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ANSDに対する遺伝子解析とその臨床像に関する検討
No full text研究種目：若手研究(B)研究期間：2014～2016課題番号：26861364研究代表者：岩佐 陽一郎研究者番号：10613002Other2014～2016年度科学研究費助成事業（若手研究(B)）研究成果報告書 課題番号：26861364 研究代表者：岩佐 陽一郎research repor
Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever
No full textObjectivesThe genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.MethodsGenotypes of HLA-B and -DRB1 loci were determined for 258 mutually unrelated Japanese FMF patients, who satisfied modified Tel-Hashomer criteria, and 299 healthy controls. The effects of carrier status were evaluated for the risk of FMF by odds ratio (OR). The HLA effects were also assessed for clinical forms of FMF, subsets of FMF with certain MEFV genotypes and responsiveness to colchicine treatment.ResultsThe carriers of B*39:01 were increased in the patients (OR = 3.25, p = 0.0012), whereas those of DRB1*15:02 were decreased (OR = 0.45, p = 0.00050), satisfying Bonferroni’s correction for multiple statistical tests (n = 28, p<0.00179). The protective effect of DRB1*15:02 was completely disappeared in the co-existence of B*40:01. The HLA effects were generally augmented in the patients without a canonical MEFV variant allele M694I, in accordance with the notion that the lower penetrance of the mutations is owing to the larger contribution of modifier genes in the pathogenesis, with a few exceptions. Further, 42.9% of 14 colchicine-resistant patients and 13.5% of 156 colchicine-responders possessed B*35:01 allele, giving OR of 4.82 (p = 0.0041).ConclusionsThe differential effects of HLA class I and class II polymorphisms were identified for Japanese FMF even in those with high-penetrance MEFV mutations.ArticlePLOS ONE.10(5):e0125938(2014)journal articl
Phase II study of ipilimumab monotherapy in Japanese patients with advanced melanoma
No full textPurposeIpilimumab is designed to block cytotoxic T-lymphocyte antigen-4 to augment antitumor T cell responses. In studies of predominantly Caucasian patients with advanced melanoma, ipilimumab was associated with durable response, long-term survival benefit, and a manageable safety profile. This phase II study assessed the safety of ipilimumab in Japanese patients with unresectable stage III or IV melanoma.MethodsPatients received ipilimumab 3 mg/kg every 3 weeks for four doses. The database lock for the original analysis was in August 2014. Overall survival, progression-free survival, and data on deaths were based on an updated, follow-up analysis (database lock April 2015).ResultsData are reported from 20 patients. Fifteen patients (75 %) received all four doses of ipilimumab during induction. Twelve patients (60 %) had at least one drug-related adverse event (AE), and no patients discontinued due to a drug-related AE. There were no deaths related to study drug. The most common drug-related AEs were rash (n = 7), pyrexia (n = 3), increased aspartate aminotransferase (AST; n = 3), and increased alanine aminotransferase (ALT; n = 3). Twelve patients (60 %) reported immune-related AEs (irAEs); most frequent were skin (n = 9) and liver (n = 3) disorders. Grade 3 irAEs were ALT and AST elevation (n = 2) and diabetes mellitus (n = 1). Two patients had a partial response and two had stable disease, yielding a 20 % disease control rate. Median overall survival and progression-free survival were 8.71 and 2.74 months, respectively.ConclusionIpilimumab 3 mg/kg had a manageable AE profile in this Japanese patient population with clinical outcomes similar to that in Caucasian patients.ArticleCANCER CHEMOTHERAPY AND PHARMACOLOGY.76(5):997-1004(2015)journal articl
IgA/IgG Pemphigus with Infiltration of Neutrophils and Eosinophils in an Ulcerative Colitis Patient
No full textArticleACTA DERMATO-VENEREOLOGICA.94(6):737-738(2014)journal articl
Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis
No full textFormerly termed primary biliary cirrhosis, primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease characterized by the presence of antimitochondrial antibodies. Ursodeoxycholic acid (UDCA) therapy is the most effective and approved treatment for PBC and leads to a favorable outcome in the vast majority of cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. Individuals in different geographic regions of the world may have varying susceptibility alleles that reflect indigenous triggering antigens. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies (GWAS) on this disease.ArticleJOURNAL OF IMMUNOLOGY RESEARCH. :3073504(2017)journal articl
Expression of Mucin 1 in Mycosis Fungoides Tumour Cells: A Case Report
No full textArticleACTA DERMATO-VENEREOLOGICA.97(6):747-748(2017)journal articl
Rapid Progression of Hidradenitis Suppurativa in the Lower Leg of a Patient with Psoriasis Vulgaris
No full textArticleACTA DERMATO-VENEREOLOGICA.92(1):105-106(2012)journal articl
A Case of Epidermolysis Bullosa Acquisita Associated with Laryngeal Stenosis
No full textArticleACTA DERMATO-VENEREOLOGICA.92(1):93-94(2012)journal articl
Psoriasiform Eruption Localized to a Previously Irradiated Area
No full textArticleACTA DERMATO-VENEREOLOGICA.91(4):469(2011)journal articl
アメリカ合衆国における再生可能エネルギーの普及促進に関する近時の動向と法的課題(2) : 水力・地熱を中心とした日本への示唆
No full textArticle信州大学経法論集 4:1-49(2018)departmental bulletin pape