From the Guidelines
The anti-Jo-1 antibody is the most common myositis-specific autoantibody, found in approximately 20% of adult patients with idiopathic inflammatory myopathy (IIM) 1. When evaluating patients with IIM, it is essential to consider the clinical associations and frequencies of various myositis-specific autoantibodies.
- The anti-synthetase antibodies, including Jo-1, PL-7, PL-12, OJ, EJ, KS, Ha, and Zo, are associated with distinct clinical features such as mechanic’s hands, arthritis, Raynaud phenomenon, interstitial lung disease (ILD), and myositis 1.
- The anti-Mi2 antibody is associated with classic cutaneous features of dermatomyositis, including Gottron papules, shawl sign, cuticle overgrowth, V-sign, and heliotrope rash 1.
- The anti-SRP antibody is directed against the signal recognition particle and is associated with necrotizing myopathy, acute in onset, with dilated cardiomyopathy and a poor response to standard immunosuppression 1. In clinical practice, identifying the specific myositis-specific autoantibody present in a patient can help guide treatment decisions and predict disease course.
- For example, patients with anti-Jo-1 antibody may require more aggressive treatment for ILD and arthritis, while those with anti-SRP antibody may require more intensive immunosuppression due to the poor response to standard therapy 1. Overall, understanding the clinical associations and frequencies of myositis-specific autoantibodies is crucial for providing optimal care for patients with IIM.
From the Research
TRNT1 Overview
- TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs) 2
- The disease is characterized by infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhea, global electrolyte imbalance, sideroblastic anemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency, and renal tubulopathy 2
- TRNT1 mutations can cause a spectrum of disease ranging from a childhood-onset complex disease with manifestations in most organs to an adult-onset isolated retinitis pigmentosa presentation 2, 3
Clinical Features and Management
- Clinical features of TRNT1 deficiency include sensorineural deafness, cerebellar atrophy, brittle hair, partial villous atrophy, and nephrocalcinosis 2
- Acute management of TRNT1 deficiency includes transfusion for anemia, fluid and electrolyte replacement, and immunoglobulin therapy 2
- Bone marrow transplantation has been shown to resolve fever and reverse the abnormal metabolic profile in one patient 2
Relationship to Other Conditions
- There is no direct relationship between TRNT1 and paracetamol (acetaminophen) in the provided studies 4, 2, 3, 5, 6
- Paracetamol is a widely used drug for fever and acute pain, but its mechanism of action is not fully understood 4
- TRNT1 is associated with various diseases, including sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency 3