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J Feng, X Y Gong, Y J Jia, K Q Liu, Y Li, X B Dong, Q Y Fang, K Ru, Q H Li, H J Wang, X L Zhao, Y N Jia, Y Song, Z Tian, M Wang, K J Tang, J X Wang, Y C Mi
Objective: To investigate the spectrum of gene mutations in adult patients with B-acute lymphoblastic leukemia (B-ALL), and to analyze the influences of different gene mutations on prognosis. Methods: DNA samples from 113 adult B-ALL patients who administered from June 2009 to September 2015 were collected. Target-specific next generation sequencing (NGS) approach was used to analyze the mutations of 112 genes (focused on the specific mutational hotspots) and all putative mutations were compared against multiple databases to calculate the frequency spectrum...
February 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
L M Wu, J R Bao, L H Zheng, G Chen, L G Ding, Y Yao
Objective: To evaluate the results of catheter ablation of ventricular tachycardia (VT) via direct ventricle puncture access in patients without traditional approach. Methods: Two idiopathic left fasicular VT patients with mechanical aortic and mitrial valve repalcement and 1 patient with right ventricular originated VT post mechanical tricuspid valve repalcement from March 2010 to July 2012 in Fuwai hospital were enrolled in this study. For left fasicular VT patients, catheter ablation was performed using transapical left ventricular access via minithoracotomy...
March 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
W Z Pan, D X Zhou, X C Zhang, L Zhang, L Wei, J B Ge
Objective: To investigate the safety and efficacy of transcatheter aortic valve replacement(TAVR) through transcarotid approach for patients with severe aortic valve stenosis. Methods: The clinical data of 9 symptomatic severe aortic valve stenosis patients who had high or prohibitive risk for surgery and not suitable for TAVR through femoral artery access,and thus received TAVR through transcarotid approach in our hospital from November 2015 to February 2017 were retrospectively analyzed.The patients were followed up to observe the safety and efficacy of the procedure...
March 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
X Q Wang, C S Wu, S Sun, J Wang, W Li, W Zhang
Objective: To investigate the situation of hip dislocation with the application of "femur first" principle and "combined anteversion technique" during total hip arthroplasty. Methods: A retrospective analysis has been done on the clinical data about 104 patients(133 hips)who were diagnosed as hip disease and were treated with total hip arthroplasty by the doctors from the Department of Joint Orthorpaedics of Shandong Provincial Hospital Affiliated to Shandong University from June 2014 to June 2016, and all the prostheses applied in the operation were cementless ones...
April 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
P Apostolopoulos, K A Ekmektzoglou, K Paraskeva, K Dimopoulos, K Paparaskeva, G Alexandrakis
A variant of bile duct carcinoma, intraductal papillary neoplasm of the bile duct (IPNB) is a rare disease mainly found in Eastern Asia which encompasses a spectrum of intraductal papillary growth occurring anywhere along the intrahepatic and/or extrahepatic biliary tree that carries a high potential for malignancy. We report the case of a patient with episodes of recurrent cholangitis that was diagnosed with IPNB, our clinical and diagnostic approach, the radiographic and endoscopic findings, the interventions used, while discussing the therapeutic options...
January 2018: Acta Gastro-enterologica Belgica
A J Christensen, Venkatraman Srinivasan, John C Hart, Amy Marshall-Colon
Sustainable crop production is a contributing factor to current and future food security. Innovative technologies are needed to design strategies that will achieve higher crop yields on less land and with fewer resources. Computational modeling coupled with advanced scientific visualization enables researchers to explore and interact with complex agriculture, nutrition, and climate data to predict how crops will respond to untested environments. These virtual observations and predictions can direct the development of crop ideotypes designed to meet future yield and nutritional demands...
March 17, 2018: Nutrition Reviews
Shalender Bhasin, Juan P Brito, Glenn R Cunningham, Frances J Hayes, Howard N Hodis, Alvin M Matsumoto, Peter J Snyder, Ronald S Swerdloff, Frederick C Wu, Maria A Yialamas
Objective: To update the "Testosterone Therapy in Men With Androgen Deficiency Syndromes" guideline published in 2010. Participants: The participants include an Endocrine Society-appointed task force of 10 medical content experts and a clinical practice guideline methodologist. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation approach to describe the strength of recommendations and the quality of evidence...
March 17, 2018: Journal of Clinical Endocrinology and Metabolism
Simon Pini, Emma Ingleson, Molly Megson, Linda Clare, Penny Wright, Jan R Oyebode
Background and Objectives: Approximately half the care for people with dementia is provided by families. It is therefore imperative that research informs ways of maintaining such care. In this study, we propose that a needs-led approach can provide a useful, novel means of conceptualizing the impact of caring on the lives of family carers. Our aim was to develop and present a needs-led framework for understanding how providing care impacts on carers' fulfilment of needs. Design and Methods: In this qualitative study, we conducted 42 semistructured interviews with a purposively diverse sample of family carers to generate nuanced contextualized accounts of how caring impacted on carers' lives...
March 19, 2018: Gerontologist
Sora Yoon, Hai C T Nguyen, Yun J Yoo, Jinhwan Kim, Bukyung Baik, Sounkou Kim, Jin Kim, Sangsoo Kim, Dougu Nam
Pathway-based analysis in genome-wide association study (GWAS) is being widely used to uncover novel multi-genic functional associations. Many of these pathway-based methods have been used to test the enrichment of the associated genes in the pathways, but exhibited low powers and were highly affected by free parameters. We present the novel method and software GSA-SNP2 for pathway enrichment analysis of GWAS P-value data. GSA-SNP2 provides high power, decent type I error control and fast computation by incorporating the random set model and SNP-count adjusted gene score...
March 19, 2018: Nucleic Acids Research
Joel A Boyd, Ben J Woodcroft, Gene W Tyson
Large-scale metagenomic datasets enable the recovery of hundreds of population genomes from environmental samples. However, these genomes do not typically represent the full diversity of complex microbial communities. Gene-centric approaches can be used to gain a comprehensive view of diversity by examining each read independently, but traditional pairwise comparison approaches typically over-classify taxonomy and scale poorly with increasing metagenome and database sizes. Here we introduce GraftM, a tool that uses gene specific packages to rapidly identify gene families in metagenomic data using hidden Markov models (HMMs) or DIAMOND databases, and classifies these sequences using placement into pre-constructed gene trees...
March 19, 2018: Nucleic Acids Research
A K Winter, M E Martinez, F T Cutts, W J Moss, M Ferrari, A McKee, J Lessler, K Hayford, J Wallinga, C J E Metcalf
Control efforts for measles and rubella are intensifying globally. It becomes increasingly important to identify and reach remaining susceptible populations as elimination is approached. Serological surveys for measles and rubella can potentially measure susceptibility directly, but their use remains rare. Here, using simulations, we outline key subtleties in interpretation associated with the dynamic context of age-specific immunity, highlighting how the patterns of immunity predicted from disease surveillance and vaccination coverage data may be misleading...
March 19, 2018: Journal of Infectious Diseases
Kathryn Z Guyton, Ivan Rusyn, Weihsueh A Chiu, Denis E Corpet, Martin van den Berg, Matthew K Ross, David C Christiani, Frederick A Beland, Martyn T Smith
Smith et al. (Env. Health Perspect. 124: 713, 2016) identified 10 key characteristics (KCs), one or more of which are commonly exhibited by established human carcinogens. The KCs reflect the properties of a cancer-causing agent, such as 'is genotoxic,' 'is immunosuppressive' or 'modulates receptor-mediated effects,' and are distinct from the hallmarks of cancer, which are the properties of tumors. To assess feasibility and limitations of applying the KCs to diverse agents, methods and results of mechanistic data evaluations were compiled from eight recent IARC Monograph meetings...
February 21, 2018: Carcinogenesis
M Clare Butler Ellis, Marc C Kennedy, Christian J Kuster, Rafael Alanis, Clive R Tuck
The BREAM (Bystander and Resident Exposure Assessment Model) (Kennedy et al. in BREAM: A probabilistic bystander and resident exposure assessment model of spray drift from an agricultural boom sprayer. Comput Electron Agric 2012;88:63-71) for bystander and resident exposure to spray drift from boom sprayers has recently been incorporated into the European Food Safety Authority (EFSA) guidance for determining non-dietary exposures of humans to plant protection products. The component of BREAM, which relates airborne spray concentrations to bystander and resident dermal exposure, has been reviewed to identify whether it is possible to improve this and its description of variability captured in the model...
March 17, 2018: Annals of Work Exposures and Health
Xiaolei Zhang, Michelle B Trevino, Miao Wang, Stephen J Gardell, Julio E Ayala, Xianlin Han, Daniel P Kelly, Bret H Goodpaster, Rick B Vega, Paul M Coen
The progression of age-related sarcopenia can be accelerated by impaired recovery of muscle mass following periods of disuse due to illness or immobilization. However, the mechanisms underlying poor recovery of aged muscle following disuse remain to be delineated. Recent evidence suggests that mitochondrial energetics play an important role in regulation of muscle mass. Here, we report that 22-24 month old mice with low muscle mass and low glucose clearance rate also display poor early recovery of muscle mass following 10 days of hind limb unloading...
March 19, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Jade-Emmanuelle Deshaies, Lulzim Shkreta, Alexander J Moszczynski, Hadjara Sidibé, Sabrina Semmler, Aurélien Fouillen, Estelle R Bennett, Uriya Bekenstein, Laurie Destroismaisons, Johanne Toutant, Quentin Delmotte, Kathryn Volkening, Stéphanie Stabile, Anaïs Aulas, Yousra Khalfallah, Hermona Soreq, Antonio Nanci, Michael J Strong, Benoit Chabot, Christine Vande Velde
The RNA binding proteins TDP-43 (encoded by TARDBP) and hnRNP A1 (HNRNPA1) are each mutated in certain amyotrophic lateral sclerosis cases and are often mislocalized in cytoplasmic aggregates within motor neurons of affected patients. Cytoplasmic inclusions of TDP-43, which are accompanied by a depletion of nuclear TDP-43, are observed in most amyotrophic lateral sclerosis cases and nearly half of frontotemporal dementia cases. Here, we report that TDP-43 binds HNRNPA1 pre-mRNA and modulates its splicing, and that depletion of nuclear TDP-43 results in increased inclusion of a cassette exon in the HNRNPA1 transcript, and consequently elevated protein levels of an isoform containing an elongated prion-like domain, referred to as hnRNP A1B...
March 19, 2018: Brain: a Journal of Neurology
Jesse D Berman, Thomas M Peters, Kirsten A Koehler
Objectives: To design a method that uses preliminary hazard mapping data to optimize the number and location of sensors within a network for a long-term assessment of occupational concentrations, while preserving temporal variability, accuracy, and precision of predicted hazards. Methods: Particle number concentrations (PNCs) and respirable mass concentrations (RMCs) were measured with direct-reading instruments in a large heavy-vehicle manufacturing facility at 80-82 locations during 7 mapping events, stratified by day and season...
March 17, 2018: Annals of Work Exposures and Health
Jamie McCann, Tae-Soo Jang, Jiri Macas, Gerald M Schneeweiss, Nicholas J Matzke, Petr Novák, Tod F Stuessy, José L Villaseñor, Hanna Weiss-Schneeweiss
Allopolyploidy has played an important role in the evolution of the flowering plants. Genome mergers are often accompanied by significant and rapid alterations of genome size and structure via chromosomal rearrangements and altered dynamics of tandem and dispersed repetitive DNA families. Recent developments in sequencing technologies and bioinformatic methods allow for a comprehensive investigation of the repetitive component of plant genomes. Interpretation of evolutionary dynamics following allopolyploidization requires both the knowledge of parentage and the age of origin of an allopolyploid...
March 19, 2018: Systematic Biology
Heitor S P de Souza, Claudio Fiocchi
Despite unquestionable progress in the management of inflammatory bowel disease (IBD) and the much improved clinical results achievable today in Crohn's disease (CD) and ulcerative colitis (UC) patients, the overall therapeutic outcome remains far from optimal. The main reason of this partial success is that all current medications only block individual components of a highly complex disease process that results from the integration of multiple and incompletely identified pathogenic components. Thus, if further progress is to be achieved in IBD therapeutics and we want to move from the current success rate to nearly 100%, bold new ideas must be entertained and new approaches put into practice...
March 19, 2018: Inflammatory Bowel Diseases
Nghia H Nguyen, Lucila Ohno-Machado, William J Sandborn, Siddharth Singh
Background and Aims: Prevalence of inflammatory bowel diseases (IBD) in older patients is increasing. Risk-benefit trade-offs of therapy are poorly understood in older patients, who may be at higher risk of nonIBD and/or treatment-related complications, rather than disease-related complications. We conducted a nationally representative cohort study to estimate and compare annual burden, costs, and causes for hospitalization in older versus younger patients with IBD. Methods: Using the Nationwide Readmissions Database 2013, we created a cohort of 47,402 patients with IBD who had been hospitalized at least once between January-June 2013 and followed for rehospitalization until December 2013...
March 19, 2018: Inflammatory Bowel Diseases
Bruno Leite Rodrigues, Luís Fernando Carvalho-Costa, Israel de Souza Pinto, José Manuel Macário Rebêlo
Sand fly (Diptera: Psychodidae) taxonomy is complex and time-consuming, which hampers epidemiological efforts directed toward controlling leishmaniasis in endemic regions such as northeastern Brazil. Here, we used a fragment of the mitochondrial cytochrome c oxidase I (COI) gene to identify sand fly species in Maranhão State (northeastern Brazil) and to assess cryptic diversity occurring at different spatial scales. For this, we obtained 148 COI sequences of 15 sand fly species (10 genera) from Maranhão (fine spatial scale), and joined them to COI sequences from other Brazilian localities (distant about 2,000 km from Maranhão, broad spatial scale) available in GenBank...
March 17, 2018: Journal of Medical Entomology
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