Search Results (64)

Background: Functional single ventricle (FSV) comprises a heterogeneous group of congenital heart diseases (CHDs) with severe and complex abnormalities. The multifactorial etiology of the disease poses challenges in identifying specific pathogenic factors and planning effective interventions and preventive treatments for patients. Methods: Whole-exome sequencing (WES) was performed to identify variants in relevant genes in 29 FSV patients from different families. Results: In total, 95 heterozygous variants across 48 CHD-associated genes were identified, including 85 missense, four small indel, one splicing, one stop gain, and four synonymous variants. Among them, 22 were novels, 11 conflicting, and four pathogenic variants. Each patient carried from two to six variants in different genes, including at least one variant in genes associated with serious heart defects such as AXIN1, BMP2, COL6A2, GATA4, GATA5, GDF1, MESP1, MYH6, NFATC1, NKX2-6, NOTCH1, PCSK9, TBX1, TBX18, and TBX20. In addition, the variants in the COL6A1, CREBBP, DOCK6, EOGT, EP300, LRP2, MYBPC3, MYH7, SEMA3C, and ZFPM2 genes are associated with characteristic phenotypes of FSV, such as atrial septal defect, ventricular septal defect, small left heart syndrome, transposition of the great arteries, and double outlet right ventricle occurring at high frequency in patients. The prediction results suggest that these are potentially pathogenic variants in patients and may explain the phenotype in patients. Conclusions: This is the first study to identify variants associated with functional single ventricle, a complex form of congenital heart disease. Our results contribute to a general understanding of the causes of the disease, thereby guiding treatment and prevention approaches for patients. Full article

Background/Objectives: Composite resins are widely used in restorative dentistry due to their aesthetic properties and ease of handling. Preheating prior to light polymerization has been proposed to improve flowability, degree of conversion, and mechanical properties. This in vitro study aimed to evaluate the effect of preheating on the microhardness of three nanoparticulate composite resins—IPS Empress Direct (Ivoclar), Filtek Z350 XT (3M-ESPE), and Forma (Ultradent)—when cured with a high-power LED light. Methods: Sixty disc-shaped samples (n = 20 per material) were fabricated and divided into preheated and non-preheated groups. After polishing and 24 h storage in distilled water at 37 °C, samples were subjected to Knoop microhardness testing under a 300 g load for 15 s. Statistical analysis was conducted using R software. Results: Preheating produced a significant increase in surface microhardness for IPS Empress Direct (32.8%) and Filtek Z350 XT (5.8%) (p < 0.05 for both), whereas Forma showed no significant change. Conclusions: Under the conditions of this in vitro study, preheating can enhance the mechanical performance of specific composite resins by increasing microhardness; however, the effect is material-dependent. Full article

A comprehensive techno-economic assessment was undertaken to determine the viability of bioethanol production from sugarcane bagasse in Thailand through organosolv fractionation, incorporating three distinct catalytic systems: sulfuric acid, formic acid, and sodium methoxide. Rigorous process simulations were executed using Aspen Plus, facilitating the derivation of detailed mass and energy balances, which served as the foundational input for downstream cost modeling. Economic performance metrics, including the total annualized cost and minimum ethanol selling price, were systematically quantified for each scenario. Among the evaluated configurations, the formic acid-catalyzed organosolv system exhibited superior techno-economic attributes, achieving the lowest unit production costs of 1.14 USD/L for ethanol and 1.84 USD/kg for lignin, corresponding to an estimated ethanol selling price of approximately 1.14 USD/L. This favorable outcome was attained with only moderate capital intensity, indicating a well-balanced trade-off between operational efficiency and investment burden. Conversely, the sodium methoxide-based process configuration imposed the highest economic burden, with a TAC of 15.27 million USD/year, culminating in a markedly elevated MESP of 5.49 USD/kg (approximately 4.33 USD/L). The sulfuric acid-driven system demonstrated effective delignification performance. Sensitivity analysis revealed that reagent procurement costs exert the greatest impact on TAC variation, highlighting chemical expenditure as the key economic driver. These findings emphasize the critical role of solvent choice, catalytic performance, and process integration in improving the cost-efficiency of lignocellulosic ethanol production. Among the examined options, the formic acid-based organosolv process stands out as the most economically viable for large-scale implementation within Thailand’s bioeconomy. Full article

In this work, we described the synthesis of 4-(methoxycarbonyl)phenyl 5-bromofuran-2-carboxylate by reacting 5-bromofuroic acid with methylparaben in the incorporation of DCC/DMAP (Steglich esterification) as coupling agents. Later on, we subsequently synthesized a series of 4-(methoxycarbonyl)phenyl 5-aryl furan-2-carboxylates (5a–5e) through Suzuki coupling catalyzed by palladium (0) between 4-(methoxycarbonyl)phenyl 5-bromofuran-2-carboxylate (3) with several substituted arylated and heteroaryl boronic acids (4). DFT calculations were computed to elucidate electronic structural features of synthesized molecules (5a–5e) and to validate these findings by correlating with theoretical and experimental spectroscopic analysis. Furthermore, geometrical optimization, thermodynamic features, as FMO orbitals, MESP maps, NLO behavior and reactivity descriptors, were also determined from the PBE0 D3BJ/def2-TZVP/SMD_1,4-dioxane theory level to confirm the structural features of synthesized molecules. Full article

The success of adhesive restorations largely depends on the optimal bond strength between the tooth structure and the restorative material. The aim of this study was to evaluate the shear bond strength (SBS) of four different adhesives applied to mandibular molars on deep and superficial dentin. The total of 56 teeth used in the study were randomly divided into 2 subgroups of superficial dentin and deep dentin participants (n = 28). Superficial and deep dentin groups were randomly divided into 4 subgroups (n = 7) for application with different adhesive agents. We formed the following groups: Group 1 (G1)—deep dentin and GC bonding agent (G-Premio BOND); Group 2 (G2)—superficial dentin and GC bonding agent; Group 3 (G3)—deep dentin and Clearfil S3 bond bonding agent (Clearfil TM S3 BOND); Group 4 (G4)—superficial dentin and Clearfil S3 bond bonding agent; Group 5 (G5)—deep dentin and KerrOptibond bonding agent (KerrOptibond^TM Universal); Group 6 (G6)—superficial dentin and Kerr Optibond bonding agent; Group 7 (G7)—deep dentin and 3M-ESPE universal bonding agent (3M ESPE); Group 8 (G8)—superficial dentin and 3M-ESPE universal bonding agent. The silicone block with a diameter of 3 mm and a thickness of 1 mm was placed in the middle of the occlusal surface and the test composite was loaded. All prepared specimens were aged in thermal cycles at 5–55 °C for 5000 cycles. The teeth were subjected to SBS (shear bond strength) tests at a crosshead speed of 1 mm/min in a universal testing machine. In all adhesive systems, deep dentin showed a higher bond strength than superficial dentin and the bond strength value was statistically significant (p = 0.05). The bond strength in all tested adhesive systems was observed to be significantly higher in deep dentin than in superficial dentin. Full article

Background/Objectives: Endplate lesions of the lumbar spine are often asymptomatic and frequently observed incidentally by radiological assessment. Variants in the vitamin D receptor gene (VDR) and an increase in some biochemical markers related to the osteo-cartilaginous metabolism were found in patients with endplate lesions. The aim of this study was to identify biochemical and genetic markers putatively associated with the presence of endplate lesions of the lumbar spine. Methods: Quantification of circulating bone remodeling proteins was obtained from 10 patients with endplate lesions and compared with age- and sex-matched controls. Whole exome sequencing (WES) was performed on patient genomic DNA using the Novaseq 6000 platform (Illumina, San Diego, CA, USA), obtaining a median read depth of 117×–200×, with ≥98% of regions covering at least 20×. The sequencing product was aligned to the reference genome (GRCh38.p13-hg38) and analyzed with Geneyx software. Results: We observed modifications in the levels of circulating proteins involved in bone remodeling and angiogenesis. We identified variants of interest in aggrecan (ACAN), bone morphogenetic protein 4 (BMP4), cytochrome P450 family 3 subfamily A member 4 (CYP3A4), GLI family zinc finger 2 (GLI2), heparan sulfate proteoglycan 2 (HSPG2), and mesoderm posterior bHLH transcription factor 2 (MESP2). VDR polymorphism (rs2228570) was present in nine patients, with the homozygotic ones having more severe endplate lesions and higher levels of the analyzed circulating markers in comparison with heterozygotic patients. Conclusions: These data represent interesting evidence of genetic variants, particularly in VDR, and altered levels of circulating markers of bone remodeling associated with endplate lesions, which should be confirmed in a larger population. The hypothesis suggested by our results is that the endplate lesions could be the consequence of an altered ossification mechanism at the vertebral level. Full article

The adsorption of the drug gemcitabine on nucleobases was investigated using a dispersion-corrected density functional theory (DFT) study. The planar structure of complexes is more stable than those with stacked and buckle-angled configurations. The complexes were found to possess at least two intermolecular hydrogen bonds. The binding energy and interaction energy are both negative, with the highest values observed for the gemcitabine–guanine and the lowest in the gemcitabine–thymine complex. The complex formation was found to be an enthalpy-driven process. Pyrimidine nucleobases have a lower enthalpy of formation than purine nucleobases. The computed HOMA and NICS values on the gemcitabine–nucleobase complexes show a substantial increase compared to the pristine nucleobases. An MESP analysis of the complexes shows a directional interaction and electron density shift between the gemcitabine and the nucleobases. A QTAIM analysis indicates that the intermolecular hydrogen bonds have a partial covalent character. The computed bond energy demonstrates that intermolecular NH⋅⋅⋅N bonds are more potent than other bonds. An energy decomposition analysis using the DLPNO−CCSD(T) method indicates that the complexes exhibit a substantial electrostatic attraction, and dispersion contributes the least towards the system stability. The intermolecular bonds are stronger than the intramolecular bonds in the drug–nucleobase complexes. The strength of intramolecular bonds is determined by the deformation of the gemcitabine ring during the complex formation. Full article

Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including DLL3 (SCDO1, OMIM 602768), MESP2 (SCDO2, OMIM 608681), LFNG (SCDO3, OMIM 609813), HES7 (SCDO4, OMIM 608059), TBX6 (SCDO5, OMIM 602427), RIPPLY2 (SCDO6, OMIM 616566), and DLL1 (SCDO7). Among these, SCDO4, characterized by a short trunk, short neck, and mild nonprogressive scoliosis, is a rare form of reported cases. SCDO4 is identified as caused by homozygous or compound heterozygous variants in the HES7 gene (NM_001165967.2; NP_001159439.1). This study reports a novel homozygous HES7 splice variant (c.43-9T>A) detected in an SCDO4 patient by whole-exome sequencing and confirmed by Sanger sequencing. This variant was evaluated as an acceptor loss variant in intron 1 in the HES7 transcript by in silico analysis and was inherited from the patient’s parent. This study also reviews previous reports to provide a comprehensive overview of SCDO and help us to understand the pathogenesis to develop future treatment strategies. Full article

This study assessed the repair shear bond strength (SBS; MPa) and surface roughness (Ra; μm) of aged hybrid ceramic (Cerasmart270, GC) and nano-hybrid ceramic (Grandio Blocs, Voco) CAD/CAM blocks after different surface pretreatment methods. In this study, 2 mm thick Cerasmart270 and Grandio Blocs were cut into slabs (Isomet; n = 80 per group). Following aging for six months, the specimens in each CAD/CAM material were randomly divided into four groups (n: 20 each) according to the surface pretreatments: control (no pretreatment), Er:YAG laser, sandblasting, and bur grinding. A total of 10 specimens in each CAD/CAM material pretreatment group were used for Ra evaluation (Perthometer Mahr), while the other 10 were for SBS. After the application of a silane primer (G-Multi Primer, GC) and universal adhesive (G2-Bond, GC), composite build-ups (Filtek Z250; 3MESPE) were performed for the SBS evaluation. After storage in distilled water for 24 h, SBS was evaluated with a universal testing machine (Instron). SBS and Ra data were analyzed with two-way ANOVA and Tukey’s post hoc tests (p < 0.05). SBS was significantly affected by the surface pretreatment methods (p = 0.0001) and by the types of CAD/CAM material (p = 0.005). Bur grinding showed the highest SBS for both CAD/CAM materials, while the control groups yielded significantly lower SBS than bur grinding and sandblasting (p < 0.05). Er:YAG lasers did not significantly enhance the SBS compared to the control group. Sandblasting presented significantly higher SBS than lasers only in Grandio Blocs (p < 0.05). The surface pretreatment methods significantly influenced Ra (p = 0.0001); however, no significant interaction was found between the types of CAD/CAM material and the surface pretreatments (p > 0.05). Control groups exhibited, significantly, the lowest Ra for both materials (p = 0.0001), while no significant differences were observed between the other pretreatment methods. Bur grinding was identified as the most effective pretreatment method for repairing hybrid ceramic CAD/CAM materials. Full article

Background/Objectives: This double-blinded study aimed to evaluate the clinical performance of a giomer restorative material in comparison to a nanotechnology-based restorative system for the restoration of non-carious cervical lesions over a period of 48 months. Methods: A 48-month randomized, controlled, split-mouth trial was conducted with 49 subjects at its baseline, which was reduced to 34 subjects at follow-up, yielding a statistical power of 69.55%. Cervical lesions were restored using either BEAUTIFIL II LS (BL) or 3M/ESPE Filtek Supreme Universal Restorative (FS). Clinical assessments were performed by blinded examiners, excluding the one who placed the restorations. Evaluations were based on the Hickel criteria, covering esthetic, functional, and biological properties, with comparisons made using the Wilcoxon signed-rank test. Results: Hickel scores were analyzed with the Mann–Whitney U test to compare BL and FS groups within subjects. Changes in median Hickel scores, sensitivity, and the gingival index were assessed via Friedman’s test, followed by Wilcoxon signed-rank tests with a Bonferroni correction for post-hoc comparisons. The p-values under 0.05 were considered significant, except with the Bonferroni correction. Statistical analysis showed no significant differences between materials across most Hickel parameters (p > 0.05), though BL exhibited a trend of better surface staining (76.5% excellent with BL vs. 76.5% excellent with FS) and adjacent mucosa, while FS showed slight advantages in surface luster and color match. Conclusions: The clinical evaluation of restorations for non-carious cervical lesions using giomer and nanotechnology-based restorative systems revealed no statistically significant differences according to the Hickel criteria, indicating a similar clinical performance for both restorative materials. Full article

The supramolecular structure of the crystal products–N-[2-chloro-2-(silatranyl)ethyl]-4-nitro-benzenesulfonamide 4d and N-chloro-N-[2-chloro-1-(silatran-1-yl-methyl)ethyl]benzene-sulfonamide 5a was established by X-ray diffraction analysis data, FTIR spectroscopy and DFT quantum chemical calculations. Their crystal lattice is formed by cyclic dimers with intermolecular hydrogen NH∙∙∙O-Si bonds and CH∙∙∙O=S short contacts. The distribution of electron density in the monomers was determined using quantum chemical calculations of their molecular electrostatic potential (MESP) in an isolated state (in gas) and in a polar medium. The transition from covalent N–Si bonds in crystal compounds and polar medium to non-covalent N∙∙∙Si bonds happened while performing the calculations on the monomer molecules and their dimers in gas. The effect of intermolecular interactions on the strength of the N–Si and N∙∙∙Si bonds in molecules was evaluated through calculations of their complexes with H₂O and DMSO. Full article

The development of sustainable biofuels can help to reduce the reliance on fossil fuels and mitigate the impact of climate change. This study analyzes bioethanol production from agro-forestry residual biomass, namely eucalyptus residues and corn stover. The study includes process simulation using Aspen Plus software, followed by economic analysis and life cycle assessment (LCA) with the help of SimaPro software and by applying the environmental footprint (EF) 3.0 method. The economic analysis on the biorefinery’s economic viability, equipment, and production costs reveals a positive decision for bioethanol production from eucalyptus residues due to logistical and transportation costs. The minimum ethanol selling price (MESP) obtained was 2.19 €/L and 2.45 €/L for eucalyptus residues and corn stover, respectively. From the LCA with a functional unit of 1 MJ of ethanol, bioethanol production from eucalyptus residues results in a single score impact of 37.86 µPt, whereas for corn stover, it is 33.47 µPt. In the climate change impact category, the eucalyptus residues scenario has an impact of 0.264 kg CO₂ eq/MJ ethanol while corn stover leads to 0.254 kg CO₂ eq/MJ ethanol. In-situ enzyme production, heat integration, and the use of renewable energy sources were also analyzed. Combining in situ enzyme production with renewable energy sources lowers CO₂ equivalent emissions by 89% for both feedstocks, in comparison to the base-case scenario. Full article

This study reveals a new non-covalent interaction called a π-hole halogen bond, which is directional and potentially non-linear compared to its sister analog (σ-hole halogen bond). A π-hole is shown here to be observed on the surface of halogen in halogenated molecules, which can be tempered to display the aptness to form a π-hole halogen bond with a series of electron density-rich sites (Lewis bases) hosted individually by 32 other partner molecules. The [MP2/aug-cc-pVTZ] level characteristics of the π-hole halogen bonds in 33 binary complexes obtained from the charge density approaches (quantum theory of intramolecular atoms, molecular electrostatic surface potential, independent gradient model (IGM-δg^inter)), intermolecular geometries and energies, and second-order hyperconjugative charge transfer analyses are discussed, which are similar to other non-covalent interactions. That a π-hole can be observed on halogen in halogenated molecules is substantiated by experimentally reported crystals documented in the Cambridge Crystal Structure Database. The importance of the π-hole halogen bond in the design and growth of chemical systems in synthetic chemistry, crystallography, and crystal engineering is yet to be fully explicated. Full article

This groundbreaking research delves into the intricate molecular interactions between MXene and trihalomethanes (THs) through a comprehensive theoretical study employing density-functional theory (DFT). Trihalomethanes are common carcinogenic chlorination byproducts found in water sanitation systems. This study focuses on a pristine MXene [M_n+1·X_n] monolayer and its various terminal [T_x] functional groups [M_n+1·X_nT_x], strategically placed on the surface for enhanced performance. Our investigation involves a detailed analysis of the adsorption energies of THs on different MXene types, with the MXene-Cl layer emerging as the most compatible variant. This specific MXene-Cl layer exhibits remarkable properties, including a total dipole moment (TDM) of 12.443 Debye and a bandgap of 0.570 eV, achieved through meticulous geometry optimization and computational techniques. Notably, THs such as trichloromethane (CHCl₃), bromide-chloromethane (CHBrCl₂), and dibromochloromethane (CHBr₂Cl) demonstrate the highest TDM values, indicating substantial changes in electronic and optical parameters, with TDM values of 16.363, 15.998, and 16.017 Debye, respectively. These findings highlight the potential of the MXene-Cl layer as an effective adsorbent and detector for CHF₃, CHClF₂, CHCl₃, CHBrCl₂, and CHBr₂Cl. Additionally, we observe a proportional increase in the TDM and bandgap energy, indicative of conductivity, for various termination atom combinations, such as Mxene-O-OH, Mxene-O-F, Mxene-O-Cl, Mxene-OH-F, Mxene-F-Cl, and Mxene-OH-Cl, with bandgap energies measured at 0.734, 0.940, 1.120, 0.835, and 0.927 eV, respectively. Utilizing DFT, we elucidate the adsorption energies of THs on different MXene surfaces. Our results conclusively demonstrate the significant influence of the termination atom nature and quantity on MXene’s primitive TDM value. This research contributes to our understanding of MXene–THs interactions, offering promising avenues for the development of efficient adsorbents and detectors for THs. Ultimately, these advancements hold the potential to revolutionize water sanitation practices and enhance environmental safety. Full article

This study investigated the crystallographic and electronic properties of 1,5-benzodiazepine compounds, namely: cis-(3S,4S)-3-hydroxy-7,8-dimethyl-4-phenyl-1,3,4,5-tetrahydro-1,5-benzodiazepin-2-one 3b, trans-(3R,4R)-1-ethyl-3-hydroxy-7,8-dimethyl-4-phenyl-1,3,4,5-tetrahydro-2H-1,5-benzodiazepin-2-one 4, and trans-(3S,4S) 1-ethyl-3-ethoxy-7,8-dimethyl-4-phenyl-1,3,4,5-tetrahydro-1,5-benzodiazepin-2-one 5. Hirshfeld surface analysis was also applied to discern the intermolecular interactions, highlighting the significance of hydrogen bonding, van der Waals forces, and the influence of specific substituents. Furthermore, the MESP maps created using the density functional theory revealed the electrostatic nature of these molecules. The absence of dark blue regions on the MESP maps and variations due to different functional groups and substitutions were noteworthy findings. Collectively, this research offers crucial insights into the behaviour, interactions, and potential applications of new compounds. Finally, the anticancer effects of compounds 3b, 4, and 5 were evaluated against three cancer cell lines and one normal cell line, and the results showed that 3b and 4 had potent antiproliferative effects against all three cancer cell lines. Full article