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https://www.readbyqxmd.com/read/28623239/-ccug-n-rna-toxicity-in-a-drosophila-model-for-myotonic-dystrophy-type-2-dm2-activates-apoptosis
#1
Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions -- (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106)...
June 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28607957/analysis-of-patient-outcomes-following-proton-radiation-therapy-for-retinoblastoma
#2
Kent W Mouw, Beow Y Yeap, Paul Caruso, Aaron Fay, Madhusmita Misra, Roshan V Sethi, Shannon M MacDonald, Yen-Lin Chen, Nancy J Tarbell, Torunn I Yock, Suzanne K Freitag, John E Munzenrider, Eric Grabowski, Michelle Katz, Karen Kuhlthau, Dawn DeCastro, Gena Heidary, Jessica Ciralsky, Shizuo Mukai, Helen A Shih
PURPOSE: Proton radiotherapy (PRT) is used in the treatment of retinoblastoma (RB) and has the potential to minimize exposure of normal tissue to radiation and thus decrease risk of toxicity and second malignancies. However, comprehensive analyses of long-term patient outcomes are not available. METHODS: RB patients treated with PRT at our institution between 1986 and 2012 were invited to return for participation in a study designed to assess long-term outcomes...
January 2017: Advances in Radiation Oncology
https://www.readbyqxmd.com/read/28591814/abnormal-gray-matter-shape-thickness-and-volume-in-the-motor-cortico-subcortical-loop-in-idiopathic-rapid-eye-movement-sleep-behavior-disorder-association-with-clinical-and-motor-features
#3
Shady Rahayel, Ronald B Postuma, Jacques Montplaisir, Christophe Bedetti, Simona Brambati, Julie Carrier, Oury Monchi, Pierre-Alexandre Bourgouin, Malo Gaubert, Jean-François Gagnon
Idiopathic rapid eye movement sleep behavior disorder (iRBD) is a major risk factor for Parkinson's disease and dementia with Lewy bodies. Anatomical gray matter abnormalities in the motor cortico-subcortical loop areas remain under studied in iRBD patients. We acquired T1-weighted images and administrated quantitative motor tasks in 41 patients with polysomnography-confirmed iRBD and 41 healthy subjects. Cortical thickness and voxel-based morphometry (VBM) analyses were performed to investigate local cortical thickness and gray matter volume changes, vertex-based shape analysis to investigate shape of subcortical structures, and structure-based volumetric analyses to investigate volumes of subcortical and brainstem structures...
June 7, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28588112/the-hoorn-diabetes-care-system-dcs-cohort-a-prospective-cohort-of-persons-with-type-2-diabetes-treated-in-primary-care-in-the-netherlands
#4
Amber Awa van der Heijden, Simone P Rauh, Jacqueline M Dekker, Joline W Beulens, Petra Elders, Leen M 't Hart, Femke Rutters, Nienke van Leeuwen, Giel Nijpels
PURPOSE: People with type 2 diabetes (T2D) have a doubled morbidity and mortality risk compared with persons with normal glucose tolerance. Despite treatment, clinical targets for cardiovascular risk factors are not achieved. The Hoorn Diabetes Care System cohort (DCS) is a prospective cohort representing a comprehensive dataset on the natural course of T2D, with repeated clinical measures and outcomes. In this paper, we describe the design of the DCS cohort. PARTICIPANTS: The DCS consists of persons with T2D in primary care from the West-Friesland region of the Netherlands...
June 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28545735/retinoblastoma-vitreous-seed-clouds-class-3-a-comparison-of-treatment-with-ophthalmic-artery-chemosurgery-with-or-without-intravitreous-and-periocular-chemotherapy
#5
Jasmine H Francis, Saipriya Iyer, Y Pierre Gobin, Scott E Brodie, David H Abramson
PURPOSE: To compare the efficacy and toxicity of treating class 3 retinoblastoma vitreous seeds with ophthalmic artery chemosurgery (OAC) alone versus OAC with intravitreous chemotherapy. DESIGN: Retrospective cohort study. PARTICIPANTS: Forty eyes containing clouds (class 3 vitreous seeds) of 40 retinoblastoma patients (19 treated with OAC alone and 21 treated with OAC plus intravitreous and periocular chemotherapy). METHODS: Ocular survival, disease-free survival and time to regression of seeds were estimated with Kaplan-Meier estimates...
May 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28521845/hiv-infected-individuals-on-long-term-antiretroviral-therapy-are-at-higher-risk-for-ocular-disease
#6
E Schaftenaar, N S Khosa, G S Baarsma, C Meenken, J A McINTYRE, A D M E Osterhaus, G M G M Verjans, R P H Peters
Introduction of antiretroviral therapy (ART) has dramatically reduced the incidence of infectious ocular diseases in human immunodeficiency virus (HIV)-infected individuals. However, the effects of long-term ART and chronic HIV infection on the eye are ill-defined. This study determined the occurrence and severity of ocular diseases among 342 participants in a rural South African setting: HIV-naïve (n = 105), HIV-infected ART-naïve (n = 16), HIV-infected on ART for 36 months (long-term ART; n = 165). More HIV-infected participants presented with an external eye condition, in particular blepharitis, than HIV-naïve individuals (18% vs...
May 19, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28480834/the-conjunctiva-associated-lymphoid-tissue-in-chronic-ocular-surface-diseases
#7
Rodolfo Mastropasqua, Luca Agnifili, Vincenzo Fasanella, Mario Nubile, Agbeanda A Gnama, Gennaro Falconio, Paolo Perri, Silvio Di Staso, Cesare Mariotti
Ocular surface diseases (OSDs) represent a widely investigated field of research given their growing incidence and the negative impact on quality of life. During OSDs, cytokines generated by damaged epithelia trigger and deregulate the lymphoid cells composing the eye-associated lymphoid tissues, inducing an immune-mediated chronic inflammation that amplifies and propagates the disease during time. The conjunctiva-associated lymphoid tissue (CALT), given its particular position that permits immune cells covering the cornea, might play a crucial role in the development of OSDs...
May 8, 2017: Microscopy and Microanalysis
https://www.readbyqxmd.com/read/28469101/retrospective-analysis-of-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-88-chinese-patients
#8
Li Wang, Xue-Ling Mei
BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening diseases with high mortality rates. This study was designed to analyze the pathogenic factors, clinical manifestations, complications, treatment, and prognosis of SJS/TEN and to explore the differences between surviving and deceased patients. METHODS: SJS/TEN patients admitted to Beijing Friendship Hospital from January 2006 to December 2015 were included in the study...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28456420/the-evolution-of-outer-retinal-tubulation-a-neurodegeneration-and-gliosis-prominent-in-macular-diseases
#9
Rosa Dolz-Marco, Katie M Litts, Anna C S Tan, K Bailey Freund, Christine A Curcio
PURPOSE: To document outer retinal tubulation (ORT) formation in advanced retinal disorders. DESIGN: Retrospective, observational study. PARTICIPANTS: Consecutive cases with retinal diseases showing outer retinal disruption and atrophy of the retinal pigment epithelium (RPE) associated with ORT on spectral-domain (SD) optical coherence tomography (OCT) at the final available visit. METHODS: Cross-sectional SD OCT scans showing ORT at the last available visit were compared with eye-tracked baseline scans...
April 26, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28455280/-the-patient-is-speaking-discovering-the-patient-voice-in-ophthalmology
#10
REVIEW
Samera Dean, Jonathan M Mathers, Melanie Calvert, Derek G Kyte, Dolores Conroy, Annie Folkard, Sue Southworth, Philip I Murray, Alastair K Denniston
Eye disease can be devastating. The most feared impact is sight loss, but in a number of ophthalmic conditions, there can be wide-ranging systemic, psychological, emotional and social effects of both the disease and its treatment. External tests of visual function, such as visual acuity, are inadequate to understand the overall impact of ophthalmic disease on a patient's functional vision or daily life. This can lead to a discordance between the patient's priorities and perspective on the one hand and the efforts of clinicians and other stakeholders on the other hand...
June 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28438414/predictors-of-trachomatous-trichiasis-surgery-outcome
#11
Esmael Habtamu, Tariku Wondie, Sintayehu Aweke, Zerihun Tadesse, Mulat Zerihun, Bizuayehu Gashaw, Guadie S Wondimagegn, Hiwot D Mengistie, Saul N Rajak, Kelly Callahan, Helen A Weiss, Matthew J Burton
PURPOSE: Unfavorable outcomes after trachomatous trichiasis (TT) surgery are undermining the global trachoma elimination effort. This analysis investigates predictors of postoperative TT (PTT), eyelid contour abnormalities (ECAs), and granuloma in the 2 most common TT surgery procedures: posterior lamellar tarsal rotation (PLTR) and bilamellar tarsal rotation (BLTR). DESIGN: Secondary data analysis from a randomized, controlled, single-masked clinical trial. PARTICIPANTS: A total of 1000 patients with TT, with lashes touching the eye or evidence of epilation, in association with tarsal conjunctival scarring...
April 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28399035/comparative-evaluation-of-tacrolimus-versus-interferon-alpha-2b-eye-drops-in-the-treatment-of-vernal-keratoconjunctivitis-a-randomized-double-masked-study
#12
Habibollah Zanjani, Mohammad Naim Aminifard, Abdolhossein Ghafourian, Mohsen Pourazizi, Alireza Maleki, Mohammed Arish, Mahnaz Shahrakipoor, Mohammad Reza Rohani, Mojtaba Abrishami, Ehsan Khafri Zare, Farhad Barzegar Jalali
PURPOSE: Vernal keratoconjunctivitis (VKC) is a bilateral, chronic, external ocular inflammatory disorder that mainly affects patients in their first or second decade. This study was designed to compare tacrolimus and interferon alpha-2b (IFN alpha-2b) eye drops in the treatment of VKC. METHODS: In this randomized, double-masked clinical trial, 40 consecutive patients with VKC were sent to a referral eye hospital in a tropical region southeast of Iran. Patients were randomly assigned to receive either 0...
June 2017: Cornea
https://www.readbyqxmd.com/read/28350623/ocular-surface-squamous-neoplasia-in-papillon-lef%C3%A3-vre-syndrome-outcome-at-long-term-follow-up-of-12-years
#13
Swathi Kaliki, Swati Singh, Swarnalata Gowrishankar, Vijay Anand P Reddy
PURPOSE: To discuss the association between ocular surface squamous neoplasia (OSSN) and Papillon-Lefèvre syndrome (PLS) and present the long-term outcome in a patient with these diseases. METHODS: Case report. RESULTS: A 14-year-old boy presented with a raised pigmented mass lesion at the limbus in the right eye, which was clinically suggestive of OSSN. He also had palmoplantar hyperkeratosis and periodontosis suggestive of PLS. Excision biopsy of the lesion confirmed the diagnosis of OSSN...
June 2017: Cornea
https://www.readbyqxmd.com/read/28347615/the-p-thr11met-mutation-in-c19orf12-is-frequent-among-adult-turkish-patients-with-mpan
#14
Simone Olgiati, Okan Doğu, Zeynep Tufekcioglu, Yunus Diler, Esen Saka, Murat Gultekin, Hakan Kaleagasi, Demy Kuipers, Josja Graafland, Guido J Breedveld, Marialuisa Quadri, Reyhan Sürmeli, Gülin Sünter, Tuğrul Doğan, Ayşe Destina Yalçın, Başar Bilgiç, Bülent Elibol, Murat Emre, Hasmet A Hanagasi, Vincenzo Bonifati
INTRODUCTION: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands with idiopathic NBIA. We also performed haplotype analysis in families with a recurrent C19orf12 mutation...
March 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28345569/recent-advances-and-challenges-in-the-management-of-retinoblastoma
#15
Bhavna Chawla, Rashmi Singh
The treatment of retinoblastoma (Rb) has improved significantly in recent times. Worldwide, there is an increasing trend to use conservative treatment modalities that aim to preserve the globe as well as vision with minimum morbidity. Recently, the use of targeted delivery of chemotherapy to the eye in the form of selective intra-arterial and intravitreal chemotherapy has shown promising results. Radiotherapy is beneficial in selected cases, either in the form of plaque brachytherapy or as external beam radiotherapy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28297040/repair-of-total-tractional-retinal-detachment-in-norrie-disease-report-of-technique-and-successful-surgical-outcome
#16
Bozho Todorich, Aristomenis Thanos, Yoshihiro Yonekawa, Antonio Capone
Norrie disease is a rare, but devastating cause of pediatric retinal detachment, universally portending a poor visual prognosis. This paper describes successful surgical management of an infant with total retinal detachment associated with Norrie disease mutation. The infant was a full-term white male who presented with bilateral total funnel retinal detachments (RDs). He underwent genetic testing, which demonstrated single-point mutation 133 G>A transition in exon 2 of the NDP gene. The retinal detachment was managed with translimbal iridectomy, lensectomy, capsulectomy, and vitrectomy...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28292273/ocular-bacterial-infections-at-quiha-ophthalmic-hospital-northern-ethiopia-an-evaluation-according-to-the-risk-factors-and-the-antimicrobial-susceptibility-of-bacterial-isolates
#17
Mebrahtu Teweldemedhin, Muthupandian Saravanan, Araya Gebreyesus, Dawit Gebreegziabiher
BACKGROUND: External and intraocular infections can lead to visual impairments, which is a major public health problem. Bacteria are the most frequent pathogens affecting ocular structures; the increasing rate of antimicrobial drug resistance is a worldwide concern. The aim of this study was to determine the occurrence of bacteria in ocular infections, their antimicrobial susceptibility patterns, and risk factors in bacterial ocular infection. METHODS: A hospital based cross-sectional study was conducted from September 2015 to December 2015 at Quiha Ophthalmic Hospital, Tigray, northern Ethiopia...
March 14, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28282312/effects-of-the-external-environment-on-dry-eye-disease
#18
Margarita Calonge, Jose Pinto-Fraga, María J González-García, Amalia Enríquez-de-Salamanca, Alberto López-de la Rosa, Itziar Fernández, Alberto López-Miguel
No abstract text is available yet for this article.
2017: International Ophthalmology Clinics
https://www.readbyqxmd.com/read/28275122/a-statistical-model-for-brain-networks-inferred-from-large-scale-electrophysiological-signals
#19
Catalina Obando, Fabrizio De Vico Fallani
Network science has been extensively developed to characterize the structural properties of complex systems, including brain networks inferred from neuroimaging data. As a result of the inference process, networks estimated from experimentally obtained biological data represent one instance of a larger number of realizations with similar intrinsic topology. A modelling approach is therefore needed to support statistical inference on the bottom-up local connectivity mechanisms influencing the formation of the estimated brain networks...
March 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28257379/use-of-crossed-polarizers-to-enhance-images-of-the-eyelids
#20
Ryan OʼSullivan, Lisa M Tom, Vatinee Y Bunya, William C Nyberg, Mina Massaro-Giordano, Ebenezer Daniel, Eli Smith, David H Brainard, James Gee, Maureen G Maguire, Richard A Stone
PURPOSE: To describe imaging of the external eye with Crossed Polarizers to enhance clinically important features in digital photographs of the eyelids. METHODS: External photographs with and without crossed polarizing filters were taken of patients with blepharitis and controls with no clinical eye pathology. RESULTS: Photographing eyelid skin through Crossed Polarizers decreased reflections on the skin surface and improved visualization of eyelid telangiectasias and blood vessels in patients with a broad range of skin pigmentation and ethnicities...
May 2017: Cornea
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