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42 results on '"Germain, D.P."'

2. First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study

Author

Wallace, Eric, primary, Goker-Alpan, Wilcox, additional, Holida, Bernat, additional, Longo, N., additional, Hughes, D., additional, Giraldo, P., additional, Molnar, M.J., additional, Ortiz, Hopkin, additional, Tøndel, C., additional, Linhart, A., additional, Deegan, Jovanovic, additional, Muriello, M., additional, Barshop, Kimonis, additional, Vujkovac, B., additional, Nowak, A., additional, Geberhiwot, T., additional, Pisani, A., additional, Germain, D.P., additional, Kantola, I., additional, Knoll, J., additional, Mehta, Ankit, additional, Waldek, Stephen, additional, Chertkoff, Raul, additional, Almon, Einat, additional, Alon, Sari, additional, Rocco, Rossana, additional, and Warnock, David G., additional

Published
2023
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9. Maladie de Fabry en cardiologie revue de la littérature et point de vue d'experts [Fabry disease in cardiology practice Literature review and expert point of view]

Author

Hagège, Albert, Réant, P., Habib, G., Damy, T., Barone-Rochette, G., Soulat, Gilles, Donal, Erwan, Germain, D.P., Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Service de cardiologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Bordeaux [Bordeaux], Hôpital Lapeyronie [Montpellier] (CHU), Radiopharmaceutiques biocliniques (LRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service de Radiologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CIC-IT Rennes, Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), CCSD, Accord Elsevier, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)

Subjects
[SDV.IB] Life Sciences [q-bio]/Bioengineering, Fabry disease, Enzyme replacement therapy, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Guidelines, Hypertrophic cardiomyopathy
Abstract

International audience; Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged > 30 years and women aged > 40 years most often present with unexplained left ventricular hypertrophy, usually concentric and non-obstructive, but sometimes mimicking sarcomeric hypertrophic cardiomyopathy, particularly when isolated, as in the cardiac or late-onset variant of the disease. In hypertrophic cardiomyopathy cohorts, up to 1% of patients have been diagnosed with Fabry disease. Frequent cardiac symptoms include chronotropic incompetence, severe conduction disturbances and arrhythmias, heart failure and sudden death, and cardiovascular complications are currently the leading cause of death at a mean age of 55 years in men and 66 years in women. Complementary to screening for extracardiac manifestations, the initial cardiac evaluation should include long-duration electrocardiogram recordings, echocardiography and late gadolinium and T1 mapping magnetic resonance imaging. Abnormalities of a non-hypertrophied inferolateral wall at the base of the left ventricle (thinning, decreased strain, midwall fibrosis) and low native T1 signal on magnetic resonance imaging are evocative. Aggressive cardiac management may include the control of cardiovascular risk factors, anticoagulation, permanent cardiac pacing and/or an implantable cardioverter defibrillator device, while antiarrhythmics and beta-blockers should be used with caution. Specific therapy should be initiated at the earliest stage, when the first structural or functional cardiac abnormalities are detected, and should include enzyme replacement therapy (available since 2001) or chaperone therapy (available since 2016) (the use of which is limited to patients with Fabry disease and an amenable α-galactosidase A [GLA] gene mutation). © 2019

Published
2019
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13. Basilar Artery Changes in Fabry Disease

Author

Manara, R., primary, Carlier, R.Y., additional, Righetto, S., additional, Citton, V., additional, Locatelli, G., additional, Colas, F., additional, Ermani, M., additional, Germain, D.P., additional, and Burlina, A., additional

Published
2017
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14. Enzyme replacement therapy with recombinant alpha-galactosidase A in Fabry disease: Preliminary experience in patients with end-stage renal disease or post transplant

Author

Germain, D.P., Bonfils, P., Boutouyrie, P., Brion, N., Froissart, M., Jacquot, C., Jeunemaitre, X., Orssaud, C., Plouin, P.F., Richalet, B., Toussaint, J.F., and Fiessinger, J.N.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Fabry's disease -- Care and treatment, Enzymes -- Health aspects, Biological sciences
Published
2001

19. Imagerie Biologique Imagerie par spectrométrie de masse : un nouvel outil pour l'analyse de biopsies cutanées. Application à la maladie de Fabry

Author

Roy, Sylvaine, Touboul, D., Brunelle, A., Germain, D.P., Prognon, P., Laprevote, O., Chaminade, P., Institut de Chimie des Substances Naturelles (ICSN), and Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)

Subjects
[CHIM.ORGA]Chemical Sciences/Organic chemistry, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2006

20. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

Author

Wilcox, W.R., Oliveira, J.P., Hopkin, R.J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G.M., Lee, P., Eng, C.M., Marodi, L., Stanford, K.E., Breunig, F., Wanner, C., Warnock, D.G., Lemay, R.M., Germain, D.P., Wilcox, W.R., Oliveira, J.P., Hopkin, R.J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G.M., Lee, P., Eng, C.M., Marodi, L., Stanford, K.E., Breunig, F., Wanner, C., Warnock, D.G., Lemay, R.M., and Germain, D.P.

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N=638), 62.5% had an eGFR <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. Proteinuria 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy Udgivelsesdato: 2008/2

Published
2008

22. X-chromosome inactivation in female patients with Fabry disease.

Author

Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., and Germain, D.P.

Subjects
X chromosome, WOMEN patients, ANGIOKERATOMA corporis diffusum, GENETIC disorders, MEDICAL genetics
Abstract

Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X-chromosome inactivation (XCI) in females with FD, its concordance between tissues, and its contribution to the phenotype. Fifty-six females with FD were enrolled. Clinical and biological work-up included two global scores [Mainz Severity Score Index (MSSI) and DS3], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of α-Gal activity. XCI was analyzed in four tissues using DNA methylation studies. Skewed XCI was found in 29% of the study population. A correlation was found in XCI patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual α-Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of XCI were evidenced. XCI significantly impacts the phenotype and natural history of FD in females. [ABSTRACT FROM AUTHOR]

Published
2016
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23. P24—Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry

Author

Wanner, C., primary, Oliveira, J.P., additional, Ortiz, A., additional, Mauer, M., additional, Germain, D.P., additional, Linthorst, G.E., additional, Serra, A.L., additional, Maródi, L., additional, Mignani, R., additional, Cianciaruso, B., additional, Vujkovac, B., additional, Lemay, R., additional, Beitner-Johnson, D., additional, Waldek, S., additional, and Warnock, D.G., additional

Published
2012
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27. Thérapies enzymatiques substitutives des maladies lysosomales

Author

Germain, D.P., primary, Boucly, C., additional, Carlier, R.Y., additional, Caudron, E., additional, Charlier, P., additional, Colas, F., additional, Jabbour, F., additional, Martinez, V., additional, Mokhtari, S., additional, Orlikowski, D., additional, Pellegrini, N., additional, Perronne, C., additional, Prigent, H., additional, Rubinsztajn, R., additional, and Benistan, K., additional

Published
2010
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40. Gaucher disease: clinical, genetic and therapeutic aspects

Author

Germain, D.P.

Subjects
*BONE marrow, *GENETIC disorders, *BLOOD diseases, *THROMBOCYTOPENIA, *GENE therapy
Abstract

Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases for which therapy is now available. Partial deficiency of glucocerebrosidase is associated with parenchymal disease of the liver, spleen, and bone marrow with concomitant anaemia and thrombocytopenia in non-neuronopathic, type 1, Gaucher disease. Severe deficiency of glucocerebrosidase caused by disabling mutation is additionally associated with neurological manifestations in the less common type 2 and type 3 Gaucher diseases. Outside of the Ashkenazi Jewish community, a high molecular diversity is observed. Clarification of genotype–phenotype relationship and the identification of modifier loci that impact on Gaucher disease phenotypes remain a critical area for research. Recombinant glucocerebrosidase (imiglucerase) is an effective mean of treating type 1 Gaucher disease and should be initiated early on in life. Amelioration of hepatosplenomegaly and of haematological manifestations is usually apparent within six months. Bone disease responds more slowly. Imiglucerase has recently been approved for the treatment of type 3 Gaucher disease. Enzyme replacement therapy cannot reverse the neurological deficits in type 2 or type 3 Gaucher disease. This should prompt further research on substrate deprivation and gene therapy. [Copyright &y& Elsevier]

Published
2004
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