Results 71 to 80 of about 21,367 (237)

Exploring the experiences of persons living with albinism in Ghana

Cogent Education
Albinism is typically misunderstood, resulting in myths and misconceptions about the condition in different parts of the world. This study explores the misconceptions about albinism in Ghana through the lens of lived experiences of persons living with ...
Andrew Kwame Daklo, Olusegun Samson Obadire   +1 more
doaj   +1 more source

Skin flora: Differences Between People Affected by Albinism and Those with Normally Pigmented Skin in Northern Tanzania - Cross Sectional Study. [PDF]

, 2012
Skin flora varies from one site of the body to another. Individual's health, age and gender determine the type and the density of skin flora. A 1  cm² of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated ...
Baraka M Chaula, Bernard Naafs, EA Grice, EL Larson, EL Larson, EL Larson, HH Kong, J Faergemann, JJ Leyden, John E Masenga, KK Hanneman, LF Borges, N Fierer, RR Marples, Samson K Kiprono, V Thamlikitkul, WC Noble   +16 more
core   +2 more sources

Moment‐curvature behavior of continuous reinforced concrete slab strips—Experimental determination and modeling

Structural Concrete, EarlyView.
Abstract With the market introduction of new reinforcing materials, such as corrosion‐resistant steel, the effect of their stress–strain relationship on the ductility of reinforced concrete structures needs to be evaluated. Their moment‐curvature behavior significantly influences bending moment redistributions, rotation capacity, and deformation at ...
Nathalie Reckinger, Karel Thoma, Walter Kaufmann   +2 more
wiley   +1 more source

First report of albinism in the South American catfish Imparfinis mirini (Siluriformes: Heptapteridae)

Revista Mexicana de Biodiversidad, 2017
Albinism is a genetic condition caused by an autosomal recessive gene that affects normal pigmentation in animals. In Neotropical freshwater fish fauna, albinism cases are extremely rare, with only 14 species recorded among more than 6,000 described ...
Pedro S. Manoel, Erika R. Ono, Maria Ines B. Alves   +2 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

BMC Medicine
Background To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition.
Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, Mathieu Perie, Antoine Gliksohn, Béatrice Jouanne, Smail Hadj-Rabia, Benoit Arveiler, Fanny Morice-Picard, Bruno Quintard   +9 more
doaj   +1 more source

Characterization of Retinal Thickness in Individuals with Albinism: Baseline Data for a Black South African Population

Clinical Optometry, 2021
Ethan Pillay, Thiroshnee Naidoo, Khadija Asmal, Lilitha Maliwa, Sinenhlanhla Mchunua, Diane Beverly van Staden, Nishanee Rampersad Discipline of Optometry, School of Health Sciences, University of KwaZulu-Natal, Durban X54001, South AfricaCorrespondence:
Pillay E, Naidoo T, Asmal K, Maliwa L, Mchunua S, van Staden DB, Rampersad N   +6 more
doaj  

Clinical and genetic aspects of albinism [PDF]

Клиническая офтальмология, 2021
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko   +4 more
doaj  

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source