KEIO JOURNAL OF MEDICINE最新文献_第3页

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-08-02 DOI: 10.2302/kjm.2023-0011-IR

Mari Wataya-Kaneda

{"title":"Tuberous Sclerosis Complex.","authors":"Mari Wataya-Kaneda","doi":"10.2302/kjm.2023-0011-IR","DOIUrl":"10.2302/kjm.2023-0011-IR","url":null,"abstract":"Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in the causative genes TSC1 or TSC2. The elucidation of the pathogenesis of this disease and advances in diagnostic technologies have led to dramatic changes in the diagnosis and treatment of TSC. Diagnostic criteria have been created at a global level, and mTORC1 inhibitors have emerged as therapeutic agents for this disease. Previously, the treatment strategy was limited to symptomatic treatments such as surgery. Inhibitors of mTORC1 are effective against all symptoms of TSC, but they also have systemic side effects. Therefore, the need for a cross-disciplinary, collaborative medical care system has increased, resulting in the establishment of a practice structure known as the \"TSC Board.\" Furthermore, to reduce the side effects of systemic administration of mTORC1 inhibitors, a topical formulation of mTORC1 inhibitor was developed in Japan for the treatment of skin lesions caused by TSC. This report summarizes the pathogenesis and current status of TSC and the contribution of the Neurocutaneous Syndrome Policy Research Group to the policies of the Ministry of Health, Labor, and Welfare with respect to this rare, intractable disease.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"42-51"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9923473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pachyonychia Congenita: Clinical Features and Future Treatments. 先天性厚甲沟炎：临床特点和未来治疗。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-09-28 DOI: 10.2302/kjm.2023-0012-IR

Rebecca L McCarthy, Marianne de Brito, Edel O'Toole

{"title":"Pachyonychia Congenita: Clinical Features and Future Treatments.","authors":"Rebecca L McCarthy, Marianne de Brito, Edel O'Toole","doi":"10.2302/kjm.2023-0012-IR","DOIUrl":"10.2302/kjm.2023-0012-IR","url":null,"abstract":"Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and additional features, which has allowed classification by genotype. Additional features include pilosebaceous cysts, follicular hyperkeratosis, natal teeth, oral leukokeratosis, hidradenitis suppurativa, itching, and neurovascular structures. Although classed as rare, the prevalence of PC is likely to be underestimated. There is no cure or specific treatment for PC at present. Current treatments are limited to conservative measures to reduce plantar friction and trauma, mechanical debridement, topical treatments, and treatments for associated features or complications, most commonly infection. However, through active research in collaboration with PC Project, a patient-advocacy group, and the International PC Research Registry, a global registry of PC patients, there are now many new potential therapeutic options on the horizon. This review summarizes the clinical features associated with PC and highlights the current and future treatment of its manifestations.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"52-60"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan. 日本罕见难治性遗传性皮肤病临床研究进展

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-06-29 DOI: 10.2302/kjm.2023-0008-IR

Masashi Akiyama, Takuya Takeichi, Shigaku Ikeda, Akira Ishiko, Michiko Kurosawa, Hiroyuki Murota, Yutaka Shimomura, Tamio Suzuki, Katsuto Tamai, Akio Tanaka, Tadashi Terui, Masayuki Amagai

{"title":"Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan.","authors":"Masashi Akiyama, Takuya Takeichi, Shigaku Ikeda, Akira Ishiko, Michiko Kurosawa, Hiroyuki Murota, Yutaka Shimomura, Tamio Suzuki, Katsuto Tamai, Akio Tanaka, Tadashi Terui, Masayuki Amagai","doi":"10.2302/kjm.2023-0008-IR","DOIUrl":"10.2302/kjm.2023-0008-IR","url":null,"abstract":"Our Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activities for raising public awareness of these six intractable hereditary skin diseases and summarizes our recent achievements in clarifying the situation of medical treatments for these diseases in Japan. We note our current progress in elucidating the pathogeneses of these diseases and in developing new treatment methods, and we discuss our progress in establishing clinical practice guidelines. A nationwide survey on epidermolysis bullosa and a clinical survey on congenital ichthyoses are progressing. The Angioedema Activity Score and the Angioedema Quality-of-Life Questionnaire, the latter of which is a quality-of-life evaluation tool, have been established for hereditary angioedema. Registries of patients with oculocutaneous albinism and pseudoxanthoma elasticum have been created, and the registry for the latter has achieved its target of 170 cases. For GPP, the results of our survey on clinical practice were published in 2021. Information regarding all six of these hereditary skin diseases has been disseminated to academic societies, medical professionals, patients, and the general public.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"11-20"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10051774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy. 输卵管卵巢切除术的现状及未来发展方向。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-22 DOI: 10.2302/kjm.2024-0024-RE

Kenta Masuda, Yusuke Kobayashi, Tomoko Seki, Tomoko Yoshihama, Kohei Nakamura, Yumiko Goto, Mamiko Yamada, Aiko Nagayama, Sayaka Uchida, Ikumi Ono, Kumiko Misu, Megumi Yokota, Wataru Yamagami

{"title":"Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy.","authors":"Kenta Masuda, Yusuke Kobayashi, Tomoko Seki, Tomoko Yoshihama, Kohei Nakamura, Yumiko Goto, Mamiko Yamada, Aiko Nagayama, Sayaka Uchida, Ikumi Ono, Kumiko Misu, Megumi Yokota, Wataru Yamagami","doi":"10.2302/kjm.2024-0024-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0024-RE","url":null,"abstract":"High-grade serous carcinoma (HGSC), the most aggressive subtype of epithelial ovarian cancer, is strongly associated with hereditary breast and ovarian cancer (HBOC) syndrome and is primarily linked to germline BRCA1/2 pathogenic variants (PVs). The cumulative risks of ovarian cancer by the age of 70 years are 40% and 18% for carriers of BRCA1 and BRCA2 PVs, respectively. Risk-reducing salpingo-oophorectomy (RRSO) is a recommended preventive strategy that reduces the risk of ovarian cancer by more than 80% and may improve overall survival. However, surgical menopause after RRSO poses several challenges, including infertility and hormonal deficiency. Although the use of hormone replacement therapy may alleviate symptoms, it requires careful consideration of breast cancer risk. Emerging strategies, such as prophylactic salpingectomy with delayed oophorectomy, are being investigated to balance cancer prevention and patient quality of life. Further research is required to refine personalized prevention and management approaches for HBOC-associated ovarian cancer.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC). 与遗传性乳腺癌和卵巢癌（HBOC）相关的潜在新肿瘤

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-12 DOI: 10.2302/kjm.2024-0023-RE

Kohei Nakamura, Kenta Masuda, Tomoko Seki, Minoru Kitago, Takeo Kosaka, Yumiko Goto, Mamiko Yamada, Kumiko Misu, Ikumi Ono, Yusuke Kobayashi, Wataru Yamagami

{"title":"Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC).","authors":"Kohei Nakamura, Kenta Masuda, Tomoko Seki, Minoru Kitago, Takeo Kosaka, Yumiko Goto, Mamiko Yamada, Kumiko Misu, Ikumi Ono, Yusuke Kobayashi, Wataru Yamagami","doi":"10.2302/kjm.2024-0023-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0023-RE","url":null,"abstract":"Hereditary breast and ovarian cancer syndrome (HBOC) is traditionally associated with mutations in the BRCA1 and BRCA2 genes, predominantly impacting breast, ovarian, pancreatic, and prostate cancers. However, recent research suggests that these mutations may also predispose carriers to a broader spectrum of malignancies, including biliary tract, cervical, colorectal, endometrial, esophageal, and gastric cancers. This review presents findings from extensive datasets, including a significant study from a nationwide Japanese biobank that examined cancer risks in 63,828 patients and 37,086 controls. Our review highlights notable associations, such as an increased risk of uterine and cervical cancers in BRCA1 mutation carriers and increased risk of esophageal and gastric cancers in BRCA2 mutation carriers. These emerging associations underscore the necessity of revisiting and potentially expanding current clinical guidelines to incorporate these additional risks. These findings advocate a comprehensive approach to genetic counseling and underscore the importance of tailored cancer surveillance strategies in populations carrying BRCA mutations. This expanded understanding could significantly influence preventive, diagnostic, and therapeutic strategies, promoting personalized approaches to manage and potentially prevent these malignancies in genetically susceptible populations.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mental Health Care among Cancer Patients with BRCA Gene Mutations: The Potential of Mindfulness-based Intervention. BRCA基因突变癌症患者的心理健康护理：正念干预的潜力。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-22 DOI: 10.2302/kjm.2024-0019-RE

Mari Takeuchi, Sunre Park

引用次数: 0

Pioneering the Future of Cancer Immunotherapy: A New Era of Synthetic Immunology through Computational Modeling. 开创癌症免疫治疗的未来：通过计算建模的合成免疫学的新时代。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-01-01 DOI: 10.2302/kjm.ABSTRACT_74-1

Taisuke Kondo

引用次数: 0

Robotic Lobectomy with a Single Robotic Stapler from One 12-mm Port: A Multi-institutional Study. 使用单机器人缝合器从一个 12 毫米孔口进行机器人肺叶切除术：一项多机构研究

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2024-12-25 Epub Date: 2024-07-26 DOI: 10.2302/kjm.2024-0003-OA

Yoshimasa Inoue, Koichi Fujiu, Tetsuya Endo, Rurika Hamanaka, Hiroto Tanaka, Hidefumi Takei, Makoto Oda

{"title":"Robotic Lobectomy with a Single Robotic Stapler from One 12-mm Port: A Multi-institutional Study.","authors":"Yoshimasa Inoue, Koichi Fujiu, Tetsuya Endo, Rurika Hamanaka, Hiroto Tanaka, Hidefumi Takei, Makoto Oda","doi":"10.2302/kjm.2024-0003-OA","DOIUrl":"10.2302/kjm.2024-0003-OA","url":null,"abstract":"Introduction of the robotic stapler has allowed robotic lobectomy to be performed from a surgical console in complete autonomy. The robotic stapler fits a 12-mm port, which is larger than the standard 8-mm port and increases the risk of postoperative pain. However, in many cases, to cover all possible angles of approach, two 12-mm ports are preferably used. However, limiting instrument inventory and simplifying surgical procedures are also desirable to reduce costs. In a multicenter study, we assessed the feasibility of robotic lobectomy with a single type of robotic stapler [SureForm45 Curved-Tip (SF45C); Intuitive Surgical Inc.] inserted through one 12-mm port placed at the anterior tip of the lower intercostal space. We also investigated the potential cost savings of using an additional 60-mm stapler for interlobar division. A total of 135 lobectomy cases were enrolled. In all cases, all stapling procedures were completed using the SF45C inserted from the designated 12-mm port. We found that it was potentially less expensive to use the SureForm60 stapler if more than six SF45C reloads were needed for interlobar division. However, in our series, only 1 case (0.7%) met this requirement. The use of a single type of stapler from one 12-mm port in a robotic lobectomy is technically feasible. This approach may be expected to allow for surgical simplification, minimize the risk of postoperative pain, and reduce inventory costs.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"33-38"},"PeriodicalIF":1.1,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Efficacy of Cognitive Stimulation Therapy for Cognition in Patients with Vascular Cognitive Impairment: A Pilot Randomized Controlled Trial. 认知刺激疗法对血管性认知障碍患者认知的疗效：随机对照试验》。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2024-12-25 Epub Date: 2024-08-02 DOI: 10.2302/kjm.2022-0030-OA

Naoki Mori, Yohei Otaka, Daisuke Ito, Ayaka Shimizu, Ayako Narita, Kaoru Honaga, Daisuke Matsuura, Kunitsugu Kondo, Meigen Liu, Tetsuya Tsuji

{"title":"Efficacy of Cognitive Stimulation Therapy for Cognition in Patients with Vascular Cognitive Impairment: A Pilot Randomized Controlled Trial.","authors":"Naoki Mori, Yohei Otaka, Daisuke Ito, Ayaka Shimizu, Ayako Narita, Kaoru Honaga, Daisuke Matsuura, Kunitsugu Kondo, Meigen Liu, Tetsuya Tsuji","doi":"10.2302/kjm.2022-0030-OA","DOIUrl":"10.2302/kjm.2022-0030-OA","url":null,"abstract":"The efficacy of cognitive stimulation therapy (CST) in patients with vascular cognitive impairment has not been explored, and no studies investigating CST in the convalescent rehabilitation phase have been reported. This study examined the effect of CST on the cognitive function of patients with vascular cognitive impairment. A randomized controlled, assessor-blinded, single-centered trial with two parallel groups was conducted in a convalescent rehabilitation hospital. Twenty participants were randomly allocated to CST (n=10) and control (n=10) groups. Participants in the CST group underwent two CST sessions a day, five times a week for 8 weeks, in addition to conventional rehabilitation. Participants in the control group underwent conventional rehabilitation only. The primary outcome was the Mini-Mental State Examination (MMSE) score, and the outcome between the groups was compared using a generalized linear mixed model (GLMM). The mean (standard deviation) scores of MMSE increased by 3.50 (3.08) points and 4.50 (1.61) points from baseline to the end of the study (week 8) in the CST and control groups, respectively. The GLMM showed a significant effect of TIME on MMSE (F=21.121, P<0.001), whereas no significant effect on MMSE was observed for GROUP (intervention vs. control, P=0.817) or the interaction term (TIME×GROUP, P=0.649). Although a significant improvement in cognitive function was observed in each group, no significant effect of CST was evident. This result indicates that the effect may have been masked by improvements caused by natural history or rehabilitation. Future studies with a sufficient sample size are required to confirm the findings.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"39-46"},"PeriodicalIF":1.1,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Warfarin Therapy and Percutaneous Left Atrial Appendage Closure for a Patient with Atrial Fibrillation and Antithrombin-III Deficiency. 心房颤动和抗凝血酶 III 缺乏症患者的华法林治疗和经皮左心房附壁封闭术。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2024-09-25 Epub Date: 2024-07-10 DOI: 10.2302/kjm.2023-0017-CR

Sho Shimohama, Masahiro Katsumata, Shumpei Azami, Satoshi Kitagawa, Hikaru Tsuruta, Taku Inohara, Jin Nakahara, Yoshikane Izawa

引用次数: 0