KEIO JOURNAL OF MEDICINE最新文献_第2页

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.

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

Identification of Issues Related to Enteral Nutrients Using a Database of Near-miss Events from Community Pharmacies.

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-13 DOI: 10.2302/kjm.2024-0014-OA

Shingo Kondo, Mari Maese, Hiroki Iwata, Noriko Kobayashi, Katsunori Yamaura

{"title":"Identification of Issues Related to Enteral Nutrients Using a Database of Near-miss Events from Community Pharmacies.","authors":"Shingo Kondo, Mari Maese, Hiroki Iwata, Noriko Kobayashi, Katsunori Yamaura","doi":"10.2302/kjm.2024-0014-OA","DOIUrl":"https://doi.org/10.2302/kjm.2024-0014-OA","url":null,"abstract":"Undernutrition is a common risk after surgery or during periods when oral dietary intake is challenging. Enteral nutrients, frequently utilized in nutritional management, are drugs associated with multiple contraindications involving pathology and allergy, and they require careful attention in dispensing. However, the occurrence of nutrition-related incidents in community pharmacies remains unknown. This study aimed to identify issues regarding the safety of pharmacotherapy in patients requiring enteral nutrition using the database of Project to Collect and Analyze Pharmaceutical Near-Miss Event Information. We highlighted the critical information that pharmacists should focus on to prevent accidents and elucidated the details and prescription drugs of cases that matched the search for \"Nutrition (all included)\" in Japanese. There were 475 cases reported between January 2009 and September 2023. Of these, 347 cases (73%) were classified as \"inquiry about prescription and provision of information to prescribing physician\" (Category II) and 115 cases (24%) were classified as \"drug dispensing\" (Category I). In both cases, the top five drugs were enteral nutrients. Among the life-threatening Category II cases, 9 cases were for pathological contraindications including severe liver or renal dysfunction, 6 cases were for adverse reactions including diarrhea, and 5 cases were for allergies or patient constitutions. Notably, the incidence of adverse reactions was higher than in data for the latest annual reports. Therefore, pharmacists should be mindful while dealing with prescriptions involving possible contraindications in patients requiring enteral nutrition. Pharmacists should contribute to the provision of safe pharmacotherapy by remaining vigilant against dispensing errors.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617555","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).

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.

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

Intractable Pruritus as Initial Presentation of Cytomegalovirus -Tuberculosis Coinfections.

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-07 DOI: 10.2302/kjm.2024-0012-CR

Shivnarayan Sahu, Priyavadhana Balasubramanian, Prasan Kumar Panda, Prativa Sethi

{"title":"Intractable Pruritus as Initial Presentation of Cytomegalovirus -Tuberculosis Coinfections.","authors":"Shivnarayan Sahu, Priyavadhana Balasubramanian, Prasan Kumar Panda, Prativa Sethi","doi":"10.2302/kjm.2024-0012-CR","DOIUrl":"https://doi.org/10.2302/kjm.2024-0012-CR","url":null,"abstract":"Coinfection of cytomegalovirus (CMV) and Mycobacterium tuberculosis presenting with acquired perforating dermatosis is a rare occurrence and remains poorly described in the literature. A man in his 40s, a farmer and chronic smoker, who was partially treated for tuberculosis, presented with a history of fever, weight loss, cough, generalized lymphadenopathy, severe pruritus, and skin lesions. Imaging findings suggested tuberculosis, which was confirmed by sputum examination. Histopathological examinations confirmed CMV lymphadenitis associated with acquired perforating dermatosis. Treatment included antitubercular therapy and a multidrug regimen for severe pruritus, leading to symptomatic improvement. Despite initial progress, the patient was lost to follow-up and later succumbed at home, emphasizing the importance of timely intervention for coinfected tuberculosis and cytomegalovirus diseases. This case highlights the rarity of cytomegalovirus and tuberculosis coinfection, the diagnostic complexities, the challenges associated with the treatment of intractable pruritus, and the necessity of ensuring proper follow-up.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383598","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

Unilateral Frosted Branch Angiitis Following COVID-19 Disease: Case Report and Literature Review.

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-05 DOI: 10.2302/kjm.2024-0010-CR

Asma Alzuabi, Abdulrahman Albloushi

{"title":"Unilateral Frosted Branch Angiitis Following COVID-19 Disease: Case Report and Literature Review.","authors":"Asma Alzuabi, Abdulrahman Albloushi","doi":"10.2302/kjm.2024-0010-CR","DOIUrl":"https://doi.org/10.2302/kjm.2024-0010-CR","url":null,"abstract":"Frosted branch angiitis (FBA) is a rare and aggressive form of retinal vasculitis that can cause vision loss. This condition is typically idiopathic and can be associated with various infections or malignancies. Recently, FBA has been linked to COVID-19 in some reports. This report describes a rare association between COVID-19 and FBA and presents characteristic findings from multimodal imaging. We describe the case of a 30-year-old man, otherwise healthy, who experienced acute vision loss in his left eye 1 week after testing positive for COVID-19. His initial visual acuity was 20/20 in the right eye and counting fingers at 2 feet in the left eye. A fundus examination disclosed extensive vascular sheathing affecting the arteries and veins, accompanied by widespread intraretinal, preretinal, and subretinal hemorrhages indicative of FBA. Fundus fluorescein angiography revealed notably delayed filling in both arterial and venous systems. Optical coherence tomography of the left eye displayed inner retinal layer hyperreflectivity, suggesting ischemia coupled with substantial subretinal fluid. The systemic evaluation of the patient was unremarkable. The treatment included systemic corticosteroids, azathioprine, intravitreal bevacizumab, and panretinal photocoagulation. After 6 months of treatment, the left eye examination showed resolution of vascular sheathing, retinal hemorrhages, and subretinal fluid, although the final visual acuity in the left eye remained unchanged. In conclusion, FBA may manifest in otherwise healthy and immunocompetent individuals following SARS-CoV-2 infection.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257015","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

Acute Kidney Injury as the First Manifestation of Sarcoidosis.

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-01-29 DOI: 10.2302/kjm.2023-0020-CR

Leonid Dvoretsky, Nina Sidoruk, Sergey Krivushkin, Andrey Stepanchenko, Svetlana Rachina, Ekaterina Stolyarevich, Heshan Radeesha De Silva

{"title":"Acute Kidney Injury as the First Manifestation of Sarcoidosis.","authors":"Leonid Dvoretsky, Nina Sidoruk, Sergey Krivushkin, Andrey Stepanchenko, Svetlana Rachina, Ekaterina Stolyarevich, Heshan Radeesha De Silva","doi":"10.2302/kjm.2023-0020-CR","DOIUrl":"https://doi.org/10.2302/kjm.2023-0020-CR","url":null,"abstract":"We describe a case of sarcoidosis in a previously healthy 39-year-old man with the development of an acute kidney injury, requiring renal replacement therapy, as the first manifestation of the disease. The course of the disease was complicated by a сatheter-associated bloodstream infection. According to the histological examination of kidney biopsy samples, granulomatous interstitial nephritis was diagnosed. Extensive examination of the patient revealed persistent hypercalcemia, elevated transaminase levels, intrathoracic lymphadenopathy, and infiltrates in the lungs. Other diseases, such as anti-neutrophil cytoplasmic antibody-associated vasculitis, tuberculosis, autoimmune liver diseases, and systemic lupus erythematosus, were ruled out. The patient was treated with pulse therapy of methylprednisolone, which then switched to oral glucocorticoids (prednisolone 60 mg/day followed by a gradual decrease in the dose). The 9-month follow-up revealed a regression of lung lesions and improvement of the impaired renal function. The prednisolone dose was reduced to 7.5 mg/day, and renal replacement therapy was discontinued.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068210","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

Pioneering the Future of Cancer Immunotherapy: A New Era of Synthetic Immunology through Computational Modeling.

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