Results 81 to 90 of about 283,904 (179)

Emery-Dreifuss Muscular Dystrophy

Clinical characteristics Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest ...
Bonne, Gisèle, Leturcq, France, Yaou, Rabah   +2 more
openaire   +2 more sources

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

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

The effects of overexpression of lamin a and two mutants associated with premature aging on stem cell differentiation and proliferation. [PDF]

, 2007
The nuclear lamina is composed of A and B-type lamins and performs a number of functions within the nucleus. Mutations within lamins give rise to a group of diseases called laminopathies including autosomal dominant Emery-Dreifuss muscular dystrophy and ...
Gibbs-Seymour, Ian
core  

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
doaj   +1 more source

Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy - A case report

, 2002
WOS: 000173800200016PubMed ID: 11863303A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first ...
San, M, Demirtas, M, Kanadasi, M, Guzel, R, Tuncer, I   +4 more
core   +2 more sources

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

Emery-Dreifuss Muscular Dystrophy Type 5 - A Diagnostic Challenge

, 2020
Emery-Dreifuss muscular dystrophy is a rare and often slowly progressive genetic disorder that primarily affects skeletal muscles and cardiac ...
Konstantinos A. A. Douglas; Vivian Paraskevi Douglas; Bart K. Chwalisz
core  

Mechanotransduction in fibroblasts [PDF]

, 2011
Response to mechanical stress is important for tissue homeostasis, tissue architecture and muscle regeneration. All cells of an organism are subject to at least one of three types of mechanical stress: compression, shear stress or tension.
Brosig, Michaela
core   +1 more source

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