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7. Identification of a new factor involved in DNA methylation-mediated repression of latent HIV-1

Author

Bouchat, S., Verdikt, R., Delacourt, N., Vanhulle, C., Driessche, B., Darcis, G., Pasternak, A., Véronique Avettand-Fenoel, Ledouce, V., Bendoumou, M., Schwartz, C., Wit, S., Berkhout, B., Gautier, V., Rouzioux, C., Rohr, O., and Lint, C.

Subjects
0301 basic medicine, Genetics, Epidemiology, Immunology, Public Health, Environmental and Occupational Health, Human immunodeficiency virus (HIV), Biology, medicine.disease_cause, Microbiology, QR1-502, 03 medical and health sciences, 030104 developmental biology, Infectious Diseases, Virology, DNA methylation, medicine, Identification (biology), Public aspects of medicine, RA1-1270, Psychological repression
Published
2017

9. Identification of a new factor involved in DNA methylation-mediated repression of latent HIV-1

Author

Van Lint, C., primary, Bouchat, S., additional, Verdikt, R., additional, Van Driessche, B., additional, Pasternak, A., additional, Darcis, G., additional, Delacourt, N., additional, Vanhulle, C., additional, Avettand-fenoel, V., additional, Ledouce, V., additional, Schwartz, C., additional, Necsoi, C., additional, De Wit, S., additional, Berkhout, B., additional, Gautier, V., additional, Rouzioux, C., additional, and Rohr, O., additional

Published
2017
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10. O2 Identification of a new factor involved in DNA methylation-mediated repression of latent HIV-1

Author

Bouchat, S., primary, Verdikt, R., additional, Delacourt, N., additional, Vanhulle, C., additional, Van Driessche, B., additional, Darcis, G., additional, Pasternak, A., additional, Avettand-Fenoel, V., additional, Necsoi, C., additional, Ledouce, V., additional, Bendoumou, M., additional, Schwartz, C., additional, De Wit, S., additional, Saez-Cirion, A., additional, Berkhout, B., additional, Gautier, V., additional, Rouzioux, C., additional, Rohr, O., additional, and Van Lint, C., additional

Published
2017
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13. Gain of function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Author

Rice, Gi, Del Toro Duany, Y, Jenkinson, Em, Forte, Gm, Anderson, Bh, Ariaudo, G, Bader-Meunier, B, Baildm, Em, Battini, R, Beresford, Mw, Casarano, M, Chouchane, M, Cimaz, R, Collins, Ae, Cordeiro, Nj, Dale, Rc, Davidson, Je, Waelel, De, Desguerre, I, Faivre, L, Fazzi, E, Isidor, B, Lagae, L, Larchman, Ar, Lebon, P, Li, C, Livingston, Jh, Lourenço, Cm, Mancardi, Mm, Masurel-Paulet, A, Mcinnes, Ib, Menezes, Mp, Mignot, C, O'Sullivan, J, Orcesi, S, Picco, Pp, Riva, E, Robinson, Ra, Rodriguez, D, Salvatici, E, Scott, C, Szybowska, M, Tolmie, Jl, Vanderver, A, Vanhulle, C, Vieira, Jp, Webb, K, Whitney, Rn, Williams, Sg, Wolfe, La, Zuberi, Sm, Hur, S, and Crow, Yj

Published
2014

14. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype

Author

Servais, L, Montus, M, Le Guiner, C, Ben Yaou, R, Annoussamya, M, Moraux, A, Hogrel, J-Y, Seferian, A M, Zehrouni, K, Lo Moing, A-G, Gidaro, T, Vanhulle, C, Laugel, V, Butoianu, N, Cuisset, J-M, Sabouraud, P, Cances, C, Klein, A, Leturcq, F, Moullier, P, Voit, T, Servais, L, Montus, M, Le Guiner, C, Ben Yaou, R, Annoussamya, M, Moraux, A, Hogrel, J-Y, Seferian, A M, Zehrouni, K, Lo Moing, A-G, Gidaro, T, Vanhulle, C, Laugel, V, Butoianu, N, Cuisset, J-M, Sabouraud, P, Cances, C, Klein, A, Leturcq, F, Moullier, P, and Voit, T

Abstract

Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population. Objectives: Our objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations. Methods: We first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53). Results: We found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab. Conclusions: These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.

Published
2015

15. Sequential treatment with 5-aza-2′deoxycitidine and deacetylase inhibitors reactivates HIV

Author

Van Lint, C., primary, Bouchat, S., additional, Delacourt, N., additional, Kula, A., additional, Darcis, G., additional, Corazza, F., additional, Gatot, J.S., additional, Melard, A., additional, Vanhulle, C., additional, Van Driessche, B., additional, Kabeya, K., additional, Pardons, M., additional, Avettand-Fenoel, V., additional, Clumeck, N., additional, De Wit, S., additional, Rohr, O., additional, and Rouzioux, C., additional

Published
2015
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21. Pilocytic astrocytoma of the optic pathway: a tumour deriving from radial glia cells with a specific gene signature

Author

Tchoghandjian, A., primary, Fernandez, C., additional, Colin, C., additional, El Ayachi, I., additional, Voutsinos-Porche, B., additional, Fina, F., additional, Scavarda, D., additional, Piercecchi-Marti, M.-D., additional, Intagliata, D., additional, Ouafik, L., additional, Fraslon-Vanhulle, C., additional, and Figarella-Branger, D., additional

Published
2009
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32. THERAPEUTIC AND NUTRITIONAL EFFECT OF AN ORAL REHYDRATION SOLUTION (ORS) CONTAINING GLUTAMINE. A DOUBLE BLIND RANDOMISED STUDY IN 44 DIARRHEIC INFANTS.

Author

Mouterde, O., primary, Mallet, E., additional, Vanhulle, C., additional, Chauvière, G., additional, Hévin, B., additional, Meunier, M., additional, Lenaerts, C., additional, Ginies, J. L., additional, Claeyssens, S., additional, Heckettsweiler, B., additional, and Basuyau, J. P., additional

Published
1997
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40. Syngeneic Adoptive Transfer of Anti-Human Immunodeficiency Virus-1 (HIV-l)-Primed Lymphocytes From a Vaccinated HIV-Seronegative Individual to His HIV-1-Infected Identical Twin

Author

Bex, F., Hermans, P., Sprecher, S., Achour, A., Badjou, R., Desgranges, C., Cogniaux, J., Franchioli, P., Vanhulle, C., Lachgar, A., Stryckmans, P., Zagury, D., Burny, A., and Clumeck, N.

Abstract

Immunotherapy by adoptive transfer of lymphocytes was attempted in identical twins, one who was virus-free and the other who was infected with human immunodeficiency virus-1 (HIV-1), at the stage of acquired immunodeficiency syndrome. The noninfected twin was vaccinated by priming with a recombinant vaccinia virus expressing the envelope glycoprotein of one of his brother’s viruses and boosting with the same purified gp160 adsorbed on alum. Vaccination elicited major histocompatibility complex class I-restricted CD8+cytolytic T lymphocytes specific for HIV-1, but no antibody response. The diseased brother, a 38-year-old homosexual who had developed repeated opportunistic infections since 1990 and had a CD4+count reduced to practically zero, was treated by infusions of lymphocytes collected from the vaccinated brother by lymphopheresis. After a first transfer of the whole lymphocyte population, no changes were observed in the clinical status and biologic or virologic parameters. A second transfer was then applied with activation of the cells with purified envelope glycoprotein before infusion. The outcome of the treatment was an increase in total lymphocytes, in CD4+and activated CD8+DR+cell counts, and in proliferative responses to HIV antigens. A marked but transient 3-log increase in cellular and plasmatic virus loads was also observed after the second adoptive transfer. These observations will be considered with attention to improve the future adoptive transfer protocols, especially in patients with severe CD4+depletion.

Published
1994
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41. Epilepsies and time to diagnosis

Author

Cachera, C., Baulac, M., Fagnani, F., Jallon, P., Leveau, J., Loiseau, P., Motte, J., Thomas, P., Vallee, L., Allaire, C., Autret, A., Baldy-Moulinier, M., Clanet, M., Dordain, G., Gastaut, J. L., Giroud, M., Josien, E., Marescaux, C., Masnou, P., Mauguiere, F., Parain, D., Perret, J., Revol, M., Rumbach, L., Tapie, P., Weber, M., Adam, C., Attal, N., Attane, F., Aubrun, P., Ayrivie, N., Badinand-Hubert, N., Bapst-Reiter, J., Barthez-Carpentier, M. A., Bartolomei, F., Bataillard, M., Bednarek, N., Belair, C., Benazet, M., Berges, S., Bergouignan, F. X., Bernard, C., Bernard-Bourzeix, L., Bertran, F., Bertrand, P., Beuriat, P., Billard, C., Bille-Turc, F., Billy, C., Biraben, A., Blanc, A., Boidein, F., Bouayed, N., Boudon, S., Bouillat, J., Boulloche, J., Bredin, A., Brocard, O., Brosset, P., Brunet-Bourgin, F., Cenraud, B., Chaigne, D., Chaix, Y., Chaunu, M. P., Chavot, D., Clavelou, P., Cohadon, S., Collombier, N., Contis, P. E., Convers, P., Couchot, J., Cournelle, M. A., Courtois, S., Croguennec, J. M., Cuisset, J. M., Cuvellier, J. C., D Anglejan, J., Damon, G., Danielli, A., Daubney, P., Bellescize, J., Lumley, L., Recondo, A., Swarte, M., Deffond, D., Delangre, T., Delisse, B., Derambure, P., Derambure, S., Desbordes, P., Desfrancois, F., Destee-Warot, M., Dien, J., Doremus, B., Dourneau-Lethiecq, M. C., Dubois, F., Duche, B., Ducrocq, X., Duhurt, J., Duprey, J., Durand, G., Dusser, A., Escaillas, J. P., Fanjaud, G., Felten, D., Fischer, C., Fontan, D., Formosa, F., Foulon, E., Furby, A., Gallet, S., Galmiche, J., Garde-Arthaud, P., Garrel, S., Gaultier, C., Gauthier, C., Gauthier-Morel, D., Genton, P., Geraud, G., Girard, J. P., Girard-Madoux, M., Gonnaud, P., Goulon-Goeau, C., Gros, S., Grosclaude, M., Gross, M., Gueguen, B., Guinot, H., Haenggeli, C. A., Hamon, J. B., Henlin, J. L., Hevin, B., Hinault, P., Homeyer, P., Hommet, C., Huart, E., Huc, P., Huttin, B., Inglesiakis, L., Isnard, J., Isnard, H., Jogeix, M., Juhel, C., Kahane, P., Kalafat, M., Keo-Kosal, P., Kreib, A. M., Kubler, C., Larrieu, E., Larrieu, J. L., Latinville, D., Le Gallou-Wittenberg, A., Lebas, F., Lebrun-Grandie, P., Leche, J., Legout, A., Legrand, S., Legroux, M., Lemaitre, J. F., Lestavel, P., Levasseur, M., Lienhard, C., Livet, M. O., Louiset, P., Lubeau, M., Lucas, B., Lucas-Daviaud, J., Maillard, S., Maillet-Vioud, M., Mancini, J., Mann, M., Marchal, C., Martini, L., Maupetit, J., Maynard, R., Menage, P., Menard, D., Metreau, R., Milor, M., Minot-Myhie, M. C., Moene, Y., Montagne, B., Montelescaut, M. E., Moreaud, O., Noelle, B., Olmi, X., Orbegozo, J., Ouvrard-Hernandez, A. M., Parsa, A., Pautrizel, B., Pedespan, J. M., Pernes, P., Perrouty, B., Petit, J., Peudenier, S., Picard, A. M., Pierrot-Deseilligny, C., Planque, E., Portha, C., Preux, P. M., Prud Homme, M., Raybaut-Guilhem, D., Rebaud, P., Regi, A., Regi, J. L., Reis, J., Rejou, F., Remy, C., Renard, J. F., Revenu, M., Revol, A., Rey, M., Richelme, C., Ricou, P., Rigal, J. P., Rogez, R., Rousselle, C., Rummens, C., Philippe Ryvlin, Sabouraud, P., Saikali, I., Saudeau, D., Savet, J. F., Schaeffer, J. L., Schaff, J. L., Schoenfelder, F., Schuermans, P., Senant, J., Setiey, A., Sevrin, C., Sivelle, G., Soisson, T., Soubielle, P., Soulages, X., Soulayrol, S., Tabaraud, F., Taillandier, P., Tannier, C., Tarel, V., Taussig, D., Thedrez, F., Tournier, C. L., Turc, J. D., Vanhulle, C., Vaunaize, J., Verier, A., Vernay, D., Visy, J. M., Vongsouthi, C., Vrigneaud, J., Waubant, E., Weichlein, A., Weill, O., Zai, L., Ziegler, F., Zix, C., Zelicourt, M., and Grp, Carole

42. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Author

Antonio, M., Dogan, C., Eymard, B., Puymirat, J., Mathieu, J., Gagnon, C., Attarian, S., Ac Aube-Nathier, Audic, F., Bach, N., Barnerias, C., Al Bedat-Millet, Behin, A., Bellance, R., Rabah BEN YAOU, Bombard, V., Bouhour, F., Boutte, C., Boyer, F., Cances, C., Chabrol, B., Jb Chanson, Chapon, F., Chasseriau, R., Cintas, P., Am Cobo, Colombert, V., Mc Cruz, Jm Cuisset, Deschamps, R., Desguerre, I., Durigneux, J., Duval, F., Espil, C., Fafin, C., Feasson, L., Fradin, M., Furby, A., Goldenberg, A., Grotto, S., Ghorab, K., Guyant-Marechal, L., Heron, D., Isapof, A., Jacquin-Piques, A., Journel, H., Laforet, P., Lagrue, E., Laroche-Raynaud, C., Laugel, V., Lebeau, F., Magot, A., Manel, V., Mayer, M., Mercier, S., Menard, D., Michaud, M., Mc Minot, Rj Morales, Nadaj-Pakleza, A., Jb Noury, Pasquier, L., Pellieux, S., Pereon, Y., Perrier, J., Peudenier, S., Preudhomme, M., Pouget, J., Quijano-Roy, S., Ragot-Mandry, S., Richelme, C., Rivier, F., Sabouraud, P., Sacconi, S., Salort-Campana, E., Sarret, C., Schaeffer, S., Sole, G., Stojkovic, T., Taithe, F., Testard, H., Tiffereau, V., Urtizberea, A., Vanhulle, C., Vial, C., Walther-Louvier, U., Zagnoli, F., Hamroun, D., Bassez, G., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de Recherches du Service de Santé des Armées (CRSSA), Service de Santé des Armées, Energy Storage and Conversion, Research Institute of Hydro-Québec, Energy Storage and Conversion, Hôpital de la Timone [CHU - APHM] (TIMONE), Department of Medicine, Icahn School of Medicine at Mount Sinai [New York] (MSSM), INVENTAIRE FORESTIER NATIONAL CAEN, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Centre de référence Caribéen pour les maladies neuromusculaires (CeRCa), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France]-CHU de la Martinique [Fort de France], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de compétences pathologies neuromusculaires [CHU Caen], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5), Université d'Angers (UA), Institut de Recherche en Systèmes Electroniques Embarqués (IRSEEM), Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-École Supérieure d’Ingénieurs en Génie Électrique (ESIGELEC)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience; Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously.Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials.Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

43. Syngeneic adoptive transfer of anti-human immunodeficiency virus-1 (HIV-1)-primed lymphocytes from a vaccinated HIV-seronegative individual to his HIV-1 infected identical twin

Author

Bex, F., Hermans, P., Sprecher, S., Achour, A., Badjou, R., Desgranges, C., Cogniaux, J., Franchioli, P., Vanhulle, C., Lachgar, A., Stryckmans, P., Zagury, D., Burny, A., and Clumeck, N.

Subjects
HIV infection -- Care and treatment, Immunotherapy -- Usage, AIDS vaccines -- Usage
Abstract

According to the authors' abstract of an article published in Blood, "Immunotherapy by adoptive transfer of lymphocytes was attempted in identical twins, one who was virus-free and the other who [...]

Published
1994

44. DNA cytosine methylation in the Bovine Leukemia Virus promoter is associated with latency in a Lymphoma-derived B-cell line : potential involvement of direct inhibition of CREB/CREM/ATF binding

Author

Van Lint Carine, Rohr Olivier, Hirsch Ivan, Burny Arsène, Portetelle Daniel, Kettmann Richard, Twizere Jean-Claude, Nuttinck Michèle, Merimi Makram, Cardona Christelle, Blazkova Jana, Vanhulle Caroline, Guiguen Allan, Colin Laurence, and Van Driessche Benoit

Subjects
Immunologic diseases. Allergy, RC581-607
Published
2011
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48. Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Author

Desguerre I, Barrois R, Audic F, Barnerias C, Chabrol B, Davion JB, Durigneux J, Espil-Taris C, Gomez-Garcia de la Banda M, Guichard M, Isapof A, Nougues MC, Laugel V, Le Goff L, Mercier S, Pervillé A, Richelme C, Thibaud M, Sarret C, Schweitzer C, Testard H, Trommsdorff V, Vanhulle C, Walther-Louvier U, Altuzarra C, Chouchane M, Ropars J, Quijano-Roy S, and Cances C

Subjects
Humans, Female, Male, Infant, Biological Products therapeutic use, France, Cohort Studies, Genetic Therapy, Treatment Outcome, Prospective Studies, Recombinant Fusion Proteins, Spinal Muscular Atrophies of Childhood drug therapy, Spinal Muscular Atrophies of Childhood therapy
Abstract

Background: Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene transfer therapy (GT) has changed the natural history of SMA1, but real-world data are scarce., Methods: A French national expert committee identified 95 newly diagnosed treatment-naive SMA1 patients between June 2019 and June 2022. We prospectively report on children treated with GT as the first and only therapy who had more than one-year of follow-up., Results: Forty-six SMA1 patients received GT. Twelve patients received other treatments. Patients with respiratory insufficiency were oriented toward palliative care after discussion with families. Twenty-nine of the treated patients with more than 12 months of follow-up were included in the follow-up analysis. Among them, 17 had 24 months of follow-up. The mean age at treatment was 7.5 (2.1-12.5) months. Twenty-two patients had two SMN2 copies, and seven had three copies. One infant died in the month following GT due to severe thrombotic microangiopathy, and another died due to respiratory distress. Among the 17 patients with 24 months of follow-up, 90% required spinal bracing (15/17), three patients required nocturnal noninvasive ventilation, and two needed gastrostomy. Concerning motor milestones at the 24-month follow-up, all patients held their head, 15/17 sat for 30 s unassisted, and 12/17 stood with aid. Motor scores (CHOPINTEND and HINE-2) and thoracic circumference significantly improved in all patients., Conclusions: Our study shows favorable motor outcomes and preserved respiratory and feeding functions in treatment-naive SMA1 infants treated by GT as the first and only therapy before respiratory and bulbar dysfunctions occurred. Nevertheless, almost all patients developed spinal deformities., (© 2024. The Author(s).)

Published
2024
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49. Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.

Author

Chan YH, Liu Z, Bastard P, Khobrekar N, Hutchison KM, Yamazaki Y, Fan Q, Matuozzo D, Harschnitz O, Kerrouche N, Nakajima K, Amin P, Yatim A, Rinchai D, Chen J, Zhang P, Ciceri G, Chen J, Dobbs K, Belkaya S, Lee D, Gervais A, Aydın K, Kartal A, Hasek ML, Zhao S, Reino EG, Lee YS, Seeleuthner Y, Chaldebas M, Bailey R, Vanhulle C, Lorenzo L, Boucherit S, Rozenberg F, Marr N, Mogensen TH, Aubart M, Cobat A, Dulac O, Emiroglu M, Paludan SR, Abel L, Notarangelo L, Longnecker R, Smith G, Studer L, Casanova JL, and Zhang SY

Subjects
Animals, Female, Humans, Male, Homozygote, Interferon Type I metabolism, Interferon Type I immunology, Nectins genetics, Nectins metabolism, Neurons cytology, Neurons metabolism, Neurons virology, Pluripotent Stem Cells cytology, Virus Replication, Child, Preschool, Young Adult, Pedigree, Brain cytology, Brain metabolism, Brain virology, Encephalitis, Herpes Simplex virology, Encephalitis, Herpes Simplex metabolism, Herpesvirus 1, Human pathogenicity, Herpesvirus 1, Human physiology, Membrane Proteins deficiency, Membrane Proteins genetics, Membrane Proteins metabolism, Virus Internalization
Abstract

Most cases of herpes simplex virus 1 (HSV-1) encephalitis (HSE) remain unexplained 1,2 . Here, we report on two unrelated people who had HSE as children and are homozygous for rare deleterious variants of TMEFF1, which encodes a cell membrane protein that is preferentially expressed by brain cortical neurons. TMEFF1 interacts with the cell-surface HSV-1 receptor NECTIN-1, impairing HSV-1 glycoprotein D- and NECTIN-1-mediated fusion of the virus and the cell membrane, blocking viral entry. Genetic TMEFF1 deficiency allows HSV-1 to rapidly enter cortical neurons that are either patient specific or derived from CRISPR-Cas9-engineered human pluripotent stem cells, thereby enhancing HSV-1 translocation to the nucleus and subsequent replication. This cellular phenotype can be rescued by pretreatment with type I interferon (IFN) or the expression of exogenous wild-type TMEFF1. Moreover, ectopic expression of full-length TMEFF1 or its amino-terminal extracellular domain, but not its carboxy-terminal intracellular domain, impairs HSV-1 entry into NECTIN-1-expressing cells other than neurons, increasing their resistance to HSV-1 infection. Human TMEFF1 is therefore a host restriction factor for HSV-1 entry into cortical neurons. Its constitutively high abundance in cortical neurons protects these cells from HSV-1 infection, whereas inherited TMEFF1 deficiency renders them susceptible to this virus and can therefore underlie HSE., (© 2024. The Author(s).)

Published
2024
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50. Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Author

Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, and Chabrol B

Subjects
Humans, Child, Infant, Follow-Up Studies, Retrospective Studies, Enzyme Replacement Therapy adverse effects, Enzyme Replacement Therapy methods, Glycogen Storage Disease Type II drug therapy, Cardiomyopathies
Abstract

Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes., Methods: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020., Results: Sixty-four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty-seven (58%) patients died during follow-up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3 years of life and after the age of 12 years. Persistence of cardiomyopathy during follow-up and/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross-reactive immunologic material (CRIM)-negative status (n = 16, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6 years, with a progressive decline in motor and pulmonary functions for most survivors., Conclusions: This study reports the long-term follow-up of one of the largest cohorts of classical IOPD patients and demonstrates high long-term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2023
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