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1.
Ann Indian Acad Neurol ; 26(6): 980-982, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38229639

RESUMEN

Coenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of seizures. Imaging revealed stroke-like episodes, with other immune and infective evaluations being negative. He was eventually diagnosed to have Primary CoQ10 deficiency secondary to CoQ8A mutation. This account highlights the challenges in diagnosing and managing primary Coenzyme Q10 deficiency, especially when it presents later in life with atypical features such as stroke-like episodes.

2.
Analyst ; 139(3): 633-42, 2014 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-24319772

RESUMEN

This paper describes a method for lifting cyanoacrylate (CNA)-developed latent fingermarks from a glass surface and the detection of five drugs in lifted marks from fingers that had been in contact with the drugs, using Surface Assisted Laser Desorption Ionisation Time of Flight Mass Spectrometry (SALDI-TOF-MS) or Matrix Assisted Laser Desorption Ionisation TOF-MS (MALDI-TOF-MS). Two drugs of abuse (cocaine and methadone) and three therapeutic drugs (aspirin, paracetamol and caffeine) were used as contact residues. Latent fingermarks spiked with the drugs were subjected to CNA fuming followed by dusting with ARRO SupraNano™ MS black magnetic powder (SALDI-TOF-MS) or 2,5-dihydroxybenzoic acid (DHB) (MALDI-TOF-MS). The dusted mark was then exposed to solvent vapour before lifting with a commercial fingerprint lifting tape following established procedures. The presence of the drugs was then confirmed by direct analysis on the tape without further processing using SALDI- or MALDI-TOF-MS. The black magnetic fingerprint powder provided visual enhancement of the CNA-fingermark while no visual enhancement was observed for marks dusted with DHB powder. Similar [M + H](+) peaks for all the drug analytes were observed for both methods along with some sodium and potassium adducts for SALDI-MS and some major fragment ions but the SALDI signals were generally more intense. Simple exposure to acetone vapour of the CNA-developed marks enabled their effective transfer onto the tape which was crucial for subsequent MS detection of the analytes.


Asunto(s)
Métodos Analíticos de la Preparación de la Muestra/métodos , Cianoacrilatos/química , Dermatoglifia , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodos , Detección de Abuso de Sustancias/métodos , Vidrio/química , Solventes/química , Volatilización , Agua/química
3.
J Hazard Mater ; 184(1-3): 855-863, 2010 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-20889257

RESUMEN

Highly ordered nitrogen-doped titanium dioxide (N-doped TiO(2)) nanotube array films with enhanced photocatalytic activity were fabricated by electrochemical anodization, followed by a wet immersion and annealing post-treatment. The morphology, structure and composition of the N-doped TiO(2) nanotube array films were investigated by FESEM, XPS, UV-vis and XRD. The effect of annealing temperature on the morphology, structures, photoelectrochemical property and photo-absorption of the N-doped TiO(2) nanotube array films was investigated. Liquid chromatography and mass spectrometry were applied to the analysis of the intermediates coming from the photocatalytic degradation of MO. The experimental results showed that there were four primary intermediates existing in the photocatalytic reaction. Compared with the pure TiO(2) nanotube array film, the N-doped TiO(2) nanotubes exhibited higher photocatalytic activity in degradating methyl orange into non-toxic inorganic products under both UV and simulated sunlight irradiation.


Asunto(s)
Nanotubos , Nitrógeno/química , Fotoquímica , Titanio/química , Catálisis , Cromatografía Liquida , Espectrometría de Masas , Microscopía Electrónica de Rastreo , Difracción de Rayos X
4.
J Environ Monit ; 9(1): 33-43, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17213940

RESUMEN

We describe the development and validation of a portable system comprising an air sampler coupled to an automated flow injection analysis device. The system is able to monitor airborne concentrations of subtilisin-type enzymes in the workplace atmosphere on a continuous basis. Sampling is in two stages: using a sampling head that is designed to mimic human respiration at approx. 1 m s(-1) at a sampling rate of 600 l min(-1). In the second stage, the captured particles are deposited by impaction from the air stream onto the inner surface of a cyclone that is continuously washed with a jet of buffer solution. Deposited particles are then washed into a reservoir from which samples are taken every 5-6 min and injected automatically into a continuous flow injection analysis system. Proteolytic enzyme in the sample passes through a bioreactor maintained at about 40 degrees C. This contains a cellulose solid phase matrix on which is covalently immobilised Texas Red-labelled gelatin as substrate. The passing enzyme partially digests the substrate releasing fluorophore that is detected down stream in a flow cell coupled to a fluorimeter. The system is calibrated using enzyme standards and the intensity of the resulting peaks from the ex-air samples is converted to airborne concentrations using a mathematical model programmed into a PC. The system has a limit of detection of 4.8 ng m(-3) and a dynamic range of 5-60 ng m(-3). The within assay precision (RSD) is 6.3-9.6% over this range. The within batch precision is 20.3% at 20 ng m(-3) and the corresponding between batch value is 19.5%. The system has been run for periods up to 8 h in the laboratory and for up to 4 h at a factory site and the values obtained compared with time-averaged values obtained from a conventional Galley sampler and in-house analysis when reasonable agreement of the results was observed. The stability of the system over 21 days of continuous use with standards injected periodically was studied. Linearity was observed for all the standard plots throughout. At the end of 21 days, after a total exposure equivalent to 2395 ng ml(-1) of Savinase, the signal due to the 5.0 ng ml(-1) standard was still easily detectable.


Asunto(s)
Contaminantes Ocupacionales del Aire/análisis , Contaminación del Aire Interior/análisis , Monitoreo del Ambiente/métodos , Subtilisina/análisis , Humanos , Exposición Profesional/análisis
5.
Mol Biotechnol ; 22(1): 25-32, 2002 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-12353912

RESUMEN

Retroviral cDNA expression libraries allow the efficient introduction of complex cDNA libraries into virtually any mitotic cell type for screening based on gene function. The cDNA copy number per cell can be easily controlled by adjusting the multiplicity of infection, thus cell populations may be generated in which >90% of infected cells contain one to three cDNAs. We describe the isolation of two known oncogenes and one cell-surface receptor from a human Burkitt's lymphoma (Daudi) cDNA library inserted into the high-titer retroviral vector pFB.


Asunto(s)
Proteínas de Ciclo Celular , Clonación Molecular/métodos , ADN Complementario/metabolismo , Perfilación de la Expresión Génica/métodos , Biblioteca de Genes , Vectores Genéticos , Retroviridae/genética , Retroviridae/metabolismo , Células 3T3/metabolismo , Animales , Secuencia de Bases , Linfoma de Burkitt/genética , Linfoma de Burkitt/metabolismo , Regulación de la Expresión Génica , Humanos , Ratones , Datos de Secuencia Molecular , Oncogenes/genética , Proteínas Proto-Oncogénicas/análisis , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas/metabolismo , Proteínas Proto-Oncogénicas c-raf/análisis , Proteínas Proto-Oncogénicas c-raf/genética , Proteínas Proto-Oncogénicas c-raf/metabolismo , Proteínas Proto-Oncogénicas c-vav , Receptores de Interleucina-4/genética , Receptores de Interleucina-4/aislamiento & purificación , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Mapeo Restrictivo
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