Results 171 to 180 of about 56,505 (288)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

open access: yesBrain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren   +5 more
wiley   +1 more source

Cancer pain: current practice and emerging targets

open access: yesBritish Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye   +5 more
wiley   +1 more source

Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X‐Linked Retinoschisis: The AXIS Trial

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background This trial aimed to evaluate the efficacy of oral acetazolamide in reducing cystoid fluid collections (CFC) and improving visual function in patients with X‐linked retinoschisis (XLRS). Methods In this investigator‐initiated, single centre, open‐label, randomised controlled trial, XLRS patients aged ≥ 12 years with fovea‐involving ...
Jonathan Hensman   +15 more
wiley   +1 more source

Approach to facial pain. [PDF]

open access: yesSingapore Med J
Ong DSM   +4 more
europepmc   +1 more source

Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and management

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map existing evidence on neuropathic pain in cerebral palsy (CP) and related genetic conditions, including prevalence, descriptors, assessment methods, and management. Method Following prospective registration, five databases (Ovid MEDLINE, Embase, CINAHL, Web of Science, Google Scholar) were searched in June 2025.
Aayushi Khillan   +8 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba   +15 more
wiley   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed   +7 more
wiley   +1 more source

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