Publications by authors named "Muro Yoshinao"
Article Synopsis
- Recent identification of specific autoantibodies in various idiopathic inflammatory myopathies (like dermatomyositis and anti-synthetase syndrome) highlights their importance in diagnosis and treatment.
- These autoantibodies vary in terms of which organs they affect, severity of disease, and how patients respond to treatments, which is key for developing effective therapies.
- The review discusses findings such as the role of anti-TIF1γ antibodies in mice models, changes in gene expression in muscle tissues from patients with anti-Mi2 antibodies, and the activation of T cells by the Jo-1 antigen, contributing to the understanding of myositis pathogenesis.
Article Synopsis
- Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin condition caused by mutations in at least 12 genes, primarily ABCA12, resulting in different types like congenital ichthyosiform erythroderma and lamellar ichthyosis.
- This study aimed to identify previously unknown pathogenic variants in ABCA12 and update the understanding of how these genetic changes affect patient symptoms.
- Researchers discovered 11 new ABCA12 variants and confirmed their impact through genetic sequencing, increasing the knowledge of disease severity and phenotypes associated with these genetic mutations in ichthyosis patients.
Objective: Idiopathic inflammatory myopathies (IIMs) are autoimmune disorders significantly impacting skeletal muscles; however, the precise correlation between muscle magnetic resonance imaging (MRI) findings, muscle pathology, disease subtypes and clinical characteristics remains uncertain. Thus, we investigated the association of muscle MRI findings in IIMs with muscle pathology and clinical features.
Methods: New-onset IIM patients underwent proximal upper and/or lower limb muscle MRI.
Article Synopsis
- * The study presents cases of siblings and an additional patient with ABCA12 variants who exhibited symptoms not typical of congenital ichthyosis, instead resembling pityriasis rubra pilaris (PRP).
- * All three patients displayed unique skin characteristics, such as geographic unaffected areas, and had similar histological features to PRP, indicating a broader range of possible symptoms associated with ABCA12 variants than previously understood.