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https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#1
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28430993/a-multi-systemic-mitochondrial-disorder-due-to-a-dominant-p-y955h-disease-variant-in-dna-polymerase-gamma
#2
Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E S Kauppila, Bertil Macao, Florian A Schober, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (mtDNA) integrity and maintenance. On a molecular level, depending on their location within the enzyme, mutations either lead to mtDNA depletion or the accumulation of multiple mtDNA deletions, and in some cases these molecular changes can be correlated to the clinical presentation...
April 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28430806/incidence-and-risk-factors-for-post-penetrating-keratoplasty-glaucoma-a-systematic-review-and-meta-analysis
#3
Suqian Wu, Jianjiang Xu
OBJECTIVES: To establish the incidence and risk factors for post penetrating keratoplasty glaucoma (PKKG). METHODS: Studies published between 1947 and 2016 regarding penetrating keratoplasty (PK) were identified using an electronic search and reviewed. For search purpose, PKKG was defined as ocular hypertension (> 21mmHg) after PK. The incidence and risk factors of PKKG were extracted for all studies. Pooled incidence, odd ratios (ORs) and 95% confidence intervals (CIs) were calculated...
2017: PloS One
https://www.readbyqxmd.com/read/28430328/outcome-of-various-hydrophobic-acrylic-intraocular-lens-implantations-in-children-with-congenital-cataract
#4
Jaspreet Sukhija, Savleen Kaur, Jagat Ram, Sonam Yangzes, Siddharth Madan, Jitender Jinagal
PURPOSE: To evaluate performance of different intraocular lenses (IOLs) after cataract surgery in children aged less than 2 years with regards to rates of visual axis opacification (VAO). METHODS: This was a retrospective chart review of children <2 years of age undergoing cataract surgery with primary posterior capsulotomy, anterior vitrectomy, and IOL over a period of 5 years with minimum follow-up of 1 year at a tertiary care institute. Children with microphthalmos, persistent fetal vasculature, traumatic cataract, aphakia, secondary IOLs, or any other coexisting ocular disease were excluded...
April 13, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28430323/povidone-iodine-3-minute-exposure-time-is-viable-in-preparation-for-cataract-surgery
#5
Chu Luan Nguyen, Lawrence J Oh, Eugene Wong, Ian C Francis
PURPOSE: Povidone-iodine (PI) is widely used to reduce the preoperative conjunctival bacterial load. This study aimed to evaluate the employment of PI 10% in an attempt to sterilize the ocular surface prior to cataract surgery, and to show that PI could be left in contact for 3 minutes. The viability of this exposure time in clinical practice, associated adverse events, and visual outcomes were documented. METHODS: In this prospective cohort study, phacoemulsification cataract surgery was performed in 604 patients by a single surgeon...
April 7, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28430320/remnant-extraction-by-using-an-intraocular-lens-injector-with-essential-flow
#6
Momoko Yamakawa, Mami Kusaka, Shogo Yamada, Masayuki Akimoto
PURPOSE: To describe a new technique for remnant removal in cases of posterior capsular rupture during cataract surgery and Soemmering ring extraction during intraocular lens (IOL) removal. METHODS: An IOL injector, inserted into the anterior chamber, provides a new exit for residual lens fragments. Passive fluid flow, supplied by an anterior chamber maintainer or some ocular viscoelastic device (OVD) injection, delivers the residual fragments into a lumen of the injector in assistance with a second device such as a phaco-chopper and vitreous cutter...
April 5, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28430177/the-prevalence-of-visual-impairment-and-blindness-in-underserved-rural-areas-a-crucial-issue-for-future
#7
H Hashemi, A Yekta, E Jafarzadehpur, A Doostdar, H Ostadimoghaddam, M Khabazkhoob
PurposeTo determine the prevalence of visual impairment and blindness in underserved Iranian villages and to identify the most common cause of visual impairment and blindness.Patients and methodsMultistage cluster sampling was used to select the participants who were then invited to undergo complete examinations. Optometric examinations including visual acuity, and refraction were performed for all individuals. Ophthalmic examinations included slit-lamp biomicroscopy and ophthalmoscopy. Visual impairment was determined according to the definitions of the WHO and presenting vision...
April 21, 2017: Eye
https://www.readbyqxmd.com/read/28429145/cataract-and-early-nystagmus-due-to-galactokinase-deficiency
#8
Vladimir Bzduch, Dana Tomcikova, Anton Gerinec, Darina Behulova
No abstract text is available yet for this article.
April 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28428970/changes-in-anterior-segment-parameters-following-pars-plana-vitrectomy-measured-by-ultrasound-biomicroscopy-ubm
#9
Zahra Ghomi, Fariba Ghassemi
Despite being a posterior segment ocular surgery, pars plana vitrectomy (PPV) may also affect anterior segment parameters. We aimed to investigate anterior segment alterations following PPV using ultrasound biomicroscopy (UBM) to visualize the structural anatomy of the eye. In this study, we enrolled phakic patients undergoing PPV (as the sole procedure). The anterior chamber depth, crystalline lens anterior-posterior (AP) diameter, anterior chamber angle, ciliary body dimensions, and integrity of the ciliary zonules and posterior capsule were assessed using UBM before and at least 3 months after PPV...
2017: Medical Hypothesis, Discovery and Innovation in Ophthalmology
https://www.readbyqxmd.com/read/28428923/the-long-term-outcome-of-the-management-of-the-posterior-capsule-in-pseudophakic-children
#10
Malcolm R Ing
This is a long term study of the treatment of the posterior lens capsule in the management of bilateral cataract extraction and insertion of 42 intraocular lenses in 21 children. The purpose of the current study was to compare the long-term outcome of eyes treated by the two different methods of surgery of the posterior lens capsule in bilateral cataract and intraocular lens implantation in children. The author performed an independent ocular exam on the children selected from a consecutive series at 4 different institutions, followed for a minimum of 5 years...
April 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/28428050/socioeconomic-disparity-in-global-burden-of-cataract-an-analysis-for-2013-with-time-trends-since-1990
#11
Lixia Lou, Jingyi Wang, Peifang Xu, Xin Ye, Juan Ye
PURPOSE: To assess socioeconomic disparity in global burden of cataract, by using disability-adjusted life years (DALYs). DESIGN: International, comparative burden-of-disease study. METHODS: Published data on national age-standardized DALY rates caused by cataract and human development index (HDI) between 1990 and 2013 were obtained. The association between age-standardized DALY rates and HDI in 2013 was analyzed. The health-related Gini coefficients and the concentration indexes were calculated to explore the trends in between-country inequality in cataract burden from 1990 to 2013...
April 17, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28427069/practical-lessons-from-protocol-i-for-the-management-of-diabetic-macular-edema
#12
Lekha Mukkamala, Neelakshi Bhagat, Marco A Zarbin
Protocol I, a multicenter randomized clinical trial, compared the visual outcomes of patients treated with 0.5 mg intravitreal ranibizumab with either prompt or deferred (by 24 weeks laser), 4 mg intravitreal triamcinolone with prompt laser, or sham injection with prompt laser for the treatment of center-involving diabetic macular edema (DME). A total of 854 adult patients with type I or II diabetes and any level of non-proliferative diabetic retinopathy or proliferative retinopathy with adequate panretinal photocoagulation, with best-corrected visual acuity (BCVA) of 78 to 24 ETDRS letters (Snellen equivalent of 20/32 to 20/320) and visual loss attributed to macular edema, or retinal thickening with central subfield thickness of at least 250 µm by OCT were enrolled...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28427068/intravitreal-steroids-in-diabetic-macular-edema
#13
Rosangela Lattanzio, Maria Vittoria Cicinelli, Francesco Bandello
Over the past decade, great strides have been made in the management of diabetic macular edema (DME). Therapeutic alternatives now include focal/grid laser photocoagulation, vitreo-retinal surgery, and intraocular injection of anti-angiogenic and steroid molecules. Intravitreal administration of steroids represents a fundamental alternative for recalcitrant and naive eyes with DME, especially in those cases when anti-vascular endothelial growth factor (VEGF) agents are contraindicated or a treatment regimen with fewer intravitreal injections is required...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28426745/objective-classification-of-zonular-weakness-based-on-lens-movement-at-the-start-of-capsulorhexis
#14
Saori Yaguchi, Shigeo Yaguchi, Yukari Yagi-Yaguchi, Tadahiko Kozawa, Hiroko Bissen-Miyajima
PURPOSE: To quantify zonular weakness based on lens movement at the start of continuous curvilinear capsulorhexis (CCC) and establish a classification system for it. SETTING: Kozawa Eye Hospital and Diabetes Center, Mito, Japan. DESIGN: Retrospective interventional case series. METHODS: We examined 402 consecutive eyes of 316 patients who underwent CCC, phacoemulsification and aspiration (PEA), and intraocular lens (IOL) implantation...
2017: PloS One
https://www.readbyqxmd.com/read/28425969/the-pharmacological-effects-of-lutein-and-zeaxanthin-on-visual-disorders-and-cognition-diseases
#15
REVIEW
Yu-Ping Jia, Lei Sun, He-Shui Yu, Li-Peng Liang, Wei Li, Hui Ding, Xin-Bo Song, Li-Juan Zhang
Lutein (L) and zeaxanthin (Z) are dietary carotenoids derived from dark green leafy vegetables, orange and yellow fruits that form the macular pigment of the human eyes. It was hypothesized that they protect against visual disorders and cognition diseases, such as age-related macular degeneration (AMD), age-related cataract (ARC), cognition diseases, ischemic/hypoxia induced retinopathy, light damage of the retina, retinitis pigmentosa, retinal detachment, uveitis and diabetic retinopathy. The mechanism by which they are involved in the prevention of eye diseases may be due their physical blue light filtration properties and local antioxidant activity...
April 20, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28424877/-fuchs-uveitis
#16
L Daas, B Seitz, U Pleyer
Fuchs uveitis (FU) is a frequent, chronic course of intraocular inflammation, which is associated with a gradual onset of decreased visual acuity. The clinical manifestation of the triad of heterochromia, cataract and glaucoma varies considerably. This explains the often delayed diagnosis. Although the aetiology and pathogenesis of the changes are still unclear, there is no doubt that infections play a significant role. Intraocular antibodies directed against rubella viruses show a high association with the disease pattern, and their detection can even be used to support the diagnosis...
April 19, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28424563/traumatic-reopening-of-macular-hole-following-successful-surgical-repair
#17
Margaret Wong, Robert L Halpern, James H Frank
A 75-year-old Caucasian female with a full-thickness macular hole underwent a successful surgical repair. Vision improved from 20/400 to 20/30 after surgery. Two years later, the patient presented with a decreased vision after a fall onto her face with a reopened full-thickness macular hole. Vision decreased to 20/400 and then she underwent a second surgery with an internal limiting membrane peeling, which resulted in a second successful closure of her macular hole. Vision following the second surgery was 20/100...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28422769/visual-outcomes-and-local-control-after-fractionated-stereotactic-radiotherapy-for-optic-nerve-sheath-meningioma
#18
Sarah Nicole Hamilton, Alan Nichol, Pauline Truong, Michael McKenzie, Fred Hsu, Arthur Cheung, Peter Dolman, Ermias Gete, Roy Ma
PURPOSE: To review the outcomes of patients with optic nerve sheath meningiomas (ONSM) treated with fractionated stereotactic radiotherapy. METHODS: Patient characteristics, treatment, and outcomes were analyzed for all patients with primary and secondary ONSM treated from 2001 to 2012. Clinically significant visual acuity change was defined as a 2-line change on the Snellen eye chart from pre-fractionated stereotactic radiotherapy. RESULTS: Forty-one patients were treated: 23 patients with primary ONSM and 18 patients with secondary ONSM...
April 18, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28422552/rapid-assessment-of-avoidable-blindness-and-diabetic-retinopathy-in-gilan-province-iran
#19
Marzieh Katibeh, Hassan Behboudi, Siamak Moradian, Yousef Alizadeh, Ramin Beiranvand, Hamideh Sabbaghi, Hamid Ahmadieh
PURPOSE: To conduct an assessment of avoidable blindness and diabetic retinopathy (DR) in Gilan, 2014. METHODS: A cross-sectional population-based survey was performed on a representative sample of urban and rural individuals aged ≥50 years of the province. Blindness was defined as presenting visual acuity (PVA) <3/60 in the better eye. Moderate visual impairment (MVI) and severe visual impairment (SVI) were defined as 6/60 ≤ PVA <6/18 and 3/60 ≤ PVA <6/60 in the better eye, respectively...
April 19, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28422087/clinical-comparison-of-patient-outcomes-following-implantation-of-trifocal-or-bifocal-intraocular-lenses-a-systematic-review-and-meta-analysis
#20
Zeren Shen, Yuchen Lin, Yanan Zhu, Xin Liu, Jie Yan, Ke Yao
To assess the visual effects of trifocal intraocular lenses (IOLs) compared to bifocal IOLs in cataract surgery, a meta-analysis of prospective comparative clinical trials (including 4 randomized controlled trials and 4 cohorts) was conducted. The defocus curves showed a better distance-corrected intermediate visual acuity (VA) for the trifocal group (MD -0.07; 95% CI, -0.10 to -0.05; p < 0.00001), while the VA outcomes showed no significant difference in distance VA (MD -0.03; 95% CI, -0.06 to 0.01; p = 0...
March 28, 2017: Scientific Reports
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