Search results for "DMD"
showing 10 items of 12 documents
"Table 31" of "Energy dependence of event shapes and of alpha(s) at LEP-2."
1999
Distributions of the Jet Mass Differences (MDIFF**2/EVIS**2) at cm energies 133, 161 and 172 GeV.
"Table 32" of "Energy dependence of event shapes and of alpha(s) at LEP-2."
1999
Distribution of the Jet Mass Differences (MDIFF**2/EVIS**2) at cm energy 183 GeV.
Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay
2014
The presence in the mRNA of premature stop codons (PTCs) results in protein truncation responsible for several inherited (genetic) diseases. A well-known example of these diseases is cystic fibrosis (CF), where approximately 10% (worldwide) of patients have nonsense mutations in the CF transmembrane regulator (CFTR) gene. PTC124 (3-(5-(2-fluorophenyl)-1,2,4-oxadiazol-3-yl)-benzoic acid), also known as Ataluren, is a small molecule that has been suggested to allow PTC readthrough even though its target has yet to be identified. In the lack of a general consensus about its mechanism of action, we experimentally tested the ability of PTC124 to promote the readthrough of premature termination c…
Early alterations of the behavioural structure of mice affected by Duchenne muscular dystrophy and tested in open-field
2020
Present study has been carried out to assess whether early alterations of the behavioural structure may be detected in mice affected by Duchenne muscular dystrophy (DMD). To this purpose, both quantitative and T-pattern analysis (TPA) were used to analyse the behaviour of two groups of male, two months old mice, 18 MDX and 18 normal as control, tested in an open-field apparatus. T-pattern analysis is a multivariate technique able to reveal hidden structural features of behaviour and, in particular, its temporal characteristics. As to quantitative analyses, mean durations evidenced a significant increase of Walking, Modified Climbing and Rearing and a significant reduction of Immobile-Sniffi…
Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy
2021
BackgroundNeuropsychological profile of Indian Duchenne muscular dystrophy (DMD) subjects remains unidentified and needs to be evaluated.MethodsA total of 69 DMD and 66 controls were subjected to detailed intelligence and neuropsychological assessment. The factor indexes were derived from various components of Malin’s Intelligence Scale for Indian Children (MISIC) and Rey Auditory Verbal Learning Test (RAVLT).ResultsPoor verbal and visual memory profiles were demonstrated by DMDs, which include RAVLT-immediate recall (IR) (p = 0.042), RAVLT-delayed recall (DR) (p = 0.009), Rey–Osterrieth complex figure test (RCFT)-IR (p = 0.001), and RCFT-DR (p = 0.001). RAVLT-memory efficiency index demons…
Estudio morfológico proteico y molecular de la HiperCKemia asintomática o paucisintomática
2016
La HiperCKemia asintomática o paucisintomática es un síndrome que consiste en una actividad sérica elevada de la enzima creatin-quinasa (CK) de forma permanente y que puede representar una enfermedad muscular en forma benigna o en estadio preclínico. A menudo son idiopáticas y generan incertidumbre respecto al pronóstico a largo plazo. El objetivo del estudio es analizar una serie de 354 casos que se han estudiado con biopsia muscular en un periodo de 15 años. Pacientes y Métodos: Pacientes remitidos con niveles de CK sérica superiores a 250 UI/L en los que se han descartado causas primarias. Se estudiaron mediante: DBS Pompe, MLPA, EMG, RM, biopsia muscular (histológico y proteico) y análi…
Properties of slow wave activity in duodenal smooth muscle from mice lacking full-length dystrophin
2010
Neiromuskulāro slimību prenatālo un postnatālo diagnostikas metožu izstrāde un optimizācija
2016
Prenatālā diagnostika ir metožu kopums, ar kuru palīdzību nosaka strukturālas un ģenētiskas anomālijas auglī. Bakalaura darba mērķis ir pielāgot un pārbaudīt jau esošās metodes posnatālās un prenatālās diagnostikas mērķiem. Darba izstrādē svarīgākās molekulārās bioloģijas metodes ir STR analīžu veikšana, Sangera sekvenēšana un QR-PCR. Tika analizēti kontroles grupas un pacientu DNS paraugi, noteiktas delēcijas un duplikācijas DMD gēnā, kā arī mātes DNS iespējamā kontaminācija bērna paraugā. Optimizētās metodes ir efektīvas, tomēr tām nepieciešama uzlabošana. Anotācija Prenatālā diagnostika ir metožu kopums, ar kuru palīdzību nosaka strukturālas un ģenētiskas anomālijas auglī. Bakalaura darb…
Dimethyl disulfide and dimethyl trisulfide: so similar yet so different in evoking biological responses in saprophilous flies
2014
Dimethyl disulfide (DMDS) and dimethyl trisulfide (DMTS) are used by saprophilous insects to locate breeding sites (decaying organic matter), and by brood-site deceptive flowers to attract such insects. However, little is known about the relative importance of these two compounds in eliciting electrophysiological and behavioral responses in the insects. Here, we compared the relative attractiveness of DMDS and DMTS to saprophilous flies in field choice experiments and tested whether potential differences in field responses can be explained by differences in electrophysiological antennal responses to these compounds. Field experiments revealed that the attractiveness of a mixture of these co…
In vitro skin penetration of bronidox, bronopol and formaldehyde from cosmetics
2020
The objective was to evaluate the influence of the formulation in the in vitro transdermal absorption through pig ear skin of three preservatives, bronopol, bronidox and formaldehyde as well as the absorption of formaldehyde from bronopol and dimethyloldimethyl hydantoin (DMDM hydantoin). An aqueous solution, an O/W emulsion and a hydrogel were assayed. Bronidox and bronopol absorption depends on the formulation. The O/W emulsion was the system that least promoted absorption of bronidox while the absorption of bronopol was lower from the hydrogel. The aqueous solution provided maximal transdermal absorption of both preservatives. Moreover, the transdermal absorption of formaldehyde released…