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Abstract Introduction The genetic factors and molecular mechanisms predisposing to essential tremor (ET) remains largely unknown. Objective The objective of this study was to identify pathways and genes relevant to ET by integrating multiomics approaches. Methods Case‐control RNA sequencing of 2 cerebellar regions was done for 64 samples. A phenome‐wide association study (pheWAS) of the differentially expressed genes was conducted, and a genome‐wide gene association study...
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Abstract Acute graft-versus-host disease (aGVHD) of the lower gastrointestinal (GI) tract is the major cause of non-relapse mortality (NRM) in allogeneic hematopoietic stem cell transplantation (alloHSCT). This study aimed to identify variables associated with corticosteroid response and NRM in patients who developed lower GI aGVHD. We retrospectively analyzed the clinical data of patients treated at Yonsei University Severance Hospital between 2008 and 2017. Among 244 recipients...
Abstract Separase, a cysteine endopeptidase, is a key player in mitotic sister chromatid separation, replication fork dynamics, and DNA repair. Aberrant expression and/or altered separase proteolytic activity are associated with aneuploidy, tumorigenesis, and disease progression. Since genomic instability and clonal evolution are hallmarks of progressing chronic myeloid leukemia (CML), we have comparatively examined separase proteolytic activity in TKI-treated chronic phase CML....
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Abstract The primate brain contains a large number of interconnected visual areas, whose spatial organization and intracortical projections show a high level of conservation across species. One fiber pathway of recent interest is the vertical occipital fasciculus (VOF), which is thought to support communication between dorsal and ventral visual areas in the occipital lobe. A recent comparative diffusion MRI (dMRI) study reported that the VOF in the macaque brain bears a similar...
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Introduction: Human epidermal growth factor receptor 2 (HER-2) targeted therapy regimens can improve tumor response in HER-2-positive metastatic breast cancer (MBC), with overall survival benefits. Objective: We evaluated the efficacy of dual HER-2 blockade combined with chemotherapy for HER-2-positive MBC patients as a first-line therapy in our patient population. Patients and Methods: We identified 75 patients at King Faisal Specialist Hospital and Research Center that received trastuzumab, pertuzumab,...
Background: Protroca evaluated the efficacy and safety of primary and secondary prophylaxis of neutropenia with lipegfilgrastim (Lonquex®) in breast cancer patients receiving neoadjuvant or adjuvant chemotherapy (CT). Patients and Methods: Of the 255 patients enrolled, 248 patients were evaluable for the intent-to-treat (ITT) and 194 patients for the per-protocol set. Primary and secondary end points after lipegfilgrastim treatment were assessed. Results: Nine patients of the ITT set receiving lipegfilgrastim...
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Abstract Whereas numerous studies have investigated the relationship of cardiorespiratory fitness with inhibition and neuroelectric activity, the role of other physical fitness components and physical activity (PA) intensities in this relationship remain unclear, especially in children with obesity. Therefore, the purpose of this study was to investigate the association of physical fitness, PA, and sedentary time with inhibitory control and neuroelectric activity in children. Eighty‐four children...
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Abstract The number of Mendelian randomization (MR) analyses including large numbers of genetic variants is rapidly increasing. This is due to the proliferation of genome‐wide association studies, and the desire to obtain more precise estimates of causal effects. Since it is unlikely that all genetic variants will be valid instrumental variables, several robust methods have been proposed. We compare nine robust methods for MR based on summary data that can be implemented using standard statistical...
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Cosmetics, Vol. 7, Pages 23: Effects of Chewing Training on Orofacial and Cognitive Function in Healthy Individuals: A Systematic Review Cosmetics doi: 10.3390/cosmetics7020023 Authors: Ricardo B. Viana Wellington F. da Silva Claudio A.B. de Lira Background: There is some evidence showing significant correlations between acute chewing gum and orofacial function, and between acute chewing gum and cognitive function; however, as far as we are aware, little is known about the...
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Photochem. Photobiol. Sci., 2020, Advance ArticleDOI: 10.1039/D0PP90010A, Retraction Open Access This article is licensed under a Creative Commons Attribution 3.0 Unported Licence.Andrew ShoreTo cite this article before page numbers are assigned, use the DOI form of citation above.The content of this RSS Feed (c) The Royal Society of Chemistry
Photochem. Photobiol. Sci., 2020, Accepted ManuscriptDOI: 10.1039/C9PP00481E, PaperAndrzej Czesław Żądło, S. Ito, Michal Sarna, Kazumasa Wakamatsu, Krystian Mokrzynski, Tadeusz J SarnaWhen aging, melanin in human retinal pigment epithelium (RPE) undergoes oxidative modifications, which increase its photoreactivity and reduce antioxidant capacity, elevating the risk of chronic phototoxicity to the retina. The...The content of this RSS Feed (c) The Royal Society of Chemistry
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Related ArticlesThe role of bile reflux and its related NF-κB activated pathway in progression of hypopharyngeal squamous cell cancer. Oral Oncol. 2020 Apr 02;105:104668 Authors: Sasaki CT, Hajek M, Doukas SG, Vageli DP Abstract BACKGROUND: Prognosis for hypopharyngeal cancer is usually poor, and recurrence is common. Identifying new factors or related mechanisms that promote its progression may have clinical implications. Although, recent studies support...
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Publication date: Available online 5 April 2020Source: International Journal of Pediatric OtorhinolaryngologyAuthor(s): Carla Isabelly Rodrigues-Fernandes, Maria Eduarda Pérez-de-Oliveira, Lady Paola Aristizabal Arboleda, Felipe Paiva Fonseca, Márcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos-Silva
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Abstract Streptococcus is closely correspondent to human. The accurate species-specific identification method of Streptococcus is important for the bacteria clinical diagnosis, molecular epidemiological analysis, and microecological study. In the last decades, DNA markers are widely utilized for identification of prokaryotic species. However, 16S rDNA, the most popular bacterial DNA marker, cannot properly distinguish closely related Streptococcus species. In present study, we...
Abstract Although Chlamydia infects host body regions that are hypoxic to anoxic, standard Chlamydiae culture conditions are in CO2 enriched (5%) atmospheric oxygen (21%). Because of its success in causing disease in principally anaerobic body sites, e.g., vaginal tract, we hypothesize that Chlamydia has an anaerobic life cycle that plays a role in its maintenance in the host. Using a model system developed for the anaerobic culture of mammalian cells, we assessed the anoxic infectious...
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Related ArticlesEfficacy of a Physical Activity Counselling Program with Use of Wearable Tracker in People with Inflammatory Arthritis: A Randomized Controlled Trial. Arthritis Care Res (Hoboken). 2020 Apr 05;: Authors: Li LC, Feehan LM, Xie H, Lu N, Shaw C, Gromala D, Aviña-Zubieta JA, Koehn C, Hoens AM, English K, Tam J, Therrien S, Townsend AF, Noonan G, Backman CL Abstract OBJECTIVES: To assess the efficacy of a multi-faceted counselling intervention...
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Related ArticlesClinical relevance of endoscopy with histopathological assessment in children with suspected gastrointestinal graft-versus-host disease. Clin Transplant. 2020 Apr 05;: Authors: Mårtensson T, Mellgren K, Toporski J, Arvidson J, Szakos A, Casswall TH, Gustafsson B Abstract Endoscopy with histopathological assessment is an established practice to confirm gastrointestinal graft-versus-host disease (GI-GVHD). However, the clinical relevance...
Related ArticlesCRISPR as a tool in tumor therapy: A short review. Biotechnol Appl Biochem. 2020 Apr 05;: Authors: Tan J, Yu W Abstract Tumors remain a health concern worldwide, and gene therapy is a useful approach for treating tumors. The CRSPR system, an efficient and robust gene editing system originating from bacteria, serves as an important tool in gene therapy. In this review, we briefly summarized the usage of CRISPR (including in gene knockout...
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Related ArticlesDocumentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database. Hum Mutat. 2020 Apr 05;: Authors: Kounelis F, Kanterakis A, Kanavos A, Pandi MT, Kordou Z, Manusama O, Vonitsanos G, Katsila T, Tsermpini EE, Lauschke VM, Koromina M, van der Spek PJ, Patrinos GP Abstract FINDbase (http://www.findbase.org) is a comprehensive data resource recording the prevalence of clinically...
Related ArticlesAutosomal Dominant Hyper IgE Syndrome from a single center in Chongqing, China (2009-2018). Scand J Immunol. 2020 Apr 05;:e12885 Authors: Xiang Q, Zhang L, Liu X, Wang S, Wang T, Xiao M, Zhao X, Jiang L Abstract Autosomal dominant hyper IgE syndrome (AD-HIES) caused by STAT3 gene mutation is a rare primary immunodeficiency disease. To better understand the disease, we described the clinical characteristics of 20 AD-HIES patients in Chongqing,...
Related ArticlesUnraveling the menace: detection of antimicrobial resistance in aquaculture. Lett Appl Microbiol. 2020 Apr 05;: Authors: Preena PG, Swaminathan TR, Rejish Kumar VJ, Bright Singh IS Abstract One of the major problems to be addressed in aquaculture is the prominence of antimicrobial resistance (AMR). The occurrence of bacterial infections in cultured fishes promotes the continuous use of antibiotics in aquaculture, which results in the...
Related ArticlesChronic fatigue syndrome: progress and possibilities. Med J Aust. 2020 Apr 05;: Authors: Sandler CX, Lloyd AR Abstract Chronic fatigue syndrome (CFS) is a prevalent condition affecting about one in 100 patients attending primary care. There is no diagnostic test, validated biomarker, clear pathophysiology or curative treatment. The core symptom of fatigue affects both physical and cognitive activities, and features a prolonged post-activity...
Related ArticlesFlexible film dosimeter for in vivo dosimetry. Med Phys. 2020 Apr 05;: Authors: Cho JD, Son J, Sung J, Choi CH, Kim JS, Wu HG, Park JM, Kim JI Abstract PURPOSE: The aims of this study were the development of a flexible film dosimeter applicable to the irregular surface of a patient for in vivo dosimetry and an evaluation of the device's dosimetric characteristics. METHODS: A flexible film dosimeter with active layers consisting...
Related ArticlesSpray drying and storage of probiotic enriched almond milk: probiotic survival and physicochemical properties. J Sci Food Agric. 2020 Apr 05;: Authors: Lipan L, Rusu B, Sendra E, Hernández F, Vázquez-Araújo L, Vodnar DC, Carbonell-Barrachina ÁA Abstract BACKGROUND: The combination of the nutritional profile of almond milk with the benefits of probiotic bacteria are an interesting development to cover the demand of sustainable and health-promoting...
Related ArticlesMagnolol induces adipogenic differentiation in human skin. Br J Dermatol. 2020 Apr 05;: Authors: Kim MS, Lee S, Park SB, Kim KY, Kim Y, Kang HY, Park SG, Kang NG Abstract The skin adipose tissue participates in energy storage, thermogenesis, endocrine secretion, fibrosis and scarring, and innate immune defense.1 Furthermore, the facial subcutaneous fat is important for skin aging such as elasticity and wrinkle formation.2,3 The subcutaneous...
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Related ArticlesAttitudes towards genetic testing and information: does parenthood shape the views? J Community Genet. 2020 Apr 04;: Authors: Saastamoinen A, Hyttinen V, Kortelainen M, Aaltio J, Auranen M, Ylikallio E, Lönnqvist T, Sainio M, Suomalainen A, Tyynismaa H, Isohanni P Abstract This study examines how parents of pediatric patients might differ in their views and attitudes towards genetic technology and information when compared to adult patients....
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Related ArticlesATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. Hum Genet. 2020 Apr 04;: Authors: Wallace DF, Dooley JS Abstract Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported...
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