Search results for: associated risk factors

Authors: Azadeh Golshan, Craig Evans, Phillip Geary, Abigail Morrow, Zoe Rogers, Marcel Maeder

Abstract:

22 physicochemical variables have been determined in water samples collected weekly from January to December in 2013 from three sampling stations located within a major drinking water reservoir. Classical Multivariate Curve Resolution Alternating Least Squares (MCR-ALS) analysis was used to investigate the environmental factors associated with the physico-chemical variability of the water samples at each of the sampling stations. Matrix augmentation MCR-ALS (MA-MCR-ALS) was also applied, and the two sets of results were compared for interpretative clarity. Links between these factors, reservoir inflows and catchment land-uses were investigated and interpreted in relation to chemical composition of the water and their resolved geographical distribution profiles. The results suggested that the major factors affecting reservoir water quality were those associated with agricultural runoff, with evidence of influence on algal photosynthesis within the water column. Water quality variability within the reservoir was also found to be strongly linked to physical parameters such as water temperature and the occurrence of thermal stratification. The two methods applied (MCR-ALS and MA-MCR-ALS) led to similar conclusions; however, MA-MCR-ALS appeared to provide results more amenable to interpretation of temporal and geological variation than those obtained through classical MCR-ALS.

Keywords: drinking water reservoir, multivariate analysis, physico-chemical parameters, water quality

Procedia PDF Downloads 293

Authors: Phil P. Wagner

Abstract:

There is an overwhelming amount of athlete-centric information available for sport practitioners in this era of tech and big data, but protocols in athletic rehabilitation remain arbitrary. It is a common assumption that the rate at which tissue heals amongst individuals is the same; yielding protocols that are entirely time-based. Progressing athletes through rehab programs that lack individualization can potentially expose athletes to stimuli they are not prepared for or unnecessarily lengthen their recovery period. A 7-year aggregated and anonymous database was used to develop reliable and valid assessments to measure athletic resilience. Each assessment utilizes force plate technology with proprietary protocols and analysis to provide key thresholds for injury risk and recovery. Using a T score to analyze movement qualities, much like the Z score used for bone density from a Dexa scan, specific prescriptions are provided to mitigate the athlete’s inherent injury risk. In addition to obliging to surgical clearance, practitioners must put in place a clearance protocol guided by standardized assessments and achievement in strength thresholds. In order to truly hold individuals accountable (practitioners, athletic trainers, performance coaches, etc.), success in improving pre-defined key performance indicators must be frequently assessed and analyzed.

Keywords: analytics, athlete rehabilitation, athlete resilience, injury prediction, injury prevention

Procedia PDF Downloads 231

Authors: Abdel Rahman Khider Hassan

Abstract:

This paper describes a multi-criteria geospatial model for prediction of landslide hazard zonation (LHZ) for Lake Naivasha catchment (Kenya), based on spatial analysis of integrated datasets of location intrinsic parameters (slope stability factors) and external landslides triggering factors (natural and man-made factors). The intrinsic dataset included: lithology, geometry of slope (slope inclination, aspect, elevation, and curvature) and land use/land cover. The landslides triggering factors included: rainfall as the climatic factor, in addition to the destructive effects reflected by proximity of roads and drainage network to areas that are susceptible to landslides. No published study on landslides has been obtained for this area. Thus, digital datasets of the above spatial parameters were conveniently acquired, stored, manipulated and analyzed in a Geographical Information System (GIS) using a multi-criteria grid overlay technique (in ArcGIS 10.2.2 environment). Deduction of landslide hazard zonation is done by applying weights based on relative contribution of each parameter to the slope instability, and finally, the weighted parameters grids were overlaid together to generate a map of the potential landslide hazard zonation (LHZ) for the lake catchment. From the total surface of 3200 km² of the lake catchment, most of the region (78.7 %; 2518.4 km²) is susceptible to moderate landslide hazards, whilst about 13% (416 km²) is occurring under high hazards. Only 1.0% (32 km²) of the catchment is displaying very high landslide hazards, and the remaining area (7.3 %; 233.6 km²) displays low probability of landslide hazards. This result confirms the importance of steep slope angles, lithology, vegetation land cover and slope orientation (aspect) as the major determining factors of slope failures. The information provided by the produced map of landslide hazard zonation (LHZ) could lay the basis for decision making as well as mitigation and applications in avoiding potential losses caused by landslides in the Lake Naivasha catchment in the Kenya Highlands.

Keywords: decision making, geospatial, landslide, multi-criteria, Naivasha

Procedia PDF Downloads 210

Authors: Nia McRae, Robert Wright, Ghalib Bello

Abstract:

Introduction: Postpartum depression is a prevalent mood disorder that is detrimental to the mental and physical health of mothers and their newborns. Lead (Pb) is a toxic metal that is associated with hormonal imbalance and mental impairments. The hormone changes that accompany pregnancy and childbirth may be exacerbated by Pb and increase new mothers’ susceptibility to postpartum depression. To the best of the author’s knowledge, this is the only study that investigates the association between prenatal Pb exposure and postpartum depression. Identifying risk factors can contribute to improved prevention and treatment strategies for postpartum depression. Methods: Data was derived from the Programming Research in Obesity, Growth, Environment and Social Stress (PROGRESS) study which is an ongoing longitudinal birth cohort. Postpartum depression was identified by a score of 13 or above on the 10-Item Edinburg Postnatal Depression Scale (EPDS) 6-months and 12-months postpartum. Pb was measured in the blood (BPb) in the second and third trimester and in the tibia and patella 1-month postpartum. Quantile regression models were used to assess the relationship between BPb and postpartum depression. Results: BPb in the second trimester was negatively associated with the 80th percentile of depression 6-months postpartum (β: -0.26; 95% CI: -0.51, -0.01). No significant association was found between BPb in the third trimester and depression 6-months postpartum. BPb in the third trimester exhibited an inverse relationship with the 60th percentile (β: -0.23; 95% CI: -0.41, -0.06), 70th percentile (β: -0.31; 95% CI: -0.52, -0.10), and 90th percentile of depression 12-months postpartum (β: -0.36; 95% CI: -0.69, -0.03). There was no significant association between BPb in the second trimester and depression 12-months postpartum. Bone Pb concentrations were not significantly associated with postpartum depression. Conclusion: The negative association between BPb and postpartum depression may support research which demonstrates lead is a nontherapeutic stimulant. Further research is needed to verify these results and identify effect modifiers.

Keywords: depression, lead, postpartum, prenatal

Procedia PDF Downloads 229

Authors: William Cheng, Yuni Astria, Rini Sekartini

Abstract:

Background: Prevalence of anemia among school-aged children is relatively high (25.4%). This condition can affect children’s life, including cognitive function. One of the most common factors that is associated with anemia in children is nutritional status. This simple indicator will be very helpful in identifying more population at risk. The aim of this study is to correlate the clinical implication of nutritional status to the prevalence of anemia in children, with intention to determine a more effective nutritional status indicator in detecting anemia. Method: Anthropometric and haemoglobin status were gathered from children between 5 to 7-years-old in one of the urban areas in Jakarta in 2012. We identified children with haemoglobin level under 11.5 as anemia and correlated them to their WHO z-score from each of these indicators: Body Weight for Age (normal weight and underweight), Height for Age (not stunted and stunted), and Body Mass Index for Age (not wasted and wasted). Results: A total of 195 children were included in this research and 57 of them (29,2%) were diagnosed as anemia. The majority of the children had good nutritional status, however, 30 (15,4%) of them were found to be underweight, 33 (16,9%) were stunted, and 1 children (0,5%) was wasted. There were no overweight result found in this population. From the three nutritional status indicators, none proved to be statistically significant in relation to the incidence of anemia (p>0.05). Out of 33 children who were diagnosed as stunted, 36.36 % were found to have anemia, in comparison to 27,7% of children who were not stunted. Meanwhile, among 30 children who were diagnosed as underweight, 33,3 % of them were anemic whereas only 28,4% of the normal weight group were anemic. Conclusion: In this study, there is no significant correlation between anemia with any nutritional status indicator. However, more than a third of the stunted children are proven to have low haemoglobin status. The finding of stunting in children should be given more attention to further investigate for anemia.

Keywords: school-aged children, nutritional status, anemia, pediatrics

Procedia PDF Downloads 565

Authors: Khishig-Undrakh Mijgee, Yerkyejan Amanbyek, Yilina, Bayarkhuu Agvaanbayar, Anudari Chingiskhuu

Abstract:

The study of happiness focuses on how people perceive their well-being, the ways they seek happiness, and the factors that affect their feelings of happiness, including self-esteem, depression, satisfaction, and the quality of life. Researchers also aim to explore the relationship between happiness, self-esteem, depression, satisfaction, and quality of life, with the goal of assessing people's sense of achievement. Happiness is strongly linked to an individual's sense of achievement and overall life satisfaction. In this article, we will discuss the findings of a study that examines the feelings of happiness and the factors that influence them among 562 high school students.

Keywords: happiness, high school students, feelings of happiness, happiness level

Procedia PDF Downloads 58

Authors: Marzieh Sayyad, Mohsen Salesi

Abstract:

Metabolic syndrome (MetS), a collection of cardiometabolic risk factors, is linked to the development of cardiovascular disease (CVD) and diabetes. The prevalence of MetS is on the rise with more women affected than men. The goal of this study was to compare the effects of resistance and aerobic exercise training on metabolic syndrome components in non-athlete, middle-aged woman. 51 non-athlete overweight female participated voluntarily in this study. Participants were divided randomly into three groups including resistance, aerobic and control group (number of each group 17). 24 hours before the beginning of training program, the blood sample was taken in fasting state. The two training groups participated in sport activities for eight weeks, three times a week duration 60-90 minutes. Two days following the end of the 8th week, all the measurements were performed similar to the pretest phase. The data was analyzed using one-way analysis of variance. The results showed that aerobic exercise training significantly decreased weight (p=.05), triglyceride (p<0.01) and systolic blood pressure (p<0.02) and HDL-c (p<0.01) was significantly increased. Also in resistance exercise training group TG decreased significantly (p<0.01) and HDL-c (p<0.05) was significantly increased. This study demonstrated that a regular physical activity program improved several metabolic and physiological parameters in healthy, previously sedentary subjects with the metabolic syndrome. In conclusion, it seems that this type of training can be efficient, safe and inexpensive way in order to reduce and prevent metabolic syndrome.

Keywords: aerobic exercise, metabolic syndrome, overweight sedentary female, resistance exercise

Procedia PDF Downloads 310

Authors: Novutry Siregar, Afdal, Emilzon Taslim

Abstract:

Hyaline Membrane Disease (HMD) is the main cause of respiratory failure in preterm neonates caused by surfactant deficiency. Nasal Continuous Positive Airway Pressure (NCPAP) is the therapy for HMD. The success of therapy is determined by gestational age, birth weight, HMD grade, time of NCAP administration, and time of breathing frequency recovery. The aim of this research is to identify the predictive factor of NCPAP therapy success in preterm neonates with HMD. This study used a cross-sectional design by using medical records of patients who were treated in the Perinatology of the Pediatric Department of Dr. M. Djamil Padang Central Hospital from January 2015 to December 2017. The samples were eighty-two neonates that were selected by using the total sampling technique. Data analysis was done by using the Chi-Square Test and the Multiple Logistic Regression Prediction Model. The results showed the success rate of NCPAP therapy reached 53.7%. Birth weight (p = 0.048, OR = 3.34 95% CI 1.01-11.07), HMD grade I (p = 0.018, OR = 4.95 CI 95% 1.31-18.68), HMD grade II (p = 0.044, OR = 5.52 95% CI 1.04-29.15), and time of breathing frequency recovery (p = 0,000, OR = 13.50 95% CI 3.58-50, 83) are the predictive factors of NCPAP therapy success in preterm neonates with HMD. The most significant predictive factor is the time of breathing frequency recovery.

Keywords: predictive factors, the success of therapy, NCPAP, preterm neonates, HMD

Procedia PDF Downloads 71

Authors: Victoria L. Nkosi, Parvaneh Farhangpour

Abstract:

Often a Grade 12 certificate is perceived as a passport to tertiary education and the minimum requirement to enter the world of work. In spite of its importance, many students do not make this milestone in South Africa. It is important to find out why so many students still fail in spite of transformation in the education system in the post-apartheid era. Given the complexity of education and its context, this study adopted a case study design to examine one historically underperforming high school in Bushbuckridge, Mpumalanga Province, South Africa in 2013. The aim was to gain a understanding of the inner and outer school contextual factors associated with the high failure rate among Grade 12 students.  Government documents and reports were consulted to identify factors in the district and the village surrounding the school and a student survey was conducted to identify school, home and student factors. The randomly-sampled half of the population of Grade 12 students (53) participated in the survey and quantitative data are analyzed using descriptive statistical methods. The findings showed that a host of factors is at play. The school is located in a village within a municipality which has been one of the poorest three municipalities in South Africa and the lowest Grade 12 pass rate in the Mpumalanga province.   Moreover, over half of the families of the students are single parents, 43% are unemployed and the majority has a low level of education. In addition, most families (83%) do not have basic study materials such as a dictionary, books, tables, and chairs. A significant number of students (70%) are over-aged (+19 years old); close to half of them (49%) are grade repeaters. The school itself lacks essential resources, namely computers, science laboratories, library, and enough furniture and textbooks. Moreover, teaching and learning are negatively affected by the teachers’ occasional absenteeism, inadequate lesson preparation, and poor communication skills. Overall, the continuous low performance of students in this school mirrors the vicious circle of multiple negative conditions present within and outside of the school. The complexity of factors associated with the underperformance of Grade 12 students in this school calls for a multi-dimensional intervention from government and stakeholders. One important intervention should be the placement of over-aged students and grade-repeaters in suitable educational institutions for the benefit of other students.

Keywords: inner context, outer context, over-aged students, vicious cycle

Procedia PDF Downloads 205

Authors: Nervana Elbakary, Sami Ouanes, Sadaf Riaz, Oraib Abdallah, Islam Mahran, Noriya Al-Khuzaei, Yassin Eltorki

Abstract:

Major Depressive Disorder (MDD) requires therapeutic interventions during the initial month after being diagnosed for better disease outcomes. International guidelines recommend a duration of 4–12 weeks for an initial antidepressant (IAD) trial at an optimized dose to get a response. If depressive symptoms persist after this duration, guidelines recommend switching, augmenting, or combining strategies as the next step. Most patients with MDD in the mental health setting have been labeled incorrectly as treatment-resistant where in fact they have not been subjected to an adequate trial of guideline-recommended therapy. Premature discontinuation of IAD due to ineffectiveness can cause unfavorable consequences. Avoiding irrational practices such as subtherapeutic doses of IAD, premature switching between the ADs, and refraining from unjustified polypharmacy can help the disease to go into a remission phase We aimed to determine the prevalence and the patterns of strategies applied after an IAD was changed because of a suboptimal response as a primary outcome. Secondary outcomes included the median survival time on IAD before any change; and the predictors that were associated with IAD change. This was a retrospective cross- sectional study conducted in Mental Health Services in Qatar. A dataset between January 1, 2018, and December 31, 2019, was extracted from the electronic health records. Inclusion and exclusion criteria were defined and applied. The sample size was calculated to be at least 379 patients. Descriptive statistics were reported as frequencies and percentages, in addition, to mean and standard deviation. The median time of IAD to any change strategy was calculated using survival analysis. Associated predictors were examined using two unadjusted and adjusted cox regression models. A total of 487 patients met the inclusion criteria of the study. The average age for participants was 39.1 ± 12.3 years. Patients with first experience MDD episode 255 (52%) constituted a major part of our sample comparing to the relapse group 206(42%). About 431 (88%) of the patients had an occurrence of IAD change to any strategy before end of the study. Almost half of the sample (212 (49%); 95% CI [44–53%]) had their IAD changed less than or equal to 30 days. Switching was consistently more common than combination or augmentation at any timepoint. The median time to IAD change was 43 days with 95% CI [33.2–52.7]. Five independent variables (age, bothersome side effects, un-optimization of the dose before any change, comorbid anxiety, first onset episode) were significantly associated with the likelihood of IAD change in the unadjusted analysis. The factors statistically associated with higher hazard of IAD change in the adjusted analysis were: younger age, un-optimization of the IAD dose before any change, and comorbid anxiety. Because almost half of the patients in this study changed their IAD as early as within the first month, efforts to avoid treatment failure are needed to ensure patient-treatment targets are met. The findings of this study can have direct clinical guidance for health care professionals since an optimized, evidence-based use of AD medication can improve the clinical outcomes of patients with MDD; and also, to identify high-risk factors that could worsen the survival time on IAD such as young age and comorbid anxiety

Keywords: initial antidepressant, dose optimization, major depressive disorder, comorbid anxiety, combination, augmentation, switching, premature discontinuation

Procedia PDF Downloads 157

Authors: Selina Lin, Justin M Fan, Vincent Zhang, Cindy Chen, Daniel Lam, Jason Yan, Ning Zhang

Abstract:

Depression is one of the most common mental disorders in the United States, and past studies have shown a concerning increase in the rates of depression in youth populations over time. Furthermore, depression is an especially important issue for Asian Americans because of the anti-Asian violence taking place during the COVID-19 pandemic. While Asian American adolescents are reluctant to seek help for mental health issues, past research has found a prevalence of depressive symptoms in them that have yet to be fully investigated. There have been studies conducted to understand and observe the impacts of multifarious factors influencing the mental well-being of Asian American adolescents; however, they have been generally limited to qualitative investigation, and very few have attempted to quantitatively evaluate the relationship between depression levels and a comprehensive list of factors for those levels at the same time. To better quantify these relationships, this project investigated the prevalence of depression in Asian American teenagers mainly from the Greater Philadelphia Region, aged 12 to 19, and, with an anonymous survey, asked participants 48 multiple-choice questions pertaining to demographic information, daily behaviors, school life, family life, depression levels (quantified by the PHQ-9 assessment), school and family support against depression. Each multiple-choice question was assigned as a factor and variable for statistical and dominance analysis to determine the most influential factors on depression levels of Asian American adolescents. The results were validated via Bootstrap analysis and t-tests. While certain influential factors identified in this survey are consistent with the literature, such as parent-child relationship and peer pressure, several dominant factors were relatively overlooked in the past. These factors include the parents’ relationship with each other, the satisfaction with body image, sex identity, support from the family and support from the school. More than 25% of participants desired more support from their families and schools in handling depression issues. This study implied that it is beneficial for Asian American parents and adolescents to take programs on parents’ relationships with each other, parent-child communication, mental health, and sexual identity. A culturally inclusive school environment and more accessible mental health services would be helpful for Asian American adolescents to combat depression. This survey-based study paved the way for further investigation of effective approaches for helping Asian American adolescents against depression.

Keywords: Asian American adolescents, depression, dominance analysis, t-test, bootstrap analysis

Procedia PDF Downloads 142

Authors: Safoin Aktaou, Aya Al Masri, Kamel Guerchouche, Malorie Martin, Fouad Maaloul

Abstract:

Introduction: In the ‘Magnetic Resonance Imaging (MRI)’ department, all workers involved in preparing the patient, setting it up, tunnel cleaning, etc. are likely to be exposed to ‘ElectroMagnetic fields (EMF)’ emitted by the MRI device. Exposure to EMF can cause adverse radio-biological effects to workers. The purpose of this study is to propose an organizational process to manage and control EMF risks. Materials and methods: The study was conducted at seven MRI departments using machines with 1.5 and 3 Tesla magnetic fields. We assessed the exposure of each one by measuring the two electromagnetic fields (static and dynamic) at different distances from the MRI machine both inside and around the examination room. Measurement values were compared with British and American references (those of the UK's ‘Medicines and Healthcare Regulatory Agency (MHRA)’ and the ‘American Radiology Society (ACR)’). Results: Following the results of EMF measurements and their comparison with the recommendations of learned societies, a zoning system that adapts to needs of different MRI services across the country has been proposed. In effect, three risk areas have been identified within the MRI services. This has led to the development of a good practice guide related to the magnetic protection of MRI workers. Conclusion: The guide established by our study is a standard that allows MRI workers to protect themselves against the risk of electromagnetic fields.

Keywords: comparison with international references, measurement of electromagnetic fields, magnetic protection of workers, magnetic resonance imaging

Procedia PDF Downloads 172

Authors: Bashaiar Alsanaa

Abstract:

Emerging technologies present human interaction with new challenges. Individuals are required to interact and collaborate to achieve mutual gain. Accomplishing shared goals requires all parties involved to trust others’ commitment to fulfilling their specified obligations. Trust is harder to establish when groups work virtually and members transcend time, space, and culture. This paper identifies the importance of trust in virtual groups of students at Kuwait University by exposing them to electronic projects on which they collaborate. Students respond to a survey to assess their range of trust within their teams and how the outcome is affected. Gender differences and other demographic factors are analyzed to understand results and rates of trust. The paper concludes with summarizing factors influencing trust development and possible implications.

Keywords: groups, students, trust, virtual

Procedia PDF Downloads 296

Authors: Seyed Esmail Seyedi Bariran, Khairul Salleh Mohamed Sahari

Abstract:

Apparent quality defects such as warpage, shrinkage, weld line, etc. are such an irresistible phenomenon in mass production of auto plastic appearance parts. These frequently occurred manufacturing defects should be satisfied concurrently so as to achieve a final product with acceptable quality standards. Determining the significant control factors that simultaneously affect multiple quality characteristics can significantly improve the optimization results by eliminating the deviating effect of the so-called ineffective outliers. Hence, a robust quantitative approach needs to be developed upon which major control factors and their level can be effectively determined to help improve the reliability of the optimal processing parameter design. Hence, the primary objective of current study was to develop a systematic methodology for selection of significant control factors (SCF) relevant to multiple quality optimization of auto plastic appearance part. Auto bumper was used as a specimen with the most identical quality and production characteristics to APAP group. A preliminary failure modes and effect analysis (FMEA) was conducted to nominate a database of pseudo significant significant control factors prior to the optimization phase. Later, CAE simulation Moldflow analysis was implemented to manipulate four rampant plastic injection quality defects concerned with APAP group including warpage deflection, volumetric shrinkage, sink mark and weld line. Furthermore, a step-backward elimination searching method (SESME) has been developed for systematic pre-optimization selection of SCF based on hierarchical orthogonal array design and priority-based one-way analysis of variance (ANOVA). The development of robust parameter design in the second phase was based on DOE module powered by Minitab v.16 statistical software. Based on the F-test (F 0.05, 2, 14) one-way ANOVA results, it was concluded that for warpage deflection, material mixture percentage was the most significant control factor yielding a 58.34% of contribution while for the other three quality defects, melt temperature was the most significant control factor with a 25.32%, 84.25%, and 34.57% contribution for sin mark, shrinkage and weld line strength control. Also, the results on the he least significant control factors meaningfully revealed injection fill time as the least significant factor for both warpage and sink mark with respective 1.69% and 6.12% contribution. On the other hand, for shrinkage and weld line defects, the least significant control factors were holding pressure and mold temperature with a 0.23% and 4.05% overall contribution accordingly.

Keywords: plastic injection moulding, quality optimization, FMEA, ANOVA, SESME, APAP

Procedia PDF Downloads 352

Authors: Imad Buishi, Almabrouk Fares, Hallowma Helmi

Abstract:

Infection with verocytotoxin-producing Escherichia coli O157 in humans can lead to mild or bloody diarrhea with the hemolytic uremic syndrome (HUS) as a possible complication. Cattle appear to be important reservoirs for VTEC O157. Epidemiologic studies on the prevalence of VTEC O157 in dairy cattle in Libya have never been conducted. To investigate the prevalence and the risk factors associated with VTEC O157 on dairy farms in Tripoli region, fecal samples from 200 apparently healthy cows were collected once from 15 randomly selected dairy farms in the period July 2010 through September 2010. All fecal samples were examined for the prevalence of VTEC O157 by conventional plating using Sorbitol-MacConkey agar (SMAC). Isolated of E. coli were subjected to slide agglutination test using E. coli O157 antiserum. The results pointed out that the prevalence within-herd and among herds were 9% and 60% respectively. The prevalence of VTEC O157 in fecal samples of dairy cattle was significantly associated with husbandry practices on farm-level such as signs of diarrhoea (p=0.02, OR=3.2) and sharing water trough (p= 0.03, OR=3.0). It was concluded that dairy cattle in Tripoli area are important reservoirs of VTEC O157 strains that are potentially pathogenic for humans. When aiming at reducing risks for human by intervention at farm-level, it is of importance to reduce the number of positive animals and farms. For this, more research is needed to devise mitigation strategies that will reduce the on-farm contamination of VTEC O157.

Keywords: VTEC O157, prevalence, dairy cattle, tripoli

Procedia PDF Downloads 690

Authors: Jingjing Yan, Gengen He, Anahid Basiri

Abstract:

The design of an indoor navigation system for fire evacuation support requires not only physical feasibility but also a relatively thorough consideration of the human factors. This study has taken a survey to investigate the fire response performances (FRP) of the indoor occupants in age of 20s, virtually in an environment for their routine life, focusing on the aspects of indoor familiarity (spatial cognition), psychological stress and decision makings. For indoor familiarity, it is interested in three factors, i.e., the familiarity to exits and risky places as well as the satisfaction degree of the current indoor sign installation. According to the results, males have a higher average familiarity with the indoor exits while both genders have a relatively low level of risky place awareness. These two factors are positively correlated with the satisfaction degree of the current installation of the indoor signs, and this correlation is more evident for the exit familiarity. The integration of the height factor with the other two indoor familiarity factors can improve the degree of indoor sign satisfaction. For psychological stress, this study concentrates on the situated cognition of moving difficulty, nervousness, and speed reduction when using a bending posture during the fire evacuation to avoid smoke inhalation. The results have shown that both genders have a similar mid-level of hardness sensation. The females have a higher average level of nervousness, while males have a higher average level of speed reduction sensation. This study has assumed that the growing indoor spatial cognition can help ease the psychological hardness and nervousness. However, it only seems to be true after reaching a certain level. When integrating the effects from indoor familiarity and the other two psychological factors, the correlation to the sensation of speed change can be strengthened, based on a stronger positive correlation with the integrated factors. This study has also investigated the participants’ attitude to the navigation support during evacuation, and the majority of the participants have shown positive attitudes. For following the guidance under some extreme cases, i.e., changing to a longer path and to an alternative exit, the majority of the participants has shown the confidence of keeping trusting the guidance service. These decisions are affected by the combined influences from indoor familiarity, psychological stress, and attitude of using navigation service. For the decision time of the selected extreme cases, it costs more time in average for deciding to use a longer route than to use an alternative exit, and this situation is more evident for the female participants. This requires further considerations when designing a personalized smartphone-based navigation app. This study has also investigated the calming factors for people being trapped during evacuation. The top consideration is the distance to the nearest firefighters, and the following considerations are the current fire conditions in the surrounding environment and the locations of all firefighters. The ranking of the latter two considerations is very gender-dependent according to the results.

Keywords: fire response performances, indoor spatial cognition, situated cognition, survey analysis

Procedia PDF Downloads 148

Authors: Chengwei Wang, Shuqing Xu, Philipp M. Schlüter

Abstract:

The genus Ophrys is remarkable for its mimicry, flower-lip closely resembling pollinator females in a species-specific manner. Therefore, floral traits associated with pollinator attraction, especially scent, are suitable models for investigating the molecular basis of adaption, speciation, and evolution. Within the two Ophrys species groups: O. sphegodes (S) and O. fusca (F), pollinator shifts among the same insect species have taken place. Preliminary data suggest that they involve a comparable hydrocarbon profile in their scent, which is mainly composed of alkanes and alkenes. Genes encoding stearoyl-acyl carrier protein desaturases (SAD) involved in alkene biosynthesis have been identified in the S group. This study aims to investigate the control and parallel evolution of ecologically significant alkene production in Ophrys. Owing to the central role those SAD genes play in determining positioning of the alkene double-bonds, a detailed understanding of their functional mechanism and of regulatory aspects is of utmost importance. We have identified 5 transcription factors potentially related to SAD expression in O. sphegodes which belong to the MYB, GTE, WRKY, and MADS families. Ultimately, our results will contribute to understanding genes important in the regulatory control of floral scent synthesis.

Keywords: floral traits, transcription factors, biosynthesis, parallel evolution

Procedia PDF Downloads 108

Authors: Beverly Komen

Abstract:

Online crimes have been on the rise in the recent days, especially with the hit of the covid-19 pandemic. The coronavirus pandemic has led to an unprecedented rise in screen time, this means more families are relying on technology and digital solutions to keep children learning, spending more time on the virtual platforms can leave children vulnerable to online abuse and exploitation. With ease access of affordable phones, internet, and increased online activities, all children are at risk of being abused online hence making the digital space unsafe for children. With these increased use of technology and its accessibility, children are at risk of facing challenges such as access to inappropriate content, online grooming, identity theft, cyber bullying, among other risks. The big question is; as we enjoy the benefits brought in by technology, how do we ensure that our children are save in this digital space? With the analysis of the current trends, there is a gap in knowledge on people’s understanding on child online protection and safety measures when using the digital space. A survey conducted among 50 parents in Nairobi in Kenya indicated that there is a gap in knowledge on online protection of children and over 50 % of the participants shared that for sure they have no idea on how to protect children online. This paper seeks to address the concept of child protection in the digital space and come up with viable solutions in protecting children from online vices.

Keywords: child protection, digital space, online risks, online grooming, cyber bulying, online child sexual exploitation, and abuse

Procedia PDF Downloads 191

Authors: Chenxi Liao, Mizuho Akimoto, Mariya Bivolarova, Sekhar Chandra, Xiaojun Fan, Li Lan, Jelle Laverge, Pawel Wargocki

Abstract:

The bedroom environment plays an important role in maintaining good sleep quality, which is vital for humans health and next-day performance. A survey of the sleep-disturbed bedroom environmental factors and the occupants’ bedroom windows (BW) or bedroom door (BD) opening behaviors was launched in the capital region of Denmark in 2020 by an online questionnaire. People were asked if they were disturbed by too warm temperature, too cool temperature, noise, or stuffy air during sleep. Also, they reported their BW or the BD opening behaviors in the morning, afternoon, evening, and during sleep. A total of 512 responses were received. Too warm temperature was reported the most among the four sleep-disturbed factors, following too cool temperature, noise, and stuffy air. Whether or not opening BW or the BD was commonly used to improve or change the bedroom environment. The respondents who were disturbed by too warm temperature during sleep opened BW for a longer time in the morning compared to those who were never disturbed by it (OR, 1.28; 95% CI, 1.01-1.62). Those who were disturbed by too cool temperatures tended to open BW less frequently in the morning (OR, 1.24; 95% CI, 0.97-1.57). They preferred keeping BW open in the whole day if they realized stuffy air disturbing their sleep, although only a few of them still opened BW during sleep. Those who were disturbed by too cool temperature (OR, 0.76; 95% CI, 0.63-0.92) and noise (OR, 0.80; 95% CI, 0.66-0.96) were more likely to sleep with the BD open in a lesser frequency. Opening BW, increasing ventilation rates, could relieve disturbing by stuffy air during sleep, but induced other sleep-disturbed factors such as too cool in winter and noise. Also, opening BW only when people were not sleep was not sufficient to exempt disturbing by stuffy air during sleep. Using mechanical ventilation in bedrooms is necessary to ensure good air quality and meanwhile to avoid thermal discomfort and noise during sleep. Future studies are required to figure out the required flow rate of fresh air of mechanical ventilation during sleep.

Keywords: bedroom environmental, survey, occupants behaviors, windows, door

Procedia PDF Downloads 213

Authors: Nyimas Annissa Mutiara Andini

Abstract:

There are 325,000 children younger than age 15 in the U.S. have epilepsy. In Indonesia, 40% of 3,5 millions cases of epilepsy happens in children. The most common type of epilepsy, which affects 6 out of 10 people with the disorder, is called idiopathic epilepsy and which has no identifiable cause. One of the most commonly used medications in the treatment of this childhood epilepsy is sodium valproate. Administration of sodium valproat in children has a problem to fail. Nearly 60% of pediatric patients known were mildly, moderately, or severely non-adherent with therapy during the first six months of treatment. Many parents or caregiver took far less medication than prescribed, and the treatment-adherence pattern for the majority of patients was established during the first month of treatment. 42% of the patients were almost always given their medications as prescribed but 13% had very poor adherence even in the early weeks and months of treatment. About 7% of patients initially gave the medication correctly 90% of the time, but adherence dropped to around 20% within six months of starting treatment. Over the six months of observation, the total missing of administration is about four out of 14 doses in any given week. This fail can cause the epilepsy to relapse. Whereas, current reported epilepsy disorder were significantly more likely than those never diagnosed to experience depression (8% vs 2%), anxiety (17% vs 3%), attention-deficit/hyperactivity disorder (23% vs 6%), developmental delay (51% vs 3%), autism/autism spectrum disorder (16% vs 1%), and headaches (14% vs 5%) (all P< 0.05). They had a greater risk of limitation in the ability to do things (relative risk: 9.22; 95% CI: 7.56–11.24), repeating a school grade (relative risk: 2.59; CI: 1.52–4.40), and potentially having unmet medical and mental health needs. In the other side, technology can help to make our life easier. One of the technology, that we can use is a mobile application. A mobile app is a software program we can download and access directly using our phone. Indonesians are highly mobile centric. They use, on average, 6.7 applications over a 30 day period. This paper is aimed to describe an application that could help to control a sodium valproat administration in children; we call it as D-Epi app. D-Epi app is a downloadable application that can help parents or caregiver alert by a timer-related application to warn whether it is the time to administer the sodium valproat. It works not only as a standard alarm, but also inform important information about the drug and emergency stuffs to do to children with epilepsy. This application could help parents and caregiver to take care a child with epilepsy in Indonesia.

Keywords: application, children, D-Epi, epilepsy

Procedia PDF Downloads 284

Authors: Elif Berna Var

Abstract:

Cultural, physical, socio-economic, or politic changes occurred in urban areas might be resulted in the decaying period which may cause social problems. As a solution to that, urban renewal projects have been used in European countries since World War II whereas they have gained importance in Turkey after the 1980s. The first attempts were mostly related to physical or economic aspects which caused negative effects on social pattern later. Thus, social concerns have also started to include in renewal processes in developed countries. This integrative approach combining social, physical, and economic aspects promotes creating more sustainable neighbourhoods for both current and future generations. However, it is still a new subject for developing countries like Turkey. Concentrating on Trabzon-Turkey, this study highlights the importance of socially sustainable urban renewal processes especially in historical neighbourhoods where protecting the urban identity of the area is vital, as well as social structure, to create sustainable environments. Being in the historic city centre and having remarkable traditional houses, Ortahisar is an important image for Trabzon. Because of the fact that architectural and historical pattern of the area is still visible but need rehabilitations, it is preferred to use 'urban rehabilitation' as a way of urban renewal method for this study. A project is developed by the local government to create a secondary city centre and a new landmark for the city. But it is still ambiguous if this project can provide social sustainability of area which is one of the concerns of the research. In the study, it is suggested that social sustainability of an area can be achieved by several factors. In order to determine the factors affecting the social sustainability of an urban rehabilitation project, previous studies have been analysed and some common features are attempted to define. To achieve this, firstly, several analyses are conducted to find out social structure of Ortahisar. Secondly, structured interviews are implemented to 150 local people which aims to measure satisfaction level, awareness, the expectation of them, and to learn their demographical background in detail. Those data are used to define the critical factors for a more socially sustainable neighbourhood in Ortahisar. Later, the priority of those factors is asked to 50 experts and 150 local people to compare their attitudes and to find common criterias. According to the results, it can be said that social sustainability of Ortahisar neighbourhood can be improved by considering various factors like quality of urban areas, demographical factors, public participation, social cohesion and harmony, proprietorial factors, facilities of education and employment. In the end, several suggestions are made for Ortahisar case to promote more socially sustainable urban neighbourhood. As a pilot study highlighting the importance of social sustainability, it is hoped that this attempt might be the contributory effect on achieving more socially sustainable urban rehabilitation projects in Turkey.

Keywords: urban rehabilitation, social sustainability, Trabzon, Turkey

Procedia PDF Downloads 382

Authors: Hind Bouami, Patrick Millot

Abstract:

Medication dispensing system is a life-critical system whose failure may result in preventable adverse events leading to longer patient stays in hospitals or patient death. Automation has led to great improvements in life-critical systems as it increased safety, efficiency, and comfort. However, critical risks related to medical organization complexity and automated solutions integration can threaten drug dispensing security and performance. Knowledge about the system’s complexity aspects and human machine parameters to control for automated equipment’s security and performance will help operators to secure their automation process and to optimize their system’s reliability. In this context, this study aims to document the operator’s situation awareness about automation risks and parameters involved in automation security and performance. Our risk management approach has been deployed in the North Luxembourg hospital center’s pharmacy, which is equipped with automated drug dispensing systems since 2009. With more than 4 million euros of gains generated, North Luxembourg hospital center’s success story was enabled by the management commitment, pharmacy’s involvement in the implementation and improvement of the automation project, and the close collaboration between the pharmacy and Sinteco’s firm to implement the necessary innovation and organizational actions for automated solutions integration security and performance. An analysis of the actions implemented by the hospital and the parameters involved in automated equipment’s integration security and performance has been made. The parameters to control for automated equipment’s integration security and performance are human aspects (6.25%), technical aspects (50%), and human-machine interaction (43.75%). The implementation of an anthropocentric analysis system before automation would have prevented and optimized the control of risks related to automation.

Keywords: Automated drug delivery systems, Hospitals, Human-centered automated system, Risk management

Procedia PDF Downloads 142

Authors: Fayaz Moosavi, Saeid Moradyfard

Abstract:

One of the methods in avoiding management fraud and increasing the quality of financial information, is the notification of qualitative features of financial information, including conservatism characteristic. Although taking a conservatism approach, while boosting the quality of financial information, is able to reduce the informational risk and the cost of capital stock of commercial department, by presenting an improper image about the situation of the commercial department, raises the risk of failure in returning the main and capital interest, and consequently the cost of capital of the commercial department. In order to know if conservatism finally leads to the increase or decrease of the cost of capital or does not have any influence on it, information regarding accepted companies in Tehran stock exchange is utilized by application of pooling method from 2007 to 2012 and it included 124 companies. The results of the study revealed that there is an opposite and meaningful relationship between conditional conservatism and the cost of capital of the company. In other words, if bad and unsuitable news and signs are reflected sooner than good news in accounting profit, the cost of capital of the company increases. In addition, there is a positive and meaningful relationship between the cost of capital and lack of information asymmetry.

Keywords: conditional conservatism, lack of information asymmetry, the cost of capital, stock exchange

Procedia PDF Downloads 267

Authors: Mazwane S., Makhura M. N., Ginege A.

Abstract:

Digitalization in South Africa has received considerable attention from policymakers. The support for the development of the digital economy by the South African government has been demonstrated through the enactment of various national policies and strategies. This study sought to develop an index for agricultural digitalization by applying composite confirmatory analysis (CCA). Another aim was to determine the factors that affect the development of digitalization in PLAS farms. Data on the indicators of the three dimensions of digitalization were collected from 300 Proactive Land Acquisition Strategy (PLAS) farms in South Africa using semi-structured questionnaires. Confirmatory composite analysis (CCA) was employed to reduce the items into three digitalization dimensions and ultimately to a digitalization index. Standardized digitalization index scores were extracted and fitted to a linear regression model to determine the factors affecting digitalization development. The results revealed that the model shows practical validity and can be used to measure digitalization development as measures of fit (geodesic distance, standardized root mean square residual, and squared Euclidean distance) were all below their respective 95%quantiles of bootstrap discrepancies (HI95 values). Therefore, digitalization is an emergent variable that can be measured using CCA. The average level of digitalization in PLAS farms was 0.2 and varied significantly across provinces. The factors that significantly influence digitalization development in PLAS land reform farms were age, gender, farm type, network type, and cellular data type. This should enable researchers and policymakers to understand the level of digitalization and patterns of development, as well as correctly attribute digitalization development to the contributing factors.

Keywords: agriculture, digitalization, confirmatory composite model, land reform, proactive land acquisition strategy, South Africa

Procedia PDF Downloads 68

Authors: Ritesh Donkal, Kr Meena, Sapna Meena

Abstract:

Background: Short stature in children can be caused by a variety of endocrinal disorders. Identifying the etiological factors behind growth failure is essential for targeted intervention and improved outcomes. This study aimed to examine the etiological profile of endocrinal disorders in children with short stature. Methods: An observational cross-sectional study was conducted over 18 months at the Department of Pediatrics, VMMC and Safdarjung Hospital, New Delhi. A total of 143 children aged 3 to 14 years with short stature were included. Clinical evaluations, laboratory tests, and MRI scans were performed to identify the underlying endocrinal causes. Results: Hypothyroidism was the most prevalent endocrinal disorder, affecting 53.1% of participants, followed by growth hormone deficiency (32.2%) and Type 1 diabetes mellitus (18.2%). Socioeconomic status analysis revealed that 21.7% of children came from lower socioeconomic backgrounds, suggesting a potential link between socioeconomic factors and growth disorders. MRI findings in children diagnosed with growth hormone deficiency revealed that 29.4% had normal results, while 52.9% exhibited pituitary hypoplasia, and 11.8% had craniopharyngioma. A small percentage (5.9%) exhibited empty sella turcica, often associated with hormonal deficiencies. Stimulation testing showed significant changes in growth hormone levels, highlighting the need for routine screening in children with short stature. Conclusions: This study underscores the multifactorial etiology of short stature, with hypothyroidism and growth hormone deficiency being the most common causes. The findings emphasize the importance of early diagnosis, particularly through hormonal screening and imaging, to guide effective treatment. Socioeconomic factors also play a role in the development of growth disorders. Future research should focus on exploring the genetic and environmental factors contributing to these conditions.

Keywords: pediatrics, endocrine, short stature, etiological profile

Procedia PDF Downloads 12

Authors: Abhijit Trailokya, Kamlesh Patel

Abstract:

Background: Hypertension is a common disease seen in clinical practice and is associated with high morbidity and mortality. Many patients require combination therapy for the management of hypertension. Objective: To evaluate co-morbidities, risk factors and management practices of hypertension in Indian population. Material and methods: A total of 1596 hypertensive adult patients received anti-hypertensive medications were studied in a cross-sectional, multi-centric, non-interventional, observational registry. Statistical analysis: Categories or nominal data was expressed as numbers with percentages. Continuous variables were analyzed by descriptive statistics using mean, SD, and range Chi square test was used for in between group comparison. Results: The study included 73.50% males and 26.50% females. Overweight (50.50%) and obesity (30.01%) was common in the hypertensive patients (n=903). A total of 54.76% patients had history of smoking. Alcohol use (33.08%), sedentary life style (32.96%) and history of tobacco chewing (17.92%) were the other lifestyle habits of hypertensive patients. Diabetes (36.03%) and dyslipidemia (39.79%) history was common in these patients. Family history of hypertension and diabetes was seen in 82.21% and 45.99% patients respectively. Most (89.16%) patients were treated with combination of antihypertensive agents. ARBs were the by far most commonly used agents (91.98%) followed by calcium channel blockers (68.23%) and diuretics (60.21%). ARB was the most (80.35%) preferred agent as monotherapy. ARB was also the most common agent as a component of dual therapy, four drug and five drug combinations. Conclusion: Most of the hypertensive patients need combination treatment with antihypertensive agents. ARBs are the most preferred agents as monotherapy for the management of hypertension. ARBs are also very commonly used as a component of combination therapy during hypertension management.

Keywords: antihypertensive, hypertension, management, ARB

Procedia PDF Downloads 526

Authors: Michelangelo Liban, Debbie Liquete

Abstract:

A 70-year-old right-handed Filipina was seen by the Neurology service due to a new onset headache, bi-occipital in location, dull squeezing in character with a pain score of 8/10 with associated nausea and one episode of non-projectile, which provided no relief. Due to the alarming features of the headache despite the absence of risk factors and an essentially normal neurologic examination, a cranial CTA+CTV was done, which revealed a small left frontal and small right pontine hyper density with minimal perilesional edema. Findings also revealed filling defects in the straight and right transverse sinus and a consideration of hypoplastic left transverse sinus with no definite evidence of aneurysm nor A-V malformation. She had normal levels of D-Dimer, Protein C, ANA and Anti-DS DNA but had a low Protein S of 56% (N.V is 70-120%). Antithrombin, homocysteine and Factor V Leiden were not done due to unavailability of the tests. She was then treated as a case of Cerebral Venous Thrombosis with multiple hemorrhage from venous infraction and was given anticoagulants which provided relief of the headache. She did not manifest with any further cortical, bulbar or sensorimotor deficits hence was discharged improved after 15 hospital days. To our knowledge, there are no case reports of patients with CVT from Protein S deficiency and venous anomaly that presented with multiple hemorrhage from venous infarction, more so affecting the brainstem. In this paper, a rare location of CVT in a newly diagnosed Protein S deficient patient is presented together with an uneventful course and favorable outcome.

Keywords: protein S deficiency, cerebral venous thrombosis, pontine hemorrhage from venous infarction, elderly

Procedia PDF Downloads 80

Authors: Susmita Ghosh, Bhaskar Bhowmick

Abstract:

Market is an important factor for start-ups to look into during decision-making in product development and related areas. Emerging country markets are more uncertain in terms of information availability and institutional supports. The literature review of market uncertainty reveals the need for identifying factors representing the market uncertainty. This paper identifies factors for market uncertainty using Exploratory Factor Analysis (EFA) and confirms the number of factor retention using an alternative factor retention criterion, ‘Parallel Analysis’. 500 entrepreneurs, engaged in start-ups from all over India participated in the study. This paper concludes with the factor structure of ‘market uncertainty’ having dimensions of uncertainty in industry orientation, uncertainty in customer orientation and uncertainty in marketing orientation.

Keywords: uncertainty, market, orientation, competitor, demand

Procedia PDF Downloads 595

Authors: Bharti Singh, Shri K. Singh

Abstract:

Child malnutrition is a multifaceted issue that transcends geographical boundaries. Malnutrition not only stunts physical growth but also leads to a spectrum of morbidities and child mortality. It is one of the leading causes of death (~50 %) among children under age five. Despite economic progress and advancements in healthcare, child malnutrition remains a formidable challenge for India. The objective is to investigate the impact of women's empowerment on child nutrition outcomes in India from 2006 to 2021. A composite index of women's empowerment was constructed using Confirmatory Factor Analysis (CFA), a rigorous technique that validates the measurement model by assessing how well-observed variables represent latent constructs. This approach ensures the reliability and validity of the empowerment index. Secondly, kernel density plots were utilised to visualise the distribution of key nutritional indicators, such as stunting, wasting, and overweight. These plots offer insights into the shape and spread of data distributions, aiding in understanding the prevalence and severity of malnutrition. Thirdly, linear polynomial graphs were employed to analyse how nutritional parameters evolved with the child's age. This technique enables the visualisation of trends and patterns over time, allowing for a deeper understanding of nutritional dynamics during different stages of childhood. Lastly, multilevel analysis was conducted to identify vulnerable levels, including State-level, PSU-level, and household-level factors impacting undernutrition. This approach accounts for hierarchical data structures and allows for the examination of factors at multiple levels, providing a comprehensive understanding of the determinants of child malnutrition. Overall, the utilisation of these statistical methodologies enhances the transparency and replicability of the study by providing clear and robust analytical frameworks for data analysis and interpretation. Our study reveals that NFHS-4 and NFHS-5 exhibit an equal density of severely stunted cases. NFHS-5 indicates a limited decline in wasting among children aged five, while the density of severely wasted children remains consistent across NFHS-3, 4, and 5. In 2019-21, women with higher empowerment had a lower risk of their children being undernourished (Regression coefficient= -0.10***; Confidence Interval [-0.18, -0.04]). Gender dynamics also play a significant role, with male children exhibiting a higher susceptibility to undernourishment. Multilevel analysis suggests household-level vulnerability (intra-class correlation=0.21), highlighting the need to address child undernutrition at the household level.

Keywords: child nutrition, India, NFHS, women’s empowerment

Procedia PDF Downloads 39

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

Abstract:

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 207