Lycium barbarum glycopeptide(wolfberry extract)slows N-methyl-N-nitrosourea-induced degradation of photoreceptors

Photoreceptor cell degeneration leads to blindness, for which there is currently no effective treatment. Our previous studies have shown that Lycium barbarum(L. barbarum) polysaccharide(LBP) protects degenerated photoreceptors in rd1, a transgenic mouse model of retinitis pigmentosa. L. barbarum glycopeptide(Lb GP) is an immunoreactive glycoprotein extracted from LBP. In this study, we investigated the potential protective effect of Lb GP on a chemically induced photoreceptor-degenerative mouse model. Wild-type mice received the following: oral administration of Lb GP as a protective pre-treatment on days 1–7;intraperitoneal administration of 40 mg/kg N-methylN-nitrosourea to induce photoreceptor injury on day 7;and continuation of orally administered Lb GP on days 8–14. Treatment with Lb GP increased photoreceptor survival and improved the structure of photoreceptors, retinal photoresponse, and visual behaviors of mice with photoreceptor degeneration. Lb GP was also found to partially inhibit the activation of microglia in N-methyl-N-nitrosourea-injured retinas and significantly decreased the expression of two pro-inflammatory cytokines. In conclusion, Lb GP effectively slowed the rate of photoreceptor degeneration in N-methyl-N-nitrosourea-injured mice, possibly through an anti-inflammatory mechanism, and has potential as a candidate drug for the clinical treatment of photoreceptor degeneration.

Monogenic features of urolithiasis: A comprehensive review

Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.

The occurrence,inheritance,and segregation of complex genomic structural variation in synthetic Brassica napus

"Synthetic"allopolyploids recreated by interspecific hybridization play an important role in providing novel genomic variation for crop improvement.Such synthetic allopolyploids often undergo rapid genomic structural variation(SV).However,how such SV arises,is inherited and fixed,and how it affects important traits,has rarely been comprehensively and quantitively studied in advanced generation synthetic lines.A better understanding of these processes will aid breeders in knowing how to best utilize synthetic allopolyploids in breeding programs.Here,we analyzed three genetic mapping populations(735 DH lines)derived from crosses between advanced synthetic and conventional Brassica napus(rapeseed)lines,using whole-genome sequencing to determine genome composition.We observed high tolerance of large structural variants,particularly toward the telomeres,and preferential selection for balanced homoeologous exchanges(duplication/deletion events between the A and C genomes resulting in retention of gene/chromosome dosage between homoeologous chromosome pairs),including stable events involving whole chromosomes("pseudoeuploidy").Given the experimental design(all three populations shared a common parent),we were able to observe that parental SV was regularly inherited,showed genetic hitchhiking effects on segregation,and was one of the major factors inducing adjacent novel and larger SV.Surprisingly,novel SV occurred at low frequencies with no significant impacts on observed fertility and yield-related traits in the advanced generation synthetic lines.However,incorporating genome-wide SV in linkage mapping explained significantly more genetic variance for traits.Our results provide a framework for detecting and understanding the occurrence and inheritance of genomic SV in breeding programs,and support the use of synthetic parents as an important source of novel trait variation.

RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review

AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

Facing ethical concerns in the age of precise gene therapy:Outlook on inherited arrhythmias

This editorial,comments on the article by Spartalis et al published in the recent issue of the World Journal of Cardiology.We here provide an outlook on potential ethical concerns related to the future application of gene therapy in the field of inherited arrhythmias.As monogenic diseases with no or few therapeutic options available through standard care,inherited arrhythmias are ideal candidates to gene therapy in their treatment.Patients with inherited arrhythmias typically have a poor quality of life,especially young people engaged in agonistic sports.While genome editing for treatment of inherited arrhythmias still has theoretical application,advances in CRISPR/Cas9 technology now allows the generation of knock-in animal models of the disease.However,clinical translation is somehow expected soon and this make consistent discussing about ethical concerns related to gene editing in inherited arrhythmias.Genomic off-target activity is a known technical issue,but its relationship with ethnical and individual genetical diversity raises concerns about an equitable accessibility.Meanwhile,the costeffectiveness may further limit an equal distribution of gene therapies.The economic burden of gene therapies on healthcare systems is is increasingly recognized as a pressing concern.A growing body of studies are reporting uncertainty in payback periods with intuitive short-term effects for insurance-based healthcare systems,but potential concerns for universal healthcare systems in the long term as well.Altogether,those aspects strongly indicate a need of regulatory entities to manage those issues.

Immune remodulation in pediatric inherited metabolic liver diseases

Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver disorders is diverse,encompassing a range of conditions associated with aberrations in iron,copper,carbohydrate,lipid,protein,and amino acid metabolism.Historically,research in the domain of genetic metabolic liver diseases has predominantly concentrated on hepatic parenchymal cell alterations.Nevertheless,emerging studies suggest that inherited metabolic liver diseases exert significant influences on the immune microenvironment,both within the liver and systemically.This review endeavors to encapsulate the immunological features of genetic metabolic liver diseases,aiming to expand the horizons of researchers in this discipline,and to elucidate the underlying pathophysiological mechanisms pertinent to hereditary metabolic liver diseases and to propose innovative therapeutic approaches.

Protection and Inheritance of the Architectural Cultural Heritage of the Longevity Pagoda in Jingzhou

With the ongoing advancement of human civilization,China is increasingly prioritizing the preservation and transmission of its architectural heritage.This study examines the historical development of the Longevity Pagoda in Jingzhou,synthesizing its architectural and artistic characteristics as well as its cultural heritage value.In light of contemporary challenges,the paper proposes strategies for the protection and preservation of the Longevity Pagoda.The aim is to ensure that the Longevity Pagoda continues to realize its distinctive historical,cultural,and social significance in the future.

Construction of the Demonstration Area for the Inheritance and Development of Yimeng Red Culture Based on Digital Empowerment

Yimeng red culture is an important part of the excellent culture of the Chinese nation.It is of great practical significance and long-term strategic significance to build the demonstration area for the inheritance and development of Yimeng red culture.Combining digital empowerment with the inheritance and development of Yimeng red culture is a new idea that conforms to the development of the times.In this paper,on the basis of combing Yimeng red cultural resources and combining with the current situation of inheritance and development of Yimeng red culture,the strategic layout and implementation approach of the demonstration area for the inheritance and development of Yimeng red culture were put forward from the perspective of digital empowerment.

Utilization and Living Inheritance of Red Tourism Resources in Nanxiong City under the Background of"Baiqianwan Project"

Under the work deployment of"Double Hundred Action",Huizhou Engineering Vocational College,Nanxiong Municipal People's Government and Shaoguan College have formulated a series of plans and projects to promote the local development of Nanxiong through cooperation and in-depth research,which strengthens the role of vocational education in rural revitalization,and promotes the effective use of red tourism resources in Nanxiong City,promoted the development of local tourism and economy,provides new impetus and direction for rural revitalization,and demonstrates the positive prospects and vitality of rural revitalization,as well as the important value and potential of vocational education in rural revitalization.

Hypoparathyroidism with situs inversus totalis:A case report

BACKGROUND Hypoparathyroidism(HP)is a rare endocrine disorder,while situs inversus totalis(SIT)is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions.This case illustrates some potential shared mechanisms between HP and SIT,highlighting the importance of accurate identification and prompt first emergency,offering insights for future research.CASE SUMMARY This report discusses a case of a middle-aged patient with adolescent-onset HP with concurrent SIT.The patient experienced recurrent episodes of increased neuromuscular excitability(manifesting as spasms in the hands and feet and laryngospasms)and even periods of unconsciousness.Initially,these symptoms led to a misdiagnosis of epilepsy.Nevertheless,upon thorough examination and treatment in the general medicine ward,the correct diagnosis was established.Corresponding treatment resulted in improved management of the patient’s symptoms.CONCLUSION Co-occurrence of HP and SIT may be associated with genetic mutations,chromosomal anomalies,or hereditary factors,as may other similar conditions.

非物质文化遗产的标准化研究

Intangible cultural heritage is an important part of human civilization,and its protection and inheritance are of great significance for maintaining the diversity of national culture and the continuity of traditional culture.In order to better protect intangible cultural heritage,many countries have formulated corresponding protection standards and policies.This paper summarizes and studies the current standardization development of intangible cultural heritage protection in various countries,explores its significance,current situation,and development trends,and provides suggestions for the standardization of intangible cultural heritage protection in China.

Protocol of Investigation on Sudden Death at Autopsy, Including Molecular, Genetic and Toxicology Testing

The role of the autopsy: 1) Whether the death is ascribable to a natural or unnatural cause and when natural, if cardiac or extra-cardiac;2) The nosology of the cardiac diseases and the mechanism of cardiac death, whether arrhythmic or mechanical;3) If the cardiac disease is inherited, screening and counselling of the next of kin is required. About 30% of sudden deaths is ascribable to genetically determined morbid entities, mostly transmissible with the autosomal dominant pattern of inheritance, so that 50% of the first degree relatives are genetically affected (“carriers”) and exposed at risk;4) If toxic or illicit drug abuse was involved.

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.

A Theory of Bio-Quantum Genetics

The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large.

Research on the Innovation of Traditional Music Cultural Inheritance

Traditional music is an important source of Chinese civilization and has a profound impact on the origin,enrichment,leap forward,and sublimation of Chinese culture.Starting from the three dimensions of history,people,and integration,it is important to inherit,carry forward,and spread the contemporary value of traditional music culture.We should focus on the inheritance of historical dimension,reposition the unique function of traditional music culture,strengthen the ecological protection of traditional music culture,and advocate excavation protection,purification protection,and promotion protection.Additionally,we focus on the development of the people dimension,adhere to the people-centered creative orientation,grasp the needs of the people,reflect their aspirations,and strive to enhance the timeliness and attraction of national music.We also focus on the communication of integration dimension,leverage the characteristic advantages of emerging media communication,promote the cross-border integration of the traditional music industry and related fields,respond to the focus and interaction of music audience services,and promote the construction of a modern three-dimensional communication system of traditional music.

Inheritance and Innovation of Chinese Filial Piety Culture Restated

Chinese traditional filial piety culture has gained widespread acceptance in contemporary social life and has been inherited and carried forward in a variety of ways instead of fading away with the development of economy and society.Meanwhile,under the background of urbanization,industrialization,and modernization,traditional filial piety also faces many new challenges.This paper puts forward the reflections and countermeasures concerning the inheritance and innovation of filial piety culture in the new era from perspectives of concept connotation,publicity and education,institutional guarantee,funding source,and social organizations.

Exploration of the Inheritance and Innovation Carrier of National Culture in the Teaching Model of Art Design Major in Higher Vocational Colleges:Integrating Lijiang Baisha Murals into Higher Vocational Art Design Curriculum System

This study aims to further promote the inheritance and innovative development of intangible cultural heritage in Yunnan Province,promote the protection,inheritance,integration,and innovation of ethnic culture in Lijiang,strengthen the protection and inheritance of Baisha murals in Lijiang,and change the teaching of art design majors in vocational colleges in Yunnan.Given the lack of traditional Chinese culture and local ethnic culture,this article focuses on the teaching of art design majors in Yunnan vocational colleges.It explores the construction model of the cultural inheritance and innovation carrier of Lijiang Baisha murals to meet the spiritual and cultural needs of the local people,and efforts will be made to promote the high-quality development of the Baisha ethnic area in Lijiang.

Research on the Design of Innovative Play Blind Box Based on AR Digital Technology Empowering Traditional Intangible Cultural Heritage

The development of science and technology,especially the rise of augmented reality(AR)technology provides a new way for the inheritance and innovation of traditional intangible cultural heritage.Based on the design and research of the tide play blind box of AR digital technology empowering traditional intangible cultural heritage,this paper discusses the application and feasibility of AR technology in the traditional intangible cultural heritage,analyzes the strategy of implementing AR technology empowering intangible cultural heritage,and puts forward corresponding countermeasures for the challenges that may be faced,aiming at providing new ideas and methods for traditional intangible cultural heritage and modern science and technology.

Analysis of the Innovation of Zhuang Medical Culture from the Perspective of a Comprehensive Well-Off Society: Insights from Social Research and Public Engagement

Based on the inheritance and development of Zhuang medicine culture from the perspective of a comprehensive well-off society,traditional Chinese medicine is a treasure of Chinese civilization.The inheritance,innovation,and development of traditional Chinese medicine are crucial to the cause of socialism with Chinese characteristics in the new era.By engaging young people,reducing the aging of the medical team,and understanding the views and suggestions of various groups on Zhuang medicine culture,questionnaire surveys,field interviews,literature searches,and other methods were employed to gather and analyze public opinions and suggestions on Zhuang medicine.Additionally,online consultations were conducted to assess the popularity of Zhuang medicine and identify existing problems.Based on these findings,recommendations and strategies for improvement were formulated.Furthermore,the design of an online consultation app is proposed to enhance the role and effectiveness of Zhuang medicine’s inheritance and development.

The Correlation between Corporate Social Responsibility(CSR)and Chinese Family Enterprises in China

It is imperative to aggressively advocate for and transmit the ideas of corporate social responsibility as Chinese family enterprises transition into the phase of corporate inheritance.This study conducts a thorough examination of existing literature to elucidate the concept and model of western corporate social responsibility.It also analyses the current state of Chinese corporate social responsibility and highlights the fulfilment of corporate social responsibility by private enterprises.Furthermore,it specifically investigates the significance of family enterprises in promoting and preserving the culture of corporate responsibility.Lastly,it delves into the correlation between corporate social responsibility and family enterprises.This study presents the process of transmission and inheritance of Chinese family firms,focusing on the influence of Chinese traditional culture,the original purpose of enterprise development,and enterprise image.