Results 81 to 90 of about 12,800 (285)

Clinical profiles associated with rapidly progressive interstitial lung disease in antisynthetase syndrome: A multicentric cohort study (TYPASS study)

Journal of Internal Medicine, EarlyView.
Abstract Objectives To assess factors associated with rapidly progressive interstitial lung disease (ILD) (RP‐ILD) at time of ILD diagnosis in a multicentric retrospective cohort study of antisynthetase syndrome (ASyS). We used a complementary unsupervised approach, hierarchical clustering, to delineate distinct phenotypes among ASyS patients with ILD.
Maxime Billotte, Thomas Moulinet, Alain Meyer, Houda Camara, Loïs Bolko, Kévin Didier, Sandra Dury, Bernard Bonnotte, Hervé Devilliers, Philippe Bonniaud, Guillaume Beltramo, Julien Campagne, Nadine Magy‐Bertrand, Aurore Chaudier, Simon Valentin, Roland Jaussaud, Paul Decker   +16 more
wiley   +1 more source

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

The Journal of Clinical Investigation
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
doaj   +1 more source

Dermatomyositis [PDF]

, 2008
Dermatomiosite é doença idiopática inflamatória crônica que afeta a musculatura estriada, a pele e outros órgãos. Apresenta critérios diagnósticos definidos por Bohan & Peter, podendo os pacientes ser classificados em cinco grupos: dermatomiosite juvenil,
ORTIGOSA, Luciena Cegatto Martins, REIS, Vitor Manoel Silva dos   +1 more
core   +2 more sources

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

The mitochondrial‐targeted antioxidant SkQ1 prevents skeletal muscle mitochondrial‐apoptotic but not necroptotic signalling during ovarian cancer

The Journal of Physiology, EarlyView.
Abstract figure legend An evaluation of the degree to which mitochondrial hydrogen peroxide emission (mH2O2)‐mediated apoptotic and necroptotic signalling contributes to skeletal muscle atrophy in an orthotopic epithelial ovarian cancer (EOC) model. To determine whether attenuating mH2O2 could prevent regulated cell death signalling and mitigate muscle
Shahrzad Khajehzadehshoushtar, Luca J. Delfinis, Fasih A. Rahman, Madison C. Garibotti, Shivam Gandhi, Aditya N. Brahmbhatt, Brooke A. Morris, Bianca Garlisi, Sylvia Lauks, Caroline Aitken, Leslie Ogilvie, Zhu‐Xu Zhang, Jeremy A. Simpson, Joe Quadrilatero, Jim Petrik, Christopher G. R. Perry   +15 more
wiley   +1 more source

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BMC Neurology, 2019
Background Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable
Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen, Meijia Zhu   +7 more
doaj   +1 more source

Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy [PDF]

, 2018
Oculopharyngeal muscular dystrophy (OPMD) is a progressive skeletal muscle dystrophy characterized by ptosis, dysphagia, and upper and lower extremity weakness.
Bieri, Oliver, Fasler, Susanne, Fischer, Dirk, Fischmann, Arne, Gloor, Monika, Haas, Tanja, Heinimann, Karl, Rodoni Wetzel, Rachele, Scheffler, Klaus, Wetzel, Stephan   +9 more
core  

Kidney disease impairs tendon function in rats

The Journal of Physiology, EarlyView.
Abstract figure legend This study demonstrates for the first time that tendon strength is reduced in a rodent model of chronic kidney disease (8 weeks of 0.25% adenine feeding) and confirms concurrent dysfunction in muscle and bone. These findings provide novel characterization of multiple tissues, paving the way for future investigations into the ...
Christopher M. T. Hayden, Natalie K. Gilmore, Benjamin Osipov, Sarah E. Brashear, Marc Gorge, Juang‐Yu Jen, Lucas R. Smith, Blaine A. Christiansen, Baback Roshanravan, Keith Baar   +9 more
wiley   +1 more source