9 research outputs found
A case of refractory polymyositis treated by rituximab in a 79 years old woman
No full textinfo:eu-repo/semantics/publishe
Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG.
No full textA naturally occurring mutation in the ectodomain of the TSH receptor (TSHr), K183R, has been described recently in a familial case of gestational hyperthyroidism. Hyperthyroidism was explained by the widening of the specificity of the mutant receptor toward human CG (hCG). In the present study, we attempted to understand in molecular terms the structure-phenotype relationships of this mutant in light of the available structural model of TSHr ectodomain established on the template of the atomic structure of the porcine ribonuclease inhibitor. To this aim, we studied by site-directed mutagenesis and functional assays in transfected COS cells the effects of substituting amino acids with different physicochemical properties for lysine 183. Unexpectedly, all TSHr mutants displayed widening of their specificity toward hCG. Molecular dynamics simulations suggested that the gain of function would be secondary to the release of a nearby glutamate residue (E157) from a salt bridge with K183. This hypothesis was supported by further site-directed mutagenesis experiments showing that the presence of an acidic residue in position 157, or in its vicinity, was required to observe the increase in sensitivity to hCG (an acidic residue in position 183 can partially fulfill the role of a free acidic residue in position 157 when tested on the background of a E157A mutant). Our results suggest also that additional natural mutations (especially K183M, N, or Q) in position 183 of TSHr are expected to be found in gestational hyperthyroidism.Journal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe
Stéroïdes intra-vitréens et intraveineux dans un cas de syndrome d'Idiopathic Retinitis, Vasculitis and Neuroretinitis (IRVAN)
No full textSCOPUS: le.jinfo:eu-repo/semantics/publishe
Central retinal artery occlusion and susac syndrome: A case report
No full textBackground: Susac syndrome is a rare disease attributed to microangiopathy involving the arterioles of the brain, retina, and cochlea. Understanding the pathogenesis is incomplete, but an immune-mediated process remains the leading hypothesis. Methods: Report of a single case of a previously healthy 22-year-old female patient showing the complete clinical triad. Results: Diagnosis of Susac syndrome in this patient was first questioned due to the atypical initial ophthalmologic presentation with central retinal artery occlusion. Multiple relapses occurred in the fellow eye during follow-up, showing the typical branch retinal artery occlusions, allowing definite diagnosis. Conclusion: Susac syndrome should be considered in the differential diagnosis when facing (young) patients with central retinal artery occlusion, especially in the presence of unexplained encephalopathy and/or sensorineural hearing loss. © 2014 by Ophthalmic Communications Society, Inc.SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Ascite associée à un syndrome de Sézary: Cas clinique et revue de la littérature
No full textThis case report describes the evolution of a mycosis fungoides into a Sézary syndrome. The originality of the case consists in the appearance of ascitis with Sézary cells during the leukemic phase. It is the second report of a such case. Mycosis fungoides and its leukemic variant, the Sézary syndrome, are primary cutaneous T-cell lymphomas. Their incidence is low. The treatments are topical in the early stages and systemic during the advanced stages. New immunomodulating treatments are in development. The existing therapeutic agents unfortunately do not improve the prognosis of the disease today.SCOPUS: re.jinfo:eu-repo/semantics/publishe
An atypical case of Whipple's disease: Case report and review of the literature
No full textSCOPUS: ar.jinfo:eu-repo/semantics/publishe
