Lactate dehydrogenase and hemolysis index to predict vaso-occlusive crisis in sickle cell disease

Autor: Guillaume Feugray, Cécile Dumesnil, Maximilien Grall, Ygal Benhamou, Helene Girot, Julie Fettig, Valery Brunel, Paul Billoir

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)

Abstract Sickle cell disease (SCD) is an inherited hemoglobinopathy disorder associated with chronic hemolysis. A major complication is vaso-occlusive crisis (VOC), associating frequent hospitalization, morbidity and mortality. The aim of this study

Externí odkaz: https://doaj.org/article/03a52466c913460f8f8b8ea760b1d1c6

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

Autor: Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour

Publikováno v: EBioMedicine, Vol 51, Iss , Pp - (2020)

Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichme

Externí odkaz: https://doaj.org/article/f4615d7cffba4666a72a02f624b5ba23

Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome.

Autor: Mariane de Montalembert, Jean-Antoine Ribeil, Valentine Brousse, Agnes Guerci-Bresler, Aspasia Stamatoullas, Jean-Pierre Vannier, Cécile Dumesnil, Agnès Lahary, Mohamed Touati, Krimo Bouabdallah, Marina Cavazzana, Emmanuelle Chauzit, Amandine Baptiste, Thibaud Lefebvre, Hervé Puy, Caroline Elie, Zoubida Karim, Olivier Ernst, Christian Rose

Publikováno v: PLoS ONE, Vol 12, Iss 3, p e0172147 (2017)

The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with my

Externí odkaz: https://doaj.org/article/002d532590b14061a3fc1d1939ec6a2d

Could Aberrant Migration Explain Metachronous Germ Cell Tumors?

Autor: Olivia Chapuis, Pierre Kubicek, Aude Fléchon, Cécile Faure-Conter, Julien Jacquemus, Tanguy Fenouil, Cécile Dumesnil

Publikováno v: Cancer Investigation. :1-7

Extragonadal germ cell tumors (GCTs) are thought to arise as a result of local transformation of primordial gonadal cells (PGCs) that become misplaced during embryogenesis. With the exception of bilateral testis tumors, metachronous GCT (i.e., occurr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8056e3f3ab5f40b6e331384c3be93eea
https://doi.org/10.1080/07357907.2020.1828447

Compliance with Early Long-Term Prophylaxis Guidelines for Severe Hemophilia A

Autor: Paul Saultier, Yves Guillaume, Virginie Demiguel, Claire Berger, Annie Borel-Derlon, Ségolène Claeyssens, Annie Harroche, Caroline Oudot, Anne Rafowicz, Marc Trossaert, Bénédicte Wibaut, Christine Vinciguerra, Mohamed Boucekine, Karine Baumstarck, Sandrine Meunier, Thierry Calvez, Hervé Chambost, Achille Aouba, Faezeh Legrand, Chantal Rothschild, Marie-Françoise Torchet, Roseline d’Oiron, Thierry Lambert, Yves Laurian, Jennifer Biernat, Jenny Goudemand, Armelle Parquet, Véronique Tintillier, Anne Durin Assollant, Claude Négrier, Sabine Castet, Viviane Guérin, Yohann Huguenin, Marguerite Micheau, Anne Ryman, Hérve Chambost, Céline Falaise, Marie Françoise Thiercelin-Legrand, Marianne Fiks-Sigaud, Marc Fouassier, Edith Fressinaud, Sophie Voisin, Albert Faradji, Patrick Lutz, Marie Elisabeth Briquel, Birgit Frotscher, Béatrice Fimbel, Yves Gruel, Claude Guerois, Sandra Regina, Jean Baptiste Valentin, Christine Biron Andreani, Philippe Codine, Daniel Donadio, Robert Navarro, Paola Rospide, Jean-François Schved, Bénédicte Collet, Annie Borel Derlon, Philippe Gautier, Sophie Bayart, Ben⊚ıt Guillet, JeanneYvonne Borg, Cécile Dumesnil, Charline Normand, Pascale Schneider, Philippe Tron, Jean-Pierre Vannier, Fabienne Dutrillaux, Fabienne Volot, Piotr Gembara, Alain Marques-Verdier, Dalila Adjaoud, Claire Barro, Gilles Pernod, Ben⊚ıt Polack, Patricia Pouzol, Nadra Ounnoughene, Patricia Paugy, Valérie Robert, Natalie Stieltjes, Brigitte Bastenaire, Emmanuelle de Raucourt, Jocelyne Peynet, Valérie Li-Thiao-Te, Brigitte Pautard, Catherine Behar, Stéphanie Gorde, Martine Munzer, Valérie Gay, Elisabeth Benz Lemoine, Laurent Macchi, Lionel De Lumley, Solange Gaillard, Anne Deville, Fabrice Monpoux, Marie Anne Bertrand, Brigitte Pan-Petesch, Abel Hassoun, Brigitte Coatmelec, Philippe Beurrier, Michèle Damay, Philippe Moreau, Odile Pouille-Lievin, Caroline Schoepfer, Eliane Tarral, Monique Bianchin, Joël Nguyen, Olivier Pincemaille, Marie-Odile Peter

Publikováno v: The Journal of Pediatrics
The Journal of Pediatrics, 2021, 234, pp.212-219.e3. ⟨10.1016/j.jpeds.2021.02.071⟩

International audience; Objectives: To evaluate the applicability and compliance with guidelines for early initiation of long-term prophylaxis in infants with severe hemophilia A and to identify factors associated with guideline compliance.Study desi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04ba22efe053930d53178ae033337db
https://doi.org/10.1016/j.jpeds.2021.02.071