Search results for "gauche"
showing 10 items of 62 documents
Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review
2023
Abstract Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylceramide, glucosylsphingosine (also known as lyso-Gb1), represents a more reliable biomarker ch…
L’università nella città. Parigi e il quartiere Masséna Rive Gauche
2009
The main topic of this abstract takes into the emblematic aspects of the ambitious plan of transformation Rive Gauche, operating in Paris, and analyses the reasons why such as universities facilities has been reintroduced in the city, inverting the main practise now diffused in many European and Italian cities, which is to locate university poles far away from city centres. The site Masséna Rive Gauche, in the east of Paris, is occupied by the bundle of the external railroads of the Gare d’Austerliz. Even when standing as a not interesting place, marked by hard urban fractures, the site has shown great potentialities of transformation for its central location, and for longing the Seine fore…
Transparence et totalitarisme
2013
International audience
Besançon at the decolonization time : the decolonization process studied a medium-sized French ciy from 1945 to the 1960s
2016
This doctoral thesis aims at assessing the impact of the decolonisation process on the population of Besançon. The study of an urban community involves taking an interest in various historiographical fields (such as the political and cultural history of both colonisation and decolonisation, as well as the Cold War). From a people's history perspective, our purpose is to grasp how people experienced decolonisation (how they understood, felt, thought, acted). This research covers the period from 1945 up to the 1960s. A two-angled approach has been applied, including comparisons on local and national levels and a thorough investigation of Besançon's social environment in and of itself. The div…
El discreto encanto de la subversión. Una crítica cultural de la Gauche Divine. (Alberto Villamandos)
2015
Das Unheimliche (Postcolonialisme et reconfiguration à l'extrême gauche). Autour d'une configuration, à partir de : Race et Capitalisme, Les Cahiers …
2013
International audience; Pourquoi ce titre, emprunté à Sigmund Freud1, pourquoi à propos d'une livraison pour Syllepse d'un numéro des Cahiers de l'émancipation ? Le propos n'est pas une lecture pathologique, mais davantage symptomale, soit une façon – à la manière assumée d'un usage « sauvage » du lexique psychanalytique tel que pratiquée naguère par l'histoire du temps présent – de questionner une part de l'agency 2 de l'extrême gauche française contemporaine, entre stratégie(s) académique(s), reconfiguration(s) politique(s) autour des questions du postcolonialisme, du marxisme et de son efficace politique sur la scène française. Cette livraison offre un dossier « Race et capitalisme » coo…
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
2019
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. Aim: The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify ‘at-risk’ patients who may benefit from diagnostic testing. Methods: An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managin…
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
2022
Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound h…
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
2013
Background: Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1. Methods: We used a framework of functional and genetic approaches in order to further characterize a potential role of GBA2 in GD. Glucosylceramide (GlcCer) levels in spleen, liver and brain…
Reversibilität von Veränderungen der links- und rechtsventrikulären Geometrie und Hämodynamik bei pulmonaler Hypertonie. Echokardiographische Charakt…
1997
Durch pulmonale Thrombendarteriektomie kann bei Patienten mit chronischer embolisch bedingter pulmonaler Hypertonie eine akute rechtsventrikulare Nachlastsenkung erzielt werden. Der Einflus auf die rechts- und linksventrikulare Geometrie und Hamodynamik wurde prospektiv mit Hilfe der transthorakalen Echokardiographie an einem Kollektiv von 14 Patienten (8 Frauen, 6 Manner; Alter 55 ± 20 Jahre) vor und nach 18 ± 12 Tagen postoperativ untersucht. Nach operativer Desobliteration der Pulmonalarterien fand sich eine Abnahme des invasiv bestimmten totalen pulmonalen Gefaswiderstands von 986 ± 318 auf 323 ± 280 dyn x s/cm5; p < 0,05. Der echokardiographisch erfaste systolische pulmonalarterielle D…