Results 61 to 70 of about 18,649 (278)

Inclusion body myositis – pathomechanism and lessons from genetics

Open Medicine, 2015
Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis.
Murnyák Balázs, Bodoki Levente, Vincze Melinda, Griger Zoltán, Csonka Tamás, Szepesi Rita, Kurucz Andrea, Dankó Katalin, Hortobágyi Tibor   +8 more
doaj   +1 more source

Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies

Frontiers in Immunology, 2021
Muscular dystrophies and inflammatory myopathies are heterogeneous muscular disorders characterized by progressive muscle weakness and mass loss. Despite the high variability of etiology, inflammation and involvement of both innate and adaptive immune ...
Andrea Farini, Chiara Villa, Luana Tripodi, Mariella Legato, Yvan Torrente   +4 more
doaj   +1 more source

Treatment of autoimmune inflammatory myopathies [PDF]

, 2000
The treatment of the immune-mediated inflammatory myopathies remains largely empirical..
Mastaglia, F.L.
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Miopatías inflamatorias

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las miopatías inflamatorias son un grupo heterogéneo de enfermedades adquiridas del músculo estriado esquelético que comparten la injuria muscular inmunomediada como característica común.
Jorge A. Bevilacqua, MD, PhD, Nicholas Earle, MD   +1 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Management of the idiopathic inflammatory myopathies [PDF]

, 2019
The idiopathic inflammatory myopathies (IIMs) – comprising polymyositis, dermatomyositis and inclusion body myositis – are a rare group of disorders characterised by muscle inflammation.
Ashraful Haque, Akil, Mohammed, Michael Hughes, Nadin, Thomas, Haque, Ashraful, Mohammed Akil, Tom Nadin, Hughes, Michael; id_orcid   +7 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

Observations on the classification of the inflammatory myopathies. [PDF]

, 2011
This brief review considers historical approaches to the classification of the inflammatory myopathies. The last 25 years have seen advances in our knowledge of the underlying immune mechanism but the initial trigger for the idiopathic inflammatory ...
David Hilton-Jones, Hilton-Jones, David, Hilton-Jones, D   +2 more
core   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source