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1. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Author

Salort-Campana, Emmanuelle, Solé, Guilhem, Magot, Armelle, Tard, Céline, Noury, Jean-Baptiste, Behin, Anthony, De La Cruz, Elisa, Boyer, François, Lefeuvre, Claire, Masingue, Marion, Debergé, Louise, Finet, Armelle, Brison, Mélanie, Spinazzi, Marco, Pegat, Antoine, Sacconi, Sabrina, Malfatti, Edoardo, Choumert, Ariane, Bellance, Rémi, Bedat-Millet, Anne-Laure, Feasson, Léonard, Vuillerot, Carole, Jacquin-Piques, Agnès, Michaud, Maud, Pereon, Yann, Stojkovic, Tanya, Laforêt, Pascal, Attarian, Shahram, and Cintas, Pascal

Published
2024
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2. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Author

Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, and Pascal Cintas

Subjects
Spinal muscular atrophy, SMA, Multidisciplinary team meeting, Clinical decision-making, Treatment, Medicine
Abstract

Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been available with restrictions evolving with time. In this peculiar context of lack of data regarding adult patients, many questions were raised to define the indications of treatment and the appropriate follow-up in this population. To homogenize access to treatment in France, a national multidisciplinary team meeting dedicated to adult SMA patients, named SMA multidisciplinary team meeting, (SMDTs) was created in 2018. Our objective was to analyze the value of SMDTs in the decision-making process in SMA adult patients and to provide guidelines about treatment. Methods From October 2020 to September 2021, data extracted from the SMDT reports were collected. The primary outcome was the percentage of cases in which recommendations on validating treatment plans were given. The secondary outcomes were type of treatment requested, description of expectations regarding treatment and description of recommendations or follow-up and discontinuation. Data were analyzed using descriptive statistics. Comparisons between the type of treatment requested were performed using Mann–Whitney test or the Student t test for quantitative data and the Fisher’s exact test or the χ2 test for qualitative data. Results Cases of 107 patients were discussed at the SMDTs with a mean age of 35.3 (16–62). Forty-seven were SMA type 2, and 57 SMA type 3. Twelve cases were presented twice. Out of 122 presentations to the SMDTs, most of requests related to the initiation of a treatment (nusinersen (n = 46), risdiplam (n = 54), treatment without mentioning preferred choice (n = 5)) or a switch of treatment (n = 12). Risdiplam requests concerned significantly older patients (p = 0.002), mostly SMA type 2 (p

Published
2024
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4. Exploring the Role of Apigenin in Neuroinflammation: Insights and Implications

Author

Karine Charrière, Vincent Schneider, Manon Perrignon-Sommet, Gérard Lizard, Alexandre Benani, Agnès Jacquin-Piques, and Anne Vejux

Subjects
4′,5,7-trihydroxyflavone, apigenin, brain, cancer, flavonoids, natural products, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Neuroinflammation, a hallmark of various central nervous system disorders, is often associated with oxidative stress and neuronal or oligodendrocyte cell death. It is therefore very interesting to target neuroinflammation pharmacologically. One therapeutic option is the use of nutraceuticals, particularly apigenin. Apigenin is present in plants: vegetables (parsley, celery, onions), fruits (oranges), herbs (chamomile, thyme, oregano, basil), and some beverages (tea, beer, and wine). This review explores the potential of apigenin as an anti-inflammatory agent across diverse neurological conditions (multiple sclerosis, Parkinson’s disease, Alzheimer’s disease), cancer, cardiovascular diseases, cognitive and memory disorders, and toxicity related to trace metals and other chemicals. Drawing upon major studies, we summarize apigenin’s multifaceted effects and underlying mechanisms in neuroinflammation. Our review underscores apigenin’s therapeutic promise and calls for further investigation into its clinical applications.

Published
2024
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6. List of contributors

Author

Ayed, Charfedinne, primary, Badonnel, Karine, additional, Baly, Christine, additional, Briand, Loïc, additional, Brindisi, Marie-Claude, additional, Brondel, Laurent, additional, Canon, Francis, additional, Croy, Ilona, additional, de Graaf, Kees C., additional, Duchamp-Viret, Patricia, additional, Feron, Gilles, additional, Forde, Ciarán G., additional, Georgiopoulos, Charalampos, additional, Guichard, Elisabeth, additional, Haehner, Antje, additional, Havermans, Remco C., additional, Heydel, Jean-Marie, additional, Hummel, Thomas, additional, Ibarlucea-Jerez, Maria, additional, Jacquin-Piques, Agnès, additional, Köster, Egon P., additional, Kuczewski, Nicola, additional, Licandro, Hélène, additional, Mojet, Jos, additional, Mouillot, Thomas, additional, Mérignac-Lacombe, Jeanne, additional, Neiers, Fabrice, additional, Neyraud, Eric, additional, Nicklaus, Sophie, additional, Pénicaud, Luc, additional, Rolls, Edmund T., additional, Saint-Eve, Anne, additional, Salles, Christian, additional, Schaal, Benoist, additional, Schwartz, Mathieu, additional, Sinding, Charlotte, additional, Stevenson, Richard J., additional, Thomas-Danguin, Thierry, additional, Tournier, Carole, additional, and van den Heuvel, Emmy, additional

Published
2023
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7. Taste disorders in disease

Author

Brondel, Laurent, primary, Brindisi, Marie-Claude, additional, Jacquin-Piques, Agnès, additional, Mouillot, Thomas, additional, and Pénicaud, Luc, additional

Published
2023
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8. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author

Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, and Sacconi, Sabrina

Published
2022
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9. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author

Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, and The French FSHD registry collaboration group

Subjects
Medicine
Abstract

Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.

Published
2022
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12. Prolonged latency of the Gustatory Evoked Potentials for sucrose solution in subjects living with obesity compared with normal-weight subjects

Author

Jacquin-Piques, Agnès, primary, Mouillot, Thomas, additional, Brindisi, Marie-Claude, additional, Gauthier, Cyril, additional, Barthet, Sophie, additional, Quere, Clémence, additional, Litime, Djihed, additional, Perrignon-Sommet, Manon, additional, Grall, Sylvie, additional, Lienard, Fabienne, additional, Fenech, Claire, additional, Devilliers, Hervé, additional, Rouland, Alexia, additional, Georges, Marjolaine, additional, Penicaud, Luc, additional, Brondel, Laurent, additional, and Leloup, Corinne, additional

Published
2024
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18. Exploring the Role of Apigenin in Neuroinflammation: Insights and Implications.

Author

Charrière, Karine, Schneider, Vincent, Perrignon-Sommet, Manon, Lizard, Gérard, Benani, Alexandre, Jacquin-Piques, Agnès, and Vejux, Anne

Subjects
APIGENIN, ORANGES, NEUROINFLAMMATION, ALZHEIMER'S disease, OREGANO, PARKINSON'S disease, MEMORY disorders
Abstract

Neuroinflammation, a hallmark of various central nervous system disorders, is often associated with oxidative stress and neuronal or oligodendrocyte cell death. It is therefore very interesting to target neuroinflammation pharmacologically. One therapeutic option is the use of nutraceuticals, particularly apigenin. Apigenin is present in plants: vegetables (parsley, celery, onions), fruits (oranges), herbs (chamomile, thyme, oregano, basil), and some beverages (tea, beer, and wine). This review explores the potential of apigenin as an anti-inflammatory agent across diverse neurological conditions (multiple sclerosis, Parkinson's disease, Alzheimer's disease), cancer, cardiovascular diseases, cognitive and memory disorders, and toxicity related to trace metals and other chemicals. Drawing upon major studies, we summarize apigenin's multifaceted effects and underlying mechanisms in neuroinflammation. Our review underscores apigenin's therapeutic promise and calls for further investigation into its clinical applications. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Changes in Taste Perception in Patients with Minor and Major Cognitive Impairment Linked to Alzheimer’s Disease Recorded by Gustatory Evoked Potentials

Author

El Kadiri, Wafa, primary, Perrignon-Sommet, Manon, additional, Delpont, Benoit, additional, Graber, Mathilde, additional, Mohr, Sophie, additional, Mouillot, Thomas, additional, Devilliers, Hervé, additional, Grall, Sylvie, additional, Lienard, Fabienne, additional, Georges, Marjolaine, additional, Brindisi, Marie-Claude, additional, Brondel, Laurent, additional, Bejot, Yannick, additional, Leloup, Corinne, additional, and Jacquin-Piques, Agnès, additional

Published
2023
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21. Cerebral gustatory activation in response to free fatty acids using gustatory evoked potentials in humans

Author

Thomas Mouillot, Emilie Szleper, Gaspard Vagne, Sophie Barthet, Djihed Litime, Marie-Claude Brindisi, Corinne Leloup, Luc Penicaud, Sophie Nicklaus, Laurent Brondel, and Agnès Jacquin-Piques

Subjects
long-chain fatty acids, medium-chain fatty acids, short-chain fatty acids, fatty taste, Biochemistry, QD415-436
Abstract

There is some evidence of specific oro-detection of FFAs in rodents and humans. The aim of this study was to record gustatory evoked potentials (GEPs) in response to FFA solutions and to compare GEPs in response to linoleic acid solution with GEPs obtained after stimulation with sweet and salty tastants. Eighteen healthy men were randomly stimulated with fatty (linoleic acid), sweet (sucrose), and salty (NaCl) solutions at two concentrations in the first experiment. Control recordings (n = 14) were obtained during stimulation by a paraffin oil mixture without FFA or by water. In the second experiment, 28 men were randomly stimulated with five FFA solutions and a paraffin emulsion. GEPs were recorded with electroencephalographic electrodes at Cz, Fz, and Pz. GEPs were observed in response to FFA in all participants. GEP characteristics did not differ according to the quality and the concentration of the solutions in the first experiment and according to the FFA in the second experiment. This study describes for the first time GEPs in response to FFA and demonstrates that the presence of FFA in the mouth triggers an activation of the gustatory cortex. These data reinforce the concept that fat taste could be the sixth primary taste.

Published
2019
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22. Olfatto e gusto

Author

A. Jacquin-Piques

Subjects
General Medicine
Published
2023

23. COVID 19-Induced Smell and Taste Impairments: Putative Impact on Physiology

Author

Nicolas Meunier, Loïc Briand, Agnès Jacquin-Piques, Laurent Brondel, and Luc Pénicaud

Subjects
COVID 19, taste, smell, feeding behavior, physiopathology, Physiology, QP1-981
Abstract

Smell and taste impairments are recognized as common symptoms in COVID 19 patients even in an asymptomatic phase. Indeed, depending on the country, in up to 85–90% of cases anosmia and dysgeusia are reported. We will review briefly the main mechanisms involved in the physiology of olfaction and taste focusing on receptors and transduction as well as the main neuroanatomical pathways. Then we will examine the current evidences, even if still fragmented and unsystematic, explaining the disturbances and mode of action of the virus at the level of the nasal and oral cavities. We will focus on its impact on the peripheral and central nervous system. Finally, considering the role of smell and taste in numerous physiological functions, especially in ingestive behavior, we will discuss the consequences on the physiology of the patients as well as management regarding food intake.

Published
2021
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24. Added value of 18F-florbetaben amyloid PET in the diagnostic workup of most complex patients with dementia in France: A naturalistic study

Author

Ceccaldi, Mathieu, Guedj, Eric, Felician, Olivier, Didic, Mira, Gueriot, Claude, Koric, Lejla, Kletchkova-Gantchev, Radka, Godefroy, Olivier, Andriuta, Daniela, Devendeville, Agnès, Dupuis, Diane, Binot, Ingrid, Barbay, Mélanie, Meyer, Marc-Etienne, Moullard, Véronique, Magnin, Eloi, Chamard, Ludivine, Haffen, Sophie, Morel, Olivier, Drouet, Clément, Boulahdour, Hatem, Goas, Philippe, Querellou-Lefranc, Solène, de la Sayette, Vincent, Cogez, Julien, Branger, Pierre, Agostini, Denis, Manrique, Alain, Rouaud, Olivier, Bejot, Yannick, Jacquin-Piques, Agnès, Dygai-Cochet, Inna, Berriolo-Riedinger, Alina, Moreaud, Olivier, Sauvee, Mathilde, Crépin, Céline Gallazzani, Pasquier, Florence, Bombois, Stéphanie, Lebouvier, Thibaud, Mackowiak-Cordoliani, Marie-Anne, Deramecourt, Vincent, Rollin-Sillaire, Adeline, Cassagnaud-Thuillet, Pascaline, Chen, Yaohua, Semah, Franck, Petyt, Grégory, Krolak-Salmon, Pierre, Federico, Denis, Danaila, Keren Liora, Guilhermet, Yves, Magnier, Christophe, Makaroff, Zaza, Rouch, Isabelle, Xie, Jing, Roubaud, Caroline, Coste, Marie-Hélène, David, Kenny, Sarciron, Alain, Waissi, Aziza Sediq, Scheiber, Christian, Houzard, Claire, Gabelle-Deloustal, Audrey, Bennys, Karim, Marelli, Cecilia, Touati, Lynda, Mariano-Goulart, Denis, de Verbizier-Lonjon, Delphine, Jonveaux, Thérèse, Benetos, Athanase, Kearney-Schwartz, Anna, Perret-Guillaume, Christine, Verger, Antoine, Vercelletto, Martine, Boutoleau-Bretonniere, Claire, Pouclet-Courtemanche, Hélène, Wagemann, Nathalie, Pallardy, Amandine, Hugon, Jacques, Paquet, Claire, Dumurgier, Julien, Millet, Pascal, Queneau, Mathieu, Dubois, Bruno, Epelbaum, Stéphane, Levy, Marcel, Habert, Marie-Odile, Novella, Jean-Luc, Jaidi, Yacine, Papathanassiou, Dimitri, Morland, David, Belliard, Serge, Salmon, Anne, Lejeune, Florence, Hannequin, Didier, Wallon, David, Martinaud, Olivier, Zarea, Aline, Chastan, Mathieu, Pariente, Jérémie, Thalamas, Claire, Galitzky-Gerber, Monique, Tricoire Ricard, Anne-Marie, Calvas, Fabienne, Rigal, Emilie, Payoux, Pierre, Hitzel, Anne, Delrieu, Julien, Ousset, Pierre-Jean, Lala, Françoise, Sastre-Hengan, Nathalie, Shields, Trevor, Perrotin, Audrey, Gismondi, Rossella, Bullich, Santiago, Jovalekic, Aleksandar, Raffa, Nicola, and Stephens, Andrew

Published
2018
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25. Sens chimiques et maladies métaboliques chez l’Homme

Author

Pamela Spanjaard, Thomas Mouillot, Pauline Legris, Alexia Rouland, Corinne Leloup, Agnès Jacquin-Piques, Bruno Vergès, and Marie-Claude Brindisi

Subjects
Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Internal Medicine, Cardiology and Cardiovascular Medicine
Published
2022

28. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Author

Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, and Bassez, Guillaume

Published
2019
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29. Hypothalamic Glucose Hypersensitivity-Induced Insulin Secretion in the Obese Zücker Rat Is Reversed by Central Ghrelin Treatment

Author

Carneiro, Lionel, primary, Fenech, Claire, additional, Liénard, Fabienne, additional, Grall, Sylvie, additional, Abed, Besma, additional, Haydar, Joulia, additional, Allard, Camille, additional, Desmoulins, Lucie, additional, Paccoud, Romain, additional, Brindisi, Marie-Claude, additional, Mouillot, Thomas, additional, Brondel, Laurent, additional, Fioramonti, Xavier, additional, Pénicaud, Luc, additional, Jacquin-Piques, Agnès, additional, and Leloup, Corinne, additional

Published
2023
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31. Hypothalamic Glucose Hypersensitivity-Induced Insulin Secretion in the Obese Zücker Rat Is Reversed by Central Ghrelin Treatment

Author

Lionel Carneiro, Claire Fenech, Fabienne Liénard, Sylvie Grall, Besma Abed, Joulia Haydar, Camille Allard, Lucie Desmoulins, Romain Paccoud, Marie-Claude Brindisi, Thomas Mouillot, Laurent Brondel, Xavier Fioramonti, Luc Pénicaud, Agnès Jacquin-Piques, and Corinne Leloup

Subjects
Physiology, Clinical Biochemistry, General Earth and Planetary Sciences, Cell Biology, Molecular Biology, Biochemistry, General Environmental Science
Published
2023

32. List of contributors

Author

Charfedinne Ayed, Karine Badonnel, Christine Baly, Loïc Briand, Marie-Claude Brindisi, Laurent Brondel, Francis Canon, Ilona Croy, Kees C. de Graaf, Patricia Duchamp-Viret, Gilles Feron, Ciarán G. Forde, Charalampos Georgiopoulos, Elisabeth Guichard, Antje Haehner, Remco C. Havermans, Jean-Marie Heydel, Thomas Hummel, Maria Ibarlucea-Jerez, Agnès Jacquin-Piques, Egon P. Köster, Nicola Kuczewski, Hélène Licandro, Jos Mojet, Thomas Mouillot, Jeanne Mérignac-Lacombe, Fabrice Neiers, Eric Neyraud, Sophie Nicklaus, Luc Pénicaud, Edmund T. Rolls, Anne Saint-Eve, Christian Salles, Benoist Schaal, Mathieu Schwartz, Charlotte Sinding, Richard J. Stevenson, Thierry Thomas-Danguin, Carole Tournier, and Emmy van den Heuvel

Published
2023

33. Differential Cerebral Gustatory Responses to Sucrose, Aspartame, and Stevia Using Gustatory Evoked Potentials in Humans

Author

Thomas Mouillot, Anaïs Parise, Camille Greco, Sophie Barthet, Marie-Claude Brindisi, Luc Penicaud, Corinne Leloup, Laurent Brondel, and Agnès Jacquin-Piques

Subjects
gustatory evoked potentials, sucrose, sweeteners, aspartame, stevia, Nutrition. Foods and food supply, TX341-641
Abstract

Aspartame and Stevia are widely substituted for sugar. Little is known about cerebral activation in response to low-caloric sweeteners in comparison with high-caloric sugar, whereas these molecules lead to different metabolic effects. We aimed to compare gustatory evoked potentials (GEPs) obtained in response to sucrose solution in young, healthy subjects, with GEPs obtained in response to aspartame and Stevia. Twenty healthy volunteers were randomly stimulated with three solutions of similar intensities of sweetness: Sucrose 10 g/100 mL of water, aspartame 0.05 g/100 mL, and Stevia 0.03 g/100 mL. GEPs were recorded with EEG (Electroencephalogram) electrodes. Hedonic values of each solution were evaluated using the visual analog scale (VAS). The main result was that P1 latencies of GEPs were significantly shorter when subjects were stimulated by the sucrose solution than when they were stimulated by either the aspartame or the Stevia one. P1 latencies were also significantly shorter when subjects were stimulated by the aspartame solution than the Stevia one. No significant correlation was noted between GEP parameters and hedonic values marked by VAS. Although sucrose, aspartame, and Stevia lead to the same taste perception, cerebral activation by these three sweet solutions are different according to GEPs recording. Besides differences of taste receptors and cerebral areas activated by these substances, neural plasticity, and change in synaptic connections related to sweet innate preference and sweet conditioning, could be the best hypothesis to explain the differences in cerebral gustatory processing after sucrose and sweeteners activation.

Published
2020
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34. Perception des acides gras et potentiels évoqués gustatifs : application dans l’obésité

Author

Agnès Jacquin-Piques, Thomas Mouillot, and Laurent Brondel

Subjects
0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Nutrition and Dietetics, Medicine (miscellaneous), 030209 endocrinology & metabolism, 030304 developmental biology
Abstract

Resume La detection des acides gras est une notion nouvelle importante, pouvant influencer le comportement alimentaire. Les acides gras libres pourraient activer la voie afferente gustative comme toute autre saveur primaire, ce qui a pu etre observe en enregistrant des potentiels evoques gustatifs cerebraux en reponse a des solutions d’acides gras libres. Ces nouvelles donnees pourraient avoir un impact fort dans la comprehension de la physiopathologie de l’obesite. La suralimentation dans l’obesite est en partie due a l’alteration du feedback homeostatique du statut energetique peripherique. La nourriture est un element cle de l’alimentation hedonique basee sur la recompense, qui a des consequences sur la consommation de calories et les capacites sensorielles. Dans ce contexte, la detection des acides gras, alteree selon certains auteurs dans l’obesite, ne serait qu’une consequence de l’exces de poids. Celle-ci serait essentiellement modifiee par le comportement ingestif et la composition corporelle du fait d’une alteration du systeme de recompense pour les aliments palatables, riches en energie (lipides et glucides). La prise en compte d’une alteration du systeme de recompense dans l’obesite ouvre des perspectives nouvelles quant a son diagnostic, a sa prise en charge et a son traitement.

Published
2021

36. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Author

Vezain, Myriam, primary, Thauvin-Robinet, Christel, additional, Vial, Yoann, additional, Coutant, Sophie, additional, Drunat, Séverine, additional, Urtizberea, Jon Andoni, additional, Rolland, Anne, additional, Jacquin-Piques, Agnès, additional, Fehrenbach, Séverine, additional, Nicolas, Gaël, additional, Lecoquierre, François, additional, and Saugier-Veber, Pascale, additional

Published
2022
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38. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Author

Myriam Vezain, Christel Thauvin-Robinet, Yoann Vial, Sophie Coutant, Séverine Drunat, Jon Andoni Urtizberea, Anne Rolland, Agnès Jacquin-Piques, Séverine Fehrenbach, Gaël Nicolas, François Lecoquierre, Pascale Saugier-Veber, Julien, Sabine, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Cancer and Brain Genomics (CBG), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier de Valence, Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), and Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Genetics (clinical)
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene, which produces only low amounts of full-length (FL) mRNA. Here we describe the first example of retrotransposon insertion as a pathogenic SMN1 mutational event. The 50-year-old patient is clinically affected by SMA type III with a diagnostic odyssey spanning nearly 30 years. Despite a mild disease course, he carries a single SMN2 copy. Using Exome Sequencing and Sanger sequencing, we characterized a SVA-F retrotransposon inserted in SMN1 intron 7. Using RT-PCR and RNASeq experiments on lymphoblastoid cell lines, we documented the dramatic decrease of FL transcript production in the patient compared to subjects with the same SMN1 and SMN2 copy number, thus validating the pathogenicity of this SVA insertion. We characterized the mutant FL-SMN1-SVA transcript and showed that it is subject to degradation by nonsense-mediated mRNA decay. The stability of the SMN-SVA protein may explain the mild course of the disease. This observation exemplifies the role of retrotransposons in human genetic disorders.

Published
2022

39. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Author

Saugier-Veber, Pascale, primary, Vezain, Myriam, additional, Thauvin-Robinet, Christel, additional, VIAL, Yoann, additional, Coutant, Sophie, additional, drunat, severine, additional, Urtizberea, Jon Andoni, additional, Rolland, Anne, additional, Jacquin-Piques, Agnès, additional, Fehrenbach, Séverine, additional, Nicolas, Gaël, additional, and Lecoquierre, François, additional

Published
2022
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43. Taste disorders in disease

Author

Brondel, Laurent, primary, Brindisi, Marie-Claude, additional, Jacquin-Piques, Agnès, additional, Mouillot, Thomas, additional, and Pénicaud, Luc, additional

Published
2016
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44. List of Contributors

Author

Antti, Knaapila, primary, Aydınoğlu, Nilüfer Z., additional, Baly, Christine, additional, Briand, Loïc, additional, Brindisi, Marie-Claude, additional, Brondel, Laurent, additional, Croy, Ilona, additional, Duchamp-Viret, Patricia, additional, Forde, Ciarán G., additional, Guichard, Elisabeth, additional, Haehner, Antje, additional, Havermans, Remco C., additional, Hummel, Thomas, additional, Jacquin-Piques, Agnès, additional, Köster, E.P., additional, Kuszewski, Nicola, additional, Lacroix, Marie-Christine, additional, Mari, Sandell, additional, Mojet, J., additional, Mouillot, Thomas, additional, Nicklaus, Sophie, additional, Oskar, Laaksonen, additional, Pénicaud, Luc, additional, Rolls, Edmund T., additional, Saint-Eve, Anne, additional, Salles, Christian, additional, Sayın, Eda, additional, Schaal, Benoist, additional, Sinding, Charlotte, additional, Stevenson, Richard J., additional, Thomas-Danguin, Thierry, additional, Tournier, Carole, additional, Tromelin, Anne, additional, Ulla, Hoppu, additional, and Valentin, Dominique, additional

Published
2016
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46. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Author

Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de Neurophysiologie Clinique (CHU Dijon), Equipe GAD (LNC - U1231), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Physiopathologie et épidémiologie cérébro-cardiovasculaire [Dijon] (PEC2), Université de Bourgogne (UB)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), and Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
Proband, Pediatrics, medicine.medical_specialty, Movement disorders, Neurology, Neurodegeneration with brain iron accumulation, [SDV]Life Sciences [q-bio], Encephalopathy, Neurogenetics, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Genetics, Humans, Medicine, Exome, Clinical significance, 030212 general & internal medicine, Genetic Testing, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, medicine.disease, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Nervous System Diseases, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled ‘other’) were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES. cES was performed in a proband-only (60/67) or trio (7/67) strategy depending on available samples and was analysed with an in-house pipeline including software for CNV and mitochondrial-DNA variant detection.ResultsIn 29/67 individuals, cES identified clearly pathogenic variants leading to a 43% positive yield. When performed as a first-tier test, cES identified pathogenic variants for 53% of individuals (10/19). Difficult cases were solved including double diagnoses within a kindred or identification of a neurodegeneration with brain iron accumulation in a patient with encephalopathy of suspected mitochondrial origin.ConclusionThis study shows that cES is a powerful tool for the daily practice of neurogenetics offering an efficient (43%) and appropriate approach for clinically and genetically complex and heterogeneous disorders.

Published
2021

48. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Author

Thomas, Quentin, Vitobello, Antonio, Mau-Them, Frédéric Tran, Duffourd, Yannis, Fromont, Agnès, Giroud, Maurice, Daubail, Benoit, Jacquin-Piques, Agnès, Hervieu-Begue, Marie, Moreau, Thibault, Osseby, Guy-Victor, Garret, Philippine, Nambot, Sophie, Delanne, Julian, Bruel, Ange-Line, Sorlin, Arthur, Callier, Patrick, Denomme-Pichon, Anne-Sophie, Faivre, Laurence, Béjot, Yannick, Philippe, Christophe, Thauvin-Robinet, Christelle, and Moutton, Sébastien

Published
2021
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49. High Prevalence of Social Cognition Disorders and Mild Cognitive Impairment Long Term After Stroke

Author

Ariane Piver, Yannick Béjot, Anny Graule-Petot, Bénédicte Sensenbrenner, Sophie Guillemin, Agnès Jacquin-Piques, Olivier Rouaud, Maurice Giroud, Memory Centre, Partenaires INRAE, Centre Hospitalier Universitaire Vaudois (CHUV), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), and Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Population, Neuropsychological Tests, 03 medical and health sciences, 0302 clinical medicine, Modified Rankin Scale, Social cognition, Interquartile range, Prevalence, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Neuropsychological assessment, Social Behavior, education, Stroke, Aged, Aged, 80 and over, education.field_of_study, Rehabilitation, medicine.diagnostic_test, business.industry, Age Factors, Cognition, Middle Aged, medicine.disease, 3. Good health, Psychiatry and Mental health, Clinical Psychology, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Physical therapy, Female, Geriatrics and Gerontology, Cognition Disorders, business, Gerontology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; PURPOSE: Social cognition disorders after stroke are poorly described. Yet, rehabilitation difficulties are frequent after stroke. This study aimed to evaluate the frequency of social cognition disorders 3 years after a first-ever stroke and to assess the factors associated with this condition. The second aim was to describe all the cognitive domains altered in the same population. METHODS: Patients who suffered from a first-ever ischemic or hemorrhagic stroke underwent clinical and neuropsychological assessment, which included the mini-Social cognition and Emotional Assessment (SEA) for evaluating social cognition. RESULTS: The 43 included patients were 67+/-15 years old, with a median Neurological Institute of Health Stroke Scale (NIHSS) (+/- interquartile range) at 0+/-1, and a median modified Rankin Scale (+/- interquartile range) at 1+/-1. Twenty patients (46.5%) had poor results in the facial emotions subtest; this factor was associated with a low educational grade (P=0.001). Fourteen patients (34.2%) had poor results on the "faux-pas" recognition subtest; this factor was associated with nonverbal episodic memory disorders (P=0.01). Thirty four patients (79.1%) had cognitive impairment, with at least 1 cognitive domain affected. CONCLUSIONS: The study demonstrates the high frequency of social cognition impairment 3 years after the first-ever stroke in young patients. Doctors and nurses should be sensitized to cognitive handicap after stroke because of difficulties for rehabilitation and returning to work.

Published
2019

50. Hemodialysis affects wanting and spontaneous intake of protein-rich foods in chronic kidney disease patients

Author

Yves Boirie, Anna Filancia, Luc Pénicaud, Eric Teillet, Agnès Jacquin-Piques, Marie-Claude Brindisi, Noureddine Hafnaoui, Christiane Mousson, Corinne Leloup, Laurent Brondel, Thomas Mouillot, Virginie Van Wymelbeke, Ioanna Meintani, Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Unité de Nutrition Humaine (UNH), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Clermont Auvergne (UCA), STROMALab, Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Etablissement Français du Sang-Institut National de la Santé et de la Recherche Médicale (INSERM), Grants from the Fondation Transplantation, Saint Apollinaire, France, from the Centre National de la Recherche Scientifique (CNRS), France, from the Association Bourguignonne pour le Développement de la Recherche et de la Formation en Néphrologie, Dialyse et Transplantation (NDT), Dijon, France, and from the Regional Council of Burgundy (PARI 2 Sensorialité)., Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement Français du Sang-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, medicine.medical_treatment, 030232 urology & nephrology, Medicine (miscellaneous), Physiology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Reward, Renal Dialysis, medicine, Humans, In patient, Risk factor, Renal Insufficiency, Chronic, Wasting, Dialysis, 2. Zero hunger, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, digestive, oral, and skin physiology, Healthy subjects, medicine.disease, 3. Good health, Nephrology, Hemodialysis, medicine.symptom, business, Energy Intake, Kidney disease, Hormone
Abstract

Protein-energy wasting is a risk factor for mortality and morbidity in hemodialysis patients (HD patients). Food intake could be modified by HD-related changes in the food reward system (i.e., liking and wanting of specific macronutrients). In HD patients on days with and without dialysis, we evaluated (1) the reward system for protein-, fat-, and carbohydrate-rich foods, plasma hormones, and metabolite changes; and (2) the spontaneous ad libitum intake of macronutrients.Twenty-four HD patients evaluated their liking and wanting of macronutrients at 7:30 AM and 11:30 AM on a day with and a day without dialysis. Concentrations of hormones and plasma amino acids were determined. An additional 18 HD patients ate what they wanted from a buffet lunch comprising 8 dishes on a day with and a day without dialysis. Healthy subjects, age-, sex-, and body mass index-matched, served as controls.At 11:30 AM, wanting for protein-rich foods was higher on the day with than on the day without dialysis (P .01), bringing wanting levels close to those of healthy subjects. This increase correlated with changes in the concentrations of plasma amino acids (P .01). HD patients ate more protein from the buffet on the day with than on the day without dialysis (P .01) and more than healthy subjects (P .01).In HD patients, wanting and spontaneous intake of protein-rich foods increase immediately after dialysis. This increase correlated with decreased concentrations of plasma amino acids. Thus, in clinical practice, protein-rich foods should be recommended during and after dialysis in patients with protein-energy wasting.

Published
2021

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