Search results for: clinical assessment
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 8807

Search results for: clinical assessment

2297 Fam111b Gene Dysregulation Contributes to the Malignancy in Fibrosarcoma, Poor Clinical Outcomes in Poiktmp and a Low-cost Method for Its Mutation Screening

Authors: Cenza Rhoda, Falone Sunda, Elvis Kidzeru, Nonhlanhla P. Khumalo, Afolake Arowolo

Abstract:

Introduction: The human FAM111B gene mutations are associated with POIKTMP, a rare multi-organ fibrosing disease. Recent studies also reported the overexpression of FAM111B in specific cancers. However, the role of FAM111B in these pathologies, particularly fibrosarcoma, remains unknown. Materials and Methods: FAM111B RNA expression in some cancer cell lines was assessed in silico and validated in vitro in these cell lines and skin fibroblasts derived from the South African family member affected by POIKTMP with the heterozygous FAM111B gene mutation: NM_198947.4: c.1861T>G (p. Tyr621Asp or Y621D) by qPCR and western blot. The cellular function of FAM111B was also studied in HT1080 using various cell-based functional assays and a simple and cost-effective PCR-RFLP method for genotyping/screening FAM111B gene mutations described. Results: Expression studies showed upregulated FAM111B mRNA and protein in the cancer cells. High FAM111B expression with robust nuclear localization occurred in HT1080. Additionally, expression data and cell-based assays indicated that FAM111B led to the upregulation of cell migration and decreased cell apoptosis and cell proliferation modulation. FAM111B Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein expression were markedly downregulated (p ≤ 0.05) in the patient's skin-derived fibroblasts. Lastly, the PCR-RFLP method successfully genotyped FAM111B Y621D gene mutation. Discussion: FAM111B is a cancer-associated nuclear protein: Its modulation by mutations may enhance cell migration and proliferation and decrease apoptosis, as seen in cancers and POIKTMP/fibrosis, thus representing a viable therapeutic target in these disorders. Furthermore, the PCR-RFLP method could prove a valuable tool for FAM111B mutation validation or screening in resource-constrained laboratories.

Keywords: FAM111B, POIKTMP, cancer, fibrosis, PCR-RFLP

Procedia PDF Downloads 115
2296 Overcoming Open Innovation Challenges with Technology Intelligence: Case of Medium-Sized Enterprises

Authors: Akhatjon Nasullaev, Raffaella Manzini, Vincent Frigant

Abstract:

The prior research largely discussed open innovation practices both in large and small and medium-sized enterprises (SMEs). Open Innovation compels firms to observe and analyze the external environment in order to tap new opportunities for inbound and/or outbound flows of knowledge, ideas, work in progress innovations. As SMEs are different from their larger counterparts, they face several limitations in utilizing open innovation activities, such as resource scarcity, unstructured innovation processes and underdeveloped innovation capabilities. Technology intelligence – the process of systematic acquisition, assessment and communication of information about technological trends, opportunities and threats can mitigate this limitation by enabling SMEs to identify technological and market opportunities in timely manner and undertake sound decisions, as well as to realize a ‘first mover advantage’. Several studies highlighted firm-level barriers to successful implementation of open innovation practices in SMEs, namely challenges in partner selection, intellectual property rights and trust, absorptive capacity. This paper aims to investigate the question how technology intelligence can be useful for SMEs to overcome the barriers to effective open innovation. For this, we conduct a case study in four Estonian life-sciences SMEs. Our findings revealed that technology intelligence can support SMEs not only in inbound open innovation (taking into account inclination of most firms toward technology exploration aspects of open innovation) but also outbound open innovation. Furthermore, the results of this study state that, although SMEs conduct technology intelligence in unsystematic and uncoordinated manner, it helped them to increase their innovative performance.

Keywords: technology intelligence, open innovation, SMEs, life sciences

Procedia PDF Downloads 163
2295 Roof and Road Network Detection through Object Oriented SVM Approach Using Low Density LiDAR and Optical Imagery in Misamis Oriental, Philippines

Authors: Jigg L. Pelayo, Ricardo G. Villar, Einstine M. Opiso

Abstract:

The advances of aerial laser scanning in the Philippines has open-up entire fields of research in remote sensing and machine vision aspire to provide accurate timely information for the government and the public. Rapid mapping of polygonal roads and roof boundaries is one of its utilization offering application to disaster risk reduction, mitigation and development. The study uses low density LiDAR data and high resolution aerial imagery through object-oriented approach considering the theoretical concept of data analysis subjected to machine learning algorithm in minimizing the constraints of feature extraction. Since separating one class from another in distinct regions of a multi-dimensional feature-space, non-trivial computing for fitting distribution were implemented to formulate the learned ideal hyperplane. Generating customized hybrid feature which were then used in improving the classifier findings. Supplemental algorithms for filtering and reshaping object features are develop in the rule set for enhancing the final product. Several advantages in terms of simplicity, applicability, and process transferability is noticeable in the methodology. The algorithm was tested in the different random locations of Misamis Oriental province in the Philippines demonstrating robust performance in the overall accuracy with greater than 89% and potential to semi-automation. The extracted results will become a vital requirement for decision makers, urban planners and even the commercial sector in various assessment processes.

Keywords: feature extraction, machine learning, OBIA, remote sensing

Procedia PDF Downloads 358
2294 Incidence and Risk Factors of Central Venous Associated Infections in a Tunisian Medical Intensive Care Unit

Authors: Ammar Asma, Bouafia Nabiha, Ghammam Rim, Ezzi Olfa, Ben Cheikh Asma, Mahjoub Mohamed, Helali Radhia, Sma Nesrine, Chouchène Imed, Boussarsar Hamadi, Njah Mansour

Abstract:

Background: Central venous catheter associated infections (CVC-AI) are among the serious hospital-acquired infections. The aims of this study are to determine the incidence of CVC-AI, and their risk factors among patients followed in a Tunisian medical intensive care unit (ICU). Materials / Methods: A prospective cohort study conducted between September 15th, 2015 and November 15th, 2016 in an 8-bed medical ICU including all patients admitted for more than 48h. CVC-AI were defined according to CDC of ATLANTA criteria. The enrollment was based on clinical and laboratory diagnosis of CVC-AI. For all subjects, age, sex, underlying diseases, SAPS II score, ICU length of stay, exposure to CVC (number of CVC placed, site of insertion and duration catheterization) were recorded. Risk factors were analyzed by conditional stepwise logistic regression. The p-value of < 0.05 was considered significant. Results: Among 192 eligible patients, 144 patients (75%) had a central venous catheter. Twenty-eight patients (19.4%) had developed CVC-AI with density rate incidence 20.02/1000 CVC-days. Among these infections, 60.7% (n=17) were systemic CVC-AI (with negative blood culture), and 35.7% (n=10) were bloodstream CVC-AI. The mean SAPS II of patients with CVC-AI was 32.76 14.48; their mean Charlson index was 1.77 1.55, their mean duration of catheterization was 15.46 10.81 days and the mean duration of one central line was 5.8+/-3.72 days. Gram-negative bacteria was determined in 53.5 % of CVC-AI (n= 15) dominated by multi-drug resistant Acinetobacter baumani (n=7). Staphylococci were isolated in 3 CVC-AI. Fourteen (50%) patients with CVC-AI died. Univariate analysis identified men (p=0.034), the referral from another hospital department (p=0.03), tobacco (p=0.006), duration of sedation (p=0.003) and the duration of catheterization (p=0), as possible risk factors of CVC-AI. Multivariate analysis showed that independent factors of CVC-AI were, male sex; OR= 5.73, IC 95% [2; 16.46], p=0.001, Ramsay score; OR= 1.57, IC 95% [1.036; 2.38], p=0.033, and duration of catheterization; OR=1.093, IC 95% [1.035; 1.15], p=0.001. Conclusion: In a monocenter cohort, CVC-AI had a high density and is associated with poor outcome. Identifying the risk factors is necessary to find solutions for this major health problem.

Keywords: central venous catheter associated infection, intensive care unit, prospective cohort studies, risk factors

Procedia PDF Downloads 360
2293 Evaluation of Efficiency of Naturally Available Disinfectants and Filter Media in Conventional Gravity Filters

Authors: Abhinav Mane, Kedar Karvande, Shubham Patel, Abhayraj Lodha

Abstract:

Gravity filters are one of the most commonly used, economically viable and moderately efficient water purification systems. Their efficiency is mainly based on the type of filter media installed and its location within the filter mass. Several researchers provide valuable input in decision of the type of filter media. However, the choice is mainly restricted to the chemical combinations of different substances. This makes it very much dependent on the factory made filter media, and no cheap alternatives could be found and used. This paper presents the use of disinfectants and filter medias either available naturally or could be prepared using natural resources in conventional mechanism of gravity filter. A small scale laboratory investigation was made with variation in filter media thickness and its location from the top surface of the filter. A rigid steel frame based custom fabricated test setup was used to facilitate placement of filter media at different height within the filter mass. Finely grinded sun dried Neem (Azadirachta indica) extracts and porous burnt clay pads were used as two distinct filter media and placed in isolation as well as in combination with each other. Ground water available in Marathwada region of Maharashtra, India which mainly consists of harmful materials like Arsenic, Chlorides, Iron, Magnesium and Manganese, etc. was treated in the filters fabricated in the present study. The evaluation was made mainly in terms of the input/output water quality assessment through laboratory tests. The present paper should give a cheap and eco-friendly solution to prepare gravity filter at the merit of household skills and availability.

Keywords: fliter media, gravity filters, natural disinfectants, porous clay pads

Procedia PDF Downloads 251
2292 Assessment of Low Income Housing Delivery, Accessibility and Affordability Problem in Nigeria

Authors: Asimiyu Mohammed Jinadu

Abstract:

Housing is a basic necessity of life. Housing plays a central role in the life of living organisms as it provides the basic platform for the life support systems in human settlements. It is considered a social service and a basic right. Despite the importance of housing, Nigeria as a nation is faced with the problem of quantitative and qualitative shortfall in the number of housing units required to accommodate the citizens. This study examined the accessibility and affordability problems of low-income housing in Nigeria. It relied on secondary data obtained for the records of government ministries and agencies. Descriptive statistics were used in the analysis, and the information was presented in simple tables and charts. The findings show that over the years the government has provided serviced plots of land, owner occupier houses and mortgage loans for the people. As at 2016, the Federal Housing Authority (FHA) has completed a total of 23,038 housing units while another 14, 488 units were on-going under the Public Private Partnership scheme across the country. The study revealed that a total of 910, 671 housing units were proposed by the Government under the various low-income housing programmes between 1960 and 2017, but only 156, 336 units were delivered within the period, representing 17.17% success rate. Amongst others, the low-income group faced the problems of low access to and unaffordability of the few low-income housing delivered in Nigeria. The study recommended that all abandoned housing projects should be reviewed, rationalized, completed and made available to the targeted low-income people. Investment in micro housing finance, design and implementation of pro-poor housing programme and massive investment in innovative slum upgrading programmes by both the government and private sector are also recommended to ameliorate the housing problems of the low-income group in Nigeria.

Keywords: housing, low income group, problem, programme

Procedia PDF Downloads 251
2291 Genetic Data of Deceased People: Solving the Gordian Knot

Authors: Inigo de Miguel Beriain

Abstract:

Genetic data of deceased persons are of great interest for both biomedical research and clinical use. This is due to several reasons. On the one hand, many of our diseases have a genetic component; on the other hand, we share genes with a good part of our biological family. Therefore, it would be possible to improve our response considerably to these pathologies if we could use these data. Unfortunately, at the present moment, the status of data on the deceased is far from being satisfactorily resolved by the EU data protection regulation. Indeed, the General Data Protection Regulation has explicitly excluded these data from the category of personal data. This decision has given rise to a fragmented legal framework on this issue. Consequently, each EU member state offers very different solutions. For instance, Denmark considers the data as personal data of the deceased person for a set period of time while some others, such as Spain, do not consider this data as such, but have introduced some specifically focused regulations on this type of data and their access by relatives. This is an extremely dysfunctional scenario from multiple angles, not least of which is scientific cooperation at the EU level. This contribution attempts to outline a solution to this dilemma through an alternative proposal. Its main hypothesis is that, in reality, health data are, in a sense, a rara avis within data in general because they do not refer to one person but to several. Hence, it is possible to think that all of them can be considered data subjects (although not all of them can exercise the corresponding rights in the same way). When the person from whom the data were obtained dies, the data remain as personal data of his or her biological relatives. Hence, the general regime provided for in the GDPR may apply to them. As these are personal data, we could go back to thinking in terms of a general prohibition of data processing, with the exceptions provided for in Article 9.2 and on the legal bases included in Article 6. This may be complicated in practice, given that, since we are dealing with data that refer to several data subjects, it may be complex to refer to some of these bases, such as consent. Furthermore, there are theoretical arguments that may oppose this hypothesis. In this contribution, it is shown, however, that none of these objections is of sufficient substance to delegitimize the argument exposed. Therefore, the conclusion of this contribution is that we can indeed build a general framework on the processing of personal data of deceased persons in the context of the GDPR. This would constitute a considerable improvement over the current regulatory framework, although it is true that some clarifications will be necessary for its practical application.

Keywords: collective data conceptual issues, data from deceased people, genetic data protection issues, GDPR and deceased people

Procedia PDF Downloads 152
2290 A Use Case-Oriented Performance Measurement Framework for AI and Big Data Solutions in the Banking Sector

Authors: Yassine Bouzouita, Oumaima Belghith, Cyrine Zitoun, Charles Bonneau

Abstract:

Performance measurement framework (PMF) is an essential tool in any organization to assess the performance of its processes. It guides businesses to stay on track with their objectives and benchmark themselves from the market. With the growing trend of the digital transformation of business processes, led by innovations in artificial intelligence (AI) & Big Data applications, developing a mature system capable of capturing the impact of digital solutions across different industries became a necessity. Based on the conducted research, no such system has been developed in academia nor the industry. In this context, this paper covers a variety of methodologies on performance measurement, overviews the major AI and big data applications in the banking sector, and covers an exhaustive list of relevant metrics. Consequently, this paper is of interest to both researchers and practitioners. From an academic perspective, it offers a comparative analysis of the reviewed performance measurement frameworks. From an industry perspective, it offers exhaustive research, from market leaders, of the major applications of AI and Big Data technologies, across the different departments of an organization. Moreover, it suggests a standardized classification model with a well-defined structure of intelligent digital solutions. The aforementioned classification is mapped to a centralized library that contains an indexed collection of potential metrics for each application. This library is arranged in a manner that facilitates the rapid search and retrieval of relevant metrics. This proposed framework is meant to guide professionals in identifying the most appropriate AI and big data applications that should be adopted. Furthermore, it will help them meet their business objectives through understanding the potential impact of such solutions on the entire organization.

Keywords: AI and Big Data applications, impact assessment, metrics, performance measurement

Procedia PDF Downloads 194
2289 Role of P53 Codon 72 Polymorphism and miR-146a Rs2910164 Polymorphism in Breast Cancer

Authors: Marjan Moradi fard, Hossein Rassi, Masoud Houshmand

Abstract:

Aim: Breast cancer is one of the most common cancers affecting the morbidity and mortality of Iranian women. This disease is a result of collective alterations of oncogenes and tumor suppressor genes. Studies have produced conflicting results concerning the role of p53 codon 72 polymorphism (G>C) and miR-146a rs2910164 polymorphism (G>C) on the risk of several cancers; therefore, a research was performed to estimate the association between the p53 codon 72 polymorphism and miR-146a rs2910164 polymorphism in breast cancer. Methods and Materials: A total of 45 archival breast cancer samples from Khatam hospital and 40 healthy samples were collected. Verification of each cancer reported in a relative was sought through the pathology reports of the hospital records. Then, DNA extracted from all samples by standard methods and p53 codon 72 polymorphism genotypes and miR-146a rs2910164 polymorphism genotypes were analyzed using multiplex PCR. The tubules, mitotic activity, necrosis, polymorphism and grade of breast cancer were staged by Nottingham histological grading and immunohistochemical staining of the sections from the paraffin wax embedded tissues for the expression of ER, PR and p53 was carried out using a standard method. Finally, data analysis was performed using the 7 version of the Epi Info(TM) 2012 software and test chi-square(x2) for trend. Results: Successful DNA extraction was assessed by PCR amplification of b-actin gene (99 bp). According to the results, p53 GG genotype and miR-146a rs2910164 CC genotype was significantly associated with increased risk of breast cancer in the study population. In this study, we established that tumors of p53 GG genotype and miR-146a rs2910164 CC genotype exhibited higher mitotic activity, higher polymorphism, lower necrosis, lower tubules, higher ER- and PR-negatives and lower TP53-positives than the other genotypes. Conclusion: The present study provided preliminary evidence that a p53 GG genotype may effect breast cancer risk in the study population, interacting synergistically with miR-146a rs2910164 CC genotype. Our results demonstrate that the testing of p53 codon 72 polymorphism genotypes and miR-146a rs2910164 polymorphism genotypes in combination with clinical parameters can serve as major risk factors in the early identification of breast cancers.

Keywords: breast cancer, miR-146a rs2910164 polymorphism, p53 codon 72 polymorphism, tumors, pathology reports

Procedia PDF Downloads 368
2288 Assessment of Microorganisms in Irrigation Water Collected from Various Vegetable Growing Areas of SWAT Valley, Khyber Pakhtunkhwa

Authors: Islam Zeb

Abstract:

Water of poor quality has a potential of probable contamination and a way to spread pollutant in the field and surrounding environment. A number of comprehensive reviews articles have been published which highlight irrigation water as a source of pathogenic microorganisms and heavy metals toxicity that leads to chronic diseases in human. Here a study was plan to determine the microbial status of irrigation water collected from various location of district Swat in various months. The analyses were carried out at Environmental Horticulture Laboratory, Department of Horticulture, The University of Agriculture Peshawar, during the year 2018 – 19. The experiment was laid out in Randomized Complete Block Design (RCBD) with two factors and three replicates. Factor A consist of different locations, and factor B represent various months. The results of microbial status for various locations in irrigation water showed the highest value for Total Bacterial Count, Enterobacteriacea, E. coli, Salmonella, and Listeria (9.05, 8.54, 6.01, 5.84, and 5.03 log cfu L-1 respectively) for samples collected from mingora location, whereas the lowest values for Total Bacterial Count, Enterobacteriacea, E. coli, Salmonella and Listeria (6.70, 6.38, 4.47, 4.42 and 3.77 log cfu L-1 respectively) were observed for matta location. Data for various months showed maximum Total Bacterial Count, Enterobacteriacea, E. coli, Salmonella, and Listeria (12.01, 11.70, 8.46, 8.41, and 6.88 log cfu L-1, respectively) were noted for the irrigation water samples collected in May/June whereas the lowest range for Total Bacterial Count, Enterobacteriacea, E. coli, Salmonella and Listeria (4.41, 4.08, 2.61, 2.55 and 3.39 log cfu L-1 respectively) were observed in Jan/Feb. A significant interaction was found for all the studied parameters it was concluded that maximum bacterial groups were recorded in the months of May/June from Mingora location, it might be due to favorable weather condition.

Keywords: contamination, irrigation water, microbes, SWAT, various months

Procedia PDF Downloads 62
2287 The Use of Mobile Phone as Enhancement to Mark Multiple Choice Objectives English Grammar and Literature Examination: An Exploratory Case Study of Preliminary National Diploma Students, Abdu Gusau Polytechnic, Talata Mafara, Zamfara State, Nigeria

Authors: T. Abdulkadir

Abstract:

Most often, marking and assessment of multiple choice kinds of examinations have been opined by many as a cumbersome and herculean task to accomplished manually in Nigeria. Usually this may be in obvious nexus to the fact that mass numbers of candidates were known to take the same examination simultaneously. Eventually, marking such a mammoth number of booklets dared and dread even the fastest paid examiners who often undertake the job with the resulting consequences of stress and boredom. This paper explores the evolution, as well as the set aim to envision and transcend marking the Multiple Choice Objectives- type examination into a thing of creative recreation, or perhaps a more relaxing activity via the use of the mobile phone. A more “pragmatic” dimension method was employed to achieve this work, rather than the formal “in-depth research” based approach due to the “novelty” of the mobile-smartphone e-Marking Scheme discovery. Moreover, being an evolutionary scheme, no recent academic work shares a direct same topic concept with the ‘use of cell phone as an e-marking technique’ was found online; thus, the dearth of even miscellaneous citations in this work. Additional future advancements are what steered the anticipatory motive of this paper which laid the fundamental proposition. However, the paper introduces for the first time the concept of mobile-smart phone e-marking, the steps to achieve it, as well as the merits and demerits of the technique all spelt out in the subsequent pages.

Keywords: cell phone, e-marking scheme (eMS), mobile phone, mobile-smart phone, multiple choice objectives (MCO), smartphone

Procedia PDF Downloads 250
2286 Combined Effect of Gender Differences and Fatiguing Task on Unipedal Postural Balance and Functional Mobility in Adults with Multiple Sclerosis

Authors: Sonda Jallouli, Omar Hammouda, Imen Ben Dhia, Salma Sakka, Chokri Mhiri, Mohamed Habib Elleuch, Abedlmoneem Yahia, Sameh Ghroubi

Abstract:

Multiple sclerosis (MS) is characterized by gender differences with affecting women two to four times more than men, but the disease progression is faster and more severe in men. Fatigue represents one of the most frequent and disabling symptoms related to MS. Results of previous studies regarding gender differences in fatigue perception in MS persons are contradictory. Besides, fatigue has been shown to affect negatively postural balance and functional mobility in MS persons. However, no study has taken into account gender differences in the response of these physical parameters to a fatiguing protocol in MS persons. Given the reduction of autonomy due to the alteration of these parameters induced by fatigue and the importance of gender differences in postural balance training programs in fatigued men and women with MS, the aim of this study was to investigate the effect of gender difference on unipedal postural balance and functional mobility after performing a fatiguing task in MS adults. Methods: Eleven women (30.29 ± 7.99 years) and seven men (30.91 ± 8.19 years) with relapsing-remitting MS performed a fatiguing protocol: three sets of the 5×sit to stand test (5-STST), six-minute walk test (6MWT) followed by three sets of the 5-STST. Unipedal balance, functional mobility, and fatigue perception were measured prefatigue (T0) and post fatigue (T3) using a clinical unipedal balance test, timed up and go test (TUGT), and analogic visual scale of fatigue (VASF), respectively. Heart rate (HR) and rate of perceived exertion (RPE) were recorded before, during and after the fatiguing task. Results: Compared to women, men showed an impairment of unipedal balance on the dominant leg (p<0.001, d=0.52) and mobility (p<0.001, d=3) via reducing unipedal stance time and increasing duration of TUGT execution, respectively. No gender differences were observed in 6MWT, 5-STST, HR, RPE and VASF scores. Conclusion: Fatiguing protocol negatively affected unipedal postural balance and mobility only in men. These gender differences were inconclusive but can be taken into account in postural balance rehabilitation programs for persons with MS.

Keywords: functional mobility, fatiguing exercises, multiple sclerosis, sex differences, unipedal balance

Procedia PDF Downloads 135
2285 Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

Abstract:

Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

Procedia PDF Downloads 410
2284 Exploring 1,2,4-Triazine-3(2H)-One Derivatives as Anticancer Agents for Breast Cancer: A QSAR, Molecular Docking, ADMET, and Molecular Dynamics

Authors: Said Belaaouad

Abstract:

This study aimed to explore the quantitative structure-activity relationship (QSAR) of 1,2,4-Triazine-3(2H)-one derivative as a potential anticancer agent against breast cancer. The electronic descriptors were obtained using the Density Functional Theory (DFT) method, and a multiple linear regression techniques was employed to construct the QSAR model. The model exhibited favorable statistical parameters, including R2=0.849, R2adj=0.656, MSE=0.056, R2test=0.710, and Q2cv=0.542, indicating its reliability. Among the descriptors analyzed, absolute electronegativity (χ), total energy (TE), number of hydrogen bond donors (NHD), water solubility (LogS), and shape coefficient (I) were identified as influential factors. Furthermore, leveraging the validated QSAR model, new derivatives of 1,2,4-Triazine-3(2H)-one were designed, and their activity and pharmacokinetic properties were estimated. Subsequently, molecular docking (MD) and molecular dynamics (MD) simulations were employed to assess the binding affinity of the designed molecules. The Tubulin colchicine binding site, which plays a crucial role in cancer treatment, was chosen as the target protein. Through the simulation trajectory spanning 100 ns, the binding affinity was calculated using the MMPBSA script. As a result, fourteen novel Tubulin-colchicine inhibitors with promising pharmacokinetic characteristics were identified. Overall, this study provides valuable insights into the QSAR of 1,2,4-Triazine-3(2H)-one derivative as potential anticancer agent, along with the design of new compounds and their assessment through molecular docking and dynamics simulations targeting the Tubulin-colchicine binding site.

Keywords: QSAR, molecular docking, ADMET, 1, 2, 4-triazin-3(2H)-ones, breast cancer, anticancer, molecular dynamic simulations, MMPBSA calculation

Procedia PDF Downloads 88
2283 The Role of Artificial Intelligence in Criminal Procedure

Authors: Herke Csongor

Abstract:

The artificial intelligence (AI) has been used in the United States of America in the decisionmaking process of the criminal justice system for decades. In the field of law, including criminal law, AI can provide serious assistance in decision-making in many places. The paper reviews four main areas where AI still plays a role in the criminal justice system and where it is expected to play an increasingly important role. The first area is the predictive policing: a number of algorithms are used to prevent the commission of crimes (by predicting potential crime locations or perpetrators). This may include the so-called linking hot-spot analysis, crime linking and the predictive coding. The second area is the Big Data analysis: huge amounts of data sets are already opaque to human activity and therefore unprocessable. Law is one of the largest producers of digital documents (because not only decisions, but nowadays the entire document material is available digitally), and this volume can only and exclusively be handled with the help of computer programs, which the development of AI systems can have an increasing impact on. The third area is the criminal statistical data analysis. The collection of statistical data using traditional methods required enormous human resources. The AI is a huge step forward in that it can analyze the database itself, based on the requested aspects, a collection according to any aspect can be available in a few seconds, and the AI itself can analyze the database and indicate if it finds an important connection either from the point of view of crime prevention or crime detection. Finally, the use of AI during decision-making in both investigative and judicial fields is analyzed in detail. While some are skeptical about the future role of AI in decision-making, many believe that the question is not whether AI will participate in decision-making, but only when and to what extent it will transform the current decision-making system.

Keywords: artificial intelligence, international criminal cooperation, planning and organizing of the investigation, risk assessment

Procedia PDF Downloads 34
2282 New Advanced Medical Software Technology Challenges and Evolution of the Regulatory Framework in Expert Software, Artificial Intelligence, and Machine Learning

Authors: Umamaheswari Shanmugam, Silvia Ronchi

Abstract:

Software, artificial intelligence, and machine learning can improve healthcare through innovative and advanced technologies that can use the large amount and variety of data generated during healthcare services every day; one of the significant advantages of these new technologies is the ability to get experience and knowledge from real-world use and to improve their performance continuously. Healthcare systems and institutions can significantly benefit because the use of advanced technologies improves the efficiency and efficacy of healthcare. Software-defined as a medical device, is stand-alone software that is intended to be used for patients for one or more of these specific medical intended uses: - diagnosis, prevention, monitoring, prediction, prognosis, treatment or alleviation of a disease, any other health conditions, replacing or modifying any part of a physiological or pathological process–manage the received information from in vitro specimens derived from the human samples (body) and without principal main action of its principal intended use by pharmacological, immunological or metabolic definition. Software qualified as medical devices must comply with the general safety and performance requirements applicable to medical devices. These requirements are necessary to ensure high performance and quality and protect patients' safety. The evolution and the continuous improvement of software used in healthcare must consider the increase in regulatory requirements, which are becoming more complex in each market. The gap between these advanced technologies and the new regulations is the biggest challenge for medical device manufacturers. Regulatory requirements can be considered a market barrier, as they can delay or obstacle the device's approval. Still, they are necessary to ensure performance, quality, and safety. At the same time, they can be a business opportunity if the manufacturer can define the appropriate regulatory strategy in advance. The abstract will provide an overview of the current regulatory framework, the evolution of the international requirements, and the standards applicable to medical device software in the potential market all over the world.

Keywords: artificial intelligence, machine learning, SaMD, regulatory, clinical evaluation, classification, international requirements, MDR, 510k, PMA, IMDRF, cyber security, health care systems

Procedia PDF Downloads 84
2281 Fast Aerodynamic Evaluation of Transport Aircraft in Early Phases

Authors: Xavier Bertrand, Alexandre Cayrel

Abstract:

The early phase of an aircraft development is instrumental as it really drives the potential of a new concept. Any weakness in the high-level design (wing planform, moveable surfaces layout etc.) will be extremely difficult and expensive to recover later in the aircraft development process. Aerodynamic evaluation in this very early development phase is driven by two main criteria: a short lead-time to allow quick iterations of the geometrical design, and a high quality of the calculations to get an accurate & reliable assessment of the current status. These two criteria are usually quite contradictory. Actually, short lead time of a couple of hours from end-to-end can be obtained with very simple tools (semi-empirical methods for instance) although their accuracy is limited, whereas higher quality calculations require heavier/more complex tools, which obviously need more complex inputs as well, and a significantly longer lead time. At this point, the choice has to be done between accuracy and lead-time. A brand new approach has been developed within Airbus, aiming at obtaining quickly high quality evaluations of the aerodynamic of an aircraft. This methodology is based on a joint use of Surrogate Modelling and a lifting line code. The Surrogate Modelling is used to get the wing sections characteristics (e.g. lift coefficient vs. angle of attack), whatever the airfoil geometry, the status of the moveable surfaces (aileron/spoilers) or the high-lift devices deployment. From these characteristics, the lifting line code is used to get the 3D effects on the wing whatever the flow conditions (low/high Mach numbers etc.). This methodology has been applied successfully to a concept of medium range aircraft.

Keywords: aerodynamics, lifting line, surrogate model, CFD

Procedia PDF Downloads 353
2280 Assessment on Rumen Microbial Diversity of Bali Cattle Using 16S rRNA Sequencing

Authors: Asmuddin Natsir, A. Mujnisa, Syahriani Syahrir, Marhamah Nadir, Nurul Purnomo

Abstract:

Bacteria, protozoa, Archaea, and fungi are the dominant microorganisms found in the rumen ecosystem that has an important role in converting feed ingredients into components that can be digested and utilized by the livestock host. This study was conducted to assess the diversity of rumen bacteria of bali cattle raised under traditional farming condition. Three adult bali cattle were used in this experiment. The rumen fluid samples from the three experimental animals were obtained by the Stomach Tube method before the morning feeding. The results of study indicated that the Illumina sequencing was successful in identifying 301,589 sequences, averaging 100,533 sequences, from three rumen fluid samples of three cattle. Furthermore, based on the SILVA taxonomic database, there were 19 kinds of phyla that had been successfully identified. Of the 19 phyla, there were only two dominant groups across the three samples, namely Bacteroidetes and Firmicutes, with an average percentage of 83.68% and 13.43%, respectively. Other groups such as Synergistetes, Spirochaetae, Planctomycetes can also be identified but in relatively small percentage. At the genus level, there were 157 sequences obtained from all three samples. Of this number, the most dominant group was Prevotella 1 with a percentage of 71.82% followed by 6.94% of Christencenellaceae R-7 group. Other groups such as Prevotellaceae UCG-001, Ruminococcaceae NK4A214 group, Sphaerochaeta, Ruminococcus 2, Rikenellaceae RC9 gut group, Quinella were also identified but with very low percentages. The sequencing results were able to detect the presence of 3.06% and 3.92% respectively for uncultured rumen bacterium and uncultured bacterium. In conclusion, the results of this experiment can provide an opportunity for a better understanding of the rumen bacterial diversity of the bali cattle raised under traditional farming condition and insight regarding the uncultured rumen bacterium and uncultured bacterium that need to be further explored.

Keywords: 16S rRNA sequencing, bali cattle, rumen microbial diversity, uncultured rumen bacterium

Procedia PDF Downloads 330
2279 Mutations in rpoB, katG and inhA Genes: The Association with Resistance to Rifampicin and Isoniazid in Egyptian Mycobacterium tuberculosis Clinical Isolates

Authors: Ayman K. El Essawy, Amal M. Hosny, Hala M. Abu Shady

Abstract:

The rapid detection of TB and drug resistance, both optimizes treatment and improves outcomes. In the current study, respiratory specimens were collected from 155 patients. Conventional susceptibility testing and MIC determination were performed for rifampicin (RIF) and isoniazid (INH). Genotype MTBDRplus assay, which is a molecular genetic assay based on the DNA-STRIP technology and specific gene sequencing with primers for rpoB, KatG, and mab-inhA genes were used to detect mutations associated with resistance to rifampicin and isoniazid. In comparison to other categories, most of rifampicin resistant (61.5%) and isoniazid resistant isolates (47.1%) were from patients relapsed in treatment. The genotypic profile (using Genotype MTBDRplus assay) of multi-drug resistant (MDR) isolates showed missing of katG wild type 1 (WT1) band and appearance of mutation band katG MUT2. For isoniazid mono-resistant isolates, 80% showed katG MUT1, 20% showed katG MUT1, and inhA MUT1, 20% showed only inhA MUT1. Accordingly, 100% of isoniazid resistant strains were detected by this assay. Out of 17 resistant strains, 16 had mutation bands for katG distinguished high resistance to isoniazid. The assay could clearly detect rifampicin resistance among 66.7% of MDR isolates that showed mutation band rpoB MUT3 while 33.3% of them were considered as unknown. One mono-resistant rifampicin isolate did not show rifampicin mutation bands by Genotype MTBDRplus assay, but it showed an unexpected mutation in Codon 531 of rpoB by DNA sequence analysis. Rifampicin resistance in this strain could be associated with a mutation in codon 531 of rpoB (based on molecular sequencing), and Genotype MTBDRplus assay could not detect the associated mutation. If the results of Genotype MTBDRplus assay and sequencing were combined, this strain shows hetero-resistance pattern. Gene sequencing of eight selected isolates, previously tested by Genotype MTBDRplus assay, could detect resistance mutations mainly in codon 315 (katG gene), position -15 in inhA promotes gene for isoniazid resistance and codon 531 (rpoB gene) for rifampicin resistance. Genotyping techniques allow distinguishing between recurrent cases of reinfection or reactivation and supports epidemiological studies.

Keywords: M. tuberculosis, rpoB, KatG, inhA, genotype MTBDRplus

Procedia PDF Downloads 163
2278 The Role of Parental Stress and Emotion Regulation in Responding to Children’s Expression of Negative Emotion

Authors: Lizel Bertie, Kim Johnston

Abstract:

Parental emotion regulation plays a central role in the socialisation of emotion, especially when teaching young children to cope with negative emotions. Despite evidence which shows non-supportive parental responses to children’s expression of negative emotions has implications for the social and emotional development of the child, few studies have investigated risk factors which impact parental emotion socialisation processes. The current study aimed to explore the extent to which parental stress contributes to both difficulties in parental emotion regulation and non-supportive parental responses to children’s expression of negative emotions. In addition, the study examined whether parental use of expressive suppression as an emotion regulation strategy facilitates the influence of parental stress on non-supportive responses by testing the relations in a mediation model. A sample of 140 Australian adults, who identified as parents with children aged 5 to 10 years, completed an online questionnaire. The measures explored recent symptoms of depression, anxiety, and stress, the use of expressive suppression as an emotion regulation strategy, and hypothetical parental responses to scenarios related to children’s expression of negative emotions. A mediated regression indicated that parents who reported higher levels of stress also reported higher levels of expressive suppression as an emotion regulation strategy and increased use of non-supportive responses in relation to young children’s expression of negative emotions. These findings suggest that parents who experience heightened symptoms of stress are more likely to both suppress their emotions in parent-child interaction and engage in non-supportive responses. Furthermore, higher use of expressive suppression strongly predicted the use of non-supportive responses, despite the presence of parental stress. Contrary to expectation, no indirect effect of stress on non-supportive responses was observed via expressive suppression. The findings from the study suggest that parental stress may become a more salient manifestation of psychological distress in a sub-clinical population of parents while contributing to impaired parental responses. As such, the study offers support for targeting overarching factors such as difficulties in parental emotion regulation and stress management, not only as an intervention for parental psychological distress, but also the detection and prevention of maladaptive parenting practices.

Keywords: emotion regulation, emotion socialisation, expressive suppression, non-supportive responses, parental stress

Procedia PDF Downloads 157
2277 Juridically Secure Trade Mechanisms for Alternative Dispute Resolution in Transnational Business Negotiations

Authors: Linda Frazer

Abstract:

A pluralistic methodology focuses on promoting an understanding that an alternative juridical framework for the regulation of transnational business negotiations (TBN) between private business parties is fundamentally required. This paper deals with the evolving assessment of the doctoral research of the author which demonstrated that due to insufficient juridical tools, negotiations are commonly misunderstood within the complexity of pluralistic and conflicting legal regimes. This inadequacy causes uncertainty in the enforcement of legal remedies, leaving business parties surprised. Consequently, parties cannot sufficiently anticipate when and how legal rights and obligations are created, often counting on oral or incomplete agreements which may lead to the misinterpretation of the extent of their legal rights and obligations. This uncertainty causes threats to business parties for fear of creating unintended legal obligations or, conversely, that law will not enforce intended agreements for failure to pass the tests of contractual validity. A need to find a manner to set default standards of communications and standards of conduct to monitor our evolving global trade would aid law to provide the security, predictability and foreseeability during alternative dispute resolution required by TBN parties. The conclusion of this study includes a proposal of new trade mechanisms, termed 'Bills of Negotiations' (BON) to enhance party autonomy and promote the ability for TBN parties to self-regulate within the boundaries of law. BON will be guided by a secure juridical institutionalized setting that caters to guiding communications during TBN and resolving disputes that arise along the negotiation processes on a fast track basis.

Keywords: alternative resolution disputes, ADR, good faith, good faith, juridical security, legal regulation, trade mechanisms, transnational business negotiations

Procedia PDF Downloads 140
2276 Unusual Presentation of Colorectal Cancer within Inguinal Hernia: A Systemic Review of Reported Cases

Authors: Sena Park

Abstract:

Background: The concurrent presentation with colorectal cancer in the inguinal hernia has been extremely rare. Due to its rarity, its presentation may lead to diagnostic and therapeutic dilemmas. We aim to review all the reported cases on colorectal cancer incarcerated in the inguinal hernia in the last 20 years, and discuss the operative approaches. Methods: We identified all case reports on colorectal cancer within inguinal hernia using PUBMED (2002-2022) and MEDLINE (2002-2022). The search strategy included the following keywords: colorectal cancer (title/abstract) AND inguinal hernia (title/abstract) OR incarceration (title/abstract). The search did not include letters, book chapters, systemic reviews, meta-analysis and editorials. Results: In the last 20 years, a total of 19 cases on colorectal cancer within the inguinal hernia were identified. The age of the patients ranged between 48 and 89. Majority of the patients were male (95%). Most commonly involved part of the large intestine was sigmoid colon (79%). Of all the cases, 79 percent of patients received open procedure and 21 percent had laparoscopic procedure. Discussion: Inguinal hernias are common with an incidence of approximately 1.7 percent. Colorectal cancer is the one of the leading causes of cancer-related mortality worldwide. However, their concurrent presentation has been extremely rare. In the last 20 years, 19 cases on concurrent presentation of colorectal cancer and inguinal hernia have been reported. Most patients who had open procedures had two incisions of groin incision and a midline laparotomy. There were 4 cases where the oncological resection was performed laparoscopically. The advantages of laparoscopic resection include reduced blood lost, reduced post-operative pain, reduced length of hospital stay and similar number of lymph nodes taken. From the review of the cases in the last 20 years, both open and laparoscopic approaches seemed to be safe and achieve adequate oncological resections. Conclusion: This is a brief overview of reported cases of colorectal cancer presenting with inguinal hernia concurrently. Due to its rarity, there are no current guidelines on operative approach in clinical practice. The experience in the last 20 years supports both open and laparoscopic approach.

Keywords: colorectal cancer, inguinal hernia, incarceration, operative approach

Procedia PDF Downloads 98
2275 Typification and Determination of Antibiotic Resistance Rates of Stenotrophomonas Maltophilia Strains Isolated from Intensive Care Unit Patients in a University Practice and Research Hospital

Authors: Recep Kesli, Gulsah Asik, Cengiz Demir, Onur Turkyilmaz

Abstract:

Objective: Stenotrophomonas maltophilia (S. maltophilia) has recently emerged as an important nosocomial microorganism. Treatment of invasive infections caused by this organism is problematic because this microorganism is usually resistant to a wide range of commonly used antimicrobials. We aimed to evaluate clinical isolates of S. maltophilia in respect to sampling sites and antimicrobial resistant. Method: During a two years period (October 2013 and September 2015) eighteen samples collected from the intensive care unit (ICU) patients hospitalized in Afyon Kocatepe University, ANS Practice and Research Hospital. Identification of the bacteria was determined by conventional methods and automated identification system-VITEK 2 (bio-Mérieux, Marcy l’toile, France). Antibacterial resistance tests were performed by Kirby Bauer disc (Oxoid, England) diffusion method following the recommendations of CLSI. Results: Eighteen S. maltophilia strains were identified as the causative agents of different infections. The main type of infection was lower respiratory tract infection (83,4 %); three patients (16,6 %) had bloodstream infection. While, none of the 18 S. maltophilia strains were found to be resistant against to trimethoprim sulfametaxasole (TMP-SXT) and levofloxacine, eight strains 66.6 % were found to be resistant against ceftazidim. Conclusion: The isolation of S.maltophilia starains resistant to TMP-SXT is vital. In order to prevent or minimize infections due to S. maltophilia such precuations should be utilized: Avoidance of inappropriate antibiotic use, prolonged implementation of foreign devices, reinforcement of hand hygiene practices and the application of appropriate infection control practices. Microbiology laboratories also may play important roles in controlling S. maltophilia infections by monitoring the prevalence, continuously, the provision of local antibiotic resistance paterns data and the performance of synergistic studies also may help to guide appropirate antimicrobial therapy choices.

Keywords: Stenotrophomonas maltophilia, trimethoprim-sulfamethoxazole, antimicrobial resistance, Stenotrophomonas spp.

Procedia PDF Downloads 246
2274 Study of Parking Demand for Offices – Case Study: Kolkata

Authors: Sanghamitra Roy

Abstract:

In recent times, India has experienced the phenomenal rise in the number of registered vehicles and vehicular trips, particularly intra-city trips in most of its urban areas. The increase in vehicle ownership and use have increased parking demand immensely and accommodating the same is now a matter of big concern. Most cities do not have adequate off-street parking facilities thus forcing people to park on the streets. This has resulted in decreased carrying capacity, decreased traffic speed, increased congestion, and increased environmental problems. While integrated multi-modal transportation system is the answer to such problems, parking issues will continue to exist. In Kolkata, only 6.4% land is devoted for roads. The consequences of this huge crunch in road spaces coupled with increased parking demand are severe particularly in the CBD and major commercial areas, making the role of off-street parking facilities in Kolkata even more critical. To meaningfully address parking issues, it is important to identify the factors that influence parking demand so that it can be assessed and comprehensive parking policies and plans for the city can be formulated. This paper aims at identifying the factors that contribute towards parking demand for offices in Kolkata and their degree of correlation with parking demand. The study is limited to home-to-work trips located within Kolkata Municipal Corporation (KMC) where parking related issues are most pronounced. The data for the study is collected through personal interviews, questionnaires and direct observations from offices across the wards of KMC. SPSS is used for classification of the data and analyses of the same. The findings of this study will help in re-assessment of the parking requirements specified in The Kolkata Municipal Corporation Building Rules as a step towards alleviating parking related issues in the city.

Keywords: building rules, office spaces, parking demand, urbanization

Procedia PDF Downloads 316
2273 Multidimensional Inequality and Deprivation Among Tribal Communities of Andhra Pradesh, India

Authors: Sanjay Sinha, Mohd Umair Khan

Abstract:

The level of income inequality in India has been worrisome as the World Inequality Report termed it as a “poor and unequal country, with an affluent elite”. As important as income is to understand inequality and deprivation, it is just one dimension. But the historical roots and current realities of inequality and deprivation in India lies in many of the non-income dimensions such as housing, nutrition, education, agency, sense of inclusion etc. which are often ignored, especially in solution-oriented research. The level of inequality and deprivation among the tribal is one such case. There is a corpus of literature establishing that the tribal communities in India are disadvantageous on various grounds. Given their rural geography, issues of access and quality of basic facilities such as education and healthcare are often unaddressed. COVID-19 has further exacerbated this challenge and climate change will make it even more worrying. With this background, a succinct measurement tool at the village level is necessary to design short to medium-term actions with reference to risk mitigation for tribal communities. This research paper examines the level of inequality and deprivation among the tribal communities in the rural areas of Andhra Pradesh state of India using a Multidimensional Inequality and Deprivation Index based on the Alkire-Foster methodology. The methodology is theoretically grounded in the capability approach propounded by Amartya Sen, emphasizing on achieving the “beings and doings” (functionings) an individual reason to value. In the index, the authors have five domains, including Livelihood, Food Security, Education, Health and Housing and these domains are divided into sixteen indicators. This assessment is followed by domain-wise short-term and long-term solutions.

Keywords: Andhra Pradesh, Alkire-Foster methodology, deprivation, inequality, multidimensionality, poverty, tribal

Procedia PDF Downloads 152
2272 Applying the Eye Tracking Technique for the Evaluation of Oculomotor System in Patients Survived after Cerebellar Tumors

Authors: Marina Shurupova, Victor Anisimov, Alexander Latanov

Abstract:

Background: The cerebellar lesions inevitably provoke oculomotor impairments in patients of different age. Symptoms of subtentorial tumors, particularly medulloblastomas, include static and dynamic coordination disorders (ataxia, asynergia, imbalance), hypo-muscle tonus, disruption of the cranial nerves, and within the oculomotor system - nystagmus (fine or gross). Subtentorial tumors can also affect the areas of cerebellum that control the oculomotor system. The noninvasive eye-tracking technology allows obtaining multiple oculomotor characteristics such as the number of fixations and their duration, amplitude, latency and velocity of saccades, trajectory and scan path of gaze during the process of the visual field navigation. Eye tracking could be very useful in clinical studies serving as convenient and effective tool for diagnostics. The aim: We studied the dynamics of oculomotor system functioning in patients undergoing remission from cerebellar tumors removal surgeries and following neurocognitive rehabilitation. Methods: 38 children (23 boys, 15 girls, 9-17 years old) that have recovered from the cerebellar tumor-removal surgeries, radiation therapy and chemotherapy and were undergoing course of neurocognitive rehabilitation participated in the study. Two tests were carried out to evaluate oculomotor performance - gaze stability test and counting test. The monocular eye movements were recorded with eye tracker ArringtonResearch (60 Hz). Two experimental sessions with both tests were conducted before and after rehabilitation courses. Results: Within the final session of both tests we observed remarkable improvement in oculomotor performance: 1) in the gaze stability test the spread of gaze positions significantly declined compared to the first session, and 2) the visual path in counting test significantly shortened both compared to the first session. Thus, neurocognitive rehabilitation improved the functioning of the oculomotor system in patients following the cerebellar tumor removal surgeries and subsequent therapy. Conclusions: The experimental data support the effectiveness of the utilization of the eye tracking technique as diagnostic tool in the field of neurooncology.

Keywords: eye tracking, rehabilitation, cerebellar tumors, oculomotor system

Procedia PDF Downloads 155
2271 Clinical and Molecular Characterization of Ichthyosis at King Abdulaziz Medical City, Riyadh KSA

Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

Abstract:

Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

Procedia PDF Downloads 192
2270 Solid Oral Leiomyoma: Clinical Case Report

Authors: Hurtado Zuñiga Yonel Marcos, Ferreira Joao Tiago

Abstract:

Introduction: Leiomyoma is a benign smooth muscle tumor. It is predominantly found between 40-49 years with a small prevalence in men. It is commonly found in the uterus, stomach, and in areas with smooth muscle. It presents as nodular, solitary, variable size, slow growing, and asymptomatic. It is classified into solid, vascular, and epithelioid leiomyoma. Vascular leiomyoma is the most common in the oral cavity. Oral leiomyomas are very rare because a smooth muscle in the oral cavity isn’t common. The most frequent areas of this pathologyaretongue, lip, buccal mucosa, and palate. It may be derived from the vascular walls or excretory ducts of the salivary glands. The diagnosis is made by histologically analysis. The treatment of choice is complete excision. Recurrence is rare. Objective: To report the case of a solid leiomyoma on the dorsum of the tongue and review the literature. Case description: A 78-year-old female patient presented a nodular (ovoid) elevation of 8x6mm, brownish color, with irregular limits and firm consistency located in the dorsal part of the tongue with slight symptoms. An excisional biopsy was performed, photographic record, and 3 weeks post-surgical follow-up. Result: The surgical specimen was submitted to an anatomopathological analysis, resulting in a benign nodule with defined limits compatible with solid leiomyoma of the tongue. Discussion: It is a pathology that presents in a solitary, nodular, well-defined, asymptomatic form; in the oral cavity, leiomyomas are found in the tongue, lip, buccal mucosa, and palate; as in our patient, it was nodular and, in the tongue, with a difference only in the symptomatology. The most prevalent age is 40-49 years and with small predominance in men, unlike our female patient with 78 years. Conclusions: Oral leiomyoma is a rare benign lesion that presents as a solitary nodular nodule; for its diagnosis, an anatomopathological analysis should be performed, and the treatment of choice is total excision with little recurrence.

Keywords: tongue, bening tumor, oral leiomyoma, leiomyoma

Procedia PDF Downloads 213
2269 The Construct of Assessment Instrument for Value, Attitude and Professionalism among Students Faculty of Sports Science and Coaching

Authors: Ahmad Hashim, Thariq Khan Azizuddin Khan, Zulakbal Abd Karim, Nohazira Abdul Karim

Abstract:

This research aims to obtain the validity and reliability of a survey instrument to evaluate the values, attitudes, and professionalism of sports science students, from the Faculty of Sports Science and Coaching, Universiti Pendidikan Sultan Idris (UPSI). It is a survey which is divided into two components namely first; moral, self-esteem, proactive, self-reliant and voluntary and second; ethics and professionalism. Development of the survey instrument is based on the Malaysian Education Development Plan, Higher Education Malaysia. There are 50 items prepared based on the five-point Likert scale which were tested at the pilot test level. It involved 212 research subjects selected based on random sampling. In addition, the research method applied is in the form of pre-experimental one group pre-test-post-test. Results of the analysis showed that overall field expert validity is r = .89, while the Cronbach alpha reliability correlation value of outdoor education instrument evaluation survey is r = .85. Next, this survey was tested again for construct validity using the factor analysis method for statistical analysis which would validate each item tested was supposed to be in the right component. From the analysis, results show that Bartlett's test is significant p < .05 and Kaiser-Meyer-Olkin index range is r = .87. The result showed 39 survey items are produced out of 50 items of the survey based on this factor analysis method. Research has shown that the survey instrument developed is valid and reliable to be used for the Faculty of Sports Sciences and Coaching, UPSI.

Keywords: values, attitudes, professionalism, ethics, professionalism

Procedia PDF Downloads 183
2268 Evaluation of Agricultural Drought Impact in the Crop Productivity of East Gojjam Zone

Authors: Walelgn Dilnesa Cherie, Fasikaw Atanaw Zimale, Bekalu W. Asres

Abstract:

The most catastrophic condition for agricultural production is a drought event, which is also one of the most hydro-metrological-related hazards. According to the combined susceptibility of plants to meteorological and hydrological conditions, agricultural drought is defined as the magnitude, severity, and duration of a drought that affects crop production. The accurate and timely assessment of agricultural drought can lead to the development of risk management strategies, appropriate proactive mechanisms for the protection of farmers, and the improvement of food security. The evaluation of agricultural drought in the East Gojjam zone was the primary subject of this study. To identify the agricultural drought, soil moisture anomalies, soil moisture deficit indices, and Normalized Difference Vegetation Indices (NDVI) are used. The measured welting point, field capacity, and soil moisture were utilized to validate the soil water deficit indices computed from the satellite data. The soil moisture and soil water deficit indices in 2013 in all woredas were minimum; this makes vegetation stress also in all woredas. The soil moisture content decreased in 2013/2014/2019, and 2021 in Dejen, 2014, and 2019 in Awobel Woreda. The max/ min values of NDVI in 2013 are minimum; it dominantly shows vegetation stress and an observed agricultural drought that happened in all woredas. The validation process of satellite and in-situ soil moisture and soil water deficit indices shows a good agreement with a value of R²=0.87 and 0.56, respectively. The study area becomes drought detected region, so government officials, policymakers, and environmentalists pay attention to the protection of drought effects.

Keywords: NDVI, agricultural drought, SWDI, soil moisture

Procedia PDF Downloads 82