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1.
J Hazard Mater ; 476: 135195, 2024 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-39018592

RESUMO

An electrocoagulation (EC) model is developed for hexavalent chromium reduction and precipitation, using iron electrodes. Parallel removal mechanisms such as adsorption of chromium on ferrihydrite and direct reduction at the cathode is assumed negligible due to low concentration of Cr(VI). The reaction model presented for batch system represents species complexation, precipitation/dissolution, acid/base, and oxidation-reduction reactions. Batch reactor simulation is verified using experimental data obtained by Sarahney et al. (2012), where the effect of initial chromium concentration, pH, volumetric current density, and ionic strength is considered (Sarahney et al., 2012). The model couples multicomponent ionic transport in MATLAB with chemical reaction model in PHREEQC, as a widely used computational programming tool and a geochemical reaction simulator with comprehensive geochemistry databases. The suggested current density is 0.05-0.3mA/cm2 and the surface to volume ratio in batch reactor is considered 0.017 1/cm. Design parameters are presented for operation of a flow-through hexavalent chromium removal using electrocoagulation by iron electrode to treat Cr(VI) in range of 10-50 mg/L. The operational parameters for a flow-through EC reactor for Cr(VI) removal is suggested to follow [Formula: see text] .

2.
J Neural Eng ; 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39029493

RESUMO

OBJECTIVE: While Brain-Computer Interface (BCI) based on Rapid Serial Visual Presentation (RSVP) is widely used in target detection, patterns of Event-Related Potential (ERP), as well as the performance on detecting inconspicuous targets remain unknown. Moreover, participant-screening methods to excluded 'BCI-blind' users are still lacking. APPROACH: A RSVP paradigm was designed with targets of varied concealment, size, and location. ERPs (e.g. P300 and N2pc) and target detection accuracy were compared among these conditions. The relationship between participants' attention scores and target detection accuracy was also analyzed to test attention level as a criterion for participant screening. MAIN RESULTS: Statistical analysis showed conditions of target concealment and size had significant influences on ERP. In particular, ERP for inconspicuous targets, such as concealed and small targets, had lower amplitude and longer latency. In consistent, the accuracy of detection in inconspicuous condition was significantly lower than that of conspicuous condition. In addition, a significant association was found between attention scores and target detection accuracy for camouflaged targets. SIGNIFICANCE: The study was the first to address ERP features among multiple dimensions of concealment, size, and location. The conclusion provided insights into the relationship between ERP decoding and properties of targets. In addition, the association between attention scores and detection accuracy implied a promising method in screening well-behaved participants for camouflaged target detection.

3.
Small ; : e2403490, 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39031997

RESUMO

The miniaturization, integration, and increased power of electronic devices have exacerbated serious heat dissipation issues. Thermally conductive adhesives, which effectively transfer heat and firmly bond components, are critical for addressing these challenges. This paper innovatively proposed a composite comprising inorganic phosphate/alumina as a matrix and diamond as filler. The composite achieved an isotropic thermal conductivity (TC) of up to 18.96 W m-1 K-1, significantly surpassing existing reports while maintaining electrical insulation. First-principles calculations and experimental tests confirmed that the high TC of phosphate and excellent interface contact ensured efficient heat transfer. To optimize bonding performance, a modified-diamond/Al(H2PO4)3@epoxy hybrid composite is subsequently developed using an organic modification method. The unique hybrid structure, combining inorganic thermal pathways and an organic adhesive network, enabled the hybrid composite to simultaneously possess a high TC (3.23 W m-1 K-1) and strong adhesion (14.35 MPa). Compared to previous reports, the comprehensive performance of this hybrid thermally conductive adhesive is exceptionally remarkable. The superior heat dissipation capability of the hybrid thermal adhesive is demonstrated in chip cooling scenarios. This organic/inorganic hybrid approach offered a new direction for obtaining advanced thermal interface materials, demonstrating significant application potential in chip soldering, packaging, and heat dissipation.

4.
Small ; : e2402527, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38888122

RESUMO

Aqueous zinc-iodine batteries are promising candidates for large-scale energy storage due to their high energy density and low cost. However, their development is hindered by several drawbacks, including zinc dendrites, anode corrosion, and the shuttle of polyiodides. Here, the design of 2D-shaped tungsten boride nanosheets with abundant borophene subunits-based active sites is reported to guide the (002) plane-dominated deposition of zinc while suppressing side reactions, which facilitates interfacial nucleation and uniform growth of zinc. Meanwhile, the interfacial d-band orbits of tungsten sites can further enhance the anchoring of polyiodides on the surface, to promote the electrocatalytic redox conversion of iodine. The resulting tungsten boride-based I2 cathodes in zinc-iodine cells exhibit impressive cyclic stability after 5000 cycles at 50 C, which accelerates the practical applications of zinc-iodine batteries.

5.
Water Res ; 260: 121925, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38901316

RESUMO

Layered double hydroxides (LDH) have been shown to be effective adsorbents, but their utility for the treatment of per- and polyfluoroalkyl substances (PFAS) in water has not been fully explored. In this study, the adsorption of 9 PFAS on hydrotalcite (HT), a type of LDH, was investigated using reaction solutions with environmentally relevant PFAS concentrations. The adsorption of individual PFAS by HT depended upon a range of factors, including the temperature used to pre-treat (i.e., calcine) the HT, aging conditions, and the presence of anions in the solution. HT calcined near 400 °C most effectively adsorbed PFAS, but its ability to adsorb PFAS was sensitive to storage conditions. The adsorption of CO2 and moisture from air, which likely resulted in the re-intercalation of CO32- into the interlayer regions of HT, was observed to reduce PFAS adsorption and may explain performance loss over time. The adsorption trend among 9 PFAS and the influence on this process by Cl-, NO3-, SO42-, and CO32- indicated that adsorption occurred via a combination of ion exchange, electrostatic attraction, and hydrophobic interactions, although the relative importance of each mechanism deserves further investigation. During this study, we also demonstrated for the first time that HT can be thermally regenerated at 400 °C without affecting its ability to adsorb PFOS and PFBA. Overall, our results suggest that HT may serve as an effective alternative for PFAS treatment.

6.
J Agric Food Chem ; 72(28): 15487-15497, 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-38917402

RESUMO

Validamycin A (VMA) is an antifungal antibiotic derived from Streptomyces hygroscopicus commonly used in plant disease management. Surprisingly, VMA was discovered to impede the production of fumonisin B1 (FB1) in agricultural settings. However, the specific target of VMA in Fusarium verticillioides remained unclear. To unravel the molecular mechanism of VMA, ultrastructural observations unveiled damage to mitochondrial membranes. Trehalase (FvNth) was pinpointed as the target of VMA by utilizing a 3D-printed surface plasmon resonance sensor. Molecular docking identified Trp285, Arg447, Asp452, and Phe665 as the binding sites between VMA and FvNth. A ΔFvnth mutant lacking amino acids 250-670 was engineered through homologous recombination. Transcriptome analysis indicated that samples treated with VMA and ΔFvnth displayed similar expression patterns, particularly in the suppression of the FUM gene cluster. VMA treatment resulted in reduced trehalase and ATPase activity as well as diminished production of glucose, pyruvic acid, and acetyl-CoA. Conversely, these effects were absent in samples treated with ΔFvnth. This research proposes that VMA hinders acetyl-CoA synthesis by trehalase, thereby suppressing the FB1 biosynthesis. These findings present a novel target for the development of mycotoxin control agents.


Assuntos
Fumonisinas , Proteínas Fúngicas , Fusarium , Trealase , Fusarium/metabolismo , Fusarium/efeitos dos fármacos , Fusarium/genética , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Proteínas Fúngicas/química , Fumonisinas/metabolismo , Trealase/genética , Trealase/metabolismo , Trealase/química , Trealase/antagonistas & inibidores , Simulação de Acoplamento Molecular , Inositol/análogos & derivados , Inositol/farmacologia , Inositol/química , Doenças das Plantas/microbiologia , Antifúngicos/farmacologia , Antifúngicos/química , Streptomyces/metabolismo , Streptomyces/genética , Streptomyces/química
7.
Inflammation ; 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38874810

RESUMO

Previous studies have verified that celastrol (Cel) protects against rheumatoid arthritis (RA) by inhibiting the NLRP3 inflammasome signaling pathway, but the molecular mechanism by which Cel regulates NLRP3 has not been clarified. This study explored the specific mechanisms of Cel in vitro and in vivo. A type II collagen-induced arthritis (CIA) mouse model was used to study the antiarthritic activity of Cel; analysis of paw swelling, determination of the arthritis score, and pathological examinations were performed. The antiproliferative and antimigratory effects of Cel on TNF-α induced fibroblast-like synoviocytes (FLSs) were tested. Proinflammatory factors were evaluated using enzyme-linked immunosorbent assay (ELISA). The expression of NF-κB/NLRP3 pathway components was determined by western blotting and immunofluorescence staining in vitro and in vivo. The putative binding sites between Cel and Hsp90 were predicted through molecular docking, and the binding interactions were determined using the Octet RED96 system and coimmunoprecipitation. Cel decreased arthritis severity and reduced TNF-α-induced FLSs migration and proliferation. Additionally, Cel inhibited NF-κB/NLRP3 signaling pathway activation, reactive oxygen species (ROS) production, and proinflammatory cytokine secretion. Furthermore, Cel interacted directly with Hsp90 and blocked the interaction between Hsp90 and NLRP3 in FLSs. Our findings revealed that Cel regulates NLRP3 inflammasome signaling pathways both in vivo and in vitro. These effects are induced through FLSs inhibition of the proliferation and migration by blocking the interaction between Hsp90 and NLRP3.

8.
Chemosphere ; 362: 142631, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38885768

RESUMO

Due to their widespread production and known environmental contamination, the need for the detection and remediation of per- and polyfluoroalkyl substances (PFAS) has grown quickly. While destructive thermal treatment of PFAS at low temperatures (e.g., 200-500 °C) is of interest due to lower energy and infrastructure requirements, the range of possible degradation products remains underexplored. To better understand the low temperature decomposition of PFAS species, we have coupled gas-phase infrared spectroscopy with a multivariate curve resolution (MCR) analysis and a database of high-resolution PFAS infrared reference spectra to characterize and quantify a complex mixture resulting from potassium perfluorooctanesulfonate (PFOS-K) decomposition. Beginning at 375 °C, nine prevalent decomposition products (namely smaller perfluorocarbon species) are identified and quantified.

9.
Zool Res ; 45(3): 551-566, 2024 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-38757223

RESUMO

Hepatocellular carcinoma (HCC), a prevalent solid carcinoma of significant concern, is an aggressive and often fatal disease with increasing global incidence rates and poor therapeutic outcomes. The etiology and pathological progression of non-alcoholic steatohepatitis (NASH)-related HCC is multifactorial and multistage. However, no single animal model can accurately mimic the full NASH-related HCC pathological progression, posing considerable challenges to transition and mechanistic studies. Herein, a novel conditional inducible wild-type human HRAS overexpressed mouse model (HRAS-HCC) was established, demonstrating 100% morbidity and mortality within approximately one month under normal dietary and lifestyle conditions. Advanced symptoms of HCC such as ascites, thrombus, internal hemorrhage, jaundice, and lung metastasis were successfully replicated in mice. In-depth pathological features of NASH- related HCC were demonstrated by pathological staining, biochemical analyses, and typical marker gene detections. Combined murine anti-PD-1 and sorafenib treatment effectively prolonged mouse survival, further confirming the accuracy and reliability of the model. Based on protein-protein interaction (PPI) network and RNA sequencing analyses, we speculated that overexpression of HRAS may initiate the THBS1-COL4A3 axis to induce NASH with severe fibrosis, with subsequent progression to HCC. Collectively, our study successfully duplicated natural sequential progression in a single murine model over a very short period, providing an accurate and reliable preclinical tool for therapeutic evaluations targeting the NASH to HCC continuum.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Hepatopatia Gordurosa não Alcoólica , Proteínas Proto-Oncogênicas p21(ras) , Animais , Hepatopatia Gordurosa não Alcoólica/patologia , Hepatopatia Gordurosa não Alcoólica/genética , Carcinoma Hepatocelular/patologia , Camundongos , Neoplasias Hepáticas/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas p21(ras)/metabolismo , Modelos Animais de Doenças , Camundongos Transgênicos , Camundongos Endogâmicos C57BL , Humanos
10.
J Agric Food Chem ; 72(28): 15463-15473, 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-38805181

RESUMO

Fusarium verticillioides has a substantial impact on maize production, commonly leading to maize ear rot and the production of fumonisin, a mycotoxin that poses health risks to both humans and animals. Currently, there is a lack of molecular targets for preventing the disease and controlling the toxin. The biological functions of oxysterol-binding proteins (OSBP) in filamentous fungi remain unclear. In this research, 7 oxysterol-binding protein-related proteins were identified in F. verticillioides, and these proteins were obtained through prokaryotic expression and purification. FvOshC was identified as the specific protein that binds to ergosterol through fluorescence titration. Gene knockout complementation techniques confirmed that FvOSHC plays a positive role, establishing it as a novel global regulatory protein involved in the pathogenicity and FB1 biosynthesis in F. verticillioides. Additionally, the interaction between FvOshC and FvSec14 was identified using yeast two-hybrid techniques. Moreover, computer-aided drug design technology was utilized to identify the receptor molecule Xanthatin based on FvOshC. The inhibitory effect of Xanthatin on the growth of F. verticillioides and the synthesis of FB1 was significantly demonstrated. These findings provide valuable insights that can aid in the management of mycotoxin pollution.


Assuntos
Fumonisinas , Proteínas Fúngicas , Fusarium , Doenças das Plantas , Zea mays , Fumonisinas/metabolismo , Fusarium/metabolismo , Fusarium/genética , Zea mays/microbiologia , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Proteínas Fúngicas/química , Doenças das Plantas/microbiologia , Regulação Fúngica da Expressão Gênica
12.
Sensors (Basel) ; 24(10)2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38793922

RESUMO

Electrical tomography sensors have been widely used for pipeline parameter detection and estimation. Before they can be used in formal applications, the sensors must be calibrated using enough labeled data. However, due to the high complexity of actual measuring environments, the calibrated sensors are inaccurate since the labeling data may be uncertain, inconsistent, incomplete, or even invalid. Alternatively, it is always possible to obtain partial data with accurate labels, which can form mandatory constraints to correct errors in other labeling data. In this paper, a semi-supervised fuzzy clustering algorithm is proposed, and the fuzzy membership degree in the algorithm leads to a set of mandatory constraints to correct these inaccurate labels. Experiments in a dredger validate the proposed algorithm in terms of its accuracy and stability. This new fuzzy clustering algorithm can generally decrease the error of labeling data in any sensor calibration process.

13.
Plant J ; 2024 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-38796842

RESUMO

Enhancing the efficiency of photosynthesis represents a promising strategy to improve crop yields, with keeping the steady state of PSII being key to determining the photosynthetic performance. However, the mechanisms whereby the stability of PSII is maintained in oxygenic organisms remain to be explored. Here, we report that the Psb28 protein functions in regulating the homeostasis of PSII under different light conditions in Arabidopsis thaliana. The psb28 mutant is much smaller than the wild-type plants under normal growth light, which is due to its significantly reduced PSII activity. Similar defects were seen under low light and became more pronounced under photoinhibitory light. Notably, the amounts of PSII core complexes and core subunits are specifically decreased in psb28, whereas the abundance of other representative components of photosynthetic complexes remains largely unaltered. Although the PSII activity of psb28 was severely reduced when subjected to high light, its recovery from photoinactivation was not affected. By contrast, the degradation of PSII core protein subunits is dramatically accelerated in the presence of lincomycin. These results indicate that psb28 is defective in the photoprotection of PSII, which is consistent with the observation that the overall NPQ is much lower in psb28 compared to the wild type. Moreover, the Psb28 protein is associated with PSII core complexes and interacts mainly with the CP47 subunit of PSII core. Taken together, these findings reveal an important role for Psb28 in the protection and stabilization of PSII core in response to changes in light environments.

14.
Front Hum Neurosci ; 18: 1385360, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38756843

RESUMO

Introduction: Accurate classification of single-trial electroencephalogram (EEG) is crucial for EEG-based target image recognition in rapid serial visual presentation (RSVP) tasks. P300 is an important component of a single-trial EEG for RSVP tasks. However, single-trial EEG are usually characterized by low signal-to-noise ratio and limited sample sizes. Methods: Given these challenges, it is necessary to optimize existing convolutional neural networks (CNNs) to improve the performance of P300 classification. The proposed CNN model called PSAEEGNet, integrates standard convolutional layers, pyramid squeeze attention (PSA) modules, and deep convolutional layers. This approach arises the extraction of temporal and spatial features of the P300 to a finer granularity level. Results: Compared with several existing single-trial EEG classification methods for RSVP tasks, the proposed model shows significantly improved performance. The mean true positive rate for PSAEEGNet is 0.7949, and the mean area under the receiver operating characteristic curve (AUC) is 0.9341 (p < 0.05). Discussion: These results suggest that the proposed model effectively extracts features from both temporal and spatial dimensions of P300, leading to a more accurate classification of single-trial EEG during RSVP tasks. Therefore, this model has the potential to significantly enhance the performance of target recognition systems based on EEG, contributing to the advancement and practical implementation of target recognition in this field.

15.
Biomater Adv ; 160: 213848, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38581745

RESUMO

Tissue engineering shows promise in repairing extensive bone defects. The promotion of proliferation and osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) by biological scaffolds has a significant impact on bone regeneration outcomes. In this study we used an injectable hydrogel, known as aminated mesoporous silica gel composite hydrogel (MSNs-NH2@GelMA), loaded with a natural drug, processed pyritum (PP), to promote healing of bone defects. The mechanical properties of the composite hydrogel were significantly superior to those of the blank hydrogel. In vitro experiments revealed that the composite hydrogel stimulated the osteogenic differentiation of BMSCs, and significantly increased the expression of type I collagen (Col 1), runt-related transcription factor 2 (Runx 2), alkaline phosphatase (ALP), osteocalcin (OCN). In vivo experiments showed that the composite hydrogel promoted the generation of new bones. These findings provide evidence that the composite hydrogel pyritum-loaded holds promise as a biomaterial for bone repair.


Assuntos
Regeneração Óssea , Diferenciação Celular , Hidrogéis , Células-Tronco Mesenquimais , Osteogênese , Osteogênese/efeitos dos fármacos , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/metabolismo , Hidrogéis/química , Hidrogéis/farmacologia , Diferenciação Celular/efeitos dos fármacos , Animais , Regeneração Óssea/efeitos dos fármacos , Engenharia Tecidual/métodos , Materiais Biocompatíveis/farmacologia , Materiais Biocompatíveis/química , Alicerces Teciduais/química , Dióxido de Silício/química , Dióxido de Silício/farmacologia
16.
Angew Chem Int Ed Engl ; 63(23): e202401501, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38589296

RESUMO

Compared to sp2-hybridized graphene, graphdiynes (GDYs) composed of sp and sp2 carbon are highly promising as efficient catalysts for electrocatalytic oxygen reduction into oxygen peroxide because of the high catalytic reactivity of the electron-rich sp-carbon atoms. The desired catalytic capacity of GDY, such as catalytic selectivity and efficiency, can theoretically be achieved by strategically steering the sp-carbon contents or the topological arrangement of the acetylenic linkages and aromatic bonds. Herein, we successfully tuned the electrocatalytic activity of GDYs by regulating the sp-to-sp2 carbon ratios with different organic monomer precursors. As the active sp-carbon atoms possess electron-sufficient π orbitals, they can donate electrons to the lowest unoccupied molecular orbital (LUMO) orbitals of O2 molecules and initiate subsequent O2 reduction, GDY with the high sp-carbon content of 50 at % exhibits excellent capability of catalyzing O2 reduction into H2O2. It demonstrates exceptional H2O2 selectivity of over 95.0 % and impressive performance in practical H2O2 production, Faraday efficiency (FE) exceeding 99.0 %, and a yield of 83.3 nmol s-1 cm-2. Our work holds significant importance in effectively steering the inherent properties of GDYs by purposefully adjusting the sp-to-sp2 carbon ratio and highlights their immense potential for research and applications in catalysis and other fields.

17.
J Hazard Mater ; 471: 134291, 2024 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-38636231

RESUMO

One of the primary technologies currently being deployed for the removal of per- and polyfluoroalkyl substances (PFAS) from water is ion exchange (IX). For regenerable IX resins, concentrated PFAS in the resulting spent brine and/or still bottoms requires further treatment. This research demonstrated that PFAS in spent brine and still bottoms can be effectively degraded sonochemically at 1000 kHz. Overall, PFAS degradation was negatively impacted by high total organic carbon (TOC) and residual methanol (MeOH) solvent (up to 50 g/kg; 5% w:w), but was enhanced by the high chloride. The addition of caustic (up to 1 N NaOH) partially mitigated the inhibition by TOC and MeOH. Sonochemical degradation of individual PFAS compounds resulted in significant mineralization to form inorganic fluoride, but small quantities of volatile organic fluorine species (VOF) were noted. This is believed to be the first report of sonochemical degradation of PFAS in ion exchange regeneration wastes, and indicates the possibility for the application of this technology as part of a complete PFAS capture and destruction treatment train.

18.
Regen Biomater ; 11: rbae023, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38559647

RESUMO

Polyetherketoneketone (PEKK), a high-performance thermoplastic special engineering material, maintains bone-like mechanical properties and has received considerable attention in the biomedical field. The 3D printing technique enables the production of porous scaffolds with a honeycomb structure featuring precisely controlled pore size, porosity and interconnectivity, which holds significant potential for applications in tissue engineering. The ideal pore architecture of porous PEKK scaffolds has yet to be elucidated. Porous PEKK scaffolds with five pore sizes P200 (225 ± 9.8 µm), P400 (411 ± 22.1 µm), P600 (596 ± 23.4 µm), P800 (786 ± 24.2 µm) and P1000 (993 ± 26.0 µm) were produced by a 3D printer. Subsequently, the optimum pore size, the P600, for mechanical properties and osteogenesis was selected based on in vitro experiments. To improve the interfacial bioactivity of porous PEKK scaffolds, hydroxyapatite (HAp) crystals were generated via in situ biomimetic mineralization induced by the phase-transited lysozyme coating. Herein, a micro/nanostructured surface showing HAp crystals on PEKK scaffold was developed. In vitro and in vivo experiments confirmed that the porous PEKK-HAp scaffolds exhibited highly interconnected pores and functional surface structures that were favorable for biocompatibility and osteoinductivity, which boosted bone regeneration. Therefore, this work not only demonstrates that the pore structure of the P600 scaffold is suitable for PEKK orthopedic implants but also sheds light on a synergistic approach involving 3D printing and biomimetic mineralization, which has the potential to yield customized 3D PEKK-HAp scaffolds with enhanced osteoinductivity and osteogenesis, offering a promising strategy for bone tissue engineering.

19.
Mol Genet Genomic Med ; 12(4): e2441, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38618928

RESUMO

BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457). METHODS: This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2. RESULTS: The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved. CONCLUSION: As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.


Assuntos
Otopatias , Orelha , Micrognatismo , Humanos , Recém-Nascido , Masculino , China , Orelha/anormalidades , Fosfolipase C beta , População do Leste Asiático
20.
Environ Pollut ; 348: 123782, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38484959

RESUMO

Per- and polyfluoroalkyl substances (PFAS) are synthetic organofluorine compounds known for their chemical and physical stability as well as their wide range of uses. Some PFAS are widely distributed in the environment, leading to concerns related to both environmental and human health. High temperature thermal treatment (i.e., incineration) has been utilized for PFAS treatment, but this requires significant infrastructure and energy, prompting interest in lower temperature approaches that may still lead to efficient destruction. Lower treatment temperatures, however, increase the potential for incomplete PFAS mineralization and formation of volatile organofluorine (VOF) products. Herein, we report the formation of novel VOF products that include chlorinated and brominated compounds during the thermal treatment of potassium perfluorohexane sulfonate (PFHxS), a representative perfluoroalkyl acid (PFAA). By comparing the gas chromatography-mass spectrometry (GC-MS) results of known VOF stocks to evolved VOF during thermal treatment of PFAS, the formation of perfluorohexyl chloride and perfluorohexyl bromide was observed when PFHxS was heated at temperatures between 275 and 475 °C in the presence of NaCl and NaBr, respectively. To our knowledge, this is the first report of chlorinated or brominated VOF products during thermal treatment of a PFAA. These findings suggest that a range of mixed halogenated VOF may form during thermal treatment of PFAS at relatively low temperature (e.g., 500 °C) and that these can be a function of salts present in the matrix.


Assuntos
Ácidos Alcanossulfônicos , Fluorocarbonos , Humanos , Cloreto de Sódio , Temperatura , Alcanossulfonatos
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