Objective: To identify mutations in () for Japanese patients with suspected chorea-acanthocytosis (ChAc).
Methods: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases.
Results: We identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60-61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan.
Conclusions: We identified 13 different mutations in , including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.
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http://dx.doi.org/10.1212/NXG.0000000000000332 | DOI Listing |
JAMA
January 2025
Institut Jules Bordet, l'Université Libre de Bruxelles and Hôpital Universitaire de Bruxelles, Brussels, Belgium.
Importance: Triple-negative breast cancer is an aggressive subtype with a high incidence in young patients, a high incidence in non-Hispanic Black women, and a high risk of progression to metastatic cancer, a devastating sequela with a 12- to 18-month life expectancy. Until recently, one strategy for treating early-stage triple-negative breast cancer was chemotherapy after surgery. However, it was not known whether the addition of immune therapy to postsurgery chemotherapy would be beneficial.
View Article and Find Full Text PDFJ Gastroenterol
January 2025
Department of Gastroenterology and Hepatology, Kyorin University School of Medicine, Mitaka, Japan.
Background: Despite the availability of several biologics for ulcerative colitis (UC), there remains a critical need to identify first-line treatment biologics. The superiority of infliximab (IFX) over vedolizumab (VED) and ustekinumab (UST) was evaluated as initial UC treatments in patients with biologic-naïve UC.
Methods: This multicenter, randomized control trial was conducted across 20 Japanese medical institutions.
Mod Rheumatol Case Rep
January 2025
Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, Osaka, Japan.
Peripheral neuropathy is a complication in systemic sclerosis that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with systemic sclerosis that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests.
View Article and Find Full Text PDFRes Pract Thromb Haemost
January 2025
Department of Emergency and Critical Care Medicine, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Background: Acute aortic dissection is a life-threatening cardiovascular emergency with high mortality rates. Disseminated intravascular coagulation (DIC) is a critical complication in patients with acute aortic dissection; however, its incidence and impact on outcomes remain inconclusive.
Objectives: This study aimed to evaluate DIC prevalence and prognosis in patients with aortic dissection.
Front Med (Lausanne)
January 2025
Department of Respiratory Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Background: There is a paucity of real-world data on patients with interstitial lung diseases (ILDs) that are progressive, other than idiopathic pulmonary fibrosis (IPF), including treatment patterns and attitudes toward treatment. This study aimed to investigate the diagnosis, clinical characteristics, treatment paradigm and current decision-making practices of IPF and progressive pulmonary fibrosis (PPF) in a Japanese real-world setting.
Methods: Data were drawn from the Adelphi Real World PPF-ILD Disease Specific Programme™, a cross-sectional survey with retrospective data collection of pulmonologists and rheumatologists in Japan from April to October 2022.
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