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https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#1
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330641/characteristics-of-mutyh-variants-in-japanese-colorectal-polyposis-patients
#2
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yuhki Tada, Masakazu Kohda, Koichi Koizumi, Shin-Ichiro Horiguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis...
January 12, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29330454/dynamic-malaria-hotspots-in-an-open-cohort-in-western-kenya
#3
Alyssa Platt, Andrew A Obala, Charlie MacIntyre, Barasa Otsyula, Wendy Prudhomme O' Meara
Malaria hotspots, defined as areas where transmission intensity exceeds the average level, become more pronounced as transmission declines. Targeting hotspots may accelerate reductions in transmission and could be pivotal for malaria elimination. Determinants of hotspot location, particularly of their movement, are poorly understood. We used spatial statistical methods to identify foci of incidence of self-reported malaria in a large census population of 64,000 people, in 8,290 compounds over a 2.5-year study period...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330182/fluorescence-recovery-allows-the-implementation-of-a-fluorescence-reporter-gene-platform-applicable-for-the-detection-and-quantification-of-horizontal-gene-transfer-in-anoxic-environments
#4
Rafael Pinilla, Leise Riber, Søren J Sørensen
The study of horizontal gene transfer (HGT) in microbial communities has been revolutionized by significant advances in cultivation-independent methods based on fluorescence reporter gene technologies. Recently, the combination of these novel approaches with flow cytometry has presented itself as one of the most powerful tools to study the spread of mobile genetic elements (MGEs) in the environment. However, the use of fluorescent markers like green fluorescent protein (GFP) and mCherry is limited by environmental constraints that affect the correct maturation of their fluorophores, such as oxygen availability and pH levels...
January 12, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29329991/dynamic-contrast-enhanced-eus-for-quantification-of-tumor-perfusion-in-colonic-cancer-a-prospective-cohort-study
#5
Marie Louise Malmstrøm, Adrian Săftoiu, Lene B Riis, Hazem Hassan, Tobias W Klausen, Mikkel S Rahbek, Ismail Gögenur, Peter Vilmann
BACKGROUND AND AIMS: Dynamic contrast enhanced endoscopic ultrasound (CE-EUS) for quantification of perfusion in colonic tumors has not previously been reported in the literature. The aim of the study was to investigate correlations between perfusion parameters and vessel density assessed by immunohistochemical staining with antibodies toward CD31 and CD105. METHODS: We conducted a prospective clinical study. In total, 28 patients with left-sided colonic adenocarcinoma, underwent CE-EUS and left-sided hemicolectomy within 2 weeks...
January 9, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29329657/the-development-and-trial-of-an-unmanned-aerial-system-for-the-measurement-of-methane-flux-from-landfill-and-greenhouse-gas-emission-hotspots
#6
Grant Allen, Peter Hollingsworth, Khristopher Kabbabe, Joseph R Pitt, Mohammed I Mead, Samuel Illingworth, Gareth Roberts, Mark Bourn, Dudley E Shallcross, Carl J Percival
This paper describes the development of a new sampling and measurement method to infer methane flux using proxy measurements of CO2 concentration and wind data recorded by Unmanned Aerial Systems (UAS). The flux method described and trialed here is appropriate to the spatial scale of landfill sites and analogous greenhouse gas emission hotspots, making it an important new method for low-cost and rapid case study quantification of fluxes from currently uncertain (but highly important) greenhouse gas sources...
January 9, 2018: Waste Management
https://www.readbyqxmd.com/read/29329326/utilization-of-peptide-phage-display-to-investigate-hotspots-on-il-17a-and-what-it-means-for-drug-discovery
#7
Joey P Ting, Frances Tung, Stephen Antonysamy, Stephen Wasserman, Spencer B Jones, Feiyu F Zhang, Alfonso Espada, Howard Broughton, Michael J Chalmers, Michael E Woodman, Holly A Bina, Jeffrey A Dodge, Jordi Benach, Aiping Zhang, Christopher Groshong, Danalyn Manglicmot, Marijane Russell, Sepideh Afshar
To date, IL-17A antibodies remain the only therapeutic approach to correct the abnormal activation of the IL-17A/IL-17R signaling complex. Why is it that despite the remarkable success of IL-17 antibodies, there is no small molecule antagonist of IL-17A in the clinic? Here we offer a unique approach to address this question. In order to understand the interaction of IL-17A with its receptor, we combined peptide discovery using phage display with HDX, crystallography, and functional assays to map and characterize hot regions that contribute to most of the energetics of the IL-17A/IL-17R interaction...
2018: PloS One
https://www.readbyqxmd.com/read/29329301/estimated-mortality-on-hiv-treatment-among-active-patients-and-patients-lost-to-follow-up-in-4-provinces-of-zambia-findings-from-a-multistage-sampling-based-survey
#8
Charles B Holmes, Izukanji Sikazwe, Kombatende Sikombe, Ingrid Eshun-Wilson, Nancy Czaicki, Laura K Beres, Njekwa Mukamba, Sandra Simbeza, Carolyn Bolton Moore, Cardinal Hantuba, Peter Mwaba, Caroline Phiri, Nancy Padian, David V Glidden, Elvin Geng
BACKGROUND: Survival represents the single most important indicator of successful HIV treatment. Routine monitoring fails to capture most deaths. As a result, both regional assessments of the impact of HIV services and identification of hotspots for improvement efforts are limited. We sought to assess true mortality on treatment, characterize the extent under-reporting of mortality in routine health information systems in Zambia, and identify drivers of mortality across sites and over time using a multistage, regionally representative sampling approach...
January 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29329243/characteristics-of-beidou-navigation-satellite-system-multipath-and-its-mitigation-method-based-on-kalman-filter-and-rauch-tung-striebel-smoother
#9
Qiuzhao Zhang, Wei Yang, Shubi Zhang, Xin Liu
Global Navigation Satellite System (GNSS) carrier phase measurement for short baseline meets the requirements of deformation monitoring of large structures. However, the carrier phase multipath effect is the main error source with double difference (DD) processing. There are lots of methods to deal with the multipath errors of Global Position System (GPS) carrier phase data. The BeiDou navigation satellite System (BDS) multipath mitigation is still a research hotspot because the unique constellation design of BDS makes it different to mitigate multipath effects compared to GPS...
January 12, 2018: Sensors
https://www.readbyqxmd.com/read/29328652/trade-induced-atmospheric-mercury-deposition-over-china-and-implications-for-demand-side-controls
#10
Long Chen, Jing Meng, Sai Liang, Haoran Zhang, Wei Zhang, Maodian Liu, Yindong Tong, Huanhuan Wang, Wei Wang, Xuejun Wang, Jiong Shu
Mercury (Hg) is of global concern because of its adverse effects on humans and the environment. In addition to long-range atmospheric transport, Hg emissions can be geographically relocated through economic trade. Here, we investigate the effect of China's interregional trade on atmospheric Hg deposition over China, using an atmospheric transport model and multiregional input-output analysis. In general, total atmospheric Hg deposition over China is 408.8 Mg yr-1, and 32% of this is embodied in China's interregional trade, with the hotspots occurring over Gansu, Henan, Hebei, and Yunnan provinces...
January 12, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29328538/conflict-between-heterozygote-advantage-and-hybrid-incompatibility-in-haplodiploids-and-sex-chromosomes
#11
Ana-Hermina Ghenu, Alexandre Blanckaert, Roger K Butlin, Jonna Kulmuni, Claudia Bank
In many diploid species the sex chromosomes play a special role in mediating reproductive isolation. In haplodiploids, where females are diploid and males haploid, the whole genome behaves similarly to the X/Z chromosomes of diploids. Therefore, haplodiploid systems can serve as a model for the role of sex chromosomes in speciation and hybridization. A previously described population of Finnish Formica wood ants displays genome-wide signs of ploidally and sexually antagonistic selection resulting from hybridization...
January 12, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29327504/self-assembled-2d-nanoparticles-arrays-of-interfacial-self-assembled-large-scale-densely-packed-monolayer-film-with-ligand-exchanged-au-nanorods-for-in-situ-sers-drugs-detection
#12
Liangbao Yang, Mei Mao, Binbin Zhou, Xianghu Tang, Cheng Chen, Meihong Ge, Pan Li, Xingjiu Huang, Jinhuai Liu
Construction of large area ordered anisotropic nanoparticles monolayer and acquisition of self-assembled interface film are still significant challenges. In this work, we have developed a rapid and valid method to fabricate large-scale close packed nanomaterials at the cyclohexane/water interface in which hydrophilic cetyltrimethylammonium bromide (CTAB) coated nanoparticles, Au nanorods (AuNRs), self-assembled into densely packed two dimensional (2D) arrays by regulating the surface ligand and suitable inducer...
January 11, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29327274/first-line-therapy-for-advanced-non-small-cell-lung-cancer-with-activating-egfr-mutation-is-combined-egfr-tkis-and-chemotherapy-a-better-choice
#13
REVIEW
Shuyun Wang, Aiqin Gao, Jie Liu, Yuping Sun
As the standard first-line treatment for advanced non-small cell lung cancer (NSCLC) with activating epidermal growth factor receptor (EGFR) mutation, EGFR-tyrosine kinase inhibitors (EGFR-TKIs) have significantly improved the median progression-free survival (PFS) up to 18.9 months. However, almost all patients eventually develop acquired resistance to EGFR-TKIs, which limits the first-line PFS. To overcome the resistance and improve overall survival, researchers have tried to identify the resistance mechanisms and develop new treatment strategies, among which a combination of EGFR-TKIs and cytotoxic chemotherapy is one of the hotspots...
January 11, 2018: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29325149/anatomy-of-a-hotspot-chain-and-seroepidemiology-of-ebola-virus-transmission-sukudu-sierra-leone-2015-16
#14
J Daniel Kelly, Mohamed Bailor Barrie, Annelies W Mesman, Sahr Karku, Komba Quiwa, Michael Drasher, Gabriel Warren Slough, Kerry Dierberg, Songor Koedoyoma, Christina P Lindan, James Holland Jones, Gabriel Chamie, Lee Worden, Bryan Greenhouse, Sheri D Weiser, Travis C Porco, George W Rutherford, Eugene T Richardson
Studies have yet to include minimally symptomatic Ebola virus (EBOV) infections and unrecognized Ebola virus disease (EVD) in Ebola-related transmission chains and epidemiologic risk estimates. We conducted a cross-sectional, sero-epidemiological survey from October 2015 to January 2016 among 221 individuals living in quarantined households from November 2014 to February 2015 during the Ebola outbreak in the village of Sukudu, Sierra Leone. Of 48 EBOV infected-persons, 25% (95%CI, 14-40%) had minimally symptomatic EBOV infections and 4% (95%CI, 1-14%) were unrecognized EVD cases...
January 9, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29325035/amplicon-based-next-generation-sequencing-of-plasma-cell-free-dna-for-detection-of-driver-and-resistance-mutations-in-advanced-non-small-cell-lung-cancer
#15
N Guibert, Y Hu, N Feeney, Y Kuang, V Plagnol, G Jones, K Howarth, J F Beeler, C P Paweletz, G R Oxnard
Background: Genomic analysis of plasma cell-free DNA is transforming lung cancer care, however available assays are limited by cost, turnaround time, and imperfect accuracy. Here we study amplicon-based plasma next-generation sequencing (NGS), rather than hybrid-capture-based plasma NGS, hypothesizing this would allow sensitive detection and monitoring of driver and resistance mutations in advanced non-small cell lung cancer (NSCLC). Methods: Plasma samples from patients with NSCLC and a known targetable genotype (EGFR, ALK/ROS1 and other rare genotypes) were collected while on therapy and analyzed, blinded to tumor genotype...
January 9, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29324743/an-enhanced-artificial-bee-colony-algorithm-eabc-for-solving-dispatching-of-hydro-thermal-system-dhts-problem
#16
Yi Yu, Yonggang Wu, Binqi Hu, Xinglong Liu
The dispatching of hydro-thermal system is a nonlinear programming problem with multiple constraints and high dimensions and the solution techniques of the model have been a hotspot in research. Based on the advantage of that the artificial bee colony algorithm (ABC) can efficiently solve the high-dimensional problem, an improved artificial bee colony algorithm has been proposed to solve DHTS problem in this paper. The improvements of the proposed algorithm include two aspects. On one hand, local search can be guided in efficiency by the information of the global optimal solution and its gradient in each generation...
2018: PloS One
https://www.readbyqxmd.com/read/29323541/development-of-a-targeted-next-generation-sequencing-assay-to-detect-diagnostically-relevant-mutations-of-jak2-calr-and-mpl-in-myeloproliferative-neoplasms
#17
Thomas Frawley, Cathal P O'Brien, Eibhlin Conneally, Elisabeth Vandenberghe, Melanie Percy, Stephen E Langabeer, Karl Haslam
BACKGROUND: The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heterogeneous group of neoplasms that harbor driver mutations in the JAK2, CALR, and MPL genes. The detection of these mutations has been incorporated into the recent World Health Organization (WHO) diagnostic criteria for MPN. Given a pressing clinical need to screen for these mutations in a routine diagnostic setting, a targeted next-generation sequencing (NGS) assay for the detection of MPN-associated mutations located in JAK2 exon 14, JAK2 exon 12, CALR exon 9, and MPL exon 10 was developed to provide a single platform alternative to reflexive, stepwise diagnostic algorithms...
January 11, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29322773/sers-based-label-free-insulin-detection-at-physiological-concentrations-for-analysis-of-islet-performance
#18
Hyunjun Cho, Shailabh Kumar, Daejong Yang, Sagar R Vaidyanathan, Kelly Woo, Ian Garcia, Hao Jan Shue, Youngzoon Yoon, Kevin Ferreri, Hyuck Choo
Label-free optical detection of insulin would allow in vitro assessment of pancreatic cell functions in their natural state and expedite diabetes-related clinical research and treatment, however no existing method has met these criteria at physiological concentrations. Using spatially-uniform 3D gold-nanoparticle sensors, we have demonstrated surface-enhanced Raman sensing of insulin in the secretions from human pancreatic islets under low and high glucose environments without the use of labels such as antibodies or aptamers...
January 11, 2018: ACS Sensors
https://www.readbyqxmd.com/read/29322101/a-novel-individual-level-morphological-brain-networks-constructing-method-and-its-evaluation-in-pet-and-mr-images
#19
Jiehui Jiang, Hucheng Zhou, Huoqiang Duan, Xin Liu, Chuantao Zuo, Zhemin Huang, Zhihua Yu, Zhuangzhi Yan
Mapping the human brain is one of the great scientific challenges of the 21st century. Brain network analysis is an effective technique based on graph theory that is widely used to investigate network patterns in the human brain. Currently, mapping an individual brain network using a single image has been a hotspot in the field of brain science; techniques, such as the Kullback-Leibler (KL) method, have applications in structural Magnetic Resonance (MR) imaging. However, maintaining an image's intensity, shape, texture and gradient information during feature extraction is very challenging...
December 2017: Heliyon
https://www.readbyqxmd.com/read/29321718/a-novel-notch1-missense-mutation-c1133y-in-the-abruptex-domain-exhibits-enhanced-proliferation-and-invasion-in-oral-squamous-cell-carcinoma
#20
Yang Zheng, Zhao Wang, Xu Ding, Wei Zhang, Gang Li, Laikui Liu, Heming Wu, Wenyi Gu, Yunong Wu, Xiaomeng Song
Background: Notch1 has been regarded as a fundamental regulator in tissue differentiation and stem cell properties. Recently, Notch1 mutations have been reported intensively both in solid tumors and in hematopoietic malignancies. However, little is known about the biological effect and the clinical implication of these reported mutations. Previously, we discovered several missense mutations in the Notch1 receptor in a Chinese population with oral squamous cell carcinoma (OSCC). Methods: We selected a 'hotspot' mutation in the Abruptex domain (C1133Y)...
2018: Cancer Cell International
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