Search results for: treating families of children with delays

Authors: Hayam Qayyum

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Print and Broadcast media are considered to be the most powerful social change agents and effective medium that can revolutionize the deter society into the civilized, responsible, composed society. Beside all major roles, imperative role of media is to highlight the human rights’ violation issues in order to provide awareness and to prevent society from the social evils and injustice. So, by pointing out the odds, media can lessen the magnitude of happenings within the society. For centuries, the “Silent Crime” i.e. Child Sexual Abuse (CSA) is gulping down the developing countries. This study will explore that how the appropriate Print and Broadcast media coverage can eliminate Child Sexual Abuse from the society. The immense challenge faced by the journalists today; is the accurate and ethical reporting and appropriate coverage to disclose the facts and deliver right message on the right time to lessen the social evils in the developing countries, by not harming the prestige of the victim. In case of CSA most of the victims and their families are not in favour to expose their children to media due to family norms and respect in the society. Media should focus on in depth information of CSA and use this coverage is to draw attention of the concern authorities to look into the matter for reforms and reviews in the system. Moreover, media as a change agent can bring such issue into the knowledge of the international community to make collective efforts with the affected country to eliminate the ‘Silent Crime’ from the society. The model country selected for this research paper is South Africa. The purpose of this research is not only to examine the existing reporting patterns and content of print and broadcast media coverage of South Africa but also aims to create awareness to eliminate Child Sexual abuse and indirectly to improve the condition of stake holders to overcome this social evil. The literature review method is used to formulate this paper. Trends of media content on CSA will be identified that how much amount and nature of information made available to the public through the media General view of media coverage on child sexual abuse in developing countries like India and Pakistan will also be focused. This research will be limited to the role of print and broadcast media coverage to eliminate child sexual abuse in South Africa. In developing countries, CSA issue needs to be addressed on immediate basis. The study will explore the CSA content of the most influential broadcast and print media outlets of South Africa. Broadcast media will be comprised of TV channels and print media will be comprised of influential newspapers. South Africa is selected as a model for this research paper.

Keywords: child sexual abuse, developing countries, print and broadcast media, South Africa

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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: F. Jiménez, R. Jódar, M. Martín, G. Sánchez, G. Sciavicco

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Abstract—Attribute or feature selection is one of the basic strategies to improve the performances of data classification tasks, and, at the same time, to reduce the complexity of classifiers, and it is a particularly fundamental one when the number of attributes is relatively high. Its application to unsupervised classification is restricted to a limited number of experiments in the literature. Evolutionary computation has already proven itself to be a very effective choice to consistently reduce the number of attributes towards a better classification rate and a simpler semantic interpretation of the inferred classifiers. We present a feature selection wrapper model composed by a multi-objective evolutionary algorithm, the clustering method Expectation-Maximization (EM), and the classifier C4.5 for the unsupervised classification of data extracted from a psychological test named BASC-II (Behavior Assessment System for Children - II ed.) with two objectives: Maximizing the likelihood of the clustering model and maximizing the accuracy of the obtained classifier. We present a methodology to integrate feature selection for unsupervised classification, model evaluation, decision making (to choose the most satisfactory model according to a a posteriori process in a multi-objective context), and testing. We compare the performance of the classifier obtained by the multi-objective evolutionary algorithms ENORA and NSGA-II, and the best solution is then validated by the psychologists that collected the data.

Keywords: evolutionary computation, feature selection, classification, clustering

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Authors: Para Jansuwan, Kerstin K. Zander

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Most people in rural Thailand still depend on agriculture. The rural areas are undergoing changes in their demographic structures with an increasing older population, out migration of younger people and a shift away from work in the agricultural sector towards manufacturing and service provisioning. These changes may lead to a decline in agricultural productivity and food insecurity. Our research aims to examine perceptions of older farmers on how rural demographic change affects them, to investigate how farmers may change their agricultural practices to cope with their ageing and to explore the factors affecting these changes, including the opportunities and challenges arising from them. The data were collected through a household survey with 368 farmers in the Prachin Buri province in central Thailand, the main area for agricultural production. A series of binomial logistic regression models were applied to analyse the data. We found that most farmers suffered from age-related diseases, which compromised their working capacity. Most farmers attempted to reduce labour intense work, by either stopping farming through transferring farmland to their children (41%), stopping farming by giving the land to the others (e.g., selling, leasing out) (28%) and continuing farming with making some changes (e.g., changing crops, employing additional workers) (24%). Farmers’ health and having a potential farm successor were positively associated with the probability of stopping farming by transferring the land to the children. Farmers with a successor were also less likely to stop farming by giving the land to the others. Farmers’ age was negatively associated with the likelihood of continuing farming by making some changes. The results show that most farmers base their decisions on the hope that their children will take over the farms, and that without successor, farmers lease out or sell the land. Without successor, they also no longer invest in expansion and improvement of their farm production, especially adoption of innovative technologies that could help them to maintain their farm productivity. To improve farmers’ quality of life and sustain their farm productivity, policies are needed to support the viability of farms, the access to a pension system and the smooth and successful transfer of the land to a successor of farmers.

Keywords: rural demographic change, older farmer, stopping farming, continuing farming, health and age, farm successor, Thailand

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Authors: Adesiji Adeolu Richard, Hassa Musa, Osita Evaritus Asogwa, Mary Oluwatobi Odekunle, Mangey Jarumi Akila

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In this paper, extract from raw Moringa Oleifera seeds for the treatment of 40 liters of abattoir wastewater was studied for a period of ten (10) weeks. A completely randomized design with loading dosages of 10, 12, 14, 16, 18, and 20g of processed Moringa Oleifera seed was used in the treatment. A control sample (with no Moringa Oleifera treatment) was also included. The physical and chemical properties of abattoir wastewater were investigated before and after treatment. The turbidity value was reduced drastically after the treatments from 15.40 to 7.63 mg/l for 16g dosage in week 7. Total alkalinity, Total hardness, Conductivity, Calcium, and Biological Oxygen Demand were all found to be reduced in concentration within the second and fourth weeks of the experiment with 14 to 16g of Moringa Oleifera dosage. The results generally showed that 16g/500ml of Moringa Oleifera was able to treat abattoir wastewater after weeks of the experiment.

Keywords: Moringa Oleifera, abattoir wastewater, turbidity, conductivity, pH

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Authors: Sarika Gupta, Harshika Khanna, Ajay K Verma, Surya Kant

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Background: Drug-resistant tuberculosis (DR-TB) is a growing health challenge to global TB control efforts. Pediatric DR-TB is one of the neglected infectious diseases. In our previously published report, we have notified an increased prevalence of DR-TB in the pediatric population at a tertiary health care centre in North India which was estimated as 17.4%, 15.1%, 18.4%, and 20.3% in (%) in the year 2018, 2019, 2020, and 2021. Limited evidence exists about a pattern of drug resistance, side effect profile and programmatic outcomes of Paediatric DR-TB treatment. Therefore, this study was done to find out the pattern of resistance, side effect profile and treatment outcome. Methodology: This was a prospective cohort study conducted at the nodal drug-resistant tuberculosis centre of a tertiary care hospital in North India from January 2021 to December 2022. Subjects included children aged between 0-18 years of age with a diagnosis of DR-TB, on the basis of GeneXpert (rifampicin [RIF] resistance detected), line probe assay and drug sensitivity testing (DST) of M. tuberculosis (MTB) grown on a culture of body fluids. Children were classified as monoresistant TB, polyresistant TB (resistance to more than 1 first-line anti-TB drug, other than both INH and RIF), MDR-TB, pre-XDR-TB and XDR-TB, as per the WHO classification. All the patients were prescribed DR TB treatment as per the standard guidelines, either shorter oral DR-TB regimen or a longer all-oral MDR/XDR-TB regimen (age below five years needed modification). All the patients were followed up for side effects of treatment once per month. The patient outcomes were categorized as good outcomes if they had completed treatment and cured or were improving during the course of treatment, while bad outcomes included death or not improving during the course of treatment. Results: Of the 50 pediatric patients included in the study, 34 were females (66.7%) and 16 were male (31.4%). Around 33 patients (64.7%) were suffering from pulmonary TB, while 17 (33.3%) were suffering from extrapulmonary TB. The proportions of monoresistant TB, polyresistant TB, MDR-TB, pre-XDR-TB and XDR-TB were 2.0%, 0%, 50.0%, 30.0% and 18.0%, respectively. Good outcome was reported in 40 patients (80.0%). The 10 bad outcomes were 7 deaths (14%) and 3 (6.0%) children who were not improving. Adverse events (single or multiple) were reported in all the patients, most of which were mild in nature. The most common adverse events were metallic taste 16(31.4%), rash and allergic reaction 15(29.4%), nausea and vomiting 13(26.0%), arthralgia 11 (21.6%) and alopecia 11 (21.6%). Serious adverse event of QTc prolongation was reported in 4 cases (7.8%), but neither arrhythmias nor symptomatic cardiac side effects occurred. Vestibular toxicity was reported in 2(3.9%), and psychotic symptoms in 4(7.8%). Hepatotoxicity, hypothyroidism, peripheral neuropathy, gynaecomastia, and amenorrhea were reported in 2 (4.0%), 4 (7.8%), 2 (3.9%), 1(2.0%), and 2 (3.9%) respectively. None of the drugs needed to be withdrawn due to uncontrolled adverse events. Conclusion: Paediatric DR TB treatment achieved favorable outcomes in a large proportion of children. DR TB treatment regimen drugs were overall well tolerated in this cohort.

Keywords: pediatric, drug-resistant, tuberculosis, adverse events, treatment

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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: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

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22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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Authors: Shiamaa Eltantawy, Gihan Sobhy, Alif Alaam

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Wilson disease, or hepatolenticular degeneration, is an autosomal recessive disease that results in excess copper buildup in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems. Musculoskeletal abnormalities, including premature osteoarthritis, skeletal deformity, and pathological bone fractures, can occasionally be found in WD patients with a hepatic or neurologic type. The aim was to assess the prevalence of osteoporosis and osteopenia in Wilson’s disease patients. This case-control study was conducted on ninety children recruited from the inpatient ward and outpatient clinic of the Paediatric Hepatology, Gastroenterology, and Nutrition department of the National Liver Institute at Menofia University, aged from 1 to 18 years. Males were 49, and females were 41. Children were divided into three groups: (Group I) consisted of thirty patients with WD; (Group II) consisted of thirty patients with chronic liver disease other than WD; (Group III) consisted of thirty age- and sex-matched healthy The exclusion criteria were patients with hyperparathyroidism, hyperthyroidism, renal failure, Cushing's syndrome, and patients on certain drugs such as chemotherapy, anticonvulsants, or steroids. All patients were subjected to the following: 1- Full history-taking and clinical examination. 2-Laboratory investigations: (FBC,ALT,AST,serum albumin, total protein, total serum bilirubin,direct bilirubin,alkaline phosphatase, prothrombin time, serum critine,parathyroid hormone, serum calcium, serum phosphrus). 3-Bone mineral density (BMD, gm/cm2) values were measured by dual-energy X-ray absorptiometry (DEXA). The results revealed that there was a highly statistically significant difference between the three groups regarding the DEXA scan, and there was no statistically significant difference between groups I and II, but the WD group had the lowest bone mineral density. The WD group had a large number of cases of osteopenia and osteoporosis, but there was no statistically significant difference with the group II mean, while a high statistically significant difference was found when compared to group III. In the WD group, there were 20 patients with osteopenia, 4 patients with osteoporosis, and 6 patients who were normal. The percentages were 66.7%, 13.3%, and 20%, respectively. Therefore, the largest number of cases in the WD group had osteopenia. There was no statistically significant difference found between WD patients on different treatment regimens regarding DEXA scan results (Z-Score). There was no statistically significant difference found between patients in the WD group (normal, osteopenic, or osteoporotic) regarding phosphorus (mg/dL), but there was a highly statistically significant difference found between them regarding ionised Ca (mmol/L). Therefore, there was a decrease in bone mineral density when the Ca level was decreased. In summary, Wilson disease is associated with bone demineralization. The largest number of cases in the WD group in our study had osteopenia (66.7%). Different treatment regimens (zinc monotherapy, Artamin, and zinc) as well as different laboratory parameters have no effect on bone mineralization in WD cases. Decreased ionised Ca is associated with low BMD in WD patients. Children with WD should be investigated for BMD.

Keywords: wilson disease, Bone mineral density, liver disease, osteoporosis

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Authors: Zuzanna Miodonska, Michal Krecichwost, Pawel Badura

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Sigmatism (lisping) is a speech disorder in which sibilant consonants are mispronounced. The diagnosis of this phenomenon is usually based on the auditory assessment. However, the progress in speech analysis techniques creates a possibility of developing computer-aided sigmatism diagnosis tools. The aim of the study is to statistically verify whether specific acoustic features of sibilant sounds may be related to pronunciation correctness. Such knowledge can be of great importance while implementing classifiers and designing novel tools for automatic sibilants pronunciation evaluation. The study covers analysis of various speech signal measures, including features proposed in the literature for the description of normative sibilants realization. Amplitudes and frequencies of three fricative formants (FF) are extracted based on local spectral maxima of the friction noise. Skewness, kurtosis, four normalized spectral moments (SM) and 13 mel-frequency cepstral coefficients (MFCC) with their 1st and 2nd derivatives (13 Delta and 13 Delta-Delta MFCC) are included in the analysis as well. The resulting feature vector contains 51 measures. The experiments are performed on the speech corpus containing words with selected sibilant sounds (/ʃ, ʒ/) pronounced by 60 preschool children with proper pronunciation or with natural pathologies. In total, 224 /ʃ/ segments and 191 /ʒ/ segments are employed in the study. The Mann-Whitney U test is employed for the analysis of stigmatism and normative pronunciation. Statistically, significant differences are obtained in most of the proposed features in children divided into these two groups at p < 0.05. All spectral moments and fricative formants appear to be distinctive between pathology and proper pronunciation. These metrics describe the friction noise characteristic for sibilants, which makes them particularly promising for the use in sibilants evaluation tools. Correspondences found between phoneme feature values and an expert evaluation of the pronunciation correctness encourage to involve speech analysis tools in diagnosis and therapy of sigmatism. Proposed feature extraction methods could be used in a computer-assisted stigmatism diagnosis or therapy systems.

Keywords: computer-aided pronunciation evaluation, sigmatism diagnosis, speech signal analysis, statistical verification

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Authors: Jill Steel

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The interlinked issues of emotional wellbeing and attainment continue to dominate international educational discourse. Reading skills are particularly important to attainment in all areas of the curriculum, and illiteracy is associated with reduced wellbeing and life prospects, with serious ramifications for the wider economy and society. Research shows that reading attainment is influenced by reading motivation and frequency. Reading to Dogs (RTD) is increasingly applied to promote reading motivation and frequency in schools despite a paucity of empirical evidence, specifically examining the influence of RTD on emotional wellbeing and engagement with reading. This research aims to examine whether RTD is effective in promoting these positive outcomes among children aged eight to nine years. This study also aims to inform much needed regulation of the field and standards of practice, including both child and dog welfare. Therefore, ethical matters such as children’s inclusion and safety, as well as the rights and wellbeing of dogs infuse the study throughout. The methodological design is a mixed method longitudinal study. A UK wide questionnaire will be distributed to teachers between January and June 2020 to understand their perceptions of RTD. Following this, a randomised controlled trial (N = 100) will begin in August 2020 in two schools of a comparable demographic, with N= 50 in the intervention school, and N= 50 in a waiting list control school. Reading and wellbeing assessments will be conducted prior to and immediately post RTD, and four weeks after RTD to measure sustained changes. The reading assessments include New Group Reading Test, Motivation to Read Profile (Gambrell et al., 1995), as well as reading frequency and reading anxiety assessments specifically designed for the study. Wellbeing assessments include Goodman’s SDQ, (1997) and pupil self-reporting questionnaires specifically designed for the study. Child, class teacher, and parent questionnaires and interviews prior to, during and post RTD will be conducted to measure perceptions of the impact of RTD on mood and motivation towards reading. This study will make a substantial contribution to our understanding of the effectiveness of RTD and thus have consequences for the fields of education and anthrozoology.

Keywords: animal assisted intervention, reading to dogs, welfare, wellbeing

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Authors: Rozo D. Juan Felipe, Ramírez L. Leonardo Juan, Puerta A. Gabriel Alberto

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The telemedicine services require correct computing resource management to guarantee productivity and efficiency for medical and non-medical staff. The aim of this study was to examine web management strategies to ensure the availability of resources and services in telemedicine so as to provide medical information management with an accessible strategy. In addition, to evaluate the quality-of-service parameters, the followings were measured: delays, throughput, jitter, latency, available bandwidth, percent of access and denial of services based of web management performance map with profiles permissions and database management. Through 24 different test scenarios, the results show 100% in availability of medical information, in relation to access of medical staff to web services, and quality of service (QoS) of 99% because of network delay and performance of computer network. The findings of this study suggest that the proposed strategy of web management is an ideal solution to guarantee the availability, reliability, and accessibility of medical information. Finally, this strategy offers seven user profile used at telemedicine center of Bogota-Colombia keeping QoS parameters suitable to telemedicine services.

Keywords: availability, medical information, QoS, strategy, telemedicine

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Authors: Juhanita Jiman

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This paper aims to demonstrate how androgogical approach can help educators to facilitate animation students with better understanding of their acquired technical knowledge and skills while introducing them to crucial content and ethical values. In this borderless world, it is important for the educators to know that they are dealing with young adults who are heavily influenced by their surroundings. Naturally, educators are not only handling academic issues, they are also burdened with social obligations. Appropriate androgogical approach can be beneficial for both educators and students to tackle these problems. We used to think that teaching pedagogy is important at all level of age. Unfortunately, pedagogical approach is not entirely applicable to university students because they are no longer children. Pedagogy is a teaching approach focusing on children, whereas andragogy is specifically focussing on teaching adults and helping them to learn better. As adults mature, they become increasingly independent and responsible for their own actions. In many ways, the pedagogical model is not really suitable for such developmental changes, and therefore, produces tension, dissatisfaction, and resistance in individual student. The ever-changing technology has resulted in animation students to be very competitive in acquiring their technical skills, making them forget and neglecting the importance of the core values of a story. As educators, we have to guide them not only to excel in achieving knowledge, skills and technical expertise but at the same time, show them what is right or wrong and encourage them to inculcate moral values in their work.

Keywords: andragogy, animation, artistic contents, productive learning environment

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Authors: E. Sobhani-Tehrani, K. Khorasani, N. Meskin

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This paper presents a novel integrated hybrid approach for fault diagnosis (FD) of nonlinear systems. Unlike most FD techniques, the proposed solution simultaneously accomplishes fault detection, isolation, and identification (FDII) within a unified diagnostic module. At the core of this solution is a bank of adaptive neural parameter estimators (NPE) associated with a set of single-parameter fault models. The NPEs continuously estimate unknown fault parameters (FP) that are indicators of faults in the system. Two NPE structures including series-parallel and parallel are developed with their exclusive set of desirable attributes. The parallel scheme is extremely robust to measurement noise and possesses a simpler, yet more solid, fault isolation logic. On the contrary, the series-parallel scheme displays short FD delays and is robust to closed-loop system transients due to changes in control commands. Finally, a fault tolerant observer (FTO) is designed to extend the capability of the NPEs to systems with partial-state measurement.

Keywords: hybrid fault diagnosis, dynamic neural networks, nonlinear systems, fault tolerant observer

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Authors: Frantisek Kopriva, Kamila Michalkova, Radim Dudek, Jana Volejnikova

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Rationale: Diagnostic criteria of asthma–COPD overlap syndrome (ACOS) are controversial in pediatrics. Emphysema is characteristic of COPD and usually does not occur in typical asthma; its presence in patients with asthma suggests the concurrence with COPD. Low-dose chest computed tomography (CT) allows a non-invasive assessment of the lung tissue structure. Here we present CT findings of emphysematous changes in a child with ACOS. Patient and Methods: In a 6-year-old boy, atopy was confirmed by a skin prick test using common allergen extracts (grass and tree pollen, house dust mite, molds, cat, dog; manufacturer Stallergenes Greer, London, UK), where reactions over 3 mm were considered positive. Treatment with corticosteroids was started during the course of severe asthma. At 12 years of age, his spirometric parameters deteriorated despite treatment adjustment (VC 1.76 L=85%, FEV1 1.13 L=67%, TI%VCmax 64%, MEF25 19%, TLC 144%) and the bronchodilator test became negative. Results: Low-dose chest CT displayed irregular regions with increased radiolucency of pulmonary parenchyma (typical for hyperinflation in emphysematous changes) in both lungs. This was in accordance with the results of spirometric examination. Conclusions: ACOS is infrequent in children. However, low-dose chest CT scan can be considered to confirm this diagnosis or eliminate other diagnoses when the clinical condition is deteriorating and treatment response is poor.

Keywords: child, asthma, low-dose chest CT, ACOS

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Authors: Yuki Matsumoto, Yuma Ishimoto

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Cognitive Behavior Therapy (CBT) with children has shown effective application to various problems such as anxiety and depression. Although there are barriers to access to mental health services including lack of professional services in communities and parental concerns about stigma, school has a significant role to address children’s health problems. Schools are regarded as a suitable arena for prevention and early intervention of mental health problems. In this line, CBT can be adaptable to school education and useful to enhance students’ social and emotional skills. However, Japanese school curriculum is rigorous so as to limit available time for implementation of CBT in schools. This paper describes Brief Cognitive Behavior Therapy (BCBT) with children in a Japanese school setting. The program has been developed in order to facilitate acceptability of CBT in schools and aimed to enhance students’ skills to manage anxiety and difficult behaviors. The present research used a single arm design in which 30 students aged 9-10 years old participated. The authors provided teachers a CBT training workshop (two hours) at two primary schools in Tokyo metropolitan area and recruited participants in the research. A homeroom teacher voluntarily delivered a 6-session BCBT program (15 minutes each) in classroom periods which is called as Kaerinokai, a meeting before leaving school. Students completed a questionnaire sheet at pre- and post-periods under the supervision of the teacher. The sheet included the Spence Child Anxiety Scale (SCAS), the Depression Self-Rating Scale for Children (DSRS), and the Strengths and Difficulties Questionnaire (SDQ). The teacher was asked for feedback after the completion. Significant positive changes were found in the total and five of six sub-scales of the SCAS and the total difficulty scale of the SDQ. However, no significant changes were seen in Physical Injury Fear sub-scale of the SCAS, in the DSRS or the Prosocial sub-scale of the SDQ. The effect sizes are mostly between small and medium. The teacher commented that the program was easy to use and found positive changes in classroom activities and personal relationships. This preliminary research showed the feasibility of the BCBT in a school setting. The results suggest that the BCBT offers effective treatment for reduction in anxiety and in difficult behaviors. There is a good prospect of the BCBT suggesting that BCBT may be easier to be delivered than CBT by Japanese teachers to promote child mental health. The study has limitations including no control group, small sample size, or a short teacher training. Future research should address these limitations.

Keywords: brief cognitive behavior therapy, cognitive behavior therapy, mental health services in schools, teacher training workshop

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Authors: M. Rahimi, F. Corman

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This paper study the travel behavior of passengers in a public transport disruption under information provision strategies. We develop a within-day approach for multi-agent simulation to evaluate the behavior of the agents, under comprehensive scenarios through various information exposure, equilibrium, and non-equilibrium scenarios. In particular, we quantify the effects of information strategies in disruption situation on passengers’ satisfaction, number of involved agents, and the caused delay. An agent-based micro-simulation model (MATSim) is applied for the city of Zürich, Switzerland, for the purpose of activity-based simulation in a multimodal network. Statistic outcome is analysed for all the agents who may be involved in the disruption. Agents’ movement in the public transport network illustrates agents’ adaptations to available information about the disruption. Agents’ delays and utility reveal that information significantly affects agents’ satisfaction and delay in public transport disruption. Besides, while the earlier availability of the information causes the fewer consequent delay for the involved agents, however, it also leads to more amount of affected agents.

Keywords: agent-based simulation, disruption management, passengers’ behavior simulation, public transport

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Authors: Awatif Habeeb Al-Shamare

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The number of social media users amongst special education teachers and parents of children with Down Syndrome (DS) is increasing annually. This is also the case in the Kingdom of Saudi Arabia (KSA). However, according to the best of the author’s knowledge, there are no qualitative studies which testify to the true nature of the interaction between teachers and parents when using social media, nor the role of social media in supporting and assisting parents and teachers with regards to the children’s educational needs in KSA. Therefore, this ongoing study aims to identify the role of social media in supporting parents and teachers of DS students, with a special emphasis on early intervention services in KSA. By bridging the knowledge gap on social media and special education in KSA and presenting socially relevant and applied information on the topic, this research provides a theoretical and practical base for the establishment of appropriate and effective programmes between the ministries of Information and Special Education in particular. A qualitative approach was selected because it was the most suitable approach for exploring the participants’ experiences, which could not be determined through scientific tests. Interviewing, chosen as the research instrument, allowed the researcher to obtain a detailed understanding of the topic linked to the study objectives. Initially, a pilot study was conducted at the Daycare Center in May 2016. Its aim was to examine and refine the methodology and assess whether the questions were understood with the potential for re-drafting them, if necessary. The main study consists of five teachers and five mothers with experience of using social media and with links to the Daycare Center. Thematic Analysis has been chosen for analysing the findings because it is a flexible method that allows themes to emerge from the data. Results of the current study are still in the initial stages, but the preliminary findings are as follows: (1) social media is an important tool in encouraging parents and teachers to access the necessary information and knowledge about, and experience in, early intervention services; (2) it acts as a support network for the parents; (3) it helps raise awareness about DS and the need for early intervention; (4) it can be used to put pressure on the government for an expansion in early intervention services, and finally (5) its use can be problematic in that parents and teachers face some difficulties and challenges when using the different platforms. It can be concluded that social media plays a significant role in the lives of teachers and parents with special needs children in KSA.

Keywords: down syndrome, early intervention services, social media, support parents and teachers

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Authors: Md Maruf Hossain Koli

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The issue of child labor is enormous and cannot be ignored in Bangladesh. The problem of child exploitation is a socio-economic reality of Bangladesh. This paper will indicate the causes, consequences, and possibilities of using microfinance as remedies of hazardous child labor in Bangladesh. Poverty is one of the main reasons for children to become child laborers. It is an indication of economic vulnerability, inadequate law, and enforcement system and cultural and social inequities along with the inaccessible and low-quality educational system. An attempt will be made in this paper to explore and analyze child labor scenario in Bangladesh and will explain holistic intervention of BRAC, the largest nongovernmental organization in the world to address child labor through promoting incubation support to youth-led enterprises. A combination of research methods were used to write this paper. These include non-reactive observation in the form of literature review, desk studies as well as reactive observation like site visits and, semi-structured interviews. Hazardous Child labor is a multi-dimensional and complex issue. This paper was guided by the answer following research questions to better understand the current context of hazardous child labor in Bangladesh, especially in Dhaka city. The author attempted to figure out why child labor should be considered as a development issue? Further, it also encountered why child labor in Bangladesh is not being reduced at an expected pace? And finally what could be a sustainable solution to eradicate this situation. One of the most challenging characteristics of child labor is that it interrupts a child’s education and cognitive development hence limiting the building of human capital and fostering intergenerational reproduction of poverty and social exclusion. Children who are working full-time and do not attend school, cannot develop the necessary skills. This leads them and their future generation to remain in poor socio-economic condition as they do not get a better paying job. The vicious cycle of poverty will be reproduced and will slow down sustainable development. The outcome of the research suggests that most of the parents send their children to work to help them to increase family income. In addition, most of the youth engaged in hazardous work want to get training, mentoring and easy access to finance to start their own business. The intervention of BRAC that includes classroom and on the job training, tailored mentoring, health support, access to microfinance and insurance help them to establish startup. This intervention is working in developing business and management capacity through public-private partnerships and technical consulting. Supporting entrepreneurs, improving working conditions with micro, small and medium enterprises and strengthening value chains focusing on youth and children engaged with hazardous child labor.

Keywords: child labour, enterprise development, microfinance, youth entrepreneurship

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Authors: N. Tarai, S. Seighi, S. Doumandji

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The date palm trees Phoenix dactylifera L. are subject to infestation with a variety of insect pests and mite associated, the Carob moth Ectomyelois ceatoniae (Zeller)(Lepidoptera, Pyralidae) is a key pest. Survey of the insect and mite pests associated with date palm trees in the seven stations at Biskra Oasis, throughout two successive years, from October 2011 until September 2012 revealed twelve insect pests belonging to ten families and six orders in addition to one mite belonging to one family from order Acari.

Keywords: date palm, insect, pests, infestation, mit, Biskra, Oasis

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Authors: S. Bayona, J. Nunez, D. Paez, C. Diaz

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The application of Lean manufacturing tools continues to be an effective solution for increasing productivity, reducing costs and eliminating waste in the manufacture of goods and services. This article analyzes the production process of a hot asphalt manufacturing company from an administrative and technical perspective. Three main phases were analyzed, the first phase was related to the determination of the risk priority number of the main operations in asphalt mix production process by an FMEA (Failure Mode Effects Analysis), in the second phase the Value Stream Mapping (VSM) of the production line was performed and in the third phase a SWOT (Strengths, Weaknesses Opportunities, Threats) matrix was constructed. Among the most valued failure modes were the lack training of workers in occupational safety and health issues, the lack of signaling and classification of granulated material, and the overweight of vehicles loaded. The analysis of the results in the three phases agree on the importance of training operational workers, improve communication with external actors in order to minimize delays in material orders and strengthen control suppliers.

Keywords: asphalt, lean manufacturing, productivity, process

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Authors: Beata Skibska, Andrzej Stanczak, Agnieszka Skibska

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Nanodiamond (ND) is a carbon nanomaterial that has high biocompatibility, and it has a very positive effect on a number of biochemical processes. NDs have great potential in treating multiple inflammation-associated diseases. The purpose of this study was to investigate the anti-inflammatory effect of nanodiamonds and lipoic acid (LA) (as antioxidants) on rats' cardiovascular systems after lipopolysaccharide (LPS) administration. Animal experiments enabled the determination of how nanodiamonds act when applied independently or in combination with lipoic acid. The effect of NDs and LA on C-reactive protein (CRP) levels and heart edema was evaluated. NDs and LA administered after LPS administration attenuated heart edema and significantly decreased the CRP level. The results suggest that NDs and LA play an important role in LPS-induced inflammation in the heart. NDs find new applications in modern biomedical science and biotechnologies.

Keywords: nanodiamonds, lipoic acid, inflammation, cardiovascular system

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Authors: Nazmul Hussain, Saba Owais

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The paper is an effort to come across the fertility differential by religion and socio-economic characteristic by religion. Religion and Socio-economic characteristic are conceptualised as touching demography in two ways- through its theoretical content, and in terms of the socio-economic ‘characteristics’ of different religious groups. The mean number of children ever born (MCEB) is used to measure fertility. Efficient contrast of Muslims and Non-Muslims shows little difference in their theological positions on demographic issues, with the omission of their position on birth control. The present paper using data from a primary field survey of 2590 households in the Malda district of West Bengal. Older and younger cohorts of women were examined separately for assessing fertility differential. MCEB was found to be high for women with husbands employed as labourers with a low monthly income. This was true for both the cohorts, but fertility levels were much higher among the older cohort. Low MCEB was found with increasing income and for those in regular salaried jobs. The analysis shows that there is a major dissimilarity in the effects of various socio-economic aspects on the number of children-ever-born among the religious groups, suggesting that religious groups may need to be targeted differently by policy-makers in order to influence demographic decision-making.

Keywords: fertility, socio-economic differences, religion, MCEB

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Authors: Galuh Asri Bestari, Hajar Shofiyya

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Double burden of malnutrition (DBM) has been a global problem in these last decades occurs in both developed and developing countries. Overweight in adults and stunting among preschool children have dramatically increased and become the main problems of malnutrition that should be solved immediately since they are directly related with the health status and productivity. Reformulation of food product by using the local sea resources called terasi shrimp (Acetes indicus) has a potential possibility in facing the DBM. A study was carried out in Indonesia to determine the acceptability of terasi shrimp powder through sensory evaluation. Terasi shrimps were processed into powder form through sun drying and pounding methods. The powder form was directly added in food as alternative seasonings and tested among stunted and normal preschool children. Meanwhile, a further processing method is given to the shrimp powder tested in overweight and normal-weighed adults. The shrimp powder was mixed with sago flour and formed into balls, then steamed for 15-20 minutes, and finally served as alternative snacks. Based on the sensory evaluation, the shrimp powder has a good acceptance in taste (54%), shape (60%), and color properties (63%), while the shrimp balls has a good acceptance in size (65%), shape (50%), color (48%), taste (40%), and texture (36%). Terasi shrimp powder can be stored for a month in room temperature. In addition, carried out chemical analysis revealed that terasi shrimp (Acetes indicus) has higher percentage of protein, calcium, and iron than other animal sources, but conversely contains zero sodium and very low percentage of fat. Terasi shrimp’s shell also contains a substance called chitosan which acts by forming gels in the intestinal tract to entrap lipids, thus interfering with their absorption. After going through some processing methods, the shrimp powder and balls did not show any significant changes in their nutrient contents. So that, terasi shrimp powder is good to be consumed not only by overweight adults, but also by children to support their optimum growth. Intervention of terasi shrimp powder should be implemented step by step from national up to global governance program to face the DBM.

Keywords: Acetes indicus, alternative food, double burden of malnutrition, sensory evaluation

Procedia PDF Downloads 305

Authors: Faraj M. Elkhatri, Hana Ellafi

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In recent years, there has been a growing recognition of the potential of marine-based functional foods and combination therapies in promoting a healthy lifestyle and exploring their effectiveness in preventing or treating diseases. The combination of marine bioactive compounds or extracts offers synergistic or enhancement effects through various mechanisms, including multi-target actions, improved bioavailability, enhanced bioactivity, and mitigation of potential adverse effects. Both the green-lipped mussel (GLM) and fucoidan derived from brown seaweed are rich in bioactivities. These two, mussel and fucoidan, have not been previously formulated together. This study aims to combine GLM oil from Perna canaliculus with low molecular weight fucoidan (LMWF) extracted from Undaria pinnatifida to investigate the unique mixture’s anti-inflammatory and antioxidant properties. The cytotoxicity of individual compounds and combinations was assessed using the MTT assay in (THP-1 and RAW264.7) cell lines. The anti-inflammatory activity of mussel-fucoidan was evaluated by treating LPS-stimulated human monocyte and macrophage (THP1-1) cells. Subsequently, the inflammatory cytokines released into the supernatant of these cell lines were quantified via ELISA. Antioxidant activity was determined by using the free radical scavenging assay (DPPH). DPPH assay demonstrated that the radical scavenging activity of the combinations, particularly at concentrations exceeding 1 mg/ml, showed a significantly higher percentage of inhibition when compared to the individual component. This suggests an enhancement effect when the two compounds are combined, leading to increased antioxidant activity. In terms of immunomodulatory activity, the individual compounds exhibited distinct behaviors. GLM oil displayed a higher ability to suppress the cytokine TNF- compared to LMWF. Interestingly, the LMWF fraction, when used individually, did not demonstrate TNF- suppression. However, when combined with GLM, the TNF- suppression (anti-inflammatory) activity of the combination was better than GLM or LWMF alone. This observation underscores the potential for enhancement interactions between the two components in terms of anti-inflammatory properties. This study revealed that each individual compound, LMWF, and GLM, possesses unique and notable bioactivity. The combination of these two individual compounds results in an enhancement effect, where the bioactivity of each is enhanced, creating a superior combination. This suggests that the combination of LMWF and GLM has the potential to offer a more potent and multifaceted therapeutic effect, particularly in the context of antioxidant and anti-inflammatory activities. These findings hold promise for the development of novel therapeutic interventions or supplements that harness the enhancement effects.

Keywords: formation damage, porosity loses, pore throat, quartz cement

Procedia PDF Downloads 57

Authors: Houda Najeh, Stéphane Ploix, Mahendra Pratap Singh, Karim Chabir, Mohamed Naceur Abdelkrim

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Building systems are highly vulnerable to different kinds of faults and failures. In fact, various faults, failures and human behaviors could affect the building performance. This paper tackles the detection of unreliable sensors in buildings. Different literature surveys on diagnosis techniques for sensor grids in buildings have been published but all of them treat only bias and outliers. Occurences of data gaps have also not been given an adequate span of attention in the academia. The proposed methodology comprises the automatic thresholding for data gap detection for a set of heterogeneous sensors in instrumented buildings. Sensor measurements are considered to be regular time series. However, in reality, sensor values are not uniformly sampled. So, the issue to solve is from which delay each sensor become faulty? The use of time series is required for detection of abnormalities on the delays. The efficiency of the method is evaluated on measurements obtained from a real power plant: an office at Grenoble Institute of technology equipped by 30 sensors.

Keywords: building system, time series, diagnosis, outliers, delay, data gap

Procedia PDF Downloads 245

Authors: Jawaad Saleem, Hannah Wright, Peter Sommerville, Adrian Hopper

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Introduction: Inpatient falls are the most commonly reported patient safety incidents, and carry a significant burden on resources, morbidity, and mortality. Ensuring adequate post falls management of patients by staff is therefore paramount to maintaining patient safety especially in out of hours and resource stretched settings. Aims: This quality improvement project aims to improve the current practice of falls management at Guys St Thomas Hospital, London as compared to our 2016 Quality Improvement Project findings. Furthermore, it looks to increase current junior doctors confidence in managing falls and their use of new guidance protocols. Methods: Multifaceted Interventions implemented included: the development of new trust wide guidelines detailing management pathways for patients post falls, available for intranet access. Furthermore, the production of 2000 lanyard cards distributed amongst junior doctors and staff which summarised these guidelines. Additionally, a ‘safety signal’ email was sent from the Trust chief medical officer to all staff raising awareness of falls and the guidelines. Formal falls teaching was also implemented for new doctors at induction. Using an established incident database, 189 consecutive falls in 2017were retrospectively analysed electronically to assess and compared to the variables measured in 2016 post interventions. A separate serious incident database was used to analyse 50 falls from May 2015 to March 2018 to ascertain the statistical significance of the impact of our interventions on serious incidents. A similar questionnaire for the 2017 cohort of foundation year one (FY1) doctors was performed and compared to 2016 results. Results: Questionnaire data demonstrated improved awareness and utility of guidelines and increased confidence as well as an increase in training. 97% of FY1 trainees felt that the interventions had increased their awareness of the impact of falls on patients in the trust. Data from the incident database demonstrated the time to review patients post fall had decreased from an average of 130 to 86 minutes. Improvement was also demonstrated in the reduced time to order and schedule X-ray and CT imaging, 3 and 5 hours respectively. Data from the serious incident database show that ‘the time from fall until harm was detected’ was statistically significantly lower (P = 0.044) post intervention. We also showed the incidence of significant delays in detecting harm ( > 10 hours) reduced post intervention. Conclusions: Our interventions have helped to significantly reduce the average time to assess, order and schedule appropriate imaging post falls. Delays of over ten hours to detect serious injuries after falls were commonplace; since the intervention, their frequency has markedly reduced. We suggest this will lead to identifying patient harm sooner, reduced clinical incidents relating to falls and thus improve overall patient safety. Our interventions have also helped increase clinical staff confidence, management, and awareness of falls in the trust. Next steps include expanding teaching sessions, improving multidisciplinary team involvement to aid this improvement.

Keywords: patient safety, quality improvement, serious incidents, falls, clinical care

Procedia PDF Downloads 124

Authors: Puttaswamy, Anwar Alwardi, Nayaka S. R.

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One of the algebraic representation of a graph is the graph polynomial. In this article, we introduce the paired-domination polynomial of a graph G. The paired-domination polynomial of a graph G of order n is the polynomial Dp(G, x) with the coefficients dp(G, i) where dp(G, i) denotes the number of paired dominating sets of G of cardinality i and γpd(G) denotes the paired-domination number of G. We obtain some properties of Dp(G, x) and its coefficients. Further, we compute this polynomial for some families of standard graphs. Further, we obtain some characterization for some specific graphs.

Keywords: domination polynomial, paired dominating set, paired domination number, paired domination polynomial

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Authors: Nayaka S.R., Putta Swamy, Purushothama S.

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Let G=(V, E) be a graph. A dominating set S in G is a pendant dominating set if < S > contains a pendant vertex. A pendant dominating set of G which intersects every minimum pendant dominating set in G is called a transversal pendant dominating set. The minimum cardinality of a transversal pendant dominating set is called the transversal pendant domination number of G, denoted by γ_tp(G). In this paper, we begin to study this parameter. We calculate γ_tp(G) for some families of graphs. Furthermore, some bounds and relations with other domination parameters are obtained for γ_tp(G).

Keywords: dominating set, pendant dominating set, pendant domination number, transversal pendant dominating set, transversal pendant domination number

Procedia PDF Downloads 182

Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

Procedia PDF Downloads 203