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https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#1
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334047/clinical-validation-of-chemotherapy-predictors-developed-on-global-microrna-expression-in-the-nci60-cell-line-panel-tested-in-ovarian-cancer
#2
Kira Philipsen Prahm, Claus Høgdall, Mona Aarenstrup Karlsen, Ib Jarle Christensen, Guy Wayne Novotny, Steen Knudsen, Anker Hansen, Peter Buhl Jensen, Thomas Jensen, Mansoor Raza Mirza, Anne Weng Ekmann-Gade, Lotte Nedergaard, Estrid Høgdall
OBJECTIVE: Ovarian cancer is the leading cause of death among gynecologic malignancies. This is partly due to a non-durable response to chemotherapy. Prediction of resistance to chemotherapy could be a key role in more personalized treatment. In the current study we aimed to examine if microRNA based predictors could predict resistance to chemotherapy in ovarian cancer, and to investigate if the predictors could be prognostic factors for progression free and overall survival. METHODS: Predictors of chemotherapy-resistance were developed based on correlation between miRNA expression and differences in measured growth inhibition in a variety of human cancer cell lines in the presence of Carboplatin, Paclitaxel and Docetaxel...
2017: PloS One
https://www.readbyqxmd.com/read/28333635/blind-facial-image-quality-enhancement-using-non-rigid-semantic-patches
#3
Ester Hait, Guy Gilboa
We propose a new way to solve a very general blind inverse problem of multiple simultaneous degradations such as blur, resolution reduction, noise and contrast changes, without explicitly estimating the degradation. The proposed concept is based on combining semantic non-rigid patches, problem-specific high quality prior data and non-rigid registration tools. We show how a significant quality enhancement can be achieved, both visually and quantitatively, in the case of facial images. The method is demonstrated on the problem of cellular photography quality enhancement of dark facial images for different identities, expressions and poses, and is compared to state-of-the-art denoising, deblurring, super-resolution and colorcorrection methods...
March 22, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28333480/underestimation-in-linear-function-learning-anchoring-to-zero-or-x-y-similarity
#4
Mark A Brown, Guy Lacroix
Function learning research has shown that people tend to underestimate positive linear functions when extrapolating Y for X-values below the training range. Kwantes and Neal (2006) proposed that this underestimation occurs because people anchor their Y-estimates at zero. It is equally plausible, however, that people are biased to make Y-estimates similar to the presented X-value. To differentiate these 2 explanations, 135 participants extrapolated positive linear functions with a y-intercept either greater than or less than zero...
March 23, 2017: Canadian Journal of Experimental Psychology, Revue Canadienne de Psychologie Expérimentale
https://www.readbyqxmd.com/read/28332566/a-conformational-change-within-the-wave2-complex-regulates-its-degradation-following-cellular-activation
#5
Noah Joseph, Guy Biber, Sophia Fried, Barak Reicher, Omer Levy, Batel Sabag, Elad Noy, Mira Barda-Saad
WASp family Verprolin-homologous protein-2 (WAVE2), a member of the Wiskott-Aldrich syndrome protein (WASp) family of actin nucleation promoting factors, is a central regulator of actin cytoskeleton polymerization and dynamics. Multiple signaling pathways operate via WAVE2 to promote the actin-nucleating activity of the actin-related protein 2/3 (Arp2/3) complex. WAVE2 exists as a part of a pentameric protein complex known as the WAVE regulatory complex (WRC), which is unstable in the absence of its individual proteins...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332484/multivariate-regression-methods-for-estimating-velocity-of-ictal-discharges-from-human-microelectrode-recordings
#6
Jyun-You Liou, Elliot Smith, Lisa Bateman, Guy McKhann, Robert Goodman, Bradley Greger, Tyler Davis, Spencer Kellis, Paul House, Catherine Schevon
OBJECTIVE: Epileptiform discharges, an electrophysiological hallmark of seizures, can propagate across cortical tissue in a manner similar to traveling waves. Recent work has focused attention on the origination and propagation patterns of these discharges, yielding important clues to their source location and mechanism of travel. However, systematic studies of methods for measuring propagation are lacking. APPROACH: We analyzed epileptiform discharges in microelectrode array recordings of human seizures...
March 23, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28332306/impact-of-iatrogenic-iron-overload-on-the-course-of-hepatitis-c-in-dialysis-population-a-plea-for-caution
#7
Guy Rostoker, Nosratola D Vaziri
About 2.5% of the world population, corresponding to about 177 million individuals, are infected by hepatitis C virus (HCV), a small, single-stranded RNA virus. The prevalence of HCV infection among dialysis patients in Japan, Europe, and North America during the 2012 to 2015 period was found to be 8.7% in the DOPPS study. Nosocomial HCV spread in hemodialysis facilities still occurs. Increased hepatic tissue iron has been shown to play a deleterious role in the course of hepatitis C, favor development of fibrosis and cirrhosis and possibly increase the risk of liver cancer in the general population...
March 23, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28332039/combined-quantification-of-fatty-infiltration-t-1-relaxation-times-and-t-2-relaxation-times-in-normal-appearing-skeletal-muscle-of-controls-and-dystrophic-patients
#8
Benjamin Leporq, Arnaud Le Troter, Yann Le Fur, Emmanuelle Salort-Campana, Maxime Guye, Olivier Beuf, Shahram Attarian, David Bendahan
OBJECTIVES: To evaluate the combination of a fat-water separation method with an automated segmentation algorithm to quantify the intermuscular fatty-infiltrated fraction, the relaxation times, and the microscopic fatty infiltration in the normal-appearing muscle. MATERIALS AND METHODS: MR acquisitions were performed at 1.5T in seven patients with facio-scapulo-humeral dystrophy and eight controls. Disease severity was assessed using commonly used scales for the upper and lower limbs...
March 22, 2017: Magma
https://www.readbyqxmd.com/read/28331356/individual-and-dyadic-coping-in-chronic-pain-patients
#9
Andrea Burri, Michèle Blank Gebre, Guy Bodenmann
The purpose of the current cross-sectional study was to test the associations between individual coping responses to pain, dyadic coping, and perceived social support, with a number of pain outcomes, including pain intensity, functional disability, and pain adjustment, in a sample of N = 43 patients suffering from chronic pain in Switzerland. In contrast to previous research, we were interested not only in specific pain coping but also in more general stress coping strategies and their potential influence on pain outcomes...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28331198/remote-control-of-glucose-homeostasis-in-vivo-using-photopharmacology
#10
Zenobia B Mehta, Natalie R Johnston, Marie-Sophie Nguyen-Tu, Johannes Broichhagen, Peter Schultz, Dean P Larner, Isabelle Leclerc, Dirk Trauner, Guy A Rutter, David J Hodson
Photopharmacology describes the use of light to precisely deliver drug activity in space and time. Such approaches promise to improve drug specificity by reducing off-target effects. As a proof-of-concept, we have subjected the fourth generation photoswitchable sulfonylurea JB253 to comprehensive toxicology assessment, including mutagenicity and maximum/repeated tolerated dose studies, as well as in vivo testing in rodents. Here, we show that JB253 is well-tolerated with minimal mutagenicity and can be used to optically-control glucose homeostasis in anesthetized mice following delivery of blue light to the pancreas...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28331071/cell-cell-and-cell-ecm-adhesions-cooperate-to-organize-actomyosin-networks-and-maintain-force-transmission-during-dorsal-closure
#11
Katharine Goodwin, Emily E Lostchuck, Kaitlyn M L Cramb, Teresa Zulueta-Coarasa, Rodrigo Fernandez-Gonzalez, Guy Tanentzapf
Tissue morphogenesis relies on the coordinated action of actin networks, cell-cell adhesions, and cell-ECM adhesions. Such coordination can be achieved through crosstalk between cell-cell and cell-ECM adhesions. Drosophila Dorsal Closure (DC), a morphogenetic process wherein an extra-embryonic tissue called the amnioserosa contracts and ingresses to close a discontinuity in the dorsal epidermis of the embryo, requires both cell-cell and cell-ECM adhesions. However, whether the function of these two types of adhesion is coordinated during DC is not known...
March 22, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28331062/hypoxia-inducible-factor-1%C3%AE-activation-improves-renal-oxygenation-and-mitochondrial-function-in-early-chronic-kidney-disease
#12
Joanna L Thomas, Hai Pham, Ying Li, Elanore Hall, Guy A Perkins, Sameh S Ali, Hemal H Patel, Prabhleen Singh
Pathophysiology of chronic kidney disease (CKD) is driven by alterations in surviving nephrons to sustain renal function with ongoing nephron loss. Oxygen supply-demand mismatch, due to hemodynamic adaptations, with resultant hypoxia, plays an important role in the pathophysiology in early CKD. We sought to investigate the underlying mechanisms of this mismatch. We utilized the subtotal nephrectomy (STN) model of CKD to investigate the alterations in renal oxygenation linked to sodium (Na) transport and mitochondrial function in the surviving nephrons...
March 22, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28330864/comment-on-diversification-of-the-antigen-specific-t-cell-receptor-repertoire-after-varicella-zoster-vaccination
#13
Christophe Parizot, Hélène Brisson, Jehane Fadlallah, Delphine Sterlin, Guy Gorochov
Analysis of antigen-specific T cells can be confounded by T cell activation in vitro.
March 22, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28330798/knee-osteoarthritis-degenerative-meniscal-lesion-and-osteonecrosis-of-the-knee-can-a-simple-gait-test-direct-us-to-a-better-clinical-diagnosis
#14
Ronen Debi, Avi Elbaz, Amit Mor, Gadi Kahn, Bezalel Peskin, Yiftah Beer, Gabriel Agar, Guy Morag, Ganit Segal
INTRODUCTION: The purpose of the current study was to compare the gait patterns in patients with three differing knee pathologies - knee osteoarthritis (OA), degenerative meniscal lesion (DML) and spontaneous osteonecrosis of the knee (SONK) and a group of healthy controls. HYPOTHESIS: A simple gait test will detect differences between different knee pathologies. MATERIAL AND METHODS: Forty-seven patients with bilateral knee OA, 47 patients with DML, 28 patients with SONK and 27 healthy controls were included in this analysis...
March 19, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28330064/mise-en-place-des-atlas-des-territoires-vasculaires-c%C3%A3-r%C3%A3-braux%C3%A2-la-zone-jonctionnelle-interne
#15
Sylvain Grange, Fabien Schneider, Rémi Grange, Rémi Richaud, Pierre Garnier, Fabrice-Guy Barral, Claire Boutet
No abstract text is available yet for this article.
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28330018/le-projet-mri-share%C3%A2-irm-d%C3%A2-une-cohorte-de-2000%C3%A2-%C3%A3-tudiants-%C3%A3-tat-d%C3%A2-avancement-et-r%C3%A3-sultats-pr%C3%A3-liminaires
#16
Bernard Mazoyer, Emmanuel Mellet, Nathalie Tzourio-Mazoyer, Guy Perchey, Pierre-Yves Hervé, Fabrice Crivello, Marc Joliot, Laurent Petit, Louise Knafo, Caroline Roussillon, Aurore Capelli, Thomas Tourdias, Laure Zago, Stéphanie Debette, Christophe Tzourio
No abstract text is available yet for this article.
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28329322/utilization-and-in-hospital-complications-of-cardiac-resynchronization-therapy-trends-in-the-united-states-from-2003-to-2013
#17
Seyed Mohammadreza Hosseini, Kasra Moazzami, Guy Rozen, Jeena Vaid, Ahmed Saleh, E Kevin Heist, Mark Vangel, Jeremy N Ruskin
Aims: Cardiac resynchronization therapy (CRT) device implantation has been shown to reduce morbidity and mortality in selected patients with heart failure. We sought to investigate the utilization and in-hospital complications of cardiac resynchronization therapy defibrillator (CRT-D) and pacemaker (CRT-P) implantations in the United States from 2003 to 2013. Methods and results: Patients receiving CRT-D or CRT-P were identified in the National Inpatient Sample database (NIS), using the International Classification of Diseases-Ninth Revision-Clinical Modification procedure codes...
March 13, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28329181/treatment-response-in-enteric-fever-in-an-era-of-increasing-antimicrobial-resistance-an-individual-patient-data-analysis-of-2-092-participants-enrolled-into-four-randomised-controlled-trials-in-nepal
#18
Corinne N Thompsom, Abhilasha Karkey, Sabina Dongol, Amit Ariyal, Marcel Wolbers, Thomas Darton, Jeremey J Farrar, Guy E Thwaites, Christiane Dolecek, Buddha Basnyat, Stephen Baker
Background: Enteric fever, caused by Salmonella Typhi and Salmonella Paratyphi A, is the leading cause of bacterial febrile disease in South Asia. Methods: Individual patient data from 2,092 subjects with enteric fever randomised into four trials in Kathmandu, Nepal was pooled. All trials compared gatifloxacin with a comparator drug: cefixime, chloramphenicol, ofloxacin, or ceftriaxone. Treatment outcomes were evaluated according to antimicrobial if S. Typhi/Paratyphi were isolated from blood...
February 28, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328870/the-effect-of-early-life-experience-environment-and-genetic-factors-on-spontaneous-home-cage-aggression-related-wounding-in-male-c57bl-6-mice
#19
Brianna N Gaskill, Aurora M Stottler, Joseph P Garner, Christina W Winnicker, Guy B Mulder, Kathleen R Pritchett-Corning
Aggression is a major welfare issue in mice, particularly when mice unfamiliar to each other are first placed in cages, as happens on receipt from a vendor, and following cage cleaning. Injuries from aggression are the second leading cause of unplanned euthanasia in mice, following ulcerative dermatitis. Commonly employed strategies for reducing aggression-related injury are largely anecdotal, and may even be counterproductive. Here we report a series of experiments testing potential explanations and interventions for post-shipping aggression-related injuries in C57BL/6 mice...
March 22, 2017: Lab Animal
https://www.readbyqxmd.com/read/28328366/psychiatric-genomics-and-the-role-of-the-family-beyond-the-doctor-patient-relationship
#20
Guy Widdershoven, Yolande Voskes, Gerben Meynen
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
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