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Clinical genomics

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https://www.readbyqxmd.com/read/29679906/microrna-876-5p-inhibits-epithelial-mesenchymal-transition-and-metastasis-of-hepatocellular-carcinoma-by-targeting-bcl6-corepressor-like-1
#1
Qiuran Xu, Qiaojuan Zhu, Zhenyu Zhou, Yufeng Wang, Xin Liu, Guozhi Yin, Xiangmin Tong, Kangsheng Tu
Our previous study has reported that BCL6 corepressor like 1 (BCORL1) plays an oncogenic role in hepatocellular carcinoma (HCC) via promoting epithelial-mesenchymal transition (EMT) and tumor metastasis. However, the regulation of BCORL1 mediated by microRNAs (miRNAs) remains poorly known. The analysis of our clinical samples indicated that BCORL1 expression was markedly higher in HCC tissues than that in tumor-adjacent normal tissues. The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) datasets revealed that high BCORL1 expression associated with high tumor grade, advanced tumor stage and poor survival of HCC patients...
April 18, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29679640/cepfostering-efficacy-and-toxicity-evaluation-of-traditional-chinese-medicine-and-natural-products
#2
REVIEW
Tong Wu, Gui-Yuan Yu, Jia Xiao, Chang Yan, Hiroshi Kurihara, Yi-Fang Li, Kwok-Fai So, Rong-Rong He
Efficacy and safety assessments are essential thresholds for drug candidates from preclinical to clinical research. Conventional mammalian in vivo models cannot offer rapid pharmacological and toxicological screening, whereas cell-based or cell-free in vitro systems often lead to inaccurate results because of the lack of physiological environment. Within the avian species, chick is the first bird to have its genome sequencing. Meantime, chick embryo is an easily operating, relatively transparent and extensively accessible model, whose physiological and pathological alterations can be visualized by egg candler, staining and image technologies...
April 18, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29679469/influence-of-transporter-polymorphisms-on-drug-disposition-and-response-a-perspective-from-the-international-transporter-consortium
#3
Sook Wah Yee, Deanna J Brackman, Elizabeth A Ennis, Yuichi Sugiyama, Landry K Kamdem, Rebecca Blanchard, Aleksandra Galetin, Lei Zhang, Kathleen M Giacomini
Advances in genomic technologies have led to a wealth of information identifying genetic polymorphisms in membrane transporters, specifically how these polymorphisms affect drug disposition and response. This review describes the current perspective of the International Transporter Consortium (ITC) on clinically important polymorphisms in membrane transporters. ITC suggests that in addition to previously recommended polymorphisms in ABCG2 (BCRP) and SLCO1B1 (OATP1B1), polymorphisms in the emerging transporter, SLC22A1 (OCT1), be considered during drug development...
April 21, 2018: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29679458/no-evidence-for-long-term-carrier-status-of-pigs-after-african-swine-fever-virus-infection
#4
A Petrov, J H Forth, L Zani, M Beer, S Blome
This study targeted the assessment of a potential African swine fever virus (ASFV) carrier state of 30 pigs in total which were allowed to recover from infection with ASFV "Netherlands'86" prior exposure to six healthy sentinel pigs for more than 2 months. Throughout the whole trial, blood and swab samples were subjected to routine virological and serological investigations. At the end of the trial, necropsy of all animals was performed and viral persistence and distribution were assessed. Upon infection, a wide range of clinical and pathomorphological signs were observed...
April 20, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29678910/serotype-diversity-and-antimicrobial-resistance-among-salmonella-enterica-isolated-from-patients-at-an-equine-referral-hospital
#5
I M Leon, S D Lawhon, K N Norman, D S Threadgill, N Ohta, J Vinasco, H M Scott
Although Salmonella enterica can produce life-threatening colitis in horses, certain serotypes are more commonly associated with clinical disease. Our aim was to evaluate the proportional morbidity attributed to different serotypes, as well as phenotypic and genotypic antimicrobial resistance (AMR) of Salmonella isolated from patients at an equine referral hospital in the southern United States. Two-hundred-fifty-five Salmonella isolates were obtained from clinical samples of patients admitted to the hospital between 2007 and 2015...
April 20, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29678899/zfas1-functions-as-an-oncogenic-long-noncoding-rna-in-bladder-cancer
#6
Haifan Yang, Ge Li, Bo Cheng, Rui Jiang
Long non-coding RNA ZFAS1 has been suggested to function as an oncogenic role in the tumorigenesis of human malignant tumors. However, the expression status and biological function of ZFAS1 in bladder cancer is still unknown. Thus, the purpose of this study is to explore the clinical value of ZFAS1 in bladder cancer patient, and the biological function of ZFAS1 in bladder cancer cell. In the present study, we found ZFAS1 expression was increased in bladder cancer tissues compared with paired adjacent normal tissues through analyzing the Cancer Genome Atlas database...
April 20, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29678761/a-recombinase-polymerase-amplification-assay-for-the-diagnosis-of-atypical-pneumonia
#7
Sebastian Kersting, Valentina Rausch, Frank F Bier, Markus von Nickisch-Rosenegk
Pneumonia is one of the most common and potentially lethal infectious conditions worldwide. Streptococcus pneumoniae is the pathogen most frequently associated with bacterial community-acquired pneumonia, while Legionella pneumophila is the major cause for local outbreaks of legionellosis. Both pathogens can be difficult to diagnose since signs and symptoms are nonspecific and do not differ from other causes of pneumonia. Therefore, a rapid diagnosis within a clinically relevant time is essential for a fast onset of the proper treatment...
April 17, 2018: Analytical Biochemistry
https://www.readbyqxmd.com/read/29678500/a-bench-top-automated-workstation-for-nucleic-acid-isolation-from-clinical-sample-types
#8
Nitu Thakore, Steve Garber, Arial Bueno, Peter Qu, Ryan Norville, Michael Villanueva, Darrell P Chandler, Rebecca Holmberg, Christopher G Cooney
Systems that automate extraction of nucleic acid from cells or viruses in complex clinical matrices have tremendous value even in the absence of an integrated downstream detector. We describe our bench-top automated workstation that integrates our previously-reported extraction method - TruTip - with our newly-developed mechanical lysis method. This is the first report of this method for homogenizing viscous and heterogeneous samples and lysing difficult-to-disrupt cells using "MagVor": a rotating magnet that rotates a miniature stir disk amidst glass beads confined inside of a disposable tube...
April 17, 2018: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29678194/the-perfect-personalized-cancer-therapy-cancer-vaccines-against-neoantigens
#9
REVIEW
Luigi Aurisicchio, Matteo Pallocca, Gennaro Ciliberto, Fabio Palombo
In the advent of Immune Checkpoint inhibitors (ICI) and of CAR-T adoptive T-cells, the new frontier in Oncology is Cancer Immunotherapy because of its ability to provide long term clinical benefit in metastatic disease in several solid and liquid tumor types. It is now clear that ICI acts by unmasking preexisting immune responses as well as by inducing de novo responses against tumor neoantigens. Thanks to theprogress made in genomics technologies and the evolution of bioinformatics, neoantigens represent ideal targets, due to their specific expression in cancer tissue and the potential lack of side effects...
April 20, 2018: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/29678161/an-unusually-high-frequency-of-scad-deficiency-caused-by-two-pathogenic-variants-in-the-acads-gene-and-its-relationship-to-the-ethnic-structure-in-slovakia
#10
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia...
April 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29678078/challenges-in-design-and-creation-of-genetic-openehr-archetype
#11
Priscila A Maranhão, Gustavo Bacelar-Silva, Duarte Gonçalves-Ferreira, Pedro Vieira-Marques, Ricardo Cruz-Correia
Since the Human Genomic Project discovered the sequencing of human genome, the interest about genome content in clinical practice has increased. Genetic information has become a key point to understand diseases or improve treatments, for example, the nutrigenomic and nutrigenetics. However, the huge amount of data generated raises the need for Electronic Health Record (EHR) improvements as it becomes increasingly necessary that it includes more specific genetic information. Thus, we aim to propose standard genetic archetypes (in openEHR) and describe our main challenges in this context...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29677504/multi-regional-sequencing-elucidates-the-evolution-of-clear-cell-renal-cell-carcinoma
#12
Christopher J Ricketts, W Marston Linehan
Extensive multi-regional whole-genome and -exome sequencing performed in tumors from patients with localized, as well as metastatic, clear cell renal cell carcinoma provides a comprehensive description of the tumor origin, intratumoral heterogeneity, evolution, and route to metastasis, laying the foundation for the development of precision clinical management.
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29677463/a-role-for-collagen-iv-in-cardiovascular-disease
#13
Lasse Bach Steffensen, Lars M Rasmussen
Over the past decade, studies have repeatedly found single nucleotide polymorphisms located in the COL4A1 and COL4A2 genes to be associated with cardiovascular disease (CVD), and the 13q34 locus harboring these genes is one of approximately 160 genome-wide significant risk loci for coronary artery disease. COL4A1 and COL4A2 encode the ⍺1- and ⍺2-chains of collagen IV, a major component of basement membranes in various tissues including arteries. In spite of the growing body of evidence indicating a role for collagen IV in CVD, remarkably few studies aim at directly investigating such a role...
April 20, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29677353/humoral-immune-response-after-intravitreal-but-not-after-subretinal-aav8-in-primates-and-patients
#14
Felix F Reichel, Tobias Peters, Barbara Wilhelm, Martin Biel, Marius Ueffing, Bernd Wissinger, Karl U Bartz-Schmidt, Reinhild Klein, Stylianos Michalakis, M Dominik Fischer
Purpose: To study longitudinal changes of anti-drug antibody (ADA) titers to recombinant adeno-associated virus serotype 8 (rAAV8) capsid epitopes in nonhuman primates (NHP) and patients. Methods: Three groups of six NHP each received subretinal injections (high dose: 1 × 1012 vector genomes [vg], low dose: 1 × 1011 vg, or vehicle only). Four additional animals received intravitreal injections of the high dose (1 × 1012 vg). Three patients received 1 × 1010 vg as subretinal injections...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29677189/progress-in-the-pharmacological-treatment-of-human-cystic-and-alveolar-echinococcosis-compounds-and-therapeutic-targets
#15
Mar Siles-Lucas, Adriano Casulli, Roberto Cirilli, David Carmena
Human cystic and alveolar echinococcosis are helmintic zoonotic diseases caused by infections with the larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, respectively. Both diseases are progressive and chronic, and often fatal if left unattended for E. multilocularis. As a treatment approach, chemotherapy against these orphan and neglected diseases has been available for more than 40 years. However, drug options were limited to the benzimidazoles albendazole and mebendazole, the only chemical compounds currently licensed for treatment in humans...
April 20, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29677111/genome-characterization-of-a-pathogenic-porcine-rotavirus-b-strain-identified-in-buryat-republic-russia-in-2015
#16
Konstantin P Alekseev, Aleksey A Penin, Alexey N Mukhin, Kizkhalum M Khametova, Tatyana V Grebennikova, Anton G Yuzhakov, Anna S Moskvina, Maria I Musienko, Sergey A Raev, Alexandr M Mishin, Alexandr P Kotelnikov, Oleg A Verkhovsky, Taras I Aliper, Eugeny A Nepoklonov, Diana M Herrera-Ibata, Frances K Shepherd, Douglas G Marthaler
An outbreak of enteric disease of unknown etiology with 60% morbidity and 8% mortality in weaning piglets occurred in November 2015 on a farm in Buryat Republic, Russia. Metagenomic sequencing revealed the presence of rotavirus B in feces from diseased piglets while no other pathogens were identified. Clinical disease was reproduced in experimentally infected piglets, yielding the 11 RVB gene segments for strain Buryat15, with an RVB genotype constellation of G12-P[4]-I13-R4-C4-M4-A8-N10-T4-E4-H7. This genotype constellation has also been identified in the United States...
April 20, 2018: Pathogens
https://www.readbyqxmd.com/read/29677098/update-treatment-for-hbv-infection-and-persistent-risk-for-hepatocellular-carcinoma-prospect-for-an-hbv-cure
#17
REVIEW
Joseph Yoo, Hie-Won Hann, Robert Coben, Mitchell Conn, Anthony J DiMarino
Since the discovery of the hepatitis B virus (HBV) by Blumberg et al. in 1965, its genome, sequence, epidemiology, and hepatocarcinogenesis have been elucidated. Globally, hepatitis B virus (HBV) is still responsible for the majority of hepatocellular carcinoma (HCC). HCC is the sixth-most common cancer in the world and the second-most common cancer death. The ultimate goal of treating HBV infection is the prevention of HCC. Fortunately, anti-HBV treatment with nucleos(t)ide analogues (NAs), which began with lamivudine in 1998, has resulted in remarkable improvements in the survival of patients with chronic hepatitis B and a reduced incidence of HCC...
April 20, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29675992/genetic-counselors-as-social-and-behavioral-scientists-in-the-era-of-precision-medicine
#18
Barbara B Biesecker
In the era of precision medicine, translating genomics into clinical care will involve answering key questions in social and behavioral research. The scope of this research addresses assessing how clients perceive and use genomic information, and how effectively genetic counseling is meeting clients' needs. Outcomes are central to enhancing practice effectiveness, improving patient outcomes, and informing cost effective services to address workforce challenges. While genetic counseling is generally thought of as a clinical practice, genetic counselors contribute to research in several ways...
March 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29675951/genomic-profiling-of-anaplastic-meningioma-identifies-recurrent-genetic-alterations-with-relevance-to-lower-grade-meningioma
#19
Patrick J Cimino, Rebecca A Yoda, Hans-Georg Wirsching, Joshua I Warrick, Michael O Dorschner, Manuel Ferriera
Meningiomas are the most common primary intracranial tumor in adults [1]. The majority of meningiomas are histologically and clinically benign and can be cured by gross total surgical resection [2]. Current histopathology-based grading does not account for a subset of meningiomas with benign histology, but nonetheless aggressive clinical behavior and a need for additional treatment [3]. This article is protected by copyright. All rights reserved.
April 19, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29675651/a-multiplex-pcr-method-for-the-simultaneous-detection-of-three-viruses-associated-with-canine-viral-enteric-infections
#20
Xiaoyu Deng, Jiali Zhang, Jiazi Su, Hao Liu, Yanlong Cong, Lei Zhang, Kemeng Zhang, Ning Shi, Rongguang Lu, Xijun Yan
The aim of this study was to establish a multiplex PCR (mPCR) method that can simultaneously detect canine parvovirus (CPV-2), canine coronavirus (CCoV) and canine adenovirus (CAV), thereby eliminating the need to detect these pathogens individually. Based on conserved regions in the genomes of these three viruses, the VP2 gene of CPV-2, the endoribonuclease nsp15 gene of CCoV, and the 52K gene of CAV were selected for primer design. The specificity of the mPCR results showed no amplification of canine distemper virus (CDV), canine parainfluenza virus (CPIV), or pseudorabies virus (PRV), indicating that the method had good specificity...
April 19, 2018: Archives of Virology
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