Results 41 to 50 of about 6,779,968 (351)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Getting It Out There: Reflections on the Process and Impact of Public Engagement Activities in a Study on End‐of‐Life Care Planning With People With Intellectual Disabilities

Health Expectations
Introduction Many tools and interventions developed from research projects are not properly implemented in health and social care practice. Engaging with stakeholders is an important part of the implementation process when developing, sharing and ...
Andrea Bruun, Amanda Cresswell, David Jeffrey, Leon Jordan, Richard Keagan‐Bull, Jo Giles, Sarah Swindells, Meg Wilding, Nicola Payne, Gemma Allen, Rhidian Hughes, Elizabeth Tilley, Sarah L. Gibson, Rebecca Anderson‐Kittow, Irene Tuffrey‐Wijne   +14 more
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Cognitive Shifting Ability Does Not Predict Self-Perceived Hearing Difficulties in Adult Hearing-Aid Users

Trends in Hearing
Age-related hearing loss (ARHL) often leads to hearing difficulties, impacting communication and daily functioning even among hearing-aid users. While hearing loss and cognitive functions, such as cognitive shifting ability, have been proposed as ...
Francesca Molinari Luccini, Henrik Danielsson, Victoria Stenbäck, Elaine Hoi Ning Ng, Emil Holmer   +4 more
doaj   +1 more source

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

International Journal of Neonatal Screening, 2018
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia.
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field   +8 more
doaj   +1 more source

A Conceptual Model for Inclusive Technology: Advancing Disability Inclusion through Artificial Intelligence

Journal of Disability Research
Artificial intelligence (AI) has ushered in transformative changes, championing inclusion and accessibility for individuals with disabilities. This article delves into the remarkable AI-driven solutions that have revolutionized their lives across various
M. Almufareh, Sumaira Kausar, M. Humayun, Samabia Tehsin   +3 more
semanticscholar   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

fMRI Evidence of Magnitude Manipulation during Numerical Order Processing in Congenitally Deaf Signers

Neural Plasticity, 2018
Congenital deafness is often compensated by early sign language use leading to typical language development with corresponding neural underpinnings.
Josefine Andin, Peter Fransson, Jerker Rönnberg, Mary Rudner   +3 more
doaj   +1 more source

A Glimpse of Memory Through the Eyes: Pupillary Responses Measured During Encoding Reflect the Likelihood of Subsequent Memory Recall in an Auditory Free Recall Test

Trends in Hearing, 2022
The aim of the current study was to investigate whether task-evoked pupillary responses measured during encoding, individual working memory capacity and noise reduction in hearing aids were associated with the likelihood of subsequently recalling an item
Andreea Micula, Jerker Rönnberg, Patrycja Książek, Reena Murmu Nielsen, Dorothea Wendt, Lorenz Fiedler, Elaine Hoi Ning Ng   +6 more
doaj   +1 more source

Patients with learning disabilities [PDF]

British Journal of General Practice, 2009
With reference to the letters following and original article by Mike Fitzpatrick,1 I find it hard to believe that our own patients' experience could be so very different to those in the study GPs' populations. I would agree that there may well be access difficulties to many of these patients, as there are to those with mobility problems, or indeed ...
openaire   +2 more sources