bluuebunny/crossref_metadata_2025_split huggingface dataset:
sTREM2 in discordant CSF Aβ42 and p‐tau181
Authors: Li Danni , Mantyh William G. , Men Lu , Jain Ishika , Glittenberg Matthew , An Binchong , Zhang Lin , Li Ling ,   for the Alzheimer's Disease Neuroimaging Initiative
Published: January 2025

AbstractINTRODUCTIONLittle is known about the factors underpinning discordant cerebrospinal fluid (CSF) amyloid beta (Aβ)42 versus p‐tau181/Aβ42 or CSF Aβ42 versus Aβ positron emission tomography (PET).METHODSWe stratified 570 non‐demented Alzheimer's Disease Neuroimaging Initiative (ADNI) participants by Aβ PET and further by CSF Aβ42 or p‐tau181/Aβ42. We used analysis of covariance testing adjusting for covariates, followed by Tukey post hoc pairwise comparisons, to compare CSF soluble triggering receptor expressed on myeloid cells‐2 (sTREM2) across four participant groups: CSF+ Aβ42 with CSF− p‐tau/Aβ42, CSF− Aβ42 with CSF+ p‐tau/Aβ42, and concordant CSFAβ42/CSFp‐tau/Aβ42. We also compared sTREM2 across discordant and concordant CSFAβ42/PET.RESULTSRegardless of Aβ PET status, CSF+Aβ42 with CSF−p‐tau/Aβ42 had lower sTREM2 than CSF−Aβ42 with CSF+p‐tau/Aβ42. CSF sTREM2 was similarly also associated with discordant CSF Aβ42 /PET.DISCUSSIONOur study suggests the potential roles of sTREM2 in discordant CSF Aβ42 and p‐tau181/Aβ42 and discordant CSFAβ42/PET. Low‐ and high‐CSF sTREM2 may affect the accuracy of p‐tau181/Aβ42 during the clinical work‐up of AD.Highlights
17% of non‐demented older adults had discordant CSF Aβ42 versus p‐tau181/Aβ42.
sTREM2 differed between discordant cases of CSF Aβ42 versus p‐tau181/Aβ42.
20% of non‐demented older adults had discordant CSF Aβ42 versus Aβ PET.
sTREM2 also differed between discordant cases of CSF Aβ42 versus Aβ PET.
p‐tau181/Aβ42 may miss 6.7% of PET+ non‐demented older adults with low sTREM2.
Power Superposition Control Method of Power for Position Sensor Using a Single‐Phase Transformer on the Power Lines of a PMSM
Authors: Kiribuchi Takeshi , Inoue Yukinori , Morimoto Shigeo 
Published: January 2025

ABSTRACTIn this paper, a method for extracting constant power from transformers on power lines is presented. The secondary side power equation is obtained based on the circuit equation for power superposition using a single‐phase transformer. Using this equation, an area discrimination method of the speed versus torque characteristics of the permanent magnet synchronous motor and a power superposition control method in the area are proposed. To validate the proposed method, the discrimination method was verified via simulation and experiment with boundary conditions. Similarly, the power superposition control method was verified via simulation and experiment, with the command current controlled using a power estimator. The results verify the discrimination and power superposition control methods.
APOC1 inhibit NKTCL doxorubicin sensitivity by promoting mitophagy
Authors: Xiao Sa , Kuang Jing , yang Jiamei , Wang Haili , sun Yuanyuan , Zhang Haipeng , Zhang Zhongyu , Shi Mengyuan , Qi Kai , Jiang Miao , Zhang Yanyan , Chen Qingjiang , Zhang Xudong 
Published: January 2025

AbstractNKTCL is a highly aggressive malignant tumor, especially prevalent in the southern regions of China. Although chemotherapy regimens based on ADM have achieved certain therapeutic effects in early treatment, the issue of ADM resistance severely limits the therapeutic efficacy and makes it difficult to improve patient survival rates. Our research results indicate that the expression level of APOC1 is closely related to the sensitivity of NKTCL cells to ADM. The upregulation of APOC1 may promote mitophagy, clear damaged mitochondria, stabilize the intracellular environment, and enhance the tolerance of tumor cells to ADM. Furthermore, APOC1 may further affect the formation of mitophagy and drug resistance by activating specific signaling pathways, such as the STAT3 signaling pathway. Animal experiments further confirm the conclusions of in vitro experiments, showing that APOC1 regulates mitophagy through p‐STAT3Tyr705, thereby promoting the drug resistance of NKTCL. These findings provide a new perspective for the development of novel therapeutic strategies targeting APOC1 and its associated signaling pathways, which may help overcome the issue of ADM resistance in NKTCL.
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Authors: Leslie Alison C. , Jarnes Jeanine , Ahmed Alia , Shrestha Sofia , Wang Jeffrey , Whitley Chester B. , Pillai Nishitha R. 
Published: January 2025

AbstractFabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease. A family is presented here with a 36‐year‐old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70‐year‐old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.1087C>T (p.R363C). Interestingly, the proband's Lyso‐GL‐3 levels were lower than her father's despite her more severe clinical presentation. The discordance between clinical severity and Lyso‐GL‐3 levels, particularly in the context of migalastat therapy, raises questions about the appropriate interpretation and use of this biomarker. The earlier and more severe symptom onset in the female proband suggests the potential role of genetic modifiers or other factors influencing disease expression. This report underscores the complexity of Fabry disease phenotypes and the limitations of current biomarkers in predicting disease severity, particularly in females. The observed paradox between clinical symptoms and biomarker levels suggests the need for a deeper understanding of the underlying mechanisms driving phenotypic variability in Fabry disease.
Risk Factors for Co‐Infections in Patients With Severe Fever With Thrombocytopenia Syndrome
Authors: Sun Shu‐Han , Liu Ruo‐Nan , Zhang Shu‐Jing , Wang Zhong‐Xin 
Published: January 2025

ABSTRACTSevere fever with thrombocytopenia syndrome (SFTS) is an emerging viral hemorrhagic fever with a high fatality rate and notable public health impact, caused by a novel phlebovirus, primarily transmitted through infected tick bites. This study aimed to assess the prevalence of co‐infections among hospitalized patients with SFTS, characterize isolated pathogens, and evaluate demographics, clinical features, and laboratory variations to identify potential risk factors for co‐infections. In a cohort of 78 SFTS patients categorized into co‐infection and non‐co‐infection groups, 44.9% (35/78) experienced co‐infections, with a 25.7% mortality rate in that subgroup. Pulmonary and bloodstream infections, particularly fungal infections, were most common, and earlier onset of co‐infections correlated with higher fatality. Univariable logistic regression identified significant risk factors, followed by multivariable analysis to determine independent predictors. Changes in mental status, hemorrhage, deep venous or arterial catheterization, mechanical ventilation, activated partial thromboplastin time (APTT) > 55 s, albumin < 37.5 g/L, interleukin‐6 > 18.700 pg/mL, and interleukin‐10 > 21.300 pg/mL emerged as significant risk factors, with hemorrhagic symptoms and low albumin remaining independent predictors. Internal validation through bootstrap resampling yielded a mean area under the receiver operating characteristic curve of 0.795 (95% CI: 0.706–0.868). These findings suggest that early recognition of these predictors may improve co‐infection management in SFTS patients, leading to better clinical outcomes and more informed clinical decisions.
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
Authors: Nakamura Kohta , Yatsuka Yukiko , Naito Sachie , Hasegawa Akira , Kasukawa Takeya , Kondo Atsushi , Kishita Yoshihito , Sugiyama Yohei , Onuki Takanori , Ebihara Tomohiro , Tsuruoka Tomoko , Fushimi Takuya , Ohtake Akira , Murayama Kei , Imai‐Okazaki Atsuko , Okazaki Yasushi 
Published: January 2025

ABSTRACTBackgroundSengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.MethodsWe employed a comprehensive genomic analysis approach, including whole‐genome sequencing and RNA sequencing, combined with various bioinformatics tools.ResultsOur analysis successfully diagnosed Sengers syndrome in a patient by detecting a known pathogenic variant and a previously unreported large deletion involving the AGK gene in a segmental duplication.ConclusionThis study demonstrates the effectiveness of combining multiple genomic analysis approaches for the accurate diagnosis of Sengers syndrome, particularly in cases involving complex genetic variations such as large deletions in segmental duplications.
Synthesis, Characterization, and In Vitro and In Silico Studies of Substituted‐Vanillin Hydrazones of Anthranilic Acid and Their Quinazolin‐4(3H)‐One Analogues as Anti Breast Cancer Agents
Authors: Hacıosmanoğlu‐Aldoğan Ebru , Çakır Furkan , Yetke Hande İpek , Tokalı Feyzi Sinan , Şenol Halil 
Published: January 2025

AbstractThis study synthesized a total of 18 new anthranilic acid hydrazones and quinazolin‐4(3H)‐one derivatives, evaluating their cytotoxicity against the MCF7 and HUVEC cell lines. The anticancer effects of these compounds and their interactions with estrogen receptor alpha (ERα) and HER2 through molecular docking and molecular dynamics simulations. Cytotoxicity assays revealed that most compounds exhibited higher selectivity for MCF7 cells compared to HUVEC cells, with compounds 12, 13, 14, 23, and 29 showing superior efficacy over the standard drug 5‐fluorouracil (5‐FU). Notably, compound 12 displayed the highest selectivity index (SI = 3.9) and an IC50 of 77.3 µM against MCF7 cells. Compounds 14 and 29 also demonstrated significant selectivity indices of 3.0 and 3.5, respectively, with IC50 values of 111.4 µM and 74.0 µM against MCF7 cells. Molecular docking studies identified compounds 14 and 29 as strong inhibitors of ERα and HER2, with stable interactions and favorable binding profiles in docking and MD analyses. Furthermore, ADME analysis indicated good drug like properties for most compounds, aligning with Lipinski's rule of five, supporting their potential as orally bioavailable drugs. This research highlights compounds 14, and 29 as promising candidates for targeted breast cancer therapy via inhibition of ERα and HER2
Tuning the Spin State of Co Accelerates Hydrogen Evolution Reaction of Pt Nanoparticles
Authors: Zheng Qian , An Wei , Pan Jianxin , Yu Fengshan , Du Yizhang , Cui Jian , Song Weiyu , Xu Shengming , Wang Chunxia , Huang Guoyong , Yan Yi‐Ming 
Published: January 2025

ABSTRACTThe quest for dynamic and cost‐effective electrocatalysts to substitute carbon‐supported platinum (Pt) in alkaline hydrogen evolution reaction (HER) remains a pressing challenge. The incorporation of transition metal atoms through electron donation and spin regulation dominates the HER performance of Pt nanoparticles. Herein, we demonstrate that Co‐N coordination was utilized to regulate and stabilize the chemical microenvironment of Pt nanoparticles to fabricate hybrid electrocatalysts (Pt/CoNC). The resultant Pt/CoNC delivers ultralow overpotentials of 15.2 and 171.2 mV at current densities of 10 and 100 mA cm−2, surpassing commercial Pt/C. The poisoning tests, where η10 values of Pt/CoNC depict negative shifts of 161 and 13 mV by potassium thiocyanide (KSCN) and ethylenediaminetetraacetic acid disodium (EDTA), suggest the combined impact of Pt nanoparticles and Co‐N coordination on HER, with Pt nanoparticles playing a decisive role. The magnetic characterization and spin density diagrams reveal that Pt induces a higher spin state of Co2+, creating a wider spin‐related channel for electron donation to Pt. Moreover, Co‐N effectively modifies the electronic structure of Pt, thereby reducing the energy barriers for H2O dissociation (from 0.41 to −0.22 eV) and H2 generation (from −0.35 to 0.03 eV). This finding provides insights to fabricate advanced electrocatalysts through regulating spin state and modulating interfacial electron transfer.
Direct Methane to Methanol Conversion: An Overview of Non‐Syn Gas Catalytic Strategies
Authors: Rajeev Anjana , Mohammed Thasnim P , George Akhila , Sankaralingam Muniyandi 
Published: January 2025

AbstractDirect methane to methanol conversion is a dream reaction in industrial chemistry, which takes inspiration from the biological methanol production catalysed by methane monooxygenase enzymes (MMOs). Over the years, extensive studies have been conducted on this topic by bioengineering the MMOs, and tailoring methods to isolate the MMOs in the active form. Similarly, remarkable achievements have been noted in other methane activation strategies such as the use of heterogeneous catalysts or molecular catalysts. In this review, we outline the methane metabolism performed by methanotrophs and detail the latest advancements in the active site structures and catalytic mechanisms of both types of MMOs. Also, recent progress in the bioinspired approaches using various heterogeneous catalysts, especially first‐row transition metal zeolites and the mechanistic insights are discussed. In addition, studies using molecular complexes such as “Periana catalyst” for methane to methanol conversion through methyl ester formation in the presence of strong acids are also detailed. Compared to the progress noted in the metal zeolites‐mediated methane activation field, the utilisation of molecular catalysts or MMOs for this application is still in its nascent phase and further research is required to overcome the limitations of these methods effectively.
Impact of Antithrombotic Therapy on Thrombotic and Bleeding Complications after Elective Endovascular Repair of Abdominal Aortic Aneurysms
Authors: Kranendonk Josephine , Vermulst Ad A. , van der Veen Daphne , Kramers Cornelis , Warlé Michiel C. , Reijnen Michel M. P. J. 
Published: January 2025

Abstract

Purpose
To investigate the influence of antithrombotic therapy on occurrence of thrombotic and bleeding complications after endovascular aneurysm repair (EVAR).

Methods
In this retrospective single-center cohort study, patients who underwent elective endovascular aneurysm repair for abdominal aortic aneurysm were categorized into three antithrombotic groups: single antiplatelet therapy (SAPT), anticoagulants, or dual antiplatelet therapy (DAPT). Outcome measures were the incidence of major adverse cardiovascular events (MACE), prosthetic limb occlusions, and bleeding complications during follow-up.

Results
Among 616 patients (SAPT: n = 450, anticoagulants: n = 84, and DAPT: n = 82), Kaplan–Meier analysis showed no significant difference (log-rank p = 0.37) in incidence of MACE between patients receiving SAPT (20.9%), anticoagulants (25.0%), and DAPT (14.6%) during a median follow-up of almost 4 years. In multivariable Cox regression analysis, only age (HR = 1.03; 95% CI 1.01–1.06, p = 0.01) and American Society of Anesthesiologists (ASA) classification (HR = 1.46; 95% CI 1.12–1.91; p = 0.01) were significant predictors for MACE. Prosthetic limb occlusion was observed in 38 patients during a median follow-up of 4 years; incidence between patients receiving SAPT (5.8%), anticoagulants (10.7%), and DAPT (3.7%) was not significantly different (log-rank p = 0.08). Age (HR = 0.96; 95% CI 0.92–1.00; p = 0.03) and use of anticoagulants (HR = 3.79, 95% CI 1.46–9.83; p < 0.01) were significant predictors for prosthetic limb occlusion. Bleeding complications occurred in 73 patients during median follow-up of almost 4 years, without significant difference (log rank p = 0.06) in incidence between patients receiving SAPT (10.7%), anticoagulants (19.0%), and DAPT (11.0%). ASA classification (HR = 1.74; 95% CI 1.23–2.46; p < 0.01) was a significant predictor for bleeding complications.

Conclusion
Use of anticoagulants after EVAR appears to be associated with a higher risk of prosthetic limb occlusion compared to the use of single or dual antiplatelet therapy.

Graphical Abstract
Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report
Authors: Seeling Carolin , Dahlum Sonja , Marienfeld Ralf , Jan Vera , Rack Brigitte , Gerstenmaier Uwe , Beer Ambros J. , Mayer-Steinacker Regine , Thaiss Wolfgang , Barth Thomas F. E. , Seufferlein Thomas , Gaisa Nadine T. , Stilgenbauer Stephan , Janni Wolfgang , Siebert Reiner , Döhner Hartmut , Gaidzik Verena I. 
Published: January 2025

Abstract

Background
Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome characterized by a high familial incidence of various malignancies. It results from pathogenic/likely pathogenic heterozygous constitutional variants of the TP53 gene. Due to impaired DNA damage repair, conventional cytotoxic therapies or radiotherapy should be avoided whenever feasible to mitigate the high incidence of treatment-related secondary malignancies in these patients. However, there is limited evidence supporting the effectiveness of targeted therapy approaches in LFS patients.

Case presentation
We present the case of a woman with breast cancer and subsequent osteosarcoma, both treated with surgery and chemotherapy. Constitutional genetic germline testing identified a pathogenic TP53 variant in line with the clinical features of Li-Fraumeni syndrome. Subsequent molecular analysis of the osteosarcoma tissue revealed homozygous loss of the CDKN2A gene locus, warranting treatment with CDK4/6 inhibitor palbociclib. Palbociclib therapy was discontinued after one year with no evidence of disease. One year later, ovarian cancer was diagnosed, with molecular analysis indicating interstitial heterozygous loss of the BRCA2 gene locus, providing a rationale for targeted therapy with the PARP inhibitor olaparib.

Conclusions
In the era of accessible and comprehensive genetic and phenotypic tumor profiling, this case study of a patient with Li-Fraumeni syndrome underscores the success of precision oncology in harnessing additional somatic oncogenic driver alterations. Furthermore, it emphasizes the indispensable role of an interdisciplinary molecular tumor board, enhancing the awareness of molecular profiling and targeted therapies in patients with rare cancer susceptibility disorders.
Prevalence and molecular characterisation of Balantioides coli in pigs raised in Italy
Authors: Allievi Carolina , Ponce-Gordo Francisco , Villa Luca , Zanon Alessandro , Valleri Marco , Zanzani Sergio Aurelio , Mortarino Michele , Manfredi Maria Teresa 
Published: January 2025

Abstract

Balantioides coli is the only ciliated protist of both human and veterinary interest and colonises the large intestine of several hosts, including humans and pigs. Given the scarcity of data on B. coli circulation in pigs in Italy, a study was planned to record its prevalence and genetic types and compare the analytical sensitivity of two copromicroscopic techniques. For this purpose, 880 faecal samples were collected from pigs raised in 22 farms located in northern Italy and analysed with the sedimentation and the FLOTAC® dual technique, employing sodium chloride and zinc sulphate flotation solutions, and the Cohen’s kappa coefficient was calculated to assess the agreement between these methods. Conventional PCR to amplify the ribosomal internal transcribed spacer region (ITS) was subsequently performed on 22 samples, one for each farm, which were positive for B. coli cysts by sedimentation; when more than one sequence was detected in the chromatograms, the PCR products were cloned. Overall, 813 samples were positive for B. coli cysts by sedimentation (92.4%), and moderate concordance with the zinc-based FLOTAC® technique was observed, whereas the agreement was slight with the salt-based FLOTAC® technique. Among the 22 sequenced samples, type B was amplified in 19 samples, type A in two samples, and both A and B types were co-expressed in one sample. This study demonstrated a high prevalence of B. coli in Italian pigs; further insights are needed to trace its distribution and genetic polymorphism in other pig production categories and in humans, defining its public health significance.
From frontlines to online: examining target preferences in the Russia–Ukraine conflict
Authors: Tavakkoli Nasim , Çetin Orçun , Ekmekcioglu Emre , Savaş Erkay 
Published: January 2025

Abstract
Distributed denial of service (DDoS) attacks have become a prominent threat in the digital landscape, with their frequency and impact magnifying during geopolitical conflicts. The Ukraine-Russia conflict, which commenced in February 2022, witnessed a surge in DDoS attacks, becoming the most common type of cyber assault during this period. This study examines the frequency and patterns of DDoS attacks throughout the Russo-Ukraine cyberwarfare, identifying the sectors most affected. By analyzing messages from Telegram channels containing IP addresses and URLs, we identified 4,612 unique victim domain names, with 3,090 targeted by Ukrainian hacktivist groups (pro-Ukrainian) and 1,522 by Russian hacktivist groups (pro-Russian). We observed distinct DDoS attack patterns between pro-Ukrainian and pro-Russian collectives. Ukrainian groups exhibited peak activity during May, June, and July, with a noticeable decline towards the end of 2022. In contrast, the pro-Russian group’s activities intensified in late 2022. Our investigation highlights that pro-Ukrainian collectives, particularly ‘IT Army of Ukraine 2022’, were the most active in conducting DDoS attacks and operated with higher synchronicity. Our findings also indicate that crucial portals for information and services, particularly those related to news, government, business, finance, and travel, were consistently targeted by DDoS attacks. The majority of these victim domains lacked adequate DDoS protection during the assaults, with few improving their security measures post-attack. The study also reveals that DDoS attacks predominantly occurred on Saturdays, Sundays, and Mondays. Our results underscore the necessity for enhanced cybersecurity measures in vulnerable sectors to mitigate the impact of DDoS attacks during times of conflict.