Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 56
Filtrar
1.
Cell Signal ; 117: 111096, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38346528

RESUMEN

IL-36 is known to mediate inflammation and fibrosis. Nevertheless, IL-36 signalling axis has also been implicated in cancer, although understanding of exact contribution of IL-36 to cancer progression is very limited, partly due to existence of multiple IL-36 ligands with agonistic and antagonistic function. Here we explored the role of IL-36 in oral squamous cell carcinoma (OSCC). Firstly, we analyzed expression of IL-36 ligands and receptor and found that the expression of IL-36γ was significantly higher in head and neck cancer (HNSCC) than that of normal tissues, and that the high expression of IL-36γ predicted poor clinical outcomes. Secondly, we investigated the direct effect of IL-36γ on OSCC cells and found that IL-36γ stimulated proliferation of OSCC cells with high expression of IL-36R expression. Interestingly, IL-36γ also promoted migration of OSCC cells with low to high IL-36R expression. Critically, both proliferation and migration of OSCC cells induced by IL-36γ were abrogated by anti-IL-36R mAb. Fittingly, RNA sequence analysis revealed that IL-36γ regulated genes involved in cell cycle and cell division. In summary, our results showed that IL-36γ can be a tumor-promoting factor, and targeting of IL-36R signalling may be a beneficial targeted therapy for patients with abnormal IL-36 signalling.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Interleucina-1/metabolismo , Receptores de Interleucina-1/genética , Receptores de Interleucina-1/metabolismo , Carcinoma de Células Escamosas de Cabeza y Cuello , Proliferación Celular , Línea Celular Tumoral
2.
Sci Rep ; 14(1): 4038, 2024 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-38369561

RESUMEN

Due to the harsh operating environment and ultralong operating hours of wireless sensor networks (WSNs), node failures are inevitable. Ensuring the reliability of the data collected by the WSN necessitates the utmost importance of diagnosing faults in nodes within the WSN. Typically, the initial step in the fault diagnosis of WSN nodes involves extracting numerical features from neighboring nodes. A solitary data feature is often assigned a high weight, resulting in the failure to effectively distinguish between all types of faults. Therefore, this study introduces an enhanced variant of the traditional belief rule base (BRB), called the belief rule base with adaptive attribute weights (BRB-AAW). First, the data features are extracted as input attributes for the model. Second, a fault diagnosis model for WSN nodes, incorporating BRB-AAW, is established by integrating parameters initialized by expert knowledge with the extracted data features. Third, to optimize the model's initial parameters, the projection covariance matrix adaptive evolution strategy (P-CMA-ES) algorithm is employed. Finally, a comprehensive case study is designed to verify the accuracy and effectiveness of the proposed method. The results of the case study indicate that compared with the traditional BRB method, the accuracy of the proposed model in WSN node fault diagnosis is significantly improved.

3.
ACS Nano ; 18(3): 2017-2029, 2024 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-38193899

RESUMEN

Transition metal dichalcogenides (TMDs) have been widely studied as catalysts for lithium-sulfur batteries due to their good catalytic properties. However, their poor electronic conductivity leads to slow sulfur reduction reactions. Herein, a simple Zn2+ intercalation strategy was proposed to promote the phase transition from semiconducting 2H-phase to metallic 1T-phase of MoS2. Furthermore, the Zn2+ between layers can expand the interlayer spacing of MoS2 and serve as a charge transfer bridge to promote longitudinal transport along the c-axis of electrons. DFT calculations further prove that Zn-MoS2 possesses better charge transfer ability and stronger adsorption capacity. At the same time, Zn-MoS2 exhibits excellent redox electrocatalytic performance for the conversion and decomposition of polysulfides. As expected, the lithium-sulfur battery using Zn0.12MoS2-carbon nanofibers (CNFs) as the cathode has high specific capacity (1325 mAh g-1 at 0.1 C), excellent rate performance (698 mAh g-1 at 3 C), and outstanding cycle performance (it remains 604 mAh g-1 after 700 cycles with a decay rate of 0.045% per cycle). This study provides valuable insights for improving electrocatalytic performance of lithium-sulfur batteries.

4.
Sci Rep ; 13(1): 21174, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-38040771

RESUMEN

In this study, modified biochar (BRB) was prepared from rice straw by ball milling technique and used for the adsorption of methylene blue (MB) in wastewater. The BRB was characterized by SEM, FTIR and XPS, and the adsorption model and Box-Behnken design were used to optimize the five influencing factors. The results showed that the ball milling technique could increase the content of functional groups (-OH, C=C and C-O, etc.) and aromatic structures on the surface of biochar, thus facilitating the removal of MB. The isotherm model was consistent with the Langmuir adsorption model (R2 = 0.947) and the maximum adsorption capacity was 50.27 mg/g. The adsorption kinetics was consistent with the pseudo-second-order kinetic model (R2 = 1) and the adsorption rate was mainly controlled by chemisorption. The thermodynamic model confirmed that the adsorption process was a spontaneous heat absorption reaction. The maximum adsorption efficiency was 99.78% under the optimal conditions (40℃, pH 8, reaction time = 90 min, dosing amount = 0.1 mg), and the adsorption efficiency could be improved by increasing the pH and BRB dosing amount. The surface functional groups and crystal structure properties of BRB were the main determinants of adsorption, and it was clarified that physical adsorption, electrostatic attraction and π-π interaction were the main mechanisms for the adsorption of MB by BRB. The main mechanisms were clarified. Therefore, BRB is an economic, efficient and green adsorption material with good potential for the removal of dye pollutants in the aqueous environment.

5.
Clin Oral Investig ; 27(10): 6097-6109, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37632578

RESUMEN

OBJECTS: Changes in condylar position and morphology after mandibular reconstruction are important to aesthetic and functional rehabilitation. We evaluated changes in condylar position and morphology at different stages after mandibular reconstruction using vascularized fibular free flap with condyle preservation. MATERIALS AND METHODS: A total of 23 patients who underwent mandibular reconstruction with fibular flap were included in this retrospective study. CT data of all patients were recorded before surgery (T0), 7 to 14 days after surgery (T1), and at least 6 months after surgery (T2). Five parameters describing the condylar position and 4 parameters describing the morphology were measured in sagittal and coronal views of CT images. The association between clinical characteristics and changes in condylar position and morphology was analyzed. A finite element model was established to investigate the stress distribution and to predict the spatial movement tendency of the condyle after reconstruction surgery. RESULTS: The condylar position changed over time after mandibular reconstruction. The ipsilateral condyles moved inferiorly after surgery (T0 to T1) and continually move anteriorly, inferiorly, and laterally during long-term follow-up (T1 to T2). Contrary changes were noted in the contralateral condyles with no statistical significance. No morphological changes were detected. The relationship between clinical characteristics and changes in condylar position and morphology was not statistically significant. A consistent result was observed in the finite element analysis. CONCLUSION: Condylar positions showed obvious changes over time after mandibular reconstruction with condylar preservation. Nevertheless, further studies should be conducted to evaluate the clinical function outcomes and condylar position. CLINICAL RELEVANCE: These findings can form the basis for the evaluation of short-term and long-term changes in condylar position and morphology among patients who have previously undergone mandibular reconstruction by FFF with condyle preservation.

6.
J Craniofac Surg ; 34(5): e490-e493, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37291718

RESUMEN

Ossification of vascular pedicle in free fibular flap for jaw reconstruction was a rare complication. The aim of our study is to evaluate its consequence and propose our clinical experience with surgical management and outcomes of this complication. Our study includes patients who underwent jaw reconstruction with free fibular flap from Jan 2017 to Dec 2021. Patients were included only they had at least one computed tomography scan in follow-up period. Among 112 cases included in our study, 3 cases were observed of abnormal ossification along vascular pedicle who underwent maxilla (two patients) or mandibular (one patient) resection. Two patients who received maxilla resection present a progressive reduction in mouth opening after surgery, and CT scans showed calcified tissue around pedicle. Surgical revision was performed in one patient. Our experience show that periosteum preserves its osteogenic capability which allows the possibility of new bone formation along the vascular pedicle. Another important factor is mechanical stress. From our experience, it was necessary to remove periosteum from vascular pedicle only when mechanical stress of vascular pedicle were high, in order to avoid complication of vascular pedicle calcification. Surgical excision of calcification may be necessary only with clinical symptom. We believe this study could aid in understanding of pedicle ossification and contribute towards prevention and treatment of pedicle ossification.


Asunto(s)
Colgajos Tisulares Libres , Reconstrucción Mandibular , Osificación Heterotópica , Calcificación Vascular , Humanos , Colgajos Tisulares Libres/irrigación sanguínea , Osteogénesis , Osificación Heterotópica/diagnóstico por imagen , Osificación Heterotópica/etiología , Osificación Heterotópica/cirugía , Complicaciones Posoperatorias , Peroné , Reconstrucción Mandibular/efectos adversos
7.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 41(2): 185-189, 2023 Apr 01.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-37056184

RESUMEN

OBJECTIVES: This study investigate the clinical and imaging features of Ewing sarcoma (ES) of the jaw. METHODS: Eight cases of pathologically diagnosed ES of the jaw from January 2010 to June 2022 were included in the study. Clinical and radiological features were retrospectively analyzed. RESULTS: Among the eight cases, the mean age at onset was 29.4 years, and the male to female ratio was 7∶1. The predilecting site was the posterior part of mandible, accounting for 75% of the cases. The lesions often exhibited early numbness of the lower lip and lymphadenopathy. The main radiographic manifestation of mandibular lesions was ill-defined radiolucency, mixed with fibrous or brush-like tumor matrix, and soft tissue mass. The maxillary ES lesions mainly presented as lytic bone destruction accompanied by adjacent soft tissue mass. Periosteal ossification was rarely seen. CONCLUSIONS: The clinical and imaging characteristics of ES in the jaw are helpful for its diagnosis.


Asunto(s)
Neoplasias Óseas , Sarcoma de Ewing , Masculino , Humanos , Femenino , Sarcoma de Ewing/diagnóstico por imagen , Sarcoma de Ewing/patología , Estudios Retrospectivos , Radiografía , Mandíbula/patología , Labio
8.
RSC Adv ; 13(10): 6573-6581, 2023 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-36845583

RESUMEN

The effect of steel fibers (0-1.5% by volume) and polypropylene fibers (0-0.5% by volume) on chloride transport in mortars under unsaturated and saturated conditions was investigated using a natural immersion method. Moreover, the micromorphology of the fiber-mortar interface and the pore structure of fiber reinforced mortars were detected using scanning electron microscopy (SEM) and mercury intrusion porosimetry (MIP), respectively. The results show that both of the steel fibers and polypropylene fibers have an insignificant effect on the chloride diffusion coefficient of mortars, no matter under unsaturated or saturated conditions. The incorporation of steel fibers has no obvious action on the pore structure of mortars, and the interfacial zone around the steel fibers is not a preferential path for chloride transport. However, the addition of 0.1-0.5% polypropylene fibers refines the pore size of mortars, and yet slightly increases the total porosity. The polypropylene fiber-mortar interface is insignificant, while the agglomerate of polypropylene fibers exists.

9.
Front Pharmacol ; 13: 1056337, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36506509

RESUMEN

Oral squamous cell carcinoma (OSCC) is the most common malignant tumor in the oral and maxillofacial regions, with a high rate of metastasis. Cancer-associated fibroblasts (CAFs) play critical roles in tumor growth, metastasis and invasion, making them attractive therapeutic targets for cancer treatment. As an old anti-coccidiosis drug for poultry, Halofuginone (HF) has also been reported to possess anti-fibrosis and anti-cancer activities in the recent decades. However, whether it works by targeting CAFs in OSCC, and the mechanisms involved remain unclear. In the present study, we observed HF dose-dependently inhibits OSCC-derived CAF viability and proliferation. Meanwhile, HF decreased the expressions of α-SMA, FSP-1 and PDGFRß, markers of the malignant phenotype of CAFs, both at mRNA and protein levels. Furthermore, functional studies demonstrated that HF dramatically attenuates the promotion effect of CAFs on OSCC cell migration and invasion. Mechanistically, the inhibition of MMP2 secretion and the upstream TGF-ß/Smad2/3 signaling pathway played an important role in these processes. In the orthotopic transplanted tongue carcinoma in mice model, we confirmed that HF administration inhibited tumor growth and lymph node metastasis (LNM) with reduced CAF population, MMP2 expression and collagen deposition in tumor. Altogether, these results indicate that HF can inhibit the migration and invasion of OSCC by targeting CAFs, which will provide new ideas for the treatment of OSCC.

10.
Entropy (Basel) ; 24(11)2022 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-36359681

RESUMEN

Effective fault-diagnosis strategies have been the focus of research on multi-agent systems (MASs). In this paper, the belief rule base (BRB)-based distributed fault-diagnosis problem for MASs is investigated, and a topology-switching strategy is developed to increase the reliability of fault-diagnosis model. Firstly, a BRB-based distributed fault-diagnosis model is constructed for the MAS with multiple faults, then expert knowledge is used to judge whether the agent is faulty. Then, considering that the system may be influenced by the fault or some other factors and thus leading to a decrease in the accuracy of the fault-diagnosis results, a topology-switching strategy based on the average distance of the output diagnosis accuracy is proposed to update the topology of the agent so that the fault-diagnosis results can be more reliable. Note that the topology-switching threshold is designed based on the average distance between the accuracy of the fault diagnosis of each agent. The method proposed in this paper can solve the problem when the fault-diagnosis accuracy of the model is affected by some common factors and thus decreases, and can improve the reliability of the fault-diagnosis model very well. Finally, the effectiveness of the BRB-based distributed fault-diagnosis model and the proposed topology-switching strategy to improve the fault-diagnosis accuracy is verified by simulation examples.

11.
Heliyon ; 8(10): e10879, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36247121

RESUMEN

Wireless sensor network (WSN) is inevitably subject to node failures due to their harsh operating environments and extra-long working hours. In order to ensure reliable and correct data collection, WSN node fault diagnosis is necessary. Fault diagnosis of sensor nodes usually requires the extraction of data features from the original collected data. However, the data features of different types of faults sometimes have similarities, making it difficult to distinguish and represent the types of faults in the diagnosis results, these indistinguishable types of faults are called ambiguous information. Therefore, a belief rule base with power set (PBRB) fault diagnosis method is proposed. In this method, the power set identification framework is used to represent the fuzzy information, the evidential reasoning (ER) method is used as the reasoning process, and the projection covariance matrix adaptive evolution strategy (P-CMA-ES) is used as the parameter optimization algorithm. The results of the case study show that PBRB method has higher accuracy and better stability compared to other commonly used fault diagnosis methods. According to the research results, PBRB can not only represent the fault types that are difficult to distinguish, but also has the advantage of small sample training. This makes the model obtain high fault diagnosis accuracy and stability.

12.
Anal Biochem ; 655: 114853, 2022 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-35970412

RESUMEN

An early diagnosis of salivary gland tumors (SGTs) and determination of their malignancy are conducive to developing individualized therapeutic strategies and thus improving prognosis. The aim of this study was to investigate the difference of serum metabolic profiles in patients with SGTs to better understand the mechanism of this disease and disease risk stratification. We used ultrahigh-performance liquid chromatography Q Exactive mass spectrometry and multivariate statistical analyses to conduct a comprehensive analysis of serum metabolites in a population with normal control and SGTs. 32 differentially expressed metabolites were identified, while the level of serine and lactic acid were investigated to gradually upregulate in benign SGTs and malignant SGTs. Then, the expression of serine and lactic acid were assessed in validation cohort using multiple reaction monitoring (MRM) based targeted metabolite analysis. A risk score formula based on the amount of serine and lactic acid was developed and explored to be significantly related to benign SGTs and malignant SGTs in discovery and validation cohort. Our work highlights the possible use of the risk score assessment based on the serum metabolites not only reveal in the early diagnosis of SGTs but also assist in enhancing current therapeutic strategies in the clinic.


Asunto(s)
Neoplasias de las Glándulas Salivales , Humanos , Ácido Láctico , Metabolómica , Pronóstico , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/metabolismo , Neoplasias de las Glándulas Salivales/patología , Serina
13.
World J Clin Cases ; 10(14): 4436-4445, 2022 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-35663053

RESUMEN

BACKGROUND: Metastatic adenocarcinoma of the jaw (MAJ) is a rare disease that accounts for 1%-3% of all oral and maxillofacial malignant tumours. Oral and maxillofacial pain may be the first symptom of metastatic spread of an occult primary tumour. Therefore, early identification of oral and maxillofacial pain by dental professionals is critical. AIM: To explore the clinical and computerized tomography (CT) features of MAJ with oral and maxillofacial pain as the first symptom. METHODS: The medical records of all patients who were treated in our hospital between January 2006 and February 2020, and diagnosed with MAJ with oral and maxillofacial pain as the first symptom, were reviewed retrospectively. Clinical data were collected on age, sex, medical history, clinical manifestations, site of metastasis, and site of the primary lesion. CT features were analysed in detail, and a radiological classification scheme comprising five types: Osteolytic, osteoblastic, mixed, cystic, and alveolar bone resorption was proposed. RESULTS: The primary sites of MAJ were the lungs (n = 6), liver (n = 4), kidneys (n = 2), prostate (n = 1), and gastric cardia (n = 1). Five tumours were classified as the osteolytic type, all with a permeative margin (100%, P < 0.05), and three were classified as the mixed type, mostly with a moth-eaten margin (80%, P < 0.05). The cystic (n = 3) and alveolar bone resorption (n = 1) types had geographic margins, and the osteoblastic type (n = 1) had sclerotic margins. Moreover, nine tumours showed periosteal reaction and five showed a localised soft tissue mass, while the occurrence of jaw expansion was relatively rare. CONCLUSION: MAJ has complex clinical and CT features. Oral and maxillofacial pain may be the first sign of a primary tumour affecting other sites.

14.
Gland Surg ; 11(2): 352-357, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35284313

RESUMEN

Background: Advanced oral squamous cell carcinoma (OSCC) has large lesions and deep infiltration, and the control of safe surgical margins was difficult. If residual tumor remains after incomplete tumor resection, it can lead to local tumor recurrence or even distant metastasis. This study sought to investigate the clinical application of indocyanine green (ICG)-based near-infrared fluorescence (NIF) molecular imaging in the intraoperative detection of surgical margins of advanced OSCC. Methods: Twenty-nine patients with advanced OSCC treated at the First Ward of Oral and Maxillofacial Surgery, Nanjing Stomatological Hospital were divided into the ICG group and non-ICG group. In the ICG group, the tumors were removed with the assistance of ICG fluorescence navigation technology. In the non-ICG group, the tumors were removed with conventional methods, and the cutting-edge tissues of the two groups underwent frozen biopsies. The margin abnormality rates were calculated and compared. Results: Under the excitation of NIF in the ICG group, tumor fluorescence development was observable in all lesions, and the tumor boundary was clear. The abnormal rates of the incisional margin in the ICG group and non-ICG group were 0.78% and 6.25%, respectively (P<0.05). Conclusions: ICG-mediated NIF imaging technology provides a new method for observing and completely resecting tumors under direct vision during operation, and finding residual tumors at the cutting edge in time. These results will inform the treatment of advanced OSCC.

15.
Front Cardiovasc Med ; 9: 782601, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35174231

RESUMEN

INTRODUCTION: Complex ectopic drainage of body veins is a rare congenital disease. Its preoperative diagnosis and surgical choice can be considerable challenges. CASE SUMMARY: A 5-year-old patient was diagnosed precisely by preoperative transthoracic echocardiography, computed tomography (CT), three-dimensional (3D) reconstruction, and three-dimensional (3D) printing of the heart and great blood vessels. The operation was performed successfully using flexible intraoperative intubation strategies. CONCLUSION: 3D printing technology can assist in the formulation of surgical protocols for complex body vein ectopic drainage. Flexible intubation strategies can increase the success of the operation.

16.
Biomolecules ; 11(12)2021 12 07.
Artículo en Inglés | MEDLINE | ID: mdl-34944486

RESUMEN

BACKGROUND: Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), a key enzyme that catalyzes the hydroxylation of lysine, plays a crucial role in the progression of several solid tumors. However, its spatial expression profile and prognostic significance in oral squamous cell carcinoma (OSCC) have not been revealed. MATERIALS: Mass spectrometry was used to explore amino acid perturbations between OSCC tumor tissues and paired normal tissues of 28 patients. Then, PLOD2 mRNA and protein levels were assessed using several public databases and 18 pairs of OSCC patients' tissues. Additionally, PLOD2 spatial expression profiles were investigated in 100 OSCC patients by immunohistochemistry and its diagnostic and prognostic values were also evaluated. Lastly, gene set enrichment analysis (GSEA) was used to investigate the potential functions of PLOD2 in OSCC. RESULTS: Lysine was significantly elevated in OSCC tissues and could effectively distinguish tumor from normal tissues (AUC = 0.859, p = 0.0035). PLOD2 mRNA and protein levels were highly increased in tumor tissues of head and neck squamous cell carcinoma (HNSCC) (p < 0.001) and OSCC compared with those in nontumor tissues (p < 0.001). Histopathologically, PLOD2 was ubiquitously expressed in tumor cells (TCs) and fibroblast-like cells (FLCs) of OSCC patients but absent in tumor-infiltrating lymphocytes (TILs). Patients with highly expressed PLOD2 in TCs (PLOD2TCs) and FLCs (PLOD2FLCs) showed poor differentiation, a worse pattern of invasion (WPOI) and more lymph node metastasis (LNM), contributing to higher postoperative metastasis risk and poor survival time. However, PLOD2FLCs rather than PLOD2TCs was an independent risk factor for survival outcomes in OSCC patients. Molecularly, GSEA demonstrated highly expressed PLOD2 was mainly enriched in epithelial-mesenchymal transformation (EMT), TGF-beta signaling and hypoxia pathway, which are associated with poor clinical outcomes of OSCC patients. CONCLUSIONS: PLOD2 was a poor prognostic biomarker for OSCC patients and may affect the metastasis of OSCC through EMT pathway. These findings might shed novel sights for future research in PLOD2 targeted OSCC therapy.


Asunto(s)
Carcinoma de Células Escamosas/patología , Lisina/metabolismo , Neoplasias de la Boca/patología , Procolágeno-Lisina 2-Oxoglutarato 5-Dioxigenasa/genética , Procolágeno-Lisina 2-Oxoglutarato 5-Dioxigenasa/metabolismo , Regulación hacia Arriba , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/metabolismo , Línea Celular Tumoral , Supervivencia sin Enfermedad , Transición Epitelial-Mesenquimal , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Metástasis Linfática , Masculino , Espectrometría de Masas , Neoplasias de la Boca/genética , Neoplasias de la Boca/metabolismo , Estadificación de Neoplasias , Pronóstico
17.
BMC Cardiovasc Disord ; 21(1): 12, 2021 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-33413087

RESUMEN

BACKGROUND: Although most cases of atrial septal defect (ASD) are sporadic, familial cases have been reported, which may be caused by mutation of transcription factor GATA binding protein 4 (GATA4). Herein we combined whole-exome sequencing and bioinformatics strategies to identify a novel mutation in GATA4 accounting for the etiology in a Chinese family with ASD. METHODS: We identified kindred spanning 3 generations in which 3 of 12 (25.0%) individuals had ASD. Punctilious records for the subjects included complete physical examination, transthoracic echocardiography, electrocardiograph and surgical confirming. Whole-exome capture and high-throughput sequencing were performed on the proband III.1. Sanger sequencing was used to validate the candidate variants, and segregation analyses were performed in the family members. RESULTS: Direct sequencing of GATA4 from the genomic DNA of family members identified a T-to-C transition at nucleotide 929 in exon 5 that predicted a methionine to threonine substitution at codon 310 (M310T) in the nuclear localization signal (NLS) region. Two affected members (II.2 and III.3) and the proband (III.1) who was recognized as a carrier exhibited this mutation, whereas the other unaffected family members or control individuals did not. More importantly, the mutation GATA4 (c.T929C: p.M310T) has not been reported previously in either familial or sporadic cases of congenital heart defects (CHD). CONCLUSIONS: We identified for the first time a novel M310T mutation in the GATA4 gene that is located in the NLS region and leads to family ASD with arrhythmias. However, the mechanism by which this pathogenic mutation contributes to the development of heart defect and tachyarrhythmias remains to be ascertained.


Asunto(s)
Arritmias Cardíacas/genética , Factor de Transcripción GATA4/genética , Defectos del Tabique Interatrial/genética , Mutación , Adolescente , Adulto , Anciano , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatología , Niño , Preescolar , Biología Computacional , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Defectos del Tabique Interatrial/diagnóstico , Defectos del Tabique Interatrial/fisiopatología , Herencia , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Secuenciación del Exoma
18.
J Environ Manage ; 267: 110638, 2020 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-32421671

RESUMEN

To solve the problems of low early strength and severe plastic cracking caused by high volume fly ash used in cement-based materials. Triethanolamine (TEA), calcium hydroxide (Ca(OH)2), and sodium silicate (Na2SiO3) or sodium sulfate (Na2SO4) were selected to conduct a ternary doping test. The compressive strength of samples was measured to determine the best ratio, content, and time effect of the activator, and its action mechanism was studied by various micro test. The quantitative calculation model of main hydration products was established in the fly ash-cement system. Based on the simulation of molecular dynamics, the structure of NASH gel was studied under alkali activation. The results show that the optimal mixing mass ratio of TEA:Ca(OH)2:Na2SiO3 is 2:75:25 and the optimal dosage is 1.02% of the cementitious material. There are a large number of needle-like ettringite, petaloid hydrated calcium aluminate and clusters of hydrated calcium silicate gel in the system, whereas the amount of plate-like CH decreased significantly at hydration for 14 days. The Si/Al is three and aluminium coordination is predominantly tetrahedral, and the order of bonds stability and atoms mobility are Si-O > Al-O > Na-O and Na > O > Al> in the NASH gel, respectively. Under the Na+ and alkali environment, the Si(OH)4 and Al(OH)4- formed polycondensation reaction to reform polymers Si-O-Si and Al-O-Si, forming a large amount of NASH gel.


Asunto(s)
Ceniza del Carbón , Materiales de Construcción , Álcalis , Aluminio , Fuerza Compresiva
19.
Dentomaxillofac Radiol ; 49(6): 20190426, 2020 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-32320271

RESUMEN

Sclerosing odontogenic carcinoma (SOC) is a primary intraosseous carcinoma of the jaw that was listed as a separate entity for the first time in the latest version of the World Health Organization classification of Head and Neck Tumors (2017). In this report, we present a case of SOC involving a circuitous diagnostic process because of the inadequately detailed biopsy findings and inherent impression based on the imaging manifestations. Through an extensive literature review, the histopathological and immunohistochemical features of the disease were briefly summarized. Radiological findings of SOC have been characterized in detail, and an imaging classification scheme has been proposed to further discuss the diversity of radiographic features. Due to the rarity of the disease, a comprehensive understanding of SOC is needed, and close collaboration between clinicians, radiologists, and pathologists is crucial to avoid misdiagnosis.


Asunto(s)
Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Tumores Odontogénicos/diagnóstico por imagen , Errores Diagnósticos , Humanos , Mandíbula
20.
Cancer Manag Res ; 12: 277-287, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32021442

RESUMEN

INTRODUCTION: The incidence of tongue squamous cell carcinoma (TSCC) has increased in recent decades. However, the function of long non-coding RNA (lncRNA) CASC9 in the occurrence and progression of TSCC is unclear. In this work, we attempted to clarify the role of lncRNA CASC9 in determining the phenotype of TSCC cells, and to clarify the underlying mechanisms. METHODS: We used qRT-PCR analysis to identify the level of CASC9 mRNA expression in TSCC clinical samples and cell lines. We investigated cell proliferation, and cell migration and invasion of TSCC cells transfected with siCASC9 or siNC using CCK-8 and transwell assays. Bioinformatics analysis and a luciferase reporter assay were employed to predict and verify the target microRNA (miRNA). RESULTS: CASC9 was up-regulated in the TSCC tissues and cells, and predicted a poor prognosis. CASC9 silencing significantly inhibited cell proliferation, migration, and invasion of the TSCC cells compared with the non-targeting control small interfering RNA (siCtrl) treatment. miR-423-5p was predicted as the targeting miRNA of CASC9; this was verified by a luciferase reporter assay. CASC9 expression showed a negative correlation with miR-423-5p expression and a positive correlation with SOX12 expression. The miR-423-5p inhibitor can rescue the carcinogenesis effect of CASC9 on TSCC cells. CONCLUSION: Our work indicates that CASC9 plays a role in TSCC tumorigenesis; this novel information will improve TSCC molecular targeting therapy.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...