Search

Background: Inherited retinal dystrophy (IRD) is a group of irreversible retinal degenerative disorders with significant genotypic and phenotypic heterogeneity, which cause difficulty in making a precise clinical diagnosis. Furthermore, the mutation spectrum of IRD in Taiwan remains unknown. Therefore, our study focused on investigating the spectrum of mutations among Taiwanese families with IRD using targeted exome sequencing (TES) technology. Methods: We recruited a total of 60 unrelated Taiwanese families with IRD; most of them were retinitis pigmentosa. We employed TES to investigate 284 candidate genes. Bioinformatics analysis, Sanger sequencing‐based co‐segregation testing, and computational assessment were performed to validate each mutation and its pathogenicity. The genotype‐phenotype correlation was analysed in all patients with mutations defined in the guidelines provided by the American College of Medical Genetics. Results: We successfully identified genetic causes in 32 families (detection rate of 53.3%). Among them, 16 had a sporadic inheritance (16/36, 44.4%); eight had an autosomal recessive inheritance (8/14, 57.1%); four had an autosomal dominant inheritance (4/5, 80%); four had an X‐linked inheritance (4/5, 80%). Among 38 pathological mutations in 19 known genes, 20 mutations are reported here for the first time. Novel mutation spectrum and genotype‐phenotype correlations were revealed as well. Conclusion: Here we achieved a detection rate of 53.3% and elucidated the mutation spectrum in Taiwanese families with IRD for the first time. The results indicated that CYP4V2 and USH2A might be the most common pathogenic genes in IRD patients in Taiwan. [ABSTRACT FROM AUTHOR]

Purpose: This paper aims to propose and test a moderated mediation model examining the relationships among ethical work climate, organizational identification, leader-member-exchange (LMX) and organizational citizenship behavior (OCB). Design/methodology/approach: Numerous regression analyses were performed using PROCESS (version 2.13), a macro for SPSS developed by Hayes (2017) to test this moderated mediation model. Findings: The analytical results showed that organizational identification mediates the positive relationship between an ethical work climate and OCB. The analytical results also showed that LMX moderates the direct effect of ethical work climate on organizational identification and that LMX also moderates the indirect effect of ethical work climate on OCB via organizational identification. Practical implications: This study provides numerous valuable implications for hotels to develop effective strategies to promote employees' OCB and improve their organizational identification. Originality/value: This study was the first attempt to propose and test a moderated mediation model that explores the relationships among ethical work climate, organizational identification, leader-member-exchange (LMX) and OCB. [ABSTRACT FROM AUTHOR]

Three transects were established along the southwestern coast of Taiwan; transects from north to south were respectively extended from the Kaohsiung Harbor, Kaoping River estuary, and Fangshan River estuary. Six metals including Pb, Cd, Cr, Cu, Zn, and Ni were analyzed in the zooplankton and seawater samples. A total of 24 groups of zooplankton were identified. Calanoid was the frequently collected group and accounted for greater than 40% of the relative abundance of zooplankton. Results showed that metal concentrations in seawater close to coast were higher than those in the outside of transect. The mean of metal concentrations in zooplankton followed the hierarchy: Zn > Cu > Pb > Ni > Cr > Cd. On the whole, metal concentrations in zooplankton from sampling sites in the coastal region were observed to be higher than those in the offshore region. The bioconcentration factor of zooplankton ranged within 103–105 for all studied metals and indicated that zooplankton in the seawater of southwestern Taiwan can accumulate metal even at background concentrations of metals. The value of diversity indices exhibited an increase in the distance to the coast, whereas the abundance showed no significant correlation with that. Consequently, the lowest mean abundance of zooplankton and the highest average metal bioaccumulation were found in transect outside Kaohsiung Harbor, representing that Kaohsiung Harbor has the contamination of anthropogenic metals that results in the impact on zooplankton. [ABSTRACT FROM AUTHOR]

Coastal upwelling is important for coastal ecosystems and the blue economy because of its large productivity and large potential for catching fish. However, coastal upwelling along the Taiwan east coast has received little attention from the research community. This study used five-year daily Himawari-8 geostationary satellite sea surface temperature data to map the coastal upwelling east of Taiwan during the summer monsoon season. We applied a semi-automatic image process technique based on the topographic position index for the quantitative upwelling mapping. The results show clear evidence of seasonal coastal upwelling along the entire Taiwan east coast, mainly under the influence of upwelling-favorable southwesterly/southerly winds. There are three broad upwelling centers along the Taiwan east coast: north, central, and south. The upwelling around the northern center has the longest upwelling season, lasting from May to September. The upwelling extents are larger between June and August during the height of the summer monsoon. [ABSTRACT FROM AUTHOR]

Background: Atherosclerosis shares common pathogenic features with myocardial infarction (MI) and ischemic stroke. BRCA-1 associated protein (BRAP), a newly identified risk gene for MI, aggravates the inflammatory response in atherosclerosis. The aim of this study was to test the association between the BRAP gene and stroke in a Taiwanese population., Methods: A total of 1,074 stroke patients and 1,936 controls were genotyped for the functional SNP rs11066001. In our previous studies, the rare allele of this SNP has been repeatedly shown to exert a recessive effect. Therefore, in the current study, we tested for the same recessive model. First, the genotype distributions between all the controls and all the stroke cases were compared. Then to reduce heterogeneity, we explored several population subsets by selecting young stroke subjects (using 45 years of age as the cutoff point), age- and sex-comparable controls, plaque-free controls, and stroke subtypes., Results: We did not find any significant association for the entire data set (OR = 0.94, p = 0.74) or for the subset analyses using age- and sex-comparable controls (p = 0.70) and plaque-free controls (p = 0.91). Analyses of the four stroke subtypes also failed to show any significant associations (p = 0.42 - 0.98). For both young and old subjects, the GG genotype of rs11066001 was similar in the stroke cases and unmatched controls (8.1% vs. 9.4% in young subjects and 8.0% vs. 7.8% in old subjects). Comparing stroke cases with plaque-free controls also failed to find any significant association., Conclusions: The BRAP polymorphism may not play an important role in ischemic stroke in the studied population.