38,745 results match your criteria iris

Ectropion Uveae in neurofibromatosis type 1: a new manifestation.

Ann Ig 2021 May;172(3):206-208

Dermatologic Clinic, "Sapienza" University of Rome, Rome, Italy.

Abstract: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3500 live birth. Penetrance is virtually 100%, but the expression is highly variable and almost every organ can be affected. Diagnosis of NF1 is made with at least two of the following diagnostic criteria: six or more cafè-au-lait spots, two neurofibromas or one plexiform neurofibroma, axillary or groin freckling, optic glioma, two Lisch nodules, bone dysplasia and first-degree relative with NF1. Read More

View Article and Full-Text PDF

Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.

Philip R Cohen

Cureus 2021 Apr 2;13(4):e14258. Epub 2021 Apr 2.

Dermatology, San Diego Family Dermatology, National City, USA.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genodermatosis that may also occur as the result of a spontaneous mutation. The diagnosis can be established by the presence of two of the seven National Institutes of Health (NIH) diagnostic criteria; several dermatologic manifestations are NIH criteria used to establish the diagnosis: axillary and inguinal freckling, café-au-lait macules, and neurofibromas. Mucosal evaluation of the eyes may detect a fourth criteria: pigmented iris hamartomas (Lisch nodules). Read More

View Article and Full-Text PDF

Protective effects of a standardized extract of on pancreas and liver in streptozotocin-induced diabetic rats.

Res Pharm Sci 2021 Feb 30;16(1):71-78. Epub 2020 Dec 30.

Pharmacological Research Center of Medicinal Plants, Mashhad University of Medical Sciences, Mashhad, I.R. Iran.

Background And Purpose: Previous studies have shown the antioxidant, anti-inflammatory, immunomodulatory, and hypolipidemic activities of . The aim of the present study was to evaluate the protective effects of hydroalcoholic extract of rhizomes on streptozotocin-induced diabetic rats.

Experimental Approach: Twenty-four male Wistar rats were randomly assigned into four groups including a normal control group, diabetic control group, diabetic groups treated for 4 weeks with 100 and 200 mg/kg/day of the extract (IGE). Read More

View Article and Full-Text PDF
February 2021

Recent Advances in Multimetal and Doped Transition-Metal Phosphides for the Hydrogen Evolution Reaction at Different pH values.

ACS Appl Mater Interfaces 2021 May 6. Epub 2021 May 6.

Institut für Chemie and IRIS Adlershof, Humboldt-Universität zu Berlin, Brook-Taylor-Strasse 2, 12489 Berlin, Germany.

Hydrogen is a fuel with a potentially zero-carbon footprint viewed as a viable alternative to fossil fuels. It can be produced in a large scale via electrochemical water splitting using electricity derived from renewable sources, but this would require highly active, inexpensive, and stable hydrogen evolution reaction (HER) catalysts to replace the Pt benchmark. Transition-metal phosphides (TMPs) are potential Pt replacements owing to their generally high activity as well as versatility as HER catalysts for different pH media. Read More

View Article and Full-Text PDF

Bag-in-the-lens intraocular lens in paediatric cataract surgery: intraoperative and postoperative outcomes.

Acta Ophthalmol 2021 May 5. Epub 2021 May 5.

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.

Purpose: To report intra- and postoperative surgical outcome using the bag-in-the-lens (BIL) technique in paediatric cataract surgery.

Methods: In a retrospective case series, we studied the outcomes of children aged <12 years operated for cataract with the bag-in-the-lens intraocular lens (IOL), with a minimum of 6 months of follow-up.

Results: Since 2013, 50 eyes in 30 patients <12 years (20 bilateral and 10 unilateral) have been operated at our department with the BIL technique, with a median follow-up time of 33. Read More

View Article and Full-Text PDF

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Am J Med Genet A 2021 May 5. Epub 2021 May 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability. GLSP is caused by either biallelic or heterozygous, dominant-negative, pathogenic variants in ITPR1. Here, we present a 5-year-old male with GLSP who was found to have a heterozygous, de novo intronic variant in ITPR1 (NM_001168272. Read More

View Article and Full-Text PDF

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the gene.

Ophthalmic Genet 2021 May 5:1-12. Epub 2021 May 5.

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to gene variants.: Twenty-six patients (21-81 years) with L-ORD due to c.562C>A p. Read More

View Article and Full-Text PDF

Unilateral Ocular Siderosis Bulbi Due to Missed Metallic Intraocular Foreign Body Masquerading as Anisocoria of Neurological Origin: A Case Report.

Am J Case Rep 2021 May 5;22:e930504. Epub 2021 May 5.

Department of Special Surgery, Division of Ophthalmology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

BACKGROUND Ocular siderosis is an uncommon cause of vision loss due to a retained ferrous intraocular foreign bodies (IOFB) that cause iron deposition in ocular tissues. The most common manifestations are cataract formation, diffuse pigmentary changes of the retinal pigment epithelium, iris heterochromia, dilated pupils, secondary glaucoma, iritis, and cystoid macular edema. CASE REPORT We report a case of 38-year-old man who presented with a left dilated pupil and visual field defect. Read More

View Article and Full-Text PDF

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.

J Clin Lab Anal 2021 May 4:e23792. Epub 2021 May 4.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Background: Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics. Read More

View Article and Full-Text PDF

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience.

Eye (Lond) 2021 May 3. Epub 2021 May 3.

Departmant of Pathology, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: To investigate the results of partial lamellar sclerouvectomy (PLSU) for anteriorly located uveal tumours.

Methods: We reviewed the tumour features, histopathologic findings, complications, visual acuity outcomes, eye preservation, metastasis, and mortality data of 56 cases with uveal tumours who underwent PLSU between February 1999 and February 2019.

Results: The mean largest tumour base diameters were 5. Read More

View Article and Full-Text PDF

Consensus paper on postural dysfunction: recommendations for prevention, diagnosis and therapy.

J Biol Regul Homeost Agents 2021 May 4;35(2). Epub 2021 May 4.

Romanian Association of Posturology, Romania.

Good fundamentals of posture and balance are essential for the efficient performance of both simple daily tasks and more complex movement patterns. In particular, postural balance is the ability to keep the body in equilibrium and to regain balance after the shift of body segments: postural control mechanisms of integration of the visual, vestibular and foot afferential channels contribute to this. This document provides recommendations based on scientific evidence, clinical practice, and consensus between experts concerning the prevention, diagnosis, and treatment of postural dysfunction at the three stages of life as the developmental age, adult age, and old age > 65 years and follows the "National Guidelines on Classification and Measuring of Posture and its Dysfunctions" per the Italian Ministry of Health (December 2017). Read More

View Article and Full-Text PDF

Organic contamination detection for isotopic analysis of water by laser spectroscopy.

Rapid Commun Mass Spectrom 2021 May 3:e9118. Epub 2021 May 3.

Global Institute for Water Security, School of Environment and Sustainability, University of Saskatchewan, 11 Innovation Boulevard, Saskatoon, SK, S7N 3H5, Canada.

Rationale: Hydrogen and oxygen stable isotope ratios (δ H, δ O, and δ O values) are commonly used tracers of water. These ratios can be measured by isotope ratio infrared spectroscopy (IRIS). However, IRIS approaches are prone to errors induced by organic compounds present in plant, soil, and natural water samples. Read More

View Article and Full-Text PDF

Mechanism and Timescales of Reversible p-Doping of Methylammonium Lead Triiodide by Oxygen.

Adv Mater 2021 May 3:e2100211. Epub 2021 May 3.

Institut für Physik & IRIS Adlershof, Humboldt-Universität zu Berlin, 12489, Berlin, Germany.

Understanding and controlling the energy level alignment at interfaces with metal halide perovskites (MHPs) is essential for realizing the full potential of these materials for use in optoelectronic devices. To date, however, the basic electronic properties of MHPs are still under debate. Particularly, reported Fermi level positions in the energy gap vary from indicating strong n- to strong p-type character for nominally identical materials, raising serious questions about intrinsic and extrinsic defects as dopants. Read More

View Article and Full-Text PDF

Integrase inhibitors versus efavirenz combination antiretroviral therapies for TB/HIV coinfection: a meta-analysis of randomized controlled trials.

AIDS Res Ther 2021 May 1;18(1):25. Epub 2021 May 1.

Department of Evidence-Based Medicine and Clinical Center, The First People's Hospital of Huaihua, University of South China, Huaihua, 418000, People's Republic of China.

Background: Integrase inhibitors (INIs)-based antiretroviral therapies (ART) are more recommended than efavirenz (EFV)-based ART for people living with HIV/AIDS (PLWHA). Yet, the advantage of integrase inhibitors in treating TB/HIV coinfection is uncertain. Therefore, the objective of this systematic review is to evaluate the effects and safety of INIs- versus EFV-based ART in TB/HIV coinfection, and demonstrate the feasibility of the regimens. Read More

View Article and Full-Text PDF

Tough Multimaterial Interfaces through Wavelength-Selective 3D Printing.

ACS Appl Mater Interfaces 2021 Apr 30. Epub 2021 Apr 30.

Materials Department, University of California, Santa Barbara, Santa Barbara, California 93106, United States.

Strong and well-engineered interfaces between dissimilar materials are a hallmark of natural systems but have proven difficult to emulate in synthetic materials, where interfaces often act as points of failure. In this work, curing reactions that are triggered by exposure to different wavelengths of visible light are used to produce multimaterial objects with tough, well-defined interfaces between chemically distinct domains. Longer-wavelength (green) light selectively initiates acrylate-based radical polymerization, while shorter-wavelength (blue) light results in the simultaneous formation of epoxy and acrylate networks through orthogonal cationic and radical processes. Read More

View Article and Full-Text PDF

Reply: Congenital Iris Coloboma Repair with Excision of Colobomatous Sphincter Muscle.

J Cataract Refract Surg 2021 Apr 12. Epub 2021 Apr 12.

Eye Associates of New Mexico, and University of New Mexico School of Medicine, Albuquerque, New Mexico.

View Article and Full-Text PDF

Comment on: Congenital Iris Coloboma Repair with Excision of Colobomatous Sphincter Muscle.

J Cataract Refract Surg 2021 Apr 12. Epub 2021 Apr 12.

Shri Jagdamba Charitable Eye Hospital, Department of Ophthalmology, Andh Vidyalaya Campus, Sri Ganganagar, Rajasthan, India.

View Article and Full-Text PDF

Thrombocytopenia and Clear Corneal Incision Cataract Surgery.

J Cataract Refract Surg 2021 Apr 22. Epub 2021 Apr 22.

1 Drexel University College of Medicine, Philadelphia, Pennsylvania, USA 2 Department of Ophthalmology, Minneapolis Veterans Affairs Health Care System, Minneapolis, Minnesota, USA 3 Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA 4 Department of Ophthalmology and Visual Sciences, University of Wisconsin - Madison, Madison, Wisconsin, USA 5 Ocular Immunology Division, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Purpose-: To investigate complications and outcomes of clear corneal incision cataract surgery in patients with thrombocytopenia.

Setting-: One veterans hospital and two academic medical centers DESIGN-: Multi-center retrospective chart review.

Methods-: All eyes of thrombocytopenic patients that underwent clear corneal incision cataract surgery with a platelet count ≤100 x 10/µl measured ≤30 days prior to surgery were included. Read More

View Article and Full-Text PDF

Circumferential Assessment of Changes in Anterior Segment Characteristics and Baseline Predictors of Angle Widening after Laser Iridotomy in Caucasian Eyes.

J Glaucoma 2021 Apr 28. Epub 2021 Apr 28.

Singapore Eye Research Institute and Singapore National Eye Centre, Singapore Duke-NUS Medical School, Singapore Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore Department of Diagnostics and Microsurgery of Glaucoma, Medical University of Lublin, Poland.

Prcis: Laser peripheral iridotomy widened the iridocorneal angle and flattened the iris circumferentially in Caucasian eyes and baseline refractive error, lens vault and iris volume play a significant role in the angle widening.

Purpose: To investigate circumferential angle widening and iris changes after laser peripheral iridotomy (LPI) using swept-source optical coherence tomography (SS-OCT) in Caucasian eyes with the use of novel anterior segment parameters.

Methods: 130 eyes (68 PACS, 34 PAC and 28 PACG eyes) of sixty-six subjects underwent 360-degrees SS-OCT (SS-1000 CASIA, Tomey Corporation, Nagoya, Japan) angle imaging and gonioscopy in the dark before and 7, 30, 90 days after LPI. Read More

View Article and Full-Text PDF

Influence of Extraction Solvent on Nontargeted Metabolomics Analysis of Enrichment Reactor Cultures Performing Enhanced Biological Phosphorus Removal (EBPR).

Metabolites 2021 Apr 26;11(5). Epub 2021 Apr 26.

Singapore Centre for Environmental Life Sciences Engineering, National University of Singapore, Singapore 117456, Singapore.

Metabolome profiling is becoming more commonly used in the study of complex microbial communities and microbiomes; however, to date, little information is available concerning appropriate extraction procedures. We studied the influence of different extraction solvent mixtures on untargeted metabolomics analysis of two continuous culture enrichment communities performing enhanced biological phosphate removal (EBPR), with each enrichment targeting distinct populations of polyphosphate-accumulating organisms (PAOs). We employed one non-polar solvent and up to four polar solvents for extracting metabolites from biomass. Read More

View Article and Full-Text PDF

Congenital Microcoria: Clinical Features and Molecular Genetics.

Genes (Basel) 2021 Apr 22;12(5). Epub 2021 Apr 22.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle-where the aqueous humor is drained-which play a central role in IOP regulation. Read More

View Article and Full-Text PDF

Anti-VEGF Drugs Influence Epigenetic Regulation and AMD-Specific Molecular Markers in ARPE-19 Cells.

Cells 2021 Apr 12;10(4). Epub 2021 Apr 12.

Gavin Herbert Eye Institute, University of California Irvine, Irvine, CA 92697, USA.

Our study assesses the effects of anti-VEGF (Vascular Endothelial Growth Factor) drugs and Trichostatin A (TSA), an inhibitor of histone deacetylase (HDAC) activity, on cultured ARPE-19 (Adult Retinal Pigment Epithelial-19) cells that are immortalized human retinal pigment epithelial cells. ARPE-19 cells were treated with the following anti-VEGF drugs: aflibercept, ranibizumab, or bevacizumab at 1× and 2× concentrations of the clinical intravitreal dose (12.5 μL/mL and 25 μL/mL, respectively) and analyzed for transcription profiles of genes associated with the pathogenesis age-related macular degeneration (AMD). Read More

View Article and Full-Text PDF

Screening and Identification of Host Proteins Interacting with var. Metallothionein IlMT2a by Yeast Two-Hybrid Assay.

Genes (Basel) 2021 Apr 10;12(4). Epub 2021 Apr 10.

Institute of Botany, Jiangsu Province and Chinese Academy of Sciences, Nanjing 210014, Jiangsu, China.

var. (Fisch.) ( var. Read More

View Article and Full-Text PDF

Multiplexed Affinity Measurements of Extracellular Vesicles Binding Kinetics.

Sensors (Basel) 2021 Apr 9;21(8). Epub 2021 Apr 9.

Department of Electrical Engineering, Boston University, Boston, MA 02215, USA.

Extracellular vesicles (EVs) have attracted significant attention as impactful diagnostic biomarkers, since their properties are closely related to specific clinical conditions. However, designing experiments that involve EVs phenotyping is usually highly challenging and time-consuming, due to laborious optimization steps that require very long or even overnight incubation durations. In this work, we demonstrate label-free, real-time detection, and phenotyping of extracellular vesicles binding to a multiplexed surface. Read More

View Article and Full-Text PDF

Superoxide Dismutase 1 Nanoparticles (Nano-SOD1) as a Potential Drug for the Treatment of Inflammatory Eye Diseases.

Biomedicines 2021 Apr 7;9(4). Epub 2021 Apr 7.

School of Chemistry, Lomonosov Moscow State University, 119991 Moscow, Russia.

Inflammatory eye diseases remain the most common clinical problem in ophthalmology. The secondary processes associated with inflammation, such as overproduction of reactive oxygen species (ROS) and exhaustion of the endogenous antioxidant system, frequently lead to tissue degeneration, vision blurring, and even blindness. Antioxidant enzymes, such as copper-zinc superoxide dismutase (SOD1), could serve as potent scavengers of ROS. Read More

View Article and Full-Text PDF

Chirality Remote Control in Nanoporous Materials by Circularly Polarized Light.

J Am Chem Soc 2021 Apr 29. Epub 2021 Apr 29.

Institute of Functional Interfaces (IFG), Karlsruhe Institute of Technology (KIT), Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen, Germany.

The ability to dynamically control chirality remains a grand challenge in chemistry. Although many molecules possess chiral isomers, lacking their isolation, for instance during photoisomerization, results in racemic mixtures with suppressed enantiospecific chiral properties. Here, we present a nanoporous solid in which chirality and enantioselective enrichment is induced by circularly polarized light (CPL). Read More

View Article and Full-Text PDF

Iris cerclage pupilloplasty and IOL implantation for traumatic mydriasis and aphakia after the blunt trauma of the eye.

Indian J Ophthalmol 2021 May;69(5):1314-1317

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; Clinic for Eye Diseases, Clinical Centre of Serbia, Belgrade, Serbia.

Four patients with traumatic mydriasis and aphakia following blunt injury of the eye globe were evaluated. Patients with severe glare and photophobia due to wide pupil diameter from 6.0 to 9. Read More

View Article and Full-Text PDF

A novel approach to anterior segment imaging with smartphones in the COVID-19 era.

Indian J Ophthalmol 2021 May;69(5):1257-1262

Research & Development, Remidio Innovative Solutions Pvt. Ltd., Bengaluru, Karnataka, India.

Purpose: To report a novel, telemedicine-friendly, smartphone-based, wireless anterior segment device with instant photo-documentation ability in the COVID-19 era.

Methods: Anterior Imaging Module (AIM) was constructed based on a 50/50 beam splitter design, to match the magnification drum optics of slit-lamps with a three-step or higher level of magnification. The design fills the smartphone sensor fully at the lowest magnification and matches the fixed focus of the slit-lamp. Read More

View Article and Full-Text PDF

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.

Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Division of Endocrinology and MetabolismDepartment of Internal Medicine, School of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.

Summary: The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH)-producing neurons during embryonic development, remain largely unknown. SOX10, a key transcription factor involved in the development of neural crest cells and established as one of the causative genes of Waardenburg syndrome, has been shown to be a causative gene of Kallmann syndrome. A 17-year-old male patient, who was diagnosed with Waardenburg syndrome on the basis of a hearing impairment and hypopigmented iris at childhood, was referred to our department because of anosmia and delayed puberty. Read More

View Article and Full-Text PDF

Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Front Immunol 2021 12;12:640473. Epub 2021 Apr 12.

Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Uveitis is a generic term for inflammation of the uvea, which includes the iris, ciliary body, and choroid. Prevalence of underlying non-infectious uveitis varies by race and region and is a major cause of legal blindness in developed countries. Although the etiology remains unclear, the involvement of both genetic and environmental factors is considered important for the onset of many forms of non-infectious uveitis. Read More

View Article and Full-Text PDF