Results 31 to 40 of about 17,131 (226)

Vitamin-enriched drinks and dessert for myotoniс dystrophy patients with oropharyngeal dysfagia

Бюллетень сибирской медицины, 2008
Myotonic dystrophy is a multisystemic disease which mutation may influence your development and function of different organs and tissue: smooth and skeletal-muscular tissue; heart; organs of the eye, brain.
N. A. Shnaider, Ye. A. Bakhtina, T. L. Kamoza, Ye. A. Kozulina   +3 more
doaj   +1 more source

Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1

, 2014
This work is supported by the Scottish Universities Life Science Alliance (SULSA) and the Biotechnology and Biological Sciences Research Council (BBSRC) via a Ph.D.
Coleman, Stewart, Sleeman, Judith E., Coleman, Stewart M., Prescott, Alan R., Sleeman, Judith Elizabeth, Prescott, Alan R.; id_orcid   +5 more
core   +1 more source

Remimazolam for a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography under general anesthesia: a case report

JA Clinical Reports, 2021
Background Remimazolam is a benzodiazepine receptor agonist with an ultra-short-acting anesthetic effect. We used remimazolam for anesthesia in a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography (ERCP ...
Masakazu Fukuda, Shunsuke Tachibana, Noriaki Nishihara, Michiaki Yamakage   +3 more
doaj   +1 more source

MYOTONIC DYSTROPHY AND THE HEART [PDF]

Heart, 2002
Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s
G, Pelargonio, A, Dello Russo, T, Sanna, G, De Martino, F, Bellocci   +4 more
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
core  

Myotonic dystrophy as a potential killer

, 2009
A 19-year-old man suffered a cardiac arrest during a promenade with his friends. Cardiac resuscitation was started immediately. Anamnesis uncovered that the father as well as a cousin of the patient suffered from myotonic dystrophy (MD).
Joerg, Lucas, Rickli, Hans, Brenner, Roman   +2 more
core   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Anesthetic management for a patient with myotonic dystrophy with remimazolam

JA Clinical Reports, 2021
Background Patients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in a patient with myotonic dystrophy using a novel intravenous anesthetic, remimazolam.
Yasuhiro Morimoto, Aya Yoshimatsu, Manabu Yoshimura   +2 more
doaj   +1 more source