Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 13 de 13
Filtrar
1.
Materials (Basel) ; 17(4)2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38399097

RESUMO

There is limited research on the fracture toughness of carbon-fiber-reinforced polymer (CFRP) materials under accelerated UV aging conditions. In this study, the primary focus was on investigating the influence of varying durations of ultraviolet (UV) irradiation at different temperatures on the Mode I, Mode II, and mixed-mode fracture toughness of CFRP laminates. The results indicate that with increasing UV aging duration, the material's Mode I fracture toughness increases, while Mode II fracture toughness significantly decreases. The mixed-mode fracture toughness exhibits an initial increase followed by a subsequent decrease. Furthermore, as the aging temperature increases, the change in the fracture toughness of the material is more obvious and the rate of change is faster. In addition, the crack expansion of the composite layer of crack-containing Type IV hydrogen storage cylinders was analyzed based on the extended finite element method in conjunction with the performance data after UV aging. The results reveal that cracks in the aged composite material winding layers become more sensitive, with lower initiation loads and longer crack propagation lengths under the same load. UV aging diminishes the overall load-bearing capacity and crack resistance of the hydrogen storage cylinder, posing increased safety risks during its operational service.

2.
Glob Med Genet ; 11(1): 25-28, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38229969

RESUMO

Background Aminoacyl-tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 ( IARS2 ) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease which involves several patients presenting broad clinical phenotypes. These clinical phenotypes include West syndrome, Leigh syndrome, and Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome. Only 29 cases have been reported worldwide. The patient manifested recurrent convulsions, and specific clinical manifestations included electrolyte disorders and recurrent infections. Methods Whole-exome sequencing was performed on the child with West syndrome. Three-dimensional structure reconstruction and thermodynamic stability prediction were performed to further analyze the relationship between variation and phenotype. Conclusion This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2 -associated disease and reduce misdiagnosis. Result In this report, a 13-month-old girl was diagnosed with West syndrome and Leigh syndrome for 7 months. Compound heterozygous variants in the IARS2 gene (NM_018060.4), c.2450G>A (Arg817His) and copy number variation (NC_000001. 11: g. (220267549_220284289) del), were detected by WES. This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2-associated disease and reduce misdiagnosis.

3.
Biochem Genet ; 2023 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-37952039

RESUMO

SLC4A4 variants are the etiologies of inherited proximal renal tubular acidosis (pRTA), which results in metabolic acidosis, hypokalemia, glaucoma, band keratopathy, and cataract. This study aims to characterize SLC4A4 variant and uniparental isodisomy of chromosome 4 in a patient, and analyse the functional characterization of SLC4A4 variants. This study analyzed renal tubular acidosis disease genes by whole exome sequencing (WES). H3M2 algorithm was used to analyze the run of homozygosity region in chromosomal regions in trio-WES data. The pathogenicity analysis of variants was performed using bioinformatics tools. Additionally, protein stability was analyzed by cycloheximide chase assay. Whole-cell patch clamping was used to examine the electrophysiological properties of NBCe1-A. A novel homozygous SLC4A4 variant was identified in the patient: a missense variant c.496C > T, p. Arg166Trp (NM_003759.4). But the father was heterozygous variant carrier, and the mother did not detect the variant. The H3M2 and UPDio algorithm revealed paternal uniparental isodisomy on chromosome 4 in the patient. SIFT, Poly Phen-2, FATHMM and Mutant Taster showed that the variant might be pathogenic. The tertiary structure analysis showed that the variant could cause structural damage to NBCe1 protein. Foldx results showed that the protein stability of the variant was slightly reduced. Cycloheximide chase assay demonstrated that the variant affects protein stability. The result of electrophysiological studies showed that the variant altered Na+/HCO3- cotransport activity of protein. In conclusion, the study is the first to report a pRTA patient with Arg166Trp variant with UPiD (4) pat and analyze the function of Arg166Trp variant.

4.
Am J Med Genet A ; 191(11): 2775-2782, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37507849

RESUMO

Mutations in the CNOT1 gene lead to an incurable rare neurological disorder mainly manifested as a clinical spectrum of intellectual disability, developmental delay, seizures, and behavioral problems. In this study, we investigated a classical splice site variant of CNOT1 (c.1343+1G>T) associated with neurodevelopmental disorders, which was a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. To link CNOT1 dysfunction with the neurodevelopmental phenotype observed in a patient, in vitro minigene assay was used to verify the effect of CNOT1 gene splice site variant c.1343+1G>T on mRNA splicing. We also explored the impact of transient transfection introducing modified U1 snRNA on correcting the splicing variant. Through minigene expression in mammalian cells, we demonstrated that the variant induced complete exon 12 skipping, which explained the patient's clinical condition and provided additional genetic diagnosis evidence for the clinical significance of the variant. Moreover, we confirmed that the aberrant splice pattern could be partially corrected by the modified U1 snRNA at the mRNA level, which provided strong evidence for the therapeutic potential of modified U1 snRNA in neutralizing the hazardous effect of incorrect splicing patterns.


Assuntos
Transtornos do Neurodesenvolvimento , Splicing de RNA , Animais , Humanos , Virulência , Splicing de RNA/genética , RNA Nuclear Pequeno/genética , RNA , Mutação , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transtornos do Neurodesenvolvimento/genética , Sítios de Splice de RNA/genética , Mamíferos/genética , Mamíferos/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
5.
Materials (Basel) ; 15(8)2022 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-35454614

RESUMO

The UV durability of carbon fiber composites has been a concern. In this work, UV irradiation on carbon fiber-reinforced polymer (CFRP) materials was performed using an artificial accelerated UV aging chamber to investigate the effect of UV exposure on carbon fiber composites. UV aging caused some of the macromolecular chains on the surface resin to break, resulting in the loss of small molecules and loss of mass. After 80 days of UV irradiation exposure, a significant decline in the macroscopic mechanical properties occurred in the longitudinal direction, with the largest decrease of 23% in longitudinal compressive strength and a decreasing trend in the transverse mechanical properties at the later stage of aging. The microscopic mechanical properties of the CFRP specimens were characterized using nanoindentation, and it was found that UV aging had an embrittlement effect on the matrix, and its hardness/modulus values were higher than the initial values with UV exposure. The fibers were less affected by UV irradiation.

6.
Angew Chem Int Ed Engl ; 61(21): e202201102, 2022 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-35274435

RESUMO

Carbon-fluorine bond activation of the trifluoromethyl group represents an important approach to fluorine-containing molecules. While selective defluorinative functionalization reactions of CF3 -containing substrates have been achieved by invoking difluorocarbocation, difluorocarboradical, or difluoroorganometallic species as the key intermediates, the transformations via fluorocarbanion mechanism only achieved limited success. Furthermore, the enantioselective defluorinative transformation of the CF3 group remained a formidable challenge. Here we report a defluorinative functionalization reaction of 4-trifluoromethylpyridines involving difluoro(pyrid-4-yl)methyl anion as the key intermediate, which was developed based upon our previous studies on the N-boryl pyridyl anion chemistry. In particular, asymmetric defluoroallylation of 4-trifluoromethylpyridines and -pyrimidines could be achieved by using Ir-catalysis to forge a difluoroalkyl-substituted chiral center.

7.
Database (Oxford) ; 20202020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32705130

RESUMO

With the application and development of high-throughput sequencing technology in life and health sciences, massive multi-omics data brings the problem of efficient management and utilization. Database development and biocuration are the prerequisites for the reuse of these big data. Here, relying on China National GeneBank (CNGB), we present CNGB Sequence Archive (CNSA) for archiving omics data, including raw sequencing data and its further analyzed results which are organized into six objects, namely Project, Sample, Experiment, Run, Assembly and Variation at present. Moreover, CNSA has created a correlation model of living samples, sample information and analytical data on some projects. Both living samples and analytical data are directly correlated with the sample information. From either one, information or data of the other two can be obtained, so that all data can be traced throughout the life cycle from the living sample to the sample information to the analytical data. Complying with the data standards commonly used in the life sciences, CNSA is committed to building a comprehensive and curated data repository for storing, managing and sharing of omics data. We will continue to improve the data standards and provide free access to open-data resources for worldwide scientific communities to support academic research and the bio-industry. Database URL: https://db.cngb.org/cnsa/.


Assuntos
Curadoria de Dados , Sistemas de Gerenciamento de Base de Dados , Bases de Dados Genéticas , Big Data , Biologia Computacional
8.
Chem Sci ; 11(3): 742-747, 2019 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-34123047

RESUMO

The first inverse hydroboration of pyridine with a diboron(4) compound and a proton source has been realized under simple basic and catalyst-free conditions. This process consists of a formal boryl anion addition to pyridine, which produces an N-boryl pyridyl anion complex, and the subsequent protonation of the anion complex. This process enables a simple and efficient method for the synthesis of multi-substituted N-H 1,4-dihydropyridine (1,4-DHP) derivatives that are difficult to prepare using established methods. Furthermore, this method allows for facile preparation of 4-deuterated 1,4-DHPs from an easily accessible deuterium ion source. This inverse hydroboration reaction represents a new mode for pyridine functionalization.

9.
PeerJ ; 6: e4997, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29963334

RESUMO

The Beal's-eyed turtle (Sacalia bealei) is endemic to southeastern China and endangered due to poaching and habitat loss. Knowledge of S. bealei ecology is lacking and this study provides baseline information of its reproduction in a natural environment. We studied the reproductive ecology of S. bealei using X-ray, spool-and-line tracking, and direct observation. Six nesting females were successfully tracked and their nesting behaviors are documented in detail. Females produced a mean clutch size of 2.2 eggs (range 1-3). The hard-shelled eggs were ellipsoidal with a mean length of 45.50 mm, a mean width of 23.20 mm, and mean weight of 14.8 g. The relative clutch mass was 9.47%, while the relative egg mass was 4.60%. The mean incubation period was 94.7 days with a mean nest temperature of 25.08 °C. Hatchlings had a mean weight of 9.7 g, carapace length of 40.1 mm, carapace width of 33.3 mm, carapace height of 17.4 mm, plastron length of 31.6 mm, and plastron width of 25.4 mm. The results of this study provide important information to inform conservation plans and ex-situ breeding for this endangered species.

10.
Org Biomol Chem ; 15(34): 7157-7164, 2017 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-28805833

RESUMO

A practical and concise protocol for the efficient synthesis of pyrrolo[1,2-a]quinoxalines from readily available α-amino acids and 2-(1H-pyrrol-1-yl)anilines under transition metal-free conditions has been established. This protocol, which includes the formation of new C-C and C-N bonds, features a wide substrate scope with a broad range of functional group tolerance.


Assuntos
Aminoácidos/química , Pirróis/química , Quinoxalinas/química , Quinoxalinas/síntese química , Técnicas de Química Sintética
11.
J Biomed Mater Res B Appl Biomater ; 100(8): 2239-50, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22887723

RESUMO

As-cast Ti-xGe (x = 2, 5, 10, 20 wt %) binary alloys were produced in this work, and various experiments were carried out to investigate the microstructure, mechanical properties, in vitro electrochemical and immersion corrosion behaviors as well as cytotoxicity with as-cast pure Ti as control, aiming to study the feasibility of Ti-xGe alloy system as potential dental materials. The microstructure of Ti-xGe alloys changes from single α-Ti phase to α-Ti + Ti(5)Ge(3) precipitation phase with the increase of Ge content. Mechanical tests show that Ti-5Ge alloy has the best comprehensive mechanical properties. The corrosion behavior of Ti-xGe alloys in artificial saliva with different NaF and lactic acid addition at 37°C indicates that Ti-2Ge and Ti-5Ge alloys show better corrosion resistance to fluorine-containing solution. The cytotoxicity test indicates that Ti-xGe alloy extracts show no obvious reduction of cell viability to L-929 fibroblasts and MG-63 osteosarcoma cells, similar to pure Ti which is generally acknowledged to be biocompatible. Considering all these results, Ti-2Ge and Ti-5Ge alloys possess the optimal comprehensive performance and might be used as potential dental materials.


Assuntos
Ligas Dentárias/química , Germânio/química , Teste de Materiais , Titânio/química , Linhagem Celular Tumoral , Corrosão , Humanos , Ácido Láctico/química , Saliva/química
12.
Nephrol Dial Transplant ; 24(4): 1205-12, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18952699

RESUMO

BACKGROUND: Population-based studies evaluating the prevalence of kidney damage in different communities have been limited in developing countries. We conducted a population-based screening study in the southern Chinese city of Guangzhou that aimed to identify the prevalence and associated risk factors of chronic kidney disease (CKD) in southern Chinese populations. METHODS: We interviewed 6311 residents (>20 years) from six districts of Guangzhou from July 2006 to June 2007 and tested for haematuria, albuminuria and reduced renal function. Associations between age, gender, smoking, diabetes mellitus, hypertension, hyperuricaemia and kidney damage were examined. RESULTS: There were 6311 subjects enrolled in this study. After adjustment for age and gender, the prevalence of albuminuria, haematuria and reduced estimated glomerular filtration rate (eGFR) was 6.6% [95% confidence interval (CI): 5.5-7.6%], 3.8% (95% CI: 3.4%, 4.3%) and 3.2% (95% CI: 2.4%, 3.3%), respectively. Approximately 12.1% (95% CI: 11.3%, 12.9%) of the sample population had at least one indicator of kidney damage. Age, diabetes mellitus, hypertension, central obesity, hyperlipidaemia and use of nephrotoxic medications were independently associated with albuminuria; hyperuricaemia, age, gender, hypertension and use of nephrotoxic medications were independently associated with reduced eGFR, and female gender was independently associated with haematuria. CONCLUSIONS: In the general adult population from southern China, 12.1% has either proteinuria, haematuria and/or reduced eGFR, indicating the presence of kidney damage, with an awareness of only 9.6%. The high prevalence and low awareness of CKD in this population suggest an urgent need for CKD prevention programmes in China.


Assuntos
Nefropatias/epidemiologia , Adulto , China/epidemiologia , Doença Crônica , Estudos Transversais , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
13.
Zhonghua Nei Ke Za Zhi ; 43(8): 572-5, 2004 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-15355659

RESUMO

OBJECTIVE: To investigate the change of macrophage migration inhibitory factor (MIF) mRNA expression in peripheral blood mononuclear cell (PBMC) and serum MIF and its correlation with disease active index in patients with systemic lupus erythematosus (SLE). METHODS: MIF mRNA expression of PBMC and serum MIF in patients with active and inactive SLE was measured by reverse transcriptase-polymerase chain reaction and enzyme-linked immunosorbent assay, respectively. The correlations of serum MIF with SLE disease active index, serum ds-DNA antibody, ANA, C3, C4 and IgG were examined. RESULTS: There was marked increase in MIF mRNA expression of PBMC and serum MIF in patients with SLE than that in normal volunteers (P < 0.01). Level of MIF in patients with active SLE was higher than that with inactive SLE (P < 0.01). There were significant correlation between the blood MIF concentration, MIF mRNA expression and SLE disease active index, ds-DNA antibody, C3, C4 and IgG, but no significant different was observed between the blood MIF and antinuclear antibody. CONCLUSIONS: MIF mRNA expression in PBMC and serum MIF concentration is significantly increased in patients with SLE and correlates with SLE disease activity. Serum MIF levels may be a useful parameter for monitoring disease active in patients with SLE.


Assuntos
Leucócitos Mononucleares/metabolismo , Lúpus Eritematoso Sistêmico/sangue , Fatores Inibidores da Migração de Macrófagos/sangue , Adolescente , Adulto , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Fatores Inibidores da Migração de Macrófagos/genética , Masculino , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA