KEIO JOURNAL OF MEDICINE最新文献_第3页

Multiple Mutations within Individual Oncogenes: Examples and Clinical Implications. 单个癌基因内的多重突变：实例和临床意义。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-09-25 Epub Date: 2023-03-21 DOI: 10.2302/kjm.2022-0026-OA

Keisuke Kataoka, Yuki Saito

引用次数: 0

Senso-immunology: The Emerging Connection between Pain and Immunity. Senso免疫学：疼痛和免疫之间的新联系。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-09-25 Epub Date: 2023-07-15 DOI: 10.2302/kjm.2022-0037-IR

Kenta Maruyama

{"title":"Senso-immunology: The Emerging Connection between Pain and Immunity.","authors":"Kenta Maruyama","doi":"10.2302/kjm.2022-0037-IR","DOIUrl":"10.2302/kjm.2022-0037-IR","url":null,"abstract":"The sensory and immune systems have been studied independently for a long time, whereas the interaction between the two has received little attention. We have carried out research to understand the interaction between the sensory and immune systems and have found that inflammation and bone destruction caused by fungal infection are suppressed by nociceptors. Furthermore, we have elucidated the molecular mechanism whereby fungal receptors are expressed on nociceptors and skin epithelium, how they cooperate to generate fungal pain, and how colitis and bone metabolism are regulated by mechanosensors expressed on the gut epithelium. Recently, we found that nociceptors prevent septic death by inhibiting microglia via nociceptor-derived hormones. This review summarizes our current state of knowledge on pain biology and outlines the mechanisms whereby pain and immunity interact. Our findings indicate that the sensory and immune systems share a variety of molecules and interact with each other to regulate our pathological and homeostatic conditions. This prompted us to advocate the interdisciplinary science named \"senso-immunology,\" and this emerging field is expected to generate new ideas in both physiology and immunology, leading to the development of novel drugs to treat pain and inflammation.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"77-87"},"PeriodicalIF":2.0,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185805","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 2

KEIO JOURNAL OF MEDICINE Pub 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 2

KEIO JOURNAL OF MEDICINE Pub 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":"https://doi.org/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":""},"PeriodicalIF":2.0,"publicationDate":"2023-08-10","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

Tuberous Sclerosis Complex. 结节性硬化症

IF 2

KEIO JOURNAL OF MEDICINE Pub 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":"https://doi.org/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":""},"PeriodicalIF":2.0,"publicationDate":"2023-08-02","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: 1

Molecular Basis of Hereditary Hair Diseases. 遗传性头发疾病的分子基础。

IF 2

KEIO JOURNAL OF MEDICINE Pub 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":"https://doi.org/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":""},"PeriodicalIF":2.0,"publicationDate":"2023-07-04","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

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 2

KEIO JOURNAL OF MEDICINE Pub 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":"https://doi.org/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":""},"PeriodicalIF":2.0,"publicationDate":"2023-06-29","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

Clinical Complete Response of Recurrent Gastric Cancer after Third-line CPT-11 Chemotherapy. 胃癌复发三线CPT-11化疗后的临床完全缓解

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-06-25 DOI: 10.2302/kjm.2022-0004-CR

Masato Hayashi, Takeshi Fujita, Hisayuki Matsushita

{"title":"Clinical Complete Response of Recurrent Gastric Cancer after Third-line CPT-11 Chemotherapy.","authors":"Masato Hayashi, Takeshi Fujita, Hisayuki Matsushita","doi":"10.2302/kjm.2022-0004-CR","DOIUrl":"https://doi.org/10.2302/kjm.2022-0004-CR","url":null,"abstract":"A 75-year-old man underwent distal gastrectomy for advanced gastric cancer in September 2018. During the adjuvant chemotherapy, computed tomography (CT) revealed recurrence sites in the liver and para-aortic lymph nodes. Therefore, chemotherapy was initiated. After first-line (capecitabine with oxaliplatin) and second-line (paclitaxel with ramucirumab) treatments, nivolumab was used as third-line chemotherapy. This treatment showed a strong effect against the tumor. However, following an immune-related adverse effect (irAE) because of nivolumab, the therapy was halted. The irAE was diagnosed with central adrenal insufficiency that was controllable by oral intake of steroids. CPT-11 was started and showed a similarly strong effect to that observed for nivolumab. Eventually, the recurrent tumor lesions became too small to be detected by CT. We discontinued CPT-11 at the request of the patient. Even after discontinuation, no recurrent sites have been observed, allowing us to declare a case of clinical complete response (cCR). In conclusion, even if irAEs occur in a patient, continuing chemotherapy should be considered. However, if cCR is achieved, discontinuation of chemotherapy might be a strategic treatment option.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":"72 2","pages":"60-64"},"PeriodicalIF":2.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690290","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

Pupil Dynamics-derived Sleep Stage Classification of a Head-fixed Mouse Using a Recurrent Neural Network. 基于瞳孔动态的头部固定小鼠睡眠阶段分类。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-06-25 DOI: 10.2302/kjm.2022-0020-OA

Goh Kobayashi, Kenji F Tanaka, Norio Takata

{"title":"Pupil Dynamics-derived Sleep Stage Classification of a Head-fixed Mouse Using a Recurrent Neural Network.","authors":"Goh Kobayashi, Kenji F Tanaka, Norio Takata","doi":"10.2302/kjm.2022-0020-OA","DOIUrl":"https://doi.org/10.2302/kjm.2022-0020-OA","url":null,"abstract":"The standard method for sleep state classification is thresholding the amplitudes of electroencephalography (EEG) and electromyography (EMG) data, followed by manual correction by an expert. Although popular, this method has some shortcomings: (1) the time-consuming manual correction by human experts is sometimes a bottleneck hindering sleep studies, (2) EEG electrodes on the skull interfere with wide-field imaging of the cortical activity of a head-fixed mouse under a microscope, (3) invasive surgery to fix the electrodes on the thin mouse skull risks brain tissue injury, and (4) metal electrodes for EEG and EMG recording are difficult to apply to some experimental apparatus such as that for functional magnetic resonance imaging. To overcome these shortcomings, we propose a pupil dynamics-based vigilance state classification method for a head-fixed mouse using a long short-term memory (LSTM) model, a variant of a recurrent neural network, for multi-class labeling of NREM, REM, and WAKE states. For supervisory hypnography, EEG and EMG recording were performed on head-fixed mice. This setup was combined with left eye pupillometry using a USB camera and a markerless tracking toolbox, DeepLabCut. Our open-source LSTM model with feature inputs of pupil diameter, pupil location, pupil velocity, and eyelid opening for 10 s at a 10 Hz sampling rate achieved vigilance state estimation with a higher classification performance (macro F1 score, 0.77; accuracy, 86%) than a feed-forward neural network. Findings from a diverse range of pupillary dynamics implied possible subdivision of the vigilance states defined by EEG and EMG. Pupil dynamics-based hypnography can expand the scope of alternatives for sleep stage scoring of head-fixed mice.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":"72 2","pages":"44-59"},"PeriodicalIF":2.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690291","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

Network Approaches to Uncover Pathogenesis and Therapeutic Targets of Inflammatory Bowel Diseases. 揭示炎症性肠病发病机制和治疗靶点的网络方法。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-06-25 DOI: 10.2302/kjm.2022-0015-IR

Yohei Mikami, Takanori Kanai

引用次数: 0