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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528510/immunogenomics-using-genomics-to-personalize-cancer-immunotherapy
#2
Rance C Siniard, Shuko Harada
While the use of genomic data has the potential to revolutionize patient care, there is still much work to be done with regard to the transformation of host-tumor interactions into favorable clinical outcomes for our patients. High-throughput technologies, such as next-generation sequencing (NGS), have rapidly advanced our understanding of oncology, and we are learning that most tumors do not simply possess consistently mutated genes that are responsible for tumorigenesis, facilitating the need for personalized cancer therapy...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28528452/tumor-suppressor-protein-p53-exerts-negative-transcriptional-regulation-on-human-sodium-iodide-symporter-gene-expression-in-breast-cancer
#3
Madhura G Kelkar, Bhushan Thakur, Abhishek Derle, Sushmita Chatterjee, Pritha Ray, Abhijit De
PURPOSE: Aberrant expression of human sodium iodide symporter (NIS) in breast cancer (BC) is well documented but the transcription factors (TF) regulating its aberrant expression is poorly known. We identify the presence of three p53 binding sites on the human NIS promoter sequence by conducting genome-wide TF analysis, and further investigate their regulatory role. METHODS: The differences in transcription and translation were measured by real-time PCR, luciferase reporter assay, site-directed mutagenesis, in vivo optical imaging, and chromatin immunoprecipitation...
May 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28528437/initial-contact-the-first-steps-in-herpesvirus-entry
#4
Walid Azab, Klaus Osterrieder
The entry process of herpesviruses into host cells is complex and highly variable. It involves a sequence of well-orchestrated events that begin with virus attachment to glycan-containing proteinaceous structures on the cell surface. This initial contact tethers virus particles to the cell surface and results in a cascade of molecular interactions, including the tight interaction of viral envelope glycoproteins to specific cell receptors. These interactions trigger intracellular signaling and finally virus penetration after fusion of the viral envelope with cellular membranes...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28528431/rapid-rest-stress-regadenoson-ungated-perfusion-cmr-for-detection-of-coronary-artery-disease-in-patients-with-atrial-fibrillation
#5
Erik T Bieging, I Haider, G Adluru, L Chang, P Suksaranjit, D Likhite, A Shaaban, L Jensen, B D Wilson, C J McGann, E DiBella
Cardiovascular magnetic resonance (CMR) perfusion has been established as a useful imaging modality for the detection of coronary artery disease (CAD). However, there are several limitations when applying standard, ECG-gated stress/rest perfusion CMR to patients with atrial fibrillation (AF). In this study we investigate an approach with no ECG gating and a rapid rest/stress perfusion protocol to determine its accuracy for detection of CAD in patients with AF. 26 patients with AF underwent a rapid rest/regadenoson stress CMR perfusion imaging protocol, and all patients had X-ray coronary angiography...
May 20, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28528429/myocardial-edema-in-acute-myocarditis-relationship-of-t2-relaxometry-and-late-enhancement-burden-by-using-dual-contrast-turbo-spin-echo-mri
#6
A Mayr, G Klug, H J Feistritzer, S J Reinstadler, M Reindl, R Esterhammer, G Feuchtner, B Metzler, M F Schocke
To quantify myocardial edema by using a T2 relaxometry approach with a dual-contrast turbo spin-echo (dcTSE) sequence in patients with acute myocarditis regarding focal late gadolinium enhancement (LGE) burden. CMR T2 relaxometry was performed in 39 patients (age 41 ± 19 years; 36% women) with LGE in a typical myocarditis pattern and in ten healthy volunteers (age 46 ± 12; 60% woman). dcTSE sequence (echo time 29 and 75 ms, respectively) was used for T2 mapping, analysis were performed on the basis of region of interest (ROI)...
May 20, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#7
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28528360/a-spiking-neural-network-model-of-the-midbrain-superior-colliculus-that-generates-saccadic-motor-commands
#8
Bahadir Kasap, A John van Opstal
Single-unit recordings suggest that the midbrain superior colliculus (SC) acts as an optimal controller for saccadic gaze shifts. The SC is proposed to be the site within the visuomotor system where the nonlinear spatial-to-temporal transformation is carried out: the population encodes the intended saccade vector by its location in the motor map (spatial), and its trajectory and velocity by the distribution of firing rates (temporal). The neurons' burst profiles vary systematically with their anatomical positions and intended saccade vectors, to account for the nonlinear main-sequence kinematics of saccades...
May 20, 2017: Biological Cybernetics
https://www.readbyqxmd.com/read/28528164/mri-derived-myocardial-strain-measures-in-normal-subjects
#9
Ha Q Vo, Thomas H Marwick, Kazuaki Negishi
OBJECTIVES: The aim of this study was to perform a systematic review and meta-analysis to estimate the normal ranges of magnetic resonance imaging (MRI)-based feature tracking (FT) and to identify sources of variations. Similar analyses were also performed for strain encoding, displacement encoding with stimulated echoes, and myocardial tagging. BACKGROUND: MRI-FT is a novel technique for quantification of myocardial deformation using MRI cine images. However, the reported 95% confidence intervals (CIs) from the 2 largest studies have no overlaps...
May 11, 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28528024/structure-diverse-phylomer-libraries-as-a-rich-source-of-bioactive-hits-from-phenotypic-and-target-directed-screens-against-intracellular-proteins
#10
REVIEW
Paul M Watt, Nadia Milech, Shane R Stone
Phylomers are peptides derived from biodiverse protein fragments. Genetically encoded Phylomer libraries have been constructed, containing hundreds of billions of peptides derived from virtually all of the few thousand fold families found in the protein universe. They offer a rich source of high quality hits against diverse target sequences and have been used for three main purposes: firstly, to identify and validate targets in phenotypic screens; secondly, to block protein interactions with nanomolar potency binding affinities; thirdly as a source of more efficient cell penetrating peptides for the delivery of a wide range of biologics...
May 18, 2017: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/28528020/optimal-hybrid-sequencing-and-assembly-feasibility-conditions-for-accurate-genome-reconstruction-and-cost-minimization-strategy
#11
Chun-Chi Chen, Noushin Ghaffari, Xiaoning Qian, Byung-Jun Yoon
Recent advances in high-throughput genome sequencing technologies have enabled the systematic study of various genomes by making whole genome sequencing affordable. Modern sequencers generate a huge number of small sequence fragments called reads, where the read length and the per-base sequencing cost depend on the technology used. To date, many hybrid genome assembly algorithms have been developed that can take reads from multiple read sources to reconstruct the original genome. However, rigorous investigation of the feasibility conditions for complete genome reconstruction and the optimal sequencing strategy for minimizing the sequencing cost has been conspicuously missing...
April 3, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28527998/molecular-cloning-and-structural-modelling-of-gamma-phospholipase-a2-inhibitors-from-bothrops-atrox-and-micrurus-lemniscatus-snakes
#12
Carina G Picelli, Rafael J Borges, Carlos A H Fernandes, Fabio M Matioli, Carla F C Fernandes, Juliana C Sobrinho, Rudson J Holanda, Luiz S Ozaki, Anderson M Kayano, Leonardo A Calderon, Marcos R M Fontes, Rodrigo G Stábeli, Andreimar M Soares
Phospholipases A2 inhibitors (PLIs) produced by venomous and non-venomous snakes play essential role in this resistance. These endogenous inhibitors may be classified by their fold in PLIα, PLIβ and PLIγ. Phospholipases A2 (PLA2s) develop myonecrosis in snake envenomation, a consequence that is not efficiently neutralized by antivenom treatment. This work aimed to identify and characterize two PLIs from Amazonian snake species, Bothrops atrox and Micrurus lemniscatus. Liver tissues RNA of specimens from each species were isolated and amplified by RT-PCR using PCR primers based on known PLIγ gene sequences, followed by cloning and sequencing of amplified fragments...
May 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28527989/the-effect-of-ph-on-the-bonding-of-cu-2-and-chitosan-montmorillonite-composite
#13
Chao Hu, Guoyuan Li, Yiyu Wang, Fengyi Li, Guangguang Guo, Hongqing Hu
Based on the contradict statements on the mechanisms of the bonding between metal ions and chitosan based adsorbent, this paper present studies on the Cu(2+) adsorption by the chitosan-montmorillonite composite. The in situ attenuated total reflectance Fourier transform infrared spectroscopy and two dimensional correlation analysis were used to record the spectra during the adsorption and the pH perturbation, and analyze the interaction sequence of the groups related to the adsorption, respectively. The results showed that the bonding with -NH3(+) might attribute the adsorption capacity greater than that with hydroxyl...
May 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28527917/spatial-distribution-of-vanadium-and-microbial-community-responses-in-surface-soil-of-panzhihua-mining-and-smelting-area-china
#14
Xuelong Cao, Muhe Diao, Baogang Zhang, Hui Liu, Song Wang, Meng Yang
Spatial distribution of vanadium in surface soils from different processing stages of vanadium-bearing titanomagnetite in Panzhihua mining and smelting area (China) as well as responses of microbial communities including bacteria and fungi to vanadium were investigated by fieldwork and laboratory incubation experiment. The vanadium contents in this region ranged from 149.3 to 4793.6 mg kg(-1), exceeding the soil background value of vanadium in China (82 mg kg(-1)) largely. High-throughput DNA sequencing results showed bacterial communities from different manufacturing locations were quite diverse, but Bacteroidetes and Proteobacteria were abundant in all samples...
May 17, 2017: Chemosphere
https://www.readbyqxmd.com/read/28527899/egfr-mutation-analysis-for-prospective-patient-selection-in-two-phase-ii-registration-studies-of-osimertinib
#15
Suzanne Jenkins, James Chih-Hsin Yang, Pasi A Jänne, Kenneth S Thress, Karen Yu, Rachel Hodge, Susie Weston, Simon Dearden, Sabina Patel, Mireille Cantarini, Frances A Shepherd
INTRODUCTION: Osimertinib is an oral, CNS active, epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) for the treatment of EGFR T790M-positive advanced non-small cell lung cancer (NSCLC). Here we evaluate EGFR mutation frequencies in two Phase II studies of osimertinib (AURA extension and AURA2). METHODS: Patients with EGFR mutation-positive advanced NSCLC provided tumor samples following progression on their latest line of therapy for mandatory central T790M testing for study selection criteria...
May 17, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28527892/outbreak-of-zika-virus-infection-in-singapore-an-epidemiological-entomological-virological-and-clinical-analysis
#16
(no author information available yet)
BACKGROUND: An outbreak of Zika virus infection was detected in Singapore in August, 2016. We report the first comprehensive analysis of a national response to an outbreak of Zika virus infection in Asia. METHODS: In the first phase of the outbreak, patients with suspected Zika virus infection were isolated in two national referral hospitals until their serum tested negative for the virus. Enhanced vector control and community engagement measures were deployed in disease clusters, including stepped-up mosquito larvicide and adulticide use, community participation in source reduction (destruction of mosquito breeding sites), and work with the local media to promote awareness of the outbreak...
May 17, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28527882/new-epidemiological-pattern-of-cutaneous-leishmaniasis-in-two-pre-saharan-arid-provinces-southern-morocco
#17
Mouad Ait Kbaich, Idriss Mhaidi, Abdelkacem Ezzahidi, Nouredine Dersi, Adil El Hamouchi, Myriam Riyad, Khadija Akarid, Meryem Lemrani
Three Leishmania species are responsible of cutaneous leishmaniasis (CL) in Morocco. Zoonotic CL due to Leishmania major and Leishmania infantum, the first is known as established in the eastern arid regions, whereas the latter evolves sporadically, especially in the North. While Leishmania tropica, classically considered anthroponotic, is endemic in the semi-arid regions and is largely distributed throughout the country. The aim of this study was to identify the Leishmania species causing CL in two Provinces in arid pre-Saharan region known as zoonotic CL foci, and to contribute an update to the national data concerning the distribution of Leishmania species in both regions...
May 17, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28527834/perceptions-of-seniors-with-heart-failure-regarding-autonomous-zero-effort-monitoring-of-physiological-parameters-in-the-smart-home-environment
#18
Sherry L Grace, Golnoush Taherzadeh, Isaac Sung Jae Chang, Jennifer Boger, Amaya Arcelus, Susanna Mak, Caroline Chessex, Alex Mihailidis
BACKGROUND: Technological advances are leading to the ability to autonomously monitor patient's health status in their own homes, to enable aging-in-place. OBJECTIVES: To understand the perceptions of seniors with heart failure (HF) regarding smart-home systems to monitor their physiological parameters. METHODS: In this qualitative study, HF outpatients were invited to a smart-home lab, where they completed a sequence of activities, during which the capacity of 5 autonomous sensing modalities was compared to gold standard measures...
May 17, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/28527793/prevalence-of-non-aureus-staphylococcus-species-causing-intramammary-infections-in-canadian-dairy-herds
#19
Larissa A Z Condas, Jeroen De Buck, Diego B Nobrega, Domonique A Carson, Sohail Naushad, Sarne De Vliegher, Ruth N Zadoks, John R Middleton, Simon Dufour, John P Kastelic, Herman W Barkema
Non-aureus staphylococci (NAS), the microorganisms most frequently isolated from bovine milk worldwide, are a heterogeneous group of numerous species. To establish their importance as a group, the distribution of individual species needs to be determined. In the present study, NAS intramammary infection (IMI) was defined as a milk sample containing ≥1,000 cfu/mL in pure or mixed culture that was obtained from a cohort of cows assembled by the Canadian Bovine Mastitis Research Network. Overall, 6,213 (6.3%) of 98,233 quarter-milk samples from 5,149 cows and 20,305 udder quarters were associated with an NAS IMI...
May 17, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28527728/the-patient-s-experience-of-amputation-due-to-peripheral-arterial-disease
#20
Eva Torbjörnsson, Carin Ottosson, Lena Blomgren, Lennart Boström, Ann-Mari Fagerdahl
It is not uncommon that patients with peripheral arterial disease (PAD) need to undergo a lower limb amputation, with or without previous revascularization attempts. Despite that, the patient's experience of the amputation has been scarcely studied. The aim of this qualitative study was to describe the patient's experience of amputation due to PAD. Thirteen interviews were conducted with vascular patients who had undergone a lower limb amputation at tibia, knee, or femoral level. Data were analyzed with content analysis...
June 2017: Journal of Vascular Nursing: Official Publication of the Society for Peripheral Vascular Nursing
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