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https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#1
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28636126/bilateral-diffuse-uveal-melanocytic-proliferation-case-report-and-literature-review
#2
REVIEW
Kristian Klemp, Jens Folke Kiilgaard, Steffen Heegaard, Tove Nørgaard, Mette Klarskov Andersen, Jan Ulrik Prause
Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid cataract formation and uveal melanocytic tumours. The awareness and documentation of BDUMP has increased during the past decade, and the increasing amount of data collected demonstrates the effect of treatment with plasmapheresis and the value of diagnostic tools in BDUMP such as genetic and immunologic investigations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#3
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#4
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28633137/incidence-and-characteristics-of-congenital-cataract-surgery-in-france-from-2010-to-2012-the-episafe-program
#5
Vincent Daien, Annick Le Pape, Didier Heve, Max Villain, Dominique Bremond Gignac
INTRODUCTION: Prevention of visual impairment due to congenital cataract is an international priority as part of VISION 2020 - The Right to Sight, the joint initiative of the World Health Organization and the International Agency for the Prevention of Blindness. The present study is part of the Epidemiology and Safety (EPISAFE) collaborative program aiming at assessing the epidemiology and safety of interventions in ophthalmology. METHODS: All children who underwent cataract surgery before the age of 1 year in France between January 2010 and December 2012 were identified by using the Programme de Médicalisation des Systèmes d'Information...
June 20, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#6
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28632734/choroidal-thickness-in-patients-with-coronary-artery-disease
#7
Meleha Ahmad, Patrick A Kaszubski, Lucy Cobbs, Harmony Reynolds, Roland Theodore Smith
PURPOSE: To evaluate choroidal thickness (CTh) in patients with coronary artery disease (CAD) compared to healthy controls. DESIGN: Cross-sectional. METHODS: Setting: Ambulatory clinic of a large city hospital. Patient population: Thirty-four patients had documented CAD, defined as history of >50% obstruction in at least one coronary artery on cardiac catheterization, positive stress test, ST elevation myocardial infarction, or revascularization procedure...
2017: PloS One
https://www.readbyqxmd.com/read/28632030/ultraviolet-b-radiation-stimulates-the-interaction-between-nuclear-factor-of-activated-t-cells-5-nfat5-and-nuclear-factor-kappa-b-nf-%C3%AE%C2%BAb-in-human-lens-epithelial-cells
#8
Inyoung Chung, Young-Sool Hah, SunMi Ju, Ji-Hye Kim, Woong-Sun Yoo, Hee-Young Cho, Ji-Myong Yoo, Seong-Wook Seo, Wan-Sung Choi, Seong-Jae Kim
PURPOSE: Nuclear factor-kappa B (NF-κB) has been proposed as a therapeutic target for the treatment of cataracts. The authors investigated the relationship between nuclear factor of activated T cells 5 (NFAT5) and NF-κB in ultraviolet B (UVB)-irradiated human lens epithelial (HLE) cells. METHODS: Human lens epithelial B-3 (HLE-B3) cells were exposed to UVB light at a dose of 10 mJ/cm(2) and then incubated for 24 h. Cell viability was assessed by using the Cell Counting Kit-8 (CCK-8) assay...
February 26, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28631430/internal-cyclopexy-for-complicated-traumatic-cyclodialysis-cleft
#9
Cong Wang, Xiao-Yan Peng, Qi-Sheng You, Yi Liu, Xiu-Qin Pang, Peng-Fei Zheng, Jost B Jonas
PURPOSE: To assess the surgical and functional outcome of internal direct cyclopexy as therapy of complicated traumatic cyclodialysis. METHODS: The single-centre interventional case-series study included eyes with traumatic cyclodialysis who had consecutively been treated. Internal cyclopexy was performed using double-armed sutures introduced into the eye through the pars plana opposite to the cyclodialysis cleft and which were laid parallel to limbus. Additional procedures included cataract surgery, and pars plana vitrectomy...
June 20, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28631182/association-between-the-8-oxoguanine-dna-glycosylase-gene-ser326cys-polymorphism-and-age-related-cataract-a-systematic-review-and-meta-analysis
#10
Xiao-Cui Liu, Xiao-Hui Guo, Bing Chen, Zhao-Hui Li, Xiao-Fei Liu
PURPOSE: To investigate the association between the 8-oxoguanine DNA glycosylase (OGG1) gene Ser326Cys (rs1052133) polymorphism and age-related cataract (ARC). METHODS: MEDLINE and EMBASE were searched to identify potential studies published before May 19, 2017, investigating the association between the OGG1 gene Ser326Cys polymorphism and ARC risk. The quality of eligible studies was assessed using the Newcastle-Ottawa Scale tool. The association between the OGG1 gene Ser326Cys polymorphism and ARC was analyzed using meta-analysis...
June 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28630791/corticosteroid-treatment-in-diabetic-macular-edema
#11
REVIEW
Burcu Nurözler Tabakcı, Nurten Ünlü
Diabetic macular edema is the most common cause of visual impairment in patients with diabetes mellitus. The pathogenesis of macular edema is complex and multifactorial. For many years, laser photocoagulation has been considered the standard therapy for the treatment of diabetic macular edema; however, few patients achieve significant improvements in visual acuity. Today the intravitreal administration of anti-inflammatory or anti-angiogenic agents together with the use of laser photocoagulation represents the standard of care for the treatment of this complication...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630766/corneal-endothelial-characteristics-central-corneal-thickness-and-intraocular-pressure-in-a-population-of-chinese-age-related-cataract-patients
#12
Yingmei Li, Zhentao Fu, Jian Liu, Miao Li, Yuguang Zhang, Xinyi Wu
PURPOSE: To describe corneal endothelial characteristics, central corneal thickness, and intraocular pressure in a population of Chinese age-related cataract patients and to determine the effects of age, gender, hypertension, and body mass index (BMI). METHODS: 1551 eyes were examined preoperatively. The parameters measured were endothelial cell density (CD), average cell area (CA), coefficient of variation (CV), cell hexagonality (HEX), central corneal thickness (CCT), intraocular pressure (IOP), and axial length (AL)...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630764/impact-of-b-scan-averaging-on-spectralis-optical-coherence-tomography-image-quality-before-and-after-cataract-surgery
#13
Dominika Podkowinski, Ehsan Sharian Varnousfaderani, Christian Simader, Hrvoje Bogunovic, Ana-Maria Philip, Bianca S Gerendas, Ursula Schmidt-Erfurth, Sebastian M Waldstein
BACKGROUND AND OBJECTIVE: To determine optimal image averaging settings for Spectralis optical coherence tomography (OCT) in patients with and without cataract. STUDY DESIGN/MATERIAL AND METHODS: In a prospective study, the eyes were imaged before and after cataract surgery using seven different image averaging settings. Image quality was quantitatively evaluated using signal-to-noise ratio, distinction between retinal layer image intensity distributions, and retinal layer segmentation performance...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28629380/retinal-and-vitreous-metastases-from-hepatocholangiocarcinoma
#14
Anna Praidou, Sarita Jacob, Luciane Irion, Ramesh Sivaraj, Carl Groenewald, Sarah E Coupland, Heinrich Heimann
BACKGROUND: To report a case of metastatic hepatocholangiocarcinoma to the vitreous and retina. CASE PRESENTATION: A 70-year-old male, who was recently diagnosed with hepatocholangiocarcinoma, was complaining of floaters in his right eye over the past 5 months and was referred to the Liverpool Ocular Oncology Centre. On presentation, his visual acuity in the right eye was 6/24. Fundus exam revealed a whitish, unilateral, full-thickness retinal lesion at the inferotemporal arcade of his right eye, with vitreous infiltration and subretinal fluid...
June 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28629328/impact-of-systematic-capacity-building-on-cataract-surgical-service-development-in-25-hospitals
#15
Katherine Judson, Paul Courtright, Thulsiraj Ravilla, Rohit Khanna, Ken Bassett
BACKGROUND: This study measured the effectiveness and cost of a capacity building intervention in 25 eye hospitals in South Asia, East Africa and Latin America over 4 years. The intervention involved eye care non-governmental organizations or high-performing eye hospitals acting as "mentors" to underperforming eye hospitals- "mentees" in 10 countries. Intervention activities included systematic planning and support for training and key equipment purchases as well as hospital-specific mentoring which focused on strengthening leadership, increasing the volume and equity of community outreach, improving surgical quality and volume, strengthening organizational and financial management and streamlining operational processes...
June 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28629164/cataract-surgery-performed-by-high-frequency-ldv-z8-femtosecond-laser-safety-efficacy-and-its-physical-properties
#16
Bojan Pajic, Zeljka Cvejic, Brigitte Pajic-Eggspuehler
BACKGROUND: The aim of our study was to investigate the safety and efficacy of the LDV Z8 femtosecond laser in cataract surgery compared to the conventional procedure. METHODS: This prospective study was performed at the Swiss Eye Research Foundation, Eye Clinic ORASIS, Reinach, Switzerland. The study included 130 eyes from 130 patients: 68 treated with femtosecond laser-assisted cataract surgery (FLACS) using the FEMTO LDV Z8 and 62 treated with conventional phacoemulsification...
June 18, 2017: Sensors
https://www.readbyqxmd.com/read/28628490/comparison-of-efficacy-of-difluprednate-0-05-and-loteprednol-gel-0-5-after-cataract-surgery
#17
Bryan Abessi, Lauren Brooksby, Robert L Schultze
PURPOSE: To compare the outcomes and complications of topical difluprednate 0.05% and loteprednol gel 0.5% after routine cataract surgery. METHODS: Subjects received either difluprednate emulsion 0.05% (n=30 eyes) or loteprednol gel 0.5% (n=30 eyes) after routine cataract surgery. Topical steroid drops were initiated 3 days before cataract surgery and continued for 2 weeks postoperatively. Anterior chamber (AC) cell grade, corneal edema, corneal pachymetry, visual acuity, ocular surface quality (Oxford scale), and intraocular pressure (IOP) were evaluated at 1 day, 1 week, and 1 month postoperatively...
June 16, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28628441/novel-retinal-lesion-in-ebola-survivors-sierra-leone-2016
#18
Paul J Steptoe, Janet T Scott, Julia M Baxter, Craig K Parkes, Rahul Dwivedi, Gabriela Czanner, Matthew J Vandy, Fayiah Momorie, Alimamy D Fornah, Patrick Komba, Jade Richards, Foday Sahr, Nicholas A V Beare, Malcolm G Semple
We conducted a case-control study in Freetown, Sierra Leone, to investigate ocular signs in Ebola virus disease (EVD) survivors. A total of 82 EVD survivors with ocular symptoms and 105 controls from asymptomatic civilian and military personnel and symptomatic eye clinic attendees underwent ophthalmic examination, including widefield retinal imaging. Snellen visual acuity was <6/7.5 in 75.6% (97.5% CI 63%-85.7%) of EVD survivors and 75.5% (97.5% CI 59.1%-87.9%) of controls. Unilateral white cataracts were present in 7...
July 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28628342/effect-of-green-tea-polyphenol-epigallocatechin-3-gallate-on-the-aggregation-of-%C3%AE-a-66-80-peptide-a-major-fragment-of-%C3%AE-a-crystallin-involved-in-cataract-development
#19
Vijay Kumar, Shalini Gour, Ocan Simon Peter, Shraddha Gandhi, Pankaj Goyal, Janmejay Pandey, Ram Swaroop Harsolia, Jay Kant Yadav
PURPOSE: Crystallin is a major protein present in eye lens. Peptide fragment αA(66-80) derived from αA-crystallin possesses high aggregation propensity and forms amyloid-like structures. αA(66-80) aggregates are known to interact with soluble crystallins and destabilize native structures that subsequently undergo aggregation. Crystallin aggregation in eye lens leads to reduction in lens opacity, the condition generally referred to as a cataract. Thus, αA(66-80) aggregation appears to be an important event during cataract development, and therefore, inhibition of αA(66-80) aggregation may be an attractive strategy to intervene in cataract development...
June 19, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28627981/early-vitrectomy-for-dense-vitreous-hemorrhage-in-adults-with-non-traumatic-and-non-diabetic-retinopathy
#20
Ting Zhang, Jingjing Zhang, Xiaolei Sun, Jingyi Tian, Weiyun Shi, Gongqiang Yuan
Objective To evaluate the etiologies for dense vitreous hemorrhage in adults with non-traumatic and reveal management of early vitrectomy for the disease. Methods Study included 105 eyes from 105 patients. Outcome measures were etiologies of vitreous hemorrhage, formation of retinal and/or disk neovascular membrane (NVM), incidence of retinal tear and detachment, visual acuity (VA) and postoperative complications. Results Mean time between presentation and surgery was 7.1 days. The most common etiologies were retinal vein occlusion (RVO) (58...
January 1, 2017: Journal of International Medical Research
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