident between RA and stroke (genetic correlation = 0.3756). Among the localized genomic regions, the correlation between RA and stroke in the region of chr2:201572564–202,829,668 was the most significant (p = 0.0015). We identified 179 significant SNPs and five common risk genes for RA and stroke (IRF5, RNASET2, ZNF438, UBE2LS, and SYNGR1). These genes are involved in the immune-inflammatory pathway.

Conclusions
The findings suggest a shared genetic structure between RA and stroke. These findings may provide new insights into RA and stroke pathogenesis, and contribute to the development of new diagnostic markers and therapeutic targeted drugs to improve the clinical outcomes of patients with RA and stroke.
CT-guided high-dose-rate brachytherapy ablation of HCC patients with portal vein tumor thrombosis
Authors: Auer Timo Alexander , Ranner-Hafferl Marie-Luise Helene Hildegard , Anhamm Melina , Böning Georg , Fehrenbach Uli , Mohr Raphael , Geisel Dominik , Kloeckner Roman , Gebauer Bernhard , Collettini Federico 
Published: February 2025

Abstract

Background
We assessed the safety and efficacy of computed tomography (CT)-guided high-dose-rate (HDR) brachytherapy in treating hepatocellular carcinoma (HCC) with portal vein tumor thrombosis (PVTT).

Methods
From January 2010 to January 2022, 56 patients (median age 67.5 years) with HCC and PVTT underwent 64 procedures. PVTT was further classified according to the Japan liver cancer study group into VP1–VP4. Tumor response was evaluated by cross-sectional imaging 6 weeks after CT-guided HDR brachytherapy and every 3 months thereafter. Local tumor control (LTC), progression-free survival (PFS), and overall survival (OS) were assessed using Kaplan–Meier curves. The severity of procedure-related complications was classified according to the Society of Interventional Radiology guidelines.

Results
Patients were available for imaging evaluation for a median follow-up of 14.0 months. The median diameter of the largest lesion was 56 mm. Estimated median PFS, LTC, and OS were 7.0 (95% CI 5.0–13.0), 14.0 (95% CI 7.0–21.0), and 20.0 (95% CI 13.0–26.0) months respectively. Actuarial 1-, 2-, and 3-year OS rates were 66%, 41%, and 27%, respectively. Subclassified for VP1, VP2, VP3, and VP4 estimated OS was 38.0 (95% CI 9.0-Not-a-number), 21.5 (95% CI 15.0–25.0), 15.0 (95% CI 7.0–33.0), and 13.0 (95% CI 6.0–34.0) months, respectively. Considering the 64 procedures, we recorded no complications for 49 (76.6%), mild-to-moderate complications for 12 (18.8%), and major complications for 3 (4.7%).

Conclusion
CT-guided HDR brachytherapy was safe and effective for locoregional treatment in patients with advanced HCC due to PVTT, achieving long-lasting local tumor control.

Relevance statement
CT-guided HDR brachytherapy is an option to be considered for locoregional treatment of patients with advanced HCC due to PVTT.

Key Points

Evaluation of CT-guided high-dose-rate (HDR) brachytherapy in treating HCC patients with portal vein tumor thrombosis (PVTT).

Median OS was 20.0 months ranging between 13.0 and 38.0 months.

CT-guided HDR brachytherapy seems to be a safe and effective treatment option in HCC patients with PVTT.

Graphical Abstract
Bioconvergence: advancing biosensors with nanotechnology for real-time health monitoring
Authors: Mishra Rosaline , Minocha Sakshi , Goel Radha , Gaur Praveen Kumar , Lata Kanak , Singh Rashmi 
Published: February 2025

Abstract

Background
Biosensors are tools that are products of amalgamation of biological constituents and physicochemical elements so as to detect analytes, based on signal production which is measurable. Thus here we can see an assimilation of biology and microelectronics. Keeping a track of biochemical processes in a human system is essential; thus, there is an increasing need for extremely sensitive and economical devices which can make precise diagnosis and personalised medication treatment possible.

Objective
This review focuses upon the novel innovations in the field of biosensors, namely making use of nanotechnology in the form of nanomaterials such as graphene, gold nanoparticles, quantum dots, and sulphur-containing nanomaterials.

Method
A thorough evaluation of the literature was done. Databases like SciFinder, ScienceDirect, PubMed, Google, Google Scholar, and the Egyptian Knowledge Bank were used to find pertinent publications. More than 500 articles and databases were studied to constitute this paper. The accuracy of the retrieved data was carefully reviewed and cross-checked. Selection of nanomaterial for the creation of biosensors was studied: Nanomaterials (such as graphene, carbon nanotubes, and quantum dots) according to their special qualities (such as high surface area, biocompatibility, and sensitivity) were selected.
A thorough study on biomolecular integration was done: To gain knowledge on extremely sensitive and selective biosensors for target analytes, integrate particular biomolecules (such as enzymes, aptamers, and antibodies) onto nanomaterials and also data on manufacturing of sensors were utilised; sophisticated manufacturing methods (such as self-assembly and lithography) to build biosensors that have exact control over the arrangement of nanomaterials and biomolecules were studied.
Signal Transduction: To transform biomolecular interactions into quantifiable signals, effectively develop signal transduction systems (e.g. electrochemical, optical, mechanical). Real-time Monitoring: For ongoing, non-invasive health monitoring, include biosensors with wearable technology or point-of-care diagnostics. Data analysis: To interpret and analyse biosensor signals for precise and rapid health evaluations, apply machine learning techniques and sophisticated data analysis algorithms.

Result
After applying article selection criteria and reviewing the quality of the methodology, a total of 200 articles were selected to be included in the review.

Conclusion
The combination of biology and nanotechnology, or "bioconvergence", has enormous potential to transform healthcare. Biosensors for real-time, non-invasive health monitoring can be built by utilising the distinct qualities of nanomaterials and the specificity of biomolecules. This technology could lead to a more efficient and individualised healthcare system by improving disease diagnosis, treatment, and overall patient outcomes.
Human-bat contacts in the Netherlands, and potential risks for virus exchange
Authors: Begeman L. , Geschiere M. J. M. , de Boer W. F. , van den Brand J. M. A. , Eblé P. L. , van der Kerkhof J. H. T. C. , Keur I. , Lina P. H. C. , Reusken C. B. E. M. , de Rosa M. , Schillemans M. J. , Schreuder I. , Swaan C. M. , van Zoonen K. , Kuiken T. 
Published: February 2025

Abstract

Background
Contacts between people and free-ranging animals have a potential to cause viral disease epidemics when novel viruses are exchanged. The Netherlands has approximately 18 native bat species, of which some generally use buildings for roosting, and has a dense human population. Frequent indirect and direct contacts between bats and humans could thus be expected, however, this has hardly been studied.

Methods
To study human-bat contacts, people living in the Netherlands were questioned about the type and frequency of their bat contacts, their bat knowledge and perception of bats. For analyses respondents were grouped into (1) general population, (2) bat contact risk group, and (3) people that live in a house with a roost site for a Common Pipistrelle Bat maternity group. Associations between human-bat contacts and other variables were tested by an ordinal logistic regression model.

Results
We show that 85% (226/265) of group 1 reported no contacts, while 11% (28/265) reported indirect, and 4% (11/265) direct contacts with live bats, dead bats or bat products as their closest type of contacts. These contacts occurred mostly less than yearly. Somewhat similarly, the majority, 69% (9/13) of group 3 reported no contacts, and 15% (2/13) reported indirect contacts and 15% (2/13) reported direct contacts. These occurred monthly to less than yearly. In contrast, a minority, 5% (11/227) in group 2 reported no contacts, while 37% (85/227) reported direct bat contacts, mostly yearly, and 38% (86/227) reported bat-related injury, mostly less than yearly, as their closest type of contact. Overall, an increase in knowledge on bats and bat-related diseases was correlated with closer bat contacts.

Conclusions
We conclude that even though bats live close to people in the Netherlands, direct contacts between bats, or bat products, and humans are rare in people from the general population, while being common in people involved in bat-related work. Mitigation of human-bat contacts will be most efficient when targeted to specific groups that are likely to have contacts with bats.