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1,309 results on '"Vissing J"'

8. P120 Refining MRI pattern in sarcoglycanopathies: upper body pattern and new approaches to assess disease progression

Author

Comellas, L Costa, primary, Sánchez-Montáñez, Á, additional, Maggi, L., additional, Díaz-Manera, J., additional, D'Amico, A., additional, Pichiecchio, A., additional, Pegoraro, E., additional, Monforte, M., additional, Løkken, N., additional, Marini-Bettolo, C., additional, Vlodavets, D., additional, Walter, M., additional, Voermans, N., additional, Monges, S., additional, Claeys, K., additional, Bevilacqua, J., additional, Alonso, J., additional, Comi, G., additional, Bruno, C., additional, Leonardis, L., additional, Straub, V., additional, Quijano-Roy, S., additional, Carlier, R Yves, additional, Vissing, J., additional, Mercuri, E., additional, Bertini, E., additional, Gomez-Andres, D., additional, Munell, F., additional, and Tasca, G., additional

Published
2023
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9. P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy

Author

Hilsden, H., primary, James, M., additional, Dressman, H Gordish, additional, Day, J., additional, Mendell, J., additional, Torron, R Fernandez, additional, Harms, M., additional, Pestronk, A., additional, Vissing, J., additional, Desai, U., additional, Yoshimura, M., additional, Shin, J., additional, Mozaffar, T., additional, Stojkovic, T., additional, Pegoraro, E., additional, Raivas, J Bevilacqu, additional, Olive, M., additional, Paradas, C., additional, Straub, V., additional, and Mayhew, A., additional

Published
2023
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11. P347 Toward an understanding of GSD5 (McArdle disease): How do patients learn to live with the metabolic defect in daily life?

Author

Karazi, W., primary, Coppers, J., additional, Maas, D., additional, Cup, E., additional, Bloemen, B., additional, Voet, N., additional, Groothuis, J., additional, Pinós, T., additional, Marti, R., additional, Quinlivan, R., additional, Løkken, N., additional, Vissing, J., additional, Bhai, S., additional, Wakelin, A., additional, Reason, S., additional, and Voermans, N., additional

Published
2023
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19. P208 Paracetamol treatment in patients with spinal muscular atrophy: a different pharmacokinetic profile

Author

Naume, M., primary, Zhao, Q., additional, Haslund-Krog, S., additional, Krag, T., additional, de Winter, B., additional, Revsbeck, K., additional, Vissing, J., additional, Holst, H., additional, Møller, M., additional, Hornsyld, T., additional, Dunø, M., additional, Høi-Hansen, C., additional, Born, A., additional, Andersen, P., additional, and Ørngreen, M., additional

Published
2023
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22. P283 Natural history of limb girdle muscular dystrophy R9: one-year follow-up of a European cohort

Author

Vissing, J., primary, Stojkovic, T., additional, Straub, V., additional, Preisler, N., additional, Holm-Yildiz, S., additional, Rudolf, K., additional, Querin, G., additional, Hogrel, J., additional, Birnbaum, S., additional, James, M., additional, Ghimenton, E., additional, Verma, M., additional, Richard, I., additional, Granier, M., additional, Degove, S., additional, and Olivier, S., additional

Published
2023
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25. Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.

Author

Løkken, N., Voermans, N.C., Andersen, L.K., Karazi, W., Reason, S.L., Zweers, H.E., Wilms, G., Santalla, A., Susanibar, E., Lucia, A., Vissing, J., Løkken, N., Voermans, N.C., Andersen, L.K., Karazi, W., Reason, S.L., Zweers, H.E., Wilms, G., Santalla, A., Susanibar, E., Lucia, A., and Vissing, J.

Abstract

Item does not contain fulltext, The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence of the LCKD's benefits, increased numbers of individuals with McArdle disease have tried a LCKD. The objective of this study was to collect patient-reported experiences with a LCKD. We aimed to estimate the immediate prevalence of individuals that had tried a LCKD in an international McArdle disease cohort, and we aimed to report on the patient-reported experiences with the diet, both positive and negative. A total of 183 responses were collected from individuals with McArdle disease from 18 countries. We found that one-third of the cohort had tried a LCKD, and almost 90% experienced some degree of positive effect, with the most prominent effects on McArdle disease-related core symptoms (e.g., activity intolerance, muscle pain, and muscle fatigue). Adverse effects were rare and generally rated as mild to moderate. These patient-reported findings underline the need for randomized clinical trials to decisively determine if a LCKD is a suitable nutritional strategy for patients with McArdle disease. The results from this study can prompt and contribute to the design of such a clinical trial.

Published
2023

28. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population:a multicentre study

Author

Björkman, K. (Kristoffer), Vissing, J. (John), Østergaard, E. (Elsebet), Bindoff, L. A. (Laurence A.), de Coo, I. F. (Irenaeus F. M.), Engvall, M. (Martin), Hikmat, O. (Omar), Isohanni, P. (Pirjo), Kollberg, G. (Gittan), Lindberg, C. (Christopher), Majamaa, K. (Kari), Naess, K. (Karin), Uusimaa, J. (Johanna), Tulinius, M. (Mar), Darin, N. (Niklas), Björkman, K. (Kristoffer), Vissing, J. (John), Østergaard, E. (Elsebet), Bindoff, L. A. (Laurence A.), de Coo, I. F. (Irenaeus F. M.), Engvall, M. (Martin), Hikmat, O. (Omar), Isohanni, P. (Pirjo), Kollberg, G. (Gittan), Lindberg, C. (Christopher), Majamaa, K. (Kari), Naess, K. (Karin), Uusimaa, J. (Johanna), Tulinius, M. (Mar), and Darin, N. (Niklas)

Abstract

Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains unclear. This study was undertaken to describe the clinical spectrum in a large cohort of patients with paediatric disease onset. Methods: A retrospective multicentre study was performed in patients with clinical onset <16 years of age, diagnosed and followed in seven European mitochondrial disease centres. Results: A total of 80 patients were included. The average age at disease onset and at last examination was 10 and 31 years, respectively. The median time from disease onset to death was 11.5 years. Pearson syndrome was present in 21%, Kearns-Sayre syndrome spectrum disorder in 50% and progressive external ophthalmoplegia in 29% of patients. Haematological abnormalities were the hallmark of the disease in preschool children, while the most common presentations in older patients were ptosis and external ophthalmoplegia. Skeletal muscle involvement was found in 65% and exercise intolerance in 25% of the patients. Central nervous system involvement was frequent, with variable presence of ataxia (40%), cognitive involvement (36%) and stroke-like episodes (9%). Other common features were pigmentary retinopathy (46%), short stature (42%), hearing impairment (39%), cardiac disease (39%), diabetes mellitus (25%) and renal disease (19%). Conclusion: Our study provides new insights into the phenotypic spectrum of childhood-onset, LMD-associated syndromes. We found a wider spectrum of more prevalent multisystem involvement compared with previous studies, most likely related to a longer time of follow-up.

Published
2023

30. Prediction of cardiac outcomes in 600 adult patients with mitochondrial diseases

Author

Savvatis, K., primary, Vissing, C., additional, Klouvi, L., additional, Florian, A., additional, Béhin, A., additional, Masingue, M., additional, Stojkovic, T., additional, Mochel, F., additional, Stalens, C., additional, Procaccio, V., additional, Spinazzi, M., additional, Echaniz-Laguna, A., additional, Quinlivan, R., additional, Hanna, M., additional, Tard, C., additional, Yilmaz, A., additional, Vissing, J., additional, Laforêt, P., additional, Elliott, P., additional, and Wahbi, K., additional

Published
2023
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37. P.03 Myosin dysregulation in nemaline myopathy

Author

Laitila, J., primary, Ranu, N., additional, Mariano, J., additional, Wallgren-Pettersson, C., additional, Witting, N., additional, Vissing, J., additional, Vilchez, J., additional, Fiorillo, C., additional, Zanoteli, E., additional, Auranen, M., additional, Jokela, M., additional, Beck, T., additional, Larsen, S., additional, Kontrogianni-Konstantopoulos, A., additional, and Ochala, J., additional

Published
2022
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48. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

Author

Pini, J., Siciliano, G., Lahaut, P., Braun, S., Segovia-Kueny, S., Kole, A., Hernando, I., Selb, J., Schirinzi, E., Duong, T., Hogrel, J. -Y., Olmedo, J. J. S., Vissing, J., Servais, L., Vincent-Genod, D., Vuillerot, C., Bannwarth, S., Eggenspieler, D., Vicart, S., Diaz-Manera, J., Lochmuller, H., Sacconi, S., Cavalli, C., Puma, A., Villa, L., and Andr, E.

Subjects
030506 rehabilitation, e-Health, eNMD congress, innovation, neuromuscular disease, unmet needs, Consensus, France, Health Personnel, Humans, Neuromuscular Diseases, Quality of Life, Telemedicine, Neuromuscular disease, Nice, Context (language use), Disease, Meeting Report, Unmet needs, Enmd congress, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Medical consensus, medicine, Innovation, computer.programming_language, E-health, business.industry, medicine.disease, Clinical trial, Comprehension, Neurology, Neurology (clinical), Medical emergency, 0305 other medical science, business, computer, 030217 neurology & neurosurgery
Abstract

Altres ajuts: ALCOTRA Program (Alpes Latines COopération TRAnsfrontalière). By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. Usually, insufficient resources or services are available, leading to patients' social burden. From a medical perspective, the rarity of such diseases leads to the unfamiliarity of the medical staff and caregiver and an absence of consensus in disease assessment, treatment, and management. Innovations have to be developed in response to patients' and physicians' unmet needs. It is vital to improve several aspects of patients' quality of life with a better comprehension of their disease, simplify their management and follow-up, help their caregiver, and reduce the social and economic burden for living with a rare debilitating disease. Database construction regrouping patients' data and symptoms according to specific country registration on data privacy will be critical in establishing a clear consensus on neuromuscular disease treatment. Clinicians also need technological innovations to help them recognize neuromuscular diseases, find the best therapeutic approach based on medical consensus, and tools to follow patients' states regularly. Diagnosis also has to be improved by implementing automated systems to analyze a considerable amount of data, representing a significant step forward to accelerate the diagnosis and the patients' follow up. Further, the development of new tools able to precisely measure specific outcomes reliably is of the matter of importance in clinical trials to assess the efficacy of a newly developed compound. In this context, creation of an expert community is essential to communicate and share ideas. To this end, 97 clinicians, healthcare professionals, researchers, and representatives of private companies from 9 different countries met to discuss the new perspective and challenges to develop and implement innovative tools in the field of neuromuscular diseases.

Published
2021
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