Search results for: genetic disorder

Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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Authors: Bentata Samir, Bendahma Fatima

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We have numerically studied the random trimer barrier AlxGa1-xAs superlattices (RTBSL). Such systems consist of two different structures randomly distributed along the growth direction, with the additional constraint that the barriers of one kind appear in triply. An explicit formula is given for evaluating the transmission coefficient of superlattices (SL's) in intentional correlated disorder. We have specially investigated the effect of aluminum concentration on the laser wavelength. We discuss the impact of the aluminum concentration associated with the structure profile on the laser wavelengths.

Keywords: superlattices, transfer matrix method, transmission coefficient, quantum laser

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Authors: Suantak Demkhosei Vaiphei

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Mental illness is still considered as an illness not to be treated, resulting India becoming the most depressed country in the world. At present, 150 million Indians are suffering from mental illness and desperately in need of immediate care assessment for their mental health condition. However, only 0.06 per cent of India’s health budget is devoted to mental health treatment, in which the available data suggests that the state of spending the sanctioned budget in this regard is abysmal. Lack of awareness, ignorance, social stigma, and discriminations becomes the underlying factors for worsening the individual mental health conditions. Unfortunately, India becomes the most depressed country in the world, which is hugely affected by anxiety, schizophrenia, and bipolar disorder followed by China and USA as per the latest World Health Organization report. The National Care of Medical Health stated that at least 6.5 per cent of the Indian populations are under serious mental disorder both in the rural and the urban areas’Mental health is the integral part of health and can be affected by a range of psychosocial-economic factors that need comprehensive strategically approach for promotion, prevention, treatment, and recovery. In a low- and middle-income country like India, the advance progress in mental health service is visible consistently slow and minimal. Some of the major barriers can be seen in the existing public health priorities and its influence on funding; challenges to delivery of basic mental health care in the primary care settings; the minimal numbers of well-trained professionals in the area of mental health care; and lack of mental health perspective in public-health leadership. The existing barriers according to WHO (2007) are; lack of funding for mental health services is the core barrier in implementing quality mental health services, including inadequate coordinated and consensus based national mental health advocacy and plans, the absence of mental health in major donor priorities, marketing of expensive pharmaceuticals by industry, cost-effectiveness information on mental health services that is unknown to senior decision-makers and social stigma among others. Moreover, lack of strong mental health advocacy in countries to increase resources for mental health services and the role of social stigma and the view that mental health is a private responsibility are also the two barriers to mental health.

Keywords: mental health, depression, stigma, barriers

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Authors: Ana Rita Conde, Pilar Mota, Tânia Botelho, Carlos Rodrigues, Osvaldo Silva, Áurea Sousa, Suzana Caldeira, Isabel Rego, Jéssica Pacheco

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Families with children with ASD are interested in traveling but end up not traveling due to the obstacles they face and not finding inclusive traveling offers. This study will identify the needs of families with children with ASD, to develop the products targeted to their tourist needs. 137 families from different countries answered a questionnaire about their travel experiences, needs and preferences. Based on the results, guidelines are presented for the development of products specially aimed for this market niche.

Keywords: inclusive tourism, sustainability, autism spectrum disorder, children, families

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Authors: I. Kade Wiratama

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As a result of the significant growth of wind turbines in size, blade load control has become the main challenge for large wind turbines. Many advanced techniques have been investigated aiming at developing control devices to ease blade loading. Amongst them, trailing edge flaps have been proven as effective devices for load alleviation. The present study aims at investigating the potential benefits of flaps in enhancing the energy capture capabilities rather than blade load alleviation. A software tool is especially developed for the aerodynamic simulation of wind turbines utilising blades equipped with flaps. As part of the aerodynamic simulation of these wind turbines, the control system must be also simulated. The simulation of the control system is carried out via solving an optimisation problem which gives the best value for the controlling parameter at each wind turbine run condition. Developing a genetic algorithm optimisation tool which is especially designed for wind turbine blades and integrating it with the aerodynamic performance evaluator, a design optimisation tool for blades equipped with flaps is constructed. The design optimisation tool is employed to carry out design case studies. The results of design case studies on wind turbine AWT 27 reveal that, as expected, the location of flap is a key parameter influencing the amount of improvement in the power extraction. The best location for placing a flap is at about 70% of the blade span from the root of the blade. The size of the flap has also significant effect on the amount of enhancement in the average power. This effect, however, reduces dramatically as the size increases. For constant speed rotors, adding flaps without re-designing the topology of the blade can improve the power extraction capability as high as of about 5%. However, with re-designing the blade pretwist the overall improvement can be reached as high as 12%.

Keywords: flaps, design blade, optimisation, simulation, genetic algorithm, WTAero

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Authors: Mohaammad Ahmadpanah, Amineh Akhondi, Mohammad Haghighi, Ali Ghaleiha, Leila Jahangard, Elham Salari

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Background: Working memory includes the capability to keep and manipulate information in a short period of time. This capability is the basis of complicated judgments and has been attended to as the specific and constant character of individuals. Children with attention deficit and hyperactivity are among the people suffering from deficiency in the active memory, and this deficiency has been attributed to the problem of frontal lobe. This study utilizes a new approach with suitable tasks and methods for training active memory and assessment of the effects of the trainings. Participants: The children participating in this study were of 7-15 year age, who were diagnosed by the psychiatrist and psychologist as hyperactive and attention deficit based on DSM-IV criteria. The intervention group was consisted of 8 boys and 6 girls with the average age of 11 years and standard deviation of 2, and the control group was consisted of 2 girls and 5 boys with an average age of 11.4 and standard deviation of 3. Three children in the test group and two in the control group were under medicinal therapy. Results: Working memory training meaningfully improved the performance in not-trained areas as visual-spatial working memory as well as the performance in Raven progressive tests which are a perfect example of non-verbal, complicated reasoning tasks. In addition, motional activities – measured based on the number of head movements during computerized measuring program – was meaningfully reduced in the medication group. The results of the second test showed that training similar exercise to teenagers and adults results in the improvement of cognition functions, as in hyperactive people. Discussion: The results of this study showed that the performance of working memory is improved through training, and these trainings are extended and generalized in other areas of cognition functions not receiving any training. Trainings resulted in the improvement of performance in the tasks related to prefrontal. They had also a positive and meaningful impact on the moving activities of hyperactive children.

Keywords: attention deficit hyperactivity disorder, working memory, non-medical treatment, children

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Authors: K. Cartelier, D. Aime, V. Vernoud, J. Buitink, J. M. Prosperi, K. Gallardo, C. Le Signor

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Legumes can produce protein-rich seeds without nitrogen fertilizer through root symbiosis with nitrogen-fixing rhizobia. Rich in lysine, these proteins are used for human nutrition and animal feed. However, the instability of seed protein yield and quality due to environmental fluctuations limits the wider use of legumes such as pea. Breeding efforts are needed to optimize and stabilize seed nutritional value, which requires to identify the genetic determinism of seed protein plasticity in response to the environment. Towards this goal, we have studied the plasticity of protein content and composition of seeds from a collection of 200 Medicago truncatula ecotypes grown under four controlled conditions (optimal, drought, and winter/spring sowing). A quantitative analysis of one-dimensional protein profiles of these mature seeds was performed and plasticity indices were calculated from each abundant protein band. Genome-Wide Association Studies (GWAS) from these data identified major GWAS hotspots, from which a list of candidate genes was obtained. A Gene Ontology Enrichment Analysis revealed an over-representation of genes involved in several amino acid metabolic pathways. This led us to propose that environmental variations are likely to modulate amino acid balance, thus impacting seed protein composition. The selection of candidate genes for controlling the plasticity of seed protein composition was refined using transcriptomics data from developing Medicago truncatula seeds. The pea orthologs of key genes were identified for functional studies by mean of TILLING (Targeting Induced Local Lesions in Genomes) lines in this crop. We will present how this study highlighted mechanisms that could govern seed protein plasticity, providing new cues towards the stabilization of legume seed quality.

Keywords: GWAS, Medicago truncatula, plasticity, seed, storage proteins

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Authors: Rohit Kothari, Muneer Mohamed, Vivekanandh K., Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar

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Introduction: Hyper-IgE syndrome is a rare primary immunodeficiency syndrome characterised by triad of severe atopic dermatitis, recurrent pulmonary infections, and recurrent staphylococcal skin infections. The diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum-IgE levels, which may be seen in multiple conditions. Genetic studies are not always possible in a resource poor setting. This study highlights various presentations of Hyper-IgE syndrome in skin of color children. Case-series: Our study had six children of Hyper-IgE syndrome aged twomonths to tenyears. All had onset in first ten months of life except one with a late-onset at two years. All had recurrent eczematoid rash, which responded poorly to conventional treatment, secondary infection, multiple episodes of hospitalisation for pulmonary infection, and raised serum IgE levels. One case had occasional vesicles, bullae, and crusted plaques over both the extremities. Genetic study was possible in only one of them who was found to have pathogenic homozygous deletions of exon-15 to 18 in DOCK8 gene following which he underwent bone marrow transplant (BMT), however, succumbed to lower respiratory tract infection two months after BMT and rest of them received multiple courses of antibiotics, oral/ topical steroids, and cyclosporine intermittently with variable response. Discussion: Our study highlights various characteristics, presentation, and management of this rare syndrome in children. Knowledge of these manifestations in skin of color will facilitate early identification and contribute to optimal care of the patients as representative data on the same is limited in literature.

Keywords: absolute eosinophil count, atopic dermatitis, eczematous rash, hyper-immunoglobulin E syndrome, pulmonary infection, serum IgE, skin of color

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Authors: Mengjie Qu, Yi Wang, Jiawei Ding, Siyu Chen, Yanan Di

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Marine ecosystem is facing intensified multiple stresses caused by environmental contaminants from human activities. Xenobiotics, such as benzo(α)pyrene (BaP) have been discharged into marine environment and cause hazardous impacts on both marine organisms and human beings. As a filter-feeder, marine mussels, Mytilus spp., has been extensively used to monitor the marine environment. However, their genomic alterations induced by such xenobiotics are still kept unknown. In the present study, gills, as the first defense barrier in mussels, were selected to evaluate the genetic instability alterations induced by the exposure to BaP both in vivo and in vitro. Both random amplified polymorphic DNA (RAPD) assay and comet assay were applied as the rapid tools to assess the environmental stresses due to their low money- and time-consumption. All mussels were identified to be the single species of Mytilus coruscus before used in BaP exposure at the concentration of 56 μg/l for 1 & 3 days (in vivo exposure) or 1 & 3 hours (in vitro). Both RAPD and comet assay results were showed significantly increased genomic instability with time-specific altering pattern. After the recovery period in 'in vivo' exposure, the genomic status was as same as control condition. However, the relative higher genomic instabilities were still observed in gill cells after the recovery from in vitro exposure condition. Different repair mechanisms or signaling pathway might be involved in the isolated gill cells in the comparison with intact tissues. The study provides the robust and rapid techniques to exam the genomic stability in marine organisms in response to marine environmental changes and provide basic information for further mechanism research in stress responses in marine organisms.

Keywords: genotoxic impacts, in vivo/vitro exposure, marine mussels, RAPD and comet assay

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Authors: N. R. Prasannakumar, M. N. Maruthi

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The whitefly, Bemisia tabaci (Gennadius) (Hemiptera; Aleyrodidae) is a highly polyphagous pest reported to infest over 600 plant hosts globally. About 42 genetic groups/cryptic species of B. tabaci exist in the world on different hosts. The species have variable behaviour with respect to feeding, development and transmission of viral diseases. Feeding on diverse host plants affect both whitefly development and the population of the endosymbionts harboured by the insects. Due to changes in the level of endosymbionts, the virus transmission efficiency by the vector also gets affected. We investigated these interactions on five host plants – egg plant, tomato, beans, okra and cotton - using a single whitefly species Asia 1 infected with three different bacteria Portiera, Wolbachia and Arsenophonus. The Asia 1 transmits the Tomato leaf curl Bangalore virus (ToLCBV) effectively and thus was used in the interaction studies. We found a significant impact of hosts on whitefly growth and development; eggplant was most favourable host, while okra and tomato were least favourable. Among the endosymbiotic bacteria, the titre of Wolbachia was significantly affected by feeding of B. tabaci on different host plants whereas Arsenophonus and Portiera were unaffected. When whitefly fed on ToLCBV-infected tomato plants, the Arsenophonus population was significantly increased, indicating its previously confirmed role in ToLCBV transmission. Further, screening of total proteins of B. tabaci Asia 1 genetic group interacting with ToLCBV coat protein was carried out using Y2H system. Some of the proteins found to be interacting with ToLCBV CP were HSPs 70kDa, GroEL, nucleoproteins, vitellogenins, apolipophorins, lachesins, enolase. The reported protein thus would be the potential targets for novel whitefly control strategies such as RNAi or novel insecticide target sites for sustainable whitefly management after confirmation of genuine proteins.

Keywords: cDNA, whitefly, ToLCBV, endosymbionts, Y2H

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Authors: Ahmed Elbeltagy, Francesca Bertolini, Damarius Fleming, Angelica Van Goor, Chris Ashwell, Carl Schmidt, Donald Kugonza, Susan Lamont, Max Rothschild

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The major factor in shaping genomic variation of the African indigenous rural chicken is likely natural selection drives the development genetic footprints in the chicken genomes. To investigate such a hypothesis of a selection footprint, a total of 292 birds were randomly sampled from three indigenous ecotypes from East Africa (Uganda, Rwanda) and North Africa (Egypt) and two registered Egyptian breeds (Fayoumi and Dandarawi), and from the synthetic Kuroiler breed. Samples were genotyped using the Affymetrix 600K Axiom® Array. A total of 526,652 SNPs were utilized in the downstream analysis after quality control measures. The intra-population runs of homozygosity (ROH) that were consensuses in > 50% of individuals of an ecotype or > 75% of a breed were studied. To identify inter-population differentiation due to genetic structure, FST was calculated for North- vs. East- African populations in addition to population-pairwise combinations for overlapping windows (500Kb with an overlap of 250Kb). A total of 28,563 ROH were determined and were classified into three length categories. ROH and Fst detected sweeps were identified on several autosomes. Several genes in these regions are likely to be related to adaptation to local environmental stresses that include high altitude, diseases resistance, poor nutrition, oxidative and heat stresses and were linked to gene ontology terms (GO) related to immune response, oxygen consumption and heme binding, carbohydrate metabolism, oxidation-reduction, and behavior. Results indicated a possible effect of natural selection forces on shaping genomic structure for adaptation to local environmental stresses.

Keywords: African Chicken, runs of homozygosity, FST, selection footprints

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Authors: Vinod Kumar Gupta, Narendrakumar M. Chaudhari, Suchismitha Iskepalli, Chitra Dutta

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Background-The community composition of the human microbiome is known to vary at distinct anatomical niches. But little is known about the nature of variations if any, at the genome/sub-genome levels of a specific microbial community across different niches. The present report aims to explore, as a case study, the variations in gene repertoire of 28 Prevotella reference draft genomes derived from different body-sites of human, as reported earlier by the Human Microbiome Consortium. Results-The analysis reveals the exclusive presence of 11798, 3673, 3348 and 934 gene families and exclusive absence of 17, 221, 115 and 645 gene families in Prevotella genomes derived from the human oral cavity, gastro-intestinal tracts (GIT), urogenital tract (UGT) and skin, respectively. The pan-genome for Prevotella remains “open”. Distribution of various functional COG categories differs appreciably among the habitat-specific genes, within Prevotella pan-genome and between the GIT-derived Bacteroides and Prevotella. The skin and GIT isolates of Prevotella are enriched in singletons involved in Signal transduction mechanisms, while the UGT and oral isolates show higher representation of the Defense mechanisms category. No niche-specific variations could be observed in the distribution of KEGG pathways. Conclusion-Prevotella may have developed distinct genetic strategies for adaptation to different anatomical habitats through selective, niche-specific acquisition and elimination of suitable gene-families. In addition, individual microorganisms tend to develop their own distinctive adaptive stratagems through large repertoires of singletons. Such in situ, habitat-driven refurbishment of the genetic makeup can impart substantial intra-lineage genome diversity within the microbes without perturbing their general taxonomic heritage.

Keywords: body niche adaptation, human microbiome, pangenome, Prevotella

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Authors: Behrang Ekrami, Amin Tamadon, Iman Razeghian Jahromi, Darioush Moghadas, Mehdi Ghahremani-Seno, Mostafa Ghaderi-Zefrehei, Ahmad Sodagar Amiri, Taheri Reza

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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, genetic analysis, spermatozoa, reproductive characteristics

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Authors: Nicole Scott, Emily Dwyer, Cara Patrissy, Samantha Bonventre, Lina Begdache

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Across North America, the use and abuse of Attention Deficit Hyperactivity Disorder (ADHD) medication, cannabis, nicotine, and other psychoactive substances across college campuses have become an increasingly prevalent problem. Students frequently use these substances to aid their studying or deal with their mental health issues. However, it is still unknown what psychoactive substances are likely to be abused when college students illicitly use ADHD medication. In addition, it is not clear which psychoactive substance is associated with mental distress. Thus, the purpose of this study is to fill these gaps by assessing the use of different psychoactive substances when illicit ADHD medication is used; and how this association relates to mental stress. A total of 702 undergraduate students from different college campuses in the U.S. completed an anonymous survey distributed online. Data were self-reported on demographics, the use of ADHD medications, cannabis, nicotine, other psychoactive drugs, and mental distress, and feelings and opinions on the use of illicit study drugs were all included in the survey. Mental distress was assessed using the Kessler Psychological Distress 6 Scale. Data were analyzed in SPSS, Version 25.0, using Pearson’s Correlation Coefficient. Our results show that use of ADHD medication, cannabis use (non-frequent and very frequent), and nicotine use (non-frequent and very frequent), there were both statistically significant positive and negative correlations to specific psychoactive substances and their corresponding frequencies. Along the same lines, ADHD medication, cannabis use (non-frequent and very frequent), and nicotine use (non-frequent and very frequent) had statistically significant positive and negative correlations to specific mental distress experiences. As these findings are combined, a vicious loop can initiate a cycle where individuals who abuse psychoactive substances may or may not be inclined to use other psychoactive substances. This may later inhibit brain functions in those main areas of the brain stem, amygdala, and prefrontal cortex where this vicious cycle may or may not impact their mental distress. Addressing the impact of study drug abuse and its potential to be associated with further substance abuse may provide an educational framework and support proactive approaches to promote awareness among college students.

Keywords: stimulant, depressant, nicotine, ADHD medication, psychoactive substances, mental health, illicit, ecstasy, adrenochrome

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Authors: Tomohiko Utsuki

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Currently, brain resuscitation becomes increasingly important due to revising various clinical guidelines pertinent to emergency care. In brain resuscitation, the control of brain temperature (BT), intracranial pressure (ICP), and cerebral blood flow (CBF) is required for stabilizing physiological state of brain, and is described as the essential treatment points in many guidelines of disorder and/or disease such as brain injury, stroke, and encephalopathy. Thus, an integrated control system of BT, ICP, and CBF will greatly contribute to alleviating the burden on medical staff and improving treatment effect in brain resuscitation. In order to develop such a control system, models related to BT, ICP, and CBF are required for control simulation, because trial and error experiments using patients are not ethically allowed. A static model of cerebral blood circulation from intracranial arteries and vertebral artery to jugular veins has already constructed and verified. However, it is impossible to represent the pooling of blood in blood vessels, which is one cause of cerebral hypertension in this model. And, it is also impossible to represent the pulsing motion of blood vessels caused by blood pressure change which can have an affect on the change of cerebral tissue pressure. Thus, a dynamic model of cerebral blood circulation is constructed in consideration of the elasticity of the blood vessel and the inertia of the blood vessel wall. The constructed dynamic model was numerically analyzed using the normal data, in which each arterial blood flow in cerebral blood circulation, the distribution of blood pressure in the Circle of Willis, and the change of blood pressure along blood flow were calculated for verifying against physiological knowledge. As the result, because each calculated numerical value falling within the generally known normal range, this model has no problem in representing at least the normal physiological state of the brain. It is the next task to verify the accuracy of the present model in the case of disease or disorder. Currently, the construction of a migration model of extracellular fluid and a model of heat transfer in cerebral tissue are in progress for making them parts of an integrated model of brain physiological state, which is necessary for developing an future integrated control system of BT, ICP and CBF. The present model is applicable to constructing the integrated model representing at least the normal condition of brain physiological state by uniting with such models.

Keywords: dynamic model, cerebral blood circulation, brain resuscitation, automatic control

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Authors: Quyen Vu Dang Ha, Oanh Truong Thi, Thuoc Tran Linh, Kent Carpenter, Thinh Doan Vu, Binh Dang Thuy

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Enzyme restriction site associated DNA (EzRAD) has recently emerged as a promising genomic approach for exploring fish genetic diversity on a genome-wide scale. This is a simplified method for genomic genotyping in non-model organisms and applied for SNPs discovery in the population genetics of freshwater and marine fish in the South of Vietnam. The observations of regional-scale differentiation of commercial freshwater fish (smallscale croakers Boesemania microlepis) and marine fish (emperor Lethrinus lentjan) are clarified. Samples were collected along Hau River and coastal area in the south and center Vietnam. 52 DNA samples from Tra Vinh, An Giang Province for Boesemania microlepis and 34 DNA samples of Lethrinus lentjan from Phu Quoc, Nha Trang, Da Nang Province were used to prepare EzRAD libraries from genomic DNA digested with MboI and Sau3AI. A pooled sample of regional EzRAD libraries was sequenced using the HiSeq 2500 Illumina platform. For Boesemania microlepis, the small scale population different from upstream to downstream of Hau river were detected, An Giang population exhibited less genetic diversity (SNPs per individual from 14 to 926), in comparison to Tra Vinh population (from 11 to 2172). For Lethrinus lentjan, the result showed the minor difference between populations in the Northern and the Southern Mekong River. The numbers of contigs and SNPs vary from 1315 to 2455 and from 7122 to 8594, respectively (P ≤ 0.01). The current preliminary study reveals regional scale population disconnection probably reflecting environmental changing. Additional sampling and EzRad libraries need to be implemented for resource management in the Mekong Delta.

Keywords: Boesemania microlepis, EzRAD, Lethrinus lentjan, SNPs

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Authors: Yuzhen Hu, Sirui Wang

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As a training base for intellectual talents, universities have a large number of students. Teaching is a primary activity in universities, and during the teaching process, a large number of people gather both inside and outside the teaching buildings, posing a strong risk of close contact. The class schedule is the fundamental basis for teaching activities in universities and plays a crucial role in the management of teaching order. Different class schedules can lead to varying degrees of indoor gatherings and trajectories of class attendees. In recent years, highly contagious diseases have frequently occurred worldwide, and how to reduce the risk of infection has always been a hot issue related to public safety. "Reducing gatherings" is one of the core measures in epidemic prevention and control, and it can be controlled through scientific scheduling in specific environments. Therefore, the scientific prevention and control goal can be achieved by considering the reduction of the risk of excessive gathering of people during the course schedule arrangement. Firstly, we address the issue of personnel gathering in various pathways on campus, with the goal of minimizing congestion and maximizing teaching effectiveness, establishing a nonlinear mathematical model. Next, we design an improved genetic algorithm, incorporating real-time evacuation operations based on tracking search and multidimensional positive gradient cross-mutation operations, considering the characteristics of outdoor crowd evacuation. Finally, we apply undergraduate course data from a university in Harbin to conduct a case study. It compares and analyzes the effects of algorithm improvement and optimization of gathering situations and explores the impact of path blocking on the degree of gathering of individuals on other pathways.

Keywords: the university timetabling problem, risk prevention, genetic algorithm, risk control

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Authors: Andrea Bertocchi, Alessio Barnaba Di Fonzo, Davide Talarico, Simone Rivaroli, Jeff Konin

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The patient is a 89 years old male (180cm/85kg) retired notary former golfer with no past medical history. He describes a progressive ideomotor slowdown for 14 months. The disorder is characterized by short-term memory deficits and, for some months, also by unstable walking with a broad base with skidding and risk of falling at directional changes and urinary urgency. There were also episodes of aggression towards his wife and staff. At the time, the patient takes no prescribed medications. He has difficulty eating, dressing, and some problems with personal hygiene. In the initial visit, the patient was alert, cooperating, and performed simple tasks; however, he has a hearing impairment, slowed spontaneous speech, and amnestic deficit to the short story. Ideomotor apraxia is not present. He scored 20 points in the MMSE. From a motor function, he has deficits using Medical Research Council (MRC) 3-/5 in bilateral lower limbs and requires maximum assistance from sit to stand with existing premature fatigue. He’s unable to walk for about 1 month. Tremors and hypertonia are absent. BERG was unable to be administered, and BARTHEL was obtained 45/100. An Amyloid Angiopathy is suspected and then confirmed at the neurological examination. Therehabilitation objectives were the recovery of mobility and reinforcement of the UE/LE, especially legs, for recovery of standing and walking. The cognitive aspect was also an essential factor for the patient's recovery. The literature doesn’t demonstrate any particular studies regarding motor and cognitive rehabilitation on this pathology. Failing to manage his attention on exercise and tending to be disinterested and falling asleep constantly, we used golf-specific gestures to stimulate his mind to work and get results because the patient has memory recall of golf related movement. We worked for 4 months with a frequency of 3 sessions per week. Every session lasted for 45 minutes. After 4 months of work, the patient walked independently with the use of a stick for about 120 meters without stopping. MRC 4/5 AI bilaterally andpostural steps performed independently with supervision. BERG 36/56. BARTHEL 65/100. 6 Minutes Walking Test (6MWT), at the beginning, it wasn’t measurable, now, he performs 151,5m with Numeric Rating Scale 4 at the beginning and 7 at the end. Cognitively, he no longer has episodes of aggression, although the short-term memory and concentration deficit remains. Amyloid Angiopathy is a mix of motor and cognitive disorder. It is worth the thought that cerebral amyloid angiopathy manifests with functional deficits due to strokes and bleedings and, as such, has an important rehabilitation indication, as classical stroke is not associated with amyloidosis. Exploring the motor patterns learned at a young age and remained in the implicit and explicit memory of the patient allowed us to set up effective work and to obtain significant results in the short-middle term. Surely many studies will still be done regarding this pathology and its rehabilitation, but the importance of the cognitive sphere applied to the motor sphere could represent an important starting point.

Keywords: amyloid angiopathy, cognitive rehabilitation, golf, motor disorder

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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

Abstract:

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: Mahmoud B. Rokaya

Abstract:

The study of opinion mining and sentiment analysis includes analysis of opinions, sentiments, evaluations, attitudes, and emotions. The rapid growth of social media, social networks, reviews, forum discussions, microblogs, and Twitter, leads to a parallel growth in the field of sentiment analysis. The field of sentiment analysis tries to develop effective tools to make it possible to capture the trends of people. There are two approaches in the field, lexicon-based and corpus-based methods. A lexicon-based method uses a sentiment lexicon which includes sentiment words and phrases with assigned numeric scores. These scores reveal if sentiment phrases are positive or negative, their intensity, and/or their emotional orientations. Creation of manual lexicons is hard. This brings the need for adaptive automated methods for generating a lexicon. The proposed method generates dynamic lexicons based on the corpus and then classifies text using these lexicons. In the proposed method, different approaches are combined to generate lexicons from text. The proposed method classifies the tweets into 5 classes instead of +ve or –ve classes. The sentiment classification problem is written as an optimization problem, finding optimum sentiment lexicons are the goal of the optimization process. The solution was produced based on mathematical programming approaches to find the best lexicon to classify texts. A genetic algorithm was written to find the optimal lexicon. Then, extraction of a meta-level feature was done based on the optimal lexicon. The experiments were conducted on several datasets. Results, in terms of accuracy, recall and F measure, outperformed the state-of-the-art methods proposed in the literature in some of the datasets. A better understanding of the Arabic language and culture of Arab Twitter users and sentiment orientation of words in different contexts can be achieved based on the sentiment lexicons proposed by the algorithm.

Keywords: social media, Twitter sentiment, sentiment analysis, lexicon, genetic algorithm, evolutionary computation

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Authors: Annelyn Fatima Lopez, Ermenilda Avendano, Aileen Marie Vargas, Lara Baylon, Rorilee Angeles

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BACKGROUND: The COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact psychosocial and environmental aspects of vulnerable populations. OBJECTIVES: This study intended to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing coronavirus pandemic. METHODOLOGY: Parents of patients seen in the PCMC Neurodevelopmental Pediatrics OPD clinic were recruited to fill out questionnaires on parent and child characteristics, survey on situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life. RESULTS: Data from 115 respondents showed a lower score in the environmental domain. The child characteristics that are statistically comparable with the QoL scores include sex, severity of ID and ADHD while the parent characteristics that are statistically comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported physical distancing (82.61%) and curfew (80.87%) as measures implemented due to the pandemic. Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government responses received include quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%). Concerns encountered include socio-environmental issues (i.e. no available transportation, effect on the ability to earn, inadequate food/medicine rations, disruptions in basic social services) and patient concerns (i.e. access to education, medical, developmental and behavioral services, nutrition and sleep). RECOMMENDATIONS: Programs and policies should be planned accordingly to provide improvement of quality of life for both parents and the child with a neurodevelopmental disorder.

Keywords: covid-19, neurodevelopmental disorder, parental quality of life, whoqol-bref

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Authors: Samson Abayomi Olasoju, Olufemi Adekunle, Titilope Edun, Johnson Owoseni

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Science offers opportunities for revolutionizing human activities, enriched by input from scientific research and technology. Biotechnology is a major force for development in developing countries such as Nigeria. It is found to contribute to solving human problems like water and food insecurity that impede national development and threaten peace wherever it is applied. This review identified the problems of agricultural biotechnology in Nigeria. On the part of rural farmers, there is a lack of adequate knowledge or awareness of biotechnology despite the fact that they constitute the bulk of Nigerian farmers. On part of the government, the problems include: lack of adequate implementation of government policy on bio-safety and genetically modified products, inadequate funding of education as well as research and development of products related to biotechnology. Other problems include: inadequate infrastructures (including laboratory), poor funding and lack of national strategies needed for development and running of agricultural biotechnology. In spite of all the challenges associated with agricultural biotechnology, its prospects still remain great if Nigeria is to meet with the food needs of the country’s ever increasing population. The introduction of genetically engineered products will lead to the high productivity needed for commercialization and food security. Insect, virus and other related diseases resistant crops and livestock are another viable area of contribution of biotechnology to agricultural production. In conclusion, agricultural biotechnology will not only ensure food security, but, in addition, will ensure that the local farmers utilize appropriate technology needed for large production, leading to the prosperity of the farmers and national economic growth, provided government plays its role of adequate funding and good policy implementation.

Keywords: biosafety, biotechnology, food security, genetic engineering, genetic modification

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Authors: Othman E. Othman, Agnés Germot, Daniel Petit, Abderrahman Maftah

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Threats to the biodiversity are increasing due to the loss of genetic diversity within the species utilized in agriculture. Due to the progressive substitution of the less productive, locally adapted and native breeds by highly productive breeds, the number of threatened breeds is increased. In these conditions, it is more strategically important than ever to preserve as much the farm animal diversity as possible, to ensure a prompt and proper response to the needs of future generations. Mitochondrial (mtDNA) sequencing has been used to explain the origins of many modern domestic livestock species. Studies based on sequencing of sheep mitochondrial DNA showed that there are five maternal lineages in the world for domestic sheep breeds; A, B, C, D and E. Because of the eastern location of Egypt in the Mediterranean basin and the presence of fat-tailed sheep breeds- character quite common in Turkey and Syria- where genotypes that seem quite primitive, the phylogenetic studies of Egyptian sheep breeds become particularly attractive. We aimed in this work to clarify the genetic affinities, biodiversity and phylogeny of five Egyptian sheep breeds using cytochrome B sequencing. Blood samples were collected from 63 animals belonging to the five tested breeds; Barki, Rahmani, Ossimi, Saidi and Sohagi. The total DNA was extracted and the specific primer allowed the conventional PCR amplification of the cytochrome B region of mtDNA (approximately 1272 bp). PCR amplified products were purified and sequenced. The alignment of Sixty-three samples was done using BioEdit software. DnaSP 5.00 software was used to identify the sequence variation and polymorphic sites in the aligned sequences. The result showed that the presence of 34 polymorphic sites leading to the formation of 18 haplotypes. The haplotype diversity in five tested breeds ranged from 0.676 in Rahmani breed to 0.894 in Sohagi breed. The genetic distances (D) and the average number of pairwise differences (Dxy) between breeds were estimated. The lowest distance was observed between Rahmani and Saidi (D: 1.674 and Dxy: 0.00150) while the highest distance was observed between Ossimi and Sohagi (D: 5.233 and Dxy: 0.00475). Neighbour-joining (Phylogeny) tree was constructed using Mega 5.0 software. The sequences of the 63 analyzed samples were aligned with references sequences of different haplogroups. The phylogeny result showed the presence of three haplogroups (HapA, HapB and HapC) in the 63 examined samples. The other two haplogroups described in literature (HapD and HapE) were not found. The result showed that 50 out of 63 tested animals cluster with haplogroup B (79.37%) whereas 7 tested animals cluster with haplogroup A (11.11%) and 6 animals cluster with haplogroup C (9.52%). In conclusion, the phylogenetic reconstructions showed that the majority of Egyptian sheep breeds belonging to haplogroup B which is the dominant haplogroup in Eastern Mediterranean countries like Syria and Turkey. Some individuals are belonging to haplogroups A and C, suggesting that the crosses were done with other breeds for characteristic selection for growth and wool quality.

Keywords: cytochrome B, diversity, phylogheny, Egyptian sheep breeds

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Authors: Colin David La Grange, Lisa Frost Ramsay

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Hydrogen sulphide (H2S) is a minor component of landfill gas, but significant in its distinct odorous quality and its association with landfill-related community complaints. The World Health Organisation (WHO) provides two guidelines for H2S: a health guideline at 150 µg/m3 on a 24-hour average, and a nuisance guideline at 7 µg/m3 on a 30-minute average. Albeit a practical distinction for impact assessment, this paper highlights the danger of the apparent dualism between nuisance and health impact, particularly when it is used to dismiss community concerns of perceived health impacts at low concentrations of H2S, as in the case of a community battle against the impacts of a landfill in Shongweni, KwaZulu-Natal, South Africa. Here community members reported, using a community developed mobile phone application, a range of health symptoms that coincided with, or occurred subsequent to, odour events and localised H2S peaks. Local doctors also documented increased visits for symptoms of respiratory distress, eye and skin irritation, and stress after such odour events. Objectively measured H2S and other pollutant concentrations during these events, however, remained below WHO health guidelines. This case study highlights the importance of the physiological link between the experience of environmental nuisance and overall health and wellbeing, showing these to be less distinct than the WHO guidelines would suggest. The potential mechanisms of impact of an odorous plume, with key constituents at concentrations below traditional health thresholds, on psychologically and/or physiologically sensitised individuals are described. In the case of psychological sensitisation, previously documented mechanisms such as aversive conditioning and odour-triggered panic are relevant. Physiological sensitisation to environmental pollutants, evident as a seemingly disproportionate physical (allergy-type) response to either low concentrations or a short duration exposure of a toxin or toxins, remains extensively examined but still not well understood. The links between a heightened sensitivity to toxic compounds, accumulation of some compounds in the body, and a pre-existing or associated immunological stress disorder are presented as a possible explanation.

Keywords: immunological stress disorder, landfill odour, odour nuisance, odour sensitisation, toxin accumulation

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Authors: Fathimath Warda, Mariyam Nihaadh

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Students with Special Education Needs (SEN) are increasing in the Maldives, like anywhere else in the world, due to the changes in lifestyle of the people and ease of being diagnosed with advancements in medical health. With the growth in the population of these students, the demand for professionals in various fields is unmet. Thus, with the introduction of the Inclusive Education Policy in 2013, all students are educated in the same classroom by the regular teacher. This poses problems as the teachers are not well trained and qualified to meet the varying needs of the students, given the limited time and the large number of students in the classroom. This is a major concern for all stakeholders in the education sector and research has been conducted by various local scholars in this area. However, studies on the role of parents of such students is an area that remains yet to be explored in the Maldives, which makes a study of this nature crucial. The main aim of this study is to determine the ways in which the education provided to Special Needs Students can be maximized for a better outcome. Therefore, the study intends to understand the involvement of parents in providing education to special needs students from the teachers' perspectives. The basis for this study is the Parent Development Theory developed by Mowder, which was initially known as Parent Role Development Theory. A qualitative research has thus been utilised for the purpose of the study as it requires to find the beliefs and attitudes of teachers, along with relevant justifications regarding the role of parents in educating students with special needs. Data was gathered using one-to-one interviews, as it is one of the most reliable ways of getting meaningful and in-depth data. The study employs a total of 8 participants who are teachers teaching in inclusive classes where students with special needs are included. Emphasis was paid to select teachers who have the experience of teaching students with different disorders commonly found in the Maldives, namely in the four areas, Autism Spectrum Disorder, Down Syndrome, Attention Deficit Hyperactive Disorder and speech impairment. Hence, purposive sampling will be used to select the participants. Data analysis has been done using thematic coding. The findings revealed that teachers highlighted that parents' involvement was a key factor in ensuring success of education in children with special needs. Thus, the study concludes that the role of parents as a necessary input for the proper development of children and in educating children with special needs, suggesting that extra measures have to be taken develop a positive relationship between teachers and parents in order to strengthen this aspect.

Keywords: involvement, parents' role, special education needs, teachers' voice

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Authors: Joanna Estkowska

Abstract:

The Sensory Integration Method is aimed primarily at children with learning disabilities. It can also be used as a complementary method in treatment of children with cerebral palsy, autistic, mentally handicapped, blind and deaf. Autism is holistic development disorder that manifests itself in the specific functioning of a child. The most characteristic are: disorders in communication, difficulties in social relations, rigid patterns of behavior and impairment in sensory processing. In addition to these disorders may occur abnormal intellectual development, attention deficit disorders, perceptual disorders and others. This study was focused on the application sensory integration techniques in science education of autistic students. The lack of proper sensory integration causes problems with complicated processes such as motor coordination, movement planning, visual or auditory perception, speech, writing, reading or counting. Good functioning and cooperation of proprioceptive, tactile and vestibular sense affect the child’s mastery of skills that require coordination of both sides of the body and synchronization of the cerebral hemispheres. These include, for example, all sports activities, precise manual skills such writing, as well as, reading and counting skills. All this takes place in stages. Achieving skills from the first stage determines the development of fitness from the next level. Any deficit in the scope of the first three stages can affect the development of new skills. This ultimately reflects on the achievements at school and in further professional and personal life. After careful analysis symptoms from the emotional and social spheres appear to be secondary to deficits of sensory integration. During our research, the students gained knowledge and skills in the classroom of experience by learning biology, chemistry and physics with application sensory integration techniques. Sensory integration therapy aims to teach the child an adequate response to stimuli coming to him from both the outside world and the body. Thanks to properly selected exercises, a child can improve perception and interpretation skills, motor skills, coordination of movements, attention and concentration or self-awareness, as well as social and emotional functioning.

Keywords: autism spectrum disorder, science education, sensory integration, special educational needs

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Authors: James Ladzekpo

Abstract:

Background: The urgent need to identify new pharmacological targets for diabetes treatment and prevention has been amplified by the disease's extensive impact on individuals and healthcare systems. A deeper insight into the biological underpinnings of diabetes is crucial for the creation of therapeutic strategies aimed at these biological processes. Current predictive models based on genetic variations fall short of accurately forecasting diabetes. Objectives: Our study aims to pinpoint key epigenetic factors that predispose individuals to diabetes. These factors will inform the development of an advanced predictive model that estimates diabetes risk from genetic profiles, utilizing state-of-the-art statistical and data mining methods. Methodology: We have implemented a recursive feature elimination with cross-validation using the support vector machine (SVM) approach for refined feature selection. Building on this, we developed six machine learning models, including logistic regression, k-Nearest Neighbors (k-NN), Naive Bayes, Random Forest, Gradient Boosting, and Multilayer Perceptron Neural Network, to evaluate their performance. Findings: The Gradient Boosting Classifier excelled, achieving a median recall of 92.17% and outstanding metrics such as area under the receiver operating characteristics curve (AUC) with a median of 68%, alongside median accuracy and precision scores of 76%. Through our machine learning analysis, we identified 31 genes significantly associated with diabetes traits, highlighting their potential as biomarkers and targets for diabetes management strategies. Conclusion: Particularly noteworthy were the Gradient Boosting Classifier and Multilayer Perceptron Neural Network, which demonstrated potential in diabetes outcome prediction. We recommend future investigations to incorporate larger cohorts and a wider array of predictive variables to enhance the models' predictive capabilities.

Keywords: diabetes, machine learning, prediction, biomarkers

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Authors: Shivani Sharma, Prashant Saxena, Inamul Hasan Madar

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Since the time of Darwin, it has been considered that genetic change is the direct indicator of variation in phenotype. But a few studies in system biology in the past years have proposed that epigenetic developmental processes also affect the phenotype thus shifting the focus from a linear genotype-phenotype map to a non-linear G-P map. In this paper, we attempt at explaining the evolution of colour vision in mammals by taking LWS/ Long-wave sensitive gene under consideration.

Keywords: evolution, phenotypes, epigenetics, LWS gene, G-P map

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Authors: Fulufhelo Amanda Doboro, Kgomotso Sebeko, Stephen Njiro, Moritz Van Vuuren

Abstract:

Ovine herpesvirus 2 (OvHV-2) genome obtained from the lymphopblastoid cell line of a BJ1035 cow was recently sequenced in the United States of America (USA). Information on the sequences of OvHV-2 genes obtained from South African strains from bovine or other African countries and molecular characterization of OvHV-2 is not documented. Present investigation provides information on the nucleotide and derived amino acid sequences and genetic diversity of Ov 7, Ov 8 ex2, ORF 27 and ORF 73 genes, of these genes from OvHV-2 strains circulating in South Africa. Gene-specific primers were designed and used for PCR of DNA extracted from 42 bovine blood samples that previously tested positive for OvHV-2. The expected PCR products of 495 bp, 253 bp, 890 bp and 1632 bp respectively for Ov 7, Ov 8 ex2, ORF 27 and ORF 73 genes were sequenced and multiple sequence analysis done on the selected regions of the sequenced PCR products. Two genotypes for ORF 27 and ORF 73 gene sequences, and three genotypes for Ov 7 and Ov 8 ex2 gene sequences were identified, and similar groupings for the derived amino acid sequences were obtained for each gene. Nucleotide and amino acid sequence variations that led to the identification of the different genotypes included SNPs, deletions and insertions. Sequence analysis of Ov 7 and ORF 27 genes revealed variations that distinguished between sequences from SA and reference OvHV-2 strains. The implication of geographic origin among SA sequences was difficult to evaluate because of random distribution of genotypes in the different provinces, for each gene. However, socio-economic factors such as migration of people with animals, or transportation of animals for agricultural or business use from one province to another are most likely to be responsible for this observation. The sequence variations observed in this study have no impact on the antibody binding activities of glycoproteins encoded by Ov 7, Ov 8 ex2 and ORF 27 genes, as determined by prediction of the presence of B cell epitopes using BepiPred 1.0. The findings of this study will be used for selection of gene candidates for the development of diagnostic assays and vaccine development as well.

Keywords: amino acid, genetic diversity, genes, nucleotide

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Authors: İsmail Seçer

Abstract:

Although depression and anxiety disorders are considered to be adult disorders, the evidence obtained from several studies conducted recently shows that the roots of depression and anxiety disorders go back to childhood years. Thus, it is thought that analyzing depressive symptoms and anxiety disorders observed in the childhood is an important necessity. In the direction of the problem status of the study, the purpose of this study is to adapt anxiety and depression questionnaire for children into Turkish culture and analyze the psychometric characteristics of it on clinical and nonclinical samples separately. The study is a descriptive survey research. The study was conducted on two different sample groups, clinical and nonclinical. The clinical sample is formed of 205 individuals and the nonclinical sample is formed of 630 individuals. Through the study, anxiety and depression questionnaire for children, anxiety sensitivity index and obsessive compulsive disorder questionnaire for children were used. Experts’ opinions were asked to provide language validity of the scale. Confirmatory factor analysis and criterion-related validity to analyze construct validity and internal consistency and split-half reliability analyses were done for reliability. In the direction of experts’ opinions, construct validity of the scale was analyzed with simple confirmatory factor analysis and it was determined that the model fit of the two-factor structure of the scale gives good fit on both the clinical and nonclinical samples after determining that the language validity of the scale is provided. In criterion-related validity, it was determined that there are positive and significant relations between anxiety and depression questionnaire for children and anxiety sensitivity and obsessive compulsive disorder. The results of internal consistency and half-split reliability analyses also show that the scale has adequate reliability value. It can be said that depression and anxiety questionnaire for children which was adapted to determine depressive symptoms and anxiety disorders observed in childhood has adequate reliability and validity values and it can be used in future studies. It can be recommended that the psychometric characteristics of the scale can be analyzed and reported on new samples in the future studies.

Keywords: scale adapting, construct validity, confirmatory factor analysis, childhood depression

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