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Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we validated the assays effectiveness and clinical utility and characterized the mutation spectrum of Taiwanese IRD patients. Between January 2018 and May 2022, 493 patients in 425 unrelated families, all initially suspected of having IRD without prior genetic diagnoses, underwent detailed ophthalmic and physical examinations (with extra-ocular features recorded) and genetic testing with our customized panel. Disease-causing variants were identified by segregation analysis and clinical interpretation, with validation via Sanger sequencing. We achieved a read depth of >200× for 94.2% of the targeted 1.2 Mb region. 68.5% (291/425) of the probands received molecular diagnoses, with 53.9% (229/425) resolved cases. Retinitis pigmentosa (RP) is the most prevalent initial clinical impression (64.2%), and 90.8% of the cohort have the five most prevalent phenotypes (RP, cone-rod syndrome, Ushers syndrome, Lebers congenital amaurosis, Bietti crystalline dystrophy). The most commonly mutated genes of probands that received molecular diagnosis are USH2A (13.7% of the cohort), EYS (11.3%), CYP4V2 (4.8%), ABCA4 (4.5%), RPGR (3.4%), and RP1 (3.1%), collectively accounted for 40.8% of diagnoses. We identify 87 unique unreported variants previously not associated with IRD and refine clinical diagnoses for 21 patients (7.22% of positive cases). We developed a customized gene panel and tested it on the largest Taiwanese cohort, showing that it provides excellent coverage for diverse IRD phenotypes.

Recreationist delight refers to the positive emotional response to surprising leisure experiences in specific recreational settings. Recreationist-environment fit signifies the compatibility between the recreationist and their recreational environment. This fit is realized when they satisfy each other's needs and when the recreationist and environment manager share similar values. This study proposed and tested the relationship between the recreationist-environment fit (including its six dimensions) and recreationist delight (including its three dimensions). The results indicated that the recreationist-environment fit had a significant positive impact on recreationist delight. These findings have managerial implications and provide useful reference data for future research. [ABSTRACT FROM AUTHOR]

ABSTRACT Up to date, the morbidity and mortality rates of acute lung injury (ALI) still rank high among clinical illnesses. Endotoxin, also called lipopolysaccharide (LPS), induced sepsis is the major cause for ALI. Beneficial biological effects, such as antioxidation, anti-inflammation, and neuroprotection was found to express by 5,7-dihydroxy-8-methoxyflavone (DHMF). The purpose of present study was to investigate the potential protective effects of DHMF and the possibile mechanisms involved in LPS-induced ALI. In our experimental model, ALI was induced in mice by intratracheal injection of LPS, and DHMF at various concentrations was injected intraperitoneally for 30 min prior to LPS administration. Pretreatment with DHMF inhibited not only the histolopatholgical changes occurred in lungs but also leukocytes infiltration in LPS-induced ALI. Decreased activity of antioxidative enzymes (AOE) such as superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) caused by LPS was reversed by DHMF. LPS-induced lipid peroxidation HIF-1α accumulation, NF-κB phosphorylation, and IκBα degradation were all inhibited by DHMF. In addition, LPS-induced expression of proinflammatory mediators such as TNF-α and IL-1β were also inhibited by 5,7-dihydroxy-8-methoxyflavone. These results suggested that the protective mechanisms of DHMF on endotoxin-induced ALI might be via up-regulation of antioxidative enzymes, inhibition of NFκB phosphorylation, and HIF-1α accumulation. © 2015 Wiley Periodicals, Inc. Environ Toxicol 31: 1700-1709, 2016. [ABSTRACT FROM AUTHOR]

Following the cultural decline of the Zhou and ruthless rule of the Qin, Han dynasty scholars’ major task was to restore the great cultural lineage of the Three Dynasties. The efforts of scholars such as Dong Zhongshu ..., Sima Qian ..., Liu Xin ..., Ban Gu ..., He Xiu ..., and Zheng Xuan ... all deal with the cultural and historical experience of those earlier times and attempt to identify the rules that were used to govern human affairs. Collectively their work can be referred to as the Three Dynasties Cultural Theory ... of the Han dynasty. This theory draws on the historical experience of the Xia, Shang, and Zhou dynasties to produce formulations that gradually evolved into a system of governing by decree and educating the populace that was essential to the successful establishment of a new dynasty. It covered resetting the calendar, regulating dress codes and transportation for rites, inventing words and symbols, changing instruments used in rites, music, and battles, and establishing new ritual and ceremonial dress codes. This paper discusses Han scholars’ Three Dynasties Cultural Theory, aiming to understand Han dynasty perspectives on history, time, government, and culture, as well as to study the similarities between the Gongyang Commentary on the Spring and Autumn Annals ... and Book of Rites .... [ABSTRACT FROM AUTHOR]