Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Correction: Impact of the COVID-19 pandemic on family carers of those with profound and multiple intellectual disabilities: perspectives from UK and Irish Non-Governmental Organisations. [PDF]
BMC Public Health, 2022 Linden MA +7 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
Conceptualising sustainability in the surgical work of non-governmental organisations in low and middle-income countries : a scoping review protocol. [PDF]
BMJ Open, 2021 Goettke E +3 more
europepmc +1 more source
The Role of Non-governmental Organisations (NGOs) in Japan’s Foreign Aid Policy [PDF]
The reinforcement of the Non-governmental organisations’ role in Japan’s ODA program is a challenging task. However, if this objective is achieved, at least three advantages could ensue. Firstly, Japanese NGOs would be able to independently carry out the
Furuoka, Fumitaka
core +1 more source
Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher +10 more
wiley +1 more source
Acceptability and usability of HIV self-tests in two European countries: findings from surveys of clients at non-governmental organisations in Lithuania and Italy. [PDF]
BMC Infect Dis, 2021 Nash SG +8 more
europepmc +1 more source
Challenging international development’s response to disability in rural India: A case for more ethnographic research [PDF]
, 2005 In this article I argue that an ethnographic approach has a contribution to make to the analysis of disability and development. Anthropologists document the experiences of disabled people whilst also critiquing the current operational structures and ...
Bradley, Tamsin
core +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Elusive quality: the challenges and ethical dilemmas faced by international non-governmental organisations in sourcing quality assured medical products. [PDF]
BMJ Glob Health, 2021 Enright K.
europepmc +1 more source