Results 41 to 50 of about 14,286 (195)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Malawian mothers’ experiences of raising children living with albinism: A qualitative descriptive study

African Journal of Disability, 2021
Background: Albinism in humans is characterised by a reduced amount of pigment (melanin) present in the skin, hair follicles and the eye; approximately 7000–10 000 Malawians of all ages are affected.
Naomi Likumbo, Tania de Villiers, Una Kyriacos   +2 more
doaj   +1 more source

Early Visual Development in Albinism

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Visual system development is incomplete at birth, and while fixation and tracking usually emerge within the first weeks of life, some infants show delayed visual development (DVDev). This is frequently observed in infants with albinism, yet the timing of visual attentiveness and subsequent visual acuity development remains unclear ...
Catelijne Maria Neijzen, Ymkje Marije Hettinga, Herman Eduard Talsma, Charlotte Corinne Kruijt, Joke Helena de Boer, Gerard Cornelis de Wit, Maria Michielde van Genderen   +6 more
wiley   +1 more source

Small birches matter: Beetle diversity on burned birch and pine in boreal forests

Insect Conservation and Diversity, EarlyView.
Burned birch hosted higher beetle richness than burned pine. Higher beetle richness on birch was associated with its greater post‐fire mortality, with charred, dead birches attracting more specialized beetles. Retaining burned birch alongside pine can enhance saproxylic and pyrophilous beetle diversity after prescribed burning.
Katja Frostgård, Emelie Fredriksson, Anne‐Maarit Hekkala   +2 more
wiley   +1 more source

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific Reports, 2017
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes.
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self   +17 more
doaj   +1 more source

A participatory systematic review on human rights and the birth of a child with albinism in sub-Saharan Africa

Women's Health
Background: The period surrounding birth is a crucial and determining time for many women, particularly for those who give birth to a child with albinism (CWA) due to the stigma, discrimination, and threat to safety they immediately encounter, altering ...
Sheryl Reimer-Kirkham, Kendra Rieger, Barbara Astle, Meghann Buyco, Kwame Andrews Daklo, Duncan Dixon, Ikponwosa Ero, Bonny Ibhawoh, Ingrid Tshegofatso Keitseomore, Jennifer Kromberg, Michael Lang, Ronell Leech, Nomasonto Mazibuko, Tumisho Mokwele, Tintswalo Victoria Nesengani, Lillian Ohene, Perpetua Senkoro, Eunice Siaity-Pallangyo, Landa Terblanche, Wisdom Tettey, Mpho Tjope, Lorraine Tshuma, Ingrid Watts, Jessica Wilson, Ramadimetja Shirley Mooa   +24 more
doaj   +1 more source

Multilingual Digital Search Behavior Reveals Cultural Disparities in Vitiligo Information Needs in Germany

International Journal of Dermatology, EarlyView.
Multilingual vitiligo‐related Google search queries in Germany (October 2019–May 2023) were extracted and thematically coded across German, English, Turkish, Arabic, Russian, and Polish. Relative patterns highlighted language‐specific emphases in treatment information, camouflage, depigmentation, psychosocial burden, and faith/home‐remedy terms ...
Lilian Rauch, Christine Gasteiger, Markus Böhm, Georg Pliszewski, Tilo Biedermann, Alexander Zink   +5 more
wiley   +1 more source

Double‐blind, sham‐controlled, trial of rhythmic 10 Hz median nerve stimulation for the reduction of tics in Tourette syndrome: Analyses of 3‐month follow‐up data for those receiving active stimulation

Journal of Neuropsychology, EarlyView.
Abstract Tourette syndrome [TS] is a neurological disorder of childhood onset characterised by the occurrence of tics: repetitive, purposeless movements or vocalisations. Effective treatment for tic disorders is an area of considerable unmet clinical need.
Stephen R. Jackson, Barbara Morera Maiquez, Georgina M. Jackson   +2 more
wiley   +1 more source

Albinism in Natrix tessellata (Serpentes: Natricidae)

Phyllomedusa: Journal of Herpetology, 2020
Albinism in Natrix tessellata (Serpentes: Natricidae). The Dice Snake, Natrix tessellata, varies in color and pattern, and has several color morphs. Except for melanism, color aberrations are quite rare in the species.
Simona Papezikova, Milan Oselsky, Petr Papezik, Daniel Jablonski   +3 more
doaj  

The 150‐Year‐Old Hybrid Organization: A Historical View on Municipally Owned Corporations (MOC) in Sweden

Public Administration, EarlyView.
ABSTRACT This article presents a 150‐year longitudinal analysis of the development of municipally owned corporations (MOCs) in Sweden, tracing their emergence in the mid‐nineteenth century, their expansion during the growth of the welfare state, and their transformation in the era of market‐oriented public sector reform.
Anna Thomasson, Olof Hallonsten
wiley   +1 more source