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Abstract Purpose Early detection of lifestyle factors, skin and hair color, circulating parameters, and metabolic comorbidities is crucial for personalized prevention and treatment of early age-related macular degeneration (AMD). This study aimed to assess the relationships between genetically predicted comprehensive risk factors and early AMD. Methods and results Publicly available genome-wide association study (GWAS) data were utilized to identify genetic variants significantly associated with each trait. We applied a Bonferroni-corrected significance level of P

Abstract Background Exercise is widely known to lower intraocular pressure and increase ocular blood flow, which may be beneficial for glaucoma management. However, there are few studies that have reported on the relationship between exercise and glaucoma progression. The aim of our study was to investigate the exercise habits of those with primary open angle glaucoma (POAG) and its association with the progression of visual field (VF) loss. Methods Daily physical activity (PA) was monitored by an accelerometer (ActiGraph wGT3x-BT) which patients wore for more than 10 h of being awake on their right wrists for 1 week. Results Seventy-one non-progressive and 27 progressive patients were enrolled in the study. 24-h moderate to vigorous physical activity (MVPA) exercise showed that POAG patients had similar variation trends consisting of 3 wave peaks and 2 wave hollows. Minutes spent in MVPA was 19.89 ± 15.81 and 21.62 ± 15.10 during 07:00–09:00 h (p = 0.204), 15.40 ± 14.49 and 15.67 ± 12.43 during 15:00–17:00 h (p = 0.822) and 17.26 ± 21.11 and 11.42 ± 11.58 during 18:00–20:00 h (p = 0.001) in the non-progressive and progressive group, respectively. Univariate analysis indicated that 10 min of MVPA (18:00–20:00 h) [odds ratio, OR (95% CI) = 0.82 (0.73, 0.92)], average mean arterial pressure [OR (95% CI) = 0.96 (0.94, 0.98)], age [OR (95% CI) = 1.06 (1.03, 1.08)], male [OR (95% CI) = 0.67 (0.48, 0.96)], spherical equivalent [OR (95% CI) = 1.14 (1.07, 1.22)] and IOP-lowering medications [OR (95% CI) = 1.54 (1.16, 2.05)] were significantly correlated with having progressive VF damage. Multivariable analysis showed that 10 min of MVPA (18:00–20:00 h) [OR (95% CI) = 0.85 (0.75, 0.97)] was associated with progressive VF loss even after adjusting for other risk factors. Conclusions Evening exercise may lower the odds of VF progression, suggesting that exercise habits possibly play an important role in glaucoma progression.

Abstract Background Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy. Case presentation A 38-year-old woman presented with mild hand tremor, scanning speech, nystagmus, cerebellar ataxia in the upper limbs, memory decline, tinnitus, and dizziness. An ophthalmologic examination indicated macular atrophy, pigment epithelium atrophy and choroidal capillary atrophy. Brain magnetic resonance imaging (MRI) showed the diffuse white matter involvement of specific white matter tracts. Decreased diffusion anisotropy was detected in various brain regions of the patient. Diffusion tensor tractography (DTT) showed obviously thinner tracts of interest than in the controls, with a decreased fiber number (FN), increased radial diffusivity (RD) and unchanged axial diffusivity (AD). A novel homozygous c.2257C > T (p.Arg753Ter) mutation in exon 20 of the CLCN2 gene was identified. Conclusion CC2L is a rare condition characterized by diffuse edema involving specific fiber tracts that pass through the brainstem. The distinct MRI patterns could be a strong indication for CLCN2 gene analysis. The findings of our study may facilitate the understanding of the pathophysiology and clinical symptoms of this disease.

Abstract Background Increasing human immunodeficiency virus (HIV) testing is critical for HIV control. This study aimed to evaluate the interaction between social norms and self-efficacy on HIV testing among Chinese men who have sex with men (MSM). Methods We conducted an online survey in eight Chinese cities in Shandong and Guangdong Provinces in July 2016. We included participants who were born as a male, at least 16 years old, currently living in one of the designated cities, and had ever engaged in anal sex with a man. We collected information regarding socio-demographics, high-risk behaviors, and history of HIV and other STI testing. We coded sensitivity to social norms using six items asking participants about their perceived social norm regarding HIV testing. We coded HIV testing self-efficacy using a separate six-item scale. We interpreted higher mean scores as higher sensitivity to social norms and higher self-efficacy, respectively. We conducted logistic regressions to evaluate the interaction between self-efficacy and social norms on HIV testing. Results A total of 2105 men completed the survey. The mean age of the participants was 25.97 ± 6.42 years. Over four-fifths (85.9%) of participants were unmarried, 22.7% were students, and 64.6% at least had a college degree. 62.5 and 32.6% of participants ever and tested HIV in the last three months, respectively. With respect to uptake of HIV testing in the last three months, the adjusted odds ratio was 1.01(95% CI: 0.96–1.06) for higher sensitivity to social norms and 1.09 (95% CI: 1.05–1.14) for higher self-efficacy, with an interaction effect of 1.02 (95% CI: 1.01–1.03), respectively. With respect to uptake of lifetime HIV testing, the adjusted odds ratio was 1.03(95% CI: 0.99–1.07) for higher sensitivity to social norms and 1.15 (95% CI: 1.11–1.19) for higher self-efficacy, with an interaction effect of 1.02 (95% CI: 1.01–1.04), respectively. Conclusions Our survey demonstrated that there is a significant association between the uptake of HIV testing with sensitivity to the social norm, higher self-efficacy, as well as the interaction between them. Tailored studies for improving HIV testing among MSM in China can combine these two interventions together.