Results 71 to 80 of about 4,510 (163)

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy

American Journal of Perinatology Reports, 2016
Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada   +9 more
doaj   +1 more source

The anaesthetic management of a patient with Emery-Dreifuss muscular dystrophy [PDF]

Canadian Journal of Anaesthesia, 1996
This case report presents a patient with Emery-Dreifuss Muscular Dystrophy and describes the anaesthetic considerations.The features of Emery-Dreifuss Muscular Dystrophy are contractures, humeroperoneal muscle weakness and cardiomyopathy. The anaesthetic considerations for this syndrome are difficult tracheal intubation, difficult spinal anaesthetic ...
openaire   +2 more sources

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

پزشکی بالینی ابن سینا, 2004
Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah, Abdolrasool Javan, Behdad Nadimi, Mehrdad Rezaei, Behrouz Yazdanpanah, Hamdollah Delaviz   +5 more
doaj  

The empowerment of translational research: lessons from laminopathies

Orphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo   +40 more
doaj   +1 more source

Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells

Cell Death and Disease
During myogenic differentiation, the Microtubule-Organizing Center (MTOC) is relocated to the nuclear envelope by a molecular platform including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex proteins, A Kinase Anchoring Proteins (AKAP9 and ...
Elisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, Elisa Schena, Spartaco Santi, Chiara Fiorillo, Claudio Bruno, Antonella Pini, Melania Giannotta, Marco Cavallo, Costantino Errani, Eleonora Cattin, Daniela Benati, Alessandra Recchia, Giovanna Lattanzi   +14 more
doaj   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
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In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

Case Reports in Anesthesiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness, early contractures, and dilated cardiomyopathy.
Frank Schuster, Carsten Wessig, Christoph Schimmer, Stephan Johannsen, Marc Lazarus, Ivan Aleksic, Rainer Leyh, Norbert Roewer   +7 more
doaj   +1 more source

Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland

International Journal of Occupational Medicine and Environmental Health, 2014
Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland.
Agnieszka Madej-Pilarczyk
doaj   +1 more source

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Clinical Cardiology, 1991
AbstractEmery‐Dreifuss muscular dystrophy (EDMD) is a rare X‐linked muscular dystrophy characterized by early contractures, progressive muscle weakness, and atrial arrhythmias. Recent reports suggest that there may be additional cardiac problems in affected males and that carrier females may also show ECG abnormalities.
M G, Bialer, N L, McDaniel, T E, Kelly
openaire   +2 more sources

An Extremely Rare Cause of Rhabdomyolysis: Emery Dreifuss Syndrome

Bagcilar Medical Bulletin
Intense physical activity, medications and trauma are common causes of rhabdomyolysis. However, etiologic factor of rhabdomyolysis can not be determined in a remarkable proportion of the cases.
Hazal Levent, Yunus Çoruk, Elif Itır Şen, Yasemin Çepni, Ayça Çınar, Ahmet Murat, Numan Görgülü   +6 more
doaj   +1 more source