KEIO JOURNAL OF MEDICINE最新文献

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Community Pharmacists' Perceptions and Needs Regarding Oral Healthcare Advice in Japan. 日本社区药剂师对口腔保健建议的看法和需求。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-05-27 DOI: 10.2302/kjm.2024-0022-OA
Hiroki Iwata, Rintaro Yoshida, Naoko Hayashi, Noriko Kobayashi, Kazuko Fujimoto, Katsunori Yamaura
{"title":"Community Pharmacists' Perceptions and Needs Regarding Oral Healthcare Advice in Japan.","authors":"Hiroki Iwata, Rintaro Yoshida, Naoko Hayashi, Noriko Kobayashi, Kazuko Fujimoto, Katsunori Yamaura","doi":"10.2302/kjm.2024-0022-OA","DOIUrl":"https://doi.org/10.2302/kjm.2024-0022-OA","url":null,"abstract":"<p><p>It is desirable for community pharmacists to be involved in promoting and maintaining the oral health of local residents. In this study, we conducted a questionnaire survey of Japanese community pharmacists to understand the actual conditions and the attitudes of these pharmacists regarding oral healthcare advice. A web-based anonymous self-administered questionnaire survey was completed by community pharmacists from March 26 to 29, 2021. We received responses from 324 pharmacists. A majority of respondents (66.0%) regarded dealing with \"daily oral health issues and oral care\" as a role of community pharmacists. Respondents also reported being consulted by patients or customers about mouth ulcers (70.1%) and xerostomia (54.6%). However, the frequency of consumer inquiries about these oral conditions was less than once per week. Just over half of the respondents (52.2%) said they were confident about dealing with mouth ulcers, whereas less than 40% were confident about handling other oral problems. The most common anxiety was a \"lack of knowledge about appropriate responses to oral symptoms\" (60.2%). The respondents desired education and training (75.6%) to better promote oral health-related activities. Japanese community pharmacists believe that they have a role to play in oral health issues and oral care, but their level of confidence in their ability to respond to oral health issues is low. Pharmacists are concerned about their lack of knowledge about oral healthcare and they desire more opportunities for education and training so that they can perform pharmacy-based maintenance and promotion of oral healthcare for local residents.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175207","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
Prognosis Prediction by 18F-fluorodeoxyglucose Positron Emission Tomography Parameters in Patients Undergoing Chemoradiation Therapy for Esophageal Cancer. 18f -氟脱氧葡萄糖正电子发射断层扫描参数对食管癌放化疗患者预后的预测
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-05-20 DOI: 10.2302/kjm.2023-0018-OA
Yusuke Motomura, Junichi Fukada, Tadaki Nakahara, Hirofumi Toyama, Takayuki Abe, Masahiro Jinzaki, Naoyuki Shigematsu
{"title":"Prognosis Prediction by <sup>18</sup>F-fluorodeoxyglucose Positron Emission Tomography Parameters in Patients Undergoing Chemoradiation Therapy for Esophageal Cancer.","authors":"Yusuke Motomura, Junichi Fukada, Tadaki Nakahara, Hirofumi Toyama, Takayuki Abe, Masahiro Jinzaki, Naoyuki Shigematsu","doi":"10.2302/kjm.2023-0018-OA","DOIUrl":"https://doi.org/10.2302/kjm.2023-0018-OA","url":null,"abstract":"<p><p>The aim of this study was to identify <sup>18</sup>F-fluorodeoxyglucose positron emission tomography/computed tomography (<sup>18</sup>F-FDG-PET/CT) parameters that could predict the prognosis of patients with esophageal cancer before and after undergoing chemoradiation therapy. We retrospectively reconstructed images under the same conditions for patients who underwent pre- and post-treatment <sup>18</sup>F-FDG-PET for chemoradiation therapy for esophageal cancer. Correlations between 2-year survival rates and pre-treatment values, differences between pre- and post-treatment quotients, and their ratios were examined for various standardized uptake values (SUV), metabolic tumor volumes (MTV), and each SUVmean (Mean SUV)*MTV (Vol.mean). We enrolled 29 patients who underwent pre-and post-treatment <sup>18</sup>F-FDG-PET. The median overall survival was 21.4 months (range, 3.6-100.9 months). Pre-treatment MTV had the most favorable hazard ratio (HR) for survival. However, the MTV product (Vol.meanQ), SUV corrected for basal metabolic rate using Mifflin-St Jeor estimation (BMR.ms), Vol.mean (SUVmeanQ) using the qPET method, SUVmean, and HR using Vol.meanQ corrected for body weight were nearly equivalent. No significant results were obtained for the pre- and post-treatment quotients. The pre- and post-treatment Vol.meanQ is a useful prognostic parameter that considers the effect of age-related loss of lean body mass. The use of parameters, including metabolism, will facilitate more appropriate use of <sup>18</sup>F-FDG-PET before and after chemoradiation therapy.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121096","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
Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible? 胰腺癌在遗传性乳腺癌和卵巢癌综合征:早期发现是可能的吗?
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-04-19 DOI: 10.2302/kjm.2024-0018-OA
Kodai Abe, Minoru Kitago, Yusuke Kobayashi, Kenta Masuda, Tomoko Seki, Mamiko Yamada, Yumiko Goto, Ikumi Ono, Kumiko Misu, Kohei Nakamura, Yuko Kitagawa
{"title":"Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible?","authors":"Kodai Abe, Minoru Kitago, Yusuke Kobayashi, Kenta Masuda, Tomoko Seki, Mamiko Yamada, Yumiko Goto, Ikumi Ono, Kumiko Misu, Kohei Nakamura, Yuko Kitagawa","doi":"10.2302/kjm.2024-0018-OA","DOIUrl":"https://doi.org/10.2302/kjm.2024-0018-OA","url":null,"abstract":"<p><p>A program of recruiting families with hereditary pancreatic cancer and hereditary breast and ovarian cancer (HBOC) syndrome as high-risk individuals for pancreatic cancer surveillance using magnetic resonance cholangiopancreatography (MRCP) and endoscopic ultrasound (EUS) has proven effective, resulting in the improvement of early detection rates and life expectancy. Given this, recent guidelines recommend pancreatic surveillance for patients with familial pancreatic cancer and pathological variants of ten genes, including BRCA1/2. In April 2021, our hospital established the HBOC Center, which is operated by nine departments, including obstetrics and gynecology, breast surgery, pancreatology, urology, medical genetics, dermatology, psychiatry and neurology, and oncology. Currently, MRCP or EUS is performed once or twice a year in 63 cases with pathogenic variants in 54 families. Although 4 cases (6.3%) revealed pancreatic microcysts or branched intraductal papillary mucinous neoplasms, no sign of pancreatic cancer was detected. Since January 2021, the germline BRCA1/2 test for companion diagnosis of pancreatic cancer has been covered by insurance, improving the accessibility of genetic testing among patients with pancreatic cancer. However, the BRCA1/2 positivity rate remains low at 1.3%, and its indication for use is very limited. The implementation of genetic testing, including BRCA1/2 analysis, is necessary for the prevention and early detection of pancreatic cancer in high-risk families.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049931","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
Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery. 探索HBOC患者的乳腺癌风险管理:图像监测与降低风险的手术。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-04-02 DOI: 10.2302/kjm.2024-0021-RE
Tomoko Seki, Yusuke Kobayashi, Kenta Masuda, Kohei Nakamura, Mamiko Yamada, Yumiko Goto, Kumiko Misu, Ikumi Ono, Aiko Nagayama, Tetsu Hayashida, Yuko Kitagawa
{"title":"Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery.","authors":"Tomoko Seki, Yusuke Kobayashi, Kenta Masuda, Kohei Nakamura, Mamiko Yamada, Yumiko Goto, Kumiko Misu, Ikumi Ono, Aiko Nagayama, Tetsu Hayashida, Yuko Kitagawa","doi":"10.2302/kjm.2024-0021-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0021-RE","url":null,"abstract":"<p><p>In Japan, the rising incidence of hereditary breast and ovarian cancer syndrome (HBOC) follows partial insurance coverage introduced in 2020. Compared with the general population (~11% lifetime risk), individuals with HBOC face a significantly higher lifetime risk of breast cancer (48%-76%), often presenting at younger ages. BRCA1 mutations are linked to triple-negative breast cancer, whereas BRCA2 mutations typically result in luminal-type disease. Key risk management strategies include surveillance and prophylactic surgery. Annual magnetic resonance imaging and mammography are recommended at younger ages than in the general population, despite concerns regarding contrast agents, radiation exposure, and examination-related burdens. Although risk-reducing mastectomy lowers breast cancer risk by over 90%, it remains underutilized because of cosmetic and psychological considerations. Nipple-sparing or skin-sparing mastectomy combined with immediate or delayed reconstruction offers a balance between risk reduction and postoperative outcomes, although safety and procedure details still warrant careful evaluation. Managing the high breast cancer risk associated with HBOC requires ongoing efforts to refine current strategies while minimizing patient burden.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774492","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
Molecular Basis of Hereditary Hair Diseases. 遗传性头发疾病的分子基础。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-07-04 DOI: 10.2302/kjm.2023-0007-IR
Yutaka Shimomura
{"title":"Molecular Basis of Hereditary Hair Diseases.","authors":"Yutaka Shimomura","doi":"10.2302/kjm.2023-0007-IR","DOIUrl":"10.2302/kjm.2023-0007-IR","url":null,"abstract":"<p><p>The hair follicle is an appendage of the skin that undergoes hair cycles throughout life. Recently, numerous genes expressed in the hair follicles have been identified, and variants in some of these genes are now known to underlie hereditary hair diseases in humans. Hereditary hair diseases are classified into non-syndromic and syndromic forms. In the Japanese population, the non-syndromic form of autosomal recessive woolly hair, which is caused by founder pathogenic variants in the lipase H (LIPH) gene, is the most prevalent hereditary hair disease. In addition, other types of hereditary hair diseases are known in Japan, such as Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho-rhino-phalangeal syndrome. To ensure correct diagnoses and appropriate patient care, dermatologists must understand the characteristics of each hair disorder. Elucidation of the molecular basis of hereditary hair diseases can directly tell us which genes are crucial for morphogenesis and development of hair follicles in humans. Therefore, continuation of \"wet laboratory\" research for these diseases remains important. To date, several syndromic forms of hereditary hair diseases have been approved as designated intractable diseases in Japan. As part of our efforts in the Project for Research on Intractable Diseases through the Ministry of Health, Labour, and Welfare of Japan, we anticipate that more hereditary hair diseases be recognized as designated intractable diseases in the future, which will be to the benefit of the affected individuals.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"27-36"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9758380","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 Project: Advancing Research and Drug Development through Collaboration. 先天性红斑狼疮项目:通过合作推进研究和药物开发。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-12-08 DOI: 10.2302/kjm.2023-0015-IR
Janice N Schwartz, Holly A Evans, Edel A O'Toole, C David Hansen
{"title":"Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.","authors":"Janice N Schwartz, Holly A Evans, Edel A O'Toole, C David Hansen","doi":"10.2302/kjm.2023-0015-IR","DOIUrl":"10.2302/kjm.2023-0015-IR","url":null,"abstract":"<p><p>Pachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This condition is a painful and debilitating skin disorder caused by a mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16,or KRT17. Through two primary programs, namely the International Pachyonychia Congenita Consortium (IPCC) and the International Pachyonychia Congenita Research Registry (IPCRR), PC Project provides comprehensive patient support and diagnostics while uniting patients, researchers, physicians, and industry partners on a global level to advance research and drug development for meaningful treatments and, ultimately, a cure for PC.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"61-66"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812011","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
Neurofibromatosis 1 (von Recklinghausen Disease). 神经纤维瘤病1(冯·Recklinghausen病)。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-08-26 DOI: 10.2302/kjm.2023-0013-IR
Yuichi Yoshida
{"title":"Neurofibromatosis 1 (von Recklinghausen Disease).","authors":"Yuichi Yoshida","doi":"10.2302/kjm.2023-0013-IR","DOIUrl":"10.2302/kjm.2023-0013-IR","url":null,"abstract":"<p><p>Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is one of the most common neurocutaneous genetic disorders. Loss of function of the NF1 gene results in overactivation of the RAS/MAPK pathway, leading to neurocutaneous manifestations and osseous abnormalities. Because of medical progress, molecular testing for NF1 after genetic counseling is now available in Japan. In addition, revised diagnostic criteria for NF1 were proposed by NF1 experts of an international panel in 2021. Because the overall degree of severity and manifestations in each patient are not predictable, age-specific annual monitoring and patient education by a multidisciplinary team are important for the management of NF1. Although treatment of plexiform neurofibroma has been challenging, selumetinib (an oral selective MEK1/2 inhibitor), which targets a pathway downstream of RAS, was approved in 2022 for use in children with inoperable, symptomatic plexiform neurofibromas in Japan. This article summarizes recent progress in diagnosis, clinical characteristics, and treatment of various manifestations of NF1 and proposes the future direction required to resolve unmet needs in patients with NF1 in Japan.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"37-41"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10084430","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
Gorlin Syndrome and Cowden Syndrome. Gorlin综合征和Cowden综合征。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-08-10 DOI: 10.2302/kjm.2023-0010-IR
Hiroyuki Goto, Chiharu Tateishi, Daisuke Tsuruta
{"title":"Gorlin Syndrome and Cowden Syndrome.","authors":"Hiroyuki Goto, Chiharu Tateishi, Daisuke Tsuruta","doi":"10.2302/kjm.2023-0010-IR","DOIUrl":"10.2302/kjm.2023-0010-IR","url":null,"abstract":"<p><p>Gorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1) in Gorlin syndrome and mutation in the phosphatase and tensin homolog deleted from chromosome 10 (PTEN) gene in Cowden syndrome. Making a diagnosis of these diseases in the early years of life is important because detection of malignancies at an early stage is linked to improved prognosis. Both Gorlin syndrome and Cowden syndrome have cutaneous findings in the early phase in childhood, and the role of dermatologists is therefore important. These diseases are generally diagnosed by clinical criteria, but some patients who do not meet the criteria need genetic examinations including a genetic diagnostic panel and next-generation sequencing. The most important treatment and management are detection and resection of malignancies in the early stage, and targeted therapies have recently been used for treatment of tumors and other symptoms in these diseases. Although evidence of the effectiveness of targeted therapies has been limited, they are promising therapeutic options and further clinical trials are needed in the future.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"21-26"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9967161","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
Special Issue for Genetic Skin Diseases: Activities and Achievements within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan. 遗传性皮肤病特刊:日本厚生劳动省难治性疾病研究项目的活动和成果。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2025-02-01 DOI: 10.2302/kjm.74-1_Editorial
Takashi Hashimoto
{"title":"Special Issue for Genetic Skin Diseases: Activities and Achievements within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.","authors":"Takashi Hashimoto","doi":"10.2302/kjm.74-1_Editorial","DOIUrl":"10.2302/kjm.74-1_Editorial","url":null,"abstract":"","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"1-3"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081353","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
Activities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan. 日本厚生劳动省“疑难杂症研究计划”中“与基因突变相关的罕见疑难杂症皮肤病综合研究课题组”的活动。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2024-12-21 DOI: 10.2302/kjm.2024-0016-IR
Takashi Hashimoto, Shin-Ichi Moriwaki, Hiroaki Iwata, Minao Furumura, Koremasa Hayama, Nobuo Kanazawa, Naotomo Kambe, Toshifumi Nomura, Kozo Yoneda, Tamihiro Kawakami, Hajime Nakano, Eijiro Akasaka, Chiharu Tateishi, Keiko Ota, Ayumi Shintani, Daisuke Tsuruta
{"title":"Activities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.","authors":"Takashi Hashimoto, Shin-Ichi Moriwaki, Hiroaki Iwata, Minao Furumura, Koremasa Hayama, Nobuo Kanazawa, Naotomo Kambe, Toshifumi Nomura, Kozo Yoneda, Tamihiro Kawakami, Hajime Nakano, Eijiro Akasaka, Chiharu Tateishi, Keiko Ota, Ayumi Shintani, Daisuke Tsuruta","doi":"10.2302/kjm.2024-0016-IR","DOIUrl":"10.2302/kjm.2024-0016-IR","url":null,"abstract":"<p><p>The Hashimoto Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin is a contributor to the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare (MHLW) of Japan. Our research group performs clinical research on 23 rare intractable genetic skin diseases that are classified into eight disease groups. Among the 23 diseases, 17 are mainly studied by our research group, and 6 diseases are studied in collaboration with other research groups. Cockayne syndrome and familial chronic and benign pemphigus (also known as Hailey-Hailey disease) are the designated intractable diseases that are mainly studied by our research group. This review summarizes the activities of our research group for these 23 intractable hereditary skin diseases, including the MHLW tasks for designated intractable diseases, epidemiological studies using nationwide surveys, preparation of patient registries, creation of repositories, development and publication of clinical practice guidelines, clinical trials for novel treatments in collaboration with the Japanese Agency for Medical Research and Development, help with genetic diagnosis, applications for the listing of new designated intractable diseases, communication of information to academic societies, medical professionals and patients, spreading awareness of our activities to the public, supporting patient societies, and presentation and publication of achievements. These studies are performed in collaboration with the relevant academic societies, mainly the Japanese Dermatological Association.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"4-10"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878116","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
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