The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Autor: Inoue T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan., Takase R; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan., Uchida K; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. keiuchid@keio.jp.; Keio University Health Center, Tokyo, Japan. keiuchid@keio.jp., Kodo K; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Suda K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan., Watanabe Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Fukuoka, Japan., Yoshiura KI; Department of Human Genetics, Division of Advanced Preventive Medical Sciences, Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Kunimatsu M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.; Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan., Ishizaki R; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Azuma K; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan., Inai K; Department of Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women's Medical University, Tokyo, Japan., Muneuchi J; Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Kitakyushu, Japan., Furutani Y; Department of Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women's Medical University, Tokyo, Japan., Akagawa H; Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan., Yamagishi H; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.; Center for Preventive Medicine, Keio University School of Medicine, Tokyo, Japan.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 May; Vol. 69 (5), pp. 215-222. Date of Electronic Publication: 2024 Feb 26.

JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.

Autor: Imai Y; Division of Clinical Pharmacology and Division of Cardiovascular Medicine, Jichi Medical University., Kusano K; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center., Aiba T; Department of Clinical Laboratory Medicine and Genetics, National Cerebral and Cardiovascular Center., Ako J; Department of Cardiovascular Medicine, Kitasato University School of Medicine., Asano Y; Department of Genomic Medicine, National Cerebral and Cardiovascular Center., Harada-Shiba M; Cardiovascular Center, Osaka Medical and Pharmaceutical University., Kataoka M; The Second Department of Internal Medicine, University of Occupational and Environmental Health., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine., Kubo T; Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University., Matsumura T; Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University., Minamino T; Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University., Minatoya K; Department of Cardiovascular Surgery, Graduate School of Medicine, Kyoto University., Morita H; Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo., Nishigaki M; Department of Genetic Counseling, International University of Health and Welfare., Nomura S; Department of Frontier Cardiovascular Science, Graduate School of Medicine, The University of Tokyo., Ogino H; Director of Cardiovascular Surgery, Kitano Hospital., Ohno S; Medical Genome Center, National Cerebral and Cardiovascular Center., Takamura M; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences., Tanaka T; Department of Human Genetics and Disease Diversity, Tokyo Medical and Dental University., Tsujita K; Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University., Uchida T; Department of Surgery II (Division of Cardiovascular, Thoracic and Pediatric Surgery), Yamagata University Faculty of Medicine., Yamagishi H; Center for Preventive Medicine, Keio University School of Medicine., Ebana Y; Life Science and Bioethics Research Center, Tokyo Medical and Dental University Hospital., Fujita K; Department of Cardiovascular Medicine, The University of Tokyo Hospital.; Department of Computational Diagnostic Radiology and Preventive Medicine, Graduate School of Medicine, The University of Tokyo., Ida K; Division of Counseling for Medical Genetics, National Cerebral and Cardiovascular Center., Inoue S; Department of Cardiovascular Medicine, The University of Tokyo Hospital., Ito K; Laboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences., Kuramoto Y; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine., Maeda J; Department of Cardiology, Tokyo Metropolitan Children's Medical Center., Matsunaga K; Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University., Neki R; Division of Counseling for Medical Genetics, Department of Obstetrics and Gynecology, National Cerebral and Cardiovascular Center., Sugiura K; Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University., Tada H; Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University., Tsuji A; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center., Yamada T; Hikari Home Clinic., Yamaguchi T; Center for Medical Genetics, Shinshu University Hospital., Yamamoto E; Department of Cardiovascular Medicine, Kumamoto University Hospital., Kimura A; Institutional Research Office, Tokyo Medical and Dental University., Kuwahara K; Department of Cardiovascular Medicine, Shinshu University School of Medicine., Maemura K; Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences., Minamino T; Department of Cardiovascular Biology and Medicine, Juntendo University Graduate School of Medicine., Morisaki H; Department of Medical Genetics, Sakakibara Heart Institute., Tokunaga K; Genome Medical Science Project, National Center for Global Health and Medicine.

Publikováno v: Circulation journal : official journal of the Japanese Circulation Society [Circ J] 2024 Nov 25; Vol. 88 (12), pp. 2022-2099. Date of Electronic Publication: 2024 Sep 27.

C-H functionalization of camphor through emerging approaches.

Autor: Sennari G; Department of Chemistry, University of California, Berkeley, CA 94720, United States.; Ōmura Satoshi Memorial Institute and Graduate School of Infection Control Sciences, Kitasato University, 5-9-1 Shirokane, Minato-ku, Tokyo 108-8641, Japan., Yamagishi H; Department of Chemistry, University of California, Berkeley, CA 94720, United States., Sarpong R; Department of Chemistry, University of California, Berkeley, CA 94720, United States.

Publikováno v: Chemistry letters [Chem Lett] 2024 Oct 30; Vol. 53 (11), pp. upae204. Date of Electronic Publication: 2024 Oct 30 (Print Publication: 2024).

Methylprednisolone pulse and prednisolone for intensification of primary treatment in Kawasaki disease patients at high risk of treatment resistance: a multicenter prospective cohort study.

Autor: Miura M; Department of Cardiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai Fuchu, Tokyo, 183-8561, Japan. masaru10miura@gmail.com., Miyata K; Department of Cardiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai Fuchu, Tokyo, 183-8561, Japan., Kaneko T; Clinical Research Support Center, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.; Teikyo Academic Research Center, Teikyo University, Tokyo, Japan., Akahoshi S; Clinical Research Support Center, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Morikawa Y; Clinical Research Support Center, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Matsushima T; Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Sakakibara H; Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Kobayashi T; Department of Data Science, Clinical Research Center, National Center for Child Health and Development, Tokyo, Japan., Nakamura T; Department of Pediatrics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan., Takahashi T; Department of Pediatrics, Saiseikai Utsunomiya Hospital, Tochigi, Japan., Nakazawa M; Department of Pediatrics, National Hospital Organization Saitama National Hospital, Saitama, Japan., Shibata A; Department of Pediatrics, Japanese Red Cross Ashikaga Hospital, Tochigi, Japan., Yamagishi H; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Publikováno v: European journal of pediatrics [Eur J Pediatr] 2024 Oct; Vol. 183 (10), pp. 4265-4274. Date of Electronic Publication: 2024 Jul 25.

[Herpes simplex encephalitis complicated with cerebral salt wasting syndrome: a case study].

Autor: Suzuki F; Department of Neurology, JA Toride Medical Center., Takahashi S; Department of Neurology, JA Toride Medical Center., Oniki A; Department of Neurology, JA Toride Medical Center., Ishihara S; Department of Neurology, JA Toride Medical Center., Yamagishi H; Department of Endocrinology, JA Toride Medical Center., Tomimitsu H; Department of Neurology, JA Toride Medical Center.

Publikováno v: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2024 Aug 27; Vol. 64 (8), pp. 579-582. Date of Electronic Publication: 2024 Jul 27.