To investigate the association of known candidate genes with the visual field (VF) progression of primary open angle glaucoma (POAG) in a Han Chinese population. We included 440 POAG patients in this study. Fourteen previously reported single nucleotide polymorphisms (SNPs) at five different gene regions (, , , , and ) were genotyped. Age at diagnosis, gender, intraocular pressure (IOP), mean defect (MD) of VF, vertical cup disk ratio (VCDR), best corrected visual acuity (BCVA), central corneal thickness (CCT), and axial length (AL) were recorded at baseline. Patients were followed up for 5 years to evaluate VF progression over time. Clinical information and allele frequencies of 14 SNPs were compared between patients who progressed and who did not within 5 years by multivariate logistic regression. Survival analysis was performed to evaluate the contribution of the associated SNP by cox regression. Greater MD ( < 0.0001), increased VCDR ( = 0.0001), higher IOP ( = 0.0003), worse BCVA ( = 0.002), and older age ( = 0.030) at the baseline were associated with VF progression. Both multivariate logistic regression and cox regression survival analysis showed none of the 14 SNPs statistically associated with VF progression adjusted with age at diagnosis, gender, baseline MD, follow-up IOP, CCT, and AL. There were lack of association of SNPs at , , , , loci with VF progression in POAG patients in Han Chinese. Further studies are needed to evaluate the association of genetic variants with VF progression.
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http://dx.doi.org/10.3389/fgene.2018.00488 | DOI Listing |
Cerebellum
January 2025
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Deep brain stimulation (DBS) for essential tremor is remarkably effective, leading to over 80% reduction in standardized tremor ratings. However, for certain types of tremor, such as those accompanied by ataxia or dystonia, conventional DBS targets have shown poor efficacy. Various rationales for using cerebellar DBS stimulation to treat tremor have been advanced, but the varied approaches leave many questions unanswered: which anatomic target, stimulation settings, and indications seem most promising for this emerging approach.
View Article and Find Full Text PDFClin Rheumatol
January 2025
Department of Nephrorheumatology, Beijing Jishuitan Hospital Guizhou Hospital, Beijing, China.
Hip involvement is a common condition in about one-third of patients with axial spondyloarthritis (axSpA). We assessed the incidence of possible factors that predispose patients to limited flexion after total hip arthroplasty (THA) for the treatment of axSpA. We retrospectively reviewed 516 patients with axSpA (759 hips) who underwent THA.
View Article and Find Full Text PDFHum Genet
January 2025
TCS Research, Tata Consultancy Services, Hyderabad, India.
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here we report an improved method for predicting the VUS of Arylsulfatase A (ARSA) gene as part of the Critical Assessment of Genome Interpretation challenge (CAGI6). Our method uses a transfer learning approach that leverages a pre-trained protein language model to predict the impact of mutations on the activity of the ARSA enzyme, whose deficiency is known to cause a rare genetic disorder, metachromatic leukodystrophy.
View Article and Find Full Text PDFGeospat Health
January 2025
Faculty of Public Health, Khon Kaen University, Khon Kaen.
Antibiotic Self-Medication (ASM) is a major contributing factor to Antimicrobial Resistance (AMR) that can lead to both mortality and long-term hospitalizations. High provincial ASM proportions associated with mortality due to AMR have been observed in Thailand but there is a lack of studies on geographic factors contributing to ASM. The present study aimed to quantify the distribution of ASM in Thailand and its correlated factors.
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