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Abstract Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. Case presentation A 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for a brain aneurysm. She had no history of systemic diseases, except for unsatisfactory best-corrected visual acuity (BCVA) since elementary school. Electrophysiological tests confirmed the findings in retinal images, indicating optic nerve atrophy. Chromosomal microarray analysis revealed a de novo deletion spanning 960 kb on chromosome 3q29, encompassing OPA1 and six neighboring genes. Unlike previously reported deletions in this region associated with optic atrophy, neuropsychiatric disorders, and obesity, this patient displayed a unique combination of optic atrophy and a brain aneurysm. However, there is no causal relationship between the brain aneurysm and the CNV. Conclusion In conclusion, the optic atrophy is conclusively attributed to the OPA1 deletion, and the aneurysm could be a coincidental association. The report emphasizes the likelihood of underestimating OPA1 deletions due to sequencing technology limitations. Recognizing these constraints, healthcare professionals must acknowledge these limitations and consistently search for OPA1 variants/deletions in Autosomal Dominant Optic Atrophy (ADOA) patients with negative sequencing results. This strategic approach ensures a more comprehensive exploration of copy-number variations, ultimately enhancing diagnostic precision in the field of genetic disorders.

This study quantified the impact of climate on the international tourism demand in China. Due to rising awareness and urgency to combat climate change, there is a growing need to better grasp the possible implications and the risk of climate change to the tourism industry. The tourists’ travel decision can be influenced by both climatic and non-climatic factors, and thus this study has integrated both factors into the models. The climatic variable is represented by Tourism Climate Index (TCI) and Holiday Climate Index (HCI) while the selected non-climatic determinants are tourists’ income, tourism price, exchange rate and transportation cost. The empirical findings showed that climate conditions significantly and adversely affect China’s tourism demand. Tourists’ income level, as expected, positively affects their decision to travel to China. Meanwhile, the tourism price, exchange rate, and transportation cost negatively impact China’s tourism industry. Although some valuable results have been found, more works are required to understand its long-haul significance to the tourism industry, especially during extreme events such as extreme weathers, pandemics, financial crises and etc.

Background: Hemodialysis (HD) is a public health issue, and HD-induced infection is a major risk factor for mortality. Toll-like receptor 4 (TLR4) plays a key role in the pathogenesis of infection. However, polymorphisms of TLR4 contribute to infection are still unknown. Aim: This study aimed to examine the correlation between polymorphisms of TLR4 and mortality among HD patients. Methods: This retrospective cohort study included 585 participants from Tri-Service General Hospital in Taipei from 2011 to 2015. All participants were genotyped for TLR4 rs10116253T/C and rs7873784G/C by the iPLEX Gold single-nucleotide polymorphisms assay. Analysis of the conditional Cox proportional hazard model was used to test the association between TLR4 polymorphisms and mortality. Results: Our results show that adjustment with age and gender, TLR4 rs10116253T/C demonstrates an association with mortality (hazard ratio [HR] =1.38, 95% confidence interval [CI] =1.00–1.89) in a dominant model, especially in infection-related mortality (HR = 2.14, 95% CI = 1.04–4.43) of HD patients. Conclusion: The results demonstrate that TLR4 rs10116253T/C may play a role in the etiology of infection among HD patients.

Methamphetamine use disorder (MUD) is an illness associated with severe health consequences. Virtual reality (VR) is used to induce the drug-cue reactivity and significant EEG and ECG abnormalities were found in MUD patients. However, whether a link exists between EEG and ECG abnormalities in patients with MUD during exposure to drug cues remains unknown. This is important from the therapeutic viewpoint because different treatment strategies may be applied when EEG abnormalities and ECG irregularities are complications of MUD. We designed a VR system with drug cues and EEG and ECG were recorded during VR exposure. Sixteen patients with MUD and sixteen healthy subjects were recruited. Statistical tests and Pearson correlation were employed to analyze the EEG and ECG. The results showed that, during VR induction, the patients with MUD but not healthy controls showed significant $\alpha $ and $\beta $ power increases when the stimulus materials were most intense. This finding indicated that the stimuli are indiscriminate to healthy controls but meaningful to patients with MUD. Five heart rate variability (HRV) indexes significantly differed between patients and controls, suggesting abnormalities in the reaction of patient’s autonomic nervous system. Importantly, significant relations between EEG and HRV indexes changes were only identified in the controls, but not in MUD patients, signifying a disruption of brain-heart relations in patients. Our findings of stimulus-specific EEG changes and the impaired brain-heart relations in patients with MUD shed light on the understanding of drug-cue reactivity and may be used to design diagnostic and/or therapeutic strategies for MUD.

Background There is a significant burden of stroke in Asia. Asia has the largest population in the world in 2023, estimated at 4.7 billion. Approximately 9.5-10.6 million strokes will be anticipated annually in the backdrop of a diverse group of well-developed and less developed countries with large disparities in stroke care resources. In addition, Asian countries are in varying phases of epidemiological transition. Summary In this review, we examined recent epidemiological features of ischaemic stroke and intracerebral haemorrhage in Asia with recent developments in hyperacute stroke reperfusion therapy and technical improvements in intracerebral haemorrhage. The article also discussed the spectrum of cerebrovascular diseases in Asia which include intracranial atherosclerosis, intracerebral haemorrhage, infective aetiologies of stroke, moyamoya disease, vascular dissection, radiation vasculopathy and cerebral venous thrombosis. Key Messages The review of selected literature and recent updates, call for attention to the different requirements for resources within Asia and highlights the breadth of cerebrovascular diseases still requiring further research and more effective therapies,

Low molecular weight heparin (LMWH) is often used to prevent perioperative venous thrombosis after surgery, but aspirin is also recommended by academics. Studies were searched in electronic databases until February 24, 2023. We performed a meta-analysis to evaluate the safety and efficacy of aspirin and LMWH for venous thromboembolism (VTE) prophylaxis in patients after orthopedic surgery. The outcomes were death from any causes, deep vein thrombosis (DVT), pulmonary embolism (PE), etc. This study was registered with INPLASY, number 202320117. Six randomized controlled trials enrolled 13,851 patients with postoperative joint surgery. The risk of DVT was comparable between the two groups when aspirin was combined with mechanical devices (RR 0.61 [95% CI 0.27–1.39], I² = 62%, P = 0.24). No significant differences in all cause death, PE, wound infection, and wound complication were found between the aspirin and LMWH groups. In this meta-analysis, the mortality rate was comparable between the aspirin and LMWH groups. However, aspirin alone had a higher risk of DVT than LMWH. Based on the results of this meta-analysis, we suggest aspirin combined with mechanical devices for VTE prophylaxis in patients after orthopedic surgery.

Abstract Background Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with variable mitochondrial dysfunctions. Results We have previously reported a 16-year-old Taiwanese male diagnosed with OPA13 and SSBP1 variant c.320G>A (p.Arg107Gln) was identified by whole exon sequence (WES). This variant was assumed to be de novo since his parents were clinically unaffected. However, WES and Sanger sequencing further revealed the proband’s unaffected mother carrying the same SSBP1 variant with a 13% variant allele frequency (VAF) in her peripheral blood. That finding strongly indicates the maternal gonosomal mosaicism contributing to OPA13, which has not been reported before. Conclusions In summary, we described the first case of OPA13 caused by maternal gonosomal mosaicism in SSBP1. Parental mosaicism could be a serious issue in OPA13 diagnosis, and appropriate genetic counseling should be considered.

Background: Normal ECG standards in newborns, infants, children and adolescents have been collected and published by many authors. Only those by Davignon et al., Rijinbeek et al. and our two studies covered all ages from birth to adolescence. The standards reflecting the growth and development of the heart in infants, children and adolescents remained to be studied and explored. Methods: We selected from our ECG database, after discussions and consultation, 15 key ECG parameters and analyzed for their age- and sex-specific mean, standard deviation and 2nd to 98th percentiles and their percentile charts were constructed. Results: The ranges and distributions of the normal ECG standards, means and 2nd to 98th percentiles of 15 key parameters were established. Conclusion: A complete set of normal ECG standards of 15 key parameters from birth to adolescents is available for clinicians and researchers.

Abstract Children and adolescents are vulnerable to non-accidental injury. Early identification and prevention rely on detailed epidemiological studies, which are limited in Asia. This retrospective study used the registry data of Pan-Asian Trauma Outcome Study (PATOS) from October 1, 2015 to December, 31, 2020. Pediatric patients (aged 24. The study enrolled 451 patients with non-accidental injuries, accounting for 2.81% of pediatric trauma events presented to an emergency department in the PATOS registry. The overall mortality rate was 0.9%, similar to those in Western countries. Mortality rate was high in preschool children (8.7%, p = 0.017) than in other age groups. The sex-specific incidence was higher in boys (3.10% vs. 2.13%, p = 0.001). In adolescents, more events occurred on the street (25.9%), whereas home remained the most common locale in girls of all ages. In the multivariable regression analysis, abdominal and multiple injuries were risk factors for major trauma.

Abstract Data on long-term outcomes and biological drivers associated with depth of remission after BCL2 inhibition by venetoclax in the treatment of chronic lymphocytic leukemia (CLL) are limited. In this open-label parallel-group phase-3 study, 432 patients with previously untreated CLL were randomized (1:1) to receive either 1-year venetoclax-obinutuzumab (Ven-Obi, 216 patients) or chlorambucil-Obi (Clb-Obi, 216 patients) therapy (NCT02242942). The primary endpoint was investigator-assessed progression-free survival (PFS); secondary endpoints included minimal residual disease (MRD) and overall survival. RNA sequencing of CD19-enriched blood was conducted for exploratory post-hoc analyses. After a median follow-up of 65.4 months, PFS is significantly superior for Ven-Obi compared to Clb-Obi (Hazard ratio [HR] 0.35 [95% CI 0.26–0.46], p

Losartan has become a hot spot in the treatment of non-alcoholic fatty liver disease (NAFLD) among angiotensin receptor blocker drugs. We sought to conduct a systematic examination and meta-analysis to examine the effects of losartan on patients with NAFLD. We searched for potentially randomized controlled trials in PubMed, Embase, China National Knowledge Infrastructure, Wanfang, and the Cochrane database up to October 09, 2022. We used the Cochrane risk of bias tool to evaluate the study quality. Analysis of subgroups, sensitivity analysis, and publishing bias were explored. The quality of the included studies was moderate to high. Six trials involving 408 patients were included. The meta-analysis demonstrated that aspartate transaminase was significantly affected by losartan therapy (mean difference [MD] = −5.34, 95% confidence interval [CI] [−6.54, −4.13], Z = 8.70, P < 0.01). The meta-analysis subgroup showed that losartan 50 mg once daily could lower the level of alanine aminotransferase (MD = −18.92, 95% CI [−21.18, −16.66], Z = 16.41, P < 0.01). There was no statistically significant difference in serum total cholesterol, triglyceride, low-density lipoprotein, and high-density lipoprotein.

Abstract PM $$_{2.5}$$ 2.5 prediction plays an important role for governments in establishing policies to control the emission of excessive atmospheric pollutants to protect the health of citizens. However, traditional machine learning methods that use data collected from ground-level monitoring stations have reached their limit with poor model generalization and insufficient data. We propose a composite neural network trained with aerosol optical depth (AOD) and weather data collected from satellites, as well as interpolated ocean wind features. We investigate the model outputs of different components of the composite neural network, concluding that the proposed composite neural network architecture yields significant improvements in overall performance compared to each component and the ensemble model benchmarks. The monthly analysis also demonstrates the superiority of the proposed architecture for stations where land-sea breezes frequently occur in the southern and central Taiwan in the months when land-sea breeze dominates the accumulation of PM $$_{2.5}$$ 2.5 .