Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

Research on Improving Artistry of Exhibitions in History Museums in China

Chinese civilization,with its long and continuous history and rich cultural heritage,plays a central role in China’s dialogue with other civilizations.Therefore,it is necessary to collect and refine the defining symbols and best elements of Chinese culture and showcase them to the world;develop discourse and narrative systems with Chinese characteristics,better tell China’s stories,and make China’s voice heard.This effort can help Chinese civilization shine globally,interact with other civilizations,and promote its communication and influence worldwide.In China,history museums,as physical carriers of Chinese civilization,are an important component in developing Chinese discourse and narrative systems and an important channel to better tell China’s stories and make China’s voice heard.Improving the artistry of museum exhibitions caters to the public’s growing demand for a more enriching cultural experience and substantially promotes Chinese culture on a global scale.With the communication of Chinese civilization as the main focal point,this study investigated the current issues related to the artistry of history museum exhibitions in China and defined the artistry of history museum exhibitions and their connotations.Based on an in-depth analysis of the artistry of historical museum exhibitions within China,this paper enumerated the areas where improvements could be made to enhance exhibition artistry,intending to promote the communication of Chinese civilization.

Beauty in the Gathering:Exhibition of Precious Collection from Art Museums Around China

"Beauty in the Gathering:Exhibition of Precious Collection from Art Museums around China"opens at the National Art Museum of China(NAMOC)on February 1 and lasts until April 1.The exhibition provides a glimpse of the great variety of art collected by 15 museums,and distinctive features that vary from region to region,which has witnessed the further prosperity and development of the art museum industry since the new era.The exhibition showcases over 500 pieces of traditional Chinese painting,oil painting,printmaking,watercolor painting,lacquer painting,sculpture,folk art,mixed media art,calligraphy and other collections provided by these museums.

Integration of Environmental and Social Values in Cultural Spaces:Sustainable and Inclusive Wayfinding Materials for Museums

In the context of use of large museum centers,numerous national and international methodological experiments show that the wayfinding project must consider the needs of both habitual users(user-centered design)and local communities(design for communities)and the importance of environmental protection(eco-design)as a priority interest of the community.This“double target”,“user-centered”and“environment-centered”can be applied during the selection process of materials to be used in the project.With respect to these possibilities,this contribution intends to present the results of research focused on material characterization of the reception and distribution spaces of large museum centers.This characterization is based on use of sensory materials and aims to evaluate their impact on the usability and sustainability of wayfinding systems.The paper directed towards a proposal for organization of integrated information on new generation so-called smart materials;within the design of a wayfinding system,these can balance the aesthetic-perceptual and performance and environmental impact,in order to allow designers to make informed decisions oriented towards inclusion and sustainability.The study was addressed by conducting two phases of systematic literature and library review of materials.The investigations conducted led to achievement of a first research result which consists in the identification of a“standard sheet”for the mapping and cataloging of the materials used for wayfinding.The“standard sheet”allows organizing the information on smart,sensorial,and eco-friendly materials,balancing the aesthetic-perceptive component with the performance on the environmental impact along the entire life cycle in a circular perspective.This tool could guide designers towards an environmental communication project oriented towards sustainability and is effective for usability and wayfinding.

博物馆手册类文本汉译策略——以Guidelines for Disaster Preparedness in Museums为例

博物馆安全是博物馆工作的重中之重,博物馆的安全为保障博物馆正常运转发挥重要作用。自2019年新冠肺炎疫情暴发以来,博物馆面临的安全形势十分严峻,主要表现为应急措施匮乏、灾害防范不到位以及管理体制不完善等问题。这给全球博物馆的发展带来了新的安全挑战,为博物馆安全提出了更高的要求,如何预防与应对博物馆突发事件成为博物馆安全的重要任务。该文选取了一篇国际博物馆协会官方发布的国际通用手册Guidelines for Disaster Preparedness in Museums为研究对象,从词汇、句法及篇章三个方面分析博物馆手册类文本的特点,归纳三种翻译策略,以期促进我国博物馆健康发展,为博物馆手册文本的翻译研究贡献绵薄之力。

NCHA:More Than 90%Museums Accessible to the Public Nationwide for Free

Recently,Li Qun,Vice Minister of the Ministry of Culture and Tourism and Director of National Cultural Heritage Administration(NCHA),said that China has a total of 6,565 museums with more than 90%museums accessible to the public for free.

Study of Immersion in Augmented Reality Through Analysis of Immersion Elements in Museums

With the advent of the information age,augmented reality technology can enhance the sense of reality in the virtual world and immerse people in the real and virtual world.People have always been interested in virtual space or augmented reality technology,especially in the face of historical development trends.Museums have always been open to the public,they are not just a collection,but also an exhibition for the public.Through analyzing different museums,it is found that museums with augmented reality technology exhibitions are non-profit museums for the purpose of emotional experience.In order to find out the immersion factors of virtual reality in museums,on the basis of previous research,this paper divides immersion in augmented reality into story immersion,five-sense experience immersion,and spatial interaction immersion.Through the analysis of different museums,it is found that immersion through five-sense experience is the most commonly used method when all display media are included.This method provides educational content for museum visitors and projects virtual presentations through monitors and portable IT devices,thereby increasing visitors’viewing pleasure.

Seismic effectiveness evaluation and optimized design of tie up method for securing museum collections

To quantify the seismic effectiveness of the most commonly used fishing line tie up method for securing museum collections and optimize fixed strategies for exhibitions,shaking table tests of the seismic systems used for typical museum collection replicas have been carried out.The influence of body shape and fixed measure parameters on the seismic responses of replicas and the interaction behavior between replicas and fixed measures have been explored.Based on the results,seismic effectiveness evaluation indexes of the tie up method are proposed.Reasonable suggestions for fixed strategies are given,which provide a basis for the exhibition of delicate museum collections considering the principle of minimizing seismic responses and intervention.The analysis results show that a larger ratio of height of mass center to bottom diameter led to more intense rocking responses.Increasing the initial pretension of fishing lines was conducive to reducing the seismic responses and stress variation of the lines.Through comprehensive consideration of the interaction forces and effective securement,it is recommended to apply 20%of breaking stress as the initial pretension.For specific museum collections that cannot be effectively protected by the independent tie up method,an optimized strategy of a combination of fishing lines and fasteners is recommended.

The Educational Adaptive-optics Solar Telescope at the Shanghai Astronomy Museum

The Educational Adaptive-optics Solar Telescope(EAST)at the Shanghai Astronomy Museum has been running routine astronomical observations since 2021.It is a 65-cm-aperture Gregorian solar telescope for scientific education,outreach,and research.The telescope system is designed in an“open”format so that the solar tower architecture can be integrated with it,and visitors can watch the observations live from inside the tower.Equipped with adaptive optics,a high-resolution imaging system,and an integral field unit spectro-imaging system,this telescope can obtain high-resolution solar images in the TiO and Hαbands,and perform spectral image reconstruction using 400 optical fibers at selected wavelengths.It can be used not only in public education and scientific outreach but also in solar physics research.

Analysis on the Development Model of Relic and Museum Tourism Products Based on ERP Analysis:A Case Study on Shandong Province

In recent years, the trend of people choosing relic and museum tourism during their vacationand leisure time is growing day by day, mainly because it touches people's feelings about historical relicsand cultural heritage. The development of relic and museum tourism products is not only the inheritanceof culture and the protection of cultural relics, but also the promotion of tourism consumption under thebackground of cultural tourism integration, which has promoted the development of regional economy.With the relic and museum tourism resources in Shandong Province as the research object, through theanalysis of its resources, market and products, this paper put forward three applicable modes of relic andmuseum tourism product development, including independent development, joint development, and artauthorization, and proposed specific suggestions around the three modes.

A Discussion on the Structure and Spatial Composition of Long Museum West Bund

The Long Museum,with its distinctive T-shaped“umbrella-vault”structure,offers a rich array of spatial experiences.This article delves into space from both structural and compositional perspectives.As the construction mediator,the umbrella vault embodies the consistency of construction and implies the causality of the surface.Presented as an element,the space flows freely,showing diverse fields and order.In terms of the liberation of its meaning,the space offers static perception and dynamic experience,creating a rich exhibition atmosphere.As a distinct entity,the umbrella-vault presents the physical nature,and the dialogue between the Long Museum and the city makes it a museum of art for the people.

Development Strategy of Sichuan Sports Museum under the Background of Cultural and Tourism Integration

Through conducting a SWOT analysis of the Chengdu Sports Institute Museum,and utilizing the 4M management,5W display,and 4P marketing theoretical models,this study explores effective strategies suitable for Sichuan sports museums in terms of functionality,display,and marketing.

Recent progress in third-generation low alloy steels developed under M^3 microstructure control

During the past thirty years, two generations of low alloy steels(ferrite/pearlite followed by bainite/martensite) have been developed and widely used in structural applications. The third-generation of low alloy steels is expected to achieve high strength and improved ductility and toughness, while satisfying the new demands for weight reduction, greenness, and safety. This paper reviews recent progress in the development of third-generation low alloy steels with an M^3 microstructure, namely, microstructures with multi-phase, meta-stable austenite, and multi-scale precipitates. The review summarizes the alloy designs and processing routes of microstructure control, and the mechanical properties of the alloys.The stabilization of retained austenite in low alloy steels is especially emphasized. Multi-scale nano-precipitates, including carbides of microalloying elements and Cu-rich precipitates obtained in third-generation low alloy steels, are then introduced. The structure–property relationships of third-generation alloys are also discussed. Finally, the promises and challenges to future applications are explored.

Innovation and development of the third-generation hybrid rice technology

The breeding and large-scale application of hybrid rice contribute significantly to the food supply worldwide.Currently,hybrid seed production uses cytoplasmic male sterile(CMS)lines or photoperiod/thermo-sensitive genic male sterile(PTGMS)lines as female parent.Despite huge successes,both systems have intrinsic problems.CMS systems are mainly restricted by the narrow restorer resources that make it difficult to breed superior hybrids,while PTGMS systems are limited by conditional sterility of the male sterile lines that makes the propagation of both PTGMS seeds and hybrid seeds vulnerable to unpredictable climate changes.Recessive nuclear male sterile(NMS)lines insensitive to environmental conditions are widely distributed and are ideal for hybrid rice breeding and production,but the lack of effective ways to propagate the pure NMS lines in a large scale renders it impossible to use them for hybrid rice production.The development of"the third-generation hybrid rice technology"enables efficient propagation of the pure NMS lines in commercial scale.This paper discusses the establishment of"the thirdgeneration hybrid rice technology"and further innovations.This new technology breaks the limitations of CMS and PTGMS systems and will bring a big leap forward in hybrid rice production.

Study on Location and Size of National Geopark Museums

The museum of national geopark is the base for science education,and the important component of the national geopark.By analyzing some national Geopark Museums,this paper suggests that in order to build a museum which can plays its maximum benefit, the location and size of national geopark

Applications of sediment sudden deposition model based on the third-generation numerical model for shallow water wave

The existing numerical models for nearshore waves are briefly introduced, and the third-generation numerical model for shallow water wave, which makes use of the most advanced productions of wave research and has been adapted well to be used in the environment of seacoast, lake and estuary area, is particularly discussed. The applied model realizes the significant wave height distribution at different wind directions. To integrate the model into the coastal area sediment, sudden deposition mechanism, the distribution of average silt content and the change of sediment sudden deposition thickness over time in the nearshore area are simulated. The academic productions can give some theoretical guidance to the applications of sediment sudden deposition mechanism for stormy waves in the coastal area. And the advancing directions of sediment sudden deposition model are prospected.

A BRIEF INTRODUCTION TO MEDICAL HISTORY MUSEUMS IN China's Mainland

Medical history museum is one kind ofnatural science museums.Its main functionis to collect and preserve medical relics andsamples for researching into medical history,and for displaying and popularizing medicalknowledge.Since the first such museum

Energy and Sustainability in Museums. The Plant Refurbishment of the Medieval Building of Palagio di Parte Guelfa in Florence

This paper presents a performance-based design of a HVAC plant and controller system of the “Palagio di Parte Guelfa” Palace, a medieval building converted into a museum in the city of Firenze. Transient simulations to evaluate the internal microclimate conditions during the year for the building and the different system plant were carried out. A comparison between the indoor microclimatic parameters obtained and the values suggested by the standards on protection and conservation of historical works of art, suggested a non-invasive and reversible plant system solution. The MuseumofHistorical Footballbuilding portion is the case study. The proposed plant, a constant air flow system coupled with radiant panels dry mounted above the existing flooring, was simulated throughout the year under transient conditions to evaluate its energy performance. This solution ensures indoor temperature and humidity values suitable for the conservation of works of art and visitor comfort. It is an example of a possible course of action for a plant refurbishment in a historic building converted into a museum, located in climatic regions characterized by high thermal and solar loads. The present paper concerns the study of an integrated and reversible architectural-plant solution proposed: reversibility of the proposed system is understood as the possibility for the present conditions being easily restored.

Private Art Museums:the Intellectual System-based Development

Private art museums have made breakthroughs in creating new ways of system and management mode building.They have played an important role in promoting China's public welfare cultural undertakings. They have embarked on a path of innovation of socialist culture with Chinese characteristics.

New Museums Worldwide to Expect in 2019

" The Shed" in the United States will be completed in 2019. The " Humboldt Forum" in Germany, Qatar National Museum and the Ges-2 Power Station Complex in Russia will open. The year 201 9 is undoubtedly of special significance for the museum community.