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1.
Prenat Diagn ; 44(1): 81-87, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38148006

RESUMEN

To report two novel TTN variants associated with fetal recessive titinopathy, thereby broadening the range of TTN variants that can lead to titinopathy. Clinical information on the fetus and parents was gathered, and genomic DNAs were extracted from the fetal tissue and family members' peripheral blood samples. Exome sequencing on fetal DNA was performed and following bioinformatics analysis, the suspected pathogenic variants were confirmed through Sanger sequencing. Prenatal ultrasound performed at 29 weeks of gestation revealed hydrops fetalis, decreased fetal movements, multiple joint contractures and polyhydramnios. Intrauterine fetal death was noted in the third trimester. Exome sequencing revealed compound heterozygous variants in the TTN gene: a paternally inherited allele c.101227C>T (p.Arg33743Ter) and a maternally inherited c.104254C>T (p.Gln34752Ter) allele. These variants have not been previously reported and are evaluated to be likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. We report a fetus with hydrops fetalis and arthrogryposis multiplex congenita associated with a compound heterozygote in the TTN gene. Our report broadens the clinical and genetic spectrum associated with the TTN-related conditions.


Asunto(s)
Artrogriposis , Hidropesía Fetal , Embarazo , Femenino , Humanos , Hidropesía Fetal/diagnóstico por imagen , Hidropesía Fetal/genética , Exones , Artrogriposis/diagnóstico por imagen , Artrogriposis/genética , Tercer Trimestre del Embarazo , Feto/diagnóstico por imagen , Conectina/genética
2.
World J Gastroenterol ; 26(47): 7513-7527, 2020 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-33384551

RESUMEN

BACKGROUND: Liver fibrosis progressing to liver cirrhosis and hepatic carcinoma is very common and causes more than one million deaths annually. Fibrosis develops from recurrent liver injury but the molecular mechanisms are not fully understood. Recently, the TLR4-MyD88 signaling pathway has been reported to contribute to fibrosis. Extracellular histones are ligands of TLR4 but their roles in liver fibrosis have not been investigated. AIM: To investigate the roles and potential mechanisms of extracellular histones in liver fibrosis. METHODS: In vitro, LX2 human hepatic stellate cells (HSCs) were treated with histones in the presence or absence of non-anticoagulant heparin (NAHP) for neutralizing histones or TLR4-blocking antibody. The resultant cellular expression of collagen I was detected using western blotting and immunofluorescent staining. In vivo, the CCl4-induced liver fibrosis model was generated in male 6-week-old ICR mice and in TLR4 or MyD88 knockout and parental mice. Circulating histones were detected and the effect of NAHP was evaluated. RESULTS: Extracellular histones strongly stimulated LX2 cells to produce collagen I. Histone-enhanced collagen expression was significantly reduced by NAHP and TLR4-blocking antibody. In CCl4-treated wild type mice, circulating histones were dramatically increased and maintained high levels during the duration of fibrosis-induction. Injection of NAHP not only reduced alanine aminotransferase and liver injury scores, but also significantly reduced fibrogenesis. Since the TLR4-blocking antibody reduced histone-enhanced collagen I production in HSC, the CCl4 model with TLR4 and MyD88 knockout mice was used to demonstrate the roles of the TLR4-MyD88 signaling pathway in CCl4-induced liver fibrosis. The levels of liver fibrosis were indeed significantly reduced in knockout mice compared to wild type parental mice. CONCLUSION: Extracellular histones potentially enhance fibrogenesis via the TLR4-MyD88 signaling pathway and NAHP has therapeutic potential by detoxifying extracellular histones.


Asunto(s)
Histonas , Receptor Toll-Like 4 , Animales , Tetracloruro de Carbono/toxicidad , Células Estrelladas Hepáticas/metabolismo , Hígado/patología , Cirrosis Hepática/inducido químicamente , Cirrosis Hepática/patología , Masculino , Ratones , Ratones Endogámicos ICR , Factor 88 de Diferenciación Mieloide/metabolismo , Transducción de Señal , Receptor Toll-Like 4/metabolismo
3.
Biosens Bioelectron ; 26(8): 3398-404, 2011 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-21315574

RESUMEN

The rapid detection of Bacillus anthracis, the causative agent of anthrax disease, has gained much attention since the anthrax spore bioterrorism attacks in the United States in 2001. In this work, a DNA probe functionalized quartz crystal microbalance (QCM) biosensor was developed to detect B. anthracis based on the recognition of its specific DNA sequences, i.e., the 168 bp fragment of the Ba813 gene in chromosomes and the 340 bp fragment of the pag gene in plasmid pXO1. A thiol DNA probe was immobilized onto the QCM gold surface through self-assembly via Au-S bond formation to hybridize with the target ss-DNA sequence obtained by asymmetric PCR. Hybridization between the target DNA and the DNA probe resulted in an increase in mass and a decrease in the resonance frequency of the QCM biosensor. Moreover, to amplify the signal, a thiol-DNA fragment complementary to the other end of the target DNA was functionalized with gold nanoparticles. The results indicate that the DNA probe functionalized QCM biosensor could specifically recognize the target DNA fragment of B. anthracis from that of its closest species, such as Bacillus thuringiensis, and that the limit of detection (LOD) reached 3.5 × 10(2)CFU/ml of B. anthracis vegetative cells just after asymmetric PCR amplification, but without culture enrichment. The DNA probe functionalized QCM biosensor demonstrated stable, pollution-free, real-time sensing, and could find application in the rapid detection of B. anthracis.


Asunto(s)
Bacillus anthracis/aislamiento & purificación , Técnicas Biosensibles/métodos , Sondas de ADN , Oro/química , Nanopartículas del Metal/química , Tecnicas de Microbalanza del Cristal de Cuarzo/métodos , Bacillus anthracis/genética , Límite de Detección , Plásmidos
4.
J Phys Chem A ; 111(22): 4786-91, 2007 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-17497837

RESUMEN

The kinetics of absorption, desorption, and degradation of sulfur mustard (HD) in alkyd coating was experimentally studied, and a one-dimension mass transfer model for the transportation of HD molecule in alkyd coating was established on the experimental data. The obtained results indicated that the persistence of HD molecule could be greatly increased due to the absorption of HD droplets by alkyd coating, and there still occurred the desorption of HD as vapor from coating for more than 3 days even after decontamination of HD droplets onto coating. It was also experimentally shown that the majority of HD both absorbed and desorbed was accomplished at an early stage, less than 10 h, and HD molecule was able to be degraded within the alkyd coating probably through the reactions of hydrolysis and elimination. The diffusion coefficient and degradation rate constant of HD in alkyd coating were determined to be practically around 10(-9) cm2/s and 2.4 x 10(-5) min(-1), respectively.


Asunto(s)
Sustancias para la Guerra Química/química , Gas Mostaza/química , Pintura , Adsorción , Descontaminación/métodos , Cinética , Propiedades de Superficie , Temperatura , Factores de Tiempo
5.
J Hazard Mater ; 128(2-3): 158-63, 2006 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-16157448

RESUMEN

The gas-phase photolytic and photocatalytic reactions of several aromatics and chlorohydrocarbons were investigated. The experimental results revealed that chlorohydrocarbons like trichloroethylene, dichloromethane and chloroform could be degraded through either photolysis or photocatalysis under irradiation of germicidal lamp, and the elimination rate of chlorohydrocarbons through photolysis was quicker than that through photocatalysis. UV light from a germicidal lamp could directly lead to degradation of toluene but could hardly act on benzene. The photodegradation rate for these volatile organic compounds (VOCs) through photolysis followed an order: trichloroethylene>chloroform>dichloromethane>toluene>benzene>carbon tetrachloride, and through photocatalysis followed: trichloroethylene>chloroform>toluene>dichloromethane>benzene>carbon tetrachloride. Besides, a series of modified TiO2 photocatalysts were prepared by depositing noble metal, doping with transition metal ion, recombining with metal oxides and modifying with super strong acid. Activity of these catalysts was examined upon photocatalytic degradation of benzene as a typical compound that was hard to be degraded. It indicated that these modification methods could promote the activity of TiO2 catalyst to different extent. The apparent zero-order reaction rate constant for degrading benzene over SnO2/TiO2 catalyst had the highest value, which was nearly three times as that over P25 TiO2. But it simultaneously had the lowest rate for mineralizing the objective compound. In spite that Fe3+/TiO2 catalyst behaved slightly less active than SnO2/TiO2 for degradation of benzene, the mineralization rate over Fe3+/TiO2 was the highest one among the prepared catalysts.


Asunto(s)
Contaminantes Atmosféricos/química , Contaminación del Aire/prevención & control , Hidrocarburos Aromáticos/química , Hidrocarburos Clorados/química , Benceno/química , Catálisis , Fotoquímica
6.
Environ Sci Technol ; 39(22): 8742-6, 2005 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-16323771

RESUMEN

The photoassisted reaction of sulfur mustard (HD) in both the vapor and droplet states under UV light irradiation was investigated. It was found that HD molecules in either the gas or the condensed phase could be easily converted into other chemicals under the irradiation of a germicidal lamp. The products detected upon reaction suggested that the photoassisted reaction of HD molecules in the gas phase produced a kind of nontoxic heavy polymer, and this method seemed to be applicable for decontamination of air. Nevertheless, the photoassisted reaction of HD droplets would produce a series of products containing -SCH2CH2Cl or -OCH2CH2CI groups, some of which were proven to be even more toxic than HD. Therefore, it was not an effective method forthe decontamination of HD droplets. The obtained experimental results would indicate that two possible pathways might be involved in the destruction of HD molecules: (1) HD molecules may undergo a photochemical reaction upon absorbing photons of sufficient energy, which leads to cleavage the C-S bond in HD molecules at the primary step, or (2) HD molecules could be oxidized by the photogenerated ozone.


Asunto(s)
Descontaminación/métodos , Gas Mostaza/efectos de la radiación , Rayos Ultravioleta
7.
J Phys Chem A ; 109(31): 6912-8, 2005 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-16834048

RESUMEN

A photoassisted reaction of O-ethyl S-[2-(diisopropylamino) ethyl] methylphosphonothioate (VX) droplets in air was carried out. The experimental results indicated that VX droplets could be easily and chemically transformed into other compounds under irradiation of a germicidal lamp over sufficient time. Quantum chemical calculation results demonstrated that UV light less than 278 nm wavelength could possibly initiate photoreaction of VX and that both P-S and P=O bonds in the VX molecule were lengthened. The identification of reaction products by gas and liquid chromatography mass spectroscopy and NMR revealed that the VX molecule in air under UV light irradiation could undergo isomerization of S-esters to O-esters, cleavage of P-S, S-C, and C-N bonds, and ozonation of tertiary amines.

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