Search results for: disease modeling
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 7569

Search results for: disease modeling

5559 Modeling Slow Crack Growth under Thermal and Chemical Effects for Fitness Predictions of High-Density Polyethylene Material

Authors: Luis Marquez, Ge Zhu, Vikas Srivastava

Abstract:

High-density polyethylene (HDPE) is one of the most commonly used thermoplastic polymer materials for water and gas pipelines. Slow crack growth failure is a well-known phenomenon in high-density polyethylene material and causes brittle failure well below the yield point with no obvious sign. The failure of transportation pipelines can cause catastrophic environmental and economic consequences. Using the non-destructive testing method to predict slow crack growth failure behavior is the primary preventative measurement employed by the pipeline industry but is often costly and time-consuming. Phenomenological slow crack growth models are useful to predict the slow crack growth behavior in the polymer material due to their ability to evaluate slow crack growth under different temperature and loading conditions. We developed a quantitative method to assess the slow crack growth behavior in the high-density polyethylene pipeline material under different thermal conditions based on existing physics-based phenomenological models. We are also working on developing an experimental protocol and quantitative model that can address slow crack growth behavior under different chemical exposure conditions to improve the safety, reliability, and resilience of HDPE-based pipeline infrastructure.

Keywords: mechanics of materials, physics-based modeling, civil engineering, fracture mechanics

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5558 Optimal Geothermal Borehole Design Guided By Dynamic Modeling

Authors: Hongshan Guo

Abstract:

Ground-source heat pumps provide stable and reliable heating and cooling when designed properly. The confounding effect of the borehole depth for a GSHP system, however, is rarely taken into account for any optimization: the determination of the borehole depth usually comes prior to the selection of corresponding system components and thereafter any optimization of the GSHP system. The depth of the borehole is important to any GSHP system because the shallower the borehole, the larger the fluctuation of temperature of the near-borehole soil temperature. This could lead to fluctuations of the coefficient of performance (COP) for the GSHP system in the long term when the heating/cooling demand is large. Yet the deeper the boreholes are drilled, the more the drilling cost and the operational expenses for the circulation. A controller that reads different building load profiles, optimizing for the smallest costs and temperature fluctuation at the borehole wall, eventually providing borehole depth as the output is developed. Due to the nature of the nonlinear dynamic nature of the GSHP system, it was found that between conventional optimal controller problem and model predictive control problem, the latter was found to be more feasible due to a possible history of both the trajectory during the iteration as well as the final output could be computed and compared against. Aside from a few scenarios of different weighting factors, the resulting system costs were verified with literature and reports and were found to be relatively accurate, while the temperature fluctuation at the borehole wall was also found to be within acceptable range. It was therefore determined that the MPC is adequate to optimize for the investment as well as the system performance for various outputs.

Keywords: geothermal borehole, MPC, dynamic modeling, simulation

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5557 Predicting Loss of Containment in Surface Pipeline using Computational Fluid Dynamics and Supervised Machine Learning Model to Improve Process Safety in Oil and Gas Operations

Authors: Muhammmad Riandhy Anindika Yudhy, Harry Patria, Ramadhani Santoso

Abstract:

Loss of containment is the primary hazard that process safety management is concerned within the oil and gas industry. Escalation to more serious consequences all begins with the loss of containment, starting with oil and gas release from leakage or spillage from primary containment resulting in pool fire, jet fire and even explosion when reacted with various ignition sources in the operations. Therefore, the heart of process safety management is avoiding loss of containment and mitigating its impact through the implementation of safeguards. The most effective safeguard for the case is an early detection system to alert Operations to take action prior to a potential case of loss of containment. The detection system value increases when applied to a long surface pipeline that is naturally difficult to monitor at all times and is exposed to multiple causes of loss of containment, from natural corrosion to illegal tapping. Based on prior researches and studies, detecting loss of containment accurately in the surface pipeline is difficult. The trade-off between cost-effectiveness and high accuracy has been the main issue when selecting the traditional detection method. The current best-performing method, Real-Time Transient Model (RTTM), requires analysis of closely positioned pressure, flow and temperature (PVT) points in the pipeline to be accurate. Having multiple adjacent PVT sensors along the pipeline is expensive, hence generally not a viable alternative from an economic standpoint.A conceptual approach to combine mathematical modeling using computational fluid dynamics and a supervised machine learning model has shown promising results to predict leakage in the pipeline. Mathematical modeling is used to generate simulation data where this data is used to train the leak detection and localization models. Mathematical models and simulation software have also been shown to provide comparable results with experimental data with very high levels of accuracy. While the supervised machine learning model requires a large training dataset for the development of accurate models, mathematical modeling has been shown to be able to generate the required datasets to justify the application of data analytics for the development of model-based leak detection systems for petroleum pipelines. This paper presents a review of key leak detection strategies for oil and gas pipelines, with a specific focus on crude oil applications, and presents the opportunities for the use of data analytics tools and mathematical modeling for the development of robust real-time leak detection and localization system for surface pipelines. A case study is also presented.

Keywords: pipeline, leakage, detection, AI

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5556 Artificial Intelligence Approach to Water Treatment Processes: Case Study of Daspoort Treatment Plant, South Africa

Authors: Olumuyiwa Ojo, Masengo Ilunga

Abstract:

Artificial neural network (ANN) has broken the bounds of the convention programming, which is actually a function of garbage in garbage out by its ability to mimic the human brain. Its ability to adopt, adapt, adjust, evaluate, learn and recognize the relationship, behavior, and pattern of a series of data set administered to it, is tailored after the human reasoning and learning mechanism. Thus, the study aimed at modeling wastewater treatment process in order to accurately diagnose water control problems for effective treatment. For this study, a stage ANN model development and evaluation methodology were employed. The source data analysis stage involved a statistical analysis of the data used in modeling in the model development stage, candidate ANN architecture development and then evaluated using a historical data set. The model was developed using historical data obtained from Daspoort Wastewater Treatment plant South Africa. The resultant designed dimensions and model for wastewater treatment plant provided good results. Parameters considered were temperature, pH value, colour, turbidity, amount of solids and acidity. Others are total hardness, Ca hardness, Mg hardness, and chloride. This enables the ANN to handle and represent more complex problems that conventional programming is incapable of performing.

Keywords: ANN, artificial neural network, wastewater treatment, model, development

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5555 The Improvement of Disease-Modifying Osteoarthritis Drugs Model Uptake and Retention within Two Cartilage Models

Authors: Polina Prokopovich

Abstract:

Disease-modifying osteoarthritis drugs (DMOADs) are a new therapeutic class for OA, preventing or inhibiting OA development. Unfortunately, none of the DMOADs have been clinically approved due to their poor therapeutic effects in clinical trials. The joint environment has played a role in the poor clinical performance of these drugs by limiting the amount of drug effectively delivered as well as the time that the drug spends within the joint space. The current study aims to enhance the cartilage uptake and retention time of the DMOADs-model (licofelone), which showed a significant therapeutic effect against OA progression and is currently in phase III. Licofelone will be covalently conjugated to the hydrolysable, cytocompatible, and cationic poly beta-amino ester polymers (PBAE). The cationic polymers (A16 and A87) can be electrostatically attached to the negatively charged cartilage component (glycosaminoglycan), which will increase the drug penetration through the cartilage and extend the drug time within the cartilage. In the cartilage uptake and retention time studies, an increase of 18 to 37 times of the total conjugated licofelone to A87 and A16 was observed when compared to the free licofelone. Furthermore, the conjugated licofelone to A87 was detectable within the cartilage at 120 minutes, while the free licofelone was not detectable after 60 minutes. Additionally, the A87-licofelone conjugate showed no effect on the chondrocyte viability. In conclusion, the cationic A87 and A16 polymers increased the percentage of licofelone within the cartilage, which could potentially enhance the therapeutic effect and pharmacokinetic performance of licofelone or other DMOADs clinically.

Keywords: PBAE, cartilage., osteoarthritis, injectable biomaterials, drug delivery

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5554 Design of a Lumbar Interspinous Process Fixation Device for Minimizing Soft Tissue Removal and Operation Time

Authors: Minhyuk Heo, Jihwan Yun, Seonghun Park

Abstract:

It has been reported that intervertebral fusion surgery, which removes most of the ligaments and muscles of the spine, increases the degenerative disease in adjacent spinal segments. Therefore, it is required to develop a lumbar interspinous process fixation device that minimizes the risks and side effects from the surgery. The objective of the current study is to design an interspinous process fixation device with simple structures in order to minimize soft tissue removal and operation time during intervertebral fusion surgery. For the design concepts of a lumbar fixation device, the principle of the ratchet was first applied on the joining parts of the device in order to shorten the operation time. The coil spring structure was selected for connecting parts between the spinous processes so that a normal range of motion in spinal segments is preserved and degenerative spinal diseases are not developed in the adjacent spinal segments. The stiffness of the spring was determined not to interrupt the motion of a lumbar spine. The designed value of the spring stiffness allows the upper part of the spring to move ~10° which is higher than the range of flexion and extension for normal lumbar spine (6°-8°), when a moment of 10Nm is applied on the upper face of L1. A finite element (FE) model composed of L1 to L5 lumbar spines was generated to verify the mechanical integrity and the dynamic stability of the designed lumbar fixation device and to further optimize the lumbar fixation device. The FE model generated above produced the same pressure value on intervertebral disc and dynamic behavior as the normal intact model reported in the literature. The consistent results from this comparison validates the accuracy in the modeling of the current FE model. Currently, we are trying to generate an abnormal model with defects in one or more components of the normal FE model above. Then, the mechanical integrity and the dynamic stability of the designed lumbar fixation device will be analyzed after being installed in the abnormal model and then the lumbar fixation device will be further optimized.

Keywords: lumbar interspinous process fixation device, finite element method, lumbar spine, kinematics

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5553 Modeling the International Economic Relations Development: The Prospects for Regional and Global Economic Integration

Authors: M. G. Shilina

Abstract:

The interstate economic interaction phenomenon is complex. ‘Economic integration’, as one of its types, can be explored through the prism of international law, the theories of the world economy, politics and international relations. The most objective study of the phenomenon requires a comprehensive multifactoral approach. In new geopolitical realities, the problems of coexistence and possible interconnection of various mechanisms of interstate economic interaction are actively discussed. Currently, the Eurasian continent states support the direction to economic integration. At the same time, the existing international economic law fragmentation in Eurasia is seen as the important problem. The Eurasian space is characterized by a various types of interstate relations: international agreements (multilateral and bilateral), and a large number of cooperation formats (from discussion platforms to organizations aimed at deep integration). For their harmonization, it is necessary to have a clear vision to the phased international economic relations regulation options. In the conditions of rapid development of international economic relations, the modeling (including prognostic) can be optimally used as the main scientific method for presenting the phenomenon. On the basis of this method, it is possible to form the current situation vision and the best options for further action. In order to determine the most objective version of the integration development, the combination of several approaches were used. The normative legal approach- the descriptive method of legal modeling- was taken as the basis for the analysis. A set of legal methods was supplemented by the international relations science prognostic methods. The key elements of the model are the international economic organizations and states' associations existing in the Eurasian space (the Eurasian Economic Union (EAEU), the European Union (EU), the Shanghai Cooperation Organization (SCO), Chinese project ‘One belt-one road’ (OBOR), the Commonwealth of Independent States (CIS), BRICS, etc.). A general term for the elements of the model is proposed - the interstate interaction mechanisms (IIM). The aim of building a model of current and future Eurasian economic integration is to show optimal options for joint economic development of the states and IIMs. The long-term goal of this development is the new economic and political space, so-called the ‘Great Eurasian Community’. The process of achievement this long-term goal consists of successive steps. Modeling the integration architecture and dividing the interaction into stages led us to the following conclusion: the SCO is able to transform Eurasia into a single economic space. Gradual implementation of the complex phased model, in which the SCO+ plays a key role, will allow building an effective economic integration for all its participants, to create an economically strong community. The model can have practical value for politicians, lawyers, economists and other participants involved in the economic integration process. A clear, systematic structure can serve as a basis for further governmental action.

Keywords: economic integration, The Eurasian Economic Union, The European Union, The Shanghai Cooperation Organization, The Silk Road Economic Belt

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5552 Reliability of the Estimate of Earthwork Quantity Based on 3D-BIM

Authors: Jaechoul Shin, Juhwan Hwang

Abstract:

In case of applying the BIM method to the civil engineering in the area of free formed structure, we can expect comparatively high rate of construction productivity as it is in the building engineering area. In this research, we developed quantity calculation error applying it to earthwork and bridge construction (e.g. PSC-I type segmental girder bridge amd integrated bridge of steel I-girders and inverted-Tee bent cap), NATM (New Austrian Tunneling Method) tunnel construction, retaining wall construction, culvert construction and implemented BIM based 3D modeling quantity survey. we confirmed high reliability of the BIM-based method in structure work in which errors occurred in range between -6% ~ +5%. Especially, understanding of the problem and improvement of the existing 2D-CAD based of quantity calculation through rock type quantity calculation error in range of -14% ~ +13% of earthwork quantity calculation. It is benefit and applicability of BIM method in civil engineering. In addition, routine method for quantity of earthwork has the same error tolerance negligible for that of structure work. But, rock type's quantity calculated as the error appears significantly to the reliability of 2D-based volume calculation shows that the problem could be. Through the estimating quantity of earthwork based 3D-BIM, proposed method has better reliability than routine method. BIM, as well as the design, construction, maintenance levels of information when you consider the benefits of integration, the introduction of BIM design in civil engineering and the possibility of applying for the effectiveness was confirmed.

Keywords: BIM, 3D modeling, 3D-BIM, quantity of earthwork

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5551 Influence of AAR-Induced Expansion Level on Confinement Efficiency of CFRP Wrapping Applied to Damaged Circular Concrete Columns

Authors: Thamer Kubat, Riadh Al Mahiadi, Ahmad Shayan

Abstract:

The alkali-aggregate reaction (AAR) in concrete has a negative influence on the mechanical properties and durability of concrete. Confinement by carbon fiber reinforced polymer (CFRP) is an effective method of treatment for some AAR-affected elements. Eighteen reinforced columns affected by different levels of expansion due to AAR were confined using CFRP to evaluate the effect of expansion level on confinement efficiency. Strength and strain capacities (axial and circumferential) were measured using photogrammetry under uniaxial compressive loading to evaluate the efficiency of CFRP wrapping for the rehabilitation of affected columns. In relation to uniaxial compression capacity, the results indicated that the confinement of AAR-affected columns by one layer of CFRP is sufficient to reach and exceed the load capacity of unaffected sound columns. Parallel to the experimental study, finite element (FE) modeling using ATENA software was employed to predict the behavior of CFRP-confined damaged concrete and determine the possibility of using the model in a parametric study by simulating the number of CFRP layers. A comparison of the experimental results with the results of the theoretical models showed that FE modeling could be used for the prediction of the behavior of confined AAR-damaged concrete.

Keywords: ATENA, carbon fiber reinforced polymer (CFRP), confinement efficiency, finite element (FE)

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5550 Effect of Transcutaneous Electrical Nerve Stimulation on Acupoints in Type 2 Diabetes Mellitus: A Blood Glucose Analysis

Authors: Asif Arsalan

Abstract:

The mortality rate of type 2 diabetes increasing day by day at an alarming rate. Changing lifestyle and environment have contributory effect in increase rate of type 2 diabetes mellitus. This study introduces a new method in physiotherapy field of treating a disease like diabetes, and gives the new way to control the diabetes without medicines.50 patients were selected on the basis of inclusion and exclusion criteria and were assigned to receive either TENS (group A) on the bilateral ST36 acupoints at a frequency of 25 Hz with intensity of 9 mA or placebo (group B) treatment for 5 minutes for 7 days. The blood glucose level was measured at both pre and post stimulation. Stimulation was given after 3 hours of food on every day regularly on stipulated time.There was significant improvement (P<0.05) in random blood sugar level of type 2 diabetes mellitus. It has been found TENS on bilateral ST36 acupoints have an effect to control plasma glucose level for type 2 diabetic mellitus patients and can be used without having any side effect. This study gives new idea to treat the type 2 diabetes conservatively with the TENS. As there are some study that TENS had been used to treat nausea, spasticity etc. condition by stimulating the acupoint but it is the very first time that TENS has been used to treat diabetes like disease. This study help the physiotherapy community to spread the physiotherapy treatment in other branches of the medical field and this gives a new identity for the physiotherapy. This also gives the benefit to patients to take a safe and cost effective treatment for the diabetes, and make the new use of TENS to treat other condition rather than pain.

Keywords: acupoint, plasma glucose level, type 2 diabetic mellitus, TENS

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5549 Apolipoprotein A1 -75 G to a Substitution and Its Relationship with Serum ApoA1 Levels among Indian Punjabi Population

Authors: Savjot Kaur, Mridula Mahajan, AJS Bhanwer, Santokh Singh, Kawaljit Matharoo

Abstract:

Background: Disorders of lipid metabolism and genetic predisposition are CAD risk factors. ApoA1 is the apolipoprotein component of anti-atherogenic high density lipoprotein (HDL) particles. The protective action of HDL and ApoA1 is attributed to their central role in reverse cholesterol transport (RCT). Aim: This study was aimed at identifying sequence variations in ApoA1 (-75G>A) and its association with serum ApoA1 levels. Methods: A total of 300 CAD patients and 300 Normal individuals (controls) were analyzed. PCR-RFLP method was used to determine the DNA polymorphism in the ApoA1 gene, PCR products digested with restriction enzyme MspI, followed by Agarose Gel Electrophoresis. Serum apolipoprotein A1 concentration was estimated with immunoturbidimetric method. Results: Deviation from Hardy- Weinberg Equilibrium (HWE) was observed for this gene variant. The A- allele frequency was higher among Coronary Artery disease patients (53.8) compared to controls (45.5), p= 0.004, O.R= 1.38(1.11-1.75). Under recessive model analysis (AA vs. GG+GA) AA genotype of ApoA1 G>A substitution conferred ~1 fold increased risk towards CAD susceptibility (p= 0.002, OR= 1.72(1.2-2.43). With serum ApoA1 levels < 107 A allele frequency was higher among CAD cases (50) as compared to controls (43.4) [p=0.23, OR= 1.2(0.84-2)] and there was zero % occurrence of A allele frequency in individuals with ApoA1 levels > 177. Conclusion: Serum ApoA1 levels were associated with ApoA1 promoter region variation and influence CAD risk. The individuals with the APOA1 -75 A allele confer excess hazard of developing CAD as a result of its effect on low serum concentrations of ApoA1.

Keywords: apolipoprotein A1 (G>A) gene polymorphism, coronary artery disease (CAD), reverse cholesterol transport (RCT)

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5548 Profile of the Renal Failure Patients under Haemodialysis at B. P. Koirala Institute of Health Sciences Nepal

Authors: Ram Sharan Mehta, Sanjeev Sharma

Abstract:

Introduction: Haemodialysis (HD) is a mechanical process of removing waste products from the blood and replacing essential substances in patients with renal failure. First artificial kidney developed in Netherlands in 1943 AD First successful treatment of CRF reported in 1960AD, life-saving treatment begins for CRF in 1972 AD. In 1973 AD Medicare took over financial responsibility for many clients and after that method become popular. BP Koirala institute of health science is the only center outside the Kathmandu, where HD service is available. In BPKIHS PD started in Jan.1998, HD started in August 2002 till September 2003 about 278 patients received HD. Day by day the number of HD patients is increasing in BPKIHS as with institutional growth. No such type of study was conducted in past hence there is lack of valid & reliable baseline data. Hence, the investigators were interested to conduct the study on " Profile of the Renal Failure patients under Haemodialysis at B.P. Koirala Institute of Health Sciences Nepal". Objectives: The objectives of the study were: to find out the Socio-demographic characteristics of the patients, to explore the knowledge of the patients regarding disease process and Haemodialysis and to identify the problems encountered by the patients. Methods: It is a hospital-based exploratory study. The population of the study was the clients under HD and the sampling method was purposive. Fifty-four patients undergone HD during the period of 17 July 2012 to 16 July 2013 of complete one year were included in the study. Structured interview schedule was used for collect data after obtaining validity and reliability. Results: Total 54 subjects had undergone for HD, having age range of 5-75 years and majority of them were male (74%) and Hindu (93 %). Thirty-one percent illiterate, 28% had agriculture their occupation, 80% of them were from very poor community, and about 30% subjects were unaware about the disease they suffering. Majority of subjects reported that they had no complications during dialysis (61%), where as 20% reported nausea and vomiting, 9% Hypotension, 4% headache and 2%chest pain during dialysis. Conclusions: CRF leading to HD is a long battle for patients, required to make major and continuous adjustment, both physiologically and psychologically. The study suggests that non-compliance with HD regimen were common. The socio-demographic and knowledge profile will help in the management and early prevention of disease and evaluate aspects that will influence care and patients can select mode of treatment themselves properly.

Keywords: profile, haemodialysis, Nepal, patients, treatment

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5547 Improving Medication Understanding, Use and Self-Efficacy among Stroke Patients: A Randomised Controlled Trial; Study Protocol

Authors: Jamunarani Appalasamy, Tha Kyi Kyi, Quek Kia Fatt, Joyce Pauline Joseph, Anuar Zaini M. Zain

Abstract:

Background: The Health Belief Theory had always been associated with chronic disease management. Various health behaviour concepts and perception branching from this Health Belief Theory had involved with medication understanding, use, and self-efficacy which directly link to medication adherence. In a previous quantitative and qualitative study, stroke patients in Malaysia were found to be strongly believing information obtained by various sources such as the internet and social communication. This action leads to lower perception of their stroke preventative medication benefit which in long-term creates non-adherence. Hence, this study intends to pilot an intervention which uses audio-visual concept incorporated with mHealth service to enhance learning and self-reflection among stroke patients to manage their disease. Methods/Design: Twenty patients will be allocated to a proposed intervention whereas another twenty patients are allocated to the usual treatment. The intervention involves a series of developed audio-visual videos sent via mobile phone which later await for responses and feedback from the receiver (patient) via SMS or recorded calls. The primary outcome would be the medication understanding, use and self-efficacy measured over two months pre and post intervention. Secondary outcome is measured from changes of blood parameters and other self-reported questionnaires. Discussion: This study shall also assess uptake/attrition, feasibility, and acceptability of this intervention. Trial Registration: NMRR-15-851-24737 (IIR)

Keywords: health belief, medication understanding, medication use, self-efficacy

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5546 Development of Low Glycemic Gluten Free Bread from Barnyard Millet and Lentil Flour

Authors: Hemalatha Ganapathyswamy, Thirukkumar Subramani

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Celiac disease is an autoimmune response to dietary wheat gluten. Gluten is the main structure forming protein in bread and hence developing gluten-free bread is a technological challenge. The study aims at using nonwheat flours like barnyard millet and lentil flour to replace wheat in bread formulations. Other characteristics of these grains, such as high protein, soluble fiber, mineral content and bioactive components make them attractive alternatives to traditional gluten-free ingredients in the production of high protein, gluten-free bread. The composite flour formulations for the development of gluten-free bread were optimized using lentil flour (50 to 70 g), barnyard millet flour (0 to 30 g) and corn flour (0 to 30 g) by means of response surface methodology with various independent variables for physical, sensorial and nutritional characteristics. The optimized composite flour which had a desirability value of 0.517, included lentil flour –62.94 g, barnyard millet flour– 24.34 g and corn flour– 12.72 g with overall acceptability score 8.00/9.00. The optimized gluten-free bread formulation had high protein (14.99g/100g) and fiber (1.95g/100g) content. The glycemic index of the gluten-free bread was 54.58 rendering it as low glycemic which enhances the functional benefit of the gluten-free bread. Since the standardised gluten-free bread from barnyard millet and lentil flour are high protein, and gluten-free with low glycemic index, the product would serve as an ideal therapeutic food in the management of both celiac disease and diabetes mellitus with better nutritional value.

Keywords: gluten free bread, lentil, low glycemic index, response surface methodology

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5545 Rapid Identification and Diagnosis of the Pathogenic Leptospiras through Comparison among Culture, PCR and Real Time PCR Techniques from Samples of Human and Mouse Feces

Authors: S. Rostampour Yasouri, M. Ghane, M. Doudi

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Leptospirosis is one of the most significant infectious and zoonotic diseases along with global spreading. This disease is causative agent of economoic losses and human fatalities in various countries, including Northern provinces of Iran. The aim of this research is to identify and compare the rapid diagnostic techniques of pathogenic leptospiras, considering the multifacetedness of the disease from a clinical manifestation and premature death of patients. In the spring and summer of 2020-2022, 25 fecal samples were collected from suspected leptospirosis patients and 25 Fecal samples from mice residing in the rice fields and factories in Tonekabon city. Samples were prepared by centrifugation and passing through membrane filters. Culture technique was used in liquid and solid EMJH media during one month of incubation at 30°C. Then, the media were examined microscopically. DNA extraction was conducted by extraction Kit. Diagnosis of leptospiras was enforced by PCR and Real time PCR (SYBR Green) techniques using lipL32 specific primer. Out of the patients, 11 samples (44%) and 8 samples (32%) were determined to be pathogenic Leptospira by Real time PCR and PCR technique, respectively. Out of the mice, 9 Samples (36%) and 3 samples (12%) were determined to be pathogenic Leptospira by the mentioned techniques, respectively. Although the culture technique is considered to be the gold standard technique, but due to the slow growth of pathogenic Leptospira and lack of colony formation of some species, it is not a fast technique. Real time PCR allowed rapid diagnosis with much higher accuracy compared to PCR because PCR could not completely identify samples with lower microbial load.

Keywords: culture, pathogenic leptospiras, PCR, real time PCR

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5544 Effect of Bariatric Surgery on Metabolic Syndrome, Framingham Risk Score and Thyroid Function

Authors: Nuha Alamro

Abstract:

Besides achieving of weight loss, Bariatric surgery (BS) shown metabolic improvement including reduction of cardiovascular disease, insulin resistance and diabetes. This study aimed to measure BS effects on Framingham Risk Score (FRS) and metabolic syndrome (MetS) among patients who underwent BS. Additionally, to determine the effect of BS on TSH among euthyroid obese patients. A Retrospective follow-up study was conducted in King Abdullah Medical City. A total of 160 participants who underwent BS and completed one year of follow ups. Medical history, biochemical, anthropometric, and hormonal parameters were evaluated at baseline and 3-12 months after BS. International Diabetes Federation (IDF) criteria were used to diagnose MetS pre and postoperative. The mean age of participants was 41.9 ± 10.6 with Body Mass Index (BMI) of 48.8 ± 7.3. After 3 months, Systolic, Diastolic blood pressure (SBP, DBP), glycated haemoglobin (HBA1C), Low-density lipoprotein (LDL), cholesterol, triglycerides and Thyroid stimulating hormone (TSH) were significantly decrease (P < 0.001). Significant decrease was seen in Mets, BMI, FRS, SBP, DBP, HBA1C, LDL, triglycerides, cholesterol, liver enzyme, with significant increase in high-density lipoprotein (HDL) level 12 months post-op (P < 0.001). After 1 year, the prevalence of MetS, DM, HTN, FRS were significantly decrease from 72.5%, 43.1%, 78.1%, 11.4 to 16.3%, 9.4%, 22.5% and 5.4, respectively. Besides achieving substantial weight loss, MetS resolution was linked to improvement in cardiovascular risk profile.

Keywords: bariatric surgery, cardiovascular disease, metabolic syndrome, thyroid stimulating hormone

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5543 The Frequency of Q Fever Among Hospitalized Patients with Pyrexia

Authors: Hassan Ali Abood Nassrullah, Jabbar Fadeel Mahdi, Mohammed Salih Mahdi Alkurdi, Ali Al Mousawi, Saad Ibrahim Al-Ghabban, Abdul Amir H. Kadhum, Ahmed Al-Amiery

Abstract:

Background: Q fever is a zoonotic disease characterized by its clinical polymorphism and can present acutely as fever, pneumonia, hepatitis, and chronically as infective endocarditis, arthritis, osteomyelitis, or hepatitis. Objective: The aim of this study is To estimate the prevalence of cases of Q fever in hospitalized febrile patients in Imam Al Hussain Teaching Medical City in Karbala. Methods: One hundred patients with pyrexia were admitted to the medical ward from 1st August to 31st December 2019. Serological procedures fortified by Enzyme-linked Immunosorbent Assay test. Patients were considered to have acute Q fever when the specific antibodies (IgM and IgG) of phase II of Coxiella burnetii were positive. Results: The mean age of the patients was 35.05±12.93 years; females constituted 60% of them. Eighteen patients (18%) showed positive results for IgM, a lower proportion (13% n=13) had positive IgG levels, and 9% showed equivocal results. Statistical analysis revealed a significant association between positive IgM levels of the female gender and in patients consuming unpasteurized milk. One patient (female aged 60 years) died in the hospital, while all other patients were discharged well. Two female patients were pregnant, and one of them had an abortion. Conclusions: Q fever is more common in febrile patients. The study indicates that this disease should not be overlooked in the differential diagnosis of acute fever. Serological testing should be performed in all patients with acute febrile illness with an unsettling diagnosis.

Keywords: antibodies, frequency, immunoglobulin IgM, Q fever

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5542 Prevalence of Lupus Glomerulonephritis in Renal Biopsies in an Eastern Region of the Arab World

Authors: M. Fayez Al Homsi, Reem Al Homsi

Abstract:

Renal disease is a major cause of morbidity and mortality. Glomerular diseases make a small portion of the renal disease. Lupus glomerulonephritis (GN) is the commonest among the GN of systemic diseases. More than a hundred and eighty-eight consecutive renal biopsies are performed and evaluated for clinically suspected glomerular diseases over a period of two years. As in a standard practice after receiving the ultrasound-guided renal biopsies, the fresh biopsy is divided to three parts, one part is frozen for immunofluorescence evaluation, the second part is placed in 4% glutaraldehyde for electron microscopic evaluation, and the third part is placed in 10% buffered formalin for light microscopic evaluation. Primary glomerular diseases are detected in 83 biopsies; glomerulonephritis (GN) of systemic diseases are identified in 88, glomerular lesions in vascular diseases in 3, glomerular lesions in metabolic diseases in 7, hereditary nephropathies in 2, end-stage kidney in 2, and glomerular lesions in transplantation in 3 biopsies. Among the primary lesions, focal segmental glomerulosclerosis (28) and mesangial proliferative GN (26) were the most common. Lupus GN (67) and Ig A nephropathy (20) were the most common of the GN of systemic diseases. Lupus nephritis biopsies included one biopsy diagnosed as class 1 (normal), 17 biopsies class 2 (mesangial proliferation), 5 biopsies class 3 (focal proliferative GN), 39 biopsies class 4 diffuse proliferative GN), 3 biopsies class 5 (membranous GN), and 2 biopsies class 6 (crescentic GN). Lupus GN is the most common among GN of systemic diseases. While diabetes is very common here, diabetic GN (3 biopsies) is not as common as might one expects. Most likely this is due to sampling and reluctance on part of nephrologists and patients in sampling the kidney in diabetes mellitus.

Keywords: diabetes, glomerulonephritis, lupus, mesangial proliferation, nephropathy

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5541 Structural Performance Evaluation of Segmented Wind Turbine Blade Through Finite Element Simulation

Authors: Chandrashekhar Bhat, Dilifa Jossley Noronha, Faber A. Saldana

Abstract:

Transportation of long turbine blades from one place to another is a difficult process. Hence a feasibility study of modularization of wind turbine blade was taken from structural standpoint through finite element analysis. Initially, a non-segmented blade is modeled and its structural behavior is evaluated to serve as reference. The resonant, static bending and fatigue tests are simulated in accordance with IEC61400-23 standard for comparison purpose. The non-segmented test blade is separated at suitable location based on trade off studies and the segments are joined with an innovative double strap bonded joint configuration. The adhesive joint is modeled by adopting cohesive zone modeling approach in ANSYS. The developed blade model is analyzed for its structural response through simulation. Performances of both the blades are found to be similar, which indicates that, efficient segmentation of the long blade is possible which facilitates easy transportation of the blades and on site reassembling. The location selected for segmentation and adopted joint configuration has resulted in an efficient segmented blade model which proves the methodology adopted for segmentation was quite effective. The developed segmented blade appears to be the viable alternative considering its structural response specifically in fatigue within considered assumptions.

Keywords: modularization, fatigue, cohesive zone modeling, wind turbine blade

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5540 The Effect of Foot Progression Angle on Human Lower Extremity

Authors: Sungpil Ha, Ju Yong Kang, Sangbaek Park, Seung-Ju Lee, Soo-Won Chae

Abstract:

The growing number of obese patients in aging societies has led to an increase in the number of patients with knee medial osteoarthritis (OA). Artificial joint insertion is the most common treatment for knee medial OA. Surgery is effective for patients with serious arthritic symptoms, but it is costly and dangerous. It is also inappropriate way to prevent a disease as an early stage. Therefore Non-operative treatments such as toe-in gait are proposed recently. Toe-in gait is one of non-surgical interventions, which restrain the progression of arthritis and relieves pain by reducing knee adduction moment (KAM) to facilitate lateral distribution of load on to knee medial cartilage. Numerous studies have measured KAM in various foot progression angle (FPA), and KAM data could be obtained by motion analysis. However, variations in stress at knee cartilage could not be directly observed or evaluated by these experiments of measuring KAM. Therefore, this study applied motion analysis to major gait points (1st peak, mid –stance, 2nd peak) with regard to FPA, and to evaluate the effects of FPA on the human lower extremity, the finite element (FE) method was employed. Three types of gait analysis (toe-in, toe-out, baseline gait) were performed with markers placed at the lower extremity. Ground reaction forces (GRF) were obtained by the force plates. The forces associated with the major muscles were computed using GRF and marker trajectory data. MRI data provided by the Visible Human Project were used to develop a human lower extremity FE model. FE analyses for three types of gait simulations were performed based on the calculated muscle force and GRF. We observed the maximum stress point during toe-in gait was lower than the other types, by comparing the results of FE analyses at the 1st peak across gait types. This is the same as the trend exhibited by KAM, measured through motion analysis in other papers. This indicates that the progression of knee medial OA could be suppressed by adopting toe-in gait. This study integrated motion analysis with FE analysis. One advantage of this method is that re-modeling is not required even with changes in posture. Therefore another type of gait simulation or various motions of lower extremity can be easily analyzed using this method.

Keywords: finite element analysis, gait analysis, human model, motion capture

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5539 Classifier for Liver Ultrasound Images

Authors: Soumya Sajjan

Abstract:

Liver cancer is the most common cancer disease worldwide in men and women, and is one of the few cancers still on the rise. Liver disease is the 4th leading cause of death. According to new NHS (National Health Service) figures, deaths from liver diseases have reached record levels, rising by 25% in less than a decade; heavy drinking, obesity, and hepatitis are believed to be behind the rise. In this study, we focus on Development of Diagnostic Classifier for Ultrasound liver lesion. Ultrasound (US) Sonography is an easy-to-use and widely popular imaging modality because of its ability to visualize many human soft tissues/organs without any harmful effect. This paper will provide an overview of underlying concepts, along with algorithms for processing of liver ultrasound images Naturaly, Ultrasound liver lesion images are having more spackle noise. Developing classifier for ultrasound liver lesion image is a challenging task. We approach fully automatic machine learning system for developing this classifier. First, we segment the liver image by calculating the textural features from co-occurrence matrix and run length method. For classification, Support Vector Machine is used based on the risk bounds of statistical learning theory. The textural features for different features methods are given as input to the SVM individually. Performance analysis train and test datasets carried out separately using SVM Model. Whenever an ultrasonic liver lesion image is given to the SVM classifier system, the features are calculated, classified, as normal and diseased liver lesion. We hope the result will be helpful to the physician to identify the liver cancer in non-invasive method.

Keywords: segmentation, Support Vector Machine, ultrasound liver lesion, co-occurance Matrix

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5538 Seroepidemiology of Q Fever among Companion Dogs in Fars Province, South of Iran

Authors: Atefeh Esmailnejad, Mohammad Abbaszadeh Hasiri

Abstract:

Coxiella burnetii is a gram-negative obligatory intracellular bacterium that causes Q fever, a significant zoonotic disease. Sheep, cattle, and goats are the most commonly reported reservoirs for the bacteria, but infected cats and dogs have also been implicated in the transmission of the disease to human. The aim of present study was to investigate the presence of antibodies against Coxiella burnetii among companion dogs in Fars province, South of Iran. A total of 181 blood samples were collected from asymptomatic dogs, mostly referred to Veterinary Hospital of Shiraz University for regular vaccination. The IgG antibody detection against Coxiella burnetii was made by indirect Enzyme-linked Immunosorbent Assay (ELISA), employing phase I and II Coxiella burnetii antigens. A logistic regression model was developed to analyze multiple risk factors associated with seropositivity. An overall seropositivity of 7.7% (n=14) was observed. Prevalence was significantly higher in adult dogs above five years (18.18 %) compared with dogs between 1 and five years (7.86 %) and less than one year (6.17%) (P=0.043). Prevalence was also higher in male dogs (11.21 %) than in female (2.7 %) (P=0.035). There were no significant differences in the prevalence of positive cases and breed, type of housing, type of food and exposure to other farm animals (P>0.05). The results of this study showed the presence of Coxiella burnetii infection among the companion dogs population in Fars province. To our knowledge, this is the first study regarding Q fever in dogs carried out in Iran. In areas like Iran, where human cases of Q fever are not common or remain unreported, the public health implications of Q fever seroprevalence in dogs are quite significant.

Keywords: Coxiella burnetii, dog, Iran, Q fever

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5537 Date Palm Fruits from Oman Attenuates Cognitive and Behavioral Defects and Reduces Inflammation in a Transgenic Mice Model of Alzheimer's Disease

Authors: M. M. Essa, S. Subash, M. Akbar, S. Al-Adawi, A. Al-Asmi, G. J. Guillemein

Abstract:

Transgenic (tg) mice which contain an amyloid precursor protein (APP) gene mutation, develop extracellular amyloid beta (Aβ) deposition in the brain, and severe memory and behavioral deficits with age. These mice serve as an important animal model for testing the efficacy of novel drug candidates for the treatment and management of symptoms of Alzheimer's disease (AD). Several reports have suggested that oxidative stress is the underlying cause of Aβ neurotoxicity in AD. Date palm fruits contain very high levels of antioxidants and several medicinal properties that may be useful for improving the quality of life in AD patients. In this study, we investigated the effect of dietary supplementation of Omani date palm fruits on the memory, anxiety and learning skills along with inflammation in an AD mouse model containing the double Swedish APP mutation (APPsw/Tg2576). The experimental groups of APP-transgenic mice from the age of 4 months were fed custom-mix diets (pellets) containing 2% and 4% Date palm fruits. We assessed spatial memory and learning ability, psychomotor coordination, and anxiety-related behavior in Tg and wild-type mice at the age of 4-5 months and 18-19 months using the Morris water maze test, rota rod test, elevated plus maze test, and open field test. Further, inflammatory parameters also analyzed. APPsw/Tg2576 mice that were fed a standard chow diet without dates showed significant memory deficits, increased anxiety-related behavior, and severe impairment in spatial learning ability, position discrimination learning ability and motor coordination along with increased inflammation compared to the wild type mice on the same diet, at the age of 18-19 months In contrast, PPsw/Tg2576 mice that were fed a diet containing 2% and 4% dates showed a significant improvements in memory, learning, locomotor function, and anxiety with reduced inflammatory markers compared to APPsw/Tg2576 mice fed the standard chow diet. Our results suggest that dietary supplementation with dates may slow the progression of cognitive and behavioral impairments in AD. The exact mechanism is still unclear and further extensive research needed.

Keywords: Alzheimer's disease, date palm fruits, Oman, cognitive decline, memory loss, anxiety, inflammation

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5536 Genetics of Atopic Dermatitis: Role of Cytokine Genes Polymorphisms

Authors: Ghaleb Bin Huraib

Abstract:

Atopic dermatitis (AD), also known as atopic eczema, is a chronic inflammatory skin disease characterized by severe itching and recurrent, relapsing eczema-like skin lesions, affecting up to 20% of children and 10% of adults in industrialized countries. AD is a complex multifactorial disease, and its exact etiology and pathogenesis have not been fully elucidated. The aim of this study was to investigate the impact of gene polymorphisms of T helper cell subtype Th1 and Th2 cytokines, interferon-gamma (IFN-γ), interleukin-6 (IL-6) and transforming growth factor (TGF)-β1on AD susceptibility in a Saudi cohort. One hundred four unrelated patients with AD and 195 healthy controls were genotyped for IFN-γ (874A/T), IL-6 (174G/C) and TGF-β1 (509C/T) polymorphisms using ARMS-PCR and PCR-RFLP technique. The frequency of genotypes AA and AT of IFN-γ (874A/T) differed significantly among patients and controls (P 0.001). The genotype AT was increased while genotype AA was decreased in AD patients as compared to controls. AD patients also had a higher frequency of T-containing genotypes (AT+TT) than controls (P = 0.001). The frequencies of alleles T and A were statistically different in patients and controls (P = 0.04). The frequencies of genotype GG and allele G of IL-6 (174G/C) were significantly higher, while genotype GC and allele C were lower in AD patients than in controls. There was no significant difference in the frequencies of alleles and genotypes of TGF-β1 (509C/T) polymorphism between the patient and control groups. These results showed that susceptibility to AD is influenced by the presence or absence of genotypes of IFN-γ (874A/T) and IL-6 (174G/C) polymorphisms. It is concluded T-allele and T-containing genotypes (AT+TT) of IFN-γ (874A/T) and G-allele and GG genotype ofIL-6 (174G/C) polymorphisms are susceptible to AD in Saudis. On the other hand, the TGF-β1 (509C/T) polymorphism may not be associated with AD risk in our population; however, further studies with large sample sizes are required to confirm these results.

Keywords: atopic dermatitis, Polymorphism, Interferon, IL-6

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5535 Viewing Entrepreneurship Through a Goal Congruity Lens: The Roles of Dominance and Communal Goal Orientations in Women’s and Men’s Venture Interests

Authors: Xiaoming Yang, Abby Folberg, Carey Ryan, Lwetzel, Tgoering

Abstract:

We examined gender differences in entrepreneurial career interests drawing on goal congruity theory, which posits that people adopt gender-stereotypic goal orientations in response to social pressures to conform to traditional gender roles. Aspiring entrepreneurs (N = 351) first wrote three to five sentences about what they believed made an entrepreneur successful. They then completed measures of agentic and communal goal orientations (i.e., male and female stereotypic orientations, respectively) and indicated their interests in starting ventures in stereotypically feminine (e.g., salon), masculine (e.g., auto-repair) and science, technology, engineering, and mathematics (STEM; e.g., software developer) ventures. Qualitative analyses demonstrated that participants ascribed agentic and, more specifically, dominance, attributes to entrepreneurs; few participants ascribed communal attributes (e.g., warmth). Bifactor structural equation modeling indicated that, as expected, agentic goal orientations included dimensions of competence, self-direction, and dominance orientations and communal goal orientations were unidimensional. Further, as expected, dominance and communal orientations partially accounted for gender differences in all three career types. We discuss implications for entrepreneurial education and practice from a goal congruity perspective and the use of bifactor modeling to improve the measurement of goal orientations.

Keywords: gender, entrepreneurship, gender stereotypes, agentic and communal goal orientations, entrepreneurship education

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5534 Association of Human Immunodeficiency Virus with Incident Autoimmune Hemolytic Anemia: A Population-Based Cohort Study in Taiwan

Authors: Yung-Feng Yen, I-an Jen, Yi-Ming Arthur Chen

Abstract:

The molecular mimicry between human immunodeficiency virus (HIV) protein and red blood cell (RBC) antigens could induce the production of anti-RBC autoantibodies. However, the association between HIV infection and subsequent development of autoimmune hemolytic anemia (AIHA) remains unclear. This nationwide population-based cohort study aimed to determine the association between incident AIHA and HIV in Taiwan. From 2000–2012, we identified adult people living with HIV/AIDS (PLWHA) from the Taiwan centers for disease control HIV Surveillance System. HIV-infected individuals were defined by positive HIV-1 western blot. Age- and sex-matched controls without HIV infection were selected from the Taiwan National Health Insurance Research Database for comparison. All patients were followed until Dec. 31, 2012, and observed for occurrence of AIHA. Of 171,468 subjects (19,052 PLWHA, 152,416 controls), 30 (0.02%) had incident AIHA during a mean follow-up of 5.45 years, including 23 (0.12%) PLWHA and 7 (0.01%) controls. After adjusting for potential confounders, HIV infection was found to be an independent risk factor of incident AIHA (adjusted hazard ratio [AHR], 20.9; 95% confidence interval [CI], 8.34-52.3). Moreover, PLWHA receiving HAART were more likely to develop AIHA than those not receiving HAART (AHR, 10.8; 95% CI, 2.90-40.1). Additionally, the risk of AIHA was significantly increased in those taking efavirenz (AHR, 3.15; 95% CI, 1.18-8.43) or atazanavir (AHR, 6.58; 95% CI, 1.88-22.9) component of the HAART. In conclusion, HIV infection is an independent risk factor for incident AIHA. Clinicians need to be aware of the higher risk of AIHA in PLWHA.

Keywords: autoimmune disease , hemolytic anemia, HIV, highly active antiretroviral treatment

Procedia PDF Downloads 233
5533 A Data-Driven Compartmental Model for Dengue Forecasting and Covariate Inference

Authors: Yichao Liu, Peter Fransson, Julian Heidecke, Jonas Wallin, Joacim Rockloev

Abstract:

Dengue, a mosquito-borne viral disease, poses a significant public health challenge in endemic tropical or subtropical countries, including Sri Lanka. To reveal insights into the complexity of the dynamics of this disease and study the drivers, a comprehensive model capable of both robust forecasting and insightful inference of drivers while capturing the co-circulating of several virus strains is essential. However, existing studies mostly focus on only one aspect at a time and do not integrate and carry insights across the siloed approach. While mechanistic models are developed to capture immunity dynamics, they are often oversimplified and lack integration of all the diverse drivers of disease transmission. On the other hand, purely data-driven methods lack constraints imposed by immuno-epidemiological processes, making them prone to overfitting and inference bias. This research presents a hybrid model that combines machine learning techniques with mechanistic modelling to overcome the limitations of existing approaches. Leveraging eight years of newly reported dengue case data, along with socioeconomic factors, such as human mobility, weekly climate data from 2011 to 2018, genetic data detecting the introduction and presence of new strains, and estimates of seropositivity for different districts in Sri Lanka, we derive a data-driven vector (SEI) to human (SEIR) model across 16 regions in Sri Lanka at the weekly time scale. By conducting ablation studies, the lag effects allowing delays up to 12 weeks of time-varying climate factors were determined. The model demonstrates superior predictive performance over a pure machine learning approach when considering lead times of 5 and 10 weeks on data withheld from model fitting. It further reveals several interesting interpretable findings of drivers while adjusting for the dynamics and influences of immunity and introduction of a new strain. The study uncovers strong influences of socioeconomic variables: population density, mobility, household income and rural vs. urban population. The study reveals substantial sensitivity to the diurnal temperature range and precipitation, while mean temperature and humidity appear less important in the study location. Additionally, the model indicated sensitivity to vegetation index, both max and average. Predictions on testing data reveal high model accuracy. Overall, this study advances the knowledge of dengue transmission in Sri Lanka and demonstrates the importance of incorporating hybrid modelling techniques to use biologically informed model structures with flexible data-driven estimates of model parameters. The findings show the potential to both inference of drivers in situations of complex disease dynamics and robust forecasting models.

Keywords: compartmental model, climate, dengue, machine learning, social-economic

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5532 Effects of Surface Roughness on a Unimorph Piezoelectric Micro-Electro-Mechanical Systems Vibrational Energy Harvester Using Finite Element Method Modeling

Authors: Jean Marriz M. Manzano, Marc D. Rosales, Magdaleno R. Vasquez Jr., Maria Theresa G. De Leon

Abstract:

This paper discusses the effects of surface roughness on a cantilever beam vibrational energy harvester. A silicon sample was fabricated using MEMS fabrication processes. When etching silicon using deep reactive ion etching (DRIE) at large etch depths, rougher surfaces are observed as a result of increased response in process pressure, amount of coil power and increased helium backside cooling readings. To account for the effects of surface roughness on the characteristics of the cantilever beam, finite element method (FEM) modeling was performed using actual roughness data from fabricated samples. It was found that when etching about 550um of silicon, root mean square roughness parameter, Sq, varies by 1 to 3 um (at 100um thick) across a 6-inch wafer. Given this Sq variation, FEM simulations predict an 8 to148 Hz shift in the resonant frequency while having no significant effect on the output power. The significant shift in the resonant frequency implies that careful consideration of surface roughness from fabrication processes must be done when designing energy harvesters.

Keywords: deep reactive ion etching, finite element method, microelectromechanical systems, multiphysics analysis, surface roughness, vibrational energy harvester

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5531 Contribution of PALB2 and BLM Mutations to Familial Breast Cancer Risk in BRCA1/2 Negative South African Breast Cancer Patients Detected Using High-Resolution Melting Analysis

Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

Abstract:

Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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5530 Coping Strategies of Parents of a Child with Asthma in Relation to the Child's Disease

Authors: Irma Nool, Katriin Saueauk, Ebe Siimson, Vlada Žukova, Elise Gertrud Vellet

Abstract:

Background: Asthma is one of themostcommonchronicdiseases in children, whichcansignificantlyaffectchildren, and challengetheirfamilies. The unpredictability, frequency, and control of asthma attacks have a profound effect on the daily lives of familieswithasthmaticchildren. Thereis a growing body of researchshowingthatthequality of life of parents and childrenislinkedtothedevelopment of asthma. Theoretical and clinicalstudiesprovethat a positive and well-functioningfamilysystemhelpstocopebetterwiththediagnosis of the chronic disease. The aim of theresearchwastodescribethecopingstrategies of parents of a childwithasthmaconcerningthechild'sillness. Method: Theresearchwasanempirical, quantitative, descriptive study. Thesamplewastheparents of a child with asthma at the Tallinn Children'sHospital, whose child was in inpatienttreatmentbetween 07.04.2021 and 12.09.2021. This is a convenient sample. 59 parentsrepliedtothequestionnaire. The questionnaire “CopingInventoryforStressfulSituations” wasusedtocollectthedata, whichwastranslatedinto Estonian and Russian using a back-and-forthtranslationtechnique. Thequestionnairewasanswered on a 5-point Likert scale. Dataanalysiswasperformedusing SPSS 26.0, descriptive statistics, with mean values and standard deviation. The Mann-Whitney U test wasusedtocomparefathers and motherscopingstrategies. PermissiontoconductresearchhasbeenobtainedfromtheEthicsCommitteeforHuman Research of theInstituteforHealthDevelopment. Results: The mean age of the respondents was 40 ± 6.2 years (median 40), withtheyoungestbeing 27 yearsold and the oldest being 57 yearsold. Of the respondents, 51 (86.4%) were mothers, and 8 (13.6%) werefathers. Parentsusedthemosttask-orientedcopingstrategies (mean 3.35 ± 0.602) and theleastemotion-orientedcopingstrategies (mean 1.97 ± 0.526). Mothersusedmoretask-orientedcopingstrategies (p = 0.001) than fathers. Fathersusedemotion-orientedcopingstrategiesless (p = 0.024) than mothers. mothersplantheirtimebetter (p = 0.043), focus on the problem and look at how to solve it (p = 0.007), and makeanefforttogetthingsdone (p = 0.045). mothersblamethemselvesmorefornotknowingwhattodo (p = 0.045) and worryaboutwhattheyshoulddo (p = 0.027). mothers look more at the goods displayed in the shop windows (p = 0.018) and go for a walk (p = 0.007) compared to fathers. Conclusions: The results of theresearchshowedthatproblem-orientedcopingstrategiesare used the most and there are differences in the behavior of fathers and mothers. Thisshouldbetakenintoaccountwhenprovidingfamily-centered nursing care.

Keywords: asthma, coping strategies, parents, family

Procedia PDF Downloads 111