Search results for: genetic counseling
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1861

Search results for: genetic counseling

391 The Comparison of Parental Childrearing Styles and Anxiety in Children with Stuttering and Normal Population

Authors: Pegah Farokhzad

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Family has a crucial role in maintaining the physical, social and mental health of the children. Most of the mental and anxiety problems of children reflects the complex interpersonal situations among family members, especially parents. In other words, anxiety problems of the children is correlated with deficit relationships of family members and improper child rearing styles. The parental child rearing styles leads to positive and negative consequences which affect the children’s mental health. Therefore, the present research was aimed to compare the parental child rearing styles and anxiety of children with stuttering and normal population. It was also aimed to study the relationship between parental child rearing styles and anxiety of children. The research sample included 54 boys with stuttering and 54 normal boys who were selected from the children (boys) of Tehran, Iran in the age range of 5 to 8 years in 2013. In order to collect data, Baumrind Child rearing Styles Inventory and Spence Parental Anxiety Inventory were used. Appropriate descriptive statistical methods and multivariate variance analysis and t test for independent groups were used to test the study hypotheses. Statistical data analyses demonstrated that there was a significant difference between stuttering boys and normal boys in anxiety (t = 7.601, p< 0.01); But there was no significant difference between stuttering boys and normal boys in parental child rearing styles (F = 0.129). There was also not found significant relationship between parental child rearing styles and children anxiety (F = 0.135, p< 0.05). It can be concluded that the influential factors of children’s society are parents, school, teachers, peers and media. So, parental child rearing styles are not the only influential factors on anxiety of children, and other factors including genetic, environment and child experiences are effective in anxiety as well. Details are discussed.

Keywords: child rearing styles, anxiety, stuttering, Iran

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390 Interaction of GCN5L1 with WHAMM and KIF5B Regulates Autolysosome Tubulation

Authors: Allen Seylani

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Lysosome-dependent autophagy is a nutrient-deprivation-induced evolutionarily conserved intracellular recycling program that sequestrates intracellular cargo into autophagosomes (AP), which then fuse with lysosomes to form autolysosomes (ALs) for cargo digestion. To restore free lysosomes, autophagic lysosome reformation (ALR) is initiated by extrusion of tubular structures from autolysosomes at the final stage of autophagy, in a process called lysosomal tubulation (LT). This project aimed to investigate the molecular mechanism of GCN5L1 in LT and the following lysosomal signaling. GCN5L1 belongs to the BORC multiprotein complexes and is involved in controlling lysosomal trafficking; however, the effect of GCN5L1 on lysosome tubulation remains largely unknown. Genetic ablation of GCN5L1 in the mouse primary hepatocytes showed dramatically increased autolysosomes (ALs), decreased lysosome regeneration and absence of lysosomal tubulation. This phenotype suggests the possibility of disruption in lysosome tubulation, which results in the disturbance of the overall lysosome homeostasis. The formation of tubulars from ALs requires kinesin motor protein KIF5B. Immunoprecipitation was employed and confirmed the interaction of GCN5L1 with the ARL8B-KIF5B complex, which recruited KIF5B to ALs. At the same time, GCN5L1 interacted with WHAMM, which promotes the actin nucleation factor, which brings actin cytoskeleton to ALs and initiates LT. Furthermore, impaired LT in GCN5L1 deficient hepatocytes was restored by overexpression of GCN5L1, and this rescue effect was attenuated by knockdown of KIF5B. Additionally, lysosomal mTORC1 activity was upregulated in GCN5L1-/- hepatocytes, while inhibition of mTORC1 abrogated the GCN5L1 mediated rescue of LT in knockout hepatocytes. Altogether these findings revealed a novel mechanism of ALR, in which a simultaneous interaction of GCN5L1 with KIF5B and WHAMM is required for LT and downstream mTORC1 signaling.

Keywords: autophagy, autolysosome, GCN5L1, lysosome

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389 Biochemical and Pomological Variability among 14 Moroccan and Foreign Cultivars of Prunus dulcis

Authors: H. Hanine, H. H'ssaini, M. Ibno Alaoui, A. Nablousi, H. Zahir, S. Ennahli, H. Latrache, H. Zine Abidine

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Biochemical and pomological variability among 14 cultivars of Prunus dulcis planted in a germoplasm collection site in Morocco were evaluated. Almond samples from six local and eight foreign cultivars (France, Italy, Spain, and USA) were characterized. Biochemical and pomological data revealed significant genetic variability among the 14 cultivars; local cultivars exhibited higher total polyphenol content. Oil content ranged from 35 to 57% among cultivars; both Texas and Toundout genotypes recorded the highest oil content. Total protein concentration from select cultivars ranged from 50 mg/g in Ferraduel to 105 mg/g in Rizlane1 cultivars. Antioxidant activity of almond samples was examined by a DPPH (1,1-diphenyl-2-picrylhydrazyl) radical-scavenging assay; the antioxidant activity varied significantly within the cultivars, with IC50 (the half-maximal inhibitory concentration) values ranging from 2.25 to 20 mg/ml. Autochthonous cultivars originated from the Oujda region exhibited higher tegument total polyphenol and amino acid content compared to others. The genotype Rizlane2 recorded the highest flavonoid content. Pomological traits revealed a large variability within the almond germplasms. The hierarchical clustering analysis of all the data regarding pomological traits distinguished two groups with some particular genotypes as distinct cultivars, and groups of cultivars as polyclone varieties. These results strongly exhibit a potential use of Moroccan-originated almonds as potential clones for future selection due to their nutritional values and pomological traits compared to well-established cultivars.

Keywords: antioxidant activity, DDPH, Moroccan almonds, Prunus dulcis

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388 Electrochemical APEX for Genotyping MYH7 Gene: A Low Cost Strategy for Minisequencing of Disease Causing Mutations

Authors: Ahmed M. Debela, Mayreli Ortiz , Ciara K. O´Sullivan

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The completion of the human genome Project (HGP) has paved the way for mapping the diversity in the overall genome sequence which helps to understand the genetic causes of inherited diseases and susceptibility to drugs or environmental toxins. Arrayed primer extension (APEX) is a microarray based minisequencing strategy for screening disease causing mutations. It is derived from Sanger DNA sequencing and uses fluorescently dideoxynucleotides (ddNTPs) for termination of a growing DNA strand from a primer with its 3´- end designed immediately upstream of a site where single nucleotide polymorphism (SNP) occurs. The use of DNA polymerase offers a very high accuracy and specificity to APEX which in turn happens to be a method of choice for multiplex SNP detection. Coupling the high specificity of this method with the high sensitivity, low cost and compatibility for miniaturization of electrochemical techniques would offer an excellent platform for detection of mutation as well as sequencing of DNA templates. We are developing an electrochemical APEX for the analysis of SNPs found in the MYH7 gene for group of cardiomyopathy patients. ddNTPs were labeled with four different redox active compounds with four distinct potentials. Thiolated oligonucleotide probes were immobilised on gold and glassy carbon substrates which are followed by hybridisation with complementary target DNA just adjacent to the base to be extended by polymerase. Electrochemical interrogation was performed after the incorporation of the redox labelled dedioxynucleotide. The work involved the synthesis and characterisation of the redox labelled ddNTPs, optimisation and characterisation of surface functionalisation strategies and the nucleotide incorporation assays.

Keywords: array based primer extension, labelled ddNTPs, electrochemical, mutations

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387 Clostridium Difficile in Western Australian Native Animals: Prevalence and Molecular Epidemiology

Authors: Karla Cautivo, Thomas Riley, Daniel Knight

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Clostridium difficile infection (CDI) is the most common cause of infectious diarrhea in hospitalised humans. C. difficile colonises the gastrointestinal tract, causes disease in a variety of animal species and can persist as a spore in diverse environments. Genetic overlap between C. difficile strains from human, animal and environmental sources suggests CDI has a zoonotic or foodborne aetiology. In Australia, C. difficile PCR ribotype RT014 (MLST clade 1) and several ST11 (MLST clade 5) RTs are found commonly in livestock. The high prevalence and diversity of ST11 strains in Australian production animals indicates Australia might be the ancestral home for this lineage. This project describes for the first time the ecology of C. difficile in Australian native animals, providing insights into the prevalence, molecular epidemiology and evolution of C. difficile in this unique environment and a possible role in CDI in humans and animals in Australia. Faecal samples were collected from wild/captive reptiles (n=37), mammals (n=104) and birds (n=102) in Western Australia in 2020/21. Anaerobic enrichment culture was performed, and C. difficile isolates were characterised by PCR ribotyping and toxin gene profiling. Seventy isolates of C. difficile were recovered (prevalence of C. difficile in faecal samples 28%, n=68/243); 27 unique RTs were identified, 5 were novel. The prevalence of C. difficile was similar for reptiles and mammals, 46% (n=17/37) and 43%(n=45/104), respectively, but significantly lower in birds (7.8%, n=8/102; p<0.00001 for both reptiles and mammals). Of the 57 isolates available for typing, RT237 (clade 5) and RT002 (clade 2) were the most prevalent, 15.8% (n=9/57) and 14% (n=8/57), respectively. The high prevalence of C. difficile in reptiles and mammals, particularly clade 5 strains, supported by previous studies of C. difficile in Australian soils, suggest that Australia might be the ancestral home of MLST clade 5.

Keywords: Clostridium difficile, zoonosis, molecular epidemiology, ecology and evolution

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386 Advantages and Disadvantages of Socioscientific Issue Based Instruction in Science Classrooms: Pre-Service Science Teachers' Views

Authors: Aysegul Evren Yapicioglu

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The social roles and responsibilities expected from citizens are increasing due to changing global living conditions. Science education is expected to prepare conscious and sensitive students. Because today’s students are the adults of future. Precondition of this task is Teacher Education. In the past decade, one of the most important research field is socioscientific issues. This study deals with advantages and disadvantages of socioscientific issue based instruction in science classroom according to pre-service science teachers’ views. A case study approach that is one of the qualitative research design was used to explore their views. Fourteen pre-service science teachers participated to instruction process. Dolphinariums, Kyoto Protocol, genetically modified organisms, recyclable black bags’ benefits and damages, genetic tests, alternative energy sources and organ donation are examples of socioscientific issues, which were taught through activities in a special teaching course. Diaries and focus group interview were used as data collection tools. As a result of the study, the advantages of socioscientific issue based instruction in science classroom comprise of six sub-categories which are multi-skilling, social awareness development of thinking, meaningful learning, character and professional development, contribution of scientific literacy whereas disadvantages of this instruction process are challenges teachers and students, limitations of teaching and learning process in pre-service science teachers’ perspectives. Finally, this study contributes to science teachers and researchers to overcome disadvantages and benefit from the advantage of socioscientific issue based instruction in science classroom.

Keywords: science education, socioscientific issues, socioscientific issue based instruction, pre-service science teacher

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385 A Critical Analysis of How the Role of the Imam Can Best Meet the Changing Social, Cultural, and Faith-Based Needs of Muslim Families in 21st Century Britain

Authors: Christine Hough, Eddie Abbott-Halpin, Tariq Mahmood, Jessica Giles

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This paper draws together the findings from two research studies, each undertaken with cohorts of South Asian Muslim respondents located in the North of England between 2017 and 2019. The first study, entitled Faith Family and Crime (FFC), investigated the extent to which a Muslim family’s social and health well-being is affected by a family member’s involvement in the Criminal Justice System (CJS). This study captured a range of data through a detailed questionnaire and structured interviews. The data from the interview transcripts were analysed using open coding and an application of aspects of the grounded theory approach. The findings provide clear evidence that the respondents were neither well-informed nor supported throughout the processes of the CJS, from arrest to post-sentencing. These experiences gave rise to mental and physical stress, potentially unfair sentencing, and a significant breakdown in communication within the respondents’ families. They serve to highlight a particular aspect of complexity in the current needs of those South Asian Muslim families who find themselves involved in the CJS and is closely connected to family structure, culture, and faith. The second study, referred to throughout this paper as #ImamsBritain (that provides the majority of content for this paper), explores how Imams, in their role as community faith leaders, can best address the complex – and changing - needs of South Asian Muslims families, such as those that emerged in the findings from FFC. The changing socio-economic and political climates of the last thirty or so years have brought about significant changes to the lives of Muslim families, and these have created more complex levels of social, cultural, and faith-based needs for families and individuals. As a consequence, Imams now have much greater demands made of them, and so their role has undergone far-reaching changes in response to this. The #ImamsBritain respondents identified a pressing need to develop a wider range of pastoral and counseling skills, which they saw as extending far beyond the traditional role of the Imam as a religious teacher and spiritual guide. The #ImamsBritain project was conducted with a cohort of British Imams in the North of England. Data was collected firstly through a questionnaire that related to the respondents’ training and development needs and then analysed in depth using the Delphi approach. Through Delphi, the data were scrutinized in depth using interpretative content analysis. The findings from this project reflect the respondents’ individual perceptions of the kind of training and development they need to fulfill their role in 21st Century Britain. They also provide a unique framework for constructing a professional guide for Imams in Great Britain. The discussions and critical analyses in this paper draw on the discourses of professionalization and pastoral care and relevant reports and reviews on Imam training in Europe and Canada.

Keywords: criminal justice system, faith and culture, Imams, Muslim community leadership, professionalization, South Asian family structure

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384 Molecular Characterization of Cysticercus tenuicolis of Slaughtered Livestock in Upper-Egypt Governorates

Authors: Mosaab A. Omara, Layla O. Elmajdoubb, Mohammad Saleh Al-Aboodyc, Ahmed ElSifyd, Ahmed O. Elkhtamd

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The aim of this study is to present the molecular characterization of cysticercus tenuicolis of Taenia hydatigena from livestock isolates in Egypt, using the amplification of sequencing of the mt-CO1 gene. We introduce a detailed image of the Cysticercus tenuicolis infection in ruminant animals in Upper Egypt. Cysticercus tenuicolis inhabits such organs in ruminants as the omentum, viscera, and liver. In the present study, the infection rate of Cysticercus tenuicolis was found to be 16% and 19% in sheep and goat sample respectively. Firstly we report one larval stage of Taenia hydatigena detected in the camel liver in Egypt. Cysticercus tenuicolis infection manifested a higher prevalence in females than in males. Those above 2 years of age manifested a higher infection rate than younger animals. The preferred site for the infection was the omentum: a 70% preference in sheep and a 68% preference in goat samples. The molecular characterization using the mitochondrial cytochrome c oxidase subunit 1 (CO1) gene of isolates from sheep, goats and camels corresponded to T. hydatigena. For this study, molecular characterizations of T. hydatigena were done for the first time in Egypt. Molecular tools are of great assistance in characterizing the Cysticercus tenuicolis parasite especially when the morphological character cannot be detected because the metacestodes are frequently confused with infection by the Hydatid cyst, especially when these occur in the visceral organs. In the present study, Cysticercus tenuicolis manifested high identity in the goat and sheep samples, while differences were found more frequently in the camel samples (10 pairbase). Clearly molecular diagnosis for Cysticercus tenuicolis infection significantly helps to differentiate it from such other metacestodes.

Keywords: cysticercus tenuicolis, its2, genetic, qena, molecular and taenia hydatigena

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383 Ecological impacts of Cage Farming: A Case Study of Lake Victoria, Kenya

Authors: Mercy Chepkirui, Reuben Omondi, Paul Orina, Albert Getabu, Lewis Sitoki, Jonathan Munguti

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Globally, the decline in capture fisheries as a result of the growing population and increasing awareness of the nutritional benefits of white meat has led to the development of aquaculture. This is anticipated to meet the increasing call for more food for the human population, which is likely to increase further by 2050. Statistics showed that more than 50% of the global future fish diet will come from aquaculture. Aquaculture began commercializing some decades ago; this is accredited to technological advancement from traditional to modern cultural systems, including cage farming. Cage farming technology has been rapidly growing since its inception in Lake Victoria, Kenya. Currently, over 6,000 cages have been set up in Kenyan waters, and this offers an excellent opportunity for recognition of Kenya’s government tactic to eliminate food insecurity and malnutrition, create employment and promote a Blue Economy. However, being an open farming enterprise is likely to emit large bulk of waste hence altering the ecosystem integrity of the lake. This is through increased chlorophyll-a pigments, alteration of the plankton community, macroinvertebrates, fish genetic pollution, transmission of fish diseases and pathogens. Cage farming further increases the nutrient loads leading to the production of harmful algal blooms, thus negatively affecting aquatic and human life. Despite the ecological transformation, cage farming provides a platform for the achievement of the Sustainable Development Goals of 2030, especially the achievement of food security and nutrition. Therefore, there is a need for Integrated Multitrophic Aquaculture as part of Blue Transformation for ecosystem monitoring.

Keywords: aquaculture, ecosystem, blue economy, food security

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382 Combining Transcriptomics, Bioinformatics, Biosynthesis Networks and Chromatographic Analyses for Cotton Gossypium hirsutum L. Defense Volatiles Study

Authors: Ronald Villamar-Torres, Michael Staudt, Christopher Viot

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Cotton Gossypium hirsutum L. is one of the most important industrial crops, producing the world leading natural textile fiber, but is very prone to arthropod attacks that reduce crop yield and quality. Cotton cultivation, therefore, makes an outstanding use of chemical pesticides. In reaction to herbivorous arthropods, cotton plants nevertheless show natural defense reactions, in particular through volatile organic compounds (VOCs) emissions. These natural defense mechanisms are nowadays underutilized but have a very high potential for cotton cultivation, and elucidating their genetic bases will help to improve their use. Simulating herbivory attacks by mechanical wounding of cotton plants in greenhouse, we studied by qPCR the changes in gene expression for genes of the terpenoids biosynthesis pathway. Differentially expressed genes corresponded to higher levels of the terpenoids biosynthesis pathway and not to enzymes synthesizing particular terpenoids. The genes were mapped on the G. hirsutum L. reference genome; their global relationships inside the general metabolic pathways and the biosynthesis of secondary metabolites were visualized with iPath2. The chromatographic profiles of VOCs emissions indicated first monoterpenes and sesquiterpenes emissions, dominantly four molecules known to be involved in plant reactions to arthropod attacks. As a result, the study permitted to identify potential key genes for the emission of volatile terpenoids by cotton plants in reaction to an arthropod attack, opening possibilities for molecular-assisted cotton breeding in benefit of smallholder cotton growers.

Keywords: biosynthesis pathways, cotton, mechanisms of plant defense, terpenoids, volatile organic compounds

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381 Urban Slum Communities Engage in the Fight Against TB in Karnataka, South India

Authors: N. Rambabu, H. Gururaj, Reynold Washington, Oommen George

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Motivation: Under the USAID Strengthening Health Outcomes through Private Sector (SHOPS-TB) initiative, Karnataka Health Promotion Trust (KHPT) with technical support of Abt associates is implementing a TB prevention and care model in Karnataka State, South India. KHPT is the interface agency between the public and private sectors, and providers and the target community facilitating early TB case detection and enhancing treatment compliance through private health care providers (pHCP) engagement in RNTCP. The project coverage is 0.84 million urban poor from 663 slums in 12 districts of Karnataka. Problem Statement: India with the highest burden of global TB (26%) and two million cases annually, accounts for approximately one fifth of the global incidence. WHO estimates 300,000 people die from TB annually in India. India expanded the coverage of Directly Observed Treatment, Short-course chemotherapy (DOTS) to the entire country as early as 2006. However, the performance of RNTCP has not been uniform across states. While the national annual new smear-positive (NSP) case notification rate is 53, it is much lower at 47 in Karnataka. A third of TB patients in India reside in urban slums. Approach: Under SHOPS, KHPT actively engages with communities through key opinion leaders and community structures. Interpersonal communication, by Outreach workers through house-to-house visits and at aggregation points, is the primary method used for communication about TB and its management and to increase demand for sputum examination and DOTS. pHCP are mapped, trained and mentored by KHPT. ORWs also provide patient and family counseling on TB treatment, side effects and adherence, screen close contacts of index patients especially children under 6 years of age and screen co-morbidities including HIV, diabetes and malnutrition and risk factors including alcoholism, tobacco use, occupational hazards making appropriate accompanied or documented referrals. A treatment ‘buddy’ system for the patients involving close friends or family members, ICT-based support, DOTS Prerana (inspiration) groups of TB patients, family members and community, DOTS Mitra (friend) helpline services are also used for care and support services. Results: The intervention educated 39988 slum dwellers, referred 1731 chest symptomatics, tested 1061 patients and initiated 248 patients on anti-TB treatment within three months of intervention through continuous community engagement. Conclusions: The intervention’s potential to increase access to preferred health care providers, reduce patient and health system delays in diagnosis and initiation of treatment, improve health seeking behaviour and enhance compliance of pHCPs to standard treatment protocols is being monitored. Initial results are promising.

Keywords: DOTS, KHPT, health outcomes, public and private sector

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380 The Role of Non-Native Plant Species in Enhancing Food Security in Sub-Saharan Africa

Authors: Thabiso Michael Mokotjomela, Jasper Knight

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Intensification of agricultural food production in sub-Saharan Africa is of paramount importance as a means of increasing the food security of communities that are already experiencing a range of environmental and socio-economic stresses. However, achieving this aim faces several challenges including ongoing climate change, increased resistance of diseases and pests, extreme environmental degradation partly due to biological invasions, land tenure and management practices, socio-economic developments of rural populations, and national population growth. In particular, non-native plant species tend to display greater adaptation capacity to environmental stress than native species that form important food resource base for human beings, thus suggesting a potential for usage to shift accordingly. Based on review of the historical benefits of non-native plant species in food production in sub-Saharan Africa, we propose that use of non-invasive, non-native plant species and/or the genetic modification of native species might be viable options for future agricultural sustainability in this region. Coupled with strategic foresight planning (e.g. use of biological control agents that suppress plant species’ invasions), the consumptive use of already-introduced non-native species might help in containment and control of possible negative environmental impacts of non-native species on native species, ecosystems and biodiversity, and soil fertility and hydrology. Use of non-native species in food production should be accompanied by low cost agroecology practices (e.g. conservation agriculture and agrobiodiversity) that may promote the gradual recovery of natural capital, ecosystem services, and promote conservation of the natural environment as well as enhance food security.

Keywords: food security, invasive species, agroecology, agrobiodiversity, socio-economic stresses

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379 Morphometric Parameters and Evaluation of Persian Fallow Deer Semen in Dashenaz Refuge in Iran

Authors: Behrang Ekrami, Amin Tamadon

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Persian fallow deer (Dama dama mesopotamica) is belonging to the family Cervidae and is only found in a few protected areas in the northwest, north, and southwest of Iran. The aims of this study were analysis of inbreeding and morphometric parameters of semen in male Persian fallow deer to investigate the cause of reduced fertility of this endangered species in Dasht-e-Naz National Refuge, Sari, Iran. The Persian fallow deer semen was collected from four adult bucks randomly during the breeding and non-breeding season from five dehorned and horned deer's BY an artificial vagina. Twelve blood samples was taken from Persian fallow deer and mitochondrial DNA was extracted, amplified, extracted, sequenced, and then were considered for genetic analysis. The Persian fallow deer semen, both with normal and abnormal spermatozoa, is similar to that of domestic ruminants but very smaller and difficult to observe at the primary observation. The post-mating season collected ejaculates contained abnormal spermatozoa, debris and secretion of accessory glands in horned bucks and accessory glands secretion free of any spermatozoa in dehorned or early velvet budding bucks. Microscopic evaluation in all four bucks during the mating season showed the mean concentration of 9×106 spermatozoa/ml. The mean ±SD of age, testes length and testes width was 4.60±1.52 years, 3.58±0.32 and 1.86±0.09 cm, respectively. The results identified 1120 loci (assuming each nucleotide as locus) in which 377 were polymorphic. In conclusion, reduced fertility of male Persian fallow deer may be caused by inbreeding of the protected herd in a limited area of Dasht-e-Naz National Refuge.

Keywords: Persian fallow deer, spermatozoa, reproductive characteristics, morphometric parameters

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378 Quality of Ram Semen in Relation to Scrotal Biometry

Authors: M. M. Islam, S. Sharmin, M. Shah Newaz, N. S. Juyena, M. M. Rahman, P. K. Jha, F. Y. Bari

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The aim of the present study was to select the high quality ram by measuring the scrotal biometry which has an effect on semen parameters. Ten rams were selected in the present study. Eight ejaculates were collected from each ram using artificial vagina method. Scrotal circumference was measured before and after semen collection on weekly basis using the Scrotal tape. Bio-metries of scrotum (scrotal length and scrotal volume) were calculated. Semen was evaluated for macroscopic and microscopic characteristics. The average estimated scrotal circumference (cm) and scrotal volume (cm3) in 8 different age groups were 17.16±0.05 cm and 61.30±0.70 cm3, 17.17±0.62 cm and 63.67±4.49 cm3, 17.22±0.52 cm and 64.90±4.21 cm3, 17.72±0.37 cm and 67.10±4.20 cm3, 18.41±0.35cm and 69.52±4.12cm3, 18.45±0.36cm and 77.17±3.81 cm3, 18.55±0.41 cm and 78.72±4.90 cm3, 19.10±0.30 cm and 87.35±5.45 cm3 respectively. The body weight, scrotal circumference and scrotal volume increased with the progress of age (P < 0.05). Body weight of age group 381-410 days (13.62+1.48 kg) was significantly higher than group 169-200 days (10.17±0.05 kg) and 201-230 days (10.42±1.18 kg) (p < 0.05). Scrotal circumference (SC) of age group 381-410 days (19.10±0.30 cm) was significantly higher (p < 0.05) than other groups. In age group 381-410 days, scrotal volume (SCV) (87.35±5.45 cm3) was significantly higher than other first five groups (p < 0.05). Both scrotal circumference and scrotal volume development was positively correlated with the increasing of body weight (R2= 0.51). Semen volume increased accordingly with the increasing of ages, varied from 0.35±0.00 ml to 1.15+0.26 ml. Semen volume of age group 381-410 days (1.15±0.26 ml) was significantly higher than other age groups (p < 0.05) except age group 351-380 days (p > 0.05). Mass activity of different age groups varied from 2.75 (±0.35) to 4.25 (±0.29) ml in the scale of 1-5. Sperm concentration, progressive motility (%),progressively improved according to the increasing of ages, but significant changes in these parameters were seen when the animals reaches the age 291 days or more (p < 0.05). However, normal spermatozoa (%) improved significantly from the age of 261 days or more. Mass activity (mass) was positively correlated with sperm concentration (R2=0.568) and progressive motility (%) (R2=0.616). The relationships of semen volume with body weight and scrotal measurements and sperm concentration indicate that they are useful in evaluating rams for breeding soundness and genetic improvement for fertility in indigenous ram.

Keywords: breeding soundness, ram, semen quality, scrotal biometry

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377 Beyond Baudrillard: A Critical Intersection between Semiotics and Materialism

Authors: Francesco Piluso

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Nowadays, to restore the deconstructive power of semiotics implies a critical analysis of neoliberal ideology, and, even more critically, a confrontation with materialist perspective. The theoretical path of Jean Baudrillard is crucial to understand the ambivalence of this intersection. A semiotic critique of Baudrillard’s work, through tools of both structuralism and interpretative semiotics, has the aim to give materialism a new consistent semiotic approach and vice-versa. According to Baudrillard, the commodity form is characterized by the same abstract and systemic logic of the sign-form, in which the production of the signified (use-value) is a mere ideological mean for the reproduction of the signifiers-chain (exchange-value). Nevertheless, this parallelism is broken by the author himself: if the use-value is deconstructed in its relative logic, the signified and the referent, both as discrete and positive elements, are collapsed on the same plane at the shadows of the signified forms. These divergent considerations lead Baudrillard to the same crucial point: the dismissal of the material world, replaced by the hyperreality as reproduction of a semiotic (genetic) Code. The stress on the concept of form, as an epistemological and semiotic tool to analyse the construction of values in the consumer society, has led to the Code as its ontological drift. In other words, Baudrillard seems to enclose consumer society (and reality) in this immanent and self-fetishized world of signs–an ideological perspective that mystifies the gravity of the material relationships between Northern-Western World and Third World. The notion of Encyclopaedia by Umberto Eco is the key to overturn the relationship of immanence/transcendence between the Code and the economic political of the sign, by understanding the former as an ideological plane within the encyclopedia itself. Therefore, rather than building semiotic (hyper)realities, semiotics has to deal with materialism in terms of material relationships of power which are mystified and reproduced through such ideological ontologies of signs.

Keywords: Baudrillard, Code, Eco, Encyclopaedia, epistemology vs. ontology, semiotics vs. materialism

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376 Design and Optimization of a Small Hydraulic Propeller Turbine

Authors: Dario Barsi, Marina Ubaldi, Pietro Zunino, Robert Fink

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A design and optimization procedure is proposed and developed to provide the geometry of a high efficiency compact hydraulic propeller turbine for low head. For the preliminary design of the machine, classic design criteria, based on the use of statistical correlations for the definition of the fundamental geometric parameters and the blade shapes are used. These relationships are based on the fundamental design parameters (i.e., specific speed, flow coefficient, work coefficient) in order to provide a simple yet reliable procedure. Particular attention is paid, since from the initial steps, on the correct conformation of the meridional channel and on the correct arrangement of the blade rows. The preliminary geometry thus obtained is used as a starting point for the hydrodynamic optimization procedure, carried out using a CFD calculation software coupled with a genetic algorithm that generates and updates a large database of turbine geometries. The optimization process is performed using a commercial approach that solves the turbulent Navier Stokes equations (RANS) by exploiting the axial-symmetric geometry of the machine. The geometries generated within the database are therefore calculated in order to determine the corresponding overall performance. In order to speed up the optimization calculation, an artificial neural network (ANN) based on the use of an objective function is employed. The procedure was applied for the specific case of a propeller turbine with an innovative design of a modular type, specific for applications characterized by very low heads. The procedure is tested in order to verify its validity and the ability to automatically obtain the targeted net head and the maximum for the total to total internal efficiency.

Keywords: renewable energy conversion, hydraulic turbines, low head hydraulic energy, optimization design

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375 Considerations in Pregnancy Followed by Obesity Surgery

Authors: Maryam Nazari, Atefeh Ghanbari, Saghar Noorinia

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Obesity, as an abnormal or excessive accumulation of fat, is caused by genetic, behavioral and environmental factors. Recently, obesity surgeries, such as bariatric surgery, as the last measure to control obesity, have attracted experts and society, especially women, attention, so knowing the possible complications of this major surgery and their control in reproductive age is of particular importance due to its effects on pregnancy outcomes. Bariatric surgery reduces the risk of diabetes and high blood pressure associated with pregnancy, premature birth, macrosomia, stillbirth and dumping syndrome. Although in the first months after surgery, nausea and vomiting caused by changes in intra-abdominal pressure are associated with an increased risk of malabsorption of micronutrients such as folic acid, iron, vitamin B1, D, calcium, selenium and phosphorus and finally, fetal growth disorder. Moreover, serum levels of micronutrients such as vitamin D, calcium, and iron in mothers who used to have bariatric surgery and their babies have been shown to be lower than in mothers without a history of bariatric surgery. Moreover, vitamin A deficiency is shown to be more widespread in pregnancies after bariatric surgery, which leads to visual problems in newborns and premature delivery. However, complications such as the duration of hospitalization of newborns in the NICU, disease rate in the first 28 days of life and congenital anomalies are not significantly different in babies born to mothers undergoing bariatric surgery compared to the control group. In spite of the vast advantages following obesity surgeries, due to the catabolic conditions and severe weight loss followed by such major intervention and the probability of nutrients malnutrition in a pregnant woman and her baby, after having surgery, at least 12 to 18 months should be considered to get pregnant as a recovery period. In addition, taking essential supplements before and at least 6 months after this approach is recommended.

Keywords: bariatric surgery, pregnancy, malnutrition, vitamin and mineral deficiency

Procedia PDF Downloads 93
374 Functional Connectivity Signatures of Polygenic Depression Risk in Youth

Authors: Louise Moles, Steve Riley, Sarah D. Lichenstein, Marzieh Babaeianjelodar, Robert Kohler, Annie Cheng, Corey Horien Abigail Greene, Wenjing Luo, Jonathan Ahern, Bohan Xu, Yize Zhao, Chun Chieh Fan, R. Todd Constable, Sarah W. Yip

Abstract:

Background: Risks for depression are myriad and include both genetic and brain-based factors. However, relationships between these systems are poorly understood, limiting understanding of disease etiology, particularly at the developmental level. Methods: We use a data-driven machine learning approach connectome-based predictive modeling (CPM) to identify functional connectivity signatures associated with polygenic risk scores for depression (DEP-PRS) among youth from the Adolescent Brain and Cognitive Development (ABCD) study across diverse brain states, i.e., during resting state, during affective working memory, during response inhibition, during reward processing. Results: Using 10-fold cross-validation with 100 iterations and permutation testing, CPM identified connectivity signatures of DEP-PRS across all examined brain states (rho’s=0.20-0.27, p’s<.001). Across brain states, DEP-PRS was positively predicted by increased connectivity between frontoparietal and salience networks, increased motor-sensory network connectivity, decreased salience to subcortical connectivity, and decreased subcortical to motor-sensory connectivity. Subsampling analyses demonstrated that model accuracies were robust across random subsamples of N’s=1,000, N’s=500, and N’s=250 but became unstable at N’s=100. Conclusions: These data, for the first time, identify neural networks of polygenic depression risk in a large sample of youth before the onset of significant clinical impairment. Identified networks may be considered potential treatment targets or vulnerability markers for depression risk.

Keywords: genetics, functional connectivity, pre-adolescents, depression

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373 An Integrated Ecosystem Service-based Approach for the Sustainable Management of Forested Islands in South Korea

Authors: Jang-Hwan Jo

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Implementing sustainable island forest management policies requires categorizing islands into groups based on key indicators and establishing a consistent management system. Building on the results of previous studies, a typology of forested islands was established: Type 1 – connected islands with high natural vegetation cover; Type 2 – connected islands with moderate natural vegetation cover; Type 3 – connected islands with low natural vegetation cover; Type 4 – unconnected islands with high natural vegetation cover; Type 5 – unconnected islands with moderate natural vegetation cover; and Type 6 – unconnected islands with low natural vegetation cover. An AHP analysis was conducted with island forest experts to identify priority ecosystem services (ESs) for the sustainable management of each island type. In connected islands, provisioning services (natural resources, natural medicines, etc.) assumed greater importance than regulating (erosion control) and supporting services (genetic diversity). In unconnected islands, particularly those with a small proportion of natural vegetation, regulating services (erosion control) requires greater emphasis in management. Considering that Type 3 islands require urgent management as connectivity to the mainland makes natural vegetation-sparse island forest ecosystems vulnerable to anthropogenic activities, the land-use scoring method was carried out on Jin-do, a Type 3 forested island. Comparisons between AHP-derived expert demand for key island ESs and the spatial distribution of ES supply potential revealed mismatches between the supply and demand of erosion control, freshwater supply, and habitat provision. The framework developed in this study can help guide decisions and indicate where interventions should be focused to achieve sustainable island management.

Keywords: ecosystem service, sustainable management, forested islands, Analytic hierarchy process

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372 Physical Fitness in Omani Children with Sickle Cell Disease and Sickle Cell Trait

Authors: Mahfoodha Al-Kitani, Dylan Thompson, Keith Stokes

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Sickle cell disease (SCD) and sickle cell trait (SCT) are the most common hematological diseases in Oman according to the national survey of genetic blood disorders. The aim of this study was to determine markers of physical fitness and anthropometrics indices in children with sickle cell disease and children with sickle cell trait and compare them with normal healthy children of the same age. One hundred and twenty male children participated in the present study divided to three groups: 40 with sickle disease (SCD; age, 13.3(.80), height, 131.9(3.5), mass, 29.2(3.1)); 40 with sickle cell trait (SCT; age, 12.2(.80), height, 141.0(9.9), mass, 38.0(4.4)); and 40 controls with normal hemoglobin (Con; age, 12.8(.80), height, 139.4(8.7), mass, 37.2(4.3)). All children completed a 5-min running exercise test on a treadmill at speed corresponding to 5 km/hr. Heart rate and was recorded during exercise and during 10-min of recovery. Blood lactate was measured before and 5 min after the completion of exercise. Children with SCD exhibited a higher mean value (P < 0.05) for percent body fat and fat mass than the normal healthy subjects and SCT subjects. Resting values of hemoglobin were similar in SCT (11.04(.78)) and control (10.8(94)) groups, and lower in SCD (8.89(.54); P < 0.05). There was a strong correlation between peak heart rate and resting hemoglobin levels for the three groups (r= -.472. n= 120, p < .0005).The SCD group (175.2(10.3)) exhibited higher mean heart rate during exercise than those observed in the SCT (143.7(9.5)) and normal control children (144.5(22.4); P < 0.05). Additionally, SCD children showed higher serum lactate values before and after treadmill exercise compared to the other groups (P < 0.05). Children with sickle cell trait demonstrate similar physical fitness level and similar exercise responses to treadmill stress test to normal children. In contrast, SCD children have lower body mass, higher fat mass and lower physical fitness than children with SCT and healthy controls.

Keywords: sickle cell disease, sickle cell trait, children, exercise

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371 The Effects of Acupoint Catgut Embedding for Weight Control in Mice Model

Authors: Chanya Inprasit, Ching-Liang Hsieh, Yi-Wen Lin

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Obesity (OB) is a hazardous global health problem that has been increasing in prevalence, more severely in last decade. It is the mainly resultant from the imbalance between food consumption and energy expenditure, which is concordant with a modern lifestyle, implying an increase in calories with poorer quality of food intake accompanied by a decrease in physical activities. Obesity does not concern the appearance only but is also a major factor contributing to poor physiology, psychology, society and economic issues. Moreover, OB induces low-grade inflammation in the body through the regulatory effect it enacts on the adipocyte function. Various alternative treatments were investigated for body weight control, including Acupoint Catgut Embedding (ACE). ACE is the implantation of absorbable catgut sutures at specific acupoints, displaying durable and potent stimulation and thereby reducing the treatment frequency. Our study utilized a mouse model to exclude any psychological factors of OB and ACE treatment. High-fat diet and body weight were measured once a week before subjects in ACE and Sham group received the ACE treatment or placebo treatment. We hypothesized that ACE can control body weight through the interaction of the TRPV1 pathways, as TRPV1 accordingly responds to inflammatory factors. The results of body weight variation show a significant decrease in body weight in ACE group compared with the baseline of control and Sham group. Meanwhile, converse results were explored in TRPV1 knockout mice, where a significant maintenance of normal body weight throughout the experiment period was observed. There was no significant difference in food consumption of each group. These finding indicated that TRPV1 pathways and its associated pathways may be involved in the maintenance of body weight, which can be controlled by ACE treatment of genetic manipulation.

Keywords: acupoint catgut embedding, obesity, hypothalamus, TRPV1

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370 Development of Cost-effective Sensitive Methods for Pathogen Detection in Community Wastewater for Disease Surveillance

Authors: Jesmin Akter, Chang Hyuk Ahn, Ilho Kim, Jaiyeop Lee

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Global pandemic coronavirus disease (COVID-19) caused by Severe acute respiratory syndrome SARS-CoV-2, to control the spread of the COVID-19 pandemic, wastewater surveillance has been used to monitor SARS-CoV2 prevalence in the community. The challenging part is establishing wastewater surveillance; there is a need for a well-equipped laboratory for wastewater sample analysis. According to many previous studies, reverse transcription-polymerase chain reaction (RT-PCR) based molecular tests are the most widely used and popular detection method worldwide. However, the RT-qPCR based approaches for the detection or quantification of SARS-CoV-2 genetic fragments ribonucleic acid (RNA) from wastewater require a specialized laboratory, skilled personnel, expensive instruments, and a workflow that typically requires 6 to 8 hours to provide results for just minimum samples. Rapid and reliable alternative detection methods are needed to enable less-well-qualified practitioners to set up and provide sensitive detection of SARS-CoV-2 within wastewater at less-specialized regional laboratories. Therefore, scientists and researchers are conducting experiments for rapid detection methods of COVID-19; in some cases, the structural and molecular characteristics of SARS-CoV-2 are unknown, and various strategies for the correct diagnosis of COVID-19 have been proposed by research laboratories, which are presented in the present study. The ongoing research and development of these highly sensitive and rapid technologies, namely RT-LAMP, ELISA, Biosensors, GeneXpert, allows a wide range of potential options not only for SARS-CoV-2 detection but also for other viruses as well. The effort of this study is to discuss the above effective and regional rapid detection and quantification methods in community wastewater as an essential step in advancing scientific goals.

Keywords: rapid detection, SARS-CoV-2, sensitive detection, wastewater surveillance

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369 Multi-Objective Optimal Design of a Cascade Control System for a Class of Underactuated Mechanical Systems

Authors: Yuekun Chen, Yousef Sardahi, Salam Hajjar, Christopher Greer

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This paper presents a multi-objective optimal design of a cascade control system for an underactuated mechanical system. Cascade control structures usually include two control algorithms (inner and outer). To design such a control system properly, the following conflicting objectives should be considered at the same time: 1) the inner closed-loop control must be faster than the outer one, 2) the inner loop should fast reject any disturbance and prevent it from propagating to the outer loop, 3) the controlled system should be insensitive to measurement noise, and 4) the controlled system should be driven by optimal energy. Such a control problem can be formulated as a multi-objective optimization problem such that the optimal trade-offs among these design goals are found. To authors best knowledge, such a problem has not been studied in multi-objective settings so far. In this work, an underactuated mechanical system consisting of a rotary servo motor and a ball and beam is used for the computer simulations, the setup parameters of the inner and outer control systems are tuned by NSGA-II (Non-dominated Sorting Genetic Algorithm), and the dominancy concept is used to find the optimal design points. The solution of this problem is not a single optimal cascade control, but rather a set of optimal cascade controllers (called Pareto set) which represent the optimal trade-offs among the selected design criteria. The function evaluation of the Pareto set is called the Pareto front. The solution set is introduced to the decision-maker who can choose any point to implement. The simulation results in terms of Pareto front and time responses to external signals show the competing nature among the design objectives. The presented study may become the basis for multi-objective optimal design of multi-loop control systems.

Keywords: cascade control, multi-Loop control systems, multiobjective optimization, optimal control

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368 MicroRNA-211 Regulates Oxidative Phosphorylation and Energy Metabolism in Human Vitiligoa

Authors: Anupama Sahoo, Bongyong Lee, Katia Boniface, Julien Seneschal, Sanjaya K. Sahoo, Tatsuya Seki, Chunyan Wang, Soumen Das, Xianlin Han, Michael Steppie, Sudipta Seal, Alain Taieb, Ranjan J. Perera

Abstract:

Vitiligo is a common, chronic skin disorder characterized by loss of epidermal melanocytes and progressive depigmentation. Vitiligo has a complex immune, genetic, environmental, and biochemical etiology, but the exact molecular mechanisms of vitiligo development and progression, particularly those related to metabolic control, are poorly understood. Here we characterized the human vitiligo cell line PIG3V and the normal human melanocytes, HEM-l by RNA-sequencing, targeted metabolomics, and shotgun lipidomics. Melanocyte-enriched miR-211, a known metabolic switch in non-pigmented melanoma cells, was severely downregulated in vitiligo cell line PIG3V and skin biopsies from vitiligo patients, while its novel predicted targets transcriptional co-activator PGC1-α (PPARGC1A), ribonucleotide reductase regulatory subunit M2 (RRM2), and serine-threonine protein kinase TAO1 (TAOK1) were reciprocally upregulated. miR-211 binds to PGC1-α 3’UTR locus and represses it. Although mitochondrial numbers were constant, mitochondrial complexes I, II, and IV and respiratory responses were defective in vitiligo cells. Nanoparticle-coated miR-211 partially augmented the oxygen consumption rate in PIG3V cells. The lower oxygen consumption rate, changes in lipid and metabolite profiles, and increased reactive oxygen species production observed in vitiligo cells appear to be partly due to abnormal regulation of miR-211 and its target genes. These genes represent potential biomarkers and therapeutic targets in human vitiligo.

Keywords: metabolism, microRNA, mitochondria, vitiligo

Procedia PDF Downloads 367
367 Phenotypic Characterisation of Bapedi Sheep Breed

Authors: Fhulufhelo Ramukhithi, Kgothatso Masethe, Tlou Chokoe, Ayanda Maqhashu, Julius Sebei, Tshililo Raphulu, Joseph Mugwabana

Abstract:

Phenotypic characterisation ensures that the physical appearance of an animal is well documented. The information provided by this phenotypic characterisation study is important for planning management and the use of animal genetic resources. The aim of this study was to characterise the phenotypic characteristics of Bapedi sheep. Bapedi sheep are at risk of extinction like most of the indigenous breeds. As a result, a total of 196 Bapedi ewes and 35 rams were used. Phenotypic-qualitative characteristics were evaluated through visual appraisal. Phenotypic-quantitative characteristics such as body parts measurements were obtained using a flexible tape (cm), while body weight were obtained by using a weighing scale (kg). Bapedi rams (97 %) had higher satisfactory body condition when compared to ewes (75 %). A higher proportion of Bapedi sheep that did not have ticks observed (ewes = 87 % and rams = 91 %). Brown and white colour combination (head x body) was dominating in Bapedi sheep (80 % ewes and 91 % rams). Bapedi ewes did not have any horns; however, 3 % of rams had them. Bapedi sheep had a higher proportion of brown eyes, moderate neck, stiff sideways ears and normal front legs. Bapedi rams had a higher proportion of well-balanced and good attached testicles. Bapedi ewes had average (45 %), small (40 %) and big udders (15 %). Bapedi rams had a significantly higher body weight, height, depth, hearth girth circumference, rump width, hind leg width and length compared to ewes. However, both Bapedi rams and ewes had similar age, body condition score, tail length, length below hock and knee. In conclusion, Bapedi sheep had a higher satisfactory body condition and brown and white colour combination. Some of Bapedi rams’ quantitative characteristics were higher compared to ewes.

Keywords: extinction, indigenous, phenotypic, smallstock

Procedia PDF Downloads 214
366 Insight into the Visual Attentional Correlates Underpinning Autistic-Like Traits in Fragile X and Down Syndrome

Authors: Jennifer M. Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael S. C. Thomas

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Genetic syndrome groups that feature high rates of autism comorbidity, like Down syndrome (DS) and fragile X syndrome (FXS), have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in important ways from the idiopathic or ‘non-syndromic’ autism phenotype. To uncover the true nature of these comorbidities, it is necessary to extend definitions of autism to include the cognitive characteristics of the disorder and to then apply this broadened conceptualisation to the study of syndromic autism profiles. The current study employs a variety of well-established eye-tracking paradigms to assess visual attentional performance in children with DS and FXS who reach thresholds for autism on the Social Communication Questionnaire. It investigates whether autism profiles in these children are accompanied by visual orienting difficulties (‘sticky attention’), decreased social attention, and enhanced visual search performance, all of which are characteristic of the idiopathic autism phenotype. Data is collected from children with DS and FXS aged between 6 and 10 years, in addition to two control groups matched on age and intellectual ability (i.e., children with idiopathic autism and neurotypical controls). Cross-sectional developmental trajectory analyses are conducted to enable visuo-attentional profile comparisons. Significant differences in the visuo-attentional processes underpinning autism presentations in children with FXS and DS are hypothesised, supporting notions of syndrome specificity. The study provides insight into the complex heterogeneity associated with syndromic autism presentations and autism per se, with clinical implications for the utility of autism intervention programmes in DS and FXS populations.

Keywords: autism, down syndrome, fragile X syndrome, eye tracking

Procedia PDF Downloads 240
365 Functional Outcome of Speech, Voice and Swallowing Following Excision of Glomus Jugulare Tumor

Authors: B. S. Premalatha, Kausalya Sahani

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Background: Glomus jugulare tumors arise within the jugular foramen and are commonly seen in females particularly on the left side. Surgical excision of the tumor may cause lower cranial nerve deficits. Cranial nerve involvement produces hoarseness of voice, slurred speech, and dysphagia along with other physical symptoms, thereby affecting the quality of life of individuals. Though oncological clearance is mainly emphasized on while treating these individuals, little importance is given to their communication, voice and swallowing problems, which play a crucial part in daily functioning. Objective: To examine the functions of voice, speech and swallowing outcomes of the subjects, following excision of glomus jugulare tumor. Methods: Two female subjects aged 56 and 62 years had come with a complaint of change in voice, inability to swallow and reduced clarity of speech following surgery for left glomus jugulare tumor were participants of the study. Their surgical information revealed multiple cranial nerve palsies involving the left facial, left superior and recurrent branches of the vagus nerve, left pharyngeal, left soft palate, left hypoglossal and vestibular nerves. Functional outcomes of voice, speech and swallowing were evaluated by perceptual and objective assessment procedures. Assessment included the examination of oral structures and functions, dysarthria by Frenchey dysarthria assessment, cranial nerve functions and swallowing functions. MDVP and Dr. Speech software were used to evaluate acoustic parameters of voice and quality of voice respectively. Results: The study revealed that both the subjects, subsequent to excision of glomus jugulare tumor, showed a varied picture of affected oral structure and functions, articulation, voice and swallowing functions. The cranial nerve assessment showed impairment of the vagus, hypoglossal, facial and glossopharyngeal nerves. Voice examination indicated vocal cord paralysis associated with breathy quality of voice, weak voluntary cough, reduced pitch and loudness range, and poor respiratory support. Perturbation parameters as jitter, shimmer were affected along with s/z ratio indicative of voice fold pathology. Reduced MPD(Maximum Phonation Duration) of vowels indicated that disturbed coordination between respiratory and laryngeal systems. Hypernasality was found to be a prominent feature which reduced speech intelligibility. Imprecise articulation was seen in both the subjects as the hypoglossal nerve was affected following surgery. Injury to vagus, hypoglossal, gloss pharyngeal and facial nerves disturbed the function of swallowing. All the phases of swallow were affected. Aspiration was observed before and during the swallow, confirming the oropharyngeal dysphagia. All the subsystems were affected as per Frenchey Dysarthria Assessment signifying the diagnosis of flaccid dysarthria. Conclusion: There is an observable communication and swallowing difficulty seen following excision of glomus jugulare tumor. Even with complete resection, extensive rehabilitation may be necessary due to significant lower cranial nerve dysfunction. The finding of the present study stresses the need for involvement of as speech and swallowing therapist for pre-operative counseling and assessment of functional outcomes.

Keywords: functional outcome, glomus jugulare tumor excision, multiple cranial nerve impairment, speech and swallowing

Procedia PDF Downloads 252
364 Screening for Diabetes in Patients with Chronic Pancreatitis: The Belfast Trust Experience

Authors: Riyas Peringattuthodiyil, Mark Taylor, Ian Wallace, Ailish Nugent, Mike Mitchell, Judith Thompson, Allison McKee, Philip C. Johnston

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Aim of Study: The purpose of the study was to screen for diabetes through HbA1c in patients with chronic pancreatitis (CP) within the Belfast Trust. Background: Patients with chronic pancreatitis are at risk of developing diabetes, earlier diagnosis with subsequent multi-disciplinary input has the potential to improve clinical outcomes. Methods: Clinical and laboratory data of patients with chronic pancreatitis were obtained through the Northern Ireland Electronic Healthcare Record (NIECR), specialist hepatobiliary, and gastrointestinal clinics. Patients were invited to have a blood test for HbA1c. Newly diagnosed patients with diabetes were then invited to attend a dedicated Belfast City Hospital (BCH) specialist chronic pancreatitis and diabetes clinic for follow up. Results: A total of 89 chronic pancreatitis patients were identified; Male54; Female:35, mean age 52 years, range 12-90 years. Aetiology of CP included alcohol 52/89 (58%), gallstones 18/89 (20%), idiopathic 10/89 11%, 2 were genetic, 1: post ECRP, 1: IgG autoimmune, 1: medication induced, 1: lipoprotein lipase deficiency 1: mumps, 1: IVDU and 1: pancreatic divisum. No patients had pancreatic carcinoma. Mean duration of CP was nine years, range 3-30 years. 15/89 (16%) of patients underwent previous pancreatic surgery/resections. Recent mean BMI was 25.1 range 14-40 kg/m². 62/89 (70%) patients had HbA1c performed. Mean HbA1c was 42 mmol/mol, range 27-97mmol/mol, 42/62 (68%) had normal HbA1c (< 42 mmol/mol) 13/62 (21%) had pre-diabetes (42-47mmol/mol) and 7/62 (11%) had diabetes (≥ 48 mmol/mol). Conclusions: Of those that participated in the screening program around one-third of patients with CP had glycaemic control in the pre and diabetic range. Potential opportunities for improving screening rates for diabetes in this cohort could include regular yearly testing at gastrointestinal and hepatobiliary clinics.

Keywords: pancreatogenic diabetes, screening, chronic pancreatitis, trust experience

Procedia PDF Downloads 159
363 Analysis of Non-Coding Genome in Streptococcus pneumoniae for Molecular Epidemiology Typing

Authors: Martynova Alina, Lyubov Buzoleva

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Streptococcus pneumoniae is the causative agent of pneumonias and meningitids throught all the world. Having high genetic diversity, this microorganism can cause different clinical forms of pneumococcal infections and microbiologically it is really difficult diagnosed by routine methods. Also, epidemiological surveillance requires more developed methods of molecular typing because the recent method of serotyping doesn't allow to distinguish invasive and non-invasive isolates properly. Non-coding genome of bacteria seems to be the interesting source for seeking of highly distinguishable markers to discriminate the subspecies of such a variable bacteria as Streptococcus pneumoniae. Technically, we proposed scheme of discrimination of S.pneumoniae strains with amplification of non-coding region (SP_1932) with the following restriction with 2 types of enzymes of Alu1 and Mn1. Aim: This research aimed to compare different methods of typing and their application for molecular epidemiology purposes. Methods: we analyzed population of 100 strains of S.pneumoniae isolated from different patients by different molecular epidemiology methods such as pulse-field gel electophoresis (PFGE), restriction polymorphism analysis (RFLP) and multilolocus sequence typing (MLST), and all of them were compared with classic typing method as serotyping. The discriminative power was estimated with Simpson Index (SI). Results: We revealed that the most discriminative typing method is RFLP (SI=0,97, there were distinguished 42 genotypes).PFGE was slightly less discriminative (SI=0,95, we identified 35 genotypes). MLST is still the best reference method (SI=1.0). Classic method of serotyping showed quite weak discriminative power (SI=0,93, 24 genotypes). In addition, sensivity of RFLP was 100%, specificity was 97,09%. Conclusion: the most appropriate method for routine epidemiology surveillance is RFLP with non-coding region of Streptococcsu pneumoniae, then PFGE, though in some cases these results should be obligatory confirmed by MLST.

Keywords: molecular epidemiology typing, non-coding genome, Streptococcus pneumoniae, MLST

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362 Psychological Alarm among Individuals Suffering from Irritable Bowel Syndrome

Authors: Selim A., Albasher N., Bakrmom G., Alanzi S.

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Irritable bowel syndrome (IBS) is a chronic functional bowel disorder characterized by abdominal discomfort or pain and associated with alteration in frequency and/or form of bowel habit among other symptoms. This diagnosis is associated with increased levels of psychological distress, maladaptive coping, genetic risk factors, abnormal small and colonic intestine transit, change in stool frequency or form and abdominal discomfort or pain. Aim: The aim of the study was to assess psychological alarm among individuals suffering from Irritable Bowel Syndrome (IBS). Methods: A cross-sectional correlational research design was used to conduct the current study. A convenience sample of 504 participants was included in the present study. Data were collected using a self-report questionnaire. The questionnaire included socio-demographic data, ROME III to identify Irritable Bowel Syndrome (IBS) and Psychological Alarm Questionnaire. Results: Out of 504 participants who reported abdominal discomfort, 297 (58.9 %) participants met the diagnostic criteria of IBS. The mean age of the IBS participants was 30.16 years, females composed 75.1% of the IBS participants, and 55.2% did not seek medical help. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals when compared to individuals not suffering from IBS. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals compared to individuals not suffering from IBS. Conclusion: IBS is highly associated with significant psychological alarms including depression, anxiety and suicidal ideas.

Keywords: abdominal pain , irritable bowel syndrome, distress, psychological alarms

Procedia PDF Downloads 189