Results 31 to 40 of about 13,993 (190)

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

Journal of Medical Case Reports, 2008
Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism.
Bakare Muideen O, Ikegwuonu Nkeiruka N
doaj   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

String Figuring young children's perspectives of quality in English early childhood education and care

British Educational Research Journal, EarlyView.
Abstract Quality in early childhood education and care (ECEC) is a contested concept and has generally been conceptualised by inter‐related indicators such as staff qualifications, educational environment, policy or child‐to‐staff ratios. There has been a more limited emphasis on how young children might perceive and experience quality.
Nikki Fairchild, Éva Mikuska
wiley   +1 more source

Reception Baseline Assessment and ‘small acts’ of micro‐resistance

British Educational Research Journal, EarlyView.
Abstract In September 2021, following the global COVID‐19 pandemic, the Department for Education introduced a national standardised digital Reception Baseline Assessment (RBA) for all English 4‐year‐old children. We analyse RBA and its associated Quality Monitoring Visits, as a further intensification of the new public management of early years ...
Guy Roberts‐Holmes, Diana Sousa, Siew Fung Lee   +2 more
wiley   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

The Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study

JMIR Dermatology, 2023
BackgroundOculocutaneous albinism is a congenital disorder that causes hypopigmentation of the skin, hair, and eyes due to a lack of melanin.
Chetanna Chioma Anaje, Chibuzo Ifeanyi Okpala, Nkechi Anne Enechukwu, Ogochukwu Ifeanyi Ezejiofor, Divinefavour Echezona Malachy, Obumneme Kenechukwu Nwiyi   +5 more
doaj   +1 more source

Asynchronous population trends stabilize mesopredatory coral reef fish communities in the face of global change

Oikos, EarlyView.
Biodiversity can underpin stability in communities, allowing them to withstand environmental fluctuations without changes in aggregate properties like total abundance or biomass. We investigated the influence of biodiversity on two crucial population‐level mechanisms governing abundance stability in mesopredatory coral reef fishes: 1) ‘community ...
Rucha Karkarey, Eva Maire, Nicholas A. J. Graham, Valeriano Parravicini, Simon. J. Brandl, Jeremy Carlot, Mehdi Adjeroud, Rohan Arthur, Teresa Alcoverro, Shaun. K. Wilson, Jordan Goetze, Thomas H. Holmes, Julien Wickel, Dan. A. Exton, Sally A. Keith   +14 more
wiley   +1 more source

Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model. [PDF]

PLoS ONE, 2018
Albinism includes a group of inherited conditions that result in reduced melanin production. It has been documented across the world, with a high frequency in sub-Saharan Africa.
Caroline Bradbury-Jones, Peter Ogik, Jane Betts, Julie Taylor, Patricia Lund   +4 more
doaj   +1 more source

Life‐history traits and phylogeny structure taxon‐specific species–substrate relationships in deadwood

Oikos, EarlyView.
To understand the structuring of species assemblages, integrating life‐history traits and evolutionary heritage in analyses is vital. This allows the assessment of a mechanistic link between species and their environment. Deadwood systems are vital for nutrient cycling and biodiversity support, governed by complex intra‐ and inter‐specific fungal and ...
Albin Larsson Ekström, Heloise Gibb, Mari Jönsson, Line Boberg Djupström, Therese Löfroth   +4 more
wiley   +1 more source

Rotation capacity of continuous reinforced concrete slab strips revisited

Structural Concrete, EarlyView.
Abstract Rotation capacity is a key characteristic of statically indeterminate reinforced concrete structures, as it (i) enables bending moment redistributions, whether intentionally introduced through optimized reinforcement layouts or arising from unforeseen self‐equilibrated stress states, and (ii) promotes large rotations at failure load, thereby ...
Nathalie Reckinger, Karel Thoma, Walter Kaufmann   +2 more
wiley   +1 more source