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16 results on '"Sacaze, Elise"'

2. 3q29 duplications: A cohort of 46 patients and a literature review

Author

Massier, Marie, primary, Doco‐Fenzy, Martine, additional, Egloff, Matthieu, additional, Le Guillou, Xavier, additional, Le Guyader, Gwenaël, additional, Redon, Sylvia, additional, Benech, Caroline, additional, Le Millier, Karine, additional, Uguen, Kevin, additional, Ropars, Juliette, additional, Sacaze, Elise, additional, Audebert‐Bellanger, Séverine, additional, Apetrei, Andreea, additional, Molin, Arnaud, additional, Gruchy, Nicolas, additional, Vincent‐Devulder, Aline, additional, Spodenkiewicz, Marta, additional, Jacquin, Clémence, additional, Loron, Gauthier, additional, Thibaud, Marie, additional, Delplancq, Geoffroy, additional, Brisset, Sophie, additional, Lesieur‐Sebellin, Marion, additional, Malan, Valérie, additional, Romana, Serge, additional, Rio, Marlène, additional, Marlin, Sandrine, additional, Amiel, Jeanne, additional, Marquet, Valentine, additional, Dauriat, Benjamin, additional, Moradkhani, Kamran, additional, Mercier, Sandra, additional, Isidor, Bertrand, additional, Arpin, Stéphanie, additional, Pujalte, Mathilde, additional, Jedraszak, Guillaume, additional, Pebrel‐Richard, Céline, additional, Salaun, Gaëlle, additional, Laffargue, Fanny, additional, Boudjarane, John, additional, Missirian, Chantal, additional, Chelloug, Nora, additional, Toutain, Annick, additional, Chiesa, Jean, additional, Keren, Boris, additional, Mignot, Cyril, additional, Gouy, Evan, additional, Jaillard, Sylvie, additional, Landais, Emilie, additional, and Poirsier, Céline, additional

Published
2024
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3. Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism

Author

Lefèvre, Charles R., primary, Sacaze, Elise, additional, Damaj, Léna, additional, Rollier, Paul, additional, Lenski, Marie, additional, Le Stradic, Camille, additional, Bendavid, Claude, additional, Reynier, Pascal, additional, Dieu, Xavier, additional, Prunier, Delphine, additional, Moreau, Caroline, additional, and Homedan, Chadi, additional

Published
2023
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4. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Author

Khatri, Deepak, primary, Putoux, Audrey, additional, Cologne, Audric, additional, Kaltenbach, Sophie, additional, Besson, Alicia, additional, Bertiaux, Eloïse, additional, Guguin, Justine, additional, Fendler, Adèle, additional, Dupont, Marie A., additional, Benoit-Pilven, Clara, additional, Qebibo, Leila, additional, Ahmed-Elie, Samira, additional, Audebert-Bellanger, Séverine, additional, Blanc, Pierre, additional, Rambaud, Thomas, additional, Castelle, Martin, additional, Cornen, Gaëlle, additional, Grotto, Sarah, additional, Guët, Agnès, additional, Guibaud, Laurent, additional, Michot, Caroline, additional, Odent, Sylvie, additional, Ruaud, Lyse, additional, Sacaze, Elise, additional, Hamel, Virginie, additional, Bordonné, Rémy, additional, Leutenegger, Anne-Louise, additional, Edery, Patrick, additional, Burglen, Lydie, additional, Attié-Bitach, Tania, additional, Mazoyer, Sylvie, additional, and Delous, Marion, additional

Published
2023
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6. Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique, Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie-Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, Broué, Pierre, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique, Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie-Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, and Broué, Pierre

Abstract

Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. These symptoms are mainly described during acute crises, and many reports do not mention them because hypoglycemia and hyperlactatemia are more frequently in the forefront. Herein, the liver manifestations of 18 patients affected with fructose-1,6-bisphosphatase deficiency are described and the corresponding literature is reviewed. Interestingly, all 18 patients had liver abnormalities either during follow-up (hepatomegaly [n = 8/18], elevation of transaminases [n = 6/15], bright liver [n = 7/11]) or during acute crises (hepatomegaly [n = 10/17], elevation of transaminases [n = 13/16], acute liver failure [n = 6/14], bright liver [n = 4/14]). Initial reports described cases of liver steatosis, when liver biopsy was necessary to confirm the diagnosis by an enzymatic study. There is no clear pathophysiological basis for this fatty liver disease but we postulate that endoplasmic reticulum stress and de novo lipogenesis activation could be key factors, as observed in FBP1 knockout mice. Liver steatosis may expose patients to severe long-term liver complications. As hypoglycemia becomes less frequent with age, most adult patients are no longer monitored by hepatologist. Signs of fructose-1,6-bisphosphatase deficiency may be subtle and can be missed in childhood. We suggest that fructose-1,6-bisphosphatase deficiency should be considered as an etiology of hepatic steatosis, and a liver monitoring protocol should be set up for these patients, during lifelong follow-up.

Published
2022

7. Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B

Author

Brock, Stefanie, primary, Laquerriere, Annie, additional, Marguet, Florent, additional, Myers, Scott J, additional, Hongjie, Yuan, additional, Baralle, Diana, additional, Vanderhasselt, Tim, additional, Stouffs, Katrien, additional, Keymolen, Kathelijn, additional, Kim, Sukhan, additional, Allen, James, additional, Shaulsky, Gil, additional, Chelly, Jamel, additional, Marcorelle, Pascale, additional, Aziza, Jacqueline, additional, Villard, Laurent, additional, Sacaze, Elise, additional, de Wit, Marie C Y, additional, Wilke, Martina, additional, Mancini, Grazia Maria Simonetta, additional, Hehr, Ute, additional, Lim, Derek, additional, Mansour, Sahar, additional, Traynelis, Stephen F, additional, Beneteau, Claire, additional, Denis-Musquer, Marie, additional, Jansen, Anna C, additional, Fry, Andrew E, additional, and Bahi-Buisson, Nadia, additional

Published
2022
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8. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Author

Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J., Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C. Y., Wilke, Martina, and Mancini, Grazia Maria Simonetta

Abstract

Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs. Methods We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in GRIN1 are presented. We report the clinical and neuropathological features of one additional individual with homozygous pathogenic variants in GRIN1. Results Heterozygous variants in GRIN1 and GRIN2B were associated with overlapping severe clinical and imaging features, including global developmental delay, epilepsy, diffuse dysgyria, dysmorphic basal ganglia and hippocampi. Neuropathological examination in two fetuses with heterozygous GRIN1 variants suggests that proliferation as well as radial and tangential neuronal migration are impaired. In addition, we show that neuronal migration is also impaired by homozygous GRIN1 variants in an individual with microcephaly with simplified gyral pattern. Conclusion These findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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9. Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up

Author

Gorce, Magali, primary, Lebigot, Elise, additional, Arion, Alina, additional, Brassier, Anaïs, additional, Cano, Aline, additional, De Lonlay, Pascale, additional, Feillet, François, additional, Gay, Claire, additional, Labarthe, François, additional, Nassogne, Marie‐Cécile, additional, Roche, Sandrine, additional, Roubertie, Agathe, additional, Sacaze, Elise, additional, Touati, Guy, additional, and Broué, Pierre, additional

Published
2021
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11. Overlapping cortical malformations in patients with pathogenic variants in GRIN1and GRIN2B

Author

Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J, Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C Y, Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F, Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C, Fry, Andrew E, and Bahi-Buisson, Nadia

Abstract

BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs.MethodsWe report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in GRIN1are presented. We report the clinical and neuropathological features of one additional individual with homozygous pathogenic variants in GRIN1.ResultsHeterozygous variants in GRIN1and GRIN2Bwere associated with overlapping severe clinical and imaging features, including global developmental delay, epilepsy, diffuse dysgyria, dysmorphic basal ganglia and hippocampi. Neuropathological examination in two fetuses with heterozygous GRIN1variants suggests that proliferation as well as radial and tangential neuronal migration are impaired. In addition, we show that neuronal migration is also impaired by homozygous GRIN1variants in an individual with microcephaly with simplified gyral pattern.ConclusionThese findings expand our understanding of the clinical and imaging features of the ‘NMDARopathy’ spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.

Published
2023
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12. Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.

Author

Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie‐Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, and Broué, Pierre

Abstract

Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose‐1,6‐bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. These symptoms are mainly described during acute crises, and many reports do not mention them because hypoglycemia and hyperlactatemia are more frequently in the forefront. Herein, the liver manifestations of 18 patients affected with fructose‐1,6‐bisphosphatase deficiency are described and the corresponding literature is reviewed. Interestingly, all 18 patients had liver abnormalities either during follow‐up (hepatomegaly [n = 8/18], elevation of transaminases [n = 6/15], bright liver [n = 7/11]) or during acute crises (hepatomegaly [n = 10/17], elevation of transaminases [n = 13/16], acute liver failure [n = 6/14], bright liver [n = 4/14]). Initial reports described cases of liver steatosis, when liver biopsy was necessary to confirm the diagnosis by an enzymatic study. There is no clear pathophysiological basis for this fatty liver disease but we postulate that endoplasmic reticulum stress and de novo lipogenesis activation could be key factors, as observed in FBP1 knockout mice. Liver steatosis may expose patients to severe long‐term liver complications. As hypoglycemia becomes less frequent with age, most adult patients are no longer monitored by hepatologist. Signs of fructose‐1,6‐bisphosphatase deficiency may be subtle and can be missed in childhood. We suggest that fructose‐1,6‐bisphosphatase deficiency should be considered as an etiology of hepatic steatosis, and a liver monitoring protocol should be set up for these patients, during lifelong follow‐up. [ABSTRACT FROM AUTHOR]

Published
2022
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16. Comparison of sedation using pentobarbital or chlorpromazine in pediatric non-invasive imaging procedures: A before and after study.: Comparison of sedation using pentobarbital or chlorpromazine in non-invasive imaging procedures.

Author

Morin E, Xu E, Sacaze E, Legeas O, and Ropars J

Abstract

Background: Sedation is often required for pediatric medical imaging procedures to ensure compliance and image quality. Recommendations for pediatric sedation exist, but there are currently no guidelines for the choice of the sedative drug., Objective: To compare the efficacy and adverse events of per os pentobarbital with intravenous chlorpromazine in children undergoing diagnostic imaging procedures. We hypothesized that the efficacy of per os pentobarbital would not be inferior to that of intravenous chlorpromazine, that safety would be similar, and that patient acceptance would be higher., Material and Methods: A pilot study (before and after study methodology) was performed. The sedation of 247 children with intravenous chlorpromazine or oral pentobarbital was evaluated for 6 months successively (independently by two radiologists, both blinded to the sedation technique). The primary outcome was sedation success as defined by an acceptable image quality. Secondary outcomes were induction time, length of hospital stay, adverse events, parental satisfaction and potential factors associated with failure of pentobarbital sedation., Results: The sedation success rate of per os pentobarbital was found to be not inferior to that of intravenous chlorpromazine (83 % vs 90 %, p < 0.01). Mean length of hospital stay was shorter with per os pentobarbital. Despite the higher incidence of agitation during recovery with per os pentobarbital, parents expressed a preference for it. Per os pentobarbital failed more often in children older than 5 years., Conclusion: Per os pentobarbital may be an effective alternative to intravenous chlorpromazine, especially in children under 5 years of age., Competing Interests: Declaration of competing interest Authors stated no conflict of interest to disclose., (Copyright © 2024 Société française de pédiatrie. Published by Elsevier Masson SAS. All rights reserved.)

Published
2024
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