Results 81 to 90 of about 1,059,580 (243)

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
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Cancer in Systemic Sclerosis: Clinical Associations and Prognostic Impact From the EUSTAR Registry

Arthritis &Rheumatology, EarlyView.
Objective Cancer represents a major cause of death in systemic sclerosis (SSc). Established risk factors are limited to specific subsets, particularly early diffuse anti‐RNA polymerase III (POLR3)–positive disease, needing further exploration. Methods We performed a nested case‐control study within the European Scleroderma Trials and Research group ...
Antonio Tonutti, Francesca Motta, Liala Moschetti, Cosimo Bruni, Carina Mihai, Claudia Iannone, Maria Rosa Pellico, Stefano Stano, Stefano Erba, Claudia Barison, Eleonora Pazzi, Andrea Benini, Beatrice Moccaldi, Kurszán Jász Dávid, Ágnes Ágoston‐Szabó, Beatrice Gabrielli, Francesca Nava, Dóra Tari, Francesca Romana Di Ciommo, Yuri Sasaki, Gonçalo Boleto, Radim Bečvář, Alejandro Brigante, Britta Maurer, Massimiliano Limonta, Rahma A. Elziaty, Fabiola Atzeni, Lilian Maria López Núñez, Roberta Foti, Francesco Benvenuti, Brigitte Granel, Elena Rezus, Leila Caillault, Sophie Blaise, Cristiana Sieiro Santos, Fabio Cacciapaglia, Roberto Giacomelli, Rossella De Angelis, Serena Guiducci, Duygu Temiz Karadag, Gabriella Szűcs, Luca Idolazzi, Gábor Kumánovics, Florenzo Iannone, Maurizio Cutolo, Gianluca Moroncini, Valeria Riccieri, Nicoletta Del Papa, Elisabetta Zanatta, Oliver Distler, Masataka Kuwana, Carlo Selmi, Maria De Santis   +52 more
wiley   +1 more source

A case of generalized argyria presenting with muscle weakness

Annals of Occupational and Environmental Medicine, 2017
Background Argyria is a rare irreversible cutaneous pigmentation disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with ...
Inha Jung, Eun-Jeong Joo, Byung seong Suh, Cheol-Bae Ham, Ji-Min Han, You-Gyung Kim, Joon-Sup Yeom, Ju-Yeon Choi, Ji-Hye Park   +8 more
doaj   +1 more source

Plasma Proteome Reflects Tissue Damage and Clinical Manifestations in Patients With Inflammatory Myopathies

Arthritis &Rheumatology, EarlyView.
Objective Tissue‐specific biomarkers that are reliable and associated with clinical manifestations of idiopathic inflammatory myopathy (IIM) are lacking. The blood circulation in individuals serves as a central conduit, allowing communication between tissues and facilitating clearance and recycling of tissue‐derived proteins.
Yue‐Bei Luo, Josefin Kenrick, Angeles S. Galindo‐Feria, Antonella Notarnicola, Ana Daniela Ulloa Navas, Irene Peralta‐Garcia, Orane Demuynck, Andrea Kemp, Valérie Leclair, Karin Lodin, Eveline Van Gompel, Lara Dani, Fabricio Espinosa‐Ortega, Maryam Dastmalchi, Leonid Padyukov, Charlotta Preger, María Bueno Álvez, Mathias Uhlén, Peter Nilsson, Fredrik Edfors, Lina‐Marcela Diaz‐Gallo, Elisa Pin, Ingrid E. Lundberg, Begum Horuluoglu   +23 more
wiley   +1 more source

Expert Perspective: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, Accepted Article.
Treat‐to‐target (T2T) has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal T2T framework for adult IIM has not yet been established.
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice

Diagnostics
Background/Objectives: Muscle biopsy is traditionally considered a cornerstone in the diagnosis of myopathies. Advances in the clinical and laboratory evaluation of myopathies warrant re-evaluation of the diagnostic yield.
Vera E. A. Kleinveld, Julia Wanschitz, Anna Hotter, Johannes A. Mayr, Romana Höftberger, Wolfgang N. Löscher, Corinne G. C. Horlings   +6 more
doaj   +1 more source

SAPHO Syndrome Presenting With Severe Inflammatory Back Pain (Sacroiliitis) and Rare Retinol Associated Myopathy in an Iraqi Adolescent Male: A Case Report and Literature Review

Clinical Case Reports
SAPHO syndrome is a rare autoinflammatory disorder characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. Although musculoskeletal and dermatologic manifestations are well recognized, extra‐articular involvement remains uncommon ...
Farah Jaafar Mahdi, Ali Saad Al‐Shammari, Mustafa Majid Hameed, Marwah Sami Ahmed, Ibrahim Khalil, Zahraa Saeed Fahad, Ahmed Dahham Hasan, Nizar Abdulateef Jassim   +7 more
doaj   +1 more source

Anti-HMGCR myopathy: a first case report from North Africa and literature insights

Frontiers in Immunology
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement.
Houssem Abida, Houssem Abida, Imen Zamali, Imen Zamali, Imen Zamali, Imène Rachdi, Imène Rachdi, Zakaria Saied, Zakaria Saied, Ahlem Ben Hmid, Ahlem Ben Hmid, Ahlem Ben Hmid, Samar Samoud, Samar Samoud, Yousr Galai, Fatma Daoud, Fatma Daoud, Fatma Boussema, Fatma Boussema, Samia Ben Sassi, Samia Ben Sassi, Zohra Aydi, Zohra Aydi, Mélika Ben Ahmed, Mélika Ben Ahmed, Mélika Ben Ahmed   +25 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Scleromyxedema and inflammatory myopathy: A clinicopathology study of three patients

, 1986
Scleromyxedema (lichen myxedematosus is a rare cutaneous manifestation in patients with idiopathic inflammatory myopathy. The clinical and histological findings in three patients with this association are presented. Two patients had a severe inflammatory
Mastaglia, F.L., Cheah, P.S., Zilko, P.J., Ojeda, V.J., Harvey, J.M.   +4 more
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