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https://www.readbyqxmd.com/read/27914472/the-response-to-receiving-phenotypic-and-genetic-coronary-heart-disease-risk-scores-and-lifestyle-advice-a-qualitative-study
#1
Guy Shefer, Barbora Silarova, Juliet Usher-Smith, Simon Griffin
BACKGROUND: Individuals routinely receive information about their risk of coronary heart disease (CHD) based on traditional risk factors as part of their primary care. We are also able to calculate individual's risk of CHD based on their genetic information and at present genetic testing for common diseases is available to the public. Due to the limitations in previous studies further understanding is needed about the impact of the risk information on individual's well-being and health-behaviour...
December 3, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27913528/mutations-in-mpns-prognostic-implications-window-to-biology-and-impact-on-treatment-decisions
#2
Jamile M Shammo, Brady L Stein
The last decade has witnessed tremendous scientific advances, ushered in by the JAK2 V617F discovery, contributing to enhanced diagnostic capability and understanding of the biology of myeloproliferative neoplasms (MPNs). Discovery of the calreticulin mutations filled a diagnostic gap; more recent work sheds light on its contribution to disease pathogenesis, and prognosis. Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF). Especially in MF, the driver mutational profile has prognostic implications, with additive contributions from the acquisition of additional somatic mutations...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27908180/a-novel-approach-to-evaluate-spatial-resolution-of-mri-clinical-images-for-optimization-and-standardization-of-breast-screening-protocols
#3
Marco Borri, Erica D Scurr, Cheryl Richardson, Marianne Usher, Martin O Leach, Maria A Schmidt
PURPOSE: Stringent quality assurance is required in MRI breast screening to ensure that different scanners and imaging protocols reach similar diagnostic performance. The authors propose a methodology, based on power spectrum analysis (PSA), to evaluate spatial resolution in clinical images. To demonstrate this approach, the authors have retrospectively compared two MRI sequences commonly employed in breast screening. METHODS: In a novel approach to PSA, spatial frequency response curves (SFRCs) were extracted from the images...
December 2016: Medical Physics
https://www.readbyqxmd.com/read/27887974/perusal-of-parasitic-nematode-omics-in-the-post-genomic-era
#4
Jonathan D Stoltzfus, Adeiye A Pilgrim, De'Broski R Herbert
The advent of high-throughput, next-generation sequencing methods combined with advances in computational biology and bioinformatics have greatly accelerated discovery within biomedical research. This "post-genomics" era has ushered in powerful approaches allowing one to quantify RNA transcript and protein abundance for every gene in the genome - often for multiple conditions. Herein, we chronicle how the post-genomics era has advanced our overall understanding of parasitic nematodes through transcriptomics and proteomics and highlight some of the important advances made in each major nematode clade...
November 22, 2016: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/27878918/survey-of-antipsychotic-medication-curriculum-content-in-australian-university-nursing-programmes
#5
Paul Morrison, Norman J Stomski, Margaret McAllister, Dianne Wynaden, Catherine Hungerford, Kim Usher, Phil Maude, Andrew Crowther, Robert Batterbee
Antipsychotic medication has long been one of the first-line interventions for people with serious mental illness, with outcomes including reductions in symptoms and relapse rates. More recently, however, questions have been raised about the efficacy of antipsychotic medications, especially in light of their side-effect profile. Such questions have implications for the nurses administering antipsychotic medications, particularly in relation to their knowledge of the antipsychotic medication, its efficacy, and side-effect profile...
November 23, 2016: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/27878188/organic-inorganic-perovskite-plasmonic-nanowire-lasers-with-a-low-threshold-and-a-good-thermal-stability
#6
Haichao Yu, Kuankuan Ren, Qiang Wu, Jian Wang, Jie Lin, Zhijie Wang, Jingjun Xu, Rupert F Oulton, Shengchun Qu, Peng Jin
Plasmonic nanolasers have ushered in a paradigm of deep sub-wavelength coherent optical sources with ultrafast dynamics that exploit the strong confinement capabilities of metals. Although these devices are usually associated with higher thresholds due to absorption in metals, the high gain inorganic II-VI and III-V semiconductor materials have allowed the realization of plasmonic nanolasers operating under ambient conditions. In this work, we introduce single-crystalline lead halide perovskite (CH3NH3PbI3) nanowires as an organic-inorganic semiconducting gain material to the plasmonic laser community...
December 1, 2016: Nanoscale
https://www.readbyqxmd.com/read/27873078/advances-in-decoding-breast-cancer-brain-metastasis
#7
Chenyu Zhang, Dihua Yu
The past decade has witnessed impressive advances in cancer treatment ushered in by targeted and immunotherapies. However, with significantly prolonged survival, upon recurrence, more patients become inflicted by brain metastasis, which is mostly refractory to all currently available therapeutic regimens. Historically, brain metastasis is an understudied area in cancer research, partly due to the dearth of appropriate experimental models that closely simulate the special biological features of metastasis in the unique brain environment and to the sophistication of techniques required to perform in-depth studies of the extremely complex and challenging brain metastasis...
November 21, 2016: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/27872819/diagnosis-of-a-mild-peroxisomal-phenotype-with-next-generation-sequencing
#8
Meredith J Ventura, Dianna Wheaton, Mingchu Xu, David Birch, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Annette E Whitney, Richard O Jones, Ann B Moser, Rui Chen, Michael F Wangler
Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27870686/era-of-a-single-population-based-payment-to-a-cancer-center-delivering-the-value-of-interventional-oncology-in-accountable-care-organizations
#9
Jemianne B Jia, Riccardo Lencioni, Howard P Forman, Hyun S Kim
To curtail increasing health care costs, the government has ushered in the era of the Accountable care organization (ACO). The purposes of this review are to evaluate the effects the ACO will have on the practice of interventional oncology and its role in cancer care and to explore methods to assimilate. Proposed action points include integration into the modern-day cancer center, adoption of an outpatient clinic, mandatory performance measures, and workflow and cost analysis. If adaptations are made, interventional oncology can continue its role in cancer treatment, will provide more effective care, and reach more patients in the new ACO...
November 2016: Cancer Journal
https://www.readbyqxmd.com/read/27868365/the-salience-of-the-self-self-referential-processing-and-internalizing-problems-in-children-and-adolescents-with-autism-spectrum-disorder
#10
Catherine A Burrows, Lauren V Usher, Peter C Mundy, Heather A Henderson
Children and adolescents with autism spectrum disorder (ASD) demonstrate atypical processing of, and memory for, self-referenced information, which may contribute to the heightened rates of co-occurring internalizing problems. We assessed affective and cognitive aspects of self-referential processing in verbally-fluent children with ASD (N = 79), and an age-matched comparison sample (COM, N = 73) of children without an autism diagnosis. We examined group differences in these two aspects of the self-system, and their joint contributions to individual differnces in internalizing problems...
November 20, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27864321/atg8-family-lc3-gabarap-proteins-are-crucial-for-autophagosome-lysosome-fusion-but-not-autophagosome-formation-during-pink1-parkin-mitophagy-and-starvation
#11
Thanh Ngoc Nguyen, Benjamin Scott Padman, Joanne Usher, Viola Oorschot, Georg Ramm, Michael Lazarou
Members of the Atg8 family of proteins are conjugated to autophagosomal membranes, where they have been proposed to drive autophagosome formation and selective sequestration of cargo. In mammals, the Atg8 family consists of six members divided into the LC3 and GABARAP subfamilies. To define Atg8 function, we used genome editing to generate knockouts of the LC3 and GABARAP subfamilies as well as all six Atg8 family members in HeLa cells. We show that Atg8s are dispensable for autophagosome formation and selective engulfment of mitochondria, but essential for autophagosome-lysosome fusion...
November 18, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#12
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#13
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27860289/breaking-rad-an-evaluation-of-the-utility-of-restriction-site-associated-dna-sequencing-for-genome-scans-of-adaptation
#14
David B Lowry, Sean Hoban, Joanna L Kelley, Katie E Lotterhos, Laura K Reed, Michael F Antolin, Andrew Storfer
Understanding how and why populations evolve is of fundamental importance to molecular ecology. RADseq (Restriction site-Associated DNA sequencing), a popular reduced representation method, has ushered in a new era of genome-scale research for assessing population structure, hybridization, demographic history, phylogeography, and migration. RADseq has also been widely used to conduct genome scans to detect loci involved in adaptive divergence among natural populations. Here, we examine the capacity of those RADseq-based genome scan studies to detect loci involved in local adaptation...
November 12, 2016: Molecular Ecology Resources
https://www.readbyqxmd.com/read/27855828/priming-can-affect-naming-colours-using-the-study-test-procedure-revealing-the-role-of-task-conflict
#15
Dinkar Sharma
The Stroop paradigm has been widely used to study attention whilst its use to explore implicit memory have been mixed. Using the non-colour word Stroop task we tested contrasting predictions from the proactive-control/task-conflict model (Kalanthroff, Avnit, Henik, Davelaar & Usher, 2015) that implicate response conflict and task conflict for the priming effects. Using the study-test procedure 60 native English speakers were tested to determine whether priming effects from words that had previously been studied would cause interference when presented in a colour naming task...
November 14, 2016: Acta Psychologica
https://www.readbyqxmd.com/read/27845911/deciphering-the-link-between-pi3k-and-pak-an-opportunity-to-target-key-pathways-in-pancreatic-cancer
#16
REVIEW
Kiruthikah Thillai, Hoyin Lam, Debashis Sarker, Claire M Wells
The development of personalised therapies has ushered in a new and exciting era of cancer treatment for a variety of solid malignancies. Yet pancreatic ductal adenocarcinoma (PDAC) has failed to benefit from this paradigm shift, remaining notoriously refractory to targeted therapies. Chemotherapy is the cornerstone of management but can offer only modest survival benefits of a few months with 5-year survival rates rarely exceeding 3%. Despite these disappointing statistics, significant strides have been made towards understanding the complex biology of pancreatic cancer, with deep genomic sequencing identifying novel genetic aberrations and key signalling pathways...
November 11, 2016: Oncotarget
https://www.readbyqxmd.com/read/27836652/intracranial-vessel-wall-imaging-for-evaluation-of-steno-occlusive-diseases-and-intracranial-aneurysms
#17
REVIEW
Waleed Brinjikji, Mahmud Mossa-Basha, John Huston, Alejandro A Rabinstein, Giuseppe Lanzino, Vance T Lehman
Cerebrovascular diseases have traditionally been classified, diagnosed and managed based on their luminal characteristics. However, over the past several years, several advancements in MRI techniques have ushered in high-resolution vessel wall imaging (HR-VWI), enabling evaluation of intracranial vessel wall pathology. These advancements now allow us to differentiate diseases which have a common angiographic appearance but vastly different natural histories (i.e. moyamoya versus atherosclerosis, reversible cerebral vasoconstriction syndrome versus vasculitis, stable versus unstable intracranial aneurysms)...
November 8, 2016: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/27833619/translating-the-banana-genome-to-delineate-stress-resistance-dwarfing-parthenocarpy-and-mechanisms-of-fruit-ripening
#18
REVIEW
Prasanta K Dash, Rhitu Rai
Evolutionary frozen, genetically sterile and globally iconic fruit "Banana" remained untouched by the green revolution and, as of today, researchers face intrinsic impediments for its varietal improvement. Recently, this wonder crop entered the genomics era with decoding of structural genome of double haploid Pahang (AA genome constitution) genotype of Musa acuminata. Its complex genome decoded by hybrid sequencing strategies revealed panoply of genes and transcription factors involved in the process of sucrose conversion that imparts sweetness to its fruit...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27832665/cell-of-origin-of-glioma-biological-and-clinical-implications
#19
Sheila R Alcantara Llaguno, Luis F Parada
The cellular origin of gliomas remains a topic of controversy in cancer research. Advances in neurobiology, molecular genetics, and functional genomics have ushered new insights through exploiting the development of more sophisticated tools to address this question. Diverse distinct cell populations in the adult brain have been reported to give rise to gliomas, although how these studies relate physiologically to mechanisms of spontaneous tumour formation via accumulation of tumour-initiating mutations within a single cell are less well developed...
November 10, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27830812/ageing-neurodegeneration-and-brain-rejuvenation
#20
Tony Wyss-Coray
Although systemic diseases take the biggest toll on human health and well-being, increasingly, a failing brain is the arbiter of a death preceded by a gradual loss of the essence of being. Ageing, which is fundamental to neurodegeneration and dementia, affects every organ in the body and seems to be encoded partly in a blood-based signature. Indeed, factors in the circulation have been shown to modulate ageing and to rejuvenate numerous organs, including the brain. The discovery of such factors, the identification of their origins and a deeper understanding of their functions is ushering in a new era in ageing and dementia research...
November 9, 2016: Nature
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