Results 101 to 110 of about 48,457 (271)

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
A novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Bashayer Alnuaimi   +5 more
wiley   +1 more source

Immune-Mediated Necrotizing Myopathy: An Often Misdiagnosed Entity

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2015
Immune-mediated necrotizing myopathies (IMNM) are recognized as a subgroup of idiopathic inflammatory myopathies (IIM). IMNM are defined based on a combination of clinical presentation and laboratory studies, requiring a specific myopathological pattern ...
Joana Almeida Espírito Santo   +4 more
doaj   +1 more source

Molecular mechanisms in idiopathic inflammatory myopathies [PDF]

open access: yes, 2014
Background: Myositis is a group of rare autoimmune diseases. Muscle weakness and fatigue are the dominant symptoms and inflammation with T cells and macrophages is a characteristic finding in muscle tissue.
Zong, Mei
core   +1 more source

Non-invasive differentiation of idiopathic inflammatory myopathy with cardiac involvement from acute viral myocarditis using cardiovascular magnetic resonance imaging T1 and T2 mapping

open access: yesJournal of Cardiovascular Magnetic Resonance, 2018
BackgroundIdiopathic inflammatory myopathy (IIM) is a group of autoimmune diseases with systemic myositis which may involve the myocardium. Cardiac involvement in IIM, although often subclinical, may mimic clinical manifestations of acute viral ...
A. Huber   +12 more
semanticscholar   +1 more source

Keeping Up With School During Hospitalization for Children With Chronic Illnesses, Siblings and Parents

open access: yesChild: Care, Health and Development, Volume 51, Issue 6, November 2025.
ABSTRACT Background Children who have chronic illnesses (CIs) and their siblings often miss school when the child with a CI is hospitalized. Understanding the perspectives of the child with an illness, siblings and parents will provide information about how they keep up with schoolwork, their perceptions of not being in school, or of homeschooling that
Margaret Wazevich   +4 more
wiley   +1 more source

Miopatia induzida pelo vírus influenza A (H1N1): uma complicação extrapulmonar importante [PDF]

open access: yes, 2012
Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Department of Neurology and NeurosurgeryUNIFESP, EPM, Department of Neurology and ...
Oliveira, Acary Souza Bulle
core   +2 more sources

Diagnosis and treatment of occipital brain lesions in children

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini   +4 more
wiley   +1 more source

Anti-Signal Recognition Particle Myopathy in a Geriatric Patient

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2015
Anti-signal recognition particle (SRP) myopathy is a rare idiopathic inflammatory myositis that usually affects middle-age women, and is characterized by rapidly progressive proximal and symmetrical muscle weakness, elevated creatine kinase levels ...
Diana Marques Ferreira   +4 more
doaj   +1 more source

Why do patients with myositis die? A retrospective analysis of a single-centre cohort [PDF]

open access: yes, 2016
OBJECTIVES: Causes of death in inflammatory myopathies have rarely been studied. We have assessed a cohort of myositis patients followed in a single centre over a 37-year period, reviewing the mortality rate, causes of death and predictors of poor ...
Cogollo, E, Isenberg, DA, Silva, MA
core  

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