KEIO JOURNAL OF MEDICINE最新文献

Poorly Differentiated Carcinoma with only Clear Glandular Differentiation Arising from the Bladder Trigone: A Case of Adenocarcinoma or Urothelial Carcinoma?

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-26 DOI: 10.2302/kjm.2024-0017-CR

Kaoru Furihata, Atsushi Kurabayashi, Waka Iwashita, Noriko Wada, Makoto Toi, Jo Yoshimichi, Hideo Fukuhara, Keiji Inoue, Mutsuo Furihata

{"title":"Poorly Differentiated Carcinoma with only Clear Glandular Differentiation Arising from the Bladder Trigone: A Case of Adenocarcinoma or Urothelial Carcinoma?","authors":"Kaoru Furihata, Atsushi Kurabayashi, Waka Iwashita, Noriko Wada, Makoto Toi, Jo Yoshimichi, Hideo Fukuhara, Keiji Inoue, Mutsuo Furihata","doi":"10.2302/kjm.2024-0017-CR","DOIUrl":"https://doi.org/10.2302/kjm.2024-0017-CR","url":null,"abstract":"Invasive urothelial carcinoma (UC) has diverse morphological presentations. Here, we describe the case of a Japanese woman aged in her early 60s with UC with unclear differentiation. The patient presented with distinct glandular differentiation and concurrent cystitis glandularis (CG) and intestinal metaplasia (IM) without a conventional UC component. Up to 2% of patients with bladder cancer develop adenocarcinoma. However, differentiating UC with glandular differentiation (UCg) from adenocarcinoma can be challenging. Although CG and IM are associated with adenocarcinoma, their presence does not necessarily imply that the comorbid cancer is adenocarcinoma. In this case, cytokeratin 7 (CK7) and CK5/6 positivity was assessed to establish the diagnosis of poorly differentiated UCg. A poorly differentiated pure UCg without conventional UC components has not yet been reported, which makes diagnosis extremely difficult. Moreover, because of the highly differentiated glandular structures within poorly differentiated UCs, the mechanism of tumorigenesis remains unclear. Further studies involving a larger case series should be conducted to elucidate the association between CG and IM and investigate the genetic background of these tumors, all of which would improve the accuracy of differentiation between poorly differentiated UC and adenocarcinoma.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732219","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

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":"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.","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

Neurofibromatosis 1 (von Recklinghausen Disease). 神经纤维瘤病1 (von Recklinghausen Disease)。

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

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":"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.","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.

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

引用次数: 0

Tuberous Sclerosis Complex. 结节性硬化症

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

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":"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.","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

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