KEIO JOURNAL OF MEDICINE最新文献

Diabetic Ketoacidosis as the Initial Presenting Symptom of Pancreatic Cancer: A Comprehensive Review. 糖尿病酮症酸中毒作为胰腺癌的首发症状：综述。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2025-05-01 DOI: 10.2302/kjm.2024-0015-OA

Khaled Saad, Mustafa Mahmoud, Mahmoud M Younes, Alaa Reda, Ramez M Odat, Hassaan Mady, Mayar S Abdelal, Saleh Helmy, Mohamed M Ghonaim, Abdelrahman A Ebaid, Sara Y Alsaidi, Rady Elmonier, Amira Elhoufey, Hamad Ghaleb Dailah, Doaa Ali Gamal, Hoda Atef Abdelsattaribrahim, Anas Elgenidy

{"title":"Diabetic Ketoacidosis as the Initial Presenting Symptom of Pancreatic Cancer: A Comprehensive Review.","authors":"Khaled Saad, Mustafa Mahmoud, Mahmoud M Younes, Alaa Reda, Ramez M Odat, Hassaan Mady, Mayar S Abdelal, Saleh Helmy, Mohamed M Ghonaim, Abdelrahman A Ebaid, Sara Y Alsaidi, Rady Elmonier, Amira Elhoufey, Hamad Ghaleb Dailah, Doaa Ali Gamal, Hoda Atef Abdelsattaribrahim, Anas Elgenidy","doi":"10.2302/kjm.2024-0015-OA","DOIUrl":"https://doi.org/10.2302/kjm.2024-0015-OA","url":null,"abstract":"Recent studies have indicated that diabetic ketoacidosis (DKA) can be the primary presenting symptom of pancreatic cancer. This comprehensive review assesses the existing research on the incidence of DKA as an initial symptom of pancreatic cancer, including its clinical characteristics, diagnostic challenges, and implications for treatment and prognosis. A comprehensive search was conducted across four electronic databases (PubMed, Scopus, Web of Science, and Cochrane), complemented by a manual search. The search criteria focused on original case reports of pancreatic cancer patients who presented with DKA. Among the 360 studies reviewed, 9 met the eligibility criteria. Among the cases, pancreatic adenocarcinoma was the most common type, followed by somatostatinoma and cystadenocarcinoma. Diagnostic modalities included computed tomography, ultrasound, biopsy, and endoscopic ultrasound. Elevated tumor markers such as CA19-9 were reported in several cases. Most patients presented with gastrointestinal and neurological symptoms, with high levels of glucose and ketone bodies. This review highlights that DKA can serve as a rare but significant initial presentation of pancreatic cancer. Identifying this association is critical for facilitating early diagnosis, which may improve the otherwise poor prognosis of pancreatic cancer. Our findings suggest that clinicians should maintain a high index of suspicion for pancreatic malignancy in patients presenting with unexplained DKA, particularly those without traditional risk factors or precipitating events. Early imaging and multidisciplinary evaluation are essential in such cases.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049924","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":"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.","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":"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.","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

Poorly Differentiated Carcinoma with only Clear Glandular Differentiation Arising from the Bladder Trigone: A Case of Adenocarcinoma or Urothelial Carcinoma? 膀胱三角区低分化癌伴腺分化：是腺癌还是尿路上皮癌？

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

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

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

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

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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. 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

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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