11 results on '"Dechomet, M."'
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2. PI*ZQ0Attikon genotype discovery in severe alpha-1 antitrypsin deficiency
- Author
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Papiris, S.A., primary, Veith, M., additional, Lazaratou, A., additional, Balduyck, M., additional, Lombard, C., additional, Dechomet, M., additional, Odou, M.-F., additional, Entrena, E., additional, Osaba, L., additional, Kallieri, M., additional, Apollonatou, V., additional, Prountzos, S., additional, Kontopoulou, C., additional, Kolilekas, L., additional, Ferrarotti, I., additional, Mornex, J.-F., additional, Vogelmeier, C.-F., additional, Greulich, T., additional, and Manali, E.D., additional
- Published
- 2023
- Full Text
- View/download PDF
3. French clinical practice guidelines for the diagnosis and management of lung disease with alpha 1-antitrypsin deficiency
- Author
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Mornex, J.-F., Balduyck, M., Bouchecareilh, M., Cuvelier, A., Epaud, R., Kerjouan, M., Le Rouzic, O., Pison, C., Plantier, L., Pujazon, M.-C., Reynaud-Gaubert, M., Toutain, A., Trumbic, B., Willemin, M.-C., Zysman, M., Brun, O., Campana, M., Chabot, F., Chamouard, V., Dechomet, M., Fauve, J., Girerd, B., Gnakamene, C., Lefrançois, S., Lombard, J.-N., Maitre, B., Maynié-François, C., Moerman, A., Payancé, A., Reix, P., Revel, D., Revel, M.-P., Schuers, M., Terrioux, P., Theron, D., Willersinn, F., Cottin, V., Mal, H., Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, Université de Lille, Bordeaux Research In Translational Oncology [Bordeaux] (BaRITOn), Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe de Recherche sur le Handicap Ventilatoire et Neurologique (GRHVN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de pneumologie, oncologie thoracique et soins intensifs respiratoires [Rouen], Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Intercommunal de Créteil (CHIC), Hôpital Pontchaillou, Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 (CIIL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Service de Pneumologie et Immuno-Allergologie [CHU LIlle], Pole Cardio-vasculaire et pulmonaire [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Grenoble Alpes (UGA), Service de pneumologie [Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Centre d’Etude des Pathologies Respiratoires (CEPR), UMR 1100 (CEPR), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Nord [CHU - APHM], Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Aix Marseille Université (AMU), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de pneumologie et d'allergologie respiratoire [Perpignan], Centre Hospitalier Régional d'Orléans (CHRO), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Pneumologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Centre de Référence de l’Hypertension Pulmonaire Sévère [CHU Le Kremlin Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Faculté de Médecine Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Université Paris-Saclay, Centre Hospitalier Montélimar, CH Montélimar, Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon, Hôpital Jeanne de Flandre [Lille], Centre de référence des Maladies Vasculaires du Foie [Paris] (FILFOIE), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d’Hépatologie [Hôpital Beaujon], Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), and AP-HP - Hôpital Bichat - Claude Bernard [Paris]
- Subjects
Déficit en alpha 1-antitrypsine ,Cirrhose du foie ,Emphysème pulmonaire ,Bronchopneumopathie chronique obstructive ,[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology ,[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract - Abstract
International audience; Contexte: Le déficit en alpha 1-antitrypsine (DAAT) est une maladie génétique autosomique récessive associée à l’état homozygote du variant Z du gène SERPINA1. Les manifestations cliniques sont un déficit sévère en alpha 1-antitrypsine, un emphysème pulmonaire et une fibrose hépatique.Méthodes: Des recommandations de prise en charge du DAAT ont été élaborées à l’initiative du centre coordonnateur de référence des maladies pulmonaires rares, sous l’égide de la Société de pneumologie de langue française, par des groupes de coordination, rédaction, et lecture, impliquant des pneumologues de divers modes d’exercice, biologistes, hépatologue, pharmacien hospitalier, conseiller en génétique, radiologues, médecins généralistes, cadre de santé, et associations de patients. La méthode d’élaboration des « Recommandations pour la pratique clinique » de la Haute autorité de santé a été suivie, incluant un vote en ligne selonune échelle Likert.Résultats: Après une analyse bibliographique, 20 recommandations ont été proposées par les groupes de travail, portant sur tous les aspects de la maladie : diagnostic biologique, bilan initial, conseils d’hygiène de vie, information, indications et modalités du traitement substitutif, dépistage.Conclusion: Ces recommandations fondées sur les preuves sont destinées à guider le diagnostic et la prise en charge pratique du DAAT.
- Published
- 2022
- Full Text
- View/download PDF
4. The Clinical Relevance of Antifibrillarin (anti‐U3‐RNP) Autoantibodies in Systemic Sclerosis
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Tall, F., Dechomet, M., Riviere, S., Cottin, V., Ballot, E., Tiev, K. P., Montin, R., Morin, C., Chantran, Y., Grange, C., Jullien, D., Ninet, J., Chretien, P., Cabane, J., Fabien, N., and Johanet, C.
- Published
- 2017
- Full Text
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5. Evaluation du dosage de cortisol libre urinaire sur automate Architect d’Abbott (méthode directe)
- Author
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Raverot, V., primary, Dechomet, M., additional, Raverot, G., additional, Plotton, I., additional, Roucher, F., additional, and Morel, Y., additional
- Published
- 2013
- Full Text
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6. [Validation of a method for measuring the antielastolytic activity of human circulating alpha1-antitrypsin].
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Dechomet M, Zerimech F, Chapuis-Cellier C, Lombard C, and Balduyck M
- Subjects
- Humans, Reproducibility of Results, Female, Male, Animals, Adult, Swine, Middle Aged, Spectrophotometry methods, alpha 1-Antitrypsin blood, alpha 1-Antitrypsin analysis, alpha 1-Antitrypsin Deficiency diagnosis, alpha 1-Antitrypsin Deficiency blood, Pancreatic Elastase analysis, Pancreatic Elastase blood
- Abstract
The existence of alpha-1 antitrypsin variants with apparently unremarkable phenotypes and serum concentrations, contrasting with a clinical picture suggestive of a severe deficiency, led us to investigate whether in these cases there was a reduction or even suppression of the capacity of alpha-1 antitrypsin to inhibit elastase. To this end, in two different laboratories, we adapted and validated a method for measuring the functional activity of alpha-1 antitrypsin, based on spectrophotometric kinetic analysis of the inhibition by serum alpha-1 antitrypsin of the hydrolytic activity of porcine pancreatic elastase on a chromogenic substrate. This method has proved to be robust, reproducible and transferable and made possible to define, on the basis of an analysis of a hospital population, a functionality index with a confidence interval comprised between 0.87 and 1.2, allowing to identify subjects likely to have a functional deficiency of alpha-1 antitrypsin, whether this deficiency being of a genetic origin without any quantitative or phenotypic translation, or whether being acquired under the effect of external agents (cigarette smoke or viruses).
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- 2024
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7. PI*ZQ0 Attikon genotype discovery in severe alpha-1 antitrypsin deficiency.
- Author
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Papiris SA, Veith M, Lazaratou A, Balduyck M, Lombard C, Dechomet M, Odou MF, Entrena E, Osaba L, Kallieri M, Apollonatou V, Prountzos S, Kontopoulou C, Kolilekas L, Ferrarotti I, Mornex JF, Vogelmeier CF, Greulich T, and Manali ED
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- Humans, Genotype, alpha 1-Antitrypsin Deficiency genetics
- Abstract
Competing Interests: Declaration of Competing Interest EE and LO are working at the Progenika Biopharma, a Grifols Company, Derio, Vizcaya, Spain. All authors have provided an ICMJE statement regarding any other conflict of interest related and un-related to this work.
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- 2023
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8. Alpha1-antitrypsin deficiency: An updated review.
- Author
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Mornex JF, Traclet J, Guillaud O, Dechomet M, Lombard C, Ruiz M, Revel D, Reix P, and Cottin V
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- Humans, Pulmonary Emphysema etiology, Pulmonary Emphysema diagnosis, Pulmonary Disease, Chronic Obstructive etiology, Pulmonary Disease, Chronic Obstructive diagnosis, Liver Cirrhosis diagnosis, Liver Cirrhosis etiology, alpha 1-Antitrypsin Deficiency diagnosis, alpha 1-Antitrypsin Deficiency complications, alpha 1-Antitrypsin Deficiency genetics, alpha 1-Antitrypsin Deficiency therapy, alpha 1-Antitrypsin genetics
- Abstract
Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of AATD, reported 60 years ago associate a severe deficiency, pulmonary emphysema and/or liver fibrosis. Pulmonary emphysema is due to the severe alpha1-antitrypsin deficiency of the ZZ homozygous status and is favored by smoking. Liver fibrosis is due to the ZZ homozygous status and is favored by obesity and excessive chronic alcohol intake, with a risk of liver cancer. Diagnosis is based on serum level and either isoelectric focusing determination of the biochemical phenotype or PCR detection of some variants. SERPINA1 gene sequencing is necessary in case of discrepancies between the results of these tests. No treatment is available for the liver disease in AATD. Although no specific trial has been performed, COPD in AATD should be treated as per COPD recommendations. Based on a randomized clinical trial, augmentation therapy is indicated in non-smoking adults less than 70 years of age with emphysema at chest CT, confirmed homozygous AATD, and FEV1 between 35% and 70% of predicted. In contrast Z heterozygosis (MZ or SZ) brings a risk of lung or liver disease only in association with further risk factors. Early detection, in all patients with COPD and chronic liver disease, is critical for the correct information of Z variant carriers. News ways of correcting the liver production of alpha1-antitrypsin will modify the care of AATD patients., Competing Interests: Declaration of Competing Interest The authors have not supplied their declaration of competing interest., (Copyright © 2023. Published by Elsevier Masson SAS.)
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- 2023
- Full Text
- View/download PDF
9. [French clinical practice guidelines for the diagnosis and management of lung disease with alpha 1-antitrypsin deficiency].
- Author
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Mornex JF, Balduyck M, Bouchecareilh M, Cuvelier A, Epaud R, Kerjouan M, Le Rouzic O, Pison C, Plantier L, Pujazon MC, Reynaud-Gaubert M, Toutain A, Trumbic B, Willemin MC, Zysman M, Brun O, Campana M, Chabot F, Chamouard V, Dechomet M, Fauve J, Girerd B, Gnakamene C, Lefrançois S, Lombard JN, Maitre B, Maynié-François C, Moerman A, Payancé A, Reix P, Revel D, Revel MP, Schuers M, Terrioux P, Theron D, Willersinn F, Cottin V, and Mal H
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- Humans, alpha 1-Antitrypsin therapeutic use, Lung Diseases diagnosis, Lung Diseases etiology, Lung Diseases therapy, alpha 1-Antitrypsin Deficiency complications, alpha 1-Antitrypsin Deficiency diagnosis, alpha 1-Antitrypsin Deficiency epidemiology
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- 2022
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10. A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children.
- Author
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Joly P, Ruiz M, Garin R, Karatas E, Lachaux A, Restier L, Belmalih A, Renoux C, Lombard C, Dechomet M, and Bouchecareilh M
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- Child, Cohort Studies, France, Haplotypes, Humans, Polymorphism, Single Nucleotide, LDL-Receptor Related Proteins genetics, Liver Diseases genetics, Membrane Transport Proteins genetics, alpha 1-Antitrypsin genetics, alpha 1-Antitrypsin Deficiency genetics
- Abstract
Abstract: The presence of modifier genes is now well recognized in severe liver disease outcome associated with alpha-1-antitrypsin deficiency (A1ATD) but their identification remains to be fully elucidated. To address this goal, we performed a candidate gene study with the SORL1 gene, already identified as risk gene in early-onset Alzheimer Disease families. A particular SORL1 micro-haplotype constituted with 3 SNPs (wild-type form TTG) was genotyped on 86 ZZ A1ATD children issued from 66 families. Interestingly, the mutated forms of this micro-haplotype (CAT most of the time) were associated with lower occurrence of severe liver disease and in cellulo studies showed that SORL1 influences Z-A1ATD cellular toxicity and biogenesis. These data suggest that the mutated CAT form of SORL1 micro-haplotype may partly prevent from severe liver disease in A1ATD children. Overall, these findings support a replication study on an independent cohort and additional in cellulo studies to confirm these promising results., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)
- Published
- 2021
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11. [Accreditation of cryoglobulins: Experience of CHU of Lyon].
- Author
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Dechomet M, Kolopp-Sarda MN, Dimet I, and Lombard C
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- Humans, Laboratories, Reference Standards, Research Design, Accreditation, Cryoglobulins
- Abstract
Research and identification of a serum cryoglobulin is a current laboratory test. This analysis is complex to accredit due to, firstly, very strict pre-analytical requirements, secondly, lack of standardization between laboratories in carrying out the different phases of sampling until results validation. The method validation of this analysis, carried out to meet requirements of the NF EN ISO 15189 standard, is a complex process divided into three sub-processes: cryoglobulin research including detection and isolation of cryoprecipitate, typing by immunofixation and quantification of cryoglobulin by immunoglobulin assays. This work made it possible, thanks to the development of a risk matrix taking into account all pre-analytical, analytical and post-analytical phases, to stress the importance of technical proficiency and management of critical equipment . With this approach, the laboratory also checked homogeneity of results validation practices.
- Published
- 2021
- Full Text
- View/download PDF
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