{"title":"Congenital hypofibrinogenemia with a novel mutation BβCys76Phe.","authors":"Motoki Sugasaki, Shingen Nakamura, Shinpei Arai, Keisuke Teramoto, Minami Urushihara, Yusuke Inoue, Takayuki Nakao, Yasuhiko Nishioka, Masataka Sata","doi":"10.2152/jmi.72.182","DOIUrl":"https://doi.org/10.2152/jmi.72.182","url":null,"abstract":"<p><strong>Objective: </strong>Identified genetic mutation in the patient with unexplained decreased fibrinogen activity.</p><p><strong>Methods: </strong>We conducted a detailed examination of the patient's fibrinogen activity level, antigen level, and genomic sequence.</p><p><strong>Results: </strong>The patient's fibrinogen activity level was 80 mg / dL and the antigen level was 131 mg / dL. Upon sequencing of the fibrinogen gene, a novel heterozygous c.Bβ227G > T mutation was detected in Bβ-chain, which results in the cysteine residue at position 76 in exon 3 being converted to a phenylalanine residue.</p><p><strong>Conclusions: </strong>This mutation reduces fibrinogen activity and antigen levels, but the pathophysiology of this mutation remains unclear. J. Med. Invest. 72 : 182-184, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"182-184"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015338","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}
{"title":"Effects of vitamin D on muscle mass and function in high school athletes.","authors":"Hiroaki Nakajima, Yasushi Matsuura, Yasuhito Takeuchi, Rie Tsutsumi, Ayuka Kawakami, Mizusa Hyoudou, Kazuhiro Nomura, Hiroshi Sakaue, Teruhiro Morishita, Eiji Takeda","doi":"10.2152/jmi.72.167","DOIUrl":"https://doi.org/10.2152/jmi.72.167","url":null,"abstract":"<p><p>Nutrition and exercise have effects on the body. The aim of the present study was to assess vitamin D status (serum 25-hydroxyvitamin D [25(OH)D] levels) and investigate its associations with muscle mass and function, as well as the effects of vitamin D supplementation on muscle function in high school athletes. Twenty-one high-school athlete students (6 males and 15 females) participated in this study. The serum 25(OH)D levels of 15 athletes (71.4%) with vitamin D insufficiency (VDI)/vitamin D deficiency (VDD) were and those of six athletes (28.6%) with vitamin D sufficiency (VDS) were 24.2 (22.3-27.0) ng/mL and 35.8 (33.0-38.9) ng/mL, respectively. Serum 25(OH)D concentration was significantly associated with total power in the male, female, and total athlete groups. Daily 1,000 IU vitamin D supplementation for 6 months increased serum vitamin D levels from 27.0 (22.9-32.1) ng/mL to 37.9 (28.9-40.9) ng/mL and improved muscle function in the total athlete group. Our findings suggest that daily 1,000 IU vitamin D supplementation should be recommended to optimize maximal aerobic power in high school athletes. J. Med. Invest. 72 : 167-171, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"167-171"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001330","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}
{"title":"Benign focal small bowel lesions : a review of the features on multiphasic multidetector computed tomography.","authors":"Takayoshi Shinya, Yuji Morine, Hiroki Ishibashi, Hironori Tanaka, Junichiro Hiraoka, Yukiko Takaoka, Yoichi Otomi, Hisanori Uehara, Koichi Tsuneyama, Tetsuji Takayama, Mitsuo Shimada, Masafumi Harada","doi":"10.2152/jmi.72.1","DOIUrl":"https://doi.org/10.2152/jmi.72.1","url":null,"abstract":"<p><p>The detection of small bowel lesions and their discrimination from normal bowel tissue are the most elementary and important factors in the computed tomography (CT) diagnosis of focal small bowel lesions. The detection and characterization of small bowel lesions have recently improved with advances in CT technology. Post-contrast multiphasic multidetector CT (MDCT) aids in the assessment of the vascular features of focal small bowel lesions. Understanding the typical multiphasic MDCT features of focal small bowel lesions is valuable because CT features overlap, and the severity and associated complications need to be assessed. However, it is often difficult to accurately diagnose focal small bowel lesions on MDCT, and histological examination is required in many cases in clinical practice. Clinical applications have been recently developed to effectively utilize dual-energy CT in the image analysis of small bowel lesions. In addition, the challenge of evaluating small bowel lesions with the aid of artificial intelligence has attracted attention in recent years. This review aimed to provide a comprehensive guide for the relevant imaging features of different types of benign focal small bowel lesions. J. Med. Invest. 72 : 1-7, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"1-7"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053705","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}
{"title":"Farnesoid X receptor agonist accelerates ammonium metabolism of mesenchymal stem cell-derived hepatocyte-like cells.","authors":"Yu Saito, Shuhai Chen, Tetsuya Ikemoto, Hiroki Teraoku, Shinichiro Yamada, Yuji Morine, Mitsuo Shimada","doi":"10.2152/jmi.72.54","DOIUrl":"https://doi.org/10.2152/jmi.72.54","url":null,"abstract":"<p><strong>Background: </strong>Accelerating ammonium metabolism of hepatocyte like cells (HLCs) is critical for various functions of hepatocytes. The aim of the present study was to investigate whether Farnesoid X receptor (FXR) agonist, obeticholic acid (OCA), accelerated ammonium metabolism of HLCs, which was derived from adipose derived mesenchymal stem cells (ADSCs).</p><p><strong>Methods: </strong>Human ADSCs were seed in flat bottom plate, then our differentiation protocol was used for 21 days. OCA treatment had been performed in Step3 for 10days. Then, 1) hepatic maturation, 2) urea cycle genes, 3) urea production, and 4) ammonium metabolism was compared depend on the presence or absence of OCA.</p><p><strong>Results: </strong>HLCs had been successfully produced for 21 days. HLCs with OCA showed significantly higher mRNA expressions of AAT than those without OCA. HLCs with OCA showed significantly higher mRNA expressions of urea cycle genes such as SLC25A13, CPS1, and OTC. Urea production was also tended to be upregulated by OCA addition. HLCs with OCA showed significantly higher clearance of NH4Cl at 6hr and 24 hr after addition of NH4Cl.</p><p><strong>Conclusion: </strong>FXR agonist, OCA, accelerates ammonium metabolism of ADSCs derived HLCs. HLCs could be one of treatment options of hepatic encephalopathy of patients with liver failure or urea cycle disorder in the future. J. Med. Invest. 72 : 54-59, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"54-59"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040793","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}
{"title":"A case of synchronous colorectal cancers including ascending and sigmoid colon cancer showing different genomic profiles in the examination of microsatellite instability, associated with acute appendicitis due to appendiceal goblet cell adenocarcinoma.","authors":"Takayuki Miyauchi, Kazuo Matsuyama, Masashi Ishikawa, Miwako Kagawa","doi":"10.2152/jmi.72.194","DOIUrl":"https://doi.org/10.2152/jmi.72.194","url":null,"abstract":"<p><strong>Background: </strong>Appendiceal goblet cell adenocarcinomas (GCA) are rare. Most patients who undergo appendectomy have acute appendicitis. The detection of synchronous colorectal cancer (SCRC) has increased with advances in diagnostic imaging and endoscopic examinations. However, only two cases of SCRC, including appendiceal GCA, have been reported to date. We recently encountered an extremely rare case of SCRC, involving appendiceal GCA, ascending colon cancer (ACC), and sigmoid colon cancer (SCC). Herein, we present this case and provide a discussion on the relevant literature.</p><p><strong>Case presentation: </strong>A 69-year-old man presented to our hospital with right lower abdominal pain. Based on contrast-enhanced computed tomography (CE-CT), the patient was diagnosed with SCRC and acute appendicitis caused by appendiceal neoplasm and ACC. The patient underwent emergency laparotomy, and right colectomy with lymph node dissection (LD). Intraoperatively, we palpated the remaining segment of the colorectum whenever possible and incidentally detected SCC. Therefore, sigmoid resection with LD was suggested.</p><p><strong>Conclusion: </strong>When treating acute appendicitis, it is important to consider the possibility of an extremely rare appendiceal tumor as the cause. If possible, CE-CT should be performed to ensure appropriate image interpretation during an unlikely SCRC event. J. Med. Invest. 72 : 194-201, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"194-201"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040904","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}
Shingen Nakamura, Yusaku Maeda, Taiki Hori, Masahiro Oura
{"title":"Hematology in community medical care.","authors":"Shingen Nakamura, Yusaku Maeda, Taiki Hori, Masahiro Oura","doi":"10.2152/jmi.72.21","DOIUrl":"https://doi.org/10.2152/jmi.72.21","url":null,"abstract":"<p><p>Community medical care faces challenges such as the uneven distribution of physicians, fluctuating medical demand, and the increased relative demand for physicians due to the increased specialization of medical fields. Hematologists primarily address issues, such as abnormal blood cell counts, lymphadenopathy, persistent fever, and coagulation abnormalities, which indicate hematological diseases. However, the emphasis on treating hematologic diseases within community medicine remains relatively low. Accurate and reliable differentiation and identification of hematological diseases with the cooperation of laboratory technicians and support of artificial intelligence is necessary. Significant advances have been made in the treatment of hematological diseases; however, small community hospitals often lack access to these treatments and are unable to conduct clinical trials that require specialized equipment such as for chimeric antigen receptor T-cell therapy. In the future, hematologists will need to focus on developing their careers within the community and further optimizing their practice to enhance patient care. J. Med. Invest. 72 : 21-25, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"21-25"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004301","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}
Toshiya Akiyama, Allan Paulo L Blaquera, Leah Anne Christine Bollos, Gil P Soriano, Hirokazu Ito, Ryuichi Tanioka, Hidehiro Umehara, Kyoko Osaka, Tetsuya Tanioka
{"title":"Reliability of Emotion Analysis from Human Facial Expressions Using Multi-task Cascaded Convolutional Neural Networks.","authors":"Toshiya Akiyama, Allan Paulo L Blaquera, Leah Anne Christine Bollos, Gil P Soriano, Hirokazu Ito, Ryuichi Tanioka, Hidehiro Umehara, Kyoko Osaka, Tetsuya Tanioka","doi":"10.2152/jmi.72.93","DOIUrl":"https://doi.org/10.2152/jmi.72.93","url":null,"abstract":"<p><p>Life support robots in care settings must be able to read a person's emotions from facial expressions to achieve empathic communication. This study aims to determine the degree of agreement between Multi-task Cascaded Convolutional Neural Networks (MTCNN) results and human subjective emotion analysis as a function to be installed in this type of robot. Forty university students talked with PALRO robot for 10 minutes. Thirteen area of interest videos were used to assess the validity identified by MTCNN was facial expression was happy or combination of happy and other emotions. Twenty university students and 20 medical professionals identified which of the 7 emotions (angry, disgust, fear, happy, sad, surprise, neutral) were present. Fleiss' kappa coefficient was calculated. Kappa coefficients of the emotion analysis for seven emotions ranged from 0.21 to 0.28. Kappa coefficient for \"Happy\" was the highest (0.52 to 0.57) with moderate agreement. Among female university students, only \"Surprise\" had a moderate agreement with Fleiss' kappa coefficient of 0.48. MTCNN emotion analysis and human emotion analysis were in moderate agreement for the identification of \"Happy\" emotions. The comparison of the agreement between the results of emotion analysis from facial expressions using non-contact MTCNN and subjective human facial expression analysis suggested that the use of MTCNN may be effective in understanding subjects' happy feelings. J. Med. Invest. 72 : 93-101, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"93-101"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040928","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}
{"title":"Bergenin promotes mitochondrial biogenesis via the AMPK/SIRT1 axis in hepatocytes.","authors":"Yuki Nagara, Kentaro Tsuji, Yuki Kamei, Mitsugu Akagawa","doi":"10.2152/jmi.72.66","DOIUrl":"https://doi.org/10.2152/jmi.72.66","url":null,"abstract":"<p><p>Aging and obesity trigger liver mitochondrial decline, impairing liver function and energy metabolism. Effective hepatic mitochondrial biogenesis helps maintain and restore hepatocyte function. The effects of bergenin, a polyphenol with various pharmacological effects, on hepatic mitochondrial biogenesis remain unclear. Therefore, we aimed to determine its effects on mitochondrial biogenesis in hepatocytes. We measured mitochondrial content in human HepG2 hepatocytes using MitoTracker Green FM ; intracellular ATP content using an ATP assay kit ; and mitochondrial DNA (mtDNA) using the ratio of mtDNA to nuclear DNA by qPCR. Protein levels were analyzed using immunoblotting. Nuclear translocation of peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α) was assessed by immunofluorescence staining and immunoblotting. In human HepG2 hepatocytes, bergenin increased mitochondrial content, elevated mitochondrial DNA and constituent proteins, and enhanced intracellular ATP levels and PGC-1α nuclear translocation, possibly promoting mitochondrial biosynthesis. SIRT1 expression was induced in bergenin-treated cells and may be responsible for bergenin-inducible mitochondrial biogenesis, which was abolished by the SIRT1 inhibitor EX-527. Furthermore, bergenin activated AMP-activated protein kinase (AMPK). Compound C, an AMPK inhibitor, abolished bergenin-induced SIRT1 expression and mitochondrial biogenesis. Overall, bergenin activates hepatic mitochondrial biogenesis through the AMPK / SIRT1 axis, which could help to prevent and ameliorate serious aging- and obesity-related liver diseases. J. Med. Invest. 72 : 66-75, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"66-75"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021579","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}
{"title":"The number of teeth is a prognostic indicator for chemotherapy in colorectal cancer.","authors":"Toshihiro Nakao, Mitsuo Shimada, Takuya Tokunaga, Masaaki Nishi, Hideya Kashihara, Chie Takasu, Yuma Wada, Toshiaki Yoshimoto","doi":"10.2152/jmi.72.134","DOIUrl":"https://doi.org/10.2152/jmi.72.134","url":null,"abstract":"<p><strong>Background: </strong>The oral and gut microbiomes are linked to prognosis in colorectal cancer patients undergoing surgery, chemotherapy, or radiotherapy. Dysbiosis in the oral microbiome can lead to tooth decay, periodontitis, and gingivitis, resulting in tooth loss. This study examined the relationship between tooth count and chemotherapy outcomes in colorectal cancer patients.</p><p><strong>Method: </strong>This retrospective cohort study involved 42 patients receiving chemotherapy for unresectable advanced or metastatic colorectal cancer at Tokushima University Hospital between October 2016 and December 2021. Prior to chemotherapy, dental panoramic radiographs were taken to determine tooth count. Patients were grouped based on the number of teeth (≥17 vs. ≤16), and overall survival (OS), progression-free survival (PFS), and adverse events were compared.</p><p><strong>Results: </strong>Patients with ≤16 teeth had significantly worse OS than those with ≥17 teeth (p = 0.024). PFS tended to be worse in patients with ≤16 teeth, albeit without significance (p = 0.097). The incidence of various adverse events did not differ between the groups. Anemia was the most common adverse event in patients with ≤16 teeth. Conversely, neutropenia was the most common adverse event in patients with ≥17 teeth.</p><p><strong>Conclusion: </strong>The number of teeth could be easily examined prognostic factor for chemotherapy in colorectal cancer. J. Med. Invest. 72 : 134-138, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"134-138"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987773","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}
{"title":"A combined health promotion program of exercise with protein and vitamin D-enriched menu enhances skeletal muscle mass and strength in Japanese elderly men.","authors":"Ge Li, Yuka Kawakami-Shinoda, Alima, Masaki Takiwaki, Kentaro Abe, Toshio Hosaka, Toshinao Goda, Hidekazu Arai","doi":"10.2152/jmi.72.76","DOIUrl":"https://doi.org/10.2152/jmi.72.76","url":null,"abstract":"<p><p>The study aimed to investigate the effectiveness of combining a protein and vitamin D-enriched menu with an exercise program to reduce frailty risk and enhance muscle performance. However, current evidence lacks accurate dosage and effectiveness information for this combination. This study involved Japanese men in their 60s who were randomly assigned to two groups : the ExN group, which received a 10-day exercise program along with enriched diet, and the Ex group, which underwent the exercise program alone. The effects of these interventions on muscle mass, strength, and serum vitamin D metabolite levels were assessed. The ExN intervention resulted in a significant increase in skeletal muscle mass and serum 25-hydroxyvitamin D3 (25(OH)D3) levels, while the Ex intervention did not yield the same effects. These results indicate that a combined program of exercise with protein and vitamin D-enriched meal improves serum 25(OH)D3 levels and skeletal muscle mass among older Japanese men. J. Med. Invest. 72 : 76-84, February, 2025.</p>","PeriodicalId":46910,"journal":{"name":"JOURNAL OF MEDICAL INVESTIGATION","volume":"72 1.2","pages":"76-84"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053838","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}