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Ann Neurol
January 2025
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
The long-term clinical outcomes and associated prognostic factors in contactin-associated protein-like 2 (CASPR2)-antibody diseases are unknown. A total of 75 participants with CASPR2 antibodies were longitudinally assessed for disability, quality-of-life, and chronic pain. Although most symptoms improved within 6 months of treatment, neuropathic pain and fatigue were the most immunotherapy refractory, and persisted for up to 6 years.
View Article and Find Full Text PDFNeurol Sci
January 2025
Department of Infectious Diseases, Shenzhen Nanshan People's Hospital, Shenzhen University Medical School, Shenzhen, 518052, China.
Background: Glial fibrillary acidic protein (GFAP) astrocytosis is a rare autoimmune encephalitis discovered in the last decade. The diagnosis depends on clinical symptoms, imaging, and antibody testing. However, most cases require several months or even longer to make a definite diagnosis.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurology, Seoul Hospital, Ewha Womans University College of Medicine, 260, Gonghang-daero, Gangseo-gu, Seoul, 07804, Republic of Korea.
The association between insulin resistance and increased risk of Parkinson's disease (PD) has rarely been investigated. Our study aimed to investigate the association between the triglyceride/high-density lipoprotein (TG/HDL) ratio (which represents insulin resistance), and the incidence risk of PD in the general population. This study was conducted using data from the National Health Insurance Service-Health Screening Cohort Database of South Korea (2002-2019).
View Article and Find Full Text PDFAm J Gastroenterol
January 2025
Department of Neurology, Seoul Hospital, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
Introduction: Periodontitis and other oral health indicators are reportedly related to systemic inflammation. Our study aimed to investigate a possible association of oral health status (periodontitis and number of missing teeth) and oral hygiene behaviors (frequency of tooth brushing, dental visit, and dental scaling) with the risk of inflammatory bowel disease (IBD) incidence.
Methods: Utilizing the Korean National Health Insurance Database, we conducted a nationwide, population-based cohort study involving participants from the 2003 national health screening program.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
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