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Yusuke Toda, Yuya Nagai, Daiki Shimomura, Chiyuki Kishimori, Katsuyo Tsuda, Katsuhiro Fukutsuka, Masahiko Hayashida, Hitoshi Ohno
We herein report a rare case of acute basophilic leukemia with t(16;21)(p11;q22) generating the FUS-ERG fusion gene. The basophilic nature of leukemia blasts was demonstrated by cytomorphology, toluidine blue metachromasia, mature basophil-associated antigen expression, and characteristic granules under electron microscopy. The molecular link between t(16;21)/FUS-ERG and basophilic differentiation remains unclear.
December 2017: Clinical Case Reports
David Ullman, David Dorn, Soroush Rais-Bahrami, Jennifer Gordetsky
Phosphatase and Tensin Homolog (PTEN) and ETS-related Gene (ERG) mutations are commonly found in prostate cancer. Although mouse studies have demonstrated PTEN and ERG cooperatively interact during tumorigenesis, human studies examining these genes have been inconclusive. A systematic Pubmed search including original articles assessing the pathogenesis of PTEN and ERG in prostate cancer was performed. Studies examining ERG's prognostic significance have conflicting results. Studies examining PTEN and ERG simultaneously found these genes are likely to occur together but cooperative tumorigenesis functions have not been conclusively established...
December 7, 2017: Urology
Hema Mistry, Chidozie Nduka, Martin Connock, Jill Colquitt, Theodoros Mantopoulos, Emma Loveman, Renata Walewska, James Mason
Venetoclax is licensed to treat relapsed or refractory (R/R) chronic lymphocytic leukaemia (CLL). As part of the Single Technology Appraisal (STA) ID944, the National Institute for Health and Care Excellence (NICE) invited AbbVie, the manufacturer, to submit evidence on the use of venetoclax, within its licensed indication. The Evidence Review Group (ERG), Warwick Evidence, was asked to provide an independent and critical review of the submitted evidence. Evidence came from three single-arm trials in CLL patients with or without 17p deletion [del(17p])/TP53 chromosomal abnormalities...
December 8, 2017: PharmacoEconomics
A Vincent, A AlAli, H MacDonald, C VandenHoven, E Héon
PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 (Case-1; 9 years)...
December 8, 2017: Eye
Andrii Neronov
Cosmic rays could be produced via shock acceleration powered by supernovae. The supernova hypothesis implies that each supernova injects, on average, some 10^{50}  erg in cosmic rays, while the shock acceleration model predicts a power law cosmic ray spectrum with the slope close to 2. Verification of these predictions requires measurement of the spectrum and power of cosmic ray injection from supernova population(s). Here, we obtain such measurements based on γ-ray observation of the Constellation III region of the Large Magellanic Cloud...
November 10, 2017: Physical Review Letters
Alaide Chieffo, Akihito Tanaka, Gennaro Giustino, Ieva Briede, Fadi J Sawaya, Joost Daemen, Hiroyoshi Kawamoto, Emanuele Meliga, Fabrizio D'Ascenzo, Enrico Cerrato, Giulio G Stefanini, Davide Capodanno, Andrea Mangiameli, Christian Templin, Andrejs Erglis, Marie Claude Morice, Roxana Mehran, Nicolas M Van Mieghem, Sunao Nakamura, Mauro De Benedictis, Marco Pavani, Ferdinando Varbella, Marco Pisaniello, Samin K Sharma, Corrado Tamburino, Didier Tchetche, Antonio Colombo
OBJECTIVES: The aim of this study was to evaluate clinical outcomes of unprotected left main coronary artery percutaneous coronary intervention (PCI) with new-generation drug-eluting stents in a "real world" population. BACKGROUND: PCI of the unprotected left main coronary artery is currently recommended as an alternative to coronary artery bypass grafting (CABG) in selected patients. METHODS: All consecutive patients with unprotected left main coronary artery stenosis treated by PCI with second-generation drug-eluting stents were analyzed in this international, all-comers, multicenter registry...
December 11, 2017: JACC. Cardiovascular Interventions
Teemu T Turunen, Ari Koskelainen
Purpose: Electroretinography (ERG) is the gold standard in clinical examinations of retinal function. Corneal ERG is widely used for diagnostics, but ERG components from the inner retina complicate quantitative investigations of the phototransduction cascade. Transretinal ERG (TERG) recorded ex vivo enables pharmacologic isolation of signals generated by photoreceptor cells, establishing an appealing electrophysiologic method for diverse studies of phototransduction. Pharmacologically isolated TERG, however, contains components arising in the photoreceptor inner segments...
December 1, 2017: Investigative Ophthalmology & Visual Science
Christian Schön, Vithiyanjali Sothilingam, Regine Mühlfriedel, Marina Garcia Garrido, Susanne C Beck, Naoyuki Tanimoto, Bernd Wissinger, François Paquet-Durand, Martin Biel, Stylianos Michalakis, Mathias W Seeliger, Rd-Cure Consortium
Retinitis pigmentosa type 43 (RP43) is a blinding disease caused by mutations in the gene for rod phosphodiesterase 6 alpha (PDE6A). The disease process begins with a dysfunction of rod photoreceptors, subsequently followed by a currently untreatable progressive degeneration of the entire outer retina. Aiming at a curative approach via PDE6A gene supplementation, we developed a novel adeno-associated viral (AAV) vector for expression of the human PDE6A cDNA under control of the human rhodopsin promotor (rAAV8...
December 7, 2017: Human Gene Therapy
Laurence M Occelli, Christian Schön, Mathias W Seeliger, Martin Biel, Stylianos Michalakis, Simon Petersen-Jones, Rd-Cure Consortium
Mutations in the phosphodiesterase 6A gene (PDE6A) result in retinitis pigmentosa type 43 (RP43) and are responsible for about 4% of autosomal recessive RP. There is currently no treatment for this blinding condition. The aim of this project was to use a large animal model to test a gene supplementation viral vector designed to be translated for use in a clinical trial for the treatment of RP43. Seven Pde6a<sup>-/-</sup> puppies were given subretinal injections of an adeno-associated viral vector serotype 2/8 delivering human PDE6A cDNA under control of a short rhodopsin promoter (AAV8-PDE6A)...
December 6, 2017: Human Gene Therapy
L Wang, P Li, Y Tian, Z Li, C Lian, Q Ou, C Jin, F Gao, J-Y Xu, J Wang, F Wang, J Zhang, J Zhang, W Li, H Tian, L Lu, G-T Xu
Human umbilical cord mesenchymal stem cells (hUC-MSCs) are potential candidates for treating retinal degeneration (RD). To further study the biology and therapeutic effects of these cells, two hUC-MSC subpopulations, termed hUC-MSC1 and hUC-MSC2, were isolated by single-cell cloning method and their therapeutic functions were compared in RCS rat, a RD model. Although both subsets satisfied the basic requirements for hUC-MSCs, they were significantly different in morphology, proliferation rate, differentiation capacity, phenotype and gene expression...
December 5, 2017: Current Molecular Medicine
Yi Chun Kuo, Nancy Chen, Rong Kung Tsai
BACKGROUND: AZOOR was first described by Gass in 1993 as a syndrome with rapid loss of one or more extensive zones of the outer retinal segments. It is characterized by photopsia, minimal funduscopic changes, and electroretinographic abnormalities. The efficacy of systemic steroids in treating AZOOR has been previously described and advocated by the concept of autoimmune retinopathy. However, the use of intravitreal of sustained-released steroid had not been mentioned to date. CASE PRESENTATION: A 34-year-old man had sudden onset of central scotoma and photopsia in the left eye...
December 6, 2017: BMC Ophthalmology
Louise Stone
No abstract text is available yet for this article.
December 5, 2017: Nature Reviews. Urology
Jonathan Shoag, Deli Liu, Mirjam Blattner, Andrea Sboner, Kyung Park, Lesa Deonarine, Brian D Robinson, Juan Miguel Mosquera, Yu Chen, Mark A Rubin, Christopher E Barbieri
Nearly 50% of prostate cancers harbor gene fusions that lead to overexpression of the transcription factor ERG, while a mutually exclusive 10% of prostate cancers harbor recurrent mutations in the gene encoding the E3 ubiquitin ligase SPOP. Recent reports suggest that SPOP acts as a ubiquitin ligase for ERG and propose that ERG stabilization is the oncogenic effector of SPOP mutation. Here, we used human prostate cancer samples and showed that the vast majority of human SPOP-mutant cancers do not express ERG...
December 4, 2017: Journal of Clinical Investigation
Ramesh Jha, Vismapratap Sur, Arnab Bhattacharjee, Tanushri Ghosh, Vinod Kumar, Aditya Konar, Sarbani Hazra
PURPOSE: To test the intracameral safety of nepafenac and its efficacy in inhibiting prostaglandin synthesis during phacoemulsification surgery. METHODS: The safety evaluation was conducted in normal eyes of rabbits, 0.1ml of 0.3% and 1% nepafenac was injected intracamerally. Extensive studies to detect adverse response ranged from a gross examination of eyes under slit lamp biomicroscope, fluorescein dye test, Schirmer tear test, test for corneal sensitivity, intraocular pressure measurement (IOP), specular microscopy, electroretinography(ERG), and histopathological examination of intraocular tissues...
December 4, 2017: Current Eye Research
Yu Kato, Gen Hanazono, Kaoru Fujinami, Tetsuhisa Hatase, Yuichi Kawamura, Takeshi Iwata, Yozo Miyake, Kazushige Tsunoda
Purpose: To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult macular dystrophy (OMD). Methods: Four asymptomatic cases from four families were selected from a cohort of 40 subjects (16 families) with RP1L1 pathogenic variants. Clinical data of the four asymptomatic cases and three symptomatic patients in the same families were reviewed. The three asymptomatic cases did not have any visual symptoms in either eye, and one was unilaterally affected...
December 1, 2017: Investigative Ophthalmology & Visual Science
Juan Wang, Jieping Zhang, Xin Chen, Yiting Yang, Fang Wang, Weiye Li, Maihemuti Awuti, Yaping Sun, Chunpin Lian, Zongyi Li, Min Wang, Jing-Ying Xu, Caixia Jin, Haibin Tian, Furong Gao, Jingfa Zhang, Debasish Sinha, Lixia Lu, Guo-Tong Xu
miRs play critical roles in oxidative stress-related retinopathy pathogenesis. miR-365 was identified in a previously constructed library from glyoxal-treated rat Müller cell. This report explores epigenetic alterations in Müller cells under oxidative stress to develop a novel therapeutic strategy. To examine the miR-365 expression pattern, in situ hybridization and quantitative RT-PCR were performed. Bioinformatical analysis and dual luciferase report assay were applied to identify and confirm target genes...
November 28, 2017: Experimental Eye Research
Robert Hodgson, Matthew Walton, Mousumi Biswas, Teumzghi Mebrahtu, Nerys Woolacott
As part of the single technology appraisal (STA) process, the National Institute for Health and Care Excellence (NICE) invited Janssen to submit evidence on the clinical and cost effectiveness of their drug ustekinumab, an interleukin-12/23 inhibitor, for treating moderate-to-severe active Crohn's disease (CD). The Centre for Reviews and Dissemination (CRD) and Centre for Health Economics (CHE) Technology Appraisal Group at the University of York was commissioned to act as the independent Evidence Review Group (ERG)...
November 30, 2017: PharmacoEconomics
Norbert Pfeiffer, Bogomil Voykov, Giulia Renieri, Katharina Bell, Paul Richter, Melanie Weigel, Hagen Thieme, Barbara Wilhelm, Katrin Lorenz, Martin Feindor, Katja Wosikowski, Michel Janicot, Daniela Päckert, Regina Römmich, Carola Mala, Petra Fettes, Eugen Leo
PURPOSE: To evaluate the safety and tolerability of intravitreal ISTH0036, an antisense oligonucleotide selectively targeting transforming growth factor beta 2 (TGF-β2), in patients with primary open angle glaucoma (POAG) undergoing trabeculectomy (TE; glaucoma filtration surgery). METHODS: In this prospective phase I trial glaucoma patients scheduled for TE with mitomycin C (MMC) received a single intravitreal injection of ISTH0036 at the end of surgery in escalating total doses of 6...
2017: PloS One
Elisa Cerri, Carlotta Fabiani, Chiara Criscuolo, Luciano Domenici
Visual responses to gratings alternating in contrast have been studied in humans and several mammalian species. Previous evidence from human patients and animal models of neurodegeneration has highlighted the importance to record simultaneously the pattern electroretinogram (P-ERG) and visual evoked cortical potentials (VEPs) to investigate retinal and post-retinal sites of neurodegeneration.In view of the increasing importance of research on experimental models of neurodegenerative diseases, we present here the parametric properties of visual evoked responses in animal models of glaucoma and Alzheimer's disease...
2018: Methods in Molecular Biology
Samira Ebdali, Bijan Hashemi, Hassan Hashemi, Ebrahim Jafarzadehpur, Soheila Asgari
PURPOSE: To evaluate the effects of retinitis pigmentosa (RP) on time, frequency, and time-frequency components of Xenon flash ERG signals using Fourier and wavelet transforms. METHODS: Xenon flash ERG was done in 18 eyes of nine RP patients and 20 normal eyes. After examining latency and amplitude, Fourier and wavelet transforms were performed using MATLAB software. Then, we extracted the mode frequency from the Fourier transform and main frequencies and their occurrence time from the wavelet transform...
November 30, 2017: International Ophthalmology
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