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https://www.readbyqxmd.com/read/28918587/genome-wide-association-studies-of-albuminuria-towards-genetic-stratification-in-diabetes
#1
REVIEW
Cristian Pattaro
Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some studies, results look sparse with a limited number of loci reported so far. This review searched for GWAS studies of albumin excretion, albuminuria, and proteinuria. The resulting picture sets elements of uniqueness for albuminuria GWAS with respect to other complex traits. So far, very few loci associated with albuminuria have been validated by means of genome-wide significant evidence or formal replication...
September 16, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28918100/transcriptomic-and-epigenomic-biomarkers-of-antidepressant-response
#2
REVIEW
Raoul Belzeaux, Rixing Lin, Chelsey Ju, Marc-Aurele Chay, Laura M Fiori, Pierre-Eric Lutz, Gustavo Turecki
BACKGROUND: Antidepressant treatment is associated with a high rate of poor response, and thus, biomarker development is warranted. METHODS: We aimed to synthesize studies investigating gene expression, small RNAs, and epigenomic biomarkers of antidepressant response. We conducted a narrative review of the literature. RESULTS: Firstly, we detailed the challenges involved, in terms of biological tissues, relevant study time frames, and mandatory statistical tools...
September 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#3
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28918050/the-function-and-therapeutic-potential-of-long-non-coding-rnas-in-cardiovascular-development-and-disease
#4
REVIEW
Clarissa P C Gomes, Helen Spencer, Kerrie L Ford, Lauriane Y M Michel, Andrew H Baker, Costanza Emanueli, Jean-Luc Balligand, Yvan Devaux
The popularization of genome-wide analyses and RNA sequencing led to the discovery that a large part of the human genome, while effectively transcribed, does not encode proteins. Long non-coding RNAs have emerged as critical regulators of gene expression in both normal and disease states. Studies of long non-coding RNAs expressed in the heart, in combination with gene association studies, revealed that these molecules are regulated during cardiovascular development and disease. Some long non-coding RNAs have been functionally implicated in cardiac pathophysiology and constitute potential therapeutic targets...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28918038/strategies-for-in%C3%A2-vivo-screening-and-mitigation-of-hepatotoxicity-associated-with-antisense-drugs
#5
Piotr J Kamola, Klio Maratou, Paul A Wilson, Kay Rush, Tanya Mullaney, Tom McKevitt, Paula Evans, Jim Ridings, Probash Chowdhury, Aude Roulois, Ann Fairchild, Sean McCawley, Karen Cartwright, Nigel J Gooderham, Timothy W Gant, Kitty Moores, Stephen A Hughes, Mark R Edbrooke, Kenneth Clark, Joel D Parry
Antisense oligonucleotide (ASO) gapmers downregulate gene expression by inducing enzyme-dependent degradation of targeted RNA and represent a promising therapeutic platform for addressing previously undruggable genes. Unfortunately, their therapeutic application, particularly that of the more potent chemistries (e.g., locked-nucleic-acid-containing gapmers), has been hampered by their frequent hepatoxicity, which could be driven by hybridization-mediated interactions. An early de-risking of this liability is a crucial component of developing safe, ASO-based drugs...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917824/parkinson-s-disease-susceptibility-variants-and-severity-of-lewy-body-pathology
#6
Michael G Heckman, Koji Kasanuki, Nancy N Diehl, Shunsuke Koga, Alexandra Soto, Melissa E Murray, Dennis W Dickson, Owen A Ross
INTRODUCTION: Meta-analyses of genome-wide association studies (GWAS) have established common genetic risk factors for clinical Parkinson's disease (PD); however, associations between these risk factors and quantitative neuropathologic markers of disease severity have not been well-studied. This study evaluated associations of nominated variants from the most recent PD GWAS meta-analysis with Lewy body disease (LBD) subtype (brainstem, transitional, or diffuse) and pathologic burden of LB pathology as measured by LB counts in five cortical regions in a series of LBD cases...
September 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28917724/backward-genotype-transcript-phenotype-association-mapping
#7
Seunghak Lee, Haohan Wang, Eric P Xing
Genome-wide association studies have discovered a large number of genetic variants associated with complex diseases such as Alzheimer's disease. However, the genetic background of such diseases is largely unknown due to the complex mechanisms underlying genetic effects on traits, as well as a small sample size (e.g., 1000) and a large number of genetic variants (e.g., 1 million). Fortunately, datasets that contain genotypes, transcripts, and phenotypes are becoming more readily available, creating new opportunities for detecting disease-associated genetic variants...
September 13, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28917709/in-vitro-interactions-of-acanthamoeba-castellanii-neff-and-vibrio-harveyi
#8
María Reyes-Batlle, Alberto J Martín-Rodríguez, Atteneri López-Arencibia, Ines Sifaoui, Aitor Rizo Liendo, Carlos J Bethencourt Estrella, Ana B García Méndez, Olfa Chiboub, Soumaya Hajaji, Basilio Valladares, Enrique Martínez-Carretero, José E Piñero, Jacob Lorenzo-Morales
Free-living amoebae (FLA) are opportunistic protozoa widely distributed in the environment. They are frequently found in water and soil samples, but they have also been reported to be associated with bacterial human pathogens such as Legionella spp. Campylobacter spp or Vibrio cholerae among others. Including within Vibrio spp. V. harveyi (Johnson and Shunk, 1936) is a bioluminescent marine bacteria which has been found swimming freely in tropical marine waters, being part of the stomach and intestine microflora of marine animals, and as both a primary and opportunistic pathogen of marine animals...
September 13, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28917655/inactivation-of-tnf-lt-locus-alters-mouse-metabolic-response-to-concentrated-ambient-pm2-5
#9
Ziying Hu, Minjie Chen, Huifen Zhou, Anui Tharakan, Xiaoke Wang, Lianglin Qiu, Shuai Liang, Xiaobo Qin, Yuhao Zhang, Wanjun Wang, Yanyi Xu, Zhekang Ying
BACKGROUND: Exposure to ambient fine particulate matter (PM2.5) is associated with increased cardiometabolic morbidity and mortality. This is widely believed to be attributable to PM2.5 exposure-induced pulmonary and subsequent systemic inflammation. Tumor necrosis factor alpha (TNFα), lymphotoxin α (LTα), and lymphotoxin β (LTβ) are three homologous pro-inflammatory cytokines, each with both unique and redundant activities in inflammation. Their role in PM2.5 exposure-induced inflammation and adverse cardiometabolic effects has to be determined...
September 13, 2017: Toxicology
https://www.readbyqxmd.com/read/28917562/an-updated-meta-analysis-of-novel-oral-anticoagulants-versus-vitamin-k-antagonists-for-uninterrupted-anticoagulation-in-atrial-fibrillation-catheter-ablation
#10
Rhanderson Cardoso, Leonardo Knijnik, Aditya Bhonsale, Guilherme Nasi, Manuel Rivera, Vanessa Blumer, Hugh Calkins
BACKGROUND: Catheter ablation is recommended as a first or second-line rhythm control therapy for selected patients with atrial fibrillation (AF). There is a wide variability in the periprocedural management of oral anticoagulation for patients undergoing AF ablation. OBJECTIVE: We aimed to perform an updated meta-analysis of novel oral anticoagulants (NOACs) vs. vitamin K antagonists (VKAs) as uninterrupted anticoagulation for patients undergoing AF ablation. METHODS: Databases and conference abstracts were searched...
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28917544/effects-on-the-incidence-of-cardiovascular-events-of-the-addition-of-pioglitazone-versus-sulfonylureas-in-patients-with-type-2-diabetes-inadequately-controlled-with-metformin-tosca-it-a-randomised-multicentre-trial
#11
Olga Vaccaro, Maria Masulli, Antonio Nicolucci, Enzo Bonora, Stefano Del Prato, Aldo P Maggioni, Angela A Rivellese, Sebastiano Squatrito, Carlo B Giorda, Giorgio Sesti, Paolo Mocarelli, Giuseppe Lucisano, Michele Sacco, Stefano Signorini, Fabrizio Cappellini, Gabriele Perriello, Anna Carla Babini, Annunziata Lapolla, Giovanna Gregori, Carla Giordano, Laura Corsi, Raffaella Buzzetti, Gennaro Clemente, Graziano Di Cianni, Rossella Iannarelli, Renzo Cordera, Olga La Macchia, Chiara Zamboni, Cristiana Scaranna, Massimo Boemi, Ciro Iovine, Davide Lauro, Sergio Leotta, Elisabetta Dall'Aglio, Emanuela Cannarsa, Laura Tonutti, Giuseppe Pugliese, Antonio C Bossi, Roberto Anichini, Francesco Dotta, Antonino Di Benedetto, Giuseppe Citro, Daniela Antenucci, Lucia Ricci, Francesco Giorgino, Costanza Santini, Agostino Gnasso, Salvatore De Cosmo, Donatella Zavaroni, Monica Vedovato, Agostino Consoli, Maria Calabrese, Paolo di Bartolo, Paolo Fornengo, Gabriele Riccardi
BACKGROUND: The best treatment option for patients with type 2 diabetes in whom treatment with metformin alone fails to achieve adequate glycaemic control is debated. We aimed to compare the long-term effects of pioglitazone versus sulfonylureas, given in addition to metformin, on cardiovascular events in patients with type 2 diabetes. METHODS: TOSCA.IT was a multicentre, randomised, pragmatic clinical trial, in which patients aged 50-75 years with type 2 diabetes inadequately controlled with metformin monotherapy (2-3 g per day) were recruited from 57 diabetes clinics in Italy...
September 12, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28917266/urinary-biomarkers-in-prostate-cancer-detection-and-monitoring-progression
#12
REVIEW
Duojia Wu, Jie Ni, Julia Beretov, Paul Cozzi, Mark Willcox, Valerie Wasinger, Bradley Walsh, Peter Graham, Yong Li
Prostate cancer (CaP) is the most common cancer in men and the second leading cause of cancer deaths in males in Australia. Although serum prostate-specific antigen (PSA) has been the most widely used biomarker in CaP detection for decades, PSA screening has limitations such as low specificity and potential association with over-diagnosis. Current biomarkers used in the clinic are not useful for the early detection of CaP, or monitoring its progression, and have limited value in predicting response to treatment...
October 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28916976/preoperative-risk-factors-for-postoperative-complications-in-endoscopic-pituitary-surgery-a-systematic-review
#13
REVIEW
Daniel J Lobatto, Friso de Vries, Amir H Zamanipoor Najafabadi, Alberto M Pereira, Wilco C Peul, Thea P M Vliet Vlieland, Nienke R Biermasz, Wouter R van Furth
BACKGROUND: The ability to preoperatively predict postoperative complication risks is valuable for individual counseling and (post)operative planning, e.g. to select low-risk patients eligible for short stay surgery or those with higher risks requiring special attention. These risks however, are not well established in pituitary surgery. METHODS: We conducted a systematic review of associations between preoperative characteristics and postoperative complications of endoscopic transsphenoidal surgery according to the PRISMA guidelines...
September 15, 2017: Pituitary
https://www.readbyqxmd.com/read/28916971/emergency-room-visits-and-readmissions-following-implementation-of-an-enhanced-recovery-after-surgery-ieras-program
#14
Trevor Wood, Mary-Anne Aarts, Allan Okrainec, Emily Pearsall, J Charles Victor, Marg McKenzie, Ori Rotstein, Robin S McLeod
BACKGROUND: Enhanced Recovery After Surgery (ERAS) guidelines have been widely promoted and supported largely due to several studies showing decreased post-operative complications and length of stay. The objective of this study was to review the emergency room (ER) visits and readmission rates and reasons for both in patients who were part of the Implementation of an Enhanced Recovery After Surgery (iERAS) program for colorectal surgery. METHODS: All patients having elective colorectal surgery at 15 academic hospitals were enrolled in the iERAS program...
September 15, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28916929/trace-elements-and-healthcare-a-bioinformatics-perspective
#15
Yan Zhang
Biological trace elements are essential for human health. Imbalance in trace element metabolism and homeostasis may play an important role in a variety of diseases and disorders. While the majority of previous researches focused on experimental verification of genes involved in trace element metabolism and those encoding trace element-dependent proteins, bioinformatics study on trace elements is relatively rare and still at the starting stage. This chapter offers an overview of recent progress in bioinformatics analyses of trace element utilization, metabolism, and function, especially comparative genomics of several important metals...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916891/a-prospective-randomized-study-of-loop-tip-versus-straight-tip-guidewire-in-wire-guided-biliary-cannulation
#16
Jae Chul Hwang, Byung Moo Yoo, Min Jae Yang, Yeon Kyung Lee, Ju Young Lee, Kihyun Lim, Choong-Kyun Noh, Hyo Jung Cho, Soon Sun Kim, Jin Hong Kim
BACKGROUND: Wire-guided cannulation has been widely accepted as a useful technique for achieving selective biliary access because it has significantly increased the success rate of biliary cannulation compared with conventional contrast-assisted cannulation. Unlike conventional guidewires with a straight tip, a loop-tip guidewire (LGW) has a closed distal loop that may facilitate less traumatic access through the epithelial folds of the intra-duodenal biliary segments. The aim of this study was to compare the performance of a LGW with a straight-tip guidewire (SGW) in achieving successful selective biliary cannulation...
September 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28916874/development-of-cacta-transposon-derived-scar-markers-and-their-use-in-population-structure-analysis-in-zea-mays
#17
Neha Samir Roy, Kyong-Cheul Park, Sung-Il Lee, Min-Ji Im, Rahul Vasudeo Ramekar, Nam-Soo Kim
Molecular marker technologies have proven to be an important breakthrough for genetic studies, construction of linkage maps and population genetics analysis. Transposable elements (TEs) constitute major fractions of repetitive sequences in plants and offer a wide range of possible areas to be explored as molecular markers. Sequence characterized amplified region (SCAR) marker development provides us with a simple and time saving alternative approach for marker development. We employed the CACTA-TD to develop SCARs and then integrated them into linkage map and used them for population structure and genetic diversity analysis of corn inbred population...
September 15, 2017: Genetica
https://www.readbyqxmd.com/read/28916633/systems-genetics-identifies-a-co-regulated-module-of-liver-micrornas-associated-with-plasma-ldl-cholesterol-in-murine-diet-induced-dyslipidemia
#18
Alisha R Coffey, Tangi L Smallwood, Jody Albright, Kunjie Hua, Matt Kanke, Daniel Pomp, Brian J Bennett, Praveen Sethupathy
Chronically altered levels of circulating lipids, termed dyslipidemia, is a significant risk factor for a number of metabolic and cardiovascular morbidities. MicroRNAs (miRNAs) have emerged as important regulators of lipid balance, have been implicated in dyslipidemia, and have been proposed as candidate therapeutic targets in lipid-related disorders including atherosclerosis. A major limitation of most murine studies of miRNAs in lipid metabolic disorders is that they have been performed in just one (or very few) inbred strains, such as C57BL/6...
September 15, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28916560/cmeabc-multidrug-efflux-pump-contributes-to-antibiotic-resistance-and-promotes-campylobacter-jejuni-survival-and-multiplication-in-acanthamoeba-polyphaga
#19
Ana Vieira, Amritha Ramesh, Alan M Seddon, Andrey V Karlyshev
Campylobacter jejuni is a foodborne pathogen recognized as the leading cause of human bacterial gastroenteritis. The wide use of antibiotics in medicine and in animal husbandry has led to an increased incidence of antibiotic resistance in Campylobacter In addition to a role in multidrug resistance, the Campylobacter CmeABC RND-type efflux pump, which is associated with multidrug resistance (MDR), may also be involved in virulence. As a vehicle of pathogenic microorganisms, the protozoan Acanthamoeba is a good model for the investigation of bacterial survival in the environment and molecular mechanisms of pathogenicity...
September 15, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28916551/genetic-determinants-of-radiographic-knee-osteoarthritis-in-african-americans
#20
Youfang Liu, Michelle S Yau, Laura M Yerges-Armstrong, David J Duggan, Jordan B Renner, Marc C Hochberg, Braxton D Mitchell, Rebecca D Jackson, Joanne M Jordan
OBJECTIVE: The etiology of knee osteoarthritis (OA), the most common form of arthritis, is complex and may differ by race or ethnicity. In recent years, genetic studies have identified many genetic variants associated with OA, but nearly all the studies were conducted in European whites and Asian Americans. Few studies have focused on the genetics of knee OA in African Americans. METHODS: We performed a genome-wide association study of radiographic knee OA in 1217 African Americans from 2 North American cohort studies: 590 subjects from the Johnston County Osteoarthritis Project and 627 subjects from the Osteoarthritis Initiative...
September 15, 2017: Journal of Rheumatology
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