Masayuki Yoshida

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

Hiroyuki Baba, Tadashi Hosoya, T. Yamaguchi, Takuji Itakura et autres

Multidisciplinary genomic evaluation is increasingly recognized for its diagnostic and therapeutic implications in adults with suspected inborn errors of immunity (IEI) presenting with rheumatic and musculoskeletal disease (RMD) phenotypes. We retrospectively analyzed 50 adults with suspected IEI who underwent genetic testing and …

jp (code pays fourni par la source)

PTEN negative adenocarcinoma developed in a gastric hamartoma polyp of a Cowden syndrome patient

Jumpei Suzuki, Bunichiro Kato, Hiro‐o Matsushita, Kenjiro Yoshikawa et autres

jp (code pays fourni par la source)

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy

Nozomi Toide, Ryo Iwase, Mitsugu Yanagidaira, Sumihito Togi et autres

GNE myopathy is a rare autosomal recessive myopathy caused by biallelic pathogenic variants in GNE, which encodes an essential enzyme for sialic acid biosynthesis. Most variants are located in exonic regions, whereas significance of intronic variants remains unclear, leaving many suspected cases …

jp (code pays fourni par la source)

Press release guide for genomic research and medicine: a framework co-developed with public contributors in Japan

Misaki Arakawa, Tomoyo Takeuchi, Yusuke Ebana, Kaori Muto et autres

Press releases on genomic research play an important role in Japan. Not only do journalists use them as major sources of news stories, but the public also accesses them directly across various media platforms. Given the unique characteristics of genomic information, including …

jp (code pays fourni par la source)

Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer

Shu Yazaki, Rui Kitadai, Yukihide Momozawa, Teruhiko Yoshida et autres

Only 15% of young-onset breast cancers have identifiable hereditary germline pathogenic variants (PVs) in an established breast cancer susceptibility gene. However, it is believed that a significant proportion of these breast cancers have additional monogenic or rare risk variants that require identification. …

jp, gb (code pays fourni par la source)

Implementation of risk-reducing surgery for HBOC under public insurance in Japan: a single-center experience

Hiroko Terui-Kohbata, Sayako Takahashi, Eriko Takamine, Mariko Komine et autres

6.5 months for RRM and 11.3 months for RRSO.Importantly, RRSO was significantly delayed among BRCA2 carriers compared with BRCA1 carriers (15.2 vs. 6.4 months, p = 0.02).The only three women who have continued to defer RRSO did so due to fertility considerations.Before …

jp, gb (code pays fourni par la source)

Implementation of Risk-Reducing Surgery for HBOC Under Public Insurance in Japan: A Single-Center Experience

Hiroko Terui-Kohbata, Sayako Takahashi, Eriko Takamine, Mariko Komine et autres

jp (code pays fourni par la source)

Simultaneous STING and lymphotoxin-β receptor activation induces B cell responses in tertiary lymphoid structures to potentiate antitumor immunity

Junko Sawada, Maxwell Duah, José Luís Herrera, Fumiaki Kanamori et autres

Abstract B cell-rich tertiary lymphoid structures (TLS) are associated with favorable prognosis and positive response to immunotherapy in cancer. Here we show that simultaneous activation of innate immune effectors, STING and lymphotoxin-β receptor (LTβR), results in CD8 + T cell-dependent tumor suppression …

us, gb (code pays fourni par la source)

Predictive Genetic Testing and Genetic Counseling for Hereditary Neuromuscular Diseases in Japan: A Case Series of 40 Clients

Makiko Egawa, Taro Ishiguro, Eriko Takamine, Sayako Takahashi et autres

ABSTRACT Background With advances in genetic medicine, the number of clients considering predictive genetic testing (PT) for hereditary neuromuscular diseases has increased, in which genetic counseling (GC) plays an important role. Aim We conducted a retrospective analysis of PT and associated GC …

jp (code pays fourni par la source)

Copy number and structural variant analyses of VHL gene using droplet digital PCR and targeted adaptive sampling long-read sequencing

Shota Kato, Hiroko Terui-Kohbata, Atsushi Kudo, Masafumi Seki et autres

jp (code pays fourni par la source)

Survey on the Current Status of Perinatal Management among Women with Familial Hypercholesterolemia in Japan

Makiko Egawa, Masami Ikeda, Hayato Tada, Mariko Harada‐Shiba et autres

AIM: Women with familial hypercholesterolemia (FH) face specific challenges during pregnancy and childbirth, such as treatment restrictions and the absence of guidelines. This study therefore assessed the status of perinatal management and the needs of women with FH. METHODS: We contacted 240 …

jp (code pays fourni par la source)

JCS/JCC/JACR/JATS 2024 guideline on cardiovascular practice with consideration for diversity, equity, and inclusion

Yayoi Tsukada, Chizuko Aoki‐Kamiya, Atsushi Mizuno, Atsuko Nakayama et autres

Clinical Question (CQ) ListCQ1.Should Sex/Gender Differences Be Considered in Comprehensive Cardiac Rehabilitation (CR) for Women With Heart Failure (HF)?Recommendation Comprehensive CR for women with HF can improve exercise tolerance and prognosis as well as or better than that in men.However, it is …