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1.
Plant Cell ; 2022 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-34999846

RESUMO

Reactive oxygen species (ROS) are vital for plant immunity and regulation of their production is crucial for plant health. While the mechanisms that elicit ROS production have been relatively well studied, those that repress ROS generation are less well understood. Here, via screening Brachypodium distachyon RNA interference (RNAi) mutants, we identified BdWRKY19 as a negative regulator of ROS generation whose knockdown confers elevated resistance to the rust fungus Puccinia brachypodii. The three wheat paralogous genes TaWRKY19 are induced during infection by virulent P. striiformis f. sp. tritici (Pst) and have partially redundant roles in resistance. The stable overexpression of TaWRKY19 in wheat increased susceptibility to an avirulent Pst race, while mutations in all three TaWRKY19 copies conferred strong resistance to Pst by enhancing host plant ROS accumulation. We show that TaWRKY19 is a transcriptional repressor that binds to a W-box element in the promoter of TaNOX10, which encodes an NADPH oxidase and is required for ROS generation and host resistance to Pst. Collectively, our findings reveal that TaWRKY19 compromises wheat resistance to the fungal pathogen and suggest TaWRKY19 as a potential target to improve wheat resistance to the commercially important wheat stripe rust fungus.

2.
Artigo em Inglês | MEDLINE | ID: mdl-35020041

RESUMO

PURPOSE: To summarize a 10-year, single-institution experience with ethanol embolization of nasal arteriovenous malformations (NAVMs) in 52 patients. PATIENTS AND METHODS: The present work was a retrospective study of 52 patients (aged between 1 and 67 years) with NAVMs who were treated with ethanol embolization between August 2009 and August 2019. The diagnosis of NAVMs was established based on clinical and imaging studies including ultrasound, computer tomography angiography, and digital subtract angiography. Embolization techniques used in the current study included transarterial, direct puncture, and a combination of both. The clinical and angiographic features, treatment methods, clinical outcomes, and complications were assessed within the mean period of 55.2 months (range, 1-119 months) after the last embolization. RESULTS: The total number of embolization sessions (140 embolization procedures in 52 pts) included transarterial approach (1 pt), direct puncture (2 pt), and a combination of transarterial and direct puncture (49 pts). There was a positive correlation between nidus size and treatment sessions (r = 0.780, P = 0.0005) and the amount of ethanol injected (r = 0.840, P = 0.0004). Results of the current study showed that the therapeutic outcomes were complete response in two patients (3.8%) without recurrence throughout the follow-up period (range, 1-119 months; mean, 55.2 months), and partial response in 50 patients (96.2%). A total of seven patients (13.5%) experienced one or more complications, including skin necrosis in one patient (1.9%), transient hemoglobinuria in five patients (9.6%), and skin blister in five patients (9.6%). CONCLUSION: The reported single-institution experience evidently indicated that ethanol embolotherapy has the potential to successfully devascularize NAVMs and also significantly improve symptoms and signs. Further, it was evident that the use of a combination of transarterial and direct puncture techniques has the potential to increase the rate of therapeutic response in patients with NAVMs.

3.
J Refract Surg ; 38(1): 35-42, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35020538

RESUMO

PURPOSE: To develop a novel index that combines the locations and magnitudes of corneal alterations to improve discrimination of eyes with subclinical keratoconus from normal eyes. METHODS: A Scheimpflug-based tomography system was used to image 252 eyes (normal: 78 eyes, subclinical keratoconus: 71 eyes, and keratoconus: 103 eyes) of 252 patients from two clinical centers. Coordinates and magnitudes of the maximum corneal protrusion alterations were extracted from curvature, elevation, and pachymetry maps. A location consistency index (LCI) was calculated from the Euclidean distances among these locations. A logistic regression model, named the location consistency enhanced score (LCES), which combined the LCI and the magnitudes of these maximum alterations, was trained and tested in two different datasets. RESULTS: The LCI in eyes with subclinical keratoconus was 7.8 ± 2.6 µm, which was significantly different from that in normal eyes (11.8 ± 3.9 µm) and eyes with keratoconus (5.8 ± 2.4 µm) (all P < .001). The LCI could differentiate eyes with subclinical keratoconus from normal eyes with a sensitivity of 67.6%, specificity of 83.3%, and area under the receiver operating characteristic curve (AUC) of 0.81. Combining the magnitudes of these maximum alterations with the LCI for the LCES yielded a sensitivity of 90.0% and a specificity of 74.4% for differentiating eyes with subclinical keratoconus from normal eyes (AUC: 0.91). CONCLUSIONS: The LCI can assist in differentiating eyes with subclinical keratoconus from normal eyes. The LCES is a potential new index to assist in a confirmatory test of eyes with subclinical keratoconus. [J Refract Surg. 2022;38(1):35-42.].


Assuntos
Ceratocone , Córnea , Paquimetria Corneana , Topografia da Córnea , Humanos , Ceratocone/diagnóstico , Curva ROC , Estudos Retrospectivos
4.
IEEE Trans Image Process ; 31: 239-250, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34847030

RESUMO

Video deraining is an important issue for outdoor vision systems and has been investigated extensively. However, designing optimal architectures by the aggregating model formation and data distribution is a challenging task for video deraining. In this paper, we develop a model-guided triple-level optimization framework to deduce network architecture with cooperating optimization and auto-searching mechanism, named Triple-level Model Inferred Cooperating Searching (TMICS), for dealing with various video rain circumstances. In particular, to mitigate the problem that existing methods cannot cover various rain streaks distribution, we first design a hyper-parameter optimization model about task variable and hyper-parameter. Based on the proposed optimization model, we design a collaborative structure for video deraining. This structure includes Dominant Network Architecture (DNA) and Companionate Network Architecture (CNA) that is cooperated by introducing an Attention-based Averaging Scheme (AAS). To better explore inter-frame information from videos, we introduce a macroscopic structure searching scheme that searches from Optical Flow Module (OFM) and Temporal Grouping Module (TGM) to help restore latent frame. In addition, we apply the differentiable neural architecture searching from a compact candidate set of task-specific operations to discover desirable rain streaks removal architectures automatically. Extensive experiments on various datasets demonstrate that our model shows significant improvements in fidelity and temporal consistency over the state-of-the-art works. Source code is available at https://github.com/vis-opt-group/TMICS.

5.
Int J Gen Med ; 14: 8689-8710, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34849012

RESUMO

Introduction: As a highly aggressive tumor with a poor prognosis, esophageal cancer (ESCA)'s relationship with gene mutations is unclear. Therefore, we tried to explore the role of gene mutation in ESCA progression and its relationship with immune response, clinical treatment, and prognosis. Methods: In addition to copy number variation (CNV) situations of common genes obtained from 2 public databases, the relationship between mutations and prognosis/tumor mutational burden (TMB) was also analyzed. Kaplan-Meier survival and Cox regression analysis were used to identify the CSMD1 mutation status as an independent predictor of prognosis. We also enriched related functions and pathways. Next, the relationship between 22 immune cells and CSMD1 mutation status was analyzed. In addition to the differences in the expression levels of immune checkpoint inhibitors (ICIs)-related genes between the high TMB and low TMB groups, the differences in the expression levels of ICIs/m6a/multi-drug resistance-related genes and the sensitivity of three chemotherapeutic drugs between CSMD1 mutant and the wild group were also compared. In addition to differences and prognostic analysis of CSMD1 expression, the correlation analysis between the expression of these genes/immune cells and the expression of CSMD1 was also performed. Finally, a nomogram that could efficiently and conveniently predict the survival probability of ESCA patients was constructed and verified. Results: We obtained 17 frequently mutated genes distribution. Mutation and loss of CSMD1 are frequent in ESCA. Only CSMD1 mutation can be used as an independent predictor of poor prognosis. Patients in the high TMB group have a lower survival probability. Wild CSMD1 may be involved in immune-related pathways. More helper T cells and fewer resting state dendritic cells were found in the CSMD1 mutant group. The PD-1 expression in the high TMB group showed higher. Paclitaxel sensitivity and ABCC1 expression were higher in the wild CSMD1 group. Most cancers show differential expression of CSMD1. Except for the prognosis of ESCA, the expression of CSMD1 is related to immune cell content and the expression of ICIs/m6a/multi-drug resistance related genes. Discussion: CSMD1 mutation could be used as an immune-related biomarker to predict prognosis and treatment effect of paclitaxel. Mutation and loss of CSMD1 may promote the progression of ESCA.

6.
Cancer Cell Int ; 21(1): 651, 2021 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-34872582

RESUMO

BACKGROUND: Circular RNAs (circRNAs) act pivotal roles in the progression of multiple malignancies. However, the underlying mechanisms by which hsa_circ_0007031 (circTUBGCP3) contributes to lung adenocarcinoma (LAC) remain largely unknown. METHODS: The association of circTUBGCP3 expression with clinicopathological characteristics and prognosis in patients with LAC was determined by RT-qPCR and fluorescence in situ hybridization. The in vitro functional experiments as well as a subcutaneous tumorigenesis model were executed to estimate the role of circTUBGCP3 in LAC cells. The interaction between circTUBGCP3 and miR-885-3p was confirmed by RNA immunoprecipitation, luciferase gene report and RT-qPCR assays. The effects of circTUBGCP3 on miR-885-3p-mediated Wnt10b/ß-catenin signaling were evaluated by Western blot. RESULTS: The upregulation of circTUBGCP3 or downregulation of miR-885-3p was associated with the pathological stage and poor survival in patients with LAC. Restored expression of circTUBGCP3 facilitated the growth and invasion of LAC cells, but knockdown of circTUBGCP3 harbored the opposite effects. In mechanism, circTUBGCP3 could act as a sponge of miR-885-3p, which suppressed the cell proliferation and colony formation and attenuated the tumor-promoting effects of circTUBGCP3. Wnt10b as a target of miR-885-3p could be upregulated be circTUBGCP3 and indicate poor survival in patient with LAC. CONCLUSIONS: Our findings demonstrated that circTUBGCP3 promoted LAC progression by sponging miR-885-3p, and might represent a prognostic factor for LAC.

7.
J Int Med Res ; 49(12): 3000605211060672, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34855533

RESUMO

OBJECTIVE: This study aimed to investigate the catch-up growth pattern of singleton full-term small for gestational age (SGA) infants in the first year after birth. METHODS: A single-center retrospective cohort study was performed to assess singleton full-term SGA infants. Weight, length, and head circumference were measured at birth, and at 1, 3, 6, and 12 months of age. RESULTS: Two hundred ten SGA infants were included in this study. Boys (n = 90) and girls (n = 120) showed a similar gestational age, birth weight, and body length. Weight, length, and head circumference in SGA infants in all age groups increased with age, with the fastest growth stage from birth to 3 months. The speed of weight and head circumference catch-up was higher than that of body length. At 12 months, significant associations of height in boys with height of the fathers, mothers, and both parents combined appeared. The height of girls showed associations with the mothers' and the parents' height. CONCLUSIONS: Full-term SGA infants grow rapidly after birth, with the fastest growth rate in the first 3 months, as examined by weight, body length, and head circumference. However, the catch-up speed of weight and body length were not balanced in this study.

8.
Oral Health Prev Dent ; 19(1): 683-688, 2021 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-34918502

RESUMO

PURPOSE: To investigate the prophylactic effect of lysine-specific protease (Kgp) vaccine on experimental periodontitis in mice. MATERIALS AND METHODS: We constructed the eukaryotic expression plasmid pVAX1-kgp and immunised mice with the recombinant plasmid. Mice were divided into two groups and immunised with pVAX1-kgp or pVAX1 three times at 2-week intervals. Immunoglobulin (Ig)G, IgG1 and IgG2a antibodies were detected by enzyme-linked immunosorbent assay (ELISA) before and after immunisation. At the last immunisation, a silk ligature infiltrated with Porphyromonas gingivalis (P. gingivalis) was tied at the neck of the maxillary second molar to induce experimental periodontitis. Each group was euthanised after 10 days, and microcomputed tomography (micro-CT) and hematoxylin-eosin (HE) staining were used to detect the loss of alveolar bone. RESULTS: Comparison with the pVAX1 group indicated that mice immunised with Kgp had higher levels of IgG (P < 0.05); the levels of the IgG1 were statistically significantly different (p < 0.05), and the levels of the IgG2a subtype were not significantly different. The results of micro-CT and HE staining showed that the alveolar bone loss in the pVAX1-kgp group was statistically significantly less than that in the pVAX1 group (p < 0.05). The expression of the related inflammatory factors, including interleukin-1ß (IL-ß), tumour necrosis factor (TNF-α) and interleukin-6 (IL-6), was lower in the pVAX1-kgp group than in the pVAX1 group. CONCLUSION: The Kgp DNA vaccine can enhance IgG levels in a model of experimental periodontitis, effectively activate immunity, and mitigate alveolar bone loss.


Assuntos
Periodontite , Vacinas de DNA , Animais , Camundongos , Periodontite/prevenção & controle , Microtomografia por Raio-X
9.
Artigo em Inglês | MEDLINE | ID: mdl-34948897

RESUMO

As a transitional zone between urban and rural areas, the peri-urban areas are the areas with the most intense urban expansion and the most frequent spatial reconfiguration, and in this context, it is particularly important to reveal the evolution pattern of rural settlements in the peri-urban areas to provide reference for the rearrangement of rural settlements. The study takes five townships in the urban suburbs, and explores the scale, shape, spatial layout, and spatial characteristics of the urban suburbs of Hefei from 1980 to 2030 under the influence of urban-lake symbiosis based on spatial mathematical analysis and geographical simulation software. The study shows that: (1) the overall layout of rural settlements in the study area is randomly distributed due to the hilly terrain, but in small areas there is a high and low clustering phenomenon, and the spatial density shows the distribution characteristics of "high in the east and low in the west"; (2) since the reform and opening up, there are large spatial differences in the scale of rural settlements in the study area. (3) Different development scenarios have a strong impact on the future spatial pattern of rural settlement land use within the study area, which is a strong reflection of policy.


Assuntos
População Rural , Áreas Alagadas , China , Simulação por Computador , Geografia , Humanos
10.
Artigo em Inglês | MEDLINE | ID: mdl-34825759

RESUMO

Novel bionanocatalysts have opened a new era in fighting multidrug-resistant (MDR) bacteria. They can kill bacteria by elevating the level of reactive oxygen species (ROS) in the presence of chemicals like H2O2. However, ROSs' ultrashort diffusion distance limit their bactericidal activity. We present a nanohook-equipped bionanocatalyst (Ni@Co-NC) with bacterial binding ability that shows robust ROS-generating capacity under physiological H2O2 levels. The Ni@Co-NC's pH-dependent performance confines its effects to the biofilm microenvironment, leaving healthy tissue unaffected. Furthermore, it can generate heat upon NIR laser irradiation, enhancing its catalytic performance while achieving heat ablation against bacteria. With the Ni@Co-NC's synergistic effects, bacterial populations fall by >99.99%. More surprisingly, mature biofilm shows no recurrence after treatment with the Ni@Co-NC, demonstrating its tremendous potential for treating MDR bacterial related infections.

11.
Foods ; 10(11)2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34829172

RESUMO

In recent years, chronic diseases including obesity, diabetes, cancer, cardiovascular, and neurodegenerative disorders have been the leading causes of incapacity and death globally. Increasing evidence suggests that improvements of lifestyle habits and diet is the most commonly adopted strategy for the prevention of chronic disorders. Moreover, many dietary compounds have revealed health-promoting benefits beyond their nutritional effects. It is worth noting that diet plays an important role in shaping the intestinal microbiota. Coarse cereals constitute important sources of nutrients for the gut microbiota and contribute to a healthy gut microbiome. Furthermore, the gut microbiota converts coarse cereals into functional substances and mediates the interaction between the host and these components. In this study, we summarize the recent findings concerning functional components of cereal grains and their potential chemopreventive activity via modulating the gut microbiota.

12.
Artigo em Inglês | MEDLINE | ID: mdl-34769640

RESUMO

The quantitative and spatial-temporal variations in the characteristics of ecosystem value can be helpful to improve environmental protection and climate adaptation measures and adjust the balance between economic development and the ecological environment. The arid and semi-arid regions of China are undergoing the effects of climate change across the entire northern hemisphere. Their ecological environments are fragile and in conflict with anthropogenic activities, which significantly altered more ecosystems services in these regions. Therefore, estimating the effects of anthropogenic activities on ecosystem services is important for formulating ecological policy and regional environmental mitigation plans of these regions. This study employed the model of ecosystem service value (ESV) assessment and the bivariate spatial autocorrelation method to reveal the spatiotemporal variations in the characteristics of ecosystem value in the arid and semi-arid ecological regions of China and its interaction with human activities. Results showed that (1) the total value of ES of the study area increased from USD 487,807 billion in 2000 to USD 67,831,150 billion 2020; (2) the ES value provided by forest land first increased by 5.60% from 2000 to 2020; (3) the ESV provided by grassland showed an overall decline over the 20 years. Food and raw material production showed the lowest ES value, and climate regulation and soil conservation decreased from 2000 to 2020; (4) the index of human footprint patches decreased from 45.80% in 2000 to 17.63% in 2020, while the high and very high human footprint index areas increased significantly, mainly due to the rapid urbanization and improvement of railway networks in these areas. Spatially, the regions with high human footprint were mostly dispersed in the northeastern of China such as Shanxi and Gansu, whereas the regions with a low human footprint remained mainly located in the central and southwestern parts of China; (5) significant spatial dependencies between changes in ESV and the human footprint index were recorded. Our study could provide a scientific basis for ecosystem functions regulation and land development security in arid and semi-arid ecological regions.


Assuntos
Conservação dos Recursos Naturais , Ecossistema , China , Atividades Humanas , Humanos , Urbanização
13.
Front Chem ; 9: 765374, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34805096

RESUMO

The development of molecular crystalline materials with efficient room-temperature phosphorescence has been obtained much attention due to their fascinating photophysical properties and potential applications in the fields of data storage, bioimaging and photodynamic therapy. Herein, a new co-crystal complex [(DCPA) (AD)2] (DCPA = 9,10-di (4-carboxyphenyl)anthracene; AD = acridine) has been synthesized by a facile solvothermal process. Crystal structure analysis reveals that the co-crystal possesses orderly and alternant arrangement of DCPA donors and AD acceptors at molecular level. Fixed by strong hydrogen bonds, the DCPA molecule displays seriously twisty spatial conformation. Density functional theory (DFT) calculations show well separation of HOMO and LUMO for this co-crystal system, suggesting the efficient triplet excitons generation. Photoluminescence measurements show intensive cyan fluorescence (58.20 ns) and direct white phosphorescence (325 µs) emission at room-temperature. The transient current density-time curve reveals a typical switching electric response under the irradiation of simulated light, reveal that the [(DCPA) (AD)2] co-crystal has a high photoelectric response performance.

14.
ACS Appl Mater Interfaces ; 13(46): 54840-54849, 2021 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-34756008

RESUMO

An understanding of cellular mechanoresponses to well-defined synthetic topographic features is crucial for the fundamental research and biomedical applications of stem cells. Structured biointerfaces, in particular the ones with nanometer and/or micrometer surficial features, have drawn more attention in the past few decades. However, it is still difficult to integrate nanostructures and microstructures onto the synthesized biointerfaces to mimic the hierarchical architecture of the native extracellular matrix (ECM). Herein, a series of "raspberry"-like hierarchical surfaces with well-defined nanofeatures and tunable nano/microfeatures have been achieved via a catecholic polymer coating technique. Cellular responses to these hierarchical interfaces were systemically studied, indicating that the nanofeatures on the raspberry surfaces significantly enhanced the mechanosensing of human mesenchymal stem cells (hMSCs) to interfacial physical cues. Cell mechanotransduction was further investigated by analyzing focal adhesion assembling, cytoskeleton organization, cell nuclear mechanics, and transcriptional activity. The results suggest that nanosize surficial features could increase cellular mechanosensing to environment physical cues. The mechanotransduction and cell fate specification were greatly enhanced by the ECM mimicking nano/microhierarchical biointerfaces but the features should be in an optimized size.

15.
Front Cell Infect Microbiol ; 11: 739496, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34778103

RESUMO

Diutina catenulata (Candida catenulata) is an ascomycete yeast species widely used in environmental and industrial research and capable of causing infections in humans and animals. At present, there are only a few studies on D. catenulata, and further research is required for its more in-depth characterization and analysis. Eleven strains of D. catenulata collected from China Hospital Invasive Fungal Surveillance Net (CHIF-NET) and the CHIF-NET North China Program were identified using matrix-assisted laser desorption ionization-time of flight mass spectrometry and internal transcribed spacer sequencing. The antifungal susceptibility of the Diutina catenulata strains was tested using the Clinical and Laboratory Standards Institute broth microdilution method and Sensititre YeastOne™. Furthermore, ERG11 and FKS1 were sequenced to determine any mutations related to azole and echinocandin resistance in D. catenulata. All isolates exhibited low minimum inhibitory concentration (MIC) values for itraconazole (0.06-0.12 µg/ml), posaconazole (0.06-0.12 µg/ml), amphotericin B (0.25-1 µg/ml), and 5-flucytosine (range, <0.06-0.12 µg/ml), whereas four isolates showed high MICs (≥4 µg/ml) for echinocandins. Strains with high MIC values for azoles showed common ERG11 mutations, namely, F126L/K143R. In addition, L139R mutations may be linked to high MICs of fluconazole. Two amino acid alterations reported to correspond to high MIC values of echinocandin, namely, F621I (F641) and S625L (S645), were found in the hot spot 1 region of FKS1. In addition, one new amino acid alteration, I1348S (I1368), was found outside of the FKS1 hot spot 2 region, and its contribution to echinocandin resistance requires future investigation. Diutina catenulata mainly infects patients with a weak immune system, and the high MIC values for various antifungals exhibited by these isolates may represent a challenge to clinical treatment.


Assuntos
Antifúngicos , Farmacorresistência Fúngica , Antifúngicos/farmacologia , Antifúngicos/uso terapêutico , Candida , Humanos , Testes de Sensibilidade Microbiana , Saccharomycetales
16.
BMC Med Imaging ; 21(1): 166, 2021 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-34753454

RESUMO

BACKGROUND: Segmentation of important structures in temporal bone CT is the basis of image-guided otologic surgery. Manual segmentation of temporal bone CT is time- consuming and laborious. We assessed the feasibility and generalization ability of a proposed deep learning model for automated segmentation of critical structures in temporal bone CT scans. METHODS: Thirty-nine temporal bone CT volumes including 58 ears were divided into normal (n = 20) and abnormal groups (n = 38). Ossicular chain disruption (n = 10), facial nerve covering vestibular window (n = 10), and Mondini dysplasia (n = 18) were included in abnormal group. All facial nerves, auditory ossicles, and labyrinths of the normal group were manually segmented. For the abnormal group, aberrant structures were manually segmented. Temporal bone CT data were imported into the network in unmarked form. The Dice coefficient (DC) and average symmetric surface distance (ASSD) were used to evaluate the accuracy of automatic segmentation. RESULTS: In the normal group, the mean values of DC and ASSD were respectively 0.703, and 0.250 mm for the facial nerve; 0.910, and 0.081 mm for the labyrinth; and 0.855, and 0.107 mm for the ossicles. In the abnormal group, the mean values of DC and ASSD were respectively 0.506, and 1.049 mm for the malformed facial nerve; 0.775, and 0.298 mm for the deformed labyrinth; and 0.698, and 1.385 mm for the aberrant ossicles. CONCLUSIONS: The proposed model has good generalization ability, which highlights the promise of this approach for otologist education, disease diagnosis, and preoperative planning for image-guided otology surgery.

17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(11): 1051-1054, 2021 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-34729741

RESUMO

OBJECTIVE: To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China. METHODS: From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled for retesting. Those who were still positive were subjected to sequencing of the SLC22A5 gene. RESULTS: Twenty-two newborns and 9 mothers were diagnosed with PCD, which gave a prevalence rate of 1/18 208. Sequencing of 18 newborns and 4 mothers have identified 14 types of SLC22A5 gene variants, with the common ones including c.51C>G (10/44, 22.7%), c.1195C>T (9/44, 20.5%) and c.1400C>G (7/44, 15.9%), The c.517delC(p.L173Cfs*3) and c.1031C>T(p.T344I) were unreported previously and predicted to be pathogenic (PVS1+PM2_supporting+PM3+PP4) and likely pathogenic (PM1+PM2_supporting+PM3+PP3+PP4) based on the American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION: c.51C>G, c.1195C>T and c.1400C>G are the most common variants underlying PCD in Guangxi.


Assuntos
Metaboloma , Espectrometria de Massas em Tandem , Cardiomiopatias , Carnitina/deficiência , China , Humanos , Hiperamonemia , Recém-Nascido , Doenças Musculares , Mutação , Membro 5 da Família 22 de Carreadores de Soluto/genética
18.
Front Genet ; 12: 732211, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34616431

RESUMO

Background: Due to the lack of accurate guidance of biomarkers, the treatment of head and neck squamous cell carcinoma (HNSCC) has not been ideal. Ferroptosis plays an important role in tumor suppression and treatment of patients. However, tumor protein p53 (TP53) mutation may promote tumor progression through ferroptosis. Therefore, it is particularly important to mine prognostic-related differentially expressed ferroptosis-related genes (PR-DE-FRGs) in HNSCC to construct a prognostic model for accurately guiding clinical treatment. Methods: First, the HNSCC data obtained from The Cancer Genome Atlas (TCGA) was used to identify PR-DE-FRGs for screening candidate genes to construct a prognostic model. We not only used a variety of methods to verify the accuracy of the model for predicting prognosis but also explored the role of ferroptosis in the development of HNSCC from the perspective of the immune microenvironment and mutation. Finally, we explored the correlation between the prognostic model and clinical treatment and drew a high-precision nomogram to predict the prognosis. Results: Seventeen of the 29 PR-DE-FRGs were selected to construct a prognostic model with good predictive performance. Patients in the low-risk group were found to have a greater number of CD8 + T cells, follicular helper T cells, regulatory T cells, mast cells, T-cell costimulations, and type II interferon responses. A higher tumor mutation burden (TMB) was observed in the low-risk group and was associated with a better prognosis. A higher risk score was found in the TP53 mutation group and was associated with a worse prognosis. The risk score is closely related to the expression of immune checkpoint inhibitors (ICIs)-related genes such as PD-L1 and the IC50 of six chemotherapeutic drugs. The nomogram we constructed performs well in predicting prognosis. Conclusion: Ferroptosis may participate in the progression of HNSCC through the immune microenvironment and TP53 mutation. The model we built can be used as an effective predictor of immunotherapy and chemotherapy effects and prognosis of HNSCC patients.

20.
Nat Chem ; 13(11): 1093-1100, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34635816

RESUMO

Chiral Brønsted acid-catalysed asymmetric synthesis has received tremendous interest over the past decades, and numerous efficient synthetic methods have been developed based on this approach. However, the use of chiral Brønsted acids in these reactions is mostly limited to the activation of imine and carbonyl moieties, and the direct activation of carbon-carbon triple bonds has so far not been invoked. Here we show that chiral Brønsted acids enable the catalytic asymmetric dearomatization reactions of naphthol-, phenol- and pyrrole-ynamides by the direct activation of alkynes. This method leads to the practical and atom-economic construction of various valuable spirocyclic enones and 2H-pyrroles that bear a chiral quaternary carbon stereocentre in generally good-to-excellent yields with excellent chemo-, regio- and enantioselectivities. The activation mode of chiral Brønsted acid catalysis revealed in this study is expected to be of broad utility in catalytic asymmetric reactions that involve ynamides and the related heteroatom-substituted alkynes.

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