SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Multimodal Model for Automated Pain Assessment: Leveraging Video and fNIRS
Pain assessment is a challenging task for clinicians due to its subjective nature, particularly in individuals with communication difficulties, cognitive impairments, or severe disabilities.
Jo Vianto +6 more
doaj +1 more source
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Application of artificial intelligence in pain assessment
Artificial intelligence (AI) has been widely applied in the field of clinical medicine, including disease prediction and prevention, health management and monitoring, auxiliary diagnosis and treatment, medical imaging, drug development, etc. This article
LIU Di, WANG Wenjun
doaj +1 more source
Intrarater Agreement of Elbow Extension Range of Motion in the Upper Limb Neurodynamic Test 1 Using a Smartphone Application [PDF]
To estimate the intrarater agreement of the Compass application of a smartphone in the assessment of elbow extension range of motion (EE-ROM) at pain onset and maximum tolerable point during the Upper Limb Neurodynamic Test 1 (ULNT1).info:eu-repo ...
Cruz, Joana, Morais, Nuno
core +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Applying the Cry of Pain model as a predictor of deliberate self-harm in an early-stage adult male prison population [PDF]
Purpose: Deliberate self-harming behaviour is more prevalent within the prison environment than in community samples, with those in the first weeks of imprisonment at greatest risk. Research in this area has been largely atheoretical and a unifying model
Aderka +65 more
core +2 more sources
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
The myth of patient centrality [PDF]
Purpose: The purpose of this paper is to critically examine the extent of patient centrality within integrated chronic back pain management services and compare policy rhetoric with practice reality.
Haigh, C, Howarth, ML
core
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source

