Results 131 to 140 of about 48,191 (258)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Idiopathic inflammatory myopathy associated with Sjögren's disease: features of a distinct clinical entity. [PDF]

Front Immunol
Konen FF, Güzeloglu YE, Seeliger T, Jendretzky KF, Nay S, Grote-Levi L, Schwenkenbecher P, Gründges C, Ernst D, Witte T, Skripuletz T.   +10 more
europepmc   +1 more source

The 2025 ATS/ERS update of the international multidisciplinary classification of the interstitial pneumonias: implications for the pathologist

Histopathology, Volume 89, Issue 3, Page 403-425, September 2026.
This review highlights changes relevant to pathologists in the updated multidisciplinary classification of interstitial pneumonias. Changes include expansion beyond idiopathic disease, subclassification as interstitial (fibrotic vs non‐fibrotic) and alveolar filling disorders, expansion to include additional patterns (e.g.
Andrew G Nicholson, Wendy A. Cooper, Aurelie Fabre, William Travis, Lida P. Hariri, Ayodeji Adegunsoye, Sara Piciucchi, Christopher J Ryerson   +7 more
wiley   +1 more source

Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis. [PDF]

Acta Neuropathol
Kleefeld F, Teran Gamboa J, Pinal-Fernandez I, Preusse C, Nelke C, Goebel HH, Mensch A, Mossakowski A, Miah MU, Diaz-Manera J, Torchia E, Bortolani S, Hentschel A, Funke A, Souvannanorath S, Authier FJ, Malfatti E, Gehrig J, Mammen AL, Casal-Dominguez M, De Winter J, De Ridder W, Ruck T, Schneider U, Roos A, Gallardo E, Tasca G, Stenzel W.   +27 more
europepmc   +1 more source

COVID‐19 Vaccination Is Not Associated With the Development of Idiopathic Inflammatory Myositis in US Veterans

Arthritis Care &Research, Volume 78, Issue 8, Page 1078-1085, August 2026.
Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández, Naomi Schlesinger, Jorge Rojas, Jessica A. Walsh, Tawnie J. Braaten, Gary A. Kunkel, Makoto Jones, Brian C Sauer, Julio Facelli, Grant W. Cannon, Dorota Lebiedz‐Odrobina   +10 more
wiley   +1 more source

Cardiac Magnetic Resonance Imaging Markers in Idiopathic Inflammatory Myopathy: Correspondence. [PDF]

Ann Indian Acad Neurol
Daungsupawong H, Wiwanitkit V.
europepmc   +1 more source

Outcomes of Immune Check Point Inhibitor Use in US Veterans With Pre‐Existing Idiopathic Inflammatory Myopathies: Case Series and Literature Review

ACR Open Rheumatology, Volume 8, Issue 8, August 2026.
Objective Our objective was to identify and describe the clinical characteristics and outcomes in patients with pre‐existing idiopathic inflammatory myopathies (IIMs) in the Veterans Health Administration (VHA) treated with immune checkpoint inhibitors (ICIs). Methods All veterans receiving ICI infusions were identified.
Denis Krutko, Selene Rubino, Gary A. Kunkel, Jessica A. Walsh, Jorge Rojas, Brian C. Sauer, Shardool Patel, Grant W. Cannon, Tawnie J. Braaten   +8 more
wiley   +1 more source

Case report: Efgartigimod combined with intravenous methylprednisolone in a case of co-occurrence of unexplained myasthenia gravis, inflammatory myopathy, and fulminant myocarditis. [PDF]

Front Immunol
Yang H, Pan Z, Yang Y, Wang Y, Cheng B, Qi G.   +5 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Serum KL-6 and lung ultrasound B-lines: a combined non-invasive model for screening and predicting interstitial lung disease in idiopathic inflammatory myopathy. [PDF]

RMD Open
Zhang W, Zheng Q, Zheng S, Du G, Zhang Q, Wu S, Huang G, Zhou Z, Zheng K, Lin J, Hu S, Lin Q, Zhuang J, Chen Q, Ruaro B, Hoffmann-Vold AM, Matucci-Cerinic M, Furst DE, Chen S, Wang Y.   +19 more
europepmc   +1 more source