44 results on '"Solé G"'
Search Results
2. Onchocerca volvulus DNA Probe Classification Correlates with Epidemiologic Patterns of Blindness
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Zimmerman, P. A., Dadzie, K. Y., De Sole, G., Remme, J., Alley, E. Soumbey, and Unnasch, T. R.
- Published
- 1992
3. Maggots Dyed With Chrysoidine: A Possible Risk To Anglers
- Author
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Sole, G. M.
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- 1984
4. Hypnotherapy For Incontinence Caused By The Unstable Detrusor
- Author
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Sole, G. M., de Bolla, A., and Arkell, D. G.
- Published
- 1982
5. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
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Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Association française contre les myopathies ( AFM-Téléthon ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), GENETHON, Genethon, DHUI2B, CHU Pitié-Salpêtrière [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 [UPMC], CHU Necker - Enfants Malades [AP-HP], Hôpital Cochin [AP-HP], Hôpital Henri Mondor, CHU Rouen, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Centre Hospitalier Universitaire de Reims [CHU Reims], CHU de Bordeaux Pellegrin [Bordeaux], CHU Caen, Centre d'investigation clinique de Toulouse [CIC 1436], Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] [CHU ST-E], CHU Montpellier, CHU Bordeaux [Bordeaux], Hôpital de l'Hôtel Dieu [CHU-HCL], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Centre hospitalier universitaire de Nantes [CHU Nantes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers [CHU Angers], Hôpital Raymond Poincaré [AP-HP], Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours [CHRU Tours], Centre Hospitalier Universitaire de Nice [CHU Nice], Hôpital de la Timone [CHU - APHM] [TIMONE], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Hôpital d'Instruction des Armées Clermont Tonnerre, Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), and HAL UPMC, Gestionnaire
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0301 basic medicine ,Adult ,Male ,Chemokine ,congenital, hereditary, and neonatal diseases and abnormalities ,[SDV.IMM] Life Sciences [q-bio]/Immunology ,T cell ,T-Lymphocytes ,Antibodies ,Article ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Medicine ,[ SDV.IMM ] Life Sciences [q-bio]/Immunology ,Humans ,Enzyme Replacement Therapy ,Age of Onset ,Aged ,[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,Multidisciplinary ,biology ,business.industry ,Glycogen Storage Disease Type II ,Immunogenicity ,Case-control study ,Antibody titer ,nutritional and metabolic diseases ,alpha-Glucosidases ,Enzyme replacement therapy ,Dendritic Cells ,[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,Middle Aged ,[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,3. Good health ,030104 developmental biology ,medicine.anatomical_structure ,Treatment Outcome ,Case-Control Studies ,Immunoglobulin G ,Immunology ,biology.protein ,Interleukin-2 ,[SDV.IMM]Life Sciences [q-bio]/Immunology ,Female ,Antibody ,business ,030217 neurology & neurosurgery - Abstract
Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed. In treated LOPD patients, anti-rhGAA antibodies peaked within the first 1000 days of ERT, while long-term exposure to rhGAA resulted in clearance of antibodies with residual production of non-neutralizing IgG. Analysis of T cell responses to rhGAA showed detectable T cell reactivity only after in vitro restimulation. Upregulation of several cytokines and chemokines was detectable in both treated and untreated LOPD subjects, while IL2 secretion was detectable only in subjects who received ERT. These results indicate that long-term ERT in LOPD patients results in a decrease in antibody titers and residual production of non-inhibitory IgGs. Immune responses to GAA following long-term ERT do not seem to affect efficacy of ERT and are consistent with an immunomodulatory effect possibly mediated by regulatory T cells.
- Published
- 2016
6. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
- Author
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Oestergaard, S.T., primary, Stojkovic, T., additional, Dahlqvist, J.R., additional, Bouchet-Seraphin, C., additional, Nectoux, J., additional, Leturcq, F., additional, Cossée, M., additional, Solé, G., additional, Thomsen, C., additional, Krag, T.O., additional, and Vissing, J., additional
- Published
- 2016
- Full Text
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7. Population trends and survival of nesting green sea turtles Chelonia mydas on Aves Island, Venezuela
- Author
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García-Cruz, MA, primary, Lampo, M, additional, Peñaloza, CL, additional, Kendall, WL, additional, Solé, G, additional, and Rodríguez-Clark, KM, additional
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- 2015
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8. La Conferencia de Pekín
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Solé, G. (Gloria)
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Conferencia ,Pekín - Published
- 1996
9. Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease
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Edmund C. Lee, Tania Valencia, Charles Allerson, Annelie Schairer, Andrea Flaten, Matanel Yheskel, Kara Kersjes, Jian Li, Sole Gatto, Mandeep Takhar, Steven Lockton, Adam Pavlicek, Michael Kim, Tiffany Chu, Randy Soriano, Scott Davis, John R. Androsavich, Salma Sarwary, Tate Owen, Julia Kaplan, Kai Liu, Graham Jang, Steven Neben, Philip Bentley, Timothy Wright, and Vishal Patel
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Science - Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a leading genetic cause of end-stage renal disease with limited treatment options. Here the authors discover and characterize a microRNA inhibitor as a potential treatment for ADPKD.
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- 2019
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10. Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD
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Anna M.L. Coenen-Stass, Helena Sork, Sole Gatto, Caroline Godfrey, Amarjit Bhomra, Kaarel Krjutškov, Jonathan R. Hart, Jakub O. Westholm, Liz O’Donovan, Andreas Roos, Hanns Lochmüller, Pier Lorenzo Puri, Samir EL Andaloussi, Matthew J.A. Wood, and Thomas C. Roberts
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Therapeutics. Pharmacology ,RM1-950 - Abstract
Extracellular small RNAs (sRNAs), including microRNAs (miRNAs), are promising biomarkers for diseases such as Duchenne muscular dystrophy (DMD), although their biological relevance is largely unknown. To investigate the relationship between intracellular and extracellular sRNA levels on a global scale, we performed sRNA sequencing in four muscle types and serum from wild-type, dystrophic mdx, and mdx mice in which dystrophin protein expression was restored by exon skipping. Differentially abundant sRNAs were identified in serum (mapping to miRNA, small nuclear RNA [snRNA], and PIWI-interacting RNA [piRNA] loci). One novel candidate biomarker, miR-483, was increased in both mdx serum and muscle, and also elevated in DMD patient sera. Dystrophin restoration induced global shifts in miRNA (including miR-483) and snRNA-fragment abundance toward wild-type levels. Specific serum piRNA-like sRNAs also responded to exon skipping therapy. Absolute miRNA expression in muscle was positively correlated with abundance in the circulation, although multiple highly expressed miRNAs in muscle were not elevated in mdx serum, suggesting that both passive and selective release mechanisms contribute to serum miRNA levels. In conclusion, this study has revealed new insights into the sRNA biology of dystrophin deficiency and identified novel DMD biomarkers. Keywords: small RNA sequencing, microRNA, piRNA, Duchenne muscular dystrophy, extracellular miRNA
- Published
- 2018
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11. Dynamics of cellular states of fibro-adipogenic progenitors during myogenesis and muscular dystrophy
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Barbora Malecova, Sole Gatto, Usue Etxaniz, Magda Passafaro, Amy Cortez, Chiara Nicoletti, Lorenzo Giordani, Alessio Torcinaro, Marco De Bardi, Silvio Bicciato, Francesca De Santa, Luca Madaro, and Pier Lorenzo Puri
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Science - Abstract
Fibro-adipogenic progenitors (FAPs) resident in skeletal muscle are involved in both regeneration and maladaptive processes. Here, the authors identify subpopulations of FAPs with biological activities implicated in physiological muscle repair that are altered in pathological conditions such as muscular dystrophies.
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- 2018
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12. Long Term Follow Up of Plasma Kinetic Turp
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Nayar, C., Lloyd-Hughes, R., and Sole, G.
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- 2010
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13. Muscle-relevant genes marked by stable H3K4me2/3 profiles and enriched MyoD binding during myogenic differentiation.
- Author
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Huanhuan Cui, Vikas Bansal, Marcel Grunert, Barbora Malecova, Alessandra Dall'Agnese, Lucia Latella, Sole Gatto, Tammy Ryan, Kerstin Schulz, Wei Chen, Cornelia Dorn, Pier Lorenzo Puri, and Silke R Sperling
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Medicine ,Science - Abstract
Post-translational modifications of histones play a key role in the regulation of gene expression during development and differentiation. Numerous studies have shown the dynamics of combinatorial regulation by transcription factors and histone modifications, in the sense that different combinations lead to distinct expression outcomes. Here, we investigated gene regulation by stable enrichment patterns of histone marks H3K4me2 and H3K4me3 in combination with the chromatin binding of the muscle tissue-specific transcription factor MyoD during myogenic differentiation of C2C12 cells. Using k-means clustering, we found that specific combinations of H3K4me2/3 profiles over and towards the gene body impact on gene expression and marks a subset of genes important for muscle development and differentiation. By further analysis, we found that the muscle key regulator MyoD was significantly enriched on this subset of genes and played a repressive role during myogenic differentiation. Among these genes, we identified the pluripotency gene Patz1, which is repressed during myogenic differentiation through direct binding of MyoD to promoter elements. These results point to the importance of integrating histone modifications and MyoD chromatin binding for coordinated gene activation and repression during myogenic differentiation.
- Published
- 2017
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14. TBP/TFIID-dependent activation of MyoD target genes in skeletal muscle cells
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Barbora Malecova, Alessandra Dall'Agnese, Luca Madaro, Sole Gatto, Paula Coutinho Toto, Sonia Albini, Tammy Ryan, Làszlò Tora, and Pier Lorenzo Puri
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muscle differentiation ,muscle regeneration ,transcription ,myoD ,TBP ,TFIID ,Medicine ,Science ,Biology (General) ,QH301-705.5 - Abstract
Change in the identity of the components of the transcription pre-initiation complex is proposed to control cell type-specific gene expression. Replacement of the canonical TFIID-TBP complex with TRF3/TBP2 was reported to be required for activation of muscle-gene expression. The lack of a developmental phenotype in TBP2 null mice prompted further analysis to determine whether TBP2 deficiency can compromise adult myogenesis. We show here that TBP2 null mice have an intact regeneration potential upon injury and that TBP2 is not expressed in established C2C12 muscle cell or in primary mouse MuSCs. While TFIID subunits and TBP are downregulated during myoblast differentiation, reduced amounts of these proteins form a complex that is detectable on promoters of muscle genes and is essential for their expression. This evidence demonstrates that TBP2 does not replace TBP during muscle differentiation, as previously proposed, with limiting amounts of TFIID-TBP being required to promote muscle-specific gene expression.
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- 2016
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15. The value of some Corsican sub-populations for genetic association studies
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Vona Giuseppe, Varesi Laurent, Sole Gabriella, Latini Veronica, and Ristaldi Maria
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Genetic isolates with a history of a small founder population, long-lasting isolation and population bottlenecks represent exceptional resources in the identification of disease genes. In these populations the disease allele reveals Linkage Disequilibrium (LD) with markers over significant genetic intervals, therefore facilitating disease locus identification. In a previous study we examined the LD extension on the Xq13 region in three Corsican sub-populations from the inner mountainous region of the island. On the basis of those previous results we have proposed a multistep procedure to carry out studies aimed at the identification of genes involved in complex diseases in Corsica. A prerequisite to carry out the proposed multi-step procedure was the presence of different degrees of LD on the island and a common genetic derivation of the different Corsican sub-populations. In order to evaluate the existence of these conditions in the present paper we extended the analysis to the Corsican coastal populations. Methods Samples were analyzed using seven dinucleotide microsatellite markers on chromosome Xq13-21: DXS983, DXS986, DXS8092, DXS8082, DXS1225, DXS8037 and DXS995 spanning approximately 4.0 cM (13.3 Mb). We have also investigated the distribution of the DXS1225-DXS8082 haplotype which has been recently proposed as a good marker of population genetic history due to its low recombination rate. Results the results obtained indicate a decrease of LD on the island from the central mountainous toward the coastal sub-populations. In addition the analysis of the DXS1225-DXS8082 haplotype revealed: 1) the presence of a particular haplotype with high frequency; 2) the derivation from a common genetic pool of the sub-populations examined in the present study. Conclusion These results indicate the Corsican sub-populations useful for the fine mapping of genes contributing to complex diseases.
- Published
- 2008
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16. Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
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Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, and Laforêt P
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- Humans, Male, Female, France epidemiology, Middle Aged, Adult, Aged, Quality of Life, Surveys and Questionnaires, Glycogen Storage Disease Type II complications, Glycogen Storage Disease Type II epidemiology, Glycogen Storage Disease Type II physiopathology, Registries, Deglutition Disorders etiology, Deglutition Disorders physiopathology, Deglutition Disorders epidemiology
- Abstract
Background and Purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life., Methods: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score., Results: Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047)., Conclusions: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed., (© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2024
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17. [Improving quality of life in older adults with the decline syndrome: The role of occupational therapy in primary care].
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Riera Arias G, Serra Corcoll J, Casadevall Arnaus M, Vidal-Alaball J, Ramírez-Morros A, and Arnau Solé G
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- Humans, Female, Male, Aged, Longitudinal Studies, Activities of Daily Living, Syndrome, Aged, 80 and over, Occupational Therapy methods, Primary Health Care, Quality of Life
- Abstract
Objective: To evaluate the effect of an occupational therapy intervention in users recently diagnosed with the decline syndrome, who have experienced a decrease in the Barthel and/or Lawton index in the last month and susceptible to improvement based on medical opinion., Design: Non-controlled, quasi-experimental longitudinal study. A pre-post intervention., Location: Sant Hipòlit de Voltregà health centre. Osona, Barcelona., Participants: Patients referred by the centre's primary care nursing, social work or medical staff with a recent diagnosis of decline syndrome who may benefit from the intervention of an occupational therapy professional., Intervention: Following the initial assessment visit, four training sessions were conducted to improve functional independence, mobility and adaptation of the home environment, providing training to primary caregivers., Main Measurements: Patient autonomy was assessed using the Barthel and Lawton scales, quality of life using the EuroQol questionnaire (EQ-5D) and home suitability using the home suitability assessment questionnaire., Results: Improvements were observed in autonomy in activities of daily living (p=0.003), mobility (p=0.001) and housing adaptation (p<0.001). The level of anxiety/depression was reduced (p=0.028), and the mean health status score increased markedly (p<0.001)., Conclusions: This study highlights the improvement in the quality of life and autonomy in the basic activities of daily living for individuals receiving occupational therapy, emphasizing the need for home adaptation and family support., (Copyright © 2024 The Author(s). Publicado por Elsevier España S.L.U. All rights reserved.)
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- 2024
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18. Titin copy number variations associated with dominant inherited phenotypes.
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Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, and Cossée M
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- Humans, Connectin genetics, DNA Copy Number Variations genetics, Muscle, Skeletal pathology, Mutation genetics, Phenotype, Distal Myopathies genetics
- Abstract
Background: Titinopathies are caused by mutations in the titin gene ( TTN ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of onset of symptoms, the great diversity of pathological and muscular impairment patterns (cardiac, skeletal muscle or mixed) and both autosomal dominant and recessive modes of transmission. Until now, only few CNVs in TTN have been reported without clear genotype-phenotype associations., Methods: Our study includes eight families with dominant titinopathies. We performed next-generation sequencing or comparative genomic hybridisation array analyses and found CNVs in the TTN gene. We characterised these CNVs by RNA sequencing (RNAseq) analyses in six patients' muscles and performed genotype-phenotype inheritance association study by combining the clinical and biological data of these eight families., Results: Seven deletion-type CNVs in the TTN gene were identified among these families. Genotype and RNAseq results showed that five deletions do not alter the reading frame and one is out-of-reading frame. The main phenotype identified was distal myopathy associated with contractures. The analysis of morphological, clinical and genetic data and imaging let us draw new genotype-phenotype associations of titinopathies., Conclusion: Identifying TTN CNVs will further increase diagnostic sensitivity in these complex neuromuscular pathologies. Our cohort of patients enabled us to identify new deletion-type CNVs in the TTN gene, with unexpected autosomal dominant transmission. This is valuable in establishing new genotype-phenotype associations of titinopathies, mainly distal myopathy in most of the patients., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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19. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
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Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, and Cintas P
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- Adult, Child, Humans, Azo Compounds, Patient Care Team, Muscular Atrophy, Spinal therapy, Spinal Muscular Atrophies of Childhood, Pyrimidines
- 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 χ
2 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 < 0.0001), with greater disease severity in terms of motor and respiratory function compared to requests for nusinersen. In the year prior to presentation to the SMDTs, most of the patients experienced worsening of motor weakness assessed by functional tests as MFM32 or other meaningful scales for the most severe patients. Only 12% of the patients discussed had a stable condition. Only 49/122 patients (40.1%) expressed clear expectations regarding treatment. The treatment requested was approved by the SMDTs in 72 patients (67.2%). The most common reasons to decline treatment were lack of objective data on the disease course prior discussion to the SMDTs or inappropriate patient's expectations. Treatment requests were more likely to be validated by the SMDTs if sufficient pre-therapeutic functional assessment had been performed to assess the natural history (55% vs. 32%) and if the patient had worsening rather than stable motor function (p = 0.029). In patients with approved treatment, a-priori criteria to define a further ineffectiveness of treatment (usually after 14 months of treatment) were proposed for 67/72 patients., Conclusions: In the context of costly treatments with few controlled studies in adults with SMA, in whom assessment of efficacy can be complex, SMDTs are 'real-world observatories' of great interest to establish national recommendations about indications of treatment and follow-up., (© 2024. The Author(s).)- Published
- 2024
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20. [The French Society of Myology celebrates its 20 th birthday!]
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Solé G
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- 2023
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21. Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
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Riant F, Burglen L, Corpechot M, Robert J, Durr A, Solé G, Petit F, Freihuber C, De Marco O, Sarret C, Castelnovo G, Devillard F, Afenjar A, Héron B, and Lasserve ET
- Subjects
- Humans, Ataxia genetics, Sequence Analysis, RNA, Calcium Channels genetics, Cerebellar Ataxia genetics
- Abstract
Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic manifestations or developmental delay. Variants located on the AG/GT consensus splice sites are usually considered as responsible of splicing defects, but exonic or intronic variants located outside of the consensus splice site can also lead to abnormal splicing. We investigated the putative consequences on splicing of 11 CACNA1A variants of unknown significance (VUS) identified in patients with episodic ataxia or congenital ataxia. In silico splice predictions were performed and RNA obtained from fibroblasts was analyzed by Sanger sequencing. The presence of abnormal transcripts was confirmed in 10/11 patients, nine of them were considered as deleterious and one remained of unknown significance. Targeted next-generation RNA sequencing was done in a second step to compare the two methods. This method was successful to obtain the full cDNA sequence of CACNA1A. Despite the presence of several isoforms in the fibroblastic cells, it detected most of the abnormally spliced transcripts. In conclusion, RNA sequencing was efficient to confirm the pathogenicity of nine novel CACNA1A variants. Sanger or Next generation methods can be used depending on the facilities and organization of the laboratories., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
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- 2023
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22. Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.
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Bakis H, Trimouille A, Vermorel A, Goizet C, Belaroussi Y, Schutz S, Solé G, Combe C, Martin-Negrier ML, and Rigothier C
- Abstract
Background: Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney functions are highly dependent on mitochondrial respiration. However, the prevalence of MID-associated nephropathies (MIDANs) is unknown in the adult population. We aimed to address this point and to provide a full characterization of MIDANs in this population., Methods: We retrospectively included for observational study adults (≥16 years of age) with genetically diagnosed MID between 2000 and 2020 in our tertiary care academic centre when they had a chronic kidney disease (CKD) evaluation. MIDANs were ascertained by CKD occurring in MIDs. The phenotypic, biological, histopathological and genotypic characteristics were recorded from the medical charts., Results: We included 80 MID-affected adults and ascertained MIDANs in 28/80 (35%). Kidney diseases under the care of a nephrologist occurred in only 14/28 (50%) of the adults with MIDAN. MIDANs were tubulointerstitial nephropathy in 14/28 patients (50%) and glomerular diseases in 9/28 (32.1%). In adults with MID, MIDAN was negatively associated with higher albumin levels {odds ratio [OR] 0.79 [95% confidence interval (CI) 0.67-0.95]} and vision abnormalities [OR 0.17 (95% CI 0.03-0.94)] and positively associated with hypertension [OR 4.23 (95% CI 1.04-17.17)]., Conclusion: MIDANs are frequent among adult MIDs. They are mostly represented by tubulointerstitial nephropathy or glomerular disease. Vision abnormalities, hypertension and albumin levels were independently associated with MIDANs. Our results pave the way for prospective studies investigating the prevalence of MIDANs among undetermined kidney disease populations., (© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.)
- Published
- 2022
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23. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
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Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, and Sacconi S
- Subjects
- Artificial Intelligence, Humans, Patient Reported Outcome Measures, Registries, Muscular Dystrophy, Facioscapulohumeral diagnosis, Physicians
- 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., (© 2022. The Author(s).)
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- 2022
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24. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
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Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, and Attarian S
- Subjects
- Cross-Sectional Studies, Humans, Pandemics, SARS-CoV-2, COVID-19, Neuromuscular Diseases epidemiology
- Abstract
Background: Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus., Results: Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD., Conclusion: During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19., (© 2021. The Author(s).)
- Published
- 2021
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25. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
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Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, and Cossée M
- Subjects
- Adult, Child, Cohort Studies, Female, High-Throughput Nucleotide Sequencing methods, Humans, Male, Muscular Diseases diagnosis, Muscular Diseases genetics, Genotype, Muscular Diseases pathology, Phenotype
- Abstract
Diagnosis of myopathies is challenged by the high genetic heterogeneity and clinical overlap of the various etiologies. We previously reported a Next-Generation Sequencing strategy to identify genetic etiology in patients with undiagnosed Limb-Girdle Muscular Dystrophies, Congenital Myopathies, Congenital Muscular Dystrophies, Distal Myopathies, Myofibrillar Myopathies, and hyperCKemia or effort intolerance, using a large gene panel including genes classically associated with other entry diagnostic categories. In this study, we report the comprehensive clinical-biological strategy used to interpret NGS data in a cohort of 156 pediatric and adult patients, that included Copy Number Variants search, variants filtering and interpretation according to ACMG guidelines, segregation studies, deep phenotyping of patients and relatives, transcripts and protein studies, and multidisciplinary meetings. Genetic etiology was identified in 74 patients, a diagnostic yield (47.4%) similar to previous studies. We identified 18 patients (10%) with causative variants in different genes ( ACTA1, RYR1, NEB, TTN, TRIP4, CACNA1S, FLNC, TNNT1, and PAPBN1 ) that resulted in milder and/or atypical phenotypes, with high intrafamilial variability in some cases. Mild phenotypes could mostly be explained by a less deleterious effect of variants on the protein. Detection of inter-individual variability and atypical phenotype-genotype associations is essential for precision medicine, patient care, and to progress in the understanding of the molecular mechanisms of myopathies.
- Published
- 2021
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26. Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance.
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Nortier JL, Remiche G, Delrée P, Nauta J, Notermans NC, Vivarelli M, Diodato D, Solé G, Debiec H, and Ronco P
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- 2021
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27. Micronutrient Deficiencies in Patients with Decompensated Liver Cirrhosis.
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Llibre-Nieto G, Lira A, Vergara M, Solé C, Casas M, Puig-Diví V, Solé G, Humanes A, Grau L, Barradas JM, Miquel M, and Sánchez-Delgado J
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- Aged, End Stage Liver Disease blood, End Stage Liver Disease etiology, Female, Humans, Liver Cirrhosis blood, Liver Cirrhosis diagnosis, Male, Malnutrition blood, Malnutrition diagnosis, Malnutrition etiology, Micronutrients blood, Middle Aged, Prevalence, Prospective Studies, Risk Factors, Severity of Illness Index, End Stage Liver Disease diagnosis, Liver Cirrhosis complications, Malnutrition epidemiology, Micronutrients deficiency
- Abstract
Patients with cirrhosis often develop malnutrition and micronutrient deficiencies, leading to a worse prognosis and increased mortality. Our main goal was to assess the prevalence of micronutrient deficiencies in patients with decompensated cirrhosis. This was a prospective single-center study including 125 consecutive patients hospitalized for acute decompensation of cirrhosis (mostly of alcoholic etiology). A blood test including trace elements and vitamins was performed on admission. The main micronutrient deficiencies observed were vitamin D (in 94.5%), vitamin A (93.5%), vitamin B6 (60.8%) and zinc (85.6%). Patients in Child-Pugh class C had lower levels of vitamin A ( p < 0.0001), vitamin E ( p = 0.01) and zinc ( p < 0.001), and higher levels of ferritin ( p = 0.002) and vitamin B12 ( p < 0.001) than those in Child-Pugh class A and B. Patients with a higher model of end-stage liver disease (MELD) score had lower levels of vitamin A ( p < 0.0001), vitamin E ( p < 0.001), magnesium ( p = 0.01) and zinc ( p = 0.001), and higher levels of ferritin ( p = 0.002) and vitamin B12 ( p < 0.0001). Severe hepatic insufficiency correlated with lower levels of zinc, vitamin E and vitamin A, and higher levels of vitamin B12 and ferritin.
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- 2021
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28. The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
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Gargaun E, Falcone S, Solé G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Béroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F, and Pietri-Rouxel F
- Abstract
In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers for Duchenne and Becker muscular dystrophy (DMD/BMD). DMD and BMD are X-linked myopathies characterized by a progressive muscular dystrophy with or without dilatative cardiomyopathy. Two-thirds of DMD gene mutations are represented by deletions, and 63% of patients carrying DMD deletions are eligible for 45 to 55 multi-exons skipping (MES), becoming BMD patients (BMDΔ45-55). We analyzed the genomic lncRNA presence in 38 BMDΔ45-55 patients and characterized the lncRNA localized in introns 44 and 55 of the DMD gene. We highlighted that all four lncRNA are differentially expressed during myogenesis in immortalized and primary human myoblasts. In addition, the lncRNA44s2 was pointed out as a possible accelerator of differentiation. Interestingly, lncRNA44s expression was associated with a favorable clinical phenotype. These findings suggest that lncRNA44s2 could be involved in muscle differentiation process and become a potential disease progression biomarker. Based on these results, we support MES45-55 therapy and propose that the design of the CRISPR/Cas9 MES45-55 assay consider the lncRNA sequences bordering the exonic 45 to 55 deletion.
- Published
- 2021
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29. Analysis of Cognitive Skills in History Textbook (Spain-England-Portugal).
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Gómez CJ, Solé G, Miralles P, and Sánchez R
- Abstract
The main objective of this article is to analyze the cognitive level of the activities in History textbooks in Spain, England, and Portugal in the transition stage from Primary to Secondary Education (11-13 years), according to the country of origin, typology, and the concepts and disciplinary contents included. The design of this research is quantitative, descriptive, and cross-sectional. The non-probabilistic sample consists of 6,561 activities contained in 27 school textbooks from Spain, England, and Portugal. Descriptive and contrast analyses have been carried out using parametric tests. The results indicate that textbooks from Spain and Portugal mainly include activities situated between a basic and intermediate cognitive level while in England, the cognitive level of activities is medium or high. The ANOVA and Tukey B tests show significant differences between the cognitive level required in the activities and the typology of exercises, the concepts, and historical contents worked on. The activities with higher cognitive level correspond to those of creation and essays, the exercises that work on empathy and historical relevance, and that contain activities of social and economic history. In contrast, the activities with the lowest cognitive level are short questions and objective tests, those that work on first-order concepts (data and concrete facts), and those on the History of Art. The conclusion is that there is a need for a balanced presence of first-order content and historical thinking skills, the application in the classroom of a more active student-centered methodology, and the teachers' conception of history teaching that prioritizes historical skills., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2020 Gómez, Solé, Miralles and Sánchez.)
- Published
- 2020
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30. Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
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Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, and Attarian S
- Subjects
- Adult, Alleles, Attention, Cross-Sectional Studies, DNA Methylation, Female, Genotype, Humans, Male, Middle Aged, Penetrance, Phenotype, Severity of Illness Index, Genetic Association Studies, Genetic Predisposition to Disease, Muscular Dystrophy, Facioscapulohumeral diagnosis, Muscular Dystrophy, Facioscapulohumeral genetics, Repetitive Sequences, Nucleic Acid
- Abstract
Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of methylation in different D4Z4 regions between patients with FSHD1 with different clinical severity scores (CSS). This cross-sectional multicenter study was conducted to measure functional scales and for genetic analysis. Patients were classified into two categories according to RUs: Group 1, 6-8; Group 2, 9-10. Methylation analysis was performed in 27 patients. A total of 99 carriers of a contracted D4Z4 array were examined. No significant correlations between RUs and CSS (r = 0.04, p = 0.73) and any of the clinical outcome scales were observed between the two groups. Hypomethylation was significantly more pronounced in patients with high CSS (>3.5) than those with low CSS (<1.5) (in DR1 and 5P), indicating that the extent of hypomethylation might modulate disease severity. In Group 1, the disease severity is not strongly correlated with the allele size and is mostly correlated with the methylation of D4Z4 regions.
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- 2020
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31. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
- Author
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Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, and Stojkovic T
- Subjects
- Adaptor Proteins, Signal Transducing genetics, Alleles, Amino Acid Sequence, Biopsy, Cell Cycle Proteins genetics, France, Genetic Testing, Humans, Nuclear Proteins genetics, Pedigree, Ubiquitin-Protein Ligases chemistry, Charcot-Marie-Tooth Disease diagnosis, Charcot-Marie-Tooth Disease genetics, Family, Founder Effect, Genetic Variation, Phenotype, Ubiquitin-Protein Ligases genetics
- Abstract
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories. Seventy-two patients with autosomal dominant inheritance were identified. The disease usually started in the fourth decade and the clinical picture was dominated by sensory ataxia (80%), neuropathic pain (38%), and length-dependent sensory loss to all modalities. Electrophysiological studies showed a primarily axonal neuropathy, with possible isolated sensory involvement in milder phenotypes. Disease severity varied greatly but the clinical course was generally mild. We identified 2 novel variants in LRSAM1 gene: a deletion of 4 amino acids, p.(Gln698_Gln701del), was found in 7 families and a duplication of a neighboring region of 10 amino acids, p.(Pro702_Gln711dup), in the remaining family. A common haplotype of ~450 kb suggesting a founder effect was noted around LRSAM1 in 4 families carrying the first variant. LRSAM1 gene encodes for an E3 ubiquitin ligase important for neural functioning. Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms.
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- 2019
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32. [Innovative therapies and organization of care facilities].
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Desguerre I, Perreau-Saussine M, Annane D, and Solé G
- Subjects
- Critical Pathways organization & administration, Health Facilities standards, Humans, Needs Assessment organization & administration, Needs Assessment standards, Nurse's Role, Practice Patterns, Nurses' organization & administration, Practice Patterns, Nurses' standards, Therapies, Investigational standards, Delivery of Health Care organization & administration, Health Facility Administration methods, Health Facility Administration standards, Therapies, Investigational methods
- Published
- 2019
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33. [Multidisciplinary Concertation Meetings (RCP): objectives and operating procedures].
- Author
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Solé G
- Subjects
- Humans, Neoplasms diagnosis, Neoplasms therapy, Patient Care methods, Interdisciplinary Communication, Patient Care Team organization & administration
- Published
- 2018
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34. Value of nerve biopsy in the management of peripheral neuropathies.
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Mathis S, Magy L, Le Masson G, Richard L, Soulages A, Solé G, Duval F, Ghorab K, Vallat JM, and Duchesne M
- Subjects
- Humans, Peripheral Nervous System Diseases complications, Peripheral Nervous System Diseases diagnosis, Vasculitis complications, Biopsy, Peripheral Nervous System Diseases etiology, Peripheral Nervous System Diseases pathology
- Abstract
Introduction: Peripheral neuropathy is a common symptom throughout the population, with numerous possible etiologies. The diagnosis of peripheral neuropathies (and their causes) is mainly based on clinical, electrophysiological, biological, and imaging features. Areas covered: This paper reviews the main causes of neuropathy and discusses the usefulness of nerve biopsy (NB) in such cases. Expert commentary: In most cases, NB is not mandatory in the diagnostic work-up of a peripheral neuropathy. However, NB is clearly an indication in cases of vasculitis. It is also valuable in peripheral neuropathies with severe and rapid worsening (without clear cause) in order to uncover a pathological hallmark (amyloid deposits). Although NB is considered an invasive method, it may be useful in the management of peripheral neuropathy, especially to guide treatment in certain cases. In summary, although NB is not a systematic procedure, it is a useful tool that should be discussed on a case-by-case basis within the clinical context.
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- 2018
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35. Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.
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Hachulla E, Le Masson G, Solé G, Hamidou M, Desnuelle C, Azulay JP, Besson G, Swiader L, Abad S, Antoine JC, Bouhour F, Créange A, Grenouillet M, Magy L, Marcel S, Paquet JM, Rouhart F, Ziegler F, Mathis S, Gauthier-Darnis M, and Puget S
- Subjects
- Adult, Aged, Autoimmune Diseases immunology, Autoimmune Diseases pathology, Female, France, Humans, Immunoglobulins, Intravenous adverse effects, Immunologic Deficiency Syndromes immunology, Immunologic Deficiency Syndromes pathology, Male, Middle Aged, Peripheral Nervous System Diseases immunology, Peripheral Nervous System Diseases pathology, Retrospective Studies, Treatment Outcome, Autoimmune Diseases drug therapy, Immunoglobulins, Intravenous administration & dosage, Immunologic Deficiency Syndromes drug therapy, Peripheral Nervous System Diseases drug therapy
- Abstract
The efficacy of intravenous immunoglobulins (IVIg) in patients with autoimmune diseases (AID) has been known for several decades. Majority of these patients received IVIg in hospital. A retrospective study was conducted in 22 centers in France to evaluate the feasibility of the administration of Tegeline, an IVIg from LFB Biomedicaments, and assess its safety at home, compared to in hospital, in patients with AID. The included patients were at least 18 years old, suffering from AID, and treated with at least 1 cycle of Tegeline at home after receiving 3 consecutive cycles of hospital-based treatment with Tegeline at a dose between 1 and 2 g/kg/cycle. Forty-six patients with AID, in most cases immune-mediated neuropathies, received a total of 138 cycles of Tegeline in hospital and then 323 at home. Forty-five drug-related adverse events occurred in 17 patients who received their cycles at home compared to 24 adverse events in hospital in 15 patients. Serious adverse events occurred in 3 patients during home treatment, but they were not life-threatening and did not lead to discontinuation of Tegeline. Forty-five patients continued their treatment with Tegeline at home or in hospital; 39 (84.8%) were still receiving home treatment at the end of the study. In conclusion, the study demonstrates the good safety profile of Tegeline administered at home at high doses in patients with AID who are eligible for home administration of Tegeline.
- Published
- 2018
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36. Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis.
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Le Masson G, Solé G, Desnuelle C, Delmont E, Gauthier-Darnis M, Puget S, and Durand-Zaleski I
- Subjects
- Adult, Autoimmunity, Costs and Cost Analysis, Female, France epidemiology, Humans, Male, Middle Aged, Prospective Studies, Home Care Services economics, Hospitalization economics, Immunoglobulins, Intravenous economics, Immunoglobulins, Intravenous therapeutic use, Polyneuropathies economics, Polyneuropathies immunology, Polyneuropathies psychology, Polyneuropathies therapy, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating economics, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating immunology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating psychology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating therapy, Quality of Life
- Abstract
Background: Prior clinical trials have suggested that home-based Ig treatment in multifocal motor neuropathy (MMN) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and its variant Lewis-Sumner syndrome (LSS) is safe and effective and is less costly than hospital-administered intravenous immunoglobulin (IVIg)., Methods: A French prospective, dual-center, cost minimization analysis was carried out to evaluate IVIg administration (5% concentrated) at home versus in hospital with regard to costs, patients' autonomy, and patients' quality of life. The primary endpoint was the overall cost of treatment, and we adopted the perspective of the payer (French Social Health Insurance)., Results: Twenty-four patients aged 52.3 (12.2) years were analyzed: nine patients with MMN, eight with CIDP, and seven with LSS. IVIg (g/kg) dosage was 1.51 ± 0.43 in hospital and 1.52 ± 0.4 at home. Nine-month total costs per patient extrapolated to 1 year of treatment were €48,189 ± 26,105 versus €91,798 ± 51,125 in the home and hospital groups, respectively ( p < .0001). The most frequently reported factors for choosing home treatment were the good tolerance and absence of side effects of IVIg administration, as well as a good understanding of the advantages and drawbacks of home treatment (75% of respondents). The mRankin scores before and after switch to home treatment were 1.61 ± 0.72 and 1.36 ± 0.76, respectively ( p = .027)., Discussion: The switch from hospital-based to home-based IVIg treatment for patients with immune neuropathy represents potentially significant savings in the management of the disease.
- Published
- 2018
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37. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
- Author
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Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, and Latour P
- Subjects
- Adult, Aged, Animals, Cell Line, Tumor, Charcot-Marie-Tooth Disease genetics, Chick Embryo, Family, Female, Humans, Male, Mice, Middle Aged, Mutation, Neurofilament Proteins genetics, Spinal Cord metabolism, Spinal Cord pathology, Young Adult, Apoptosis physiology, Charcot-Marie-Tooth Disease metabolism, Neurofilament Proteins metabolism, Neurons metabolism, Protein Aggregation, Pathological metabolism
- Abstract
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients. Nerve conduction velocity studies indicated a predominantly motor axonal neuropathy. Unique deletions of two nucleotides causing frameshifts near the end of the NEFH coding sequence were identified: in family 1, c.3008_3009del (p.Lys1003Argfs*59), and in family 2 c.3043_3044del (p.Lys1015Glyfs*47). Both frameshifts lead to 40 additional amino acids translation encoding a cryptic amyloidogenic element. Consistently, we show that these mutations cause protein aggregation which are recognised by the autophagic pathway in motoneurons and triggered caspase 3 activation leading to apoptosis in neuroblastoma cells. Using electroporation of chick embryo spinal cord, we confirm that NEFH mutants form aggregates in vivo and trigger apoptosis of spinal cord neurons. Thus, our results provide a physiological explanation for the overlap between CMT and amyotrophic lateral sclerosis (ALS) clinical features in affected patients.
- Published
- 2017
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38. [The French Society of Myology shows some heart].
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Bonne G and Solé G
- Subjects
- Charcot-Marie-Tooth Disease, France, Myofunctional Therapy, Neuromuscular Diseases, Societies, Medical, Cardiomyopathies therapy, Muscles physiology
- Published
- 2016
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39. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
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Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, and Coupry I
- Subjects
- Alleles, Amino Acid Substitution, Exons, Facies, Female, Filamins genetics, Humans, Male, Pedigree, Sequence Analysis, DNA, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities genetics, Genetic Association Studies, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital genetics, Mutation, Osteochondrodysplasias diagnosis, Osteochondrodysplasias genetics, Phenotype
- Abstract
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions. FLNA encodes filamin A, a scaffolding actin-binding protein. Here, we report phenotypic descriptions and molecular results of FLNA analysis in a large series of 27 probands hypothesized to be affected by OPDSD. We identified 11 different missense mutations in 15 unrelated probands (n=15/27, 56%), of which seven were novel, including one of unknown significance. Segregation analyses within families made possible investigating 20 additional relatives carrying a mutation. This series allows refining the phenotypic and mutational spectrum of FLNA mutations causing OPDSD, and providing suggestions to avoid the overdiagnosis of OPD1.
- Published
- 2016
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40. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
- Author
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Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, and Attarian S
- Subjects
- Adolescent, Adult, Aged, Alleles, Cross-Sectional Studies, Epigenesis, Genetic, Female, Humans, Male, Microfilament Proteins, Middle Aged, Nuclear Proteins genetics, RNA-Binding Proteins, Young Adult, Muscular Dystrophy, Facioscapulohumeral genetics, Nuclear Proteins metabolism, Penetrance
- Abstract
Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex, age, and several environmental factors on clinical expression of the disease., Methods: A cross-sectional multicenter study was conducted in six French and one Swiss neuromuscular centers. 65 FSHD1 affected patients carrying a 4qA allele of 6-10 RUs were identified as index cases (IC) and their 119 at-risk relatives were included. The age of onset was recorded for IC only. Medical history, neurological examination and manual muscle testing were performed for each subject. Genetic testing determined the allele size (number of RUs) and the 4qA/4qB allelic variant. The clinical status of relatives was established blindly to their genetic testing results. The main outcome was the penetrance defined as the ratio between the number of clinically affected carriers and the total number of carriers., Results: Among the relatives, 59 carried the D4Z4 contraction. At the clinical level, 34 relatives carriers were clinically affected and 25 unaffected. Therefore, the calculated penetrance was 57% in the range of 6-10 RUs. Penetrance was estimated at 62% in the range of 6-8 RUs, and at 47% in the range of 9-10 RUs. Moreover, penetrance was lower in women than men. There was no effect of drugs, anesthesia, surgery or traumatisms on the penetrance., Conclusions: Penetrance of FSHD1 is low for largest alleles in the range of 9-10 RUs, and lower in women than men. This is of crucial importance for genetic counseling and clinical management of patients and families.
- Published
- 2015
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41. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
- Author
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Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, and Goizet C
- Subjects
- Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Female, Filamins, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Mutation, Missense, Contractile Proteins genetics, Microfilament Proteins genetics, Periventricular Nodular Heterotopia genetics, Seizures genetics
- Abstract
Periventricular nodular heterotopia, the most common form of cortical malformation in adulthood, is characterized by nodules of neurons ectopically placed along the lateral ventricles. Classically, ectopic nodules are bilateral and symmetric defining bilateral periventricular nodular heterotopia (BPNH). BPNH can lead to epilepsy and intellectual disability of variable severity. The X-linked dominant form of BPNH, related to mutations in FLNA encoding filamin A, is the major cause of BPNH, causing prenatal and neonatal lethality in males that explain the excess of affected women. However, few living males have been described with this condition. In addition, mutations in FLNA have been also exceptionally associated with unilateral nodular heterotopia. We describe here three new patients, all carrying a novel missense mutation in FLNA. Two of the patients were adult males with BPNH; both had normal cognitive development and one did not manifest any seizure until he died at age 57. The last patient was a female adult with epilepsy and focal nodules essentially located along the right ventricle. We compare the clinical and imaging data of our patients with those of previously described similar cases. The type and location of FLNA mutations leading to such atypical presentations are discussed., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)
- Published
- 2012
- Full Text
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42. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
- Author
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Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, and Goizet C
- Subjects
- Aged, Cells, Cultured, Female, Filamins, Genetic Predisposition to Disease, Humans, Middle Aged, Platelet Count, Syndrome, Thrombocytopenia blood, Thrombocytopenia diagnosis, Contractile Proteins genetics, Microfilament Proteins genetics, Mutation physiology, Thrombocytopenia classification, Thrombocytopenia genetics
- Abstract
Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital syndrome spectrum of disorders. In platelets, filamin A (FLNa) tethers the principal receptors ensuring the platelet-vessel wall interaction, glycoprotein Ibα and integrin αIIbβ3, to the underlying cytoskeleton. Hemorrhage, coagulopathy, and thrombocytopenia are mentioned in several reports on patients with FLNA-PVNH. Abnormal platelet morphology in 2 patients with FLNA-PVNH prompted us to examine a third patient with similar platelet morphology previously diagnosed with immunologic thrombocytopenic purpura. Her enlarged platelets showed signs of FLNa degradation in Western blotting, and a heterozygous missense mutation in FLNA was detected. An irregular distribution of FLNa within the total platelet population was shown by confocal microscopy for all 3 patients. In vitro megakaryocyte cultures showed an abnormal differentiation, including an irregular distribution of FLNa with a frayed aspect, the presence of enlarged α-granules, and an abnormal fragmentation of the cytoplasm. Mutations in FLNA may represent an unrecognized cause of macrothrombocytopenia with an altered platelet production and a modified platelet-vessel wall interaction.
- Published
- 2011
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43. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
- Author
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Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, and Faivre L
- Subjects
- Abnormalities, Multiple pathology, Child, DNA Mutational Analysis, Filamins, Humans, Male, Abnormalities, Multiple genetics, Contractile Proteins genetics, Lung Diseases congenital, Microfilament Proteins genetics, Mutation, Periventricular Nodular Heterotopia pathology
- Abstract
X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding filamin A (FLNA). High phenotypic diversity, ranging from PH to otopalatodigital syndrome and frontometaphyseal dysplasia has been described in association with FLNA mutations. Extra-neurological features including cardiovascular abnormalities, coagulopathy, skeletal dysplasia and joint hypermobility have sometimes been described in patients with PH. Respiratory manifestations have not been associated with FLNA disorders with the exception of tracheal stenosis and pulmonary hypoplasia associated with frontometaphyseal dysplasia and Melnick-Needles syndrome. Here, we report on a male patient aged 6 years presenting with a mosaic nonsense mutation c.994delG within the FLNA gene, PH and severe congenital lung disease comprising bilateral atelectasis, lung cysts, tracheobronchomalacia, pulmonary arterial hypertension and long-term oxygen dependence; histology of resected lung showed panpulmonary emphysema with marked reduction of bronchial cartilage. Rare male patients with PH and FLNA mutations have already been reported, usually with early lethality. These observations suggest the possibility of a link between FLNA mutations and congenital lung disease. A prospective study of patients with PH and FLNA mutations would be helpful in order to test this hypothesis., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)
- Published
- 2011
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44. Highly enantioselective electrophilic amination and michael addition of cyclic beta-ketoesters induced by lanthanides and (S,S)-ip-pybox: the mechanism.
- Author
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Comelles J, Pericas A, Moreno-Mañas M, Vallribera A, Drudis-Solé G, Lledos A, Parella T, Roglans A, García-Granda S, and Roces-Fernández L
- Abstract
High enantioselection is obtained in Michael additions of cyclic beta-ketoesters in the presence of lanthanium triflates and (S,S)-ip-pybox. Intermediates based on simultaneous coordination of the lanthanide to both (S,S)-ip-box and beta-ketoester (in keto and enolate forms) are detected by means of ESI mass spectrometry and NMR experiments, and a possible mechanism is proposed through theoretical calculations.
- Published
- 2007
- Full Text
- View/download PDF
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