Search results for "gauche"
showing 10 items of 62 documents
Evaluation of the effect of chance correlations on variable selection using Partial Least Squares -Discriminant Analysis
2013
Variable subset selection is often mandatory in high throughput metabolomics and proteomics. However, depending on the variable to sample ratio there is a significant susceptibility of variable selection towards chance correlations. The evaluation of the predictive capabilities of PLSDA models estimated by cross-validation after feature selection provides overly optimistic results if the selection is performed on the entire set and no external validation set is available. In this work, a simulation of the statistical null hypothesis is proposed to test whether the discrimination capability of a PLSDA model after variable selection estimated by cross-validation is statistically higher than t…
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…
Immunophenotypical comparison of Gaucher's and pseudo-Gaucher cells.
1996
An immunohistochemical study on bone marrow biopsies and spleens of patients with Gaucher's disease and chronic myeloid leukemia was performed to investigate the immunophenotype of Gaucher's cells and pseudo-Gaucher cells. A panel of antibodies was used which were reactive on paraffin-embedded tissues and directed against different hematopoietic lineage cells. Gaucher's cells and pseudo-Gaucher cells expressed a very similar immunophenotype and displayed an intense reaction for the monocytic antibodies tested, thus confirming their common origin and that they belong to the same system. The expression of HLA-DR antigens was much stronger in Gaucher's than in pseudo-Gaucher cells. This last f…
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…
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…
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…
Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
2009
Abstract Background/aim To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). Patients, methods There are fifty patients (F/M — 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter. Thirty-nine patients (78%) received imiglucerase (44.4 ± 13.6 U/kg/2 weeks) for 3.1 +/− 1.4 years. Results Based on general prevalence data, our group repr…
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I
2018
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients' leucocytes were studied: enzyme activity at 15 min. post-infusion (Act75 ) reflects the amount of enzyme that is distributed in the body post-ERT infusion, and accumulated glucocerebrosidase activity …
« Gauche-droite, piège à cons » : la preuve par le décolonialisme
2021
International audience