Article
Medicine, General & Internal
Hiroyuki Suzuki, Teruko Arinaga-Hino, Tomoya Sano, Yutaro Mihara, Hironori Kusano, Tatsuki Mizuochi, Takao Togawa, Shogo Ito, Tatsuya Ide, Reiichiro Kuwahara, Keisuke Amano, Toshihiro Kawaguchi, Hirohisa Yano, Masayoshi Kage, Hironori Koga, Takuji Torimura
Summary: This study describes a case of BRIC1 in a patient with a novel heterozygous pathogenic variant of ATP8B1. The patient presented with intermittent jaundice and intense pruritus, and was diagnosed with BRIC1 based on laboratory examinations and histopathological assessment. Treatment with rifampicin effectively relieved the symptoms.
FRONTIERS IN MEDICINE
(2022)
Article
Plant Sciences
Shasha Qin, Jingzhuo Tian, Yong Zhao, Lianmei Wang, Jinyu Wang, Suyan Liu, Jing Meng, Fang Wang, Chenyue Liu, Jiayin Han, Chen Pan, Yushi Zhang, Yan Yi, Chunying Li, Meiting Liu, Aihua Liang
Summary: This study aims to systematically elucidate the mechanism by which Gardenia extract ameliorates ANIT-induced cholestatic liver injury.
JOURNAL OF ETHNOPHARMACOLOGY
(2024)
Review
Medicine, General & Internal
Maciej Majsterek, Magdalena Wierzchowska-Opoka, Inga Makosz, Lena Kreczynska, Zaneta Kimber-Trojnar, Bozena Leszczynska-Gorzelak
Summary: Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-related condition characterized by elevated levels of bile acids (BAs) in blood serum and an increased risk of adverse perinatal outcomes. Early diagnosis and prompt management based on BA levels are crucial in reducing fetal complications.
Article
Medicine, General & Internal
Roberta Granese, Gloria Calagna, Angela Alibrandi, Canio Martinelli, Paola Romeo, Roberto Filomia, Maria Immacolata Ferraro, Eleonora Piccione, Alfredo Ercoli, Carlo Saitta
Summary: The study aimed to evaluate the outcomes of intrahepatic cholestasis of pregnancy (ICP) on both maternal and fetal health. A retrospective case-control study was conducted, including pregnant women diagnosed with ICP between January 2010 and December 2020 at a university hospital. The results showed a higher incidence of hypothyroidism, thrombophilia, gestational diabetes, gestational hypertension, postpartum hemorrhage, and preterm delivery in ICP patients compared to the control group. However, there were no recorded neonatal adverse events and no signs of chronic liver disease in ICP patients during the 24-month follow-up.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Obstetrics & Gynecology
Rebecca Horgan, Christiana Bitas, Alfred Abuhamad
Summary: This study compared the guidelines for the diagnosis, antepartum surveillance, and timing of delivery of pregnancies complicated by intrahepatic cholestasis of pregnancy published by the Society for Maternal-Fetal Medicine and the Royal College of Obstetricians and Gynaecologists. The two organizations have several key differences in their clinical guidelines, including the criteria for diagnosing intrahepatic cholestasis of pregnancy and the recommended treatments. The Society for Maternal-Fetal Medicine recommends fetal surveillance and specific delivery timing based on bile acid levels, while the Royal College of Obstetricians and Gynaecologists does not recommend additional fetal testing beyond kick count assessment and stratifies delivery timing based on bile acid levels.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Review
Medicine, Research & Experimental
Zhuoqiao Yang, Mengxin Yao, Chunhua Zhang, Xuan Hu, Yi Zhong, Xiangxiang Xu, Jieyun Yin
Summary: This study reviewed metabolomics studies related to intrahepatic cholestasis of pregnancy (ICP), revealing dysregulation of bile acid metabolism and lipid metabolism. Metabolomics shows potential for the diagnosis of ICP.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Edgar Ontsouka, Alessandra Epstein, Sampada Kallol, Jonas Zaugg, Marc Baumann, Henning Schneider, Christiane Albrecht
Summary: The study found significant alterations in placental SLCO3A1 (OATP3A1) gene expression in patients with intrahepatic cholestasis of pregnancy (ICP), while the expression levels of the other 20 genes were comparable between healthy and ICP placentae. Additionally, certain genes in ICP placentae showed positive correlations with BA concentrations and maternal body mass index.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Holmfridur Helgadottir, Geir Folvik, Mette Vesterhus
Summary: Episodic treatment with rifampicin seems to ameliorate severity and shorten the duration of attacks in patients with BRIC1.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Biology
Thibaud Dieudonne, Sara Abad Herrera, Michelle Juknaviciute Laursen, Maylis Lejeune, Charlott Stock, Kahina Slimani, Christine Jaxel, Joseph A. Lyons, Cedric Montigny, Thomas Guenther Pomorski, Poul Nissen, Guillaume Lenoir
Summary: Research reveals that the human lipid flippase ATP8B1-CDC50A is autoinhibited by its N- and C-terminal tails, and ATP hydrolysis is unleashed by truncation of the C-terminus. However, it also requires phosphoinositides for full activation. Restoring inhibition of ATP8B1 truncation constructs with a synthetic peptide suggests molecular communication between the N- and C-termini and interference with the regulatory mechanism by exogenous compounds.
Article
Medicine, General & Internal
Huayu Chen, Dongbo Wu, Wei Jiang, Ting Lei, Changli Lu, Taoyou Zhou
Summary: BRIC is a rare hereditary cholestatic liver disorder that requires accurate diagnosis and timely interventions. Genetic studies play a crucial role in diagnosing this disease. This case report highlights the importance of a different perspective in methodology when dealing with jaundice cases and diagnosing rare diseases.
FRONTIERS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Ken Kato, Shuichiro Umetsu, Takao Togawa, Koichi Ito, Takayoshi Kawabata, Teruko Arinaga-Hino, Naoya Tsumura, Ryosuke Yasuda, Yutaro Mihara, Hironori Kusano, Shogo Ito, Kazuo Imagawa, Hisamitsu Hayashi, Ayano Inui, Yushiro Yamashita, Tatsuki Mizuochi
Summary: This is the first multicenter study focused on East Asian patients with BRIC. The study found variations in age of onset and number of cholestatic attacks among these patients. Rifampicin and cholestyramine were effective in treating the attacks, and the long-term outcomes were satisfactory with no development of cirrhosis.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biotechnology & Applied Microbiology
Lu Shi, Tiantian Zhao, Lei Huang, Xiaomin Pan, Tianzhen Wu, Xin Feng, Taoli Chen, Jiamin Wu, Jianlou Niu
Summary: Our study found that similar to FGF19(WT), chronic administration of FGF19(Delta KLB) protected mice from cholestatic liver injury in two models. The therapeutic benefits of FGF19(Delta KLB) on cholestatic liver damage are attributed to reduced bile acid production, liver inflammation, and fibrosis. Importantly, FGF19(Delta KLB) did not induce tumorigenesis effects during prolonged treatment.
Article
Immunology
Qiong-xi Lin, Wan-wen Huang, Wei Shen, Xiao-shi Deng, Zi-yu Tang, Zhen-hui Chen, Wei Zhao, Hong-ying Fan
Summary: Intrahepatic cholestasis of pregnancy (ICP) may increase the susceptibility of offspring to inflammation at an early stage by altering bile acid metabolism and gut microbiota. Supplementation with specific probiotics may improve intestinal immunity in ICP offspring.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Inbar Lifshitz, Geffen Kleinstern, Ori Rottenstreich, Shay Porat, Joshua Rosenbloom, Doron Kabiri, Moshe Rottenstreich, Yosef Ezra, Oren Shibolet, Rifaat Safadi, Amihai Rottenstreich
Summary: The combination of laboratory values (TB, ALK, GGT, AST) was shown to reliably exclude the diagnosis of ICP, particularly useful in settings with limited access to BA levels testing.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2021)
Review
Obstetrics & Gynecology
Antonio F. Saad, Luis D. Pacheco, Lucy Chappell, George R. Saade
Summary: ICP is associated with poor perinatal outcomes in some women, but recent evidence shows that UDCA may not have a significant impact on most perinatal outcomes, therefore a comprehensive approach is needed to manage ICP effectively.
REPRODUCTIVE SCIENCES
(2022)
Article
Infectious Diseases
Zenya Saito, Yugo Kaneko, Akira Kinoshita, Yusuke Kurita, Kyuto Odashima, Tsugumi Horikiri, Yutaka Yoshii, Aya Seki, Yoshitaka Seki, Hiroshi Takeda, Kazuyoshi Kuwano
BMC INFECTIOUS DISEASES
(2016)
Article
Oncology
Noboru Yamamoto, Hiroshi Nokihara, Yasuhide Yamada, Takashi Shibata, Yosuke Tamura, Yoshitaka Seki, Kazunori Honda, Yuko Tanabe, Hiroshi Wakui, Tomohide Tamura
INVESTIGATIONAL NEW DRUGS
(2017)
Meeting Abstract
Gastroenterology & Hepatology
Yoshiko Nakayama, Manari Oikawa-Kawamoto, Fumihiko Kakuta, Hirotaka Shimizu, Yousuke Shima, Shin-ichi Fujiwara, Tomoki Aomatsu, Koji Yokoyama, Eitaro Hiejima, Maiko Tatsuki, Mikihiro Inoue, Takahiro Kudo, Yoshitaka Seki, Masato Shinkai, Hisayuki Tsukahara, Hiroyuki Yamada, Takeshi Kimura, Toru Fujii
GASTROINTESTINAL ENDOSCOPY
(2017)
Article
Gastroenterology & Hepatology
Keiichi Uchida, Atsushi Nakajima, Kosuke Ushijima, Shinobu Ida, Yoshitaka Seki, Fumihiko Kakuta, Daiki Abukawa, Hisayuki Tsukahara, Shun-ichi Maisawa, Mikihiro Inoue, Toshimitsu Araki, Junji Umeno, Takayuki Matsumoto, Tomoaki Taguchi
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2017)
Article
Pediatrics
Naoki Hashizume, Minoru Yagi, Kosuke Ushijima, Yoshitaka Seki, Suguru Fukahori, Mitsuru Muto, Hiroshi Matsufuji, Tomoaki Taguchi
PEDIATRICS INTERNATIONAL
(2017)
Article
Infectious Diseases
Naoaki Watanabe, Keisuke Saito, Ayu Kiritani, Shota Fujimoto, Yumie Yamanaka, Ikumi Fujisaki, Chiaki Hosoda, Hanae Miyagawa, Yoshitaka Seki, Akira Kinoshita, Hiroshi Takeda, Yasuhiko Endo, Kazuyoshi Kuwano
JOURNAL OF INFECTION AND CHEMOTHERAPY
(2020)
Meeting Abstract
Oncology
Yoshitaka Seki, Taisuke Kazuyori, Shota Fujimoto, Akihito Sato, Masami Yamada, Yumie Yamanaka, Kyuto Odashima, Ikumi Fujisaki, Aya Seki, Takeo Ishikawa, Naoko Morita, Kazuyoshi Kuwano
ANNALS OF ONCOLOGY
(2019)
Meeting Abstract
Oncology
Taisuke Kazuyori, Yoshitaka Seki, Akihito Satou, Syouta Fujimoto, Masami Yamada, Yumie Yamanaka, Ikumi Fujisaki, Kyuuto Odashima, Aya Seki, Takeo Ishikawa, Kazuyoshi Kuwano
ANNALS OF ONCOLOGY
(2019)
Article
Infectious Diseases
Shota Fujimoto, Keisuke Saito, Sachi Matsubayashi, Akihito Sato, Masami Yamada, Yumie Yamanaka, Ikumi Fujisaki, Kyuto Odashima, Aya Seki, Taisuke Kazuyori, Yoshitaka Seki, Hiroshi Takeda, Takeo Ishikawa, Takuya Inagaki, Syuji Sato, Kazuyoshi Kuwano
Summary: This study evaluated the usefulness of thoracoscopy under local anesthesia in elderly patients for diagnosing tuberculous pleurisy in Japan. Through retrospective investigation, it was found that this method provided valuable diagnostic information and was also beneficial for tuberculosis treatment in elderly patients.
JOURNAL OF INFECTION AND CHEMOTHERAPY
(2021)
Article
Respiratory System
Yudai Suzuki, Naoki Takasaka, Sachi Matsubayashi, Ayako Kojima, Kyota Shinfuku, Tsukasa Hasegawa, Masami Yamada, Ikumi Fujisaki, Aya Seki, Yoshitaka Seki, Takeo Ishikawa, Kazuyoshi Kuwano
Summary: A case of ABPA occurred in a man treated with adalimumab for AS, showing improvement after withdrawal of adalimumab treatment. This suggests a possible causal relationship between anti-TNF-alpha antibodies and ABPA.
RESPIROLOGY CASE REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Naoki Takasaka, Yusuke Hosaka, Taiki Fukuda, Kyota Shinfuku, Kentaro Chida, Shun Shibata, Ayako Kojima, Tsukasa Hasegawa, Masami Yamada, Yumie Yamanaka, Aya Seki, Yoshitaka Seki, Takeo Ishikawa, Kazuyoshi Kuwano
Summary: This study found that emphysema is associated with an increased risk of chronic pulmonary aspergillosis development and mortality in patients with Mycobacterium avium complex pulmonary disease.
RESPIRATORY MEDICINE
(2022)
Article
Respiratory System
Naoki Takasaka, Yoshitaka Seki, Ikumi Fujisaki, Shota Uchiyama, Sachi Matsubayashi, Akihito Sato, Yumie Yamanaka, Kyuto Odashima, Taisuke Kazuyori, Aya Seki, Hiroshi Takeda, Takeo Ishikawa, Kazuyoshi Kuwano
BMC PULMONARY MEDICINE
(2020)
Article
Medicine, General & Internal
Chiaki Hosoda, Keisuke Saito, Shota Fujimoto, Yumie Yamanaka, Naoaki Watanabe, Hanac Miyagawa, Yusuke Kurita, Yoshitaka Seki, Akira Kinoshita, Yasuhiko Endo, Kazuyoshi Kuwano
CLINICAL CASE REPORTS
(2019)
Article
Oncology
Yoshitaka Seki, Yutaka Fujiwara, Takashi Kohno, Kazushi Yoshida, Yasushi Goto, Hidehito Horinouchi, Shintaro Kanda, Hiroshi Nokihara, Noboru Yamamoto, Kazuyoshi Kuwano, Yuichiro Ohe
Article
Medicine, General & Internal
Yumie Yamanaka, Yoshitaka Seki, Takeo Ishikawa, Kazuyoshi Kuwano
Article
Medical Laboratory Technology
Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng
Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Lihua Guan, Wei Su, Jian Zhong, Ling Qiu
Summary: Multiple myeloma is characterized by excessive production of monoclonal immunoglobulins. Routine screening methods are insufficient for detecting low levels of M proteins, but advances in mass spectrometry enable reliable detection of low abundance serum biomarkers for minimal residual disease assessment in multiple myeloma.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Liya Zhu, Chao Zhu, Jialie Jin, Jinxin Wang, Xiaojing Zhao, Rongxi Yang
Summary: This study found an association between blood-based ITGB2 methylation and coronary heart disease (CHD), with hypomethylation of ITGB2 being a risk factor for CHD. Additionally, the combination of ITGB2 methylation and conventional CHD risk factors could efficiently discriminate CHD patients from controls.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
H. Al Habobe, E. B. Haverkort, K. Nazmi, A. P. Van Splunter, R. H. H. Pieters, F. J. Bikker
Summary: Saliva diagnostics have become popular due to their non-invasive nature and patient-friendly collection process. However, the choice of saliva collection method can affect the measured levels of various biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Abdurrahman Coskun, Anna Carobene, Ozlem Demirelce, Michele Mussap, Federica Braga, Ebru Sezer, Aasne Karine Aarsand, Sverre Sandberg, Pilar Fernandez Calle, Jorge Diaz-Garzon, Metincan Erkaya, Cihan Coskun, Esila Nur Erol, Hunkar Dag, Bill Bartlett, Mustafa Serteser, Niels Jonker, Ibrahim Unsal
Summary: In this study, BV estimates for 22 AAs were provided based on a large sample size, and it was found that there are differences in CVI estimates between males and females for most AAs, which has implications for the clinical interpretation and use of AAs.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Matthew Justyn
Summary: The study of Parkinson's Disease in Asian populations has revealed the impact of genetic variants on multiple biological pathways and highlighted shared genetic susceptibility with other diseases. These findings emphasize the importance of personalized treatment based on individual genetic profiles.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Simona Ferraro, Sara Benedetti, Savina Mannarino, Santica Marcovina, Elia Mario Biganzoli, Gianvincenzo Zuccotti
Summary: Risk stratification for cardio-vascular disease should be implemented in childhood to promote early prevention strategies, as atherosclerotic lesions can be present even in very young individuals. Evaluating pediatric CV risk factors/clinical conditions and conducting lipid profile and genetic testing can help identify children at risk of future CV events and guide appropriate therapeutic options.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Ahmad Mobed, Bita Abdi, Sajjad Masoumi, Mohammad Mikaeili, Elham Shaterian, Hamed Shaterian, Esmat Sadat Kazemi, Mahdiye Shirafkan
Summary: Reproductive biomarkers play important regulatory roles in women. The discovery and quantification of these biomarkers are clinically significant. Various detection strategies, including nanotechnology-based methods, have been developed. This article provides an in-depth introduction to the latest advances in biosensor and nanosensor research for detecting and quantitatively identifying reproductive biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Huang
Summary: This study proposes an effective method for screening X-ALD and evaluates the performance of newborn screening for X-ALD in Guangzhou. The LC-MS/MS method can accurately identify X-ALD through analysis of C26:0-LPC.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Lan Liu, Jiamin Wang, Xijing Liu, Jing Wang, Lin Chen, Hongmei Zhu, Jingqun Mai, Ting Hu, Shanling Liu
Summary: The 16p11.2 deletion is a common genetic cause of neurodevelopmental disorders, with prenatal and postnatal presentations including vertebral malformations and language impairment. The majority of deletions are de novo and may be associated with MAPK3 and histidine-associated metabolism.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Sneha Venkatesalu, Shanmugapriya Dilliyappan, Avanthika Satish Kumar, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Asha Sivaji
Summary: Microfluidics is a science and technology that deals with less sample-to-more precision in vitro analysis. It has wide applications in cancer theranostics, enabling precise diagnosis and personalized treatment.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Yuanqin Zhao, Wei Deng, Zhaoyue Wang, Yanxia Wang, Hongyu Zheng, Kun Zhou, Qian Xu, Le Bai, Huiting Liu, Zhong Ren, Zhisheng Jiang
Summary: The cardiovascular system and the central nervous system exhibit a coordinated developmental process during embryonic development. Congenital heart disease (CHD) is the most common congenital disorder, and neurodevelopmental disorders (NDD) are common complications in CHD patients. Both genetic and non-genetic factors contribute to the co-occurrence of CHD and NDD. Further research should focus on identifying common molecular mechanisms underlying this co-occurrence and promoting the research and treatment of developmental disorders related to the cardiovascular and central nervous systems.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Karol Gostomczyk, Ewelina Lukaszewska, Jedrzej Borowczak, Anita Bator, Marek Zdrenka, Magdalena Bodnar, Lukasz Szylberg
Summary: Flow cytometry improves the detection of epithelial cancer cells in peritoneal and pleural fluids compared to conventional cytology. Due to similar speciflcity and higher sensitivity, flow cytometry offers a promising alternative to cytology for patient screening.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Heping Tian, Genghuan Wang, Qi Zhong, Haihang Zhou
Summary: This study found that the decline of serum ITIH4 concentrations during the early phase after aneurysmal subarachnoid hemorrhage (aSAH) was closely related to the severity and poor prognosis of the disease. Serum ITIH4 may represent a promising prognostic biomarker of aSAH.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Xueting Zhu, Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo, Lu Zheng
Summary: This study successfully established a 2D-PCR method for identifying HLA-B*15:02 through a two-tube reaction. This method can distinguish HLA-B*15:02 from 16 highly homologous HLA-B*15 alleles. Among 1830 samples from the clinical general population, 3 HLA-B*15:02 homozygotes and 84 HLA-B*15:02 heterozygotes were detected.
CLINICA CHIMICA ACTA
(2024)