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About 1,003 results

ALLMedicine™ Albinism Center

Research & Reviews  388 results

Evaluation of the acceptance and efficacy of a bespoke sun protection package for perso...
https://doi.org/10.1111/ijd.15793
International Journal of Dermatology; Gilaberte Y, Mzumara TE et. al.

Sep 8th, 2021 - Skin cancer is the main cause of death in persons with albinism (PWA) in Africa. Education would minimize sun damage. To evaluate the efficacy and acceptance of a photoprotection educative and sunscreen (Umozi Max) package designed for PWA in redu...

Sleep Challenges and Interventions in Children With Visual Impairment.
https://doi.org/10.3928/01913913-20210623-01
Journal of Pediatric Ophthalmology and Strabismus; Ingram DG, Cruz JM et. al.

Aug 27th, 2021 - To examine sleep patterns in a large and heterogeneous group of children with visual impairment. A cross-sectional survey of parents of children with visual impairment was offered via the National Federation of the Blind and the National Organizat...

GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular...
https://doi.org/10.1080/13816810.2021.1958352
Ophthalmic Genetics; Zhong J, You B et. al.

Aug 5th, 2021 - Ocular albinism type I (OA1) is caused by mutations in the GPR143 gene. The purpose of this study was to describe the clinical and genetic findings in 13 patients from 12 unrelated Chinese pedigrees with a pathogenic variant of the GPR143 gene. Mo...

Neurodevelopmental Profile in Children Affected by Ocular Albinism.
https://doi.org/10.1055/s-0041-1732430
Neuropediatrics Galli J, Loi E et. al.

Jul 31st, 2021 - The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. The design of the study involves a retrospective longitudinal observational case series. W...

Clinical phenocopies of albinism.
https://doi.org/10.1016/j.jaapos.2021.03.015
Journal of AAPOS : the Official Publication of the Americ... Dumitrescu AV, Pfeifer WL et. al.

Jul 20th, 2021 - To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis. The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of ...

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News  11 results

Albinism awareness goes global in dermatologists’ nonprofit work
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists?channel=27980
Kari Oakes

Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

Driving With Low Vision
https://www.medscape.com/viewarticle/819137_5

Jan 21st, 2014 - The Process and Privilege of Driving Great importance is placed on driving in modern society. To be denied the right to drive deprives individuals of their vocations and avocations and their freedom of mobility, as well as placing severe limits on...

New Immune Disease Cripples White Cells
https://www.medpagetoday.com/genetics/generalgenetics/39756

Jun 11th, 2013 - Action Points A newly-described immunodeficiency syndrome of neutrophil defects, bone marrow fibrosis, nephromegaly, and life-threatening infections arises from a genetic mutation that impairs movement of proteins within cells. Note that although ...

Hereditary Nonmelanoma Skin Cancer
https://www.mdedge.com/dermatology/article/57562/melanoma/hereditary-nonmelanoma-skin-cancer

Dec 1st, 2012 - Vasiliki Nikolaou, MD, Alexander J. Stratigos, MD, and Hensin Tsao, MD, PhD Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million t.

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Patient Education  2 results see all →