Search results for "Marie"
showing 10 items of 99 documents
Pigment variant of neuronal ceroid-lipofuscinosis
1995
A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal s…
Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report.
2021
Background and objectives: The aim of this study was to report a case of a patient with Charcot-Marie-Tooth disease type 2 (CMT2) treated with epigallocatechin gallate (EGCG) for 4 months in order to assess its therapeutic potential in CMT2. Materials and Methods: The study included a brother and a sister who have CMT2. The sister received 800 mg of EGCG for 4 months, while her brother received placebo for the same period of time. Both participants were assessed before and after daily administration by means of anthropometry; analysis of inflammatory and oxidation markers of interleukin-6 (IL-6) and paraoxonase 1 (PON1) in the blood sample; and motor tests: 2-min walk test (2MWT), 10-m walk…
Le Scarabée des hiéroglyphes
2021
Number 2 of the annual gazette of the Association des Amis de Charles Nodier considering different aspects of the life and work of Charles Nodier and, more specifically this number, of his daughter Marie Mennessier-Nodier, from a popular and fun perspective.
Prussian blue@MoS2 layer composites as highly efficient cathodes for sodium- and potassium-ion batteries
2018
Prussian blue (PB) represents a simple, economical, and eco‐friendly system as cathode material for sodium‐ion batteries (SIBs). However, structural problems usually worsen its experimental performance thus motivating the search for alternative synthetic strategies and the formation of composites that compensate these deficiencies. Herein, a straightforward approach for the preparation of PB/MoS2‐based nanocomposites is presented. MoS2 provides a 2D active support for the homogeneous nucleation of porous PB nanocrystals, which feature superior surface areas than those obtained by other methodologies, giving rise to a compact PB shell covering the full flake. The nanocomposite exhibits an ex…
Empowering Translation of New Ideas - A EIT Health ClinMed Summer School Overview
2019
Translational research training is crucial to convert academic research ideas into efficient real-life solutions. In this paper a summer school supported by EIT Health is presented. Its main goal is to integrate clinical knowledge in the development of new medical devices, from ideas to post-market approval, in the clinics. Students were immersed in clinical centres where they had close contacts and engaged discussions with clinicians and patients to identify and assimilate clinical unmet needs. From this immersive stage resulted innovative solutions that were further investigated with the support of plenary lectures and by interaction with experts of the medical field, from clinicians to M…
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of Charcot-Marie-tooth neuropathy
2015
27 páginas, 9 figuras.
Les images de la vie terrestre de la Vierge dans l'art mural (peintures et mosaïques) en France et en Italie : des origines de l’iconographie chrétie…
2012
This thesis is devoted to wall images of the Virgin’s earthly life, an iconographic sequence composed of the young Mary’s history and episodes from Christ’s life which are related to the Virgin, until Pentecost. This research comes within the extended framework from the early Christian art to the Council of Trent. It is based on an abundant iconographic documentation which includes more than 2300 pictures, wall paintings and mosaics, preserved in France and Italy. The first part of the thesis is dedicated to the quantitative analysis of the iconographic documentation, according to a triple point of view. A thematic analysis identifies three phases in the chronological sequence of the Virgin…
Marie : le culte de la Vierge dans la société médiévale
1996
ISBN : 2-7010-1338-0; Le 9 septembre 1995, 109 statues de la Vierge étaient bénies au Puy-en-Velay, un sanctuaire marial renommé depuis le Xe siècle au moins, avant de se disperser sous escorte motorisée pour reconvertir la France. A l'heure où Marie reprend ainsi du "service actif" et où ma mariologie confine parfois à la mariolâtrie, une équipe internationale d'historiens réunis autour de Georges Duby s'est décidé à revisiter le culte de la Vierge. Cette démarche collective s'efforce de penser dans leurs richesses parfois dérangeante les multiples figures de Marie ans l'occident chrétien sur un temps long, des IIe-IIIe siècles aux XIVe-XVe siècles, à partir d'une documentation étendue (ic…
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot–Marie–Tooth neuro…
2014
One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is GDAP1. In this work, we show that there is a true ortholog of this gene in Drosophila, which we have named Gdap1. By up- and down-regulation of Gdap1 in a tissue-specific manner, we show that altering its levels of expression produces changes in mitochondrial size, morphology and distribution, and neuronal and muscular degeneration. Interestingly, muscular degeneration is tissue-autonomous and not dependent on innervation. Metabolic analyses of our experimental genotypes suggest that alterations in oxidative stress are not a primary cause of the neuromuscular degeneration but a long-term c…
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
2014
Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. We investigated the JPH1 gene as a genetic modifier of clinical expression variability because junctophilin-1 (JPH1) is a good positional and functional candidate. We demonstrated that the JPH1-GDAP1 cluster forms a paralogon and is conserved in vertebrates. Moreover, both proteins play a role in Ca(2+) homeostasis, and we demonstrated that JPH1 is able to restore the store-operated Ca…