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https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#1
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28316007/talimogene-laherparepvec-for-treating-metastatic-melanoma-an-evidence-review-group-perspective-of-a-nice-single-technology-appraisal
#2
REVIEW
Nigel Fleeman, Adrian Bagust, Angela Boland, Sophie Beale, Marty Richardson, Ashma Krishan, Angela Stainthorpe, Ahmed Abdulla, Eleanor Kotas, Lindsay Banks, Miranda Payne
The National Institute for Health and Care Excellence (NICE) invited the manufacturer (Amgen) of talimogene laherparepvec (T-VEC) to submit clinical and cost-effectiveness evidence for previously untreated advanced (unresectable or metastatic) melanoma as part of the Institute's Single Technology Appraisal process. The Liverpool Reviews and Implementation Group (LRiG) at the University of Liverpool was commissioned to act as the Evidence Review Group (ERG). This article presents a summary of the company's submission of T-VEC, the ERG review and the resulting NICE guidance (TA410), issued in September 2016...
March 18, 2017: PharmacoEconomics
https://www.readbyqxmd.com/read/28314085/targeted-next-generation-sequencing-and-identification-of-risk-factors-in-world-health-organization-defined-atypical-chronic-myeloid-leukemia
#3
Mrinal M Patnaik, Daniela Barraco, Terra L Lasho, Christy M Finke, Kaaren Reichard, Katherine P Hoversten, Rhett P Ketterling, Naseema Gangat, Ayalew Tefferi
Atypical chronic myeloid leukemia (aCML) is an aggressive myeloid neoplasm with overlapping features of myelodysplastic syndromes (prominent granulocytic dysplasia) and myeloproliferative neoplasms (neutrophilic leukocytosis). We studied 25 molecularly-annotated and World Health Organization defined aCML patients; median age 70 years, 84% males. Cytogenetic abnormalities were seen in 36% and gene mutations in 100%. Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8% and PTPN11 4%...
March 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28295277/lipopolysaccharide-can-modify-differentiation-and-immunomodulatory-potential-of-periodontal-ligament-stem-cells-via-erk1-2-signaling
#4
Tamara Kukolj, Drenka Trivanović, Ivana Okić Djordjević, Slavko Mojsilović, Jelena Krstić, Hristina Obradović, Srdja Janković, Juan Francisco Santibanez, Aleksandra Jauković, Diana Bugarski
Lipopolysaccharide (LPS) is a pertinent deleterious factor in oral microenvironment for cells which are carriers of regenerative processes. The aim of this study was to investigate the emerging in vitro effects of LPS (E.coli) on human periodontal ligament stem cell (PDLSC) functions and associated signaling pathways. We demonstrated that LPS did not affect immunophenotype, proliferation, viability and cell cycle of PDLSCs. However, LPS modified lineage commitment of PDLSCs inhibiting osteogenesis by downregulating Runx2, ALP and Ocn mRNA expression, while stimulating chondrogenesis and adipogenesis by upregulating Sox9 and PPARγ mRNA expression...
March 14, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28293473/separating-generalized-anxiety-disorder-from-major-depression-using-clinical-hormonal-and-structural-mri-data-a-multimodal-machine-learning-study
#5
Kevin Hilbert, Ulrike Lueken, Markus Muehlhan, Katja Beesdo-Baum
BACKGROUND: Generalized anxiety disorder (GAD) is difficult to recognize and hard to separate from major depression (MD) in clinical settings. Biomarkers might support diagnostic decisions. This study used machine learning on multimodal biobehavioral data from a sample of GAD, MD and healthy subjects to differentiate subjects with a disorder from healthy subjects (case-classification) and to differentiate GAD from MD (disorder-classification). METHODS: Subjects with GAD (n = 19), MD without GAD (n = 14), and healthy comparison subjects (n = 24) were included...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28290743/brain-anatomy-of-symptom-stratification-in-schizophrenia-a-voxel-based-morphometry-study
#6
Giuseppe Delvecchio, Alessandra Lorandi, Cinzia Perlini, Marco Barillari, Mirella Ruggeri, A Carlo Altamura, Marcella Bellani, Paolo Brambilla
BACKGROUND: Although some Magnetic Resonance Imaging (MRI) studies have investigated the relationship between clinical severity and neuroanatomical alterations in patients with schizophrenia (SCZ), the biological signature associated with illness severity in schizophrenia is still uncertain. Therefore, this study aims to investigate structural brain abnormalities in SCZ, with particular regards to the identification of potential deficits associated with the severity of illness. METHODS: In total, 1...
March 14, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28290386/imaging-biomarker-correlates-with-oxidative-stress-in-parkinson-s-disease
#7
Rajini M Naduthota, Rose D Bharath, Ketan Jhunjhunwala, Ravi Yadav, Jitender Saini, Rita Christopher, Pramod Kumar Pal
BACKGROUND: While oxidative stress (OS) may be one of the crucial factors determining the initiation and progression of Parkinson's disease (PD), its correlation with gray matter (GM) atrophy is not known. AIMS: To determine the GM volume (GMV) changes using voxel-based morphometry (VBM) and correlation with OS marker serum malondialdehyde (MDA) in PD. MATERIALS AND METHODS: Seventy-two patients with PD were clinically evaluated and underwent magnetic resonance imaging (MRI) on a 3T MRI scanner using a 32-channel head coil...
March 2017: Neurology India
https://www.readbyqxmd.com/read/28289939/patient-dose-in-interventional-radiology-a-multicentre-study-of-the-most-frequent-procedures-in-france
#8
Cécile Etard, Emeline Bigand, Cécile Salvat, Vincent Vidal, Jean Paul Beregi, Amaury Hornbeck, Joël Greffier
OBJECTIVES: A national retrospective survey on patient doses was performed by the French Society of Medical physicists to assess reference levels (RLs) in interventional radiology as required by the European Directive 2013/59/Euratom. METHODS: Fifteen interventional procedures in neuroradiology, vascular radiology and osteoarticular procedures were analysed. Kerma area product (KAP), fluoroscopy time (FT), reference air kerma and number of images were recorded for 10 to 30 patients per procedure...
March 13, 2017: European Radiology
https://www.readbyqxmd.com/read/28284224/anthropometric-measures-and-serum-estrogen-metabolism-in-postmenopausal-women-the-women-s-health-initiative-observational-study
#9
Hannah Oh, Sally B Coburn, Charles E Matthews, Roni T Falk, Erin S LeBlanc, Jean Wactawski-Wende, Joshua Sampson, Ruth M Pfeiffer, Louise A Brinton, Nicolas Wentzensen, Garnet L Anderson, JoAnn E Manson, Chu Chen, Oleg Zaslavsky, Xia Xu, Britton Trabert
BACKGROUND: Several anthropometric measures have been associated with hormone-related cancers. However, it is unknown whether estrogen metabolism plays an important role in these relationships. We examined whether measured current body mass index (BMI), waist-to-hip ratio (WHR), height, and self-reported BMI at age 18 years were associated with serum estrogens/estrogen metabolites using baseline, cross-sectional data from 1835 postmenopausal women enrolled in the Women's Health Initiative Observational Study...
March 11, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28282218/immunotoxins-in-cancer-therapy-review-and-update
#10
Bahman Akbari, Safar Farajnia, Shiva Ahdi Khosroshahi, Fatemeh Safari, Mohammadreza Yousefi, Hassan Dariushnejad, Leila Rahbarnia
Immunotoxins are a novel class of cancer therapeutics that contains a cytotoxic agent fused to a targeting moiety. Various toxic agents from different sources are used in immunotoxin development, including bacterial, plant and human origin cytotoxic elements. Although bacterial and plant-derived toxins are highly toxic and commonly used in immunotoxins, their immunogenicity for human restricted their application in cancer therapy. Here, we discuss the advantages and limitations of bacterial toxins such as Pseudomonas and Diphtheria toxins, plant toxins such as ricin and gelonin, and some endogenous protein of human origin such as RNases and Granzymes...
March 1, 2017: International Reviews of Immunology
https://www.readbyqxmd.com/read/28274253/phase-1b-randomized-double-blind-study-of-namilumab-an-anti-granulocyte-macrophage-colony-stimulating-factor-monoclonal-antibody-in-mild-to-moderate-rheumatoid-arthritis
#11
T W J Huizinga, A Batalov, R Stoilov, E Lloyd, T Wagner, D Saurigny, B Souberbielle, E Esfandiari
BACKGROUND: Namilumab (AMG203) is an immunoglobulin G1 monoclonal antibody that binds with high affinity to the GM-CSF ligand. This was a phase 1b, randomized, double-blind study (PRIORA) to assess namilumab in active, mild-to-moderate rheumatoid arthritis (RA). The primary outcome was the safety and tolerability of repeated subcutaneous injections of namilumab in patients with mild-to-moderate RA. METHODS: Adults with mild-to-moderate RA on stable methotrexate doses for ≥12 weeks were eligible...
March 9, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28269340/reconfigurable-analog-classifier-for-knee-joint-rehabilitation
#12
Sahil Shah, Hakan Toreyin, Omer T Inan, Jennifer Hasler
We present a System-On-Chip Field Programmable Analog Array (FPAA) for analyzing and processing the signals off an accelerometer for a wearable joint health assessment device. FPAAs have been shown to compute with an efficiency of 1000 times, as well as area efficiencies of 100 times, more than digital solutions. This work presents a low power signal processing system which allows us to extract features from the output of the accelerometer. These features are used by the classifier, implemented using a vector matrix multiplication and a two output 1-winner-take-all, to detect flexion and extension cycles in the subject...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28269311/prediction-of-microsleeps-from-eeg-preliminary-results
#13
Reza Shoorangiz, Stephen J Weddell, Richard D Jones
Brief episodes of momentarily falling asleep - microsleeps - can have fatal consequences, especially in the transportation sector. In this study, the EEG data of eight subjects, while performing a 1-D tracking task, were used to predict imminent microsleeps. A novel algorithm was developed to improve the accuracy of microsleep identification from two independent measures: tracking performance and face-video. The uncertain labels of gold-standard were then pruned out. Additionally, the state of microsleep at 0...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28264059/biomarker-based-diagnosis-of-pacemaker-and-implantable-cardioverter-defibrillator-pocket-infections-a-prospective-multicentre-case-control-evaluation
#14
Carsten Lennerz, Hrvoje Vrazic, Bernhard Haller, Siegmund Braun, Tobias Petzold, Ilka Ott, Agnes Lennerz, Jonathan Michel, Patrick Blažek, Isabel Deisenhofer, Peter Whittaker, Christof Kolb
BACKGROUND: The use of cardiac implantable electronic devices (CIED) has risen steadily, yet the rate of cardiac device infections (CDI) has disproportionately increased. Amongst all cardiac device infections, the pocket infection is the most challenging diagnosis. Therefore, we aimed to improve diagnosis of such pocket infection by identifying relevant biomarkers. METHODS: We enrolled 25 consecutive patients with invasively and microbiologically confirmed pocket infection...
2017: PloS One
https://www.readbyqxmd.com/read/28261781/cognitive-impairment-and-hippocampal-atrophy-in-chronic-kidney-disease
#15
C-Y Chang, C-C Lin, C-F Tsai, W-C Yang, S-J Wang, F-H Lin, J-L Fuh
BACKGROUND: Cognition impairment is well known in patients with chronic kidney disease (CKD). The relationship between brain structure and cognitive performance in CKD patients is still under investigation. The study aimed to quantitatively assess the relationship between brain structure and cognitive performance in patients with CKD. METHODS: We recruited 39 patients with CKD and 39 age- and sex-matched control participants from a tertiary medical center. All participants underwent 3-T MRI scan neuropsychological assessments, and renal function tests...
March 5, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28260614/classification-of-alzheimer-s-disease-and-prediction-of-mild-cognitive-impairment-to-alzheimer-s-conversion-from-structural-magnetic-resource-imaging-using-feature-ranking-and-a-genetic-algorithm
#16
Iman Beheshti, Hasan Demirel, Hiroshi Matsuda
We developed a novel computer-aided diagnosis (CAD) system that uses feature-ranking and a genetic algorithm to analyze structural magnetic resonance imaging data; using this system, we can predict conversion of mild cognitive impairment (MCI)-to-Alzheimer's disease (AD) at between one and three years before clinical diagnosis. The CAD system was developed in four stages. First, we used a voxel-based morphometry technique to investigate global and local gray matter (GM) atrophy in an AD group compared with healthy controls (HCs)...
February 27, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28258664/surgical-and-not-analgesic-technique-affects-postoperative-inflammation-following-colorectal-cancer-surgery-a-prospective-randomized-study
#17
W Siekmann, C Eintrei, A Magnuson, A Sjölander, P Matthiessen, P Myrelid, A Gupta
AIM: Epidural analgesia reduces the surgical stress response. However, its effect on pro- and anti-inflammatory cytokines in the genesis of inflammation following major abdominal surgery remains unclear. Our main objective was to elucidate whether perioperative epidural analgesia prevents the inflammatory response following colorectal cancer surgery. METHODS: 96 patients scheduled for open or laparoscopic surgery were randomized to epidural analgesia (group E) or patient controlled intravenous analgesia (group P)...
March 4, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28254412/bromodomain-inhibitors-jq1-and-i-bet-762-as-potential-therapies-for-pancreatic-cancer
#18
Ana S Leal, Charlotte R Williams, Darlene B Royce, Patricia A Pioli, Michael B Sporn, Karen T Liby
Bromodomain inhibitors (JQ1 and I-BET 762) are a new generation of selective, small molecule inhibitors that target BET (bromodomain and extra terminal) proteins. By impairing their ability to bind to acetylated lysines on histones, bromodomain inhibitors interfere with transcriptional initiation and elongation. BET proteins regulate several genes responsible for cell cycle, apoptosis and inflammation. In this study, JQ1 and I-BET 762 decreased c-Myc and p-Erk 1/2 protein levels and inhibited proliferation in pancreatic cancer cells...
February 27, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28253572/-clinical-comparative-analysis-of-surgical-resection-of-the-pregnancy-by-hysterotomy-and-hysterectomy-for-cesarean-scar-pregnancy
#19
Z Y Chen, L Zhao, Asiyan Nusilati, D Zhao, M Zhou, X M Zhang
Objective: To assess the indication and safety of surgical resection of the pregnancy by hysterotomy (SRPH) and hysterectomy for cesarean scar pregnancy (CSP). Methods: A retrospective study of women with CSP was conducted at the Women's Hospital, School of Medicine, Zhejiang University, from Jan. 2003 to Mar. 2016. The women underwent SRPH (SRPH group, n=35) and hysterectomy (Hysterectomy group, n=14) were included. The gestational age (GA), size of gestational mass(GM), level of serum β-hCG, previous treatments and clinical outcomes were analyzed...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28253549/the-immune-response-of-the-human-brain-to-abdominal-surgery
#20
Anton Forsberg, Simon Cervenka, Malin Jonsson Fagerlund, Lars S Rasmussen, Henrik Zetterberg, Helena Erlandsson Harris, Pernilla Stridh, Eva Christensson, Anna Granström, Anna Schening, Karin Dymmel, Nina Knave, Niccolò Terrando, Mervyn Maze, Jacqueline Borg, Andrea Varrone, Christer Halldin, Kaj Blennow, Lars Farde, Lars I Eriksson
OBJECTIVE: Surgery launches a systemic inflammatory reaction that reaches the brain and associates with immune activation and cognitive decline. While preclinical studies have in part described this systemic-to-brain signaling pathway, we lack information on how these changes appear in humans. This study examines the short- and long-term impact of abdominal surgery on the human brain immune system by Positron Emission Tomography (PET) in relation to blood immune reactivity, plasma inflammatory biomarkers and cognitive function...
March 2, 2017: Annals of Neurology
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