Article
Endocrinology & Metabolism
Ya Wang, Li Lu, Yajing Niu, Qiongdan Zhang, Chen Cheng, Han Huang, Xinyao Huang, Qingyang Huang
Summary: The study identified four enhancer SNPs as potential causal SNPs for osteoporosis, including rs9820407 which showed the strongest enhancer activity and could modulate CTNNB1 gene expression. The research provided insight into how the noncoding enhancer SNP rs9820407 distally regulates CTNNB1 expression and modulates osteoporosis risk.
Article
Endocrinology & Metabolism
Maya E. Lee, Yashira M. Ortega-Sustache, Sunita K. Agarwal, Aisha Tepede, James Welch, Adel Mandl, Rashika Bansal, Amit Tirosh, Paolo Piaggi, Craig Cochran, William F. Simonds, Lee S. Weinstein, Jenny E. Blau
Summary: MEN1 patients have an increased risk of venous thromboembolism (VTE), with a prevalence rate of 12.9% and an age-sex adjusted incidence rate of 9.11 per 1000 patient-years. The majority of patients who had a VTE were diagnosed with pancreatic NETs. Further studies are needed to confirm the increased prevalence of VTE in MEN1.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Cardiac & Cardiovascular Systems
Lili Wu, Meimei Wu, Xuelian Zhang, Shuohua Chen, Guodong Wang, Shouling Wu, Jinqiang Zhuang, Jiang Hong
Summary: This study aimed to analyze the impact of arterial stiffness (AS) on heart failure (HF) in a community-based diabetic population. The results showed that AS was associated with an increased risk of HF in diabetic patients, and there was a dose-response relationship between AS and HF risk.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Pharmacology & Pharmacy
He-Ping Lei, Min Qin, Li-Yun Cai, Hong Wu, Lan Tang, Ju-E Liu, Chun-Yu Deng, Yi-Bin Liu, Qian Zhu, Han-Ping Li, Wei Hu, Min Yang, Yi-Zhun Zhu, Shi-Long Zhong
Summary: The study identified that the UGT1A1 rs4148323 A allele is associated with increased formation of 2-hydroxy ATV in Chinese patients with coronary artery disease (CAD), and also serves as a significant risk factor for death.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Endocrinology & Metabolism
Yi Song, Ying Zhao, Xiangli Bai, Wenzhuo Cheng, Li Wang, Meng Shu, Yan Shu, Liyin Zhang, Si Jin
Summary: Remnant cholesterol (RC) is closely related to the risk of atherosclerosis. Elevated RC levels are associated with a higher risk of peripheral arterial disease (PAD) in the general population. However, the association between RC and PAD in patients with type 2 diabetes mellitus (T2DM) has not been studied. This study investigated the correlation between RC and PAD in T2DM patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Rosanna Villani, Grazia Pia Magnati, Giuseppe De Girolamo, Moris Sangineto, Antonino Davide Romano, Tommaso Cassano, Gaetano Serviddio
Summary: The study reveals the potential role of genetic polymorphisms in the development of clinical phenotypes in patients with non-alcoholic fatty liver disease (NAFLD) and diabetes, particularly in identifying patients at higher risk.
FRONTIERS IN MEDICINE
(2021)
Article
Endocrinology & Metabolism
Anastasios Mangelis, Piyumi Wijewickrama, Abbeyramei Nirmalakumaran, Nikolaos Fountoulakis, Prashanth Vas, Laura Webster, Samantha Mann, Julian Collins, David Hopkins, Stephen Thomas, Salma Ayis, Janaka Karalliedde
Summary: This study aimed to investigate the effect of ethnicity on the development of referable sight-threatening diabetic retinopathy (STDR) in people with type 1 diabetes. The study found that people of African Caribbean ethnicity are more prone to developing STDR, and higher baseline HbA1c, raised SBP, and longer diabetes duration are also independent risk factors for STDR.
Article
Rheumatology
Sarah Reid, Niklas Hagberg, Johanna K. Sandling, Andrei Alexsson, Pascal Pucholt, Christopher Sjowall, Karoline Lerang, Andreas Jonsen, Iva Gunnarsson, Ann-Christine Syvanen, Anne Margrethe Troldborg, Anne Voss, Anders A. Bengtsson, Oyvind Molberg, Soren Jacobsen, Elisabet Svenungsson, Lars Ronnblom, Dag Leonard
Summary: Smoking in the presence of the STAT4 risk gene variant appears to increase the risk of myocardial infarction and nephritis in SLE patients. The IL12-STAT4 pathway also plays a role in SLE-cardiovascular morbidity.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Medicine, General & Internal
Dor Genzel, Lior H. Katz, Rifaat Safadi, Aliza Rozenberg, Yael Milgrom, Jeremy M. Jacobs, Asher Shafrir
Summary: Low ALT level prior to infection is a significant risk factor for morbidity and mortality from COVID-19 infection.
FRONTIERS IN MEDICINE
(2023)
Article
Endocrinology & Metabolism
Christopher Rohde, Nanna Brix Finnerup, Norbert Schmitz, Troels Staehelin Jensen, Reimar Wernich Thomsen, Soren Dinesen Ostergaard
Summary: This study found that individuals with diabetic neuropathy have a significantly higher risk of developing mental disorders compared to diabetes-duration-matched individuals without diabetic neuropathy.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Oncology
B. Silva-Ramirez, E. J. Macias-Gonzalez, O. S. Frausto-Valdes, M. B. Calao-Perez, D. I. Ibarra-Perez, J. E. Torres-Garcia, A. R. Aragon-Tovar, K. Penuelas-Urquides, L. A. Gonzalez-Escalante, M. Bermudez de Leon
Summary: This study aimed to analyze the genetic basis of prostate cancer susceptibility in Mexican men by studying SNPs at the 8q24 locus. The results showed that variants rs16901979, rs1447295, and 7837328 were associated with prostate cancer susceptibility in Mexican men.
PROSTATE CANCER AND PROSTATIC DISEASES
(2022)
Article
Oncology
Karmele Saez de Gordoa, Maria Teresa Rodrigo-Calvo, Ivan Archilla, Sandra Lopez-Prades, Alba Diaz, Jordi Tarragona, Isidro Machado, Juan Ruiz Martin, Diana Zaffalon, Maria Daca-Alvarez, Maria Pellise, Jordi Camps, Miriam Cuatrecasas
Summary: This study evaluated the application of a lymph node (LN) staging method in the treatment of early-stage colorectal carcinoma (CRC). The OSNA method was found to be a reliable technique for assessing LN status, helping to identify patients at risk of recurrence and optimize their treatment management.
Article
Oncology
Paola Guglielmelli, Giuseppe G. Loscocco, Carmela Mannarelli, Elena Rossi, Francesco Mannelli, Francesco Ramundo, Giacomo Coltro, Silvia Betti, Chiara Maccari, Sara Ceglie, Patrizia Chiusolo, Chiara Paoli, Tiziano Barbui, Ayalew Tefferi, Valerio De Stefano, Alessandro M. Vannucchi
Summary: The study analyzed the impact of JAK2V617F VAF on thrombosis in PV patients, finding that VAF > 50% is an independent strong predictor of future VT, but not associated with AT. The results suggest that AT and VT may require distinct management strategies.
BLOOD CANCER JOURNAL
(2021)
Article
Immunology
Christina-Maria Flessa, Evangelia Zampeli, Maria-Eleftheria Evangelopoulos, Vasilis Natsis, Iris L. A. Bodewes, Erika Huijser, Marjan A. Versnel, Haralampos M. Moutsopoulos, Clio P. Mavragani
Summary: This study found that the TT genotype of the rs9514828 SNP in the BAFF gene reduces the likelihood of fatigue development in primary Sjogren's Syndrome patients. Further research is needed to validate these findings.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Onur B. B. Dolmaci, Sulayman El Mathari, Antoine H. G. Driessen, Robert J. M. Klautz, Robert E. E. Poelmann, Jan H. N. Lindeman, Nimrat Grewal
Summary: This study aimed to test whether thoracic aortic aneurysms are also associated with an increased cardiovascular risk burden. The results showed a higher prevalence of hypertension and a lower prevalence of diabetes in patients with thoracic aneurysms compared to the general population. Therefore, unlike abdominal aortic aneurysms, thoracic aneurysms do not need cardiovascular risk management in treatment guidelines, but hypertension should be treated.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Shohei Kojima, Kohei Yoshikawa, Jumpei Ito, So Nakagawa, Nicholas F. Parrish, Masayuki Horie, Shuichi Kawano, Keizo Tomonaga
Summary: Understanding the genetics and taxonomy of ancient viruses can provide insights into the origin and evolution of viruses, as well as their impact on human evolution. By using machine learning to identify endogenous RNA virus sequences in the human genome, researchers have discovered evidence of ancient viral infections, revealing the diversity of the ancient virosphere that still exists within animal genomes.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Shotaro Sakimura, Satoshi Nagayama, Mitsuko Fukunaga, Qingjiang Hu, Akihiro Kitagawa, Yuta Kobayashi, Takanori Hasegawa, Miwa Noda, Yuta Kouyama, Dai Shimizu, Tomoko Saito, Atsushi Niida, Yusuke Tsuruda, Hajime Otsu, Yoshihiro Matsumoto, Hiroki Uchida, Takaaki Masuda, Keishi Sugimachi, Shin Sasaki, Kazutaka Yamada, Kazuki Takahashi, Hideki Innan, Yutaka Suzuki, Hiromi Nakamura, Yasushi Totoki, Shinichi Mizuno, Masanobu Ohshima, Tatsuhiro Shibata, Koshi Mimori
Summary: This study revealed the significant role of copy number aberrations in cancer evolution, as well as the importance of neoantigens and diverse T cell receptor repertoire in postoperative recurrence. The comparison of driver mutations and immune response-related molecules between early and metastatic sites showed differences, and the postoperative recurrence was associated with neoantigen levels and TCR diversity in the metastatic sites.
Article
Oncology
Atsushi Fujii, Takaaki Masuda, Michio Iwata, Taro Tobo, Hiroaki Wakiyama, Kensuke Koike, Keisuke Kosai, Takafumi Nakano, Shotaro Kuramitsu, Akihiro Kitagawa, Kuniaki Sato, Yuta Kouyama, Dai Shimizu, Yoshihiro Matsumoto, Tohru Utsunomiya, Takao Ohtsuka, Yoshihiro Yamanishi, Masafumi Nakamura, Koshi Mimori
Summary: The study identified ASAP2 as a novel driver gene in PDAC, with high expression contributing to a poor prognosis and promoting tumor growth by facilitating cell cycle progression. Niclosamide, repositioned as a drug targeting the ASAP2 pathway, suppresses PDAC growth by inhibiting ASAP2 expression.
Article
Statistics & Probability
Shuichi Kawano
Summary: Principal component regression (PCR) is a two-stage procedure involving principal component analysis (PCA) and regression modeling. To address the issue of principal components lacking information about the response variable, a one-stage PCR procedure based on singular value decomposition with sparse regularization is proposed. The method allows for obtaining principal component loadings that include information from both explanatory variables and the response variable, and an estimation algorithm using the alternating direction method of multipliers is developed to demonstrate its effectiveness through numerical studies.
ADVANCES IN DATA ANALYSIS AND CLASSIFICATION
(2021)
Article
Oncology
Hidenari Hirata, Atsushi Niida, Nobuyuki Kakiuchi, Ryutaro Uchi, Keishi Sugimachi, Takaaki Masuda, Tomoko Saito, Shun-Ichiro Kageyama, Yushi Motomura, Shuhei Ito, Tadamasa Yoshitake, Daisuke Tsurumaru, Yusuke Nishimuta, Akira Yokoyama, Takanori Hasegawa, Kenichi Chiba, Yuichi Shiraishi, Junyan Du, Fumihito Miura, Masaru Morita, Yasushi Toh, Masakazu Hirakawa, Yoshiyuki Shioyama, Takashi Ito, Tetsuo Akimoto, Satoru Miyano, Tatsuhiro Shibata, Masaki Mori, Yutaka Suzuki, Seishi Ogawa, Kousei Ishigami, Koshi Mimori
Summary: A study sequencing 52 tumor samples from 33 ESCC patients who received radiotherapy combined with 5-fluorouracil/platinum revealed the impact of chemoradiotherapy on clonal evolution, with MYC gain potentially serving as a marker for therapy resistance. The findings enhance understanding of therapeutic resistance and support the rationale for precision chemoradiotherapy.
Article
Oncology
Kuniko Sunami, Hideaki Bando, Yasushi Yatabe, Yoichi Naito, Hideaki Takahashi, Katsuya Tsuchihara, Shinichi Toyooka, Koshi Mimori, Shinji Kohsaka, Hiroyuki Uetake, Ichiro Kinoshita, Keigo Komine, Masayuki Takeda, Tetsu Hayashida, Kenji Tamura, Kazuto Nishio, Noboru Yamamoto
Summary: Comprehensive genomic profiling (CGP) is increasingly used in Japan for the clinical management of solid cancers, with some restrictions such as patient eligibility and opportunities for testing. The implementation of CGP based on plasma circulating tumor DNA (ctDNA) may raise issues regarding the selection and use of tissue DNA and ctDNA CGP.
Article
Gastroenterology & Hepatology
Hajime Otsu, Sho Nambara, Qingjiang Hu, Yuichi Hisamatsu, Takeo Toshima, Kazuki Takeishi, Yusuke Yonemura, Takaaki Masuda, Eiji Oki, Koshi Mimori
Summary: The study aimed to identify individuals at high risk of gastric cancer by detecting microRNAs (miRNA) in the blood as biomarkers. Specific miRNA combinations may serve as promising biomarkers for precancerous lesions in gastric cancer.
ANNALS OF GASTROENTEROLOGICAL SURGERY
(2023)
Article
Physics, Multidisciplinary
Akira Okazaki, Shuichi Kawano
Summary: Multi-task learning aims to improve estimation and prediction performances by sharing information among tasks, but existing methods cannot be directly applied to compositional data. This paper proposes a multi-task learning method for compositional data using sparse network lasso, which extracts latent clusters and relevant variables by considering relationships among samples.
Article
Multidisciplinary Sciences
Satoshi Nagayama, Yuta Kobayashi, Mitsuko Fukunaga, Shotaro Sakimura, Keishi Sugimachi, Shin Sasaki, Takaaki Masuda, Ken-ichi Mafune, Masanobu Oshima, Tatsuhiro Shibata, Yutaka Suzuki, Koshi Mimori
Summary: The detection and sequencing of mutated ctDNA is essential in postoperative management of colorectal cancer (CRC). This study conducted target resequencing of ctDNA and found that mutated genes in ctDNA indicated immune-resistance traits due to the loss of neoantigen presentation in primary CRC tumors. Therefore, ctDNA mutations can be frequently detected postoperatively to identify recurrence, but they come from immune-tolerated clones.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
Yuki Ozato, Yasuhiro Kojima, Yuta Kobayashi, Yuuichi Hisamatsu, Takeo Toshima, Yusuke Yonemura, Takaaki Masuda, Kouichi Kagawa, Yasuhiro Goto, Mitsuaki Utou, Mituko Fukunaga, Ayako Gamachi, Kiyomi Imamura, Yuta Kuze, Junko Zenkoh, Ayako Suzuki, Atsushi Niida, Haruka Hirose, Shuto Hayashi, Jun Koseki, Eiji Oki, Satoshi Fukuchi, Kazunari Murakami, Taro Tobo, Satoshi Nagayama, Mamoru Uemura, Takeharu Sakamoto, Masanobu Oshima, Yuichiro Doki, Hidetoshi Eguchi, Masaki Mori, Takeshi Iwasaki, Yoshinao Oda, Tatsuhiro Shibata, Yutaka Suzuki, Teppei Shimamura, Koshi Mimori
Summary: The cellular interactions in the tumor microenvironment of colorectal cancer (CRC) remain poorly understood. This study investigates the importance of events occurring at the invasion front for CRC treatment strategies. The findings highlight the signaling between CRC cell populations and stromal cell populations, specifically at the invasion front.
Review
Gastroenterology & Hepatology
Masaaki Iwatsuki, Chihiro Matsumoto, Koshi Mimori, Hideo Baba
Summary: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare familial gastric cancer syndrome caused by a mutation in the APC gene. Treatment involves standard methods for gastric cancer, with prognosis depending on the presence of distant metastasis and the use of total gastrectomy. Prophylactic total gastrectomy is recommended in cases of dysplasia, but careful consideration of the patient's background is necessary. Currently, there are no guidelines for screening, timing of prophylactic total gastrectomy, or endoscopic surveillance for GAPPS.
ANNALS OF GASTROENTEROLOGICAL SURGERY
(2023)
Editorial Material
Gastroenterology & Hepatology
Koshi Mimori
ANNALS OF GASTROENTEROLOGICAL SURGERY
(2023)
Article
Computer Science, Artificial Intelligence
Kazuaki Murayama, Shuichi Kawano
Summary: This article discusses the regression problem with sparse Bayesian learning when the number of weights is larger than the data size. The author proposes a strategy consisting of applying an inverse gamma hyperprior to control sparsity and selecting an optimal scale parameter. Empirical evaluation shows that this strategy prevents overfitting and maintains good sparsity.
IEEE TRANSACTIONS ON NEURAL NETWORKS AND LEARNING SYSTEMS
(2023)
Article
Oncology
Hirofumi Ohmura, Taro Tobo, Koshi Mimori, Eishi Baba, Takahiko Horiuchi
Summary: We report a case of colon neuroendocrine carcinoma (NEC) that developed Trousseau's syndrome. The patient experienced disease progression after multiple lines of therapy and ultimately died due to worsening condition.
CASE REPORTS IN ONCOLOGY
(2023)
Article
Statistics & Probability
Yuko Kakikawa, Kaito Shimamura, Shuichi Kawano
Summary: Bayesian fused lasso is improved by using horseshoe prior on the difference of successive regression coefficients, preventing over-shrinkage. Additionally, a Bayesian nearly hexagonal operator is proposed for regression with shrinkage and equality selection, improving performance compared to existing methods in simulation and real data.
JAPANESE JOURNAL OF STATISTICS AND DATA SCIENCE
(2023)