KEIO JOURNAL OF MEDICINE最新文献_第2页

Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis. 婴儿嗜酸性胃肠炎罕见表现为低钙引起的癫痫。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2024-03-25 Epub Date: 2023-11-30 DOI: 10.2302/kjm.2023-0009-CR

Ryunosuke Sugimoto, Tomohiro Inoguchi, Aiko Isobe, Sachiko Kaburagi, Masayuki Akashi

{"title":"Seizure caused by Hypocalcemia as a Rare Manifestation in an Infant with Eosinophilic Gastroenteritis.","authors":"Ryunosuke Sugimoto, Tomohiro Inoguchi, Aiko Isobe, Sachiko Kaburagi, Masayuki Akashi","doi":"10.2302/kjm.2023-0009-CR","DOIUrl":"10.2302/kjm.2023-0009-CR","url":null,"abstract":"Eosinophilic gastroenteritis (EGE) can occur throughout the gastrointestinal tract, from the stomach to the colon. Typical known symptoms are abdominal pain, nausea, vomiting, and diarrhea. In addition, lesions in the intestinal mucosa may cause weight loss, protein-losing enteropathy (PLE), and other problems. A 6-month-old girl with no previous medical history was brought to our hospital after an afebrile 1-min clonic seizure. Blood tests showed low concentrations of serum calcium and albumin. After the correction of hypocalcemia with gluconic acid, there was no recurrence of seizure. Technetium-99m scintigraphy showed slight leakage of protein from the intestinal tract, which led us to conclude that the hypocalcemia and hypoalbuminemia were caused by PLE. Gastrointestinal endoscopy and biopsy performed to detect the cause of PLE revealed the presence of EGE. After starting administration of an amino acid-based formula, gastrointestinal symptoms of diarrhea or vomiting did not reappear. The serum albumin concentration normalized, and her weight gain improved. We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"8-11"},"PeriodicalIF":2.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463410","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

The Cornea: An Ideal Tissue for Regenerative Medicine. 角膜：再生医学的理想组织。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2024-03-25 Epub Date: 2024-02-17 DOI: 10.2302/kjm.2023-0001-IR

Shigeto Shimmura, Emi Inagaki, Masatoshi Hirayama, Shin Hatou

引用次数: 0

Molecular Basis of Angiogenesis and its Application. 血管生成的分子基础及其应用。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2024-01-01 DOI: 10.2302/kjm.ABSTRACT_73_1-1

Napoleone Ferrara

{"title":"Molecular Basis of Angiogenesis and its Application.","authors":"Napoleone Ferrara","doi":"10.2302/kjm.ABSTRACT_73_1-1","DOIUrl":"10.2302/kjm.ABSTRACT_73_1-1","url":null,"abstract":"Angiogenesis, the development of new blood vessels, is a fundamental physiological process. In addition, angiogenesis plays a key role in the pathogenesis of several disorders, including cancer and eye disorders such as diabetic retinopathy and age-related macular degeneration (AMD). However, identifying the regulators of angiogenesis proved challenging. Numerous factors that stimulated angiogenesis in various bioassays were identified, but their pathophysiological role remained unclear. In 1989, we reported the isolation and cloning of vascular endothelial growth factor (VEGF, VEGF-A) as an endothelial cell-specific mitogen and angiogenic factor. The tyrosine kinases Flt-1 (VEGFR-1) and KDR (VEGFR-2) were subsequently identified as VEGF receptors. Loss of a single vegfa allele results in defective vascularization and embryonic lethality in mice, emphasizing the essential role of VEGF in the development of blood vessels. Subsequently, we reported that anti-VEGF monoclonal antibodies block growth and neovascularization in tumor models. These findings paved the way for the clinical development of a humanized anti-VEGF antibody and other VEGF inhibitors for cancer therapy. To date, several VEGF inhibitors represent standard of care for colorectal cancer and other difficult to treat malignancies. VEGF is also implicated in intraocular neovascularization associated with retinal disorders as well as neovascular AMD. Our group developed a humanized anti-VEGF-A antibody fragment (ranibizumab) for the treatment of wet AMD. Ranibizumab not only maintained but also improved visual acuity and has been approved worldwide for the treatment of wet AMD and other neovascular disorders. Other VEGF inhibitors, including bevacizumab and aflibercept, have also resulted in significant clinical benefits. Today anti-VEGF drugs represent the most effective therapy for intraocular neovascularization. Current research addresses the need to reduce the frequency of intravitreal injections as well the identification of additional pro-angiogenic pathways that could result in improving therapeutic outcomes.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":"73 1","pages":"12"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207856","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

Elucidation of molecular mechanism of the unfolded protein response. 阐明未折叠蛋白反应的分子机制。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2024-01-01 DOI: 10.2302/kjm.ABSTRACT_73_1-2

Kazutoshi Mori

{"title":"Elucidation of molecular mechanism of the unfolded protein response.","authors":"Kazutoshi Mori","doi":"10.2302/kjm.ABSTRACT_73_1-2","DOIUrl":"10.2302/kjm.ABSTRACT_73_1-2","url":null,"abstract":"The endoplasmic reticulum (ER), where newly synthesized secretory and transmembrane proteins are folded and assembled, has the ability to discriminate folded proteins from unfolded proteins and controls the quality of synthesized proteins. Only correctly folded molecules are allowed to move along the secretory pathway, whereas unfolded proteins are retained in the ER.The ER contains a number of molecular chaperones and folding enzymes (ER chaperones hereafter), which assist productive folding of proteins, and therefore newly synthesized proteins usually gain correct tertiary and quaternary structures quite efficiently. Yet unfolded or misfolded proteins even after assistance of ER chaperones are retrotranslocated back to the cytosol, ubiquitinated and degraded by the proteasome. This disposal system is called ER-associated degradation (ERAD). Thus, the quality of proteins in the ER is ensured by two distinct mechanisms, productive folding and ERAD, which have opposite directions.Under a variety of conditions collectively termed ER stress, however, unfolded or misfolded proteins accumulate in the ER, which in turn activates ER stress response or Unfolded Protein Response (UPR). The UPR is mediated by transmembrane proteins in the ER, and three ER stress sensors/transducers, namely IRE1, PERK and ATF6, operates ubiquitously in mammals. Thanks to these signaling pathways, translation is generally attenuated to decrease the burden on the folding machinery; transcription of ER chaperones is induced to augment folding capacity; and transcription of components of ERAD machinery is induced to enhance degradation capacity, leading to maintenance of the homeostasis of the ER. If ER stress sustains, cells undergo to apoptosis.I will talk on the mechanism, evolution, and physiological importance of the UPR and ERAD as well as its involvement in development and progression of various diseases.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":"73 1","pages":"13"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207887","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

Fundamental principle of adult spinal deformity. 成人脊柱畸形的基本原理。

IF 1.1

KEIO JOURNAL OF MEDICINE Pub Date : 2024-01-01 DOI: 10.2302/kjm.ABSTRACT_73-2-1

Munish Gupta

引用次数: 0

Current Management of Chronic Constipation in Japan. 日本对慢性便秘的管理现状。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-12-25 Epub Date: 2023-08-22 DOI: 10.2302/kjm.2022-0036-IR

Tatsuhiro Masaoka

引用次数: 0

Aseptic Meningitis after BNT-162b2 COVID-19 Vaccination: Case Report and Literature Review. BNT-162b2新冠肺炎疫苗接种后无菌性脑膜炎：病例报告和文献回顾。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-12-25 Epub Date: 2023-09-23 DOI: 10.2302/kjm.2022-0034-CR

Yuji Kato, Takashi Osada, Nobuo Araki, Shinichi Takahashi

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 2

KEIO JOURNAL OF MEDICINE Pub 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

Pachyonychia Congenita: Clinical Features and Future Treatments. 先天性厚甲沟炎：临床特点和未来治疗。

IF 2

KEIO JOURNAL OF MEDICINE Pub 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":"https://doi.org/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":""},"PeriodicalIF":2.0,"publicationDate":"2023-09-28","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

Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease. 足细胞靶向DNA甲基化治疗慢性肾脏疾病。

IF 2

KEIO JOURNAL OF MEDICINE Pub Date : 2023-09-25 Epub Date: 2023-06-03 DOI: 10.2302/kjm.2022-0017-IR

Kaori Hayashi

{"title":"Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease.","authors":"Kaori Hayashi","doi":"10.2302/kjm.2022-0017-IR","DOIUrl":"10.2302/kjm.2022-0017-IR","url":null,"abstract":"The number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly related to their function. Epigenetic changes responsible for the regulation of gene expression related to podocyte morphology have been shown to be important in the pathogenesis of CKD. Although epigenetic mechanisms include DNA methylation, histone modifications, and RNA-based regulation, we have focused on DNA methylation changes because they are more stable than other epigenetic modifications. This review summarizes recent literature about the role of altered DNA methylation in the kidney, especially in glomerular podocytes, focusing on transcription factors and DNA damage responses that are closely associated with the formation of DNA methylation changes.","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"67-76"},"PeriodicalIF":2.0,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9946209","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