Results 41 to 50 of about 2,618 (150)

Regional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report

Brazilian Journal of Anesthesiology, 2021
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal-recessive disorder which is due to mutations in TYMP. The case reported here is of an 18-year-old male with MNGIE syndrome who presented for two different operations on two
Tayfun Sugur, Hayri Fatih Metinyurt, Ali Sait Kavakli, Nilgun Kavrut Ozturk, Sadik Ozmen   +4 more
doaj   +1 more source

A predictive signature for oxaliplatin and 5-fluorouracil based chemotherapy in locally advanced gastric cancer

Translational Oncology, 2021
Adjuvant chemotherapy(AC) plays a substantial role in the treatment of locally advanced gastric cancer (LAGC), but the response remains poor. We aims to improve its efficacy in LAGC.
Qinchuan Wang, Xiyong Liu, Chen Chen, Jida Chen, Beisi Xu, Lini Chen, Jichun Zhou, Yasheng Huang, Wenjun Chen, Rongyue Teng, Wenhe Zhao, Lidan Jin, Jun Shen, Jianguo Shen, Yun Yen, Linbo Wang   +15 more
doaj   +1 more source

Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype

, 2018
The Mendelian inherited progressive external ophthalmoplegia (PEO) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) are genetically heterogeneous mitochondrial diseases caused by nuclear-mitochondrial intergenomic defects.
최병옥
core   +1 more source

Preclinical investigation of potential use of thymidine phosphorylase-targeting tracer for diagnosis of nonalcoholic steatohepatitis [PDF]

, 2020
Introduction: Although liver biopsy is the gold standard for the diagnosis of nonalcoholic steatohepatitis (NASH), it has several problems including high invasiveness and sampling errors.
Tarisawa, Makoto, Takeda, Hiroshi, Yasui, Hironobu, Horiguchi, Sawako, Ohkura, Kazue, Shibata, Yuki, Kuge, Yuji, Higashikawa, Kei   +7 more
core   +1 more source

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Molecular Therapy: Methods & Clinical Development, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-
Rana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, Marianna Bugiani, Joost C. Haeck, Marshall W. Huston, Elly Bogaerts, Steffi Goffart, Edwin H. Jacobs, Merel Stok, Lorena Leonardelli, Luca Biasco, Robert M. Verdijk, Monique R. Bernsen, George Ruijter, Ramon Martí, Gerard Wagemaker, Niek P. van Til, Irenaeus F.M. de Coo   +18 more
doaj   +1 more source

Proteome profiling identifies circulating biomarkers associated with hepatic steatosis in subjects with Prader-Willi syndrome

Frontiers in Endocrinology, 2023
IntroductionPrader-Willi syndrome (PWS) is a rare genetic disorder characterized by loss of expression of paternal chromosome 15q11.2-q13 genes. Individuals with PWS exhibit unique physical, endocrine, and metabolic traits associated with severe obesity.
Devis Pascut, Pablo J. Giraudi, Cristina Banfi, Stefania Ghilardi, Claudio Tiribelli, Claudio Tiribelli, Adele Bondesan, Diana Caroli, Alessandro Minocci, Graziano Grugni, Graziano Grugni, Alessandro Sartorio   +11 more
doaj   +1 more source

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Validation of a novel bioassay method for the evaluation of the activity of slow‐acting insecticides on tomato borer Phthorimaea absoluta

Pest Management Science, EarlyView.
Extended bioassays revealed that azadirachtin and spirotetramat show strong delayed effects against Phthorimaea absoluta, underestimated by the standard Insecticide Resistance Action Committee (IRAC) method 022 protocol. Incorporating long‐term exposures is essential to accurately assess slow‐acting insecticides and improve resistance management ...
Marianna Stavrakaki, Kyriaki Mylona, Dimitris Piperidis, George Afantenos, Katerina Kremi, Konstantina Alipranti, Konstantinos B. Simoglou, Emmanouil Roditakis   +7 more
wiley   +1 more source

Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. [PDF]

PLoS ONE, 2013
The potential clinical utility of genetic markers associated with response to fluoropyrimidine treatment in colorectal cancer patients remains controversial despite extensive study.
Barbara A Jennings, Yoon K Loke, Jane Skinner, Melanie Keane, Gavin S Chu, Richard Turner, Daniel Epurescu, Ann Barrett, Gavin Willis   +8 more
doaj   +1 more source

Angiogenesis‐associated immune genes as prognostic markers and predictors of immunotherapy response in pancreatic ductal adenocarcinoma

VIEW, EarlyView.
Pancreatic ductal adenocarcinoma exhibits marked angiogenic and immune heterogeneity. We identified 28 angiogenesis‐associated immune genes and developed a seven‐gene AIGScore model comprising FGF2, ADGRB3, MMP2, TYMP, VASH1, VEGFD, and ITGAV. A high AIGScore was associated with poor survival, an immunosuppressive tumor microenvironment, and reduced ...
Qing Chang, Qian Wang, Xiumei Jiang, Yongmei Yang, Ailin Qu   +4 more
wiley   +1 more source