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https://www.readbyqxmd.com/read/28822769/somatic-mutation-analysis-in-melanoma-using-targeted-next-generation-sequencing
#1
Allen P Miraflor, Francine B de Abreu, Jason D Peterson, Scott A Turner, Christopher I Amos, Gregory J Tsongalis, Shaofeng Yan
Advanced stage malignant melanoma often responds poorly to therapy with low survival rates. New therapeutic approaches are based upon a growing understanding of the underlying molecular abnormalities. We demonstrate the feasibility of a next generation sequencing (NGS) assay, which targets hotspots in 50 cancer genes, to assess genotypes that may influence therapeutic selection and response. DNA was extracted from formalin fixed paraffin embedded (FFPE) melanoma specimens to create multiplexed libraries which were sequenced...
August 16, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28822382/the-use-of-fluorescence-angiography-for-confirmation-of-hemorrhoid-dearterialization
#2
Jacquelyn Turner, Nishant Sharma, Ayana Chase, Clarence E Clark
No abstract text is available yet for this article.
August 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28822253/clout-or-doubt-perspectives-on-an-infant-mental-health-service-for-young-children-placed-in-foster-care-due-to-abuse-and-neglect
#3
Fiona Turner-Halliday, Gary Kainth, Genevieve Young-Southward, Richard Cotmore, Nicholas Watson, Lynn McMahon, Helen Minnis
Despite knowledge about the profound effects of child abuse and neglect, we know little about how best to assess whether maltreated children should return home. The effectiveness of the New Orleans Intervention Model (NIM) is being tested in a randomized controlled trial where the comparison is social work 'services as usual.' The future trial results will tell us which approach produces the best outcomes for children; meanwhile qualitative process evaluation is generating intriguing findings about the perceived impact of NIM on decision-making about childrens' futures...
August 16, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#4
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28820988/integrating-printed-microfluidics-with-silicon-photomultipliers-for-miniaturised-and-highly-sensitive-atp-bioluminescence-detection
#5
M F Santangelo, S Libertino, A P F Turner, D Filippini, W C Mak
Bioluminescence has been widely used for important biosensing applications such as the measurement of adenosine triphosphate (ATP), the energy unit in biological systems and an indicator of vital processes. The current technology for detection is mainly based on large equipment such as readers and imaging systems, which require intensive and time-consuming procedures. A miniaturised bioluminescence sensing system, which would allow sensitive and continuous monitoring of ATP, with an integrated and low-cost disposable microfluidic chamber for handling of biological samples, is highly desirable...
July 27, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28819111/community-outbreaks-of-group-a-streptococcus-revealed-by-genome-sequencing
#6
Claire E Turner, Luke Bedford, Nicholas M Brown, Kim Judge, M Estée Török, Julian Parkhill, Sharon J Peacock
The frequent occurrence of disease outbreaks in humans caused by group A Streptococcus (GAS) is an on-going public health threat. Conventional bacterial typing methods lack the discriminatory power to confidently confirm or refute outbreaks in hospital and community settings. Microbial whole genome sequencing (WGS) provides a potential solution to this, but, there has been limited population-based surveillance with accompanying sequence data. We performed retrospective genomic surveillance of 93 clinical GAS isolates from individuals in a defined geographic region...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819046/tuberculous-tales-an-east-london-experience
#7
REVIEW
Apeksha M Shah, Dominika Raciborska, Matthew Stevens, Sharmilee Gnanapavan, Veronica L C White, Benjamin Turner
Tuberculous meningitis presents a diagnostic and therapeutic challenge, and considering its long history and increasing global incidence, the evidence base for its treatment is relatively scanty. Many UK neurologists will have little first-hand experience of this deadly condition, and if faced with a patient with possible tuberculous meningitis will find decision making less than straightforward. In parts of East London (UK) the rates of tuberculosis and tuberculous meningitis are among the highest in Western Europe, and so the neurologists and respiratory physicians at the Royal London Hospital have encountered many such patients over the years...
August 17, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28818972/fertile-offspring-from-sterile-sex-chromosome-trisomic-mice
#8
Takayuki Hirota, Hiroshi Ohta, Benjamin E Powell, Shantha K Mahadevaiah, Obah A Ojarikre, Mitinori Saitou, James M A Turner
Having the correct number of chromosomes is vital for normal development and health. Sex chromosome trisomy (SCT) affects 0.1% of the human population and is associated with infertility. We show that during reprogramming to induced pluripotent stem cells (iPSC), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome, by a phenomenon we term trisomy-biased chromosome loss (TCL). Resulting euploid XY iPSCs can be differentiated into the male germ cell lineage and functional sperm that can be used in intracytoplasmic sperm injection to produce chromosomally normal, fertile offspring...
August 17, 2017: Science
https://www.readbyqxmd.com/read/28818672/glutathione-monoethyl-ester-prevents-tdp-43-pathology-in-motor-neuronal-nsc-34%C3%A2-cells
#9
Tong Chen, Bradley J Turner, Philip M Beart, Lucy Sheehan-Hennessy, Chinasom Elekwachi, Hakan Muyderman
Oxidative stress is recognised as central in a range of neurological diseases including Amyotrophic lateral sclerosis (ALS), a disease characterised by fast progressing death of motor neurons in the brain and spinal cord. Cellular pathology includes cytosolic protein aggregates in motor neurons and glia of which potentially cytotoxic hyper-phosphorylated fragments of the Transactive response DNA Binding Protein 43 kDa (TDP-43) constitute a major component. This is closely associated with an additional loss of nuclear TDP-43 expression indicating a "loss of function" mechanism, accelerating motor neuron (MN) loss...
August 14, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28818098/sex-chromosomes-drive-gene-expression-and-regulatory-dimorphisms-in-mouse-embryonic-stem-cells
#10
Rachael J Werner, Bryant M Schultz, Jacklyn M Huhn, Jaroslav Jelinek, Jozef Madzo, Nora Engel
BACKGROUND: Pre-implantation embryos exhibit sexual dimorphisms in both primates and rodents. To determine whether these differences reflected sex-biased expression patterns, we generated transcriptome profiles for six 40,XX, six 40,XY, and two 39,X mouse embryonic stem (ES) cells by RNA sequencing. RESULTS: We found hundreds of coding and non-coding RNAs that were differentially expressed between male and female cells. Surprisingly, the majority of these were autosomal and included RNA encoding transcription and epigenetic and chromatin remodeling factors...
August 17, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28817288/in-silico-modeling-approach-for-the-evaluation-of-gastrointestinal-dissolution-supersaturation-and-precipitation-of-posaconazole
#11
Bart Hens, Shriram M Pathak, Amitava Mitra, Nikunjkumar Patel, Bo Liu, Sanjaykumar Patel, Masoud Jamei, Joachim Brouwers, Patrick Augustijns, David B Turner
The aim of this study was to evaluate gastrointestinal (GI) dissolution, supersaturation, and precipitation of posaconazole, formulated as an acidified (pH 1.6) and neutral (pH 7.1) suspension. A physiologically-based pharmacokinetic (PBPK) modeling and simulation tool was applied to simulate GI and systemic concentration-time profiles of posaconazole which were directly compared with intraluminal and systemic data measured in humans. The Advanced Dissolution Absorption and Metabolism (ADAM) model of the Simcyp® Simulator correctly simulated incomplete gastric dissolution and saturated duodenal concentrations of posaconazole in the duodenal fluids following administration of the neutral suspension...
August 17, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28817088/the-role-of-neurogenic-inflammation-in-blood-brain-barrier-disruption-and-development-of-cerebral-oedema-following-acute-central-nervous-system-cns-injury
#12
REVIEW
Annabel J Sorby-Adams, Amanda M Marcoionni, Eden R Dempsey, Joshua A Woenig, Renée J Turner
Acute central nervous system (CNS) injury, encompassing traumatic brain injury (TBI) and stroke, accounts for a significant burden of morbidity and mortality worldwide, largely attributable to the development of cerebral oedema and elevated intracranial pressure (ICP). Despite this, clinical treatments are limited and new therapies are urgently required to improve patient outcomes and survival. Originally characterised in peripheral tissues, such as the skin and lungs as a neurally-elicited inflammatory process that contributes to increased microvascular permeability and tissue swelling, neurogenic inflammation has now been described in acute injury to the brain where it may play a key role in the secondary injury cascades that evolve following both TBI and stroke...
August 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28817063/changes-in-lipids-and-inflammatory-markers-after-consuming-diets-high-in-red-meat-or-dairy-for-four-weeks
#13
Kirsty M Turner, Jennifer B Keogh, Peter J Meikle, Peter M Clifton
There is a body of evidence linking inflammation, altered lipid metabolism, and insulin resistance. Our previous research found that insulin sensitivity decreased after a four-week diet high in dairy compared to a control diet and to one high in red meat. Our aim was to determine whether a relationship exists between changes in insulin sensitivity and inflammatory biomarkers, or with lipid species. Fasting Tumor Necrosis Factor alpha (TNF-α), Tumor Necrosis Factor Receptor II (sTNF-RII), C-reactive protein (CRP), and lipids were measured at the end of each diet...
August 17, 2017: Nutrients
https://www.readbyqxmd.com/read/28815951/physics-based-all-atom-modeling-of-rna-energetics-and-structure
#14
REVIEW
Louis G Smith, Jianbo Zhao, David H Mathews, Douglas H Turner
The database of RNA sequences is exploding, but knowledge of energetics, structures, and dynamics lags behind. All-atom computational methods, such as molecular dynamics, hold promise for closing this gap. New algorithms and faster computers have accelerated progress in improving the reliability and accuracy of predictions. Currently, the methods can facilitate refinement of experimentally determined nuclear magnetic resonance and x-ray structures, but are 'unreliable' for predictions based only on sequence...
September 2017: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/28815879/calibrated-imaging-reveals-altered-grey-matter-metabolism-related-to-white-matter-microstructure-and-symptom-severity-in-multiple-sclerosis
#15
Nicholas A Hubbard, Monroe P Turner, Minhui Ouyang, Lyndahl Himes, Binu P Thomas, Joanna L Hutchison, Shawheen Faghihahmadabadi, Scott L Davis, Jeremy F Strain, Jeffrey Spence, Daniel C Krawczyk, Hao Huang, Hanzhang Lu, John Hart, Teresa C Frohman, Elliot M Frohman, Darin T Okuda, Bart Rypma
Multiple sclerosis (MS) involves damage to white matter microstructures. This damage has been related to grey matter function as measured by standard, physiologically-nonspecific neuroimaging indices (i.e., blood-oxygen-level dependent signal [BOLD]). Here, we used calibrated functional magnetic resonance imaging and diffusion tensor imaging to examine the extent to which specific, evoked grey matter physiological processes were associated with white matter diffusion in MS. Evoked changes in BOLD, cerebral blood flow (CBF), and oxygen metabolism (CMRO2 ) were measured in visual cortex...
August 16, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28815614/resveratrol-for-alzheimer-s-disease
#16
REVIEW
Christine Sawda, Charbel Moussa, R Scott Turner
The amyloid hypothesis suggests that the progressive accumulation and deposition of central nervous system (CNS) amyloid with aging is the proximate cause of Alzheimer's disease (AD). Thus, targeting molecular mechanisms of aging may be a viable treatment approach. Caloric restriction prevents diseases of aging, including AD, in animal models, perhaps by activation of sirtuins. The sirtuins (e.g., mammalian SIRT1) are deacetylases that link energy balance (NAD(+) /NADH) to regulation of gene transcription. Resveratrol is a potent activator of SIRT1, and thus may mimic caloric restriction to prevent diseases of aging...
August 16, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28814654/the-complex-effects-of-demographic-history-on-the-estimation-of-substitution-rate-concatenated-gene-analysis-results-in-no-more-than-twofold-overestimation
#17
Christopher H Martin, Sebastian Höhna, Jacob E Crawford, Bruce J Turner, Emilie J Richards, Lee H Simons
No abstract text is available yet for this article.
August 16, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28812451/nonmedical-use-of-over-the-counter-medications-is-significantly-associated-with-nonmedical-use-of-prescription-drugs-among-university-students
#18
Vi T Le, Abigail Norris Turner, Anne McDaniel, Kenneth M Hale, Christina Athas, Nicole C Kwiek
OBJECTIVE: To examine the association between nonmedical use of over-the-counter medications (NMUOTC) and nonmedical use of prescription drugs (NMUPD). PARTICIPANTS: University students surveyed on NMUOTC and NMUPD between August and December 2011 (N = 939). METHODS: Cross-sectional data analysis of online survey. RESULTS: The majority of respondents were female, undergraduate, Caucasian, and not affiliated with Greek life...
August 16, 2017: Journal of American College Health: J of ACH
https://www.readbyqxmd.com/read/28812221/multimodal-neuroimaging-in-schizophrenia-description-and-dissemination
#19
C J Aine, H J Bockholt, J R Bustillo, J M Cañive, A Caprihan, C Gasparovic, F M Hanlon, J M Houck, R E Jung, J Lauriello, J Liu, A R Mayer, N I Perrone-Bizzozero, S Posse, J M Stephen, J A Turner, V P Clark, Vince D Calhoun
In this paper we describe an open-access collection of multimodal neuroimaging data in schizophrenia for release to the community. Data were acquired from approximately 100 patients with schizophrenia and 100 age-matched controls during rest as well as several task activation paradigms targeting a hierarchy of cognitive constructs. Neuroimaging data include structural MRI, functional MRI, diffusion MRI, MR spectroscopic imaging, and magnetoencephalography. For three of the hypothesis-driven projects, task activation paradigms were acquired on subsets of ~200 volunteers which examined a range of sensory and cognitive processes (e...
August 15, 2017: Neuroinformatics
https://www.readbyqxmd.com/read/28809864/predicting-response-to-radical-chemo-radiotherapy-with-circulating-hpv-dna-locally-advanced-head-and-neck-squamous-carcinoma
#20
Jen Y Lee, Isaac Garcia-Murillas, Rosalind J Cutts, David Gonzalez De Castro, Lorna Grove, Tara Hurley, Fuqiang Wang, Christopher Nutting, Katie Newbold, Kevin Harrington, Nicholas Turner, Shreerang Bhide
BACKGROUND: Following chemo-radiotherapy (CCRT) for human papilloma virus positive (HPV+) locally advanced head and neck cancer, patients frequently undergo unnecessary neck dissection (ND) and/or repeated biopsies for abnormal PET-CT, which causes significant morbidity. We assessed the role of circulating HPV DNA in identifying 'true' residual disease. METHODS: We prospectively recruited test (n=55) and validation (n=33) cohorts. HPV status was confirmed by E7 RT-PCR...
August 15, 2017: British Journal of Cancer
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