Search results for: inheritance

Authors: Tianjie Zhang, Bingqian Cheng, Peng Zeng

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Engineering science and technology progress and innovation have become an important engine to promote social development. The reform exploration of "new engineering" in China has drawn extensive attention around the world, with its connotation as "to cultivate future diversified, innovative and outstanding engineering talents by taking ‘fostering character and civic virtue’ as the guide, responding to changes and shaping the future as the construction concept, and inheritance and innovation, crossover and fusion, coordination and sharing as the principal approach". In this context, Tianjin University, as a traditional Chinese university with advantages in engineering, further launched the CCII (Coherent-Collaborative-Interdisciplinary-Innovation) program, raising the cultivation idea of integrating new liberal arts education, multidisciplinary engineering education and personalized professional education. As urban planning practice in China has undergone the evolution of "physical planning -- comprehensive strategic planning -- resource management-oriented planning", planning education has also experienced the transmutation process of "building foundation -- urban scientific foundation -- multi-disciplinary integration". As a characteristic and advantageous discipline of Tianjin University, the major of Urban and Rural Planning, in accordance with the "CCII Program of Tianjin University", aims to build China's top and world-class major, and implements the following educational reform measures: 1. Adding corresponding English courses, such as advanced course on GIS Analysis, courses on comparative studies in international planning involving ecological resources and the sociology of the humanities, etc. 2. Holding "Academician Forum", inviting international academicians to give lectures or seminars to track international frontier scientific research issues. 3. Organizing "International Joint Workshop" to provide students with international exchange and design practice platform. 4. Setting up a business practice base, so that students can find problems from practice and solve them in an innovative way. Through these measures, the Urban and Rural Planning major of Tianjin University has formed a talent training system with multi-disciplinary cross integration and orienting to the future science and technology.

Keywords: China, higher education reform, innovation, new engineering education, rural and urban planning, Tianjin University

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Authors: Mirjana Dokmanovic

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In recent years, the disadvantaged and marginalised position of rural women in the Republic of Serbia has been recognised in a number of national strategies and policy papers. A number of measures have been adopted by the government aimed at economic empowerment of rural women and eliminating barriers to accessing decision making and economic and social opportunities. However, their implementation pace is still slow. The aim of the paper is to indicate the necessity of a comprehensive policy approach to eliminating discrimination against rural women that would include policy and financial commitments for enhancing agricultural and rural development as a whole, instead of taking fragmented measures targeting consequences instead of causes. The paper introduces main findings of the study of challenges, constraints, and opportunities of rural women in Serbia to enjoy their economic and social rights. The research methodology included the desk research and the qualitative analysis of the available data, statistics, policy papers, studies, and reports produced by the government, ministries and other governmental bodies, independent human rights bodies, and civil society organizations (CSOs). The findings of the study reveal that rural women are at great risk of poverty, particularly in remote areas, and when getting old or widowed. Young rural women working in agriculture are also in unfavorable position, as they do not have opportunities to enjoy their rights during pregnancy and maternity leave, childcare leave and leave due to the special care of a child. The study indicates that the main causes of their unfavorable position are related to the prevalent patriarchal surrounding and economic and social underdevelopment of rural areas in Serbia. Gender inequalities have been particularly present in accessing land and property rights, inheritance, education, social protection, healthcare, and decision making. Women living in the rural areas are exposed at high risk of discrimination in all spheres of public and private life that undermine their enjoyment of basic economic, social and cultural rights. The vulnerability of rural women to discrimination increases in cases of the intersectionality of other grounds of discrimination, such as disability, ethnicity, age, health condition and sexual discrimination. If they are victims of domestic violence, their experience lack of access to shelters and protection services. Despite the State’s recognition of the marginalized position of rural women, there is still a lack of a comprehensive policy approach to improving the economic and social position of rural women.

Keywords: agricultural and rural development, care economy, discrimination against women, economic and social rights, feminization of poverty, Republic of Serbia, rural women

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Authors: Jun Ren, Zhen-Hua Ming, He-Feng Huang, Jian-Zhong Sheng

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Adverse intrauterine stimulus during critical or sensitive periods in early life, may lead to health risk not only in later life span, but also further generations. Intrauterine hyperglycaemia, as a major feature of gestational diabetes mellitus (GDM), is a typical adverse environment for both F1 fetus and F1 gamete cells development. However, there is scare information of phenotypic difference of metabolic memory between somatic cells and germ cells exposed by intrauterine hyperglycaemia. The direct transmission effect of intrauterine hyperglycaemia per se has not been assessed either. In this study, we built a GDM mice model and selected male GDM offspring without pre-diabetic phenotype as our founders, to exclude postnatal diabetic influence on gametes, thereby investigate the direct transmission effect of intrauterine hyperglycaemia exposure on F2 offspring, and we further compared the metabolic difference of affected F1-GDM male offspring and F2 offspring. A GDM mouse model of intrauterine hyperglycemia was established by intraperitoneal injection of streptozotocin after pregnancy. Pups of GDM mother were fostered by normal control mothers. All the mice were fed with standard food. Male GDM offspring without metabolic dysfunction phenotype were crossed with normal female mice to obtain F2 offspring. Body weight, glucose tolerance test, insulin tolerance test and homeostasis model of insulin resistance (HOMA-IR) index were measured in both generations at 8 week of age. Some of F1-GDM male mice showed impaired glucose tolerance (p < 0.001), none of F1-GDM male mice showed impaired insulin sensitivity. Body weight of F1-GDM mice showed no significance with control mice. Some of F2-GDM offspring exhibited impaired glucose tolerance (p < 0.001), all the F2-GDM offspring exhibited higher HOMA-IR index (p < 0.01 of normal glucose tolerance individuals vs. control, p < 0.05 of glucose intolerance individuals vs. control). All the F2-GDM offspring exhibited higher ITT curve than control (p < 0.001 of normal glucose tolerance individuals, p < 0.05 of glucose intolerance individuals, vs. control). F2-GDM offspring had higher body weight than control mice (p < 0.001 of normal glucose tolerance individuals, p < 0.001 of glucose intolerance individuals, vs. control). While glucose intolerance is the only phenotype that F1-GDM male mice may exhibit, F2 male generation of healthy F1-GDM father showed insulin resistance, increased body weight and/or impaired glucose tolerance. These findings imply that intrauterine hyperglycaemia exposure affects germ cells and somatic cells differently, thus F1 and F2 offspring demonstrated distinct metabolic dysfunction phenotypes. And intrauterine hyperglycaemia exposure per se has a strong influence on F2 generation, independent of postnatal metabolic dysfunction exposure.

Keywords: inheritance, insulin resistance, intrauterine hyperglycaemia, offspring

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Authors: Lou Gargouri

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This paper examines how Fanny Cabon's solo performance, Gardiennes (2018) strategically crafts empathetic witnessing through the artist's vocal and physical embodiment of her female ancestors' testimonies, dramatizing the cyclical inheritance of reproductive trauma across generations. Drawing on affect theory and the concept of ethical co-presence, we argue that Cabon's raw voicing of illegal abortions, miscarriages, and abuse through her shape-shifting presence generates an intimate energy loop with the audience. This affective resonance catalyzes recognition of historical injustices, consecrating each singular experience while building collective solidarity. Central to Cabon's political efficacy is her transparent self-revelation through intimate impersonation, which fosters identification with diverse characters as interconnected subjects rather than objectified others. Her solo form transforms the isolation often associated with women's marginalization into radical inclusion, repositioning them from victims to empowered survivors. Comparative analysis with other contemporary works addressing abortion rights illuminates how Gardiennes subverts the traditional medical and clerical gazes that have long governed women's bodies. Ultimately, we contend Gardiennes models the potential of solo performance to harness empathy as a subversive political force. Cabon's theatrical alchemy circulates the effects of injustice through the ethical co-presence of performer and spectator, forging intersubjective connections that reframe marginalized groups traditionally objectified within dominant structures of patriarchal power. In dramatizing how the act of witnessing another's trauma can generate solidarity and galvanize resistance, Cabon's work demonstrates the role of embodied performance in catalyzing social change through the recuperation of women's voices and lived experiences. This paper thus aims to contribute to the emerging field of feminist solo performance criticism by illuminating how Cabon's innovative dramaturgy bridges the personal and the political. Her strategic mobilization of intimacy, identification, and co-presence offers a model for how the affective dynamics of autobiographical performance can be harnessed to confront gendered oppression and imagine more equitable futures. Gardiennes invites us to consider how the circulation of empathy through ethical spectatorship can foster the collective alliances necessary for advancing the unfinished project of women's liberation.

Keywords: gender and sexuality studies, solo performance, trauma studies, affect theory

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Authors: Miguel Angel Calvo Salve

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This qualitative and quantitative study will identify the impact of tourism pressure on the intangible cultural heritage of the pilgrim route of El Camino de Santiago (Saint James Way) and propose an approach to a sustainable touristic model for these Cultural Routes. Since 1993, the Spanish Section of the Pilgrim Route of El Camino de Santiago has been on the World Heritage List. In 1994, the International Committee on Cultural Routes (CIIC-ICOMOS) initiated its work with the goal of studying, preserving, and promoting the cultural routes and their significance as a whole. Another ICOMOS group, the Charter on Cultural Routes, pointed out in 2008 the importance of both tangible and intangible heritage and the need for a holistic vision in preserving these important cultural assets. Tangible elements provide a physical confirmation of the existence of these cultural routes, while the intangible elements serve to give sense and meaning to it as a whole. Intangible assets of a Cultural Route are key to understanding the route's significance and its associated heritage values. Like many pilgrim routes, the Route to Santiago, as the result of a long evolutionary process, exhibits and is supported by intangible assets, including hospitality, cultural and religious expressions, music, literature, and artisanal trade, among others. A large increase in pilgrims walking the route, with very different aims and tourism pressure, has shown how the dynamic links between the intangible cultural heritage and the local inhabitants along El Camino are fragile and vulnerable. Economic benefits for the communities and population along the cultural routes are commonly fundamental for the micro-economies of the people living there, substituting traditional productive activities, which, in fact, modifies and has an impact on the surrounding environment and the route itself. Consumption of heritage is one of the major issues of sustainable preservation promoted with the intention of revitalizing those sites and places. The adaptation of local communities to new conditions aimed at preserving and protecting existing heritage has had a significant impact on immaterial inheritance. Based on questionnaires to pilgrims, tourists and local communities along El Camino during the peak season of the year, and using official statistics from the Galician Pilgrim’s Office, this study will identify the risk and threats to El Camino de Santiago as a Cultural Route. The threats visible nowadays due to the impact of mass tourism include transformations of tangible heritage, consumerism of the intangible, changes of local activities, loss in the authenticity of symbols and spiritual significance, and pilgrimage transformed into a tourism ‘product’, among others. The study will also approach some measures and solutions to mitigate those impacts and better preserve this type of cultural heritage. Therefore, this study will help the Route services providers and policymakers to better preserve the Cultural Route as a whole to ultimately improve the satisfying experience of pilgrims.

Keywords: cultural routes, El Camino de Santiago, impact of tourism, intangible heritage

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Authors: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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Authors: Zo Hasina Rabemananjara

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The North-East of Madagascar is the pillar of Madagascar's foreign trade, providing 41% and 80% of world exports of cloves and vanilla, respectively, in 2016. For Madagascar, the north-eastern escarpment is home to the last massifs of humid forest in large scale of the island, surrounded by a small scale agricultural mosaic. In the sites where this study is taking place, located in the peripheral zones of protected areas, the production of rent aims to supply international markets. In fact, importers of the cash crops produced in these areas are located mainly in India, Singapore, France, Germany and the United States. Recently, the price of these products has increased significantly, especially from the year 2015. For vanilla, the price has skyrocketed, from an approximate price of 73 USD per kilo in 2015 to more than 250 USD per kilo in 2016. The value of clove exports increased sharply by 49.4% in 2017, largely to Singapore and India due to the sharp increase in exported volume (+47, 6%) in 2017. If the relationship between the rise in prices of rented products and the change in physical environments is known, the evolution of the behavior of land users linked to this aspect was not yet addressed by research. In fact, the consequence of this price increase in the organization of the use of space at the local level still raises questions. Hence, the research question is: to what extent does this improvement in the price of imported products affect user behavior linked to the local organization of access to the factor of soil production? To fully appreciate this change in behavior, surveys of 144 land user households were carried out, and group interviews were also carried out. The results of this research showed that the rise in the prices of annuity products from the year 2015 caused significant changes in the behavior of land users in the study sites. Young people, who have not been attracted to farming for a long time, have started to show interest in it since the period of rising vanilla and clove prices. They have set up their own fields of vanilla and clove cultivation. This revival of interest conferred an important value on the land and caused conflicts especially between family members because the acquisition of the cultivated land was done by inheritance or donation. This change in user behavior has also affected the farmers' life strategy since the latter have decided to abandon rain-fed rice farming, which has long been considered a guaranteed subsistence activity for cash crops. This research will contribute to nourishing scientific reflection on the management of land use and also to support political decision-makers in decision-making on spatial planning.

Keywords: behavior of land users, North-eastern Madagascar, price of export products, spatial planning

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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Authors: Yu Zhang, Jie Wu, Li Dong

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Rural tourism is the service industry which regards the agricultural production, rural life, rural nature and cultural landscape as the tourist attraction. It aims to meet the needs of the city tourists such as country sightseeing, vacation, and leisure. According to the difference of the tourist resources, the rural settlements can be divided into different types: The type of tourism resources, scenic spot, and peri-urban. In the past ten years, the rural tourism has promoted the industrial transformation and economic growth in rural areas of China. And it is conducive to the coordinated development of urban and rural areas and has greatly improved the ecological environment and the standard of living for farmers in rural areas. At the same time, a large number of buildings and sites are built in the countryside in order to enhance the tourist attraction and the ability of tourist reception and also to increase the travel comfort and convenience, which has significant influence on the spatial evolution of the village settlement. This article takes the XiangYing Subdistrict, which is in JinPu District of Dalian in China as the exemplification and uses the technology of Remote Sensing (RS), Geographic Information System (GIS) and the technology of Landscape Spatial Analysis to study the influence of the rural tourism development in the rural settlement spaces in four steps. First, acquiring the remote sensing image data at different times of 8 administrative villages in the XiangYing Subdistrict, by using the remote sensing application EDRAS8.6; second, vectoring basic maps of XiangYing Subdistrict including its land-use map with the application of ArcGIS 9.3, associating with social and economic attribute data of rural settlements and analyzing on the rural evolution visually; third, quantifying the comparison of these patches in rural settlements by using the landscape spatial calculation application Fragstats 3.3 and analyzing on the evolution of the spatial structure of settlement in macro and medium scale; finally, summarizing the evolution characteristics and internal reasons of tourism-oriented rural settlements. The main findings of this article include: first of all, there is difference in the evolution of the spatial structure between the developing rural settlements and undeveloped rural settlements among the eight administrative villages; secondly, the villages relying on the surrounding tourist attractions, the villages developing agricultural ecological garden and the villages with natural or historical and cultural resources have different laws of development; then, the rural settlements whose tourism development in germination period, development period and mature period have different characteristics of spatial evolution; finally, the different evolution modes of the tourism-oriented rural settlement space have different influences on the protection and inheritance of the village scene. The development of tourism has a significant impact on the spatial evolution of rural settlement. The intensive use of rural land and natural resources is the fundamental principle to protect the rural cultural landscape and ecological environment as well as the critical way to improve the attraction of rural tourism and promote the sustainable development of countryside.

Keywords: landscape pattern, rural settlement, spatial evolution, tourism-oriented, Xiangying Subdistrict

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Authors: Jihong Liang, Huiling Feng, Linqing Ma, Tianjiao Qi

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Confucius is the first sage in Chinese culture. Confucianism, the theories represented by Confucius, has long been at the core of Chinese traditional society, as the dominating political ideology of centralized feudal monarchy for more than two thousand years. Confucius Worship Ceremony held in the Confucian Temple in Qufu (Confucius’s birthplace), which is dedicated to commemorate Confucius and other 170 elites in Confucianism with a whole set of formal rites, pertains to “Auspicious Rites”, which worship heaven and earth, humans and ghosts. It was first a medium-scaled ritual activity but then upgraded to the supreme one at national level in the Qing Dynasty. As a national event, it was celebrated by Emperor as well as common intellectuals in traditional China. The Ceremony can be solemn and respectful, with prescribed and complicated procedures, well-prepared utensil and matched offerings operated in rhythm with music and dances. Each participant has his place, and everyone follows the specified rules. This magnificent ritual Ceremony, while embedded with rich culture connotation, actually symbolizes the social acknowledgment for orthodox culture represented by Confucianism. Rites reflected in this Ceremony, is one of the most important features of Chinese culture, serving as the key bond in the identification and continuation of Chinese culture. These rites and ritual ceremonies, as culture memories themselves, are not only treasures of China, but of the whole world. However, while the ancient Chinese Rite has been one of the thorniest and most complicated topics for academics, the more regrettable is that due to their interruption in practice and historical changes, these rites and ritual ceremonies have already become a vague language in today’s academic discourse and strange terms of the past for common people. Luckily, we, today, by virtue of modern digital technology, may be able to reproduce these ritual ceremonies, as most of them can still be found in ancient manuscripts, through which Chinese ancestors tell the beauty and gravity of their dignified rites and more importantly, their spiritual pursuits with vivid language and lively pictures. This research, based on review and interpretation of the ancient literature, intends to construct the ancient ritual ceremonies, with the Confucius Worship Ceremony as a case and by use of digital technology. Using 3D technology, the spatial scenes in the Confucian Temple can be reconstructed by virtual reality; the memorial tablet exhibited in the temple by GIS and different rites in the ceremonies by animation technology. With reference to the lyrics, melodies and lively pictures recorded in ancient scripts, it is also possible to reproduce the live dancing site. Also, image rendering technology can help to show the life experience and accomplishments of Confucius. Finally, lining up all the elements in a multimedia narrative form, a complete digitalized Confucius Worship Ceremony can be reproduced, which will provide an excellent virtual experience that goes beyond time and space by bringing its audience back to that specific historical time. This digital project, once completed, will play an important role in the inheritance and dissemination of cultural heritage.

Keywords: Confucius worship ceremony, multimedia narrative form, GIS, visual representation

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Authors: L. Salomon, P. Sklenar

Abstract:

The Andes hold the highest plant species diversity in the world. How this occurred is one of the most intriguing questions in studies addressing the origin and patterning of plant diversity worldwide. Recently, the explosive adaptive radiations found in high Andean groups have been pointed as triggers to this spectacular diversity. The Andes is the species-richest area for the biggest genus from the Asteraceae family: Senecio. There, the genus presents an incredible diversity of species, striking growth form variation, and large niche span. Even when some studies tried to disentangle the evolutionary story for some Andean species in Senecio, they obtained partially resolved and low supported phylogenies, as expected for recently radiated groups. The high-throughput sequencing (HTS) approaches have proved to be a powerful tool answering phylogenetic questions in those groups whose evolutionary stories are recent and traditional techniques like Sanger sequencing are not informative enough. Although these tools have been used to understand the evolution of an increasing number of Andean groups, nowadays, their scope has not been applied for Senecio. This project aims to contribute to a better knowledge of the mechanisms shaping the hyper diversity of Senecio in the Andean region, using HTS focusing on Senecio ser. Culcitium (Asteraceae), recently recircumscribed. Firstly, reconstructing a highly resolved and supported phylogeny, and after assessing the role of allopatric differentiation, hybridization, and genome duplication in the diversification of the group. Using the Hyb-Seq approach, combining target enrichment using Asteraceae COS loci baits and genome skimming, more than 100 new accessions were generated. HybPhyloMaker and HybPiper pipelines were used for the phylogenetic analyses, and another pipeline in development (Paralogue Wizard) was used to deal with paralogues. RAxML was used to generate gene trees and Astral for species tree reconstruction. Phyparts were used to explore as first step of gene tree discordance along the clades. Fully resolved with moderated supported trees were obtained, showing Senecio ser. Culcitium as monophyletic. Within the group, some species formed well-supported clades with morphologically related species, while some species would not have exclusive ancestry, in concordance with previous studies using amplified fragment length polymorphism (AFLP) showing geographical differentiation. Discordance between gene trees was detected. Paralogues were detected for many loci, indicating possible genome duplications; ploidy level estimation using flow cytometry will be carried out during the next months in order to identify the role of this process in the diversification of the group. Likewise, TreeSetViz package for Mesquite, hierarchical likelihood ratio congruence test using Concaterpillar, and Procrustean Approach to Cophylogeny (PACo), will be used to evaluate the congruence among different inheritance patterns. In order to evaluate the influence of hybridization and Incomplete Lineage Sorting (ILS) in each resultant clade from the phylogeny, Joly et al.'s 2009 method in a coalescent scenario and Paterson’s D-statistic will be performed. Even when the main discordance sources between gene trees were not explored in detail yet, the data show that at least to some degree, processes such as genome duplication, hybridization, and/or ILS could be involved in the evolution of the group.

Keywords: adaptive radiations, Andes, genome duplication, hybridization, Senecio

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Authors: Kakali Roy, Sahana P. Raju, Subhra Dhar, Sandipan Dhar

Abstract:

Introduction: Xeroderma pigmentosa (XP) is a rare inherited (autosomal recessive) disease resulting from impairment in DNA repair that involves recognition and repair of ultraviolet radiation (UVR) induced DNA damage in the nucleotide excision repair pathway. Which results in increased photosensitivity, UVR induced damage to skin and eye, increased susceptibility of skin and ocular cancer, and progressive neurodegeneration in some patients. XP is present worldwide, with higher incidence in areas having frequent consanguinity. Being extremely rare, there is limited literature on XP and associated complications. Here, the clinico-pathological experience (spectrum of clinical presentation, histopathological findings of malignant skin lesions, and progression) of managing 8 cases of XP is presented. Methodology: A retrospective study was conducted in a pediatric tertiary care hospital in eastern India during a ten-year period from 2013 to 2022. A clinical diagnosis was made based on severe sun burn or premature photo-aging and/or onset of cutaneous malignancies at early age (1st decade) in background of consanguinity and autosomal recessive inheritance pattern in family. Results: The mean age of presentation was 1.2 years (range of 7month-3years), while three children presented during their infancy. Male to female ratio was 5:3, and all were born of consanguineous marriage. They presented with dermatological manifestations (100%) followed by ophthalmic (75%) and/or neurological symptoms (25%). Patients had normal skin at birth but soon developed extreme sensitivity to UVR in the form of exaggerated sun tanning, burning, and blistering on minimal sun exposure, followed by abnormal skin pigmentation like freckles and lentiginosis. Subsequently, over time there was progressive xerosis, atrophy, wrinkling, and poikiloderma. Six patients had varied degree of ocular involvement, while three of them had severe manifestation, including madarosis, tylosis, ectropion, Lagopthalmos, Pthysis bulbi, clouding and scarring of the cornea with complete or partial loss of vision, and ophthalmic malignancies. 50% (n=4) cases had skin and ocular pre-malignant (actinic keratosis) and malignant lesions, including melanoma and non melanoma skin cancer (NMSC) like squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) in their early childhood. One patient had simultaneous occurrence of multiple malignancies together (SCC, BCC, and melanoma). Subnormal intelligence was noticed as neurological feature, and none had sensory neural hearing loss, microcephaly, neuroregression, or neurdeficit. All the patients had been being managed by a multidisciplinary team of pediatricians, dermatologists, ophthalmologists, neurologists and psychiatrists. Conclusion: Although till date there is no complete cure for XP and the disease is ultimately fatal. But increased awareness, early diagnosis followed by persistent vigorous protection from UVR, and regular screening for early detection of malignancies along with psychological support can drastically improve patients’ quality of life and life expectancy. Further research is required on formulating optimal management of XP, specifically the role and possibilities of gene therapy in XP.

Keywords: childhood malignancies, dermato-pathological findings, eastern India, Xeroderma pigmentosa

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Authors: Gagandeep Singh Digra, Pawan Kumar, Mandeep Kaur Sidhu

Abstract:

INTRODUCTION: Chronic Progressive External Ophthalmoplegia (CPEO), also known as Progressive External Ophthalmoplegia (PEO), is a type of eye disorder characterized by a loss of the muscle functions involved in eye and eyelid movement. CPEO can be caused by mutations in mitochondrial DNA. It typically manifests in young adults with bilateral and progressive ptosis as the most common presentation but can also present with difficulty swallowing (dysphagia) and general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. CASE PRESENTATION: This is a case discussion of 3 cousins who presented to our clinic. A 23-year-old male with past surgical history (PSH) of ptosis repair 2 years ago presented with a chief complaint of nasal intonation for 1.5 years associated with difficulty swallowing. The patient also complained of nasal regurgitation of liquids. He denied any headaches, fever, seizures, weakness of arms or legs, urinary complaints or changes in bowel habits. Physical Examination was positive for facial muscle weakness, including an inability to lift eyebrows (Frontalis), inability to close eyes tightly (Orbicularis Oculi), corneal reflex absent bilaterally, difficulty clenching jaw (Masseter muscle), difficulty smiling (Zygomaticus major), inability to elevate upper lip (Zygomaticus minor). Another cousin of the first patient, a 25-year-old male with no past medical history, presented with complaints of nasal intonation for 2 years associated with difficulty swallowing. He denied a history of nasal regurgitation, headaches, fever, seizures, weakness, urinary complaints or changes in bowel habits. Physical Examination showed facial muscle weakness of the Frontalis muscle, Orbicularis Oculi muscle, Masseter Muscle, Zygomaticus Major, Zygomaticus Minor and absent corneal reflexes. A 28-year-old male, a cousin of the first two patients, presented with chief complaints of ptosis and nasal intonation for the last 8 years. He also complained of difficulty swallowing and nasal regurgitation of liquids. His physical examination showed facial muscle weakness, including frontalis muscle (inability to lift eyebrows), Orbicularis Oculi (inability to close eyes tightly), absent corneal reflexes bilaterally, Zygomaticus Major (difficulty smiling), and Zygomaticus Minor (inability to elevate upper lip). MRI brain and visual field of all the patients were normal. Differential diagnoses, including Grave’s disease, Myasthenia Gravis and Glioma, were ruled out. Due to financial reasons, muscle biopsy could not be pursued. Pedigree analysis revealed only males were affected, likely due to maternal inheritance, so the clinical diagnosis of CPEO was made. The patients underwent symptomatic management, including ptosis surgical correction for the third patient. CONCLUSION: Chronic Progressive External Ophthalmoplegia (CPEO), a rare case entity, occurs in young adults as a manifestation of mitochondrial myopathy. There are three modes of transmission- maternal transmission associated with mitochondrial point mutations, autosomal recessive, and autosomal dominant. CPEO can sometimes be difficult to diagnose, especially in asymmetric presentation. Therefore, it is crucial to keep it in differential diagnosis to avoid delay in diagnosis.

Keywords: neurology, chronic, progressive, ophthalmoplegia

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Authors: H. M. El-Askary, S. A. Abd El-Mawla, M. Allali, M. M. El-Hattab, M. El-Raey, A. M. Farahat, M. Kafatos, S. Nickovic, S. K. Park, A. K. Prasad, C. Rakovski, W. Sprigg, D. Struppa, A. Vukovic

Abstract:

A clear distinction between weather and climate is a necessity because while they are closely related, there are still important differences. Climate change is identified when we compute the statistics of the observed changes in weather over space and time. In this work we will show how the changing climate contribute to the frequency, magnitude and extent of different extreme events using a multi sensor approach with some synergistic modeling activities. We are exploring satellite observations of dust over North Africa, Gulf Region and the Indo Gangetic basin as well as dust versus anthropogenic pollution events over the Delta region in Egypt and Seoul through remote sensing and utilize the behavior of the dust and haze on the aerosol optical properties. Dust impact on the retreat of the glaciers in the Himalayas is also presented. In this study we also focus on the identification and monitoring of a massive dust plume that blew off the western coast of Africa towards the Atlantic on October 8th, 2012 right before the development of Hurricane Sandy. There is evidence that dust aerosols played a non-trivial role in the cyclogenesis process of Sandy. Moreover, a special dust event "An American Haboob" in Arizona is discussed as it was predicted hours in advance because of the great improvement we have in numerical, land–atmosphere modeling, computing power and remote sensing of dust events. Therefore we performed a full numerical simulation to that event using the coupled atmospheric-dust model NMME–DREAM after generating a mask of the potentially dust productive regions using land cover and vegetation data obtained from satellites. Climate change also contributes to the deterioration of different marine habitats. In that regard we are also presenting some work dealing with change detection analysis of Marine Habitats over the city of Hurghada, Red Sea, Egypt. The motivation for this work came from the fact that coral reefs at Hurghada have undergone significant decline. They are damaged, displaced, polluted, stepped on, and blasted off, in addition to the effects of climate change on the reefs. One of the most pressing issues affecting reef health is mass coral bleaching that result from an interaction between human activities and climatic changes. Over another location, namely California, we have observed that it exhibits highly-variable amounts of precipitation across many timescales, from the hourly to the climate timescale. Frequently, heavy precipitation occurs, causing damage to property and life (floods, landslides, etc.). These extreme events, variability, and the lack of good, medium to long-range predictability of precipitation are already a challenge to those who manage wetlands, coastal infrastructure, agriculture and fresh water supply. Adding on to the current challenges for long-range planning is climate change issue. It is known that La Niña and El Niño affect precipitation patterns, which in turn are entwined with global climate patterns. We have studied ENSO impact on precipitation variability over different climate divisions in California. On the other hand the Nile Delta has experienced lately an increase in the underground water table as well as water logging, bogging and soil salinization. Those impacts would pose a major threat to the Delta region inheritance and existing communities. There has been an undergoing effort to address those vulnerabilities by looking into many adaptation strategies.

Keywords: remote sensing, modeling, long range transport, dust storms, North Africa, Gulf Region, India, California, climate extremes, sea level rise, coral reefs

Procedia PDF Downloads 456