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Bas P Hartel, Martijn J H Agterberg, Ad F Snik, Henricus P M Kunst, A John V Opstal, Arjan J Bosman, Ronald J E Pennings
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localization abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localization. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification program...
October 19, 2016: Clinical Otolaryngology
Thomas A Masters, John Kendrick-Jones, Folma Buss
Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer...
October 19, 2016: Handbook of Experimental Pharmacology
N R Datta, S Krishnan, D E Speiser, E Neufeld, N Kuster, S Bodis, H Hofmann
Effective multimodal cancer management requires the optimal integration of diagnostic and therapeutic modalities. Radiation therapy, chemotherapy and immunotherapy, alone or in combination, are integral parts of various cancer treatment protocols. Hyperthermia at 39-45°C is a potent radiosensitiser and has been shown to improve therapeutic outcomes in various tumours through its synergy with chemotherapy. Gene silencing approaches, using small interfering RNAs and microRNAs, are also being explored in clinical trials in oncology...
October 3, 2016: Cancer Treatment Reviews
Steven W Barger
Ask any neuroscientist to name the most profound discoveries in the field in the past 60 years, and at or near the top of the list will be a phenomenon or technique related to genes and their expression. Indeed, our understanding of genetics and gene regulation has ushered in whole new systems of knowledge and new empirical approaches, many of which could not have even been imagined prior to the molecular biology boon of recent decades. Neurochemistry, in the classic sense, intersects with these concepts in the manifestation of neuropeptides, obviously dependent upon the central dogma (the established rules by which DNA sequence is eventually converted into protein primary structure) not only for their conformation but also for their levels and locales of expression...
October 17, 2016: Journal of Neurochemistry
Josh Clevenger, Ye Chu, Brian Scheffler, Peggy Ozias-Akins
The advent of the genome sequences of Arachis duranensis and Arachis ipaensis has ushered in a new era for peanut genomics. With the goal of producing a gene atlas for cultivated peanut (Arachis hypogaea), 22 different tissue types and ontogenies that represent the full development of peanut were sequenced, including a complete reproductive series from flower to peg elongation and peg tip immersion in the soil to fully mature seed. Using a genome-guided assembly pipeline, a homeolog-specific transcriptome assembly for Arachis hypogaea was assembled and its accuracy was validated...
2016: Frontiers in Plant Science
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Brian Koffman, Andrew Schorr
The 21st century has seen rapid, positive changes in the management of chronic lymphocytic leukaemia from the patient's perspective. New prognostic and predictive markers have ushered in the start of more precise and individualized therapy. For the first time, combined therapy [fludarabine, cyclophosphamide and rituximab] has been shown to prolong life significantly. Clinical trials have become more adaptive, faster and more patient friendly. Perhaps the greatest change of all is the development of novel oral agents (ibrutinib and idelalisib) and powerful monoclonal antibodies that offer robust and durable disease control...
March 2016: Best Practice & Research. Clinical Haematology
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
Nabiul Islam, Sudip Misra
The network of novel nano-material based nanodevices, known as nanoscale communication networks or nanonetworks has ushered a new communication paradigm in the terahertz band (0.1-10 THz). In this work, first we envisage an architecture of nanonetworks-based Coronary Heart Disease (CHD) monitoring, consisting of nano-macro interface (NM) and nanodevice-embedded Drug Eluting Stents (DESs), termed as nanoDESs. Next, we study the problem of asymmetric data delivery in such nanonetworks-based systems and propose a simple distance-aware power allocation algorithm, named catch-the-pendulum, which optimizes the energy consumption of nanoDESs for communicating data from the underlying nanonetworks to radio frequency (RF) based macro-scale communication networks...
October 5, 2016: IEEE Transactions on Nanobioscience
Farzaneh Moghadam, M B Couger, Breeanna Russ, Randi Ramsey, Radwa A Hanafy, Connie Budd, Donald P French, Wouter D Hoff, Noha Youssef
The genus Pantoea is a predominant member of host-associated microbiome. We here report on the genomic analysis of Pantoea eucrina strain Russ that was isolated from a trashcan at Oklahoma State University, Stillwater, OK. The draft genome of Pantoea eucrina strain Russ consists of 3,939,877 bp of DNA with 3704 protein-coding genes and 134 RNA genes. This is the first report of a genome sequence of a member of Pantoea eucrina. Genomic analysis revealed metabolic versatility with genes involved in the metabolism and transport of all amino acids as well as glucose, fructose, mannose, xylose, arabinose and galactose, suggesting the organism is a versatile heterotroph...
December 2016: Genomics Data
Yogender Pal Khasa
Cardiovascular disorders are on the rise worldwide due to alcohol abuse, obesity, hypertension, raised blood lipids, diabetes and age-related risks. The use of classical antiplatelet and anticoagulant therapies combined with surgical intervention helped to clear blood clots during the inceptive years. However, the discovery of streptokinase and urokinase ushered the way of using these enzymes as thrombolytic agents to degrade the fibrin network with an issue of systemic hemorrhage. The development of second generation plasminogen activators like anistreplase and tissue plasminogen activator partially controlled this problem...
October 3, 2016: Bioengineered
Fanny Larsonneur, Fernando A Martin, Adeline Mallet, Marta Martinez-Gil, Vincent Semetey, Jean-Marc Ghigo, Christophe Beloin
Initial adhesion of bacterial cells to surfaces or host tissues is a key step in colonisation and biofilm formation processes, and is mediated by cell surface appendages. We previously demonstrated that Escherichia coli K-12 possesses an arsenal of silenced chaperone-usher fimbriae that are functional when constitutively expressed. Among them, production of prevalent Yad fimbriae induces adhesion to abiotic surfaces. We undertook functional characterisation of Yad fimbriae, and identified YadN as the most abundant and potential major pilin, and YadC as the potential tip-protein of Yad fimbriae...
October 3, 2016: Environmental Microbiology
Frederic F Depreux, Lingyan Wang, Han Jiang, Francine M Jodelka, Robert F Rosencrans, Frank Rigo, Jennifer J Lentz, John V Brigande, Michelle L Hastings
Congenital diseases account for a large portion of pediatric illness. Prenatal screening and diagnosis permit early detection of many genetic diseases. Fetal therapeutic strategies to manage disease processes in utero represent a powerful new approach for clinical care. A safe and effective fetal pharmacotherapy designed to modulate gene expression ideally would avoid direct mechanical engagement of the fetus and present an external reservoir of drug. The amniotic cavity surrounding the fetus could serve as an ideal drug reservoir...
September 28, 2016: Nucleic Acids Research
Irene Farabella, Thieng Pham, Nadine S Henderson, Sebastian Geibel, Gilles Phan, David G Thanassi, Anne H Delcour, Gabriel Waksman, Maya Topf
No abstract text is available yet for this article.
2016: ELife
Ann Danaiya Usher
No abstract text is available yet for this article.
September 24, 2016: Lancet
Ray K Boyapati, Rahul Kalla, Jack Satsangi, Gwo-Tzer Ho
The completion of the human genome project in 2003 represented a major scientific landmark, ushering in a new era with hopes and expectations of fresh insights into disease mechanisms and treatments. In inflammatory bowel disease (IBD), many important discoveries soon followed, notably the identification of >200 genetic susceptibility loci and characterization of the gut microbiome. As "big data", driven by advances in technology, becomes increasingly available and affordable, individuals with IBD and clinicians alike yearn for tangible outcomes from the promise of "precision medicine"-precise diagnosis, monitoring, and treatment...
September 27, 2016: American Journal of Gastroenterology
Paul L Auer, Alex P Reiner, Gao Wang, Hyun Min Kang, Goncalo R Abecasis, David Altshuler, Michael J Bamshad, Deborah A Nickerson, Russell P Tracy, Stephen S Rich, Suzanne M Leal
Massively parallel whole-genome sequencing (WGS) data have ushered in a new era in human genetics. These data are now being used to understand the role of rare variants in complex traits and to advance the goals of precision medicine. The technological and computing advances that have enabled us to generate WGS data on thousands of individuals have also outpaced our ability to perform analyses in scientifically and statistically rigorous and thoughtful ways. The past several years have witnessed the application of whole-exome sequencing (WES) to complex traits and diseases...
October 6, 2016: American Journal of Human Genetics
Michael L Bernard
BACKGROUND: Worldwide, more than 700,000 pacemakers are implanted annually with more than 250,000 implanted in the United States. Since the first fully transvenous pacemaker implantations in the early 1960s, great technologic advances have been made in pacing systems. However, the combination of subcutaneous pulse generators and transvenous pacing leads has remained constant for more than 50 years. Leadless pacing systems offer an alternative to traditional pacing systems by eliminating the need for permanent transvenous leads while providing therapy for patients with bradyarrhythmias...
2016: Ochsner Journal
Kerrie Doyle, Michelle Cleary, Kim Usher, Catherine Hungerford
No abstract text is available yet for this article.
October 2016: International Journal of Mental Health Nursing
Suthat Liangpunsakul, Paul Y Kwo
No abstract text is available yet for this article.
September 17, 2016: Clinical Gastroenterology and Hepatology
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