Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
| العنوان: | Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D |
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| المؤلفون: | Bernard Clair, Sylvie Chevret, Djillali Annane, Raquel Guimarães-Costa, Abdallah Fayssoil, Tanya Stojkovic, Cendrine Chaffaut, Olivier Nardi, David Orlikowski, Adam Ogna, Pascal Laforêt, Karim Wahbi, Anthony Behin, Hélène Prigent, Frédéric Lofaso |
| المساهمون: | HAL UPMC, Gestionnaire, 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), Service de réanimation médicale[Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Centre d’Investigation Clinique 1429 [Garches] (CIC 1429), Hôpital Raymond Poincaré [AP-HP]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de biostatistique et information médicale de l’hôpital Saint Louis (Equipe ECSTRA) (SBIM), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut national du cancer [Boulogne] (INCA)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Cardiologie [CHU Cochin], Service de physiologie et d'explorations fonctionnelles [CHU Raymond-Poincaré], 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut national du cancer [Boulogne] (INCA)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP] |
| المصدر: | PLoS ONE PLoS ONE, 2016, 11 (4), pp.e0153095. ⟨10.1371/journal.pone.0153095⟩ PLoS ONE, Vol 11, Iss 4, p e0153095 (2016) PLoS ONE, Public Library of Science, 2016, 11 (4), pp.e0153095. ⟨10.1371/journal.pone.0153095⟩ |
| بيانات النشر: | HAL CCSD, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, Heredity, Pulmonology, Genetic Linkage, Physiology, Vital Capacity, Cardiomyopathy, lcsh:Medicine, Duchenne Muscular Dystrophy, Cardiovascular Physiology, Muscular Dystrophies, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Respiratory function, Respiratory system, lcsh:Science, Multidisciplinary, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Heart, Prognosis, Respiratory Muscles, 3. Good health, Neurology, X-Linked Traits, Sex Linkage, Cardiology, Female, Cardiomyopathies, Respiratory Insufficiency, Research Article, Adult, medicine.medical_specialty, Death Rates, Diastole, 03 medical and health sciences, Population Metrics, Respiratory Failure, Diagnostic Medicine, Internal medicine, Respiratory muscle, Sarcoglycanopathies, Genetics, Humans, Demography, Clinical Genetics, Population Biology, business.industry, lcsh:R, Biology and Life Sciences, Arrhythmias, Cardiac, medicine.disease, Surgery, 030228 respiratory system, Respiratory failure, Muscular Dystrophies, Limb-Girdle, Heart failure, People and Places, lcsh:Q, business, Physiological Processes, Sleep, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Ejection Fraction |
| الوصف: | BACKGROUND:Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy, impaired respiratory muscle function and cardiomyopathy. The correlation and the prognostic impact of respiratory and heart impairment are poorly described. We aimed to describe the long-term cardiac and respiratory follow-up of these patients and to determine predictive factors of cardio-respiratory events and mortality in LGMD 2C and 2D. METHODS:We reviewed the charts of 34 LGMD patients, followed from 2005 to 2015, to obtain echocardiographic, respiratory function and sleep recording data. We considered respiratory events (acute respiratory failure, pulmonary sepsis, atelectasis or pneumothorax), cardiac events (acute heart failure, significant cardiac arrhythmia or conduction block, ischemic stroke) and mortality as outcomes of interest for the present analysis. RESULTS:A total of 21 patients had type 2C LGMD and 13 patients had type 2D. Median age was 30 years [IQR 24-38]. At baseline, median pulmonary vital capacity (VC) was 31% of predicted value [20-40]. Median maximal inspiratory pressure (MIP) was 31 cmH2O [IQR 20.25-39.75]. Median maximal expiratory pressure (MEP) was 30 cm H2O [20-36]. Median left ventricular ejection fraction (LVEF) was 55% [45-64] with 38% of patients with LVEF |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be31212f679c614f55c1df3526b92aebTest https://hal.sorbonne-universite.fr/hal-01323875Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....be31212f679c614f55c1df3526b92aeb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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