bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in NLRP3 and TNFRSF1A genes
Authors: Kilinc Ozgur Can , Gayibova Konul , Onen Merve Ozkilinc , Onat Umut Inci , Bülbül Alper , Timucin Ahmet Can , Ugurlu Serdal , Turanli Eda Tahir 
Published: May 2024

AbstractTumor necrosis factor type 1A receptor‐associated periodic syndrome (TRAPS) and cryopyrin‐associated autoinflammatory syndrome (CAPS) are rare monogenic autoinflammatory diseases (AIDs) mainly caused by pathogenic variations in the TNFRSF1A and NLRP3 genes, respectively. Here, we describe a unique patient presenting with symptoms overlapping both TRAPS and CAPS, without known pathogenic variants in the respective genes. The patient harbored the p.Val200Met variation in NLRP3 and the p.Ser226Cys variation in TNFRSF1A, prompting us to delve deeper into the functional analysis due to conflicting or inconclusive pathogenicity interpretations of the variants across various databases. Molecular dynamics analysis of the p.Val200Met variation in NLRP3 revealed a rigid conformation in the helical domain 2 subdomain of the NACHT domain. This increased rigidity suggests a potential mechanism by which this variation supports the assembly of the NLRP3 inflammasome. Notably, the patient's peripheral mononuclear blood cells demonstrated an elevated IL‐1β response upon lipopolysaccharides (LPS) induction. Subsequent initiation of anti‐IL‐1β therapy resulted in a significant alleviation of the patient's symptoms, further supporting our hypothesis. We interpret these findings as suggestive of a potential pathophysiological role for the NLPR3 p.Val200Met variation in shaping the patient's clinical phenotype, which was also supported by clinical and genetic analysis of the family. This case underscores the complexity of the genetic landscape in AIDs and highlights the value of combining family genetic and functional data to refine the understanding and management of such challenging cases.
Simpson–Golabi–Behmel syndrome
Authors: Vaisfeld Alessandro , Neri Giovanni 
Published: May 2024

AbstractThe Simpson–Golabi–Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X‐linked semi‐dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance. Intellectual development is normal in most cases. SGBS is caused by a loss‐of‐function mutation of the GPC3 gene, either deletions or point mutations, distributed all over the gene. Notably, GPC3 deletion/point mutations are not found in a significant proportion of clinically diagnosed SGBS cases. The protein product GPC3 is a glypican functioning as a receptor for Hh at the cell surface, involved in the Hh‐Ptc‐Smo signaling pathway, a regulator of cellular growth.
An eosinophil peroxidase activity assay predicts acute exacerbations in post‐operative chronic rhinosinusitis
Authors: Massey Conner J. , Oakley Gretchen M. , Orlandi Richard R. , Ashby Shaelene , Alt Jeremiah A. , Smith Kristine A. , Pulsipher Abigail 
Published: May 2024

Key points
EPX activity has been correlated with eCRS diagnosis and baseline disease severity.
Herein, EPX activity is shown to correlate with post‐operative antibiotic and steroid use in CRS.
EPX activity has potential to act as a prognostic biomarker of CRS disease severity and control.
Surface‐Based Multimeric Aptamer Generation and Bio‐Functionalization for Electrochemical Biosensing Applications
Authors: Hamidi Seyed Vahid , Jahromi Arash Khorrami , Hosseini Imman I. , Moakhar Roozbeh Siavash , Collazos Cesar , Pan Qinghua , Liang Chen , Mahshid Sara 
Published: May 2024

AbstractMultimeric aptamers have gained more attention than their monomeric counterparts due to providing more binding sites for target analytes, leading to increased affinity. This work attempted to engineer the surface‐based generation of multimeric aptamers by employing the room temperature rolling circle amplification (RCA) technique and chemically modified primers for developing a highly sensitive and selective electrochemical aptasensor. The multimeric aptamers, generated through surface RCA, are hybridized to modified spacer primers, facilitating the positioning of the aptamers in the proximity of sensing surfaces. These multimeric aptamers can be used as bio‐receptors for capturing specific targets. The surface amplification process was fully characterized, and the optimal amplification time for biosensing purposes was determined, using SARS‐CoV‐2 spike protein (SP). Interestingly, multimeric aptasensors produced considerably higher response signals and affinity (more than 10‐fold), as well as higher sensitivity (almost 4‐fold) compared to monomeric aptasensors. Furthermore, the impact of surface structures on the response signals was studied by utilizing both flat working electrodes (WEs) and nano‐/microislands (NMIs) WEs. The NMIs multimeric aptasensors showed significantly higher sensitivity in buffer and saliva media with the limit of detection less than 2 fg/ml. Finally, the developed NMIs multimeric aptasensors were clinically challenged with several saliva patient samples.
Dialumene‐Mediated Production of Phosphines through P4 Reduction
Authors: Xu Huihui , Roy Matthew M. D. , Kostenko Arseni , Kelly John A. , Fujimori Shiori , Inoue Shigeyoshi 
Published: May 2024

AbstractThe formation of phosphorus‐rich alanes featuring butterfly‐like geometries is achieved. The two‐electron reduction products feature a unique P42− structure and can act as a source of P3−. The treatment of these phosphorus containing products with electrophiles under mild conditions results in the formation of different phosphines. This approach eliminates the need for high temperatures and/or high pressures, which are commonly required in industrial processes for the preparation of useful phosphines.The activation and further functionalization of white phosphorus (P4) by main group complexes has become an increasingly studied topic in recent times. Herein, we report the controlled formation of phosphorus‐rich alanes featuring butterfly‐like geometries from the selective reaction of P4 with dialumenes, ([L(IiPr)Al]2) (1: L=Tripp=2,4,6‐iPr3C6H2; 2: L=tBu2MeSi; IiPr=[MeCN(iPr)]2C)). The two‐electron‐reduction product of P4 features a P42− structure and is shown to be able to act as a source of P3−. Treatments of different electrophiles (e.g., chlorotrimethylsilane (Me3SiCl), iodotrimethylsilane (Me3SiI), HCl, or acetyl chloride (CH3COCl)) with these alanes under mild conditions gave the corresponding phosphines (e.g., P(SiMe3)3, PH3, or P(COCH3)3).
Triply Interlocked [2]catenanes: Rational Synthesis, Reversible Conversion Studies and Unprecedented Application in Photothermal Responsive Elastomer
Authors: Dang Li‐Long , Zheng Jie , Zhang Ju‐Zhong , Chen Tian , Chai Yin‐Hang , Fu Hong‐Ru , Aznarez Francisco , Liu Shui‐Ren , Li Dong‐Sheng , Ma Lu‐Fang 
Published: May 2024

AbstractTriply interlocked [2]catenane complexes featuring two identical, mechanically interlocked units are extraordinarily rare chemical compounds, whose properties and applications remain open to detailed studies. Herein, we introduce the rational design of a new ligand precursor, L1, suitable for the synthesis of six triply interlocked [2]catenanes by coordination‐driven self‐assembly. The interlocked compounds can be reversibly converted into the corresponding simple triangular prism metallacage by addition of H2O or DMF solvents to their CH3OH solutions, thereby demonstrating the importance of π⋅⋅⋅π stacking and hydrogen bonding interactions in the formation of triply interlocked [2]catenanes. Moreover, extensive studies have been conducted to assess the remarkable photothermal conversion performance. Complex 6 a, exhibiting outstanding photothermal conversion performance (conversion efficiency in solution : 31.82 %), is used to prepare novel photoresponsive elastomer in combination with thermally activated liquid crystal elastomer. The resultant material displays robust response to near‐infrared (NIR) laser and the capability of completely reforming the shape and reversible actuation, paving the way for the application of half‐sandwich organometallic units in photo‐responsive smart materials.
Stereoinvertive SN1 Through Neighboring Group Participation
Authors: Suresh Rahul , Orbach Noam , Marek Ilan 
Published: May 2024

AbstractNeighboring group participation, the assistance of non‐conjugated electrons to a reaction center, is a fundamental phenomenon in chemistry. In the framework of nucleophilic substitution reactions, neighboring group participation is known to cause rate acceleration, first order kinetics (SN1), and retention of configuration. The latter phenomenon is a result of double inversion: the first one when the neighboring group displaces the leaving group, and the second when a nucleophile substitutes the neighboring group. This powerful control of stereoretention has been widely used in organic synthesis for more than a century. However, neighboring group participation may also lead to inversion of configuration, a phenomenon which is often overlooked. Herein, we review this unique mode of stereoinversion, dividing the relevant reactions into three classes with the aim to introduce a fresh perspective on the different modes of stereoinversion via neighboring group participation as well as the factors that control this stereochemical outcome.
The language of nature in Murray Bowen's writings: how connection to nature informs Bowen theory and is essential to human survival
Authors: Collier Carrie E. , Mader Ashley 
Published: May 2024

AbstractThe human is a product of nature, and the same emotional process at work in families is at work in the relationship of the human to nature. Current global concerns and environmental changes highlight the need for humans to revisit their relationships with the natural world. The purpose of this study was to survey Murray Bowen's professional letters to reify the constructs of Bowen theory. Qualitative methodology with a narrative research design was employed. A sample (N = 250) of Dr Bowen's professional letters from the archives dating from 1965 to 1990 was analysed. Results from this analysis reveal that Bowen's writings are grounded in the language of nature and that Bowen's thinking about the human species and the family offers ways in which to see the family and humans as part of a larger system. Relating more maturely to the natural world is essential for human survival.
Diaminodiphenylmethane modified zirconium phosphate: A new strategy for trace addition to improve flame retardancy, smoke inhibition, and compatibility of epoxy resins
Authors: Wang Feiyue , Li Weixuan , Long Miaotian , Liu Hui , Yan Long 
Published: May 2024

AbstractHigh‐efficient flame retardants (ZrP‐DDM) were synthesized successfully via ion‐exchange method, using diaminodiphenylmethane (DDM) modified layered zirconium phosphate (α‐ZrP). Trace addition of ZrP‐DDM in epoxy resins (EP) can enhance the flame‐retardant, smoke‐inhibition, mechanical, and thermal stability properties of EP composites. As shown in the results, ZrP‐DDM exhibits a better synergistic effect than α‐ZrP, and the EP composites containing 0.5 wt% ZrP‐DDM (EP/0.5ZrP‐DDM) show excellent flame‐retardant and smoke‐inhibition properties. Especially, EP/0.5ZrP‐DDM possesses a limiting oxygen index (LOI) of 33.7% with UL94 V‐1 rating, while the EP composites containing 0.5 wt% ZrP (EP/0.5ZrP) has a LOI of 30.1% and fails to achieve the UL94 rating. Furthermore, the peak heat release rate (PHRR), total heat release rate (THR), and smoke density rating of EP/0.5ZrP‐DDM decrease by 10.2%, 3.7%, and 8.2% compared with EP/0.5ZrP. Based on condensed‐phase product analysis, EP/ZrP‐DDM sample provides a gas source for intumescent char layer, and produces a stable phosphorus‐rich crosslinking structures during combustion, thus decreasing the fire hazard of the composite material. Meanwhile, the introduction of ZrP‐DDM has a less impact on tensile strength of EP composites compared with α‐ZrP, suggesting the addition of ZrP‐DDM effectively enhances the compatibility with the EP matrix, thereby maintaining excellent mechanical properties of the EP matrix.
Preparation and performance evaluation of intelligent plugging agent for thermo‐sensitive water‐based drilling fluid
Authors: Luo Yumei , Wu Lianci , Yan Yancheng , Shang Qingguo , Huang Min , Pu Kefu , Bai Xiaodong 
Published: May 2024

AbstractIn the process of unconventional oil and gas exploitation, the invasion of a large amount of drilling fluid into the formation is one of the most critical reasons leading to wellbore instability. A temperature‐sensitive polymer (AOS) was synthesized from acrylamide, oligo (ethylene glycol) methyl ether methacrylate (OEGMA), and sodium p‐styrene sulfonate by emulsion polymerization. The material is a solid‐free fluid with good fluidity at room temperature, after injection into the formation, the fluid is gradually transformed into hard gel above the lower critical solution temperature (LCST) (90°C), thus blocking micro‐fractures and improving wellbore stability. Infrared and NMR characterization confirmed the successful preparation of the target product. The transmittance of AOS with ambient temperature was measured by UV–vis spectrophotometer, and the LCST behavior of AOS was verified by rheological and viscoelastic measurements. The interaction mechanism between AOS and sodium bentonite was evaluated according to the American Petroleum Institute standard. The results show that after aging at 180°C, the filtration loss is reduced by 93%, and the medium permeability (100, 200 mD) formation is effectively plugged, with a plugging efficiency is as high as 74.7%.
A novel and biocompatible photopolymerizable resin based on cyclohexanedimethanol‐dimetacrylate designed to light‐print microneedles
Authors: dos Santos Edielen F. , Maciel Larissa G. , Araujo‐Neto João H. , Nascimento Dayane K. D. , Barros‐Junior Wilson , dos Anjos Janaína V. , Alves‐Junior Severino 
Published: May 2024

AbstractMicroneedles offer a promising avenue for painless drug delivery through micro‐perforation, and additive manufacturing, particularly stereolithography, has proven effective for their fabrication. This study focuses on developing a novel biocompatible resin for 3D printing microneedles. Spectroscopic methods are employed to confirm the structures of all intended resin monomers, with a specific analysis of the crystallographic structure of cyclohexanedimethanol methacrylate (CDMM) using x‐ray diffraction. The results indicate that CDMM crystallizes in the monoclinic system, aligning with the P21/c space group. The fabricated conical microneedles, standing at approximately 655 μm in height, underwent thorough mechanical and thermal characterization. Depth analyses of micro‐perforations in Parafilm M and pig skin were performed using optical coherence tomography and histological sections, demonstrating successful penetration through the stratum corneum and epidermal layers into the superficial dermal layer (1.5–4 mm thickness) without affecting nerve endings. Cytocompatibility tests affirm the biocompatibility of the microneedles. This work highlights the potential of the newly developed biocompatible material for printable drug delivery systems, emphasizing microneedles and other implant forms.
ALKBH5 modulates bone cancer pain in a rat model by suppressing NR2B expression
Authors: Song Kun , Cao Qionghua , Yang Yanping , Zuo Yuefen , Wu Xianping 
Published: May 2024

AbstractCurrently, the clinical treatment of bone cancer pain (BCP) is mainly related to its pathogenesis. The aim of the present study was to elucidate the potential role of N6‐methyladenosine (m6A) in BCP in the spinal cord dorsal root ganglia (DRG) of BCP rats and its specific regulatory mechanism in N‐methyl‐d‐aspartate receptor subunit 2B (NR2B). A rat model of BCP was constructed by tibial injection of Walker256 cells, and ALKBH5 and NR2B expression in the spinal cord DRG was detected. ALKBH5 was silenced or overexpressed in PC12 cells to verify the regulatory effect of ALKBH5 on NR2B. The specific mechanism underlying the interaction between ALKBH5 and NR2B was investigated using methylated RNA immunoprecipitation and dual‐luciferase reporter gene assays. The results showed increased expression of m6A, decreased expression of ALKBH5, and increased expression of NR2B in the DRG of the BCP rat model. Overexpression of ALKBH5 inhibited NR2B expression, whereas interference with ALKBH5 caused an increase in NR2B expression. In NR2B, interference with ALKBH5 caused an increase in m6A modification, which caused an increase in NR2B. Taken together, ALKBH5 affected the expression of NR2B by influencing the stability of the m6A modification site of central NR2B, revealing that ALKBH5 is a therapeutic target for BCP.
Tourism's circular economy: Opportunities and challenges from an integrated theoretical perspective
Authors: Jain Nikunj Kumar , Panda Abinash , Arghode Vishal 
Published: May 2024

AbstractThis study explored circular economy (CE) performance in small‐ and medium‐sized enterprises (SMEs) in the tourism sector. The study's theoretical framework comprised value–belief–norm theory, institutional theory, upper echelon theory (UET), and the dynamic capabilities (DCs) approach. Empirical data from 286 Indian SMEs were analyzed using partial least squares structural equation modeling. The results indicated that personal norms, coercive pressures (CP), mimetic pressures (MP), and top management commitment toward the environment influenced CE performance through DCs. However, normative pressures (NP) did not significantly influence CE performance. DCs were a catalyst enabling individual beliefs, organizational factors, and external pressures to push SMEs toward a CE. Nevertheless, possibly due to insufficient resources, SMEs were reluctant in improving their CE performance. Policymakers and SME owners should therefore develop DCs in their organizations to achieve CE performance through appropriate resource assessment and design.
Resource recombination perspective on open eco‐innovation: Open innovation type, strategic orientation, and green innovation
Authors: Kim Younghuk , Roh Taewoo , Boroumand Raphaël Homayoun 
Published: May 2024

AbstractThis study aims to investigate the missing links in open eco‐innovation by focusing on the following questions, which existing studies have limited attention in the existing literature: (1) Given the level of breadth and depth of a firm's open eco‐innovation, how can open innovation types be distinguished? (2) In what way does the open innovation type differ in implementing an open eco‐innovation strategy? and (3) How do open innovation strategic differences affect green innovation performance? Drawing upon the knowledge‐based view and dynamic capability perspective, this study provides theoretical grounds for a firm's breadth and depth of an open eco‐innovation strategy. It suggests a 2
2 resource recombination framework to differentiate between four open innovation types for green innovation: Maverick, Best friend, True, and Cherry‐picker. Using data from 2496 manufacturing firms in South Korea, we applied a k‐means cluster analysis to generate four groups and conducted regression analyses to confirm hypotheses. Our findings supported the influence of open innovation type on strategic orientation; however, the effect was not observed in Best Friend. Additionally, ambidextrous strategic orientation significantly influenced green innovation compared to either exploitative or explorative strategic orientations.
Integrative analyses identified gap junction beta‐2 as a prognostic biomarker and therapeutic target for breast cancer
Authors: Zhang Di , Li Lixi , Ma Fei 
Published: May 2024

AbstractBackgroundIncreasing evidence has shown that connexins are involved in the regulation of tumor development, immune escape, and drug resistance. This study investigated the gene expression patterns, prognostic values, and potential mechanisms of connexins in breast cancer.MethodsWe conducted a comprehensive analysis of connexins using public gene and protein expression databases and clinical samples from our institution. Connexin mRNA expressions in breast cancer and matched normal tissues were compared, and multiomics studies were performed.ResultsGap junction beta‐2 mRNA was overexpressed in breast cancers of different pathological types and molecular subtypes, and its high expression was associated with poor prognosis. The tumor membrane of the gap junction beta‐2 mutated group was positive, and the corresponding protein was expressed. Somatic mutation and copy number variation of gap junction beta‐2 are rare in breast cancer. The gap junction beta‐2 transcription level in the p110α subunit of the phosphoinositide 3‐kinase mutant subgroup was higher than that in the wild‐type subgroup. Gap junction beta‐2 was associated with the phosphoinositide 3‐kinase‐Akt signaling pathway, extracellular matrix–receptor interaction, focal adhesion, and proteoglycans in cancer. Furthermore, gap junction beta‐2 overexpression may be associated with phosphoinositide 3‐kinase and histone deacetylase inhibitor resistance, and its expression level correlated with infiltrating CD8+ T cells, macrophages, neutrophils, and dendritic cells.ConclusionsGap junction beta‐2 may be a promising therapeutic target for targeted therapy and immunotherapy and may be used to predict breast cancer prognosis.
Grape Pomace Polyphenols Reduce Acute Inflammatory Response Induced by Carrageenan in a Murine Model
Authors: Nery‐Flores Sendar Daniel , Castro‐López Cristina Marisela , Martínez‐Hernández Lucía , García‐Chávez Clara Victoria , Palomo‐Ligas Lissethe , Ascacio‐Valdés Juan Alberto , Flores‐Gallegos Adriana Carolina , Campos‐Múzquiz Lizeth Guadalupe , Rodríguez‐Herrera Raúl 
Published: May 2024

AbstractGrape pomace (GP), a by‐product of wine production, contains bioactive polyphenols with potential health benefits. This study investigates the anti‐inflammatory properties of a polyphenolic fraction derived from GP, obtained by ultrasound‐microwave hybrid extraction and purified using ion‐exchange chromatography. In the inflammation model, mice were divided into six groups: intact, carrageenan, indomethacin, and three GP polyphenols treatment groups. Paw edema was induced by subplantar injection of carrageenan, and the GP polyphenols were administered intraperitoneally at doses of 10, 20, and 40 mg/kg. The anti‐inflammatory effect was evaluated by measuring paw volume, and expression of inflammatory markers: cyclooxygenase‐2 (COX‐2), myeloperoxidase (MPO), and cytokines (IL‐1β and IL‐6), along with lipid peroxidation levels. The GP polyphenols significantly reduced paw edema and expression levels of COX‐2, MPO, and cytokines in a dose‐dependent manner effect, with the highest dose showing the greatest reduction. Additionally, lipid peroxidation levels were also decreased by GP polyphenols treatment at doses of 10 and 20 mg/kg. These findings suggest that ultrasound‐microwave extraction combined with amberlite purification proved to be effective in obtaining a polyphenolic‐rich fraction from GP. Thus, GP polyphenols may serve as a natural anti‐inflammatory and antioxidant agent for treating inflammation and oxidative stress‐related diseases.