Results 41 to 50 of about 397,632 (265)

The impact of neurological disorders on hospital admissions for children and young people: a routine health data study

International Journal of Population Data Science, 2018
Introduction Neurological conditions are a major and increasing cause of hospitalisation among children and young people, but little is known about the impact of neurological conditions on hospital services in England, nor the factors that influence ...
Stuart William Jarvis, John Livingston, Anne-Marie Childs, Lorna Fraser   +3 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Molecular Cytogenetics, 2021
Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial ...
Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal, Bin Zhang   +5 more
doaj   +1 more source

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

Emerging Data from a Newborn Hearing Screening Program in Sharjah, United Arab Emirates

International Journal of Pediatrics, 2021
Objectives. Newborn hearing screening (NHS) plays a critical role in early identification of hearing loss and subsequent early habilitation. Active parental involvement influences the success of NHS, particularly the initial NHS and follow-up.
Muhammed Ayas, Hakam Yaseen
doaj   +1 more source

The NHS plan

BMJ, 2000
News p 317 This is probably as good as it gets: a significant injection of money for the NHS sustained over five years1 coupled with a comprehensive national plan for the NHS, announced last week.2 The plan is true to the NHS's founding principles and has been drawn up by all the NHS's major stakeholders—who have signed up to help make it a reality.2
J, Dixon, S, Dewar
openaire   +3 more sources

Pathways and pitfalls: a qualitative study of student experiences in biomedical science education

FEBS Open Bio, EarlyView.
Biomedical science students from underrepresented backgrounds face barriers including financial strain, disrupted laboratory access and cultural exclusion. Peer networks provide vital support when institutional systems are difficult to navigate. To create inclusive learning environments and achieve academic success, educators should blend active, hands‐
Olivia J. Russell, Cassy Ross, Panagiota S. Filippou, Bruno Silvester Lopes, Dominic Gilchrist, Paul Dean, Kamar Ameen‐Ali, Tora K. Smulders‐Srinivasan, Ahmad A. Khundakar   +8 more
wiley   +1 more source

Diversity amongst Decision Makers?: Workplace Inequality, Black Underrepresentation, and the Afterlife of Colonialism in NHS Governance

Medicine Anthropology Theory
Whereas senior management within NHS England was once so monocultural that it was dubbed the ‘snowy white peaks of the NHS’, recent data suggests that things have begun to change. However, Black staff in particular are still underrepresented.
Rebecca Irons
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Waste in the NHS [PDF]

British Journal of General Practice, 2009
In January I had the misfortune to sustain a supra-condylar fracture of my femur. Initial pain and subsequent immobility have given me rather too much time to reflect! This reflection was even more poignant as the accident coincided with the escalation of ‘co-lateral’ casualties in Gaza.
openaire   +2 more sources