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1.
Jean-Fran ois Marini Fran oise Pons Jocelyne Leger Nathalie Loffreda Monique Anoal Martine Chevallay Michel Fardeau Jean J. Leger 《Neuromuscular disorders : NMD》1991,1(6):397-409
The expression of MHC isoforms in the skeletal muscles of nine patients with Duchenne muscular dystrophy (DMD) (from 2.5 to 15 yr of age) and three DMD carriers was studied using different specific anti-MHC MAbs. We also analyzed muscle fiber size and fiber reactivity with acridine orange and/or with a surface antigen marker. One-quarter of all fibers of DMD patients, or less with age, were of normal size and contained only adult slow MHC. Half of the muscle fibers contained adult and developmental MHCs. Only half of these fibers were representative of an active regenerative process. MHC co-expression also altered the proportion of normal fast or slow fibers. Adult fast MHCs were expressed as unique MHC only in small and very small fibers in the oldest DMD patients. In DMD carrier muscles, the greatest alterations in MHC expression were observed in patients with the most reduced dystrophin expression. However, MHC changes in dystrophin-positive fibers were similar to those observed in dystrophin-free fibers. In conclusion, disruptions or delays in the switching of all genes coding for adult fast and slow MHC and developmental MHC coincided with dystrophin deletion and with perturbations in its expression. 相似文献
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3.
Saulot V Vittecoq O Salle V Drouot L Legoedec J Le Loët X Godin M Ducroix JP Ménard JF Tron F Gilbert D 《Journal of autoimmunity》2002,19(1-2):55-61
To identify new autoantibody populations in patients with rheumatic diseases, a cDNA expression library was immunoscreened with a rheumatoid arthritis (RA) patient's serum which contains autoantibodies binding to uncharacterized polypeptides by Western-blotting. One clone encoding the amino-terminal region (Nt) [domain L and half of domain I] of human calpastatin was selected. Different fragments of the selected cDNA were prepared and the corresponding recombinant polypeptides were produced by in vitro translation and analysed by Western blotting. Most RA sera bound to recombinant amino-terminal region and domain I but not to domain L. This prompted us to use a recombinant polypeptide corresponding to the domain I of calpastatin as the antigen in a solid-phase ELISA to test sera from patients with various systemic rheumatic diseases and healthy controls.Anti-calpastatin domain I antibodies (ACAST-DI Ab), were detected by ELISA in RA, systemic lupus erythematosus (SLE), Sj?gren's syndrome and control sera at respective frequencies of 10, 9, 0 and 1%. These Ab did not have prognostic value in early RA; high levels were significantly associated with vasculitis in SLE. Antibodies reacting with the calpastatin amino-terminal region are produced during systemic rheumatic diseases and are predominantly directed against domain I. High levels of these Ab may constitute a marker of vasculitis in SLE. 相似文献
4.
Hypermedia data browsing is a mean for improving information access. However, the overload and the heterogeneity of medical information, as well as the multitude of possible navigational paths, turn the consultation of data into a difficult task. We present in this paper a solution for the development of adaptive user interfaces in a hypermedia data browsing environment. It is based on the capitalization of the users knowledge in the decision-making process, expressed in terms of navigational paths and of data presentation modes that are customized to the user's preferences and practice. This capitalization offers the user a way to automatically store and reuse the experience accumulated in browsing through patient records. We illustrate our approach with the implementation of HEMA, a clinical workstation prototype that we have specialized for the cardiology domain. 相似文献
5.
Viollet L Zarhrate M Maystadt I Estournet-Mathiaut B Barois A Desguerre I Mayer M Chabrol B LeHeup B Cusin V Billette De Villemeur T Bonneau D Saugier-Veber P Touzery-De Villepin A Delaubier A Kaplan J Jeanpierre M Feingold J Munnich A 《European journal of human genetics : EJHG》2004,12(6):483-488
Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations. 相似文献
6.
Endothelins, a family of potent vasoconstrictor peptides initially characterized in peripheral tissues, have also been reported to be synthesized in the brain. In this structure several cell types, including astrocytes, endothelial cells and certain neurons, are potential targets for these peptides. In astrocytes, endothelins induce changes in the concentration of several second messengers (calcium, diacylglycerol, arachidonic acid, cAMP) known to be involved in the regulation of gap junction channels. Using the scrape loading/dye transfer technique we have observed that two isoforms of endothelin, endothelin-1 and endothelin-3, strongly inhibit the extent of dye-coupling between confluent astrocytes, suggesting that gap junction permeability was reduced. This inhibitory effect on dye coupling was reproduced by the snake venom sarafotoxin. When used at 10−7 M, these three compounds had inhibitory effects on gap junction channels which were comparable to those induced by the well known uncoupling agents octanol and halothane. In the absence of extracellular calcium, the effects of endothelins were largely prevented, suggesting that second messengers linked to the activation of phospholipases C and/or A2 , which both are dependent on external calcium, could be involved in the uncoupling mechanism. 相似文献
7.
Delumeau JC Tencé M Marin P Cordier J Glowinski J Prémont J 《The European journal of neuroscience》1991,3(6):539-550
Adenosine has a broad array of actions on neurons but astrocytes also possess adenosine receptors. We have previously shown that adenosine, by acting on astrocytes in the striatum, can modulate neuronal responses mediated by receptors coupled to phospholipase C through an astrocyto - neuronal interaction. In addition, adenosine was found to potentiate the alpha1-adrenergic production of inositol phosphates in astrocytes. The mechanism involved in this potentiation was further investigated by examining the effects of adenosine and alpha1-adrenergic receptor agonists on cytosolic Ca2+ in cultured striatal astrocytes from the embryonic mouse in primary culture. When used alone, methoxamine, a selective agonist of alpha-adrenergic receptors or 2-chloroadenosine, a stable analogue of adenosine, induced a transitory increase in cytosolic Ca2+, but their combined addition led to a sustained increase in cytosolic Ca2+, which seems to be due to a Ca2+ influx, because it was not observed in the absence of external Ca2+. Voltage independent Ca2+ channels contribute to this process and different blockers of voltage-operated calcium channels, such as dihydropyridines, phenylalkylamines, La3+ or Co2+ were ineffective in suppressing the sustained cytosolic Ca2+ elevation. Three observations suggest the implication of arachidonic acid in the observed potentiation: (i) arachidonic acid induced a sustained elevation of cytosolic Ca2+ similar to that evoked by the coapplication of methoxamine and 2-chloroadenosine; (ii) the addition of arachidonic acid during the calcic plateau produced by the combined application of the agonists did not increase further cytosolic Ca2+ levels; (iii) in the presence of methoxamine, 2-chloroadenosine induced a release of arachidonic acid. The stimulation of phospholipase C and the resulting activation of protein kinase C induced by methoxamine seem to be required for the potentiating effect of 2-chloroadenosine on cytosolic Ca2+. In fact, the direct activation of protein kinase C by an exogenous diacylglycerol analogue mimicked the effect of methoxamine because, in this condition, 2-chloroadenosine alone evoked a sustained elevation of cytosolic Ca2+. Therefore, methoxamine, through the successive activation of phospholipase C and protein kinase C, could allow a lipase, probably phospholipase A2, to be stimulated by 2-chloroadenosine. Arachidonic acid has already been shown to trigger the opening of K+ channels and the formation of inositol phosphates in other cell types. Therefore, in striatal astrocytes, 2-chloroadenosine, through an arachidonic acid-mediated hyperpolarization, could increase the Ca2+ driving force and thus improve Ca2+ influx through inositol phosphate-gated channels. This hypothesis is further supported by the suppressing effect of a 50 mM KCI-induced depolarization on the long lasting elevation of cytosolic Ca2+ seen in the combined presence of 2-chloroadenosine and methoxamine. 相似文献
8.
Hysteroscopic examination in a woman with secondary infertility revealed calcified tissue in the uterine cavity. Histopathological examination demonstrated mature bone. Genetic analysis supports its fetal origin. 相似文献
9.
The treatment of elderly diabetic people concerns not only doctors but also paramedical professionals. As these patients represent a heterogeneous group, treatment must be adapted to each person. The frequent occurrence of physical, sensory and cognitive disabilities must be taken into account in order to define the objectives and method of treatment. Therapeutic education must enable the patient or the carers to have a better understanding of the pathology and the therapy in order to avoid the occurrence of complications and accidents. The paramedical guide for the care of elderly diabetic people brings together all the information enabling caregivers to improve their knowledge and their practices. 相似文献
10.
Pericardial puncture is the percutaneous insertion of a needle into the pericardial space to drain a pathological pericardial effusion. The challenge for the operating surgeon is to reach percutaneously a target zone in the vicinity of the mobile heart, in a soft-tissue environment. The surgeon's ability to accomplish this depends on his own mental picture of the effusion. CASPER is a navigation software using an optical localizer which assists the surgeon by enhancing the representation of the effusion and guiding the needle's progress. Using a localized and calibrated echographic probe, the surgeon acquires a set of images in the region of interest. This zone is then manually segmented on each image, a common zone is computed, and the surgeon defines a trajectory for the needle. During the puncture procedure, the surgeon follows the position of the localized needle on a computer monitor. After initial validation on an experimental phantom, a feasibility study was performed using canine and porcine models. The optical localization device was changed from an Optotrak to a Polaris device for easier use in the clinical setting. Prior to clinical application, various tests were performed concerning the mobility of the thoracic cage, the reproducibility of the thoracic position over several apneas, and the stability of anatomic structures relative to the thoracic cage. Finally, a first clinical application was successfully performed using this system. The present paper reports on these last two stages. 相似文献