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https://www.readbyqxmd.com/read/28445943/a-molecular-inversion-probe-based-next-generation-sequencing-panel-to-detect-germline-mutations-in-chinese-early-onset-colorectal-cancer-patients
#1
Junxiao Zhang, Xiaoyan Wang, Richarda M de Voer, Jayne Y Hehir-Kwa, Eveline J Kamping, Robbert D A Weren, Marcel Nelen, Alexander Hoischen, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge, Xiangling Yang, Zihuan Yang, Xinjuan Fan, Lei Wang, Huanliang Liu, Jianping Wang, Roland P Kuiper, Ad Geurts van Kessel
The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ~5-10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes. Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1. From a consecutive series of 2,371 Chinese CRC patients, 140 familial and non-familial cases were selected that were diagnosed with CRC at or below the age of 35 years...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445850/simultaneous-quantification-of-busulfan-clofarabine-and-f-ara-a-using-isotope-labelled-standards-and-standard-addition-in-plasma-by-lc-ms-ms-for-exposure-monitoring-in-hematopoietic-cell-transplantation-conditioning
#2
Arjen M Punt, Jurgen B Langenhorst, Annelies C Egas, Jaap Jan Boelens, Charlotte van Kesteren, Erik M van Maarseveen
In allogeneic hematopoietic cell transplantation (HCT) it has been shown that over- or underexposure to conditioning agents have an impact on patient outcomes. Conditioning regimens combining busulfan (Bu) and fludarabine (Flu) with or without clofarabine (Clo) are gaining interest worldwide in HCT. To evaluate and possibly adjust full conditioning exposure a simultaneous analysis of Bu, F-ARA-A (active metabolite of Flu) and Clo in one analytical run would be of great interest. However, this is a chromatographical challenge due to the large structural differences of Bu compared to F-ARA-A and Clo...
April 15, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28445799/hysteroscopic-polypectomy-prior-to-infertility-treatment-a-cost-analysis-and-systematic-review
#3
REVIEW
Youssef Mouhayar, Ophelia Yin, Sunni L Mumford, James H Segars
The cost of fertility treatment is expensive and interventions that reduce cost can lead to greater efficiency and fewer embryos transferred. Endometrial polyps contribute to infertility and are frequently removed prior to infertility treatment. It is unclear whether polypectomy reduces fertility treatment cost and if so, the magnitude of cost reduction afforded by the procedure. The aim of this study was to determine whether performing office or operative hysteroscopic polypectomy prior to infertility treatment would be cost-effective...
April 13, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28445523/preventive-child-health-care-at-elementary-school-age-the-costs-of-routine-assessments-with-a-triage-approach
#4
Janine Bezem, Catharina van der Ploeg, Mattijs Numans, Simone Buitendijk, Paul Kocken, Elske van den Akker
BACKGROUND: Triage in Preventive Child Health Care (PCH) assessments could further the efficient use of human resources and budgets and therefore make extra care possible for children with specific needs. We assessed the costs of routine PCH assessments with and without triage for children aged 5/6 years and 10/11 years. In a triage approach, PCH assistants conduct pre-assessments to identify children requiring follow-up assessments by a physician or nurse. In the usual approach, all children are assessed by a physician and an assistant (children aged 5/6 years) or a nurse (children aged 10/11 years)...
2017: PloS One
https://www.readbyqxmd.com/read/28445403/detection-of-hepatitis-b-virus-m204i-mutation-by-quantum-dot-labeled-dna-probe
#5
Cheng Zhang, Yiping Chen, Xinmiao Liang, Guanhua Zhang, Hong Ma, Leng Nie, Yu Wang
Quantum dots (QDs) are semiconductor nanoparticles with a diameter of less than 10 nm, which have been widely used as fluorescent probes in biochemical analysis and vivo imaging because of their excellent optical properties. Sensitive and convenient detection of hepatitis B virus (HBV) gene mutations is important in clinical diagnosis. Therefore, we developed a sensitive, low-cost and convenient QDs-mediated fluorescent method for the detection of HBV gene mutations in real serum samples from chronic hepatitis B (CHB) patients who had received lamivudine or telbivudine antiviral therapy...
April 26, 2017: Sensors
https://www.readbyqxmd.com/read/28444412/biochemical-and-genetic-analyses-of-n-metabolism-in-maize-testcross-seedlings-1-leaves
#6
Ignacio Trucillo Silva, Hari Kishan R Abbaraju, Lynne P Fallis, Hongjun Liu, Michael Lee, Kanwarpal S Dhugga
Aside from the identification of 32 QTL for N metabolism in the seedling leaves of a maize testcross population, alanine aminotransferase was found to be a central enzyme in N assimilation. Excessive application of nitrogen (N) fertilizer to grow commercial crops like maize is a cause of concern because of the runoff of excess N into streams and rivers. Breeding maize with improved N use efficiency (NUE) would reduce environmental pollution as well as input costs for the farmers. An understanding of the genetics underlying N metabolism is key to breeding for NUE...
April 25, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28444356/long-term-effects-of-drought-on-tree-ring-growth-and-carbon-isotope-variability-in-scots-pine-in-a-dry-environment
#7
Galina Timofeeva, Kerstin Treydte, Harald Bugmann, Andreas Rigling, Marcus Schaub, Rolf Siegwolf, Matthias Saurer
Drought frequency is increasing in many parts of the world and may enhance tree decline and mortality. The underlying physiological mechanisms are poorly understood, however, particularly regarding chronic effects of long-term drought and the response to increasing temperature and vapor pressure deficit (VPD). We combined analyses of radial growth and stable carbon isotope ratios (δ13C) in tree rings in a mature Scots pine (Pinus sylvestris L.) forest over the 20th century to elucidate causes of tree mortality in one of the driest parts of the European Alps (Pfynwald, Switzerland)...
April 21, 2017: Tree Physiology
https://www.readbyqxmd.com/read/28444193/quantitative-assessment-of-timing-efficiency-specificity-and-genetic-mosaicism-of-crispr-cas9-mediated-gene-editing-of-hemoglobin-beta-gene-in-rhesus-monkey-embryos
#8
Uros Midic, Pei-Hsuan Hung, Kailey A Vincent, Benjamin Goheen, Patrick G Schupp, Diane D Chen, Daniel E Bauer, Catherine A VandeVoort, Keith E Latham
Gene editing technologies offer new options for developing novel biomedical research models and for gene and stem cell based therapies. However, applications in many species demand high efficiencies, specificity, and a thorough understanding of likely editing outcomes. To date, overall efficiencies, rates of off-targeting, and degree of genetic mosaicism have not been well-characterized for most species, limiting our ability to optimize methods. As a model gene for measuring these parameters of CRISPR/Cas9 application in a primate species (rhesus monkey), we selected the β-hemoglobin gene (HBB), which also has high relevance to potential application of gene editing and stem-cell technologies for treating human disease...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28444039/the-health-regionalization-process-from-the-perspective-of-the-transation-cost-theory
#9
Leyla Gomes Sancho, Daniela Savi Geremia, Sulamis Dain, Fabiano Geremia, Cláudio José Silva Leão
This study analyzes the incidence of transaction costs in the regionalization process of health policies in the Brazilian federal system. In this work, regionalized health actions contracted and agreed between federal agencies have assumed a transactional nature. A conceptual theoretical essay of reflective nature was prepared with the purpose of questioning and proposing new approaches to improve the health regionalization process. The main considerations suggest that institutional management tools proposed by the standards and regulations of the Unified Health System have a low potential to reduce transaction costs, especially due to hardships in reconciling common goals among the entities, environment surrounded by uncertainty, asymmetries and incomplete information, bounded rationality and conflict of interest...
April 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28443923/use-of-alcl3-in-friedel-crafts-arylation-type-reactions-and-beyond-an-overview-on-the-development-of-unique-methodologies-leading-to-n-heteroarenes
#10
REVIEW
Rajnikanth Sunke, Suresh Babu Nallapati, Jetta Sandeep Kumar, K Shiva Kumar, Manojit Pal
As a privileged class of heterocyclic compounds N-heteroarenes have found enormous applications in many areas including medicinal/pharmaceutical chemistry and drug discovery. Consequently, a wide variety of methods have been reported for their synthesis. While not free from their own limitations the AlCl3 mediated methods appeared to have some particular advantages in preparing a number of useful N-heteroarenes. Besides the famous Friedel-Crafts (FC) alkylation/acylation reactions one such example is AlCl3-induced heteroarylation of arenes and heteroarenes (FC arylation type reactions) that can be used to prepare a certain class of N-heteroarenes in an operationally simple, efficient and cost effective manner...
April 26, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28443860/fabrication-of-large-area-polymer-microfilter-membranes-and-their-application-for-particle-and-cell-enrichment
#11
Javier Alejandro Hernández-Castro, Kebin Li, Anne Meunier, David Juncker, Teodor Veres
A vacuum assisted UV micro-molding (VAUM) process is proposed for the fabrication of freestanding and defect-free polymer membranes based on a UV-curable methacrylate polymer (MD 700). VAUM is a highly flexible and powerful method for fabricating low cost, robust, large-area membranes over 9 × 9 cm(2) with pore sizes from 8 to 20 μm in diameter, 20 to 100 μm in thickness, high aspect ratio (the thickness of the polymer over the diameter of the hole is up to 15 : 1), high porosity, and a wide variety of geometrical characteristics...
April 26, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28443387/microwave-activated-carbons-from-tucum%C3%A3-astrocaryum-aculeatum-seed-for-efficient-removal-of-2-nitrophenol-from-aqueous-solutions
#12
Cibele S Umpierres, Pascal S Thue, Eder C Lima, Glaydson S Dos Reis, Irineu A S de Brum, Wagner S de Alencar, Silvio L P Dias, Guilherme L Dotto
Activated carbons (ACs) prepared from tucumã seed (Astrocaryum aculeatum) were used for 2-nitrophenol removal from aqueous solutions. The activated carbons were characterized by elemental analysis, FTIR, N2 adsorption/desorption isotherms, TGA, hydrophobicity/hydrophilicity balance, and total of acidic and basic groups. The ACs showed to have hydrophilic surfaces and they presented high specific surface areas (up to 1318 m(2)g(-1)). In batch optimization studies, maximum removal was obtained at pH 7, contact time of 30 min, adsorbent dosage 1...
April 26, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28443247/evaluation-of-a-new-ifn-%C3%AE-release-assay-for-rapid-diagnosis-of-active-tuberculosis-in-a-high-incidence-setting
#13
Gen Li, Feng Li, Hui-Min Zhao, Han-Li Wen, Hai-Cong Li, Chun-Ling Li, Ping Ji, Peng Xu, Kang Wu, Zhi-Dong Hu, Shui-Hua Lu, Douglas B Lowrie, Jian-Xin Lv, Xiao-Yong Fan
Blood-based interferon-gamma (IFN-γ) release assays (IGRAs) have been proven to be useful in the diagnosis of Mycobacterium tuberculosis (Mtb) infection. However, IGRAs have not been recommended for clinical practice in most low-income settings due to cost-intensive limitations and shortage of clinical data available. The established T-SPOT. TB assay containing Mtb-specific antigens ESAT-6 and CFP10 are widely used for immunodiagonsis of Mtb infection, but the high cost is one of the restricting factors against its clinical application in the developing countries...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28443202/dna-methylation-assay-for-colorectal-carcinoma
#14
Ji-Jun Chen, Ai-Qin Wang, Qing-Qi Chen
Colorectal carcinoma (CRC) is a common cause of morbidity and mortality worldwide. Two pathogenic pathways are involved in the development of adenoma to CRC. The first pathway involvesAPC/β-catenin characterized by chromosomal instability resulting in the accumulation of mutations. The second pathway is characterized by lesions inDNA mismatch repair genes. Aberrant DNA methylation in selected gene promoters has emerged as a new epigenetic pathway in CRC development. CRC screening is the most efficient strategy to reduce death...
February 2017: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/28442388/microbial-secretion-of-lactate-enriched-oligomers-for-efficient-conversion-into-lactide-a-biological-shortcut-to-polylactide
#15
Camila Utsunomia, Ken'ichiro Matsumoto, Sakiko Date, Chiaki Hori, Seiichi Taguchi
Recently, we have succeeded in establishing the microbial platform for the secretion of lactate (LA)-based oligomers (D-LAOs), which consist of D-LA and d-3-hydroxybutyrate (d-3HB). The secretory production of D-LAOs was substantially enhanced by the supplementation of diethylene glycol (DEG), which resulted in the generation of DEG-capped oligomers at the carboxyl terminal (referred as D-LAOs-DEG). The microbial D-LAOs should be key compounds for the synthesis of lactide, an important intermediate for polylactides (PLAs) production, eliminating the costly chemo-oligomerization step in the PLA production process...
April 22, 2017: Journal of Bioscience and Bioengineering
https://www.readbyqxmd.com/read/28442341/impact-of-a-general-practitioner-led-integrated-model-of-care-on-the-cost-of-potentially-preventable-diabetes-related-hospitalisations
#16
Samantha A Hollingworth, Maria Donald, Jianzhen Zhang, Bharat Phani Vaikuntam, Anthony Russell, Claire Jackson
AIM: To estimate potential savings for Australia's health care system through the implementation of an innovative Beacon model of care for patients with complex diabetes. METHODS: A prospective controlled trial was conducted comparing a multidisciplinary, community-based, integrated primary-secondary care diabetes service with usual care at a hospital diabetes outpatient clinic. We extracted patient hospitalisation data from the Queensland Hospital Admitted Patient Data Collection and used Australian Refined Diagnosis Related Groups to assign costs to potentially preventable hospitalisations for diabetes...
April 23, 2017: Primary Care Diabetes
https://www.readbyqxmd.com/read/28442328/simple-quick-and-cost-efficient-a-universal-rt-pcr-and-sequencing-strategy-for-genomic-characterisation-of-foot-and-mouth-disease-viruses
#17
V Dill, M Beer, B Hoffmann
Foot-and-mouth disease (FMD) is a major contributor to poverty and food insecurity in Africa and Asia, and it is one of the biggest threats to agriculture in highly developed countries. As FMD is extremely contagious, strategies for its prevention, early detection, and the immediate characterization of outbreak strains are of great importance. The generation of whole-genome sequences enables phylogenetic characterization, the epidemiological tracing of virus transmission pathways and is supportive in disease control strategies...
April 22, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28442239/roadmap-to-control-hbv-and-hdv-epidemics-in-china
#18
Ashish Goyal, John M Murray
PURPOSE: Hepatitis B virus (HBV) is endemic in China. Almost 10% of HBV infected individuals are also infected with hepatitis D virus (HDV) which has a 5-10 times higher mortality rate than HBV mono-infection. The aim of this manuscript is to devise strategies that can not only control HBV infections but also HDV infections in China under the current health care budget in an optimal manner. METHODS: Using a mathematical model, an annual budget of $10 billion was optimally allocated among five interventions namely, testing and HBV adult vaccination, treatment for mono-infected and dually-infected individuals, second line treatment for HBV mono-infections, and awareness programs...
April 22, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28442003/lipid-production-for-biodiesel-from-sludge-and-crude-glycerol
#19
Xiaolei Zhang, Jiaxin Chen, Song Yan, Rajeshwar Dayal Tyagi, Rao Y Surampalli, Ji Li
  Oleaginous yeast Trichosporon oleaginosus was studied for lipid production using municipal sludge with or without fortification of crude glycerol in a 15-L fermenter. The maximum lipid content (concentration) was 32.0% w/w (9.35 g/L), 33.6% (10.13 g/L), 33.3% (9.13 g/L), and 33.1% (9.03 g/L) w/w with the addition of 25, 50, 100, and 150 g/L glycerol, respectively. Glycerol concentration had little effect on lipid accumulation. However, glycerol concentration substantially affected increase of biomass concentration and cell count...
May 1, 2017: Water Environment Research: a Research Publication of the Water Environment Federation
https://www.readbyqxmd.com/read/28441633/a-health-intervention-or-a-kitchen-appliance-household-costs-and-benefits-of-a-cleaner-burning-biomass-fuelled-cookstove-in-malawi
#20
Katie Cundale, Ranjeeta Thomas, Jullita Kenala Malava, Deborah Havens, Kevin Mortimer, Lesong Conteh
Pneumonia is the leading cause of mortality for children under five years in sub-Saharan Africa. Household air pollution has been found to increase risk of pneumonia, especially due to exposure from dirty burning biomass fuels. It has been suggested that advanced stoves, which burn fuel more efficiently and reduce smoke emissions, may help to reduce household air pollution in poor, rural settings. This qualitative study aims to provide an insight into the household costs and perceived benefits from use of the stove in Malawi...
April 13, 2017: Social Science & Medicine
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