Publications by authors named "Rena Motohashi"
Article Synopsis
- This study aimed to improve the detection of somatic UBA1 variants in patients suspected of having VEXAS syndrome and to create a scoring system to identify those with pathogenic variants.
- Researchers analyzed 89 Japanese patients (mostly male, median age 69.3 years) using advanced genetic techniques such as PNA-PCR and deep sequencing to screen for UBA1 variants.
- They found that 44.9% of patients had pathogenic variants, and their scoring system, which included factors like age and specific symptoms, effectively predicted the presence of these variants with a high accuracy (AUC of 0.908).
Objectives: Anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody-positive and age at onset ≥60 years are poor prognosis factors in polymyositis (PM) and dermatomyositis (DM) associated with interstitial lung disease (ILD) among Japanese patients. However, the influence of age on the clinical features of anti-MDA5 autoantibody-positive patients with DM remains unclear.
Methods: We retrospectively examined 40 patients with DM and anti-MDA5 autoantibodies according to age.
A 69-year-old woman who presented with severe renal dysfunction and diffuse alveolar hemorrhage was diagnosed with pulmonary-renal syndrome (PRS) based on the coexistence of serum myeloperoxidase (MPO)-antineutrophil cytoplasmic antibodies (ANCA) and anti-glomerular basement membrane (GBM) antibodies (Ab). Hemodialysis was started; plasma exchange and intravenous methylprednisolone pulse therapy were administered followed by oral prednisolone administration. Pulmonary hemorrhage decreased; however, renal dysfunction persisted.
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