C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.

Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length.

Optical coherence tomography in secondary progressive multiple sclerosis: cross-sectional and longitudinal exploratory analysis from the MS-SMART randomised controlled trial.

Background: Optical coherence tomography (OCT) inner retinal metrics reflect neurodegeneration in multiple sclerosis (MS). We explored OCT measures as biomarkers of disease severity in secondary progressive MS (SPMS).

Methods: We investigated people with SPMS from the Multiple Sclerosis-Secondary Progressive Multi-Arm Randomisation Trial OCT substudy, analysing brain MRIs, clinical assessments and OCT at baseline and 96 weeks.

Appraisal of current surgical guidelines for inflammatory bowel disease using the AGREE-S instrument: A scoping review.

Aim: Guidelines play a crucial role in improving patient care by providing clinicians with up to date evidence-based recommendations. A vast number of guidelines exist on the surgical management of inflammatory bowel disease (IBD). The aim of this scoping review was to identify current surgical IBD guidelines, assess their quality and identify areas of variation between the existing guidelines.

Extraneural Soft Tissue Perineurioma: A Report of a Rare Case of Peripheral Nerve Sheath Tumor.

Extraneural perineuriomas are rare, benign soft tissue tumors arising from perineurial cells, which form the protective lining of peripheral nerves. These tumors are infrequently encountered in the foot, posing diagnostic challenges due to their rarity and non-specific clinical presentation. Here, we describe the case of a 45-year-old woman, who had a swelling over the right foot dorsum for four years for which an excision biopsy was done.