KEIO JOURNAL OF MEDICINE最新文献

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Pemphigus: An Autoimmune Disease Model for Understanding the Role of Autoreactive T Cells. 天疱疮:了解自身反应性T细胞作用的自身免疫性疾病模型。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-05-28 DOI: 10.2302/kjm.2025-0002-IR
Hayato Takahashi
{"title":"Pemphigus: An Autoimmune Disease Model for Understanding the Role of Autoreactive T Cells.","authors":"Hayato Takahashi","doi":"10.2302/kjm.2025-0002-IR","DOIUrl":"https://doi.org/10.2302/kjm.2025-0002-IR","url":null,"abstract":"<p><p>Finding cures is the ultimate goal of research on autoimmune diseases. Pemphigus is an autoantibody-mediated autoimmune skin disease in which specific autoantibodies target desmogleins 1 and 3 as autoantigens. The condition leads to painful blisters and erosions in the skin and oral mucosa, impacting patients' ability to eat and other daily activities, significantly affecting quality of life. The molecular mechanisms by which these pathogenic autoantibodies induce blisters have been extensively studied and understanding has advanced considerably. However, many critical questions remain, such as the exact cause of the disease, the mechanisms that normally prevent autoimmunity, and the pathogenic cells involved, other than autoantibodies. This article focuses on the role of autoreactive T cells in pemphigus and uses the pemphigus model to answer some of these questions. Research into pemphigus has enhanced our understanding of both the pathogenic and regulatory mechanisms involved, not only in pemphigus but also in other skin diseases caused by cellular autoimmunity. The growing body of scientific evidence on pemphigus has made it a model disease, paving the way for the development of novel therapeutic approaches, including antigen-specific immunotherapy for autoimmune diseases and chronic inflammatory disorders.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175210","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
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
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":"<p><p>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.</p>","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":"<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
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":"<p><p>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.</p>","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":"<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
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