Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00415-012-6540-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Implementation of the new DGRh S2e guideline on diagnostics and treatment of adult-onset Still's disease in Germany : Implications for clinical practice in rheumatology.
Z Rheumatol
December 2024
Helios Clinic Vogelsang-Gommern, Sophie-v.-Boetticher-Straße, 39245, Gommern, Germany.
Background: Adult-onset Still's disease (AOSD) is a rare autoinflammatory disease. Since it can lead to variable organ involvement, including life-threatening complications, and due to newly available therapeutic approaches, the German Society for Rheumatology and Clinical Immunology (Deutsche Gesellschaft für Rheumatologie und klinische Immunologie; DGRh) issued a newly developed S2e guideline in December 2022.
Objective: This study aims to investigate the influence of the new guideline on the diagnosis, management, and outcomes of AOSD.
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.
J Neurol Neurosurg Psychiatry
December 2024
Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UK
Background: Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown (the only population-based prevalence was estimated at one in 2.7 million).
View Article and Find Full Text PDFCharacterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Arthritis Rheumatol
November 2024
University of Leeds, St James's University Hospital, and National Institute for Health and Care Research Leeds Biomedical Centre, Chapel Allerton Hospital, Leeds, United Kingdom.
Article Synopsis
- Adult-onset Still's disease (AOSD) is a complex autoinflammatory disorder with unclear causes, and this study aims to explore its genetic background and potential treatment targets.
- Researchers analyzed 60 AOSD patients using advanced genetic techniques and blood profiling to uncover rare genetic variants and inflammation markers.
- Results indicated a higher frequency of certain genetic variants and significant elevation of specific cytokines and immune system markers in AOSD patients, suggesting a complicated genetic landscape that could lead to new approaches in treatment.
Tadpole Brainstem Atrophy in Adult-Onset Alexander Disease: A Case Report and Review of Literature.
Ann Indian Acad Neurol
November 2024
Department of Neurology, Institute of Medical Sciences and Sum Hospital, Bhubaneswar, Odisha, India.
Disorders with prominent posterior fossa involvement.
Handb Clin Neurol
September 2024
Neurology Department, University of Montpellier, Montpellier University Hospital, INSERM, Reference Center for Adult-Onset Leukoencephalopathies, Montpellier, France. Electronic address:
Inherited white matter disorders include a wide range of disorders of various origins with distinct genetic, pathophysiologic, and metabolic backgrounds. Although most of these diseases have nonspecific clinical and radiologic features, some display distinct clinical and/or imaging (magnetic resonance imaging, MRI) characteristics that might suggest the causative gene. Recent advances in genetic testing allow assessing gene panels that include several hundred genes; however, an MRI-based diagnostic approach is important to narrow the choice of candidate genes, particularly in countries where these techniques are not available.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!