Search results for: familial searching

Authors: B. R. S. Babu, E. Prasad, P. V. Laveen, A. M. Vinodkumar

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Searching the “Island of stability” is a topic of extreme interest in theoretical as well as experimental modern physics today. This “island of stability” is spanned by superheavy elements (SHE's) that are produced in the laboratory. SHE's are believed to exist primarily due to the “magic” stabilizing effects of nuclear shell structure. SHE synthesis is extremely difficult due to their very low production cross section, often of the order of pico barns or less. Stabilizing effects of shell closures at proton number Z=82 and neutron number N=126 are predicted theoretically. Though stabilizing effects of Z=82 have been experimentally verified, no concluding observations have been made with N=126, so far. We measured and analyzed the total evaporation residue (ER) cross sections for a number of systems with neutron number around 126 to explore possible shell closure effects in ER cross sections, in this work.

Keywords: super heavy elements, fusion, evaporation residue, compund nucleus

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Authors: Berlian Eka Kurnia, Mohamad Very Setiawan, Rahmat Fadhli

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Archives play an important role in organization’s continuity, especially related to the learning activities in the past. Archive management is considered accessible when the archive can be used when needed. University archive can support research activities for institutions, besides, archive management services also have to pay attention to the accessibility that became a barometer of how easy users get the data or information from an archive, use and understand it. This study identifies about the accessibility of archive services at the Universitas Gadjah Mada, with case study method. Universitas Gadjah Mada archives not only provide a service to the academicians, but also for public. Universitas Gadjah Mada archive can be traced online and offline. Online searching archives can be acceessed through an application “SIKS” and offline searching can be accessed by "finding aids" printed. Although Universitas Gadjah Mada Archives has its own procedures to access the archive directly, but they also remain guided by National Archive of Indonesia.

Keywords: archival institution, university archive, archive’s accessibility, archive management

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Authors: Parag Bhalchandra, S. D. Khamitkar

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Searching trees is a most interesting application of Artificial Intelligence. Over the period of time, many innovative methods have been evolved to better search trees with respect to computational complexities. Tree searches are difficult to understand due to the exponential growth of possibilities when increasing the number of nodes or levels in the tree. Usually it is understood when we traverse down in the tree, traverse down to greater depth, in the search of a solution or a goal. However, this does not happen in reality as explicit enumeration is not a very efficient method and there are many algorithmic speedups that will find the optimal solution without the burden of evaluating all possible trees. It was a common question before all researchers where they often wonder what algorithms will yield the best and fastest result The intention of this paper is two folds, one to review selected tree search algorithms and search strategies that can be applied to a problem space and the second objective is to stimulate to implement recent developments in the complexity behavior of search strategies. The algorithms discussed here apply in general to both brute force and heuristic searches.

Keywords: trees search, asymptotic complexity, brute force, heuristics algorithms

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Authors: Fatimah Zawani Abdullah, Shereena Mohd Arif, Nurul Malim

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The study of molecular similarity search in chemical database is increasingly widespread, especially in the area of drug discovery. Similarity search is an application in the field of Chemoinformatics to measure the similarity between the molecular structure which is known as the query and the structure of chemical compounds in the database. Similarity search is also one of the approaches in virtual screening which involves computational techniques and scoring the probabilities of activity. The main objective of this work is to determine the best fingerprint when compared to the other five fingerprints selected in this study using PubChem chemical dataset. This paper will discuss the similarity searching process conducted using 6 types of descriptors, which are ECFP4, ECFC4, FCFP4, FCFC4, SRECFC4 and SRFCFC4 on 15 activity classes of PubChem dataset using Tanimoto coefficient to calculate the similarity between the query structures and each of the database structure. The results suggest that ECFP4 performs the best to be used with Tanimoto coefficient in the PubChem dataset.

Keywords: 2D fingerprints, Tanimoto, PubChem, similarity searching, chemoinformatics

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Authors: Selen Demirtas Zorbaz, Ozlem Ulas

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Examining the reasons of child behaviour problems has been one of the focus of psychology and related disciplines for so long. It can be said there is a lot of reasons of child behaviour problems and familial factors might be the leading ones. When taking into account the prevalence of the children having behaviour problems in Turkey, it can be said that it is important to carry out studies putting forward the reasons of behaviour problems. From this point of view, the aim of this study is to examine dissertations and thesis putting forward the relationship between problem behaviour of the children (12-year-old and younger) and teenagers (12-18 years old), and familial factors. For that purpose, 46 dissertations that were chosen according to the study criteria out of 141 dissertations scanned by using the keywords of ‘behaviour problems’ and ‘behaviour disorder’ at Higher Education Thesis Centre between the years of 1989 and 2016 have been taken into the scope of the study. ‘Thesis Examination Draft Form’ has been prepared for the purpose of being used for data collecting tool. For the analysis of the data, percentage, and frequency analysis methods have been used. When the results of these studies are evaluated on the whole, it is seen that all the dissertations and thesis done are descriptive study, and it was not encountered any studies designed as experimental. When looked at the distribution of dissertations by years, it is seen that the first thesis was done in 1989 and the most number of dissertations were done in the years of 2014 and 2016. When looked at the department in which the dissertations were done, it can be said that dissertations and thesis were done in many different fields of disciplines ranging from psychology and special education. In addition to this, when investigated the group taken into the scope of dissertations and thesis research, it is seen that the children mostly worked with are below the age of 12 and types of studies are master’s thesis. When the dissertations and thesis are examined by means of topics, it is seen that mostly-studied topics are demographic variables such as gender, whether the family is fragmented or not, education level of the family and the parents’ attitude. Obtained findings have been examined in the light of literature.

Keywords: family, child behaviour problem, dissertations, thesis

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Authors: Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alena S. Telepova, Alexander S. Graphodatsky, Dmitry V. Yudkin

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A cytogenetic and molecular genetic study of the family with a male child who had mental retardation and autistic features revealed an abnormal chromosome 13 bearing an enlarged p-arm with amplified ribosomal DNA (rDNA) in a boy and his father. Cytogenetic analysis using standard G-banding and FISH with labeled rDNA probes revealed an abnormal chromosome 13 with an enlarged p-arms due to rDNA amplification in a male child, who had clinically confirmed mental retardation and an autistic behavior. This chromosome is evidently inherited from the father, who has morphologically the same chromosome, but is healthy. The karyotype of the mother was normal. Ag-NOR staining showed brightly stained large whole-p-arm nucleolus organizer regions (NORs) in a child and normal-sized NORs in his father with 13p+-NOR-amount mosaicism. qRT-PCR with specific primers showed highly increased levels of 18S, 28S and 5,8 S ribosomal RNA (rRNA) in the patient’s blood samples compared to a normal healthy control donor. Both patient’s father and mother had no elevated levels of rRNAs expression. Thus, in this case, rRNA level seems to correlate with mental retardation in familial individuals with 13p+. Our findings of rRNA overexpression in a patient with mental retardation and his parents may show a possible link between the karyotype (p-arm enlargement due to rDNA amplification), rDNA functionality (rRNA overexpression), functional changes in the brain and mental retardation. The study is supported by Russian Science Foundation Grant 15-15-10001.

Keywords: mental retardation, ribosomal DNA–rDNA, ribosomal RNA–rRNA, nucleolus organizer region–NOR, chromosome 13

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Authors: Christelle Navarro, Sébastien Viaud, Carole Gard, Bruno Jahier

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Background: Idiopathic or familial nasal hyperkeratosis (NHK) may be considered a cosmetic issue in its uncomplicated form. Nevertheless, prevention of secondary lesions such as fissures or infections could be advised by proper management. The objective of this open-field study is to evaluate the benefits of a moisturizing balm in privately owned dogs with NHK, using an original validation grid for both investigator and owner assessments. Methods: Dogs with idiopathic or familial NHK received a vegetable-based ointment (Sensiderm® Balm, MP Labo, France) BID for 60 days. A global dermatological score (GDS) was defined using the sum of 4 criteria (“dryness,” “lichenification”, “crusts,” and “affected area”) on a 0 (no) to 3 (severe or > 2/3 extension) scale. Evaluation of this GDS (0-12) on D0, D30, and D60, by owners and investigators was the main outcome. The score’s percentage decrease versus D0, the evolution of each individual score, the correlation between observers, and the evaluation of clinical improvement and animal discomfort on VAS (0-10) during follow-up were analysed. Results: The global dermatological score significantly decreased over time (p<0.0001) for all observers. The decrease reached 44.9% and 54.3% at D30 and 54.5% and 62.3% at D60, for investigators and owners, respectively. “Dryness”, “Lichenification,” and “Affected area scores” decreased significantly and steadily over time compared to Day 0 for both investigators and owners (p < 0.001 and p = 0.001 for investigator assessment of dryness). All but one score (lichenification) were correlated at all times between observers (only at D60 for crusts). Whoever the observer, clinical improvement was always above 7. At D30 and until D60, “animal discomfort” was more than halved. Owner satisfaction was high as soon as D30 (8.1/10). No adverse effects were reported. Conclusion and clinical importance: The positive results confirm the benefits and safety of a moisturizing balm when used in dogs with uncomplicated NHK.

Keywords: hyperkeratosis, nose, dog, moisturizer

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Authors: Sunghyun Cho, Seung-Ah Lee

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Parental overprotection is known to have negative effects such as low independence, immature emotion regulation, and immoral behaviors on children’s development. This study investigated the effects of parental overprotection on Korean college students’ moral behaviors. In order to test the hypothesis that overprotected participants are more likely to show immoral behaviors in moral dilemma situations, we measured perceived parental overprotection using Korean-Parental Overprotection Scale (K-POS), Helicopter Parenting Behaviors, and Helicopter Parenting Instrument (HPI) for 200 college students. Participants’ level of morality was assessed using two types of online experimental tasks consisting of a word-searching puzzle and a visual perception task. Based on the level of perceived parental overprotection, 14 participants with high total scores in overparenting scales and 14 participants with average total scores in the scales were assigned to a high perceived overparenting student group, and control group, respectively. Results revealed that the high perceived overparenting group submitted significantly more untruthful answers compared to the control group in the visual perception task (t = 2.72, p < .05). However, there was no significant difference in immorality in the word-searching puzzle(t = 1.30, p > .05), yielding inconsistent results for the relationship between. These inconsistent results of two tasks assessing morality may be because submitting untruthful answers in the word-searching puzzle initiated a larger sense of immorality compared to the visual perception task. Thus, even the perceived overparenting participants seemingly tended not to submit immoral answers. Further implications and limitations of the study are discussed.

Keywords: college students, morality, overparenting, parental overprotection

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Authors: Sagir M. Yusuf, Chris Baber

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In this paper, we describe how to achieve knowledge understanding and prediction (Situation Awareness (SA)) for multiple-agents conducting searching activity using Bayesian inferential reasoning and learning. Bayesian Belief Network was used to monitor agents' knowledge about their environment, and cases are recorded for the network training using expectation-maximisation or gradient descent algorithm. The well trained network will be used for decision making and environmental situation prediction. Forest fire searching by multiple UAVs was the use case. UAVs are tasked to explore a forest and find a fire for urgent actions by the fire wardens. The paper focused on two problems: (i) effective agents’ path planning strategy and (ii) knowledge understanding and prediction (SA). The path planning problem by inspiring animal mode of foraging using Lévy distribution augmented with Bayesian reasoning was fully described in this paper. Results proof that the Lévy flight strategy performs better than the previous fixed-pattern (e.g., parallel sweeps) approaches in terms of energy and time utilisation. We also introduced a waypoint assessment strategy called k-previous waypoints assessment. It improves the performance of the ordinary levy flight by saving agent’s resources and mission time through redundant search avoidance. The agents (UAVs) are to report their mission knowledge at the central server for interpretation and prediction purposes. Bayesian reasoning and learning were used for the SA and results proof effectiveness in different environments scenario in terms of prediction and effective knowledge representation. The prediction accuracy was measured using learning error rate, logarithm loss, and Brier score and the result proves that little agents mission that can be used for prediction within the same or different environment. Finally, we described a situation-based knowledge visualization and prediction technique for heterogeneous multi-UAV mission. While this paper proves linkage of Bayesian reasoning and learning with SA and effective searching strategy, future works is focusing on simplifying the architecture.

Keywords: Levy flight, distributed constraint optimization problem, multi-agent system, multi-robot coordination, autonomous system, swarm intelligence

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Authors: Irene Carter, Roy Hanes, Judy MacDonald

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Considering that disability is universal and people with disabilities are part of all societies; that there is a connection between the disabled individual and the societal; and that it is society and social arrangements that disable people with impairments, contemporary disability discourse emphasizes the social model of disability to counter medical and rehabilitative models of disability. However, the social model does not go far enough in addressing the issues of oppression and inclusion. The authors indicate that the social model does not specifically or adequately denote the oppression of persons with disabilities, which is a central component of progressive social work practice with people with disabilities. The social model of disability does not go far enough in deconstructing disability and offering social workers, as well as people with disabilities a way of moving forward in terms of practice anchored in individual, familial and societal change. The social model of disability is expanded by incorporating principles of anti-oppression social work practice. Although the contextual analysis of the social model of disability is an important component there remains a need for social workers to provide service to individuals and their families, which will be illustrated through anti-oppressive practice (AOP). By applying an anti-oppressive model of practice to the above definitions, the authors not only deconstruct disability paradigms but illustrate how AOP offers a framework for social workers to engage with people with disabilities at the individual, familial and community levels of practice, promoting an emancipatory focus in working with people with disabilities. An anti- social- oppression social work model of disability connects the day-to-day hardships of people with disabilities to the direct consequence of oppression in the form of ableism. AOP theory finds many of its basic concepts within social-oppression theory and the social model of disability. It is often the case that practitioners, including social workers and psychologists, define people with disabilities’ as having or being a problem with the focus placed upon adjustment and coping. A case example will be used to illustrate how an AOP paradigm offers social work a more comprehensive and critical analysis and practice model for social work practice with and for people with disabilities than the traditional medical model, rehabilitative and social model approaches.

Keywords: anti-oppressive practice, disability, people with disabilities, social model of disability

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Authors: Saira Soroya, Khalid Mahmood

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Library catalogs open the door to the library collection. OPAC (Online Public Access Catalog) are one of the services offered by automated libraries. The present study aims to explore user’s awareness, the level of use and their searching behavior of OPAC with a purpose to give suggestions and ways to improve user-friendly features of library OPAC. The population consisted of OPAC users of Lahore University of Management Sciences (LUMS). Convenient sampling technique was carried out. Total sample size was 100 OPAC users. Quantitative research design, based on survey method used to carry out the study. The data collection instrument was adopted. Data was analyzed using SPSS. Results revealed that a considerable number of users were not aware of OPAC i.e. (30%); however, those who were aware were using basic features of the OPAC. It was found that lack of knowledge was considered the frequent reason for not using all features of OPAC. In this regard, it is strongly recommended that compulsory information literacy programme should be established.

Keywords: catalog, OPAC, library automation, usability study, university library

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Authors: Noor Attar

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The paper provides an overview of the current situation of HIV/AIDS patients in the Kingdom of Saudi Arabia (KSA) and a literature review of the concepts of stigma communication, communication of social support. These concepts provide the basis for the proposed methods, which will include conducting a textual analysis of materials that are currently distributed to family members of persons living with HIV/AIDS (PLWHIV/A) in KSA and creating an educational brochure. The brochure will aim to help families of PLWHIV/A in KSA (1) understand how stigma shapes the experience of PLWHIV/A, (2) realize the role of positive communication as a helpful social support, and (3) develop the ability to provide positive social support for their loved ones.

Keywords:

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Authors: Chettou Souhaila, Soufi Omar, Roumia Mohammed Ammar

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Protecting the environment is to preserve the survival and future of humanity. Indeed, the environment is our source of food and drinking water, the air is our source of oxygen, the climate allows our survival and biodiversity are a potential drug reservoir. Preserving the environment is, therefore, a matter of survival. The objective of this project is to familiarize the general public with environmental problems not only with the theme of environmental protection, but also with the concept of biodiversity in different ecosystems. For it, the aim of our project was to create the Ecorium which is a place that preserves many species of plants of different ecosystems, schools, malls, buildings, offices, ecological transports, gardens, and many familial activities that participated in the ecosystems development, strategic biodiversity and sustainable development.

Keywords: ecological system, ecorium, environment, sustainable development

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Authors: Noor Attar

Abstract:

This paper provides an overview of the current situation of HIV/AIDS patients in the Kingdom of Saudi Arabia (KSA) and a literature review of the concepts of stigma communication, communication of social support. These concepts provide the basis for the proposed methods, which will include conducting a textual analysis of materials that are currently distributed to family members of people living with HIV/AIDS (PLWHIV/A) in KSA and creating an educational brochure. The brochure will aim to help families of PLWHIV/A in KSA (1) understand how stigma shapes the experience of PLWHIV/A, (2) realize the role of positive communication as a helpful social support, and (3) develop the ability to provide positive social support for their loved ones.

Keywords: HIV/AIDS, Saudi Arabia, social support, stigma communication

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Authors: Sanjeev Sharma, Suman Lata

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With the availability of diverse printed, electronic literature and web sites on medical and health related information, it is impossible for the medical professional to get the information he seeks in the shortest possible time. For all these problems information literacy is the only solution. Thus, information literacy is recognized as an important aspect of medical education. In the present study, an attempt has been made to know the information literacy skills of the faculty and students at medical colleges of Haryana, Punjab and Chandigarh. The scope of the study was confined to the 12 selected medical colleges of three States (Haryana, Punjab, and Chandigarh). The findings of the study were based on the data collected through 1018 questionnaires filled by the respondents of the medical colleges. It was found that Online Medical Websites (such as WebMD, eMedicine and Mayo Clinic etc.) were frequently used by 63.43% of the respondents of Chandigarh which is slightly more than Haryana (61%) and Punjab (55.65%). As well, 30.86% of the respondents of Chandigarh, 27.41% of Haryana and 27.05% of Punjab were familiar with the controlled vocabulary tool; 25.14% respondents of Chandigarh, 23.80% of Punjab, 23.17% of Haryana were familiar with the Boolean operators; 33.05% of the respondents of Punjab, 28.19% of Haryana and 25.14% of Chandigarh were familiar with the use and importance of the keywords while searching an electronic database; and 51.43% of the respondents of Chandigarh, 44.52% of Punjab and 36.29% of Haryana were able to make effective use of the retrieved information. For accessing information in electronic format, 47.74% of the respondents rated their skills high, while the majority of respondents (76.13%) were unfamiliar with the basic search technique i.e. Boolean operator used for searching information in an online database. On the basis of the findings, it was suggested that a comprehensive training program based on medical professionals information needs should be organized frequently. Furthermore, it was also suggested that information literacy may be included as a subject in the health science curriculum so as to make the medical professionals information literate and independent lifelong learners.

Keywords: information, information literacy, medical professionals, medical colleges

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Authors: Santhani M. Selveindran

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Background: Natural disasters are traumatic global events that are becoming increasing more common, with significant psychosocial impact on survivors. This impact results not only in psychosocial distress but, for many, can lead to psychosocial disorders and chronic psychopathology. While there are currently available interventions that seek to prevent and treat these psychosocial sequelae, their effectiveness is uncertain. The evidence-base is emerging with more primary studies evaluating the effectiveness of various psychosocial interventions for survivors of natural disasters, which remains to be synthesized. Aim of Review: To identify, critically appraise and synthesize the current evidence-base on the effectiveness of psychosocial interventions in preventing or treating Post-Traumatic Stress Disorder (PTSD), Major Depressive Disorder (MDD) and/or Generalized Anxiety Disorder (GAD) in adults and children who are survivors of natural disasters. Methods: A protocol was developed as a guide to carry out this review. A systematic search was conducted in eight international electronic databases, three grey literature databases, one dissertation and thesis repository, websites of six humanitarian and non-governmental organizations renowned for their work on natural disasters, as well as bibliographic and citation searching for eligible articles. Papers meeting the specific inclusion criteria underwent quality assessment using the Downs and Black checklist. Data were extracted from the included papers and analysed by way of narrative synthesis. Results: Database and website searching returned 3777 papers where 31 met the criteria for inclusion. Additional 2 papers were obtained through bibliographic and citation searching. Methodological quality of most papers was fair. Twenty-five studies evaluated psychological interventions, five, social interventions whereas three studies evaluated ‘mixed’ psychological and social interventions. All studies, irrespective of methodological quality, reported post-intervention reductions in symptom scores for PTSD, depression and/or anxiety and where assessed, reduced diagnosis of PTSD and MDD, and produced improvements in self-efficacy and quality of life. Statistically significant results were seen in 27 studies. However, three studies demonstrated that the evaluated interventions may not have been very beneficial. Conclusions: The overall positive results suggest that any psychosocial interventions are favourable and should be delivered to all natural disaster survivors, irrespective of age, country, and phase of disaster. Yet, heterogeneity and methodological shortcomings of the current evidence-base makes it difficult to draw definite conclusions needed to formulate categorical guidance or frameworks. Further, rigorously conducted research is needed in this area, although the feasibility of such, given the context and nature of the problem, is also recognized.

Keywords: psychosocial interventions, natural disasters, survivors, effectiveness

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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

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

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

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Authors: Julia Brudzinski, Ashley Croswell, Jade Mardin, Hannah Shilling, Jennifer Berg-Carnegie

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Adults with brain injuries and mental illnesses commonly experience cognitive impairments that interfere with their participation in activities of daily living (ADLs). Prior research states that electronic reminder systems can support adults with cognitive impairments; however, previous studies focus primarily on one-way reminder systems. Research on adults with chronic diseases reported that two-way reminder systems yield better health outcomes and disease self-management compared to one-way reminder systems. Literature was identified through systematically searching 7 databases and hand-searching relevant reference lists. Retrieved studies were independently screened and reviewed by at least two members of the research team. Data was extracted on study design, participant characteristics, intervention details, study objectives, outcome measures, and important results. 574 articles were screened and reviewed. Nine articles met all inclusion criteria and were included. The literature focused on three main areas: system feasibility (n=8), stakeholder satisfaction (n=6), and efficacy of the two-way reminder systems (n=6). Participants in eight of the studies had brain injuries, with participants in only one study having a mental illness (i.e., schizophrenia). Two-way reminder systems were used to support participation in a wide range of ADLs. The current literature on two-way reminder systems to support ADLs for adults with cognitive impairments focuses on feasibility, stakeholder satisfaction, and system efficacy. Future research should focus on addressing the barriers to accessing and implementing two-way reminder systems and identifying specific client characteristics that would benefit most from using these systems.

Keywords: brain injury, digital health, occupational therapy, activities of daily living, two-way reminder systems

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Authors: M. Aljumaan, F. Alkhadra, A. Aldajani, M. Alarfaj, A. Alawami, Y. Aljamaan

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Introduction: The internet has been widely available with 18 million users in Saudi Arabia alone. It was shown that 58% of Saudis are using the internet as a source of health-related information which may contribute to overcrowding of the Emergency Room (ER). Not many studies have been conducted to show the effect of online searching for health related information (HRI) and its role in influencing internet users to visit various health care facilities. So the main objective is to determine a correlation between HRI website use and health care facility visits in Saudi Arabia. Methodology: By conducting a cross sectional study and distributing a questionnaire, a total number of 1095 people were included in the study. Demographic data was collected as well as questions including the use of HRI websites, type of websites used, the reason behind the internet search, which health care facility it lead them to visit and whether seeking health information on the internet influenced their attitude towards visiting health care facilities. The survey was distributed using an internet survey applications. The data was then put on an excel sheet and analyzed with the help of a biostatician for making a correlation. Results: We found 91.4% of our population have used the internet for medical information using mainly General medical websites (77.8%), Forums (34.2%), Social Media (21.6%), and government websites (21.6%). We also found that 66.9% have used the internet for medical information to diagnose and treat their medical conditions on their own while 34.7% did so due to the inability to have a close referral and 29.5% due to their lack of time. Searching for health related information online caused 62.5% of people to visit health care facilities. Outpatient clinics were most visited at 77.9% followed by the ER (27.9%). The remaining 37.5% do not visit because using HRI websites reassure them of their condition. Conclusion: In conclusion, there may be a correlation between health information website use and health care facility visits. However, to avoid potentially inaccurate medical information, we believe doctors have an important role in educating their patients and the public on where to obtain the correct information & advertise the sites that are regulated by health care officials.

Keywords: ER visits, health related information, internet, medical websites

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Authors: Ibrahim Abdullahi Mohammad

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A library catalogue exists not only as an inventory of the collections of the particular library, but also as a retrieval device. It is provided to assist the library user in finding whatever information or information resources they may be looking for. The paper proposes that this location objective of the library catalogue can only be fulfilled, if the library catalogue is constructed, bearing in mind the information needs and searching behavior of the library user. Comparing AACR2 and RDA viz-a-viz the changes RDA has introduced into bibliographic standards, the paper tries to establish the level of viability of RDA in relation to AACR2.

Keywords: library catalogue, information retrieval, AACR2, RDA

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Authors: Nicola Harrison

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Familial childhood sexual abuse (FCSA) prevalence rates in Aotearoa, New Zealand, are amongst the highest globally, particularly in indigenous communities. However, such statistics seem incongruent with indigenous paradigms of unity, care, and connection. The inability of policymakers and mainstream service providers to acknowledge the direct links between the social contexts created by colonisation for indigenous families in Aotearoa and intergenerational FCSA has meant there has been little meaningful success in combatting this significant social problem. This research traces the conditions of intergenerational FCSA to the systemic inequalities created by colonization. Kaupapa Māori methodologies were applied to this qualitative piece of empirical research wherein 17 indigenous contributors shared their stories of FCSA. From these stories and existing literature, we can identify how the machinations of colonisation are mirrored by techniques used to perpetrate abuse. Once identified, we are then able to recommend actions for halting FCSA for future generations.

Keywords: indigenity, family violence, childhood sexual abuse, colonization

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Authors: Lucille Lok-Sun Ngan

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There are significant gaps in both the migration and family literatures regarding the gendered parenting of Chinese migrants. Evidence from the literature informs us that the child-focused parenting style of the West has altered, with positive consequences, parent–child relationships in migrant families. In particular, second-generation migrants have developed hybrid identities distinct from those of their overseas-born parents and the locals. On returning to their place of origin, they may undergo yet another process of change in values, and in behaviour, in order to adapt to the local culture. As migration changes values, personality and practice at personal, interpersonal and familial levels, the cross-cultural experiences of returnees inevitably affect their own fatherhood journeys in their country of origin. This paper reviews current literature on fatherhood and migration and identifies the gaps and limitations that pertain to understanding the paternal experiences of Chinese return migrants.

Keywords: Chinese returnees, cross-cultural experiences, fatherhood, hybridity, migration

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Authors: Ashwini Mahesh Jagatap

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This paper presents the language learning strategy with respect to speaking skill with collaborative learning approach. Collaborative learning has been proven to be efficient learning methodology for all kinds of students. Students are working in groups of two or more, reciprocally searching for understanding, Solutions, or meanings, or creating a product. The presentation highlights the different stages which can be implemented during actual implementation of the methodology in the class room teaching learning process.

Keywords: collaborative classroom, collaborative learning approach, language skills, traditional teaching

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Authors: Vanessa Do, Lauren Smith, Leslie Carver

Abstract:

It is widely known that individuals with autism spectrum disorder (ASD) may exhibit sensitivity to stimuli. Even at a young age, they tend to display stimuli-related discomfort in their behavior during play. Play serves a crucial role in a child’s early years as it helps support healthy brain development, socio-emotional skills, and adaptation to their environment There is research dedicated to studying infant preferences for toys, especially in regard to: gender preferences, the advantages of promoting play, and the caregiver’s role in their child’s play routines. However, there is a disproportionate amount of literature examining how play patterns may differ in children with sensory sensitivity, such as children diagnosed with ASD. Prior literature has studied and found supporting evidence that individuals with ASD have deficits in social communication and have increased presence of repetitive behaviors and/or restricted interests, which also display in early childhood play patterns. This study aims to examine potential differences in toy preference between infants with (FH+) and without (FH-) a familial history of ASD ages 6. 9, and 12 months old. More specifically, this study will address the question, “do FH+ infants tend to play more with toys that require less social engagement compared to FH- infants?” Infants and their caregivers were recruited and asked to engage in a free-play session in their homes that lasted approximately 5 minutes. The sessions were recorded and later coded offline for engagement behaviors categorized by toy; each toy that the infants interacted with was coded as belonging to one of 6 categories: sensory (designed to stimulate one or more senses such as light-up toys or musical toys) , construction (e.g., building blocks, rubber suction cups), vehicles (e.g., toy cars), instructional (require steps to accomplish a goal such as flip phones or books), imaginative (e.g., dolls, stuffed animals), and miscellaneous (toys that do not fit into these categories). Toy engagement was defined as the infant looking and touching the toy (ILT) or looking at the toy while their caregiver was holding it (IL-CT). Results reported include/will include the proportion of time the infant was actively engaged with the toy out of the total usable video time per subject — distractions observed during the session were excluded from analysis. Data collection is still ongoing; however, the prediction is that FH+ infants will have higher engagement with sensory and construction toys as they require the least amount of social effort. Furthermore, FH+ infants will have the least engagement with the imaginative toys as prior literature has supported the claim that individuals with ASD have a decreased likelihood to engage in play that requires pretend play and other social skills. Looking at what toys are more or less engaging to FH+ infants is important as it provides significant contributions to their healthy cognitive, social, and emotional development. As play is one of the first ways for a child to understand the complexities of the larger world, the findings of this study may help guide further research into encouraging play with toys that are more engaging and sensory-sensitive for children with ASD.

Keywords: autism engagement, children’s play, early development, free-play, infants, toy

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Authors: Jeena Gupta

Abstract:

In the today’s world of pharmaceutical products, one should not forget the healing properties of inexpensive food materials especially spices. They are known to possess hidden pharmaceutical ingredients, imparting them the qualities of being anti-microbial, anti-oxidant, anti-inflammatory and anti-carcinogenic. Further aberrant epigenetic regulatory mechanisms like DNA methylation, histone modifications or altered microRNA expression patterns, which regulates gene expression without changing DNA sequence, contribute significantly in the development of various diseases. Changing lifestyles and diets exert their effect by influencing these epigenetic mechanisms which are thus the target of dietary phytochemicals. Bioactive components of plants have been in use since ages but their potential to reverse epigenetic alterations and prevention against diseases is yet to be explored. Spices being rich repositories of many bioactive constituents are responsible for providing them unique aroma and taste. Some spices like curcuma and garlic have been well evaluated for their epigenetic regulatory potential, but for others, it is largely unknown. We have evaluated the biological activity of phyto-active components of Fennel, Cardamom and Fenugreek by in silico molecular modeling, in vitro and in vivo studies. Ligand-based similarity studies were conducted to identify structurally similar compounds to understand their biological phenomenon. The database searching has been done by using Fenchone from fennel, Sabinene from cardamom and protodioscin from fenugreek as a query molecule in the different small molecule databases. Moreover, the results of the database searching exhibited that these compounds are having potential binding with the different targets found in the Protein Data Bank. Further in addition to being epigenetic modifiers, in vitro study had demonstrated the antimicrobial, antifungal, antioxidant and cytotoxicity protective effects of Fenchone, Sabinene and Protodioscin. To best of our knowledge, such type of studies facilitate the target fishing as well as making the roadmap in drug design and discovery process for identification of novel therapeutics.

Keywords: epigenetics, spices, phytochemicals, fenchone

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Authors: Ahcene Boucied

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In this paper, a case study is conducted to analyze the effectiveness of web pages designed in Barbados for the tourism and hospitality industry. The assessment is made from two perspectives: to understand how the Barbados’ tourism industry is using the web, and to identify the effect of information technology on economic issues. In return, this is used: (a) to provide interested parties with accurate information and marketing insight necessary for decision making for electronic commerce/e-commerce, and (b) to demonstrate pragmatic difficulties in searching and designing web pages.

Keywords: segmentation, tourism stakeholders, destination marketing, case study

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Authors: Panas Gerasimos, Kotidou Varvara, Halkiopoulos Constantinos, Gkintoni Evgenia

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As a result of growing technology and briefing by the internet, users resort to the internet and subsequently to the opinion of an expert. In many cases, they take control of their health in their hand and make a decision without the contribution of a doctor. According to that, this essay intends to analyze the confidence of searching health issues on the internet. For the fulfillment of this study, there has been a survey among doctors in order to find out the reasons a patient uses the internet about their health problems and the consequences that health information could lead by searching on the internet, as well. Specifically, the results regarding the research of the users demonstrate: a) the majority of users make use of the internet about health issues once or twice a month, b) individuals that possess chronic disease make health search on the internet more frequently, c) the most important topics that the majority of users usually search are pathological, dietary issues and the search of issues that are associated with doctors and hospitals. However, it observed that topic search varies depending on the users’ age, d) the most common sources of information concern the direct contact with doctors, as there is a huge preference from the majority of users over the use of the electronic form for their briefing and e) it has been observed that there is large lack of knowledge about e-health services. From the doctor's point of view, the following conclusions occur: a) almost all doctors use the internet as their main source of information, b) the internet has great influence over doctors’ relationship with the patients, c) in many cases a patient first makes a visit to the internet and then to the doctor, d) the internet significantly has a psychological impact on patients in order to for them to reach a decision, e) the most important reason users choose the internet instead of the health professional is economic, f) the negative consequence that emerges is inaccurate information, g) and the positive consequences are about the possibility of online contact with the doctor and contributes to the easy comprehension of the doctor, as well. Generally, it’s observed from both sides that the use of the internet in health issues is intense, which declares that the new means the doctors have at their disposal, produce the conditions for radical changes in the way of providing services and in the doctor-patient relationship.

Keywords: cognitive models, health marketing, e-health, psychological factors, digital marketing, e-health services

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Authors: Felipe Azocar Simonet, Luis Acosta Espejo

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In this article, we will try to find an efficient boundary approximation for the bi-objective location problem with coherent coverage for two levels of hierarchy (CCLP). We present the mathematical formulation of the model used. Supported efficient solutions and unsupported efficient solutions are obtained by solving the bi-objective combinatorial problem through the weights method using a Lagrangean heuristic. Subsequently, the results are validated through the DEA analysis with the GEM index (Global efficiency measurement).

Keywords: coherent covering location problem, efficient frontier, lagragian relaxation, data envelopment analysis

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Authors: Michaela Vašková

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With the increasing dependence of countries on the critical infrastructure, it increases their vulnerability. Big threat is primarily in the human factor (personnel of the critical infrastructure) and in terrorist attacks. It emphasizes the development of methodology for searching of weak points and their subsequent elimination. This article discusses methods for the analysis of safety in the objects of critical infrastructure. It also contains proposal for methodology for training employees of security services in the objects of the critical infrastructure and developing scenarios of attacks on selected objects of the critical infrastructure.

Keywords: critical infrastructure, object of critical infrastructure, protection, safety, security, security audit

Procedia PDF Downloads 315