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https://www.readbyqxmd.com/read/29041791/public-awareness-of-audiology-hearing-and-hearing-health-in-the-limpopo-province-south-africa
#1
Karin Joubert, Ben Sebothoma, Khomotjo S Kgare
BACKGROUND: The burden of hearing loss is on the increase, especially in low-income countries such as South Africa. The need for urgent action to prevent ear and hearing problems is a priority, especially as in many cases permanent hearing loss is preventable. In South Africa, as in other developing countries, there is a limited number of hearing health professionals and audiological resources. The lack of hearing health services may impact the general public's awareness of hearing and hearing health...
September 28, 2017: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#2
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29025028/cohort-profile-pregnancy-and-childhood-epigenetics-pace-consortium
#3
Janine F Felix, Bonnie R Joubert, Andrea A Baccarelli, Gemma C Sharp, Catarina Almqvist, Isabella Annesi-Maesano, Hasan Arshad, Nour Baïz, Marian J Bakermans-Kranenburg, Kelly M Bakulski, Elisabeth B Binder, Luigi Bouchard, Carrie V Breton, Bert Brunekreef, Kelly J Brunst, Esteban G Burchard, Mariona Bustamante, Leda Chatzi, Monica Cheng Munthe-Kaas, Eva Corpeleijn, Darina Czamara, Dana Dabelea, George Davey Smith, Patrick De Boever, Liesbeth Duijts, Terence Dwyer, Celeste Eng, Brenda Eskenazi, Todd M Everson, Fahimeh Falahi, M Daniele Fallin, Sara Farchi, Mariana F Fernandez, Lu Gao, Tom R Gaunt, Akram Ghantous, Matthew W Gillman, Semira Gonseth, Veit Grote, Olena Gruzieva, Siri E Håberg, Zdenko Herceg, Marie-France Hivert, Nina Holland, John W Holloway, Cathrine Hoyo, Donglei Hu, Rae-Chi Huang, Karen Huen, Marjo-Riitta Järvelin, Dereje D Jima, Allan C Just, Margaret R Karagas, Robert Karlsson, Wilfried Karmaus, Katerina J Kechris, Juha Kere, Manolis Kogevinas, Berthold Koletzko, Gerard H Koppelman, Leanne K Küpers, Christine Ladd-Acosta, Jari Lahti, Nathalie Lambrechts, Sabine A S Langie, Rolv T Lie, Andrew H Liu, Maria C Magnus, Per Magnus, Rachel L Maguire, Carmen J Marsit, Wendy McArdle, Erik Melén, Phillip Melton, Susan K Murphy, Tim S Nawrot, Lorenza Nisticò, Ellen A Nohr, Björn Nordlund, Wenche Nystad, Sam S Oh, Emily Oken, Christian M Page, Patrice Perron, Göran Pershagen, Costanza Pizzi, Michelle Plusquin, Katri Raikkonen, Sarah E Reese, Eva Reischl, Lorenzo Richiardi, Susan Ring, Ritu P Roy, Peter Rzehak, Greet Schoeters, David A Schwartz, Sylvain Sebert, Harold Snieder, Thorkild I A Sørensen, Anne P Starling, Jordi Sunyer, Jack A Taylor, Henning Tiemeier, Vilhelmina Ullemar, Marina Vafeiadi, Marinus H Van Ijzendoorn, Judith M Vonk, Annette Vriens, Martine Vrijheid, Pei Wang, Joseph L Wiemels, Allen J Wilcox, Rosalind J Wright, Cheng-Jian Xu, Zongli Xu, Ivana V Yang, Paul Yousefi, Hongmei Zhang, Weiming Zhang, Shanshan Zhao, Golareh Agha, Caroline L Relton, Vincent W V Jaddoe, Stephanie J London
No abstract text is available yet for this article.
September 13, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28984082/performance-evaluation-of-the-microinr-%C3%A2-point-of-care-inr-testing-system
#4
J Joubert, M C van Zyl, J Raubenheimer
INTRODUCTION: Point-of-care International Normalised Ratio (INR) testing is used frequently. We evaluated the microINR(®) POC system for accuracy, precision and measurement repeatability, and investigated instrument and test chip variability and error rates. METHODS: Venous blood INRs of 210 patients on warfarin were obtained with Thromborel(®) S on the Sysmex CS-2100i(®) analyser and compared with capillary blood microINR(®) values. Precision was assessed using control materials...
October 6, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28982395/pseudomonas-phage-inhibition-of-candida-albicans
#5
Hasan Nazik, Lydia-Marie Joubert, Patrick R Secor, Johanna M Sweere, Paul L Bollyky, Gabriele Sass, Lynette Cegelski, David A Stevens
Pseudomonas aeruginosa (Pa) and Candida albicans (Ca) are major bacterial and fungal pathogens in immunocompromised hosts, and notably in the airways of cystic fibrosis patients. The bacteriophages of Pa physically alter biofilms, and were recently shown to inhibit the biofilms of Aspergillus fumigatus. To understand the range of this viral-fungal interaction, we studied Pa phages Pf4 and Pf1, and their interactions with Ca biofilm formation and preformed Ca biofilm. Both forms of Ca biofilm development, as well as planktonic Ca growth, were inhibited by either phage...
October 6, 2017: Microbiology
https://www.readbyqxmd.com/read/28973990/versatility-of-7-substituted-coumarin-molecules-as-antimycobacterial-agents-neuronal-enzyme-inhibitors-and-neuroprotective-agents
#6
Erika Kapp, Hanri Visser, Samantha L Sampson, Sarel F Malan, Elizabeth M Streicher, Germaine B Foka, Digby F Warner, Sylvester I Omoruyi, Adaze B Enogieru, Okobi E Ekpo, Frank T Zindo, Jacques Joubert
A medium-throughput screen using Mycobacterium tuberculosis H37Rv was employed to screen an in-house library of structurally diverse compounds for antimycobacterial activity. In this initial screen, eleven 7-substituted coumarin derivatives with confirmed monoamine oxidase-B and cholinesterase inhibitory activities, demonstrated growth inhibition of more than 50% at 50 µM. This prompted further exploration of all the 7-substituted coumarins in our library. Four compounds showed promising MIC99 values of 8...
September 30, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28973549/a-human-patient-derived-cellular-model-of-joubert-syndrome-reveals-ciliary-defects-which-can-be-rescued-with-targeted-therapies
#7
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage renal failure within the first two decades of life, thus providing a potential window for therapeutic intervention...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971056/joubert-syndrome-presenting-with-normal-pyramidal-decussation-a-case-report
#8
Nam-Sik Kim, Sung-Hee Park
Joubert syndrome (JS) is a rare genetic disorder characterized by a congenital malformation of the hindbrain, and accompanied by axonal decussation abnormalities affecting the corticospinal tract and the superior cerebellar peduncles. To the best of our knowledge, there are no reports of normal pyramidal decussation in JS. Here, we describe the case of an 18-year-old boy presenting midline-crossing corticospinal projections, which were considered normal corticospinal tract trajectories. Diffusion tensor imaging and motor evoked potential study analysis demonstrated the exclusive presence of decussating corticospinal projections in the patient...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#9
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28963865/treating-late-life-depression-comparing-the-effects-of-internet-delivered-cognitive-behavior-therapy-across-the-adult-lifespan
#10
Megan J Hobbs, Amy E Joubert, Alison E J Mahoney, Gavin Andrews
BACKGROUND: The burden attributable to late-life depression is set to increase with the ageing population. The size of the workforce trained to deliver psychogeriatric medicine is limited. Internet-delivered cognitive behavioral therapy (iCBT) is an efficacious and scalable treatment option for depression. Yet older adults are underrepresented in iCBT research. This study examines the effects of iCBT for depression across the adult lifespan among patients seeking help in routine clinical care (N = 1288)...
September 23, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28954202/ciliopathy-protein-tmem107-plays-multiple-roles-in-craniofacial-development
#11
P Cela, M Hampl, N A Shylo, K J Christopher, M Kavkova, M Landova, T Zikmund, S D Weatherbee, J Kaiser, M Buchtova
A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28946261/fate-of-sds-insoluble-glutenin-polymers-from-semolina-to-dry-pasta
#12
Marianne Joubert, Valérie Lullien-Pellerin, Marie-Hélène Morel
Pasta cooking quality is well known to be related to semolina protein content and composition, however impact of the unextractable polymeric protein content (%UPP) remains disputed. In this work different semolina samples, of variable protein contents (10.5-14.2%) and %UPP (20.2-46.3%) are studied. The changes in %UPP induced by the successive pasta processing steps (mixing, extrusion, drying) but also those occurring during resting periods at 35°C, applied in-between them, were investigated. Effect of a resting period was moderate after mixing, but pronounced after extrusion...
February 1, 2018: Food Chemistry
https://www.readbyqxmd.com/read/28938495/polyphenol-enriched-fractions-of-cyclopia-intermedia-selectively-affect-lipogenesis-and-lipolysis-in-3t3-l1-adipocytes
#13
Babalwa U Jack, Christiaan J Malherbe, Elize L Willenburg, Dalene de Beer, Barbara Huisamen, Elizabeth Joubert, Christo J F Muller, Johan Louw, Carmen Pheiffer
Cyclopia species are increasingly investigated as sources of phenolic compounds with potential as therapeutic agents. Recently, we demonstrated that a crude polyphenol-enriched organic fraction (CPEF) of Cyclopia intermedia, currently forming the bulk of commercial production, decreased lipid content in 3T3-L1 adipocytes and inhibited body weight gain in obese db/db mice. The aim of the present study was to determine whether a more effective product and/or one with higher specificity could be obtained by fractionation of the CPEF by purposely increasing xanthone and benzophenone levels...
September 22, 2017: Planta Medica
https://www.readbyqxmd.com/read/28937622/specificities-of-human-hepatocellular-carcinoma-developed-on-non-alcoholic-fatty-liver-disease-in-absence-of-cirrhosis-revealed-by-tissue-extracts-%C3%A2-h-nmr-spectroscopy
#14
Camille Teilhet, Daniel Morvan, Juliette Joubert-Zakeyh, Anne-Sophie Biesse, Bruno Pereira, Sylvie Massoulier, Pierre Dechelotte, Denis Pezet, Emmanuel Buc, Géraldine Lamblin, Michel Peoc'h, Jack Porcheron, Marie-Paule Vasson, Armando Abergel, Aicha Demidem
There is a rising incidence of non-alcoholic fatty liver disease (NAFLD) as well as of the frequency of Hepato-Cellular Carcinoma (HCC) associated with NAFLD. To seek for putative metabolic pathways specific of the NAFLD etiology, we performed comparative metabolomics between HCC associated with NAFLD and HCC associated with cirrhosis. The study included 28 pairs of HCC tissue versus distant Non-Tumoral Tissue (NTT) collected from patients undergoing hepatectomy. HCC was associated with cirrhosis (n = 9), normal liver (n = 6) and NAFLD (n = 13)...
September 22, 2017: Metabolites
https://www.readbyqxmd.com/read/28936269/microfibrous-scaffolds-enhance-endothelial-differentiation-and-organization-of-induced-pluripotent-stem-cells
#15
Joseph J Kim, Luqia Hou, Guang Yang, Nicholas P Mezak, Maureen Wanjare, Lydia M Joubert, Ngan F Huang
INTRODUCTION: Human induced pluripotent stem cells (iPSCs) are a promising source of endothelial cells (iPSC-ECs) for engineering three-dimensional (3D) vascularized cardiac tissues. To mimic cardiac microvasculature, in which capillaries are oriented in parallel, we hypothesized that endothelial differentiation of iPSCs within topographically aligned 3D scaffolds would be a facile one-step approach to generate iPSC-ECs as well as induce aligned vascular organization. METHODS: Human iPSCs underwent endothelial differentiation within electrospun 3D polycaprolactone (PCL) scaffolds having either randomly oriented or parallel-aligned microfibers...
October 2017: Cellular and Molecular Bioengineering
https://www.readbyqxmd.com/read/28911940/anthracenyl-polar-embedded-stationary-phases-with-enhanced-aromatic-selectivity-part-ii-a-density-functional-theory-study
#16
Mélanie Mignot, Benjamin Schammé, Vincent Tognetti, Laurent Joubert, Pascal Cardinael, Valérie Peulon-Agasse
New polar embedded aromatic stationary phases (mono- and trifunctional versions) that contain an amide-embedded group coupled with a tricyclic aromatic moiety were developed for chromatographic applications and described in the first paper of this series. These phases offered better separation performance for PAHs than for alkylbenzene homologues, and an enhanced ability to differentiate aromatic planarity to aromatic tridimensional conformation, especially for the trifunctional version and when using methanol instead of acetonitrile...
October 13, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28911823/towards-antibody-drug-conjugates-and-prodrug-strategies-with-extracellular-stimuli-responsive-drug-delivery-in-the-tumor-microenvironment-for-cancer-therapy
#17
REVIEW
Nicolas Joubert, Caroline Denevault-Sabourin, Francesca Bryden, Marie-Claude Viaud-Massuard
The design of innovative anticancer chemotherapies with superior antitumor efficacy and reduced toxicity continues to be a challenging endeavor. Recently, the success of Adcetris(®) and Kadcyla(®) made antibody-drug conjugates (ADCs) serious contenders to reach the envied status of Paul Ehrlich's "magic bullet". However, ADCs classically target overexpressed and internalizing antigens at the surface of cancer cells, and in solid tumors are associated with poor tumor penetration, insufficient targeting in heterogeneous tumors, and appearance of several resistance mechanisms...
August 23, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28901965/anaplastic-gliomas-in-adults-an-update
#18
Cristina Izquierdo, Bastien Joubert, François Ducray
PURPOSE OF REVIEW: The current review summarizes recent advances on the oncogenesis, classification and treatment of adult anaplastic gliomas. RECENT FINDINGS: According to the 2016 WHO classification, three main molecular subgroups of adult diffuse anaplastic gliomas can be distinguished based on the 1p/19q codeletion and isocitrate dehydrogenase (IDH) mutation status. In the future, this classification may be further refined based on the telomerase reverse transcriptase promoter and alpha thalassemia/mental retardation syndrome X-linked mutation status, gene expression, DNA methylation and genomic profiling...
November 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28893945/zfp423-znf423-regulates-cell-cycle-progression-the-mode-of-cell-division-and-the-dna-damage-response-in-purkinje-neuron-progenitors
#19
Filippo Casoni, Laura Croci, Camilla Bosone, Roberta D'Ambrosio, Aurora Badaloni, Davide Gaudesi, Valeria Barili, Justyna R Sarna, Lino Tessarollo, Ottavio Cremona, Richard Hawkes, Søren Warming, G Giacomo Consalez
The Zfp423/ZNF423 gene encodes a 30-Zn-finger transcription factor involved in key developmental pathways. While null Zfp423 mutants develop cerebellar malformations, the underlying mechanism remains unknown. ZNF423 mutations have been associated to Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia. ZNF423 participates in the DNA damage response, raising questions regarding its role as a regulator of neural progenitor cell cycle progression in cerebellar development. To characterize in vivo the function of ZFP423 in neurogenesis, we analyzed allelic murine mutants in which distinct functional domains are deleted...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28892859/assessment-of-flushing-methods-for-the-removal-of-heavy-chlorinated-compounds-dnapl-in-an-alluvial-aquifer
#20
Julien Maire, Antoine Joubert, Delphine Kaifas, Thomas Invernizzi, Julien Marduel, Stéfan Colombano, David Cazaux, Cédric Marion, Pierre-Yves Klein, Alain Dumestre, Nicolas Fatin-Rouge
Immiscible mobilization and foam flushing were assessed as low surfactant consuming technologies, for the enhanced recovery of dense non-aqueous phase liquid (DNAPL) residual at a site contaminated by heavy chlorinated compounds. Preliminary experiments in well-controlled conditions demonstrated the phenomena involved in these remediation technologies and their limitations. Furthermore, we characterized the technologies according to by their surfactant consumption (per kg of DNAPL recovered) and the final DNAPL saturation reached...
September 7, 2017: Science of the Total Environment
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