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N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.
View Article and Find Full Text PDFChallenges in intraoperative differentiation of craniopharyngioma and Rathke cleft cyst on endoscopic visualization.
J Clin Neurosci
January 2025
Department of Neurosurgery, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Background: Craniopharyngiomas are epithelial tumors derived from the remnants of the Rathke pouch, while Rathke cleft cysts (RCC) are benign cystic lesions originating from the Rathke pouch itself [1]. Rathke cleft cysts comprise 10-15% of the hypophyseal tumors, while craniopharyngiomas are relatively rare, comprising only 2-5% of intracranial tumors [2]. Both located in the sellar and parasellar regions and share clinical symptoms including headache, visual disturbances, and endocrine dysfunction [3].
View Article and Find Full Text PDFBariatric surgery and alcohol and substance use: A case-control survey study.
Drug Alcohol Depend
December 2024
Clinical Psychoneuroendocrinology and Neuropsychopharmacology Section, Translational Addiction Medicine Branch, National Institute on Drug Abuse Intramural Research Program and National Institute on Alcohol Abuse and Alcoholism Division of Intramural Clinical and Biological Research, National Institutes of Health, Bethesda, Baltimore, MD, USA. Electronic address:
Purpose: Studies suggest alcohol and/or other substance misuse may develop after bariatric surgery (BS), but findings are not consistent or conclusive.
Procedures: This cross-sectional online survey investigated alcohol and other substance use, via a modified version of the Alcohol Use Disorders Identification Test, before and after bariatric surgery, compared to a non-bariatric surgery sample. Data were anonymously collected via Qualtrics from adults who reported alcohol or substance use (BS, n = 328; non-BS, n = 292).
L-arginine in patients with spinocerebellar ataxia type 6: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.
EClinicalMedicine
December 2024
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Background: Therapeutic advancements for the polyglutamine diseases, particularly spinocerebellar degeneration, are eagerly awaited. We evaluated the safety, tolerability, and therapeutic effects of L-arginine, which inhibits the conformational change and aggregation of polyglutamine proteins, in patients with spinocerebellar ataxia type 6 (SCA6).
Methods: A multicenter, randomized, double-blind, placebo-controlled phase 2 trial (clinical trial ID: AJA030-002, registration number: jRCT2031200135) was performed on 40 genetically confirmed SCA6 patients enrolled between September 1, 2020, and September 30, 2021.
A Rare Case of High-Pressure Paint Injection Causing a Penetrating Neck Injury.
Cureus
December 2024
Otolaryngology, Imperial College London Healthcare National Health Service (NHS) Trust, London, GBR.
We report a case of a 45-year-old gentleman who presented to our major trauma centre after sustaining a penetrating high-pressure paint injection injury to the neck. This rare mechanism of injury is most commonly reported to affect the non-dominant hand, occurring due to the malfunction or misuse of industrial paint machines, causing a piercing soft tissue injury with high-pressure fluid. The unique challenges faced in managing penetrating injuries to the neck are due to the density of vital visceral structures in the region, including major blood vessels and the upper aerodigestive tract.
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