Search results for: glycogen storage disease

Authors: Mojgan Rabiey, Shyamali Roy, Billy Quilty, Ryan Creeth, George Sundin, Robert W. Jackson

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Bacterial canker is a major disease of Prunus species such as cherry (Prunus avium). It is caused by Pseudomonas syringae species including P. syringae pv. syringae (Pss) and P. syringae pv. morsprunorum race 1 (Psm1) and race 2 (Psm2). Concerns over the environmental impact of, and developing resistance to, copper controls call for alternative approaches to disease management. One method of control could be achieved using naturally occurring bacteriophage (phage) infective to the bacterial pathogens. Phages were isolated from soil, leaf, and bark of cherry trees in five locations in the South East of England. The phages were assessed for their host range against strains of Pss, Psm1, and Psm2. The phages exhibited a differential ability to infect and lyse different Pss and Psm isolates as well as some other P. syringae pathovars. However, the phages were unable to infect beneficial bacteria such as Pseudomonas fluorescens. A subset of 18 of these phages were further characterised genetically (Random Amplification of Polymorphic DNA-PCR fingerprinting and sequencing) and using electron microscopy. The phages are tentatively identified as belonging to the order Caudovirales and the families Myoviridae, Podoviridae, and Siphoviridae, with genetic material being dsDNA. Future research will fully sequence the phage genomes. The efficacy of the phage, both individually and in cocktails, to reduce disease progression in vivo will be investigated to understand the potential for practical use of these phages as biocontrol agents.

Keywords: bacteriophage, pseudomonas, bacterial cancker, biological control

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Authors: Nadia Akbarpour

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Pancreatic ductal adenocarcinoma is a forceful and obliterating illness, which is portrayed by intrusiveness, fast movement, and significant protection from treatment. Advances in neurotic arrangement and malignant growth hereditary qualities have worked on our illustrative comprehension of this infection; be that as it may, significant parts of pancreatic disease science remain ineffectively comprehended. A superior comprehension of pancreatic disease science should lead the way to more viable medicines. In the course of the most recent couple of years, there have been significant advances in the sub-atomic and organic comprehension of pancreatic malignancy. This included comprehension of the genomic intricacy of the illness, the job of pancreatic malignant growth undifferentiated organisms, the importance of the growth microenvironment, and the one-of-a-kind metabolic transformation of pancreas disease cells to acquire supplements under hypoxic climate. Endeavors have been made towards the advancement of the practical answer for its treatment with compelled achievement due to its complicated science. It is grounded that pancreatic malignancy undifferentiated cells (CSCs), yet present in a little count, contribute extraordinarily to PC inception, movement, and metastasis. Standard chemo and radiotherapeutic choices, notwithstanding, grow general endurance, the connected aftereffects are a huge concern. In the midst of the latest decade, our understanding with regards to atomic and cell pathways engaged with PC and the job of CSCs in its movement has expanded massively. By and by, the center is to target CSCs. The natural items have acquired a lot of thought as of late as they, generally, sharpen CSCs to chemotherapy and target atomic flagging engaged with different cancers, including PC. Some arranged investigations have demonstrated promising outcomes recommending that assessments in this course bring a ton to the table for the treatment of PC. Albeit preclinical investigations uncovered the significance of natural items in lessening pancreatic carcinoma, restricted examinations have been led to assess their part in centers. The current survey gives another knowledge to late advances in pancreatic malignancy science, treatment, and the current status of natural items in its expectation.

Keywords: pancreatic, genomic, organic, cancer

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Authors: Ahmed Zaghawa

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Rift Valley Fever is an economically specific disease of the health and arboviral disease that affects many types of animals, causing significant economic losses in livestock, and it is transmitted to humans and has public health issues. The vaccine program is the backbone for the control of this disease. The goal of this study was to apply a new approach to evaluate the inactivated RVF vaccine developed in Egypt. In this study, the RVF vaccine was evaluated in young puppies and compared with sheep; the findings showed that young puppies were susceptible to infection with the inhibitory RVF virus and had a strong response of antibodies with two doses of the RVF vaccine within the two-week interval. The neutralization indices began to appear to the protective level on the 7th day at 1.35 and steadily elevated at 14,21 and 28 days to 1.35, 1.43, and 1.20, respectively, in comparison to the control group. While in sheep, the neutralization indices began to appear to the protective level on the 7th day at 1.10 and remain strongly at high titer at 14, 21, and 28 days with NI values 1.20, 1.50, and 1.50, respectively. The new approach for comparing the immune response in puppies and sheep via SNT indicated the high response in both species was evident as well as the neutralization indices values in young puppies at different periods after RVF vaccination reported the value of 1.08±0.03, 1.23±0.04, 1.30±0.03, and 1.45±0.02 after 7, 14, 21, and 28 days post-vaccination respectively. On the other side, a nearly similar immune response was noticed in sheep with NI values of 1.15±0.02, 1.27±0.02, 1.42±0.05, and 1.55±0.03 at 7, 14, 21, and 28 days post-vaccination, respectively. In conclusion, young puppies are similar to sheep in developing antibodies after vaccination with the RVF vaccine and can replace sheep for evaluating the efficacy of the RVF vaccine. Further studies are mandatory to assess more recent methods for evaluating inhibition of the RVF vaccine.

Keywords: immune response, puppies, RVF, sheep, vaccine

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Authors: Mehdi Ghatei, Masoomeh Lorestani

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Upstream Tailings Storage Facilities (TSFs) may experience slope instabilities due to soil liquefaction, especially in regions known to be seismically active. In this study, liquefaction susceptibility of an upstream-raised TSF in Western Australia was assessed using two different approaches. The first approach assessed liquefaction susceptibility using Cone Penetration Tests with pore pressure measurement (CPTu) as described by the National Centre for Earthquake Engineering Research (NCEER). This assessment was based on the four CPTu tests that were conducted on the perimeter embankment of the TSF. The second approach used the Finite Element (FE) method with application of an equivalent linear model to predict the undrained cyclic behavior, the pore water pressure and the liquefaction of the materials. The tailings parameters were estimated from the CPTu profiles and from the laboratory tests. The cyclic parameters were estimated from the literature where test results of similar material were available. The results showed that there was a good agreement, in the liquefaction susceptibility of the tailings material, between the NCEER and FE methods with equivalent linear model.

Keywords: liquefaction , CPTU, NCEER, finite element method, equivalent linear model

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Authors: Anthony Barker, Roland Jiang

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Dupuytren’s contractures are a debilitating condition affecting the palmar fascia of the hand reducing its function. This case series looks at the minimally-invasive technique of Xiaflex injections and the outcome in a public health setting. 15 patients undertook collagenase injection (Xiaflex, C. histolyticum) injection over the period from September 2015 to May 2017 at Fairfield Hospital, NSW. Their reported outcome post injection and in follow-up was recorded as well as their satisfaction and likelihood to request the procedure in the future. Other treatment modalities include percutaneous needle aponeurotomy, limited palmar fasciotomy, and palmar fasciectomy. A literature review of cost-effectiveness was performed to compare Xiaflex suitability for waitlist reduction in a public setting given average waiting times in the public setting extend past 365 days.

Keywords: Dupuytrens Disease, xiaflex, collagenase, plastic surgery

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Authors: Mario Isaza-Ruget, Claudia C. Colmenares-Mejia, Nancy Yomayusa, Camilo A. González, Andres Cely, Jossie Murcia

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Quantification of risks associated with complications development from chronic kidney disease (CKD) through accurate survival models can help with patient management. A retrospective cohort that included patients diagnosed with CKD from a primary care program and followed up between 2013 and 2018 was carried out. Time-dependent and static covariates associated with demographic, clinical, and laboratory factors were included. Deep Learning (DL) survival analyzes were developed for three CKD outcomes: CKD stage progression, >25% decrease in Estimated Glomerular Filtration Rate (eGFR), and Renal Replacement Therapy (RRT). Models were evaluated and compared with Random Survival Forest (RSF) based on concordance index (C-index) metric. 2.143 patients were included. Two models were developed for each outcome, Deep Neural Network (DNN) model reported C-index=0.9867 for CKD stage progression; C-index=0.9905 for reduction in eGFR; C-index=0.9867 for RRT. Regarding the RSF model, C-index=0.6650 was reached for CKD stage progression; decreased eGFR C-index=0.6759; RRT C-index=0.8926. DNN models applied in survival analysis context with considerations of longitudinal covariates at the start of follow-up can predict renal stage progression, a significant decrease in eGFR and RRT. The success of these survival models lies in the appropriate definition of survival times and the analysis of covariates, especially those that vary over time.

Keywords: artificial intelligence, chronic kidney disease, deep neural networks, survival analysis

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Authors: Hassan Alsada

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Tank overfill accidents are major concerns for industries handling large volumes of hydrocarbons. Buncefield, Jaipur, Puerto Rico, and West Virginia are just a few accidents with catastrophic consequences. Thus, it is very important for any industry to take the right safety measures for overfill prevention. Moreover, one of the main causative factors in the overfill accidents was inadequate risk analysis and, subsequently, inadequate design. This study aims to provide a full assessment in accordance with the Functional safety standard: “IEC 615 11 – Safety instrumented systems for the process industry” to the tank overfill scenario according to the standard’s Safety Life Cycle (SLC), which includes: the analysis phase, the implementation phase, and the operation phase. The paper discusses in depth the tank overfills Independent Protection Layers (IPLs) with systematic analysis to avoid the safety risks of under-design and the financial risk of facility overdesign. The result shows a clear and systematic assessment in compliance with the standards that can help to assist existing tank overfilling setup or a guide to support designing new storage facilities overfill protection.

Keywords: IEC 61511, PHA, LOPA, process safety, safety, health, environment, safety instrumented systems, safety instrumented function, functional safety, safety life cycle

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Authors: G. Kaur, A. P. Kulkarni, S. Giddey

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Production of fuels and chemicals using renewable energy is a promising way for large-scale energy storage and export. Solid oxide electrolysers (SOEs) integrated with renewable source of energy can produce 'Syngas' H₂/CO from H₂O/CO₂ in the desired ratio for further conversion to liquid fuels. As only a waste CO₂ from industrial and power generation processes is utilized in these processes, this approach is CO₂ neutral compared to using fossil fuel feedstock. In addition, the waste heat from industrial processes or heat from solar thermal concentrators can be effectively utilised in SOEs to further reduce the electrical requirements by up to 30% which boosts overall energy efficiency of the process. In this paper, the electrochemical performance of various novel steam/CO₂ reduction electrodes (cathode) would be presented. The efficiency and lifetime degradation data for single cells and a stack would be presented along with the response of cells to variable electrical load input mimicking the intermittent nature of the renewable energy sources. With such optimisation, newly developed electrodes have been tested for 500+ hrs with Faraday efficiency (electricity to fuel conversion efficiency) up to 95%, and thermal efficiency in excess of 70% based upon energy content of the syngas produced.

Keywords: carbon dioxide, steam conversion, electrochemical system, energy storage, fuel production, renewable energy

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Authors: Muhammad Yousaf Ali, Shahid Mansoor, Javeria Qazi, Imran Amin, Musarrat Shaheen

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Cotton leaf curl disease (CLCuD) is the major threat to the cotton crop and is transmitted by whitefly (Bemisia tabaci). Since multiple begomoviruses and associated satellites are involved in CLCuD, approaches based on the concept of broad-spectrum resistance are essential for effective disease control. Gro-El and G5 are two proteins from whitefly endosymbiont and M13 bacteriophage origin, respectively. Gro-El encapsulates the virus particle when it enters the whitefly and protects the virus from the immune system of the whitefly as well as prevents viral expression in it. This characteristic of Gro-El can be exploited to get resistance against viruses if expressed in plants. G5 is a single-stranded DNA binding protein, expression of which in transgenic plants will stop viral expression on its binding with ssDNA. The use of tissue-specific promoters is more efficient than constitutive promoters. Transgenics of Nicotiana benthamiana for Gro-El under constitutive promoter and Gro-El under phloem specific promoter were made. In comparison to non-transgenic plants, transgenic plants with Gro-El under NSP promoter showed promising results when challenged against cotton leaf curl Multan virus (CLCuMuV) along with cotton leaf curl Multan beta satellite (CLCuMB), cotton leaf curl Khokhran virus (CLCuKoV) along with cotton leaf curl Multan beta satellite (CLCuMB) and Pedilenthus leaf curl virus (PedLCV) along with Tobacco leaf curl beta satellite (TbLCB).

Keywords: cotton leaf curl disease, whitefly, endosymbionts, transgenic, resistance

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Authors: Arrate Barrenechea Garro

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Background: Bilingualism has been shown to enhance cognitive reserve and potentially delay the onset of dementia symptoms. This study investigates the impact of bilingualism on cognitive reserve and the age of diagnosis in Parkinson's Disease (PD). Methodology: The study involves 16 non-demented monolingual PD patients and 12 non-demented bilingual PD patients, matched for age, sex, and years of education. All participants are native Spanish speakers, with Spanish as their first language (L1). Cognitive performance is assessed through a neuropsychological examination covering all cognitive domains. Cognitive reserve is measured using the Cognitive Reserve Index Questionnaire (CRIq), while language proficiency is evaluated using the Bilingual Language Profile (BLP). The age at diagnosis is recorded for both monolingual and bilingual patients. Results: Bilingual PD patients demonstrate higher scores on the CRIq compared to monolingual PD patients, with significant differences between the groups. Furthermore, there is a positive correlation between cognitive reserve (CRIq) and the utilization of the second language (L2) as indicated by the BLP. Bilingual PD patients are diagnosed, on average, three years later than monolingual PD patients. Conclusion: Bilingual PD patients exhibit higher levels of cognitive reserve compared to monolingual PD patients, as indicated by the CRIq scores. The utilization of the second language (L2) is positively correlated with cognitive reserve. Bilingual PD patients are diagnosed with PD, on average, three years later than monolingual PD patients. These findings suggest that bilingualism may contribute to cognitive reserve and potentially delay the onset of clinical symptoms associated with PD. This study adds to the existing literature supporting the relationship between bilingualism and cognitive reserve. Further research in this area could provide valuable insights into the potential protective effects of bilingualism in neurodegenerative disorders.

Keywords: bilingualis, cogntiive reserve, diagnosis, parkinson's disease

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Authors: Simone Rondelli, Damiano Rondelli, Bishesh Poudyal, Juan Jose Cabrera-Lazarini

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One of the main obstacles for Social Entrepreneurship is to find a business model that is financially sustainable. In other words, the captured value generates enough cash flow to ensure business continuity and reinvestment for growth. Providing Health Services in poor countries for the uninsured population affected by a high-cost chronical disease is not the exception for this challenge. As a prime example, cancer has become a high impact on a global disease not only because of the high morbidity but also of the financial impact on both the patient family and health services in underdeveloped countries. Therefore, it is relevant to find a Social Entrepreneurship Model that provides affordable treatment for this disease while maintaining healthy finances not only for the patient but also for the organization providing the treatment. Using the methodology of Constructive Research, this paper applied a Positive Theory and four business models of Social Entrepreneurship to a case of a Private Foundation model whose mission is to address the challenge previously described. It was found that the Foundation analyzed, in this case, is organized as an Embedded Business Model and complies with the four propositions of the Positive Theory considered. It is recommended for this Private Foundation to explore implementing the Integrated Business Model to ensure more robust sustainability in the long term. It evolves as a scalable model that can attract investors interested in contributing to expanding this initiative globally.

Keywords: affordable treatment, global healthcare, social entrepreneurship theory, sustainable business model

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Authors: Yiwei Li, Boyu Tian, Mingyu Gao

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Hybrid main memory systems combine both performance and capacity advantages from heterogeneous memory technologies. With larger capacities, higher associativities, and finer granularities, hybrid memory systems currently exhibit significant metadata storage and lookup overheads for flexibly remapping data blocks between the two memory tiers. To alleviate the inefficiencies of existing designs, we propose Trimma, the combination of a multi-level metadata structure and an efficient metadata cache design. Trimma uses a multilevel metadata table to only track truly necessary address remap entries. The saved memory space is effectively utilized as extra DRAM cache capacity to improve performance. Trimma also uses separate formats to store the entries with non-identity and identity mappings. This improves the overall remap cache hit rate, further boosting the performance. Trimma is transparent to software and compatible with various types of hybrid memory systems. When evaluated on a representative DDR4 + NVM hybrid memory system, Trimma achieves up to 2.4× and on average 58.1% speedup benefits, compared with a state-of-the-art design that only leverages the unallocated fast memory space for caching. Trimma addresses metadata management overheads and targets future scalable large-scale hybrid memory architectures.

Keywords: memory system, data cache, hybrid memory, non-volatile memory

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Authors: Maha Ali Al-Mohaya, Lubna Majed Al-Otaibi, Ebtissam Nassir Al-Bakr, Abdulrahman Al-Asmari

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Objectives: Oral lichen planus (OLP) is a chronic inflammatory oral mucosal disease. Cytokines play an important role in the pathogenesis and disease progression of OLP. The purpose of this study was to investigate the association of tumor necrosis factor (TNF)-α, TNF-β and interleukin (IL)-10 gene polymorphisms with the OLP risk. Material and Methods: Forty-two unrelated patients with OLP and 211 healthy volunteers were genotyped for TNF-α (-308 G/A), TNF-β (+252A/G), IL-10 (-1082G/A), IL-10 (-819C/T), and IL-10 (-592C/A) polymorphisms. Results: The frequencies of allele A and genotype GA of TNF-α (-308G/A) were significantly higher while allele G and GG genotypes were lower in OLP patients as compared to the controls (P < 0.001). The frequency of GA genotype of TNF-β (+252A/G) was significantly higher in patients than in controls while the AA genotype was completely absent in OLP patients. These results indicated that allele A and genotype GA of TNF-α (-308G/A) as well as the GA genotype of TNF-β (+252A/G) polymorphisms are associated with OLP risk. The frequencies of alleles and genotypes of -1082G/A, -819C/T and -592C/A polymorphisms in IL-10 gene did not differ significantly between OLP patients and controls (P > 0.05). However, haplotype ATA extracted from 1082G/A, -819C/T, -592C/A polymorphisms of IL-10 were more prevalent in OLP patients when compared to controls indicating its possible association with OLP susceptibility. Conclusion: It is concluded that TNF-α (-308G/A), TNF-β (+252A/G) and IL-10 (-1082G/A, -819C/T and -592C/A) polymorphisms are associated with the susceptibility of OLP, thus giving additional support for the genetic basis of this disease. Further studies are required using a larger sample size to confirm this association and determine the prognostic values of these findings.

Keywords: oral lichen planus, cytokines, polymorphism, genetic

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Authors: Peloriadi Konstantina, Fakis Dimitris, Grammelis Panagiotis

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Methods for carbon capture and storage (CCS) can play a key role in the reduction of industrial CO₂ emissions, especially in the cement industry, which accounts for 7% of global emissions. Cement industries around the world have committed to address this problem by reaching carbon neutrality by the year 2050. The aim of the work to be presented was to contribute to the decarbonization strategy by integrating the 1st generation oxyfuel technology in cement production plants. This technology has been shown to improve fuel efficiency while providing one of the most cost-effective solutions when compared to other capture methods. A validated simulation of the cement plant was thus used as a basis to develop an oxyfuel retrofitted cement process. The process model for the oxyfuel technology is developed on the ASPEN (Advanced System for Process Engineering) PLUSTM simulation software. This process consists of an Air Separation Unit (ASU), an oxyfuel cement plant with coal and alternative solid fuel (ASF) as feedstock, and a carbon dioxide processing unit (CPU). A detailed description and analysis of the CPU will be presented, including the findings of a literature review and simulation results, regarding the effects of flue gas impurities during operation. Acknowledgment: This research has been conducted in the framework of the EU funded AC2OCEM project, which investigates first and the second generation oxyfuel concepts.

Keywords: oxyfuel technology, carbon capture and storage, CO₂ processing unit, cement, aspen plus

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Authors: Jia-Shiun Chen, Hsiu-Ying Hwang

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Hybrid electric vehicles can reduce pollution and improve fuel economy. Power-split hybrid electric vehicles (HEVs) provide two power paths between the internal combustion engine (ICE) and energy storage system (ESS) through the gears of an electrically variable transmission (EVT). EVT allows ICE to operate independently from vehicle speed all the time. Therefore, the ICE can operate in the efficient region of its characteristic brake specific fuel consumption (BSFC) map. The two-mode powertrain can operate in input-split or compound-split EVT modes and in four different fixed gear configurations. Power-split architecture is advantageous because it combines conventional series and parallel power paths. This research focuses on input-split and compound-split modes in the two-mode power-split powertrain. Fuzzy Logic Control (FLC) for an internal combustion engine (ICE) and PI control for electric machines (EMs) are derived for the urban driving cycle simulation. These control algorithms reduce vehicle fuel consumption and improve ICE efficiency while maintaining the state of charge (SOC) of the energy storage system in an efficient range.

Keywords: hybrid electric vehicle, fuel economy, two-mode hybrid, fuzzy control

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Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Dulal Bhaumik, Fei Jie, Runa Bhaumik, Bikas Sinha

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Human brain is an amazingly complex network. Aberrant activities in this network can lead to various neurological disorders such as multiple sclerosis, Parkinson’s disease, Alzheimer’s disease and autism. fMRI has emerged as an important tool to delineate the neural networks affected by such diseases, particularly autism. In this paper, we propose mixed-effects models together with an appropriate procedure for controlling false discoveries to detect disrupted connectivities in whole brain studies. Results are illustrated with a large data set known as Autism Brain Imaging Data Exchange or ABIDE which includes 361 subjects from 8 medical centers. We believe that our findings have addressed adequately the small sample inference problem, and thus are more reliable for therapeutic target for intervention. In addition, our result can be used for early detection of subjects who are at high risk of developing neurological disorders.

Keywords: ABIDE, autism spectrum disorder, fMRI, mixed-effects model

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Authors: Anthara Vivek, Manisha Shukla, Mahesh Narayan, Prakash Narayan

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Sickle cell disease disproportionately affects sub-Saharan Africa and certain tribal populaces in India and has consequently drawn little intertest from Pharma. In sickle cell patients, adhesion of erythrocytes or reticulocytes to one another and the vessel wall results in painful ischemic episodes with few, if any, effective treatments for vaso-occlusive crises. Identification of disease-associated adhesion markers on erythrocytes or reticulocytes might inform the use of more effective therapies against vaso-occlusive crises. Increased expression of one or more of bcam, itga4, cd44, cd47, rap1a, vcam1, or icam4 has been reported in sickle cell subjects. Using the miRNet ontology knowledgebase, peripheral blood interactomes were generated by seeding various combinations of the afore-referenced mRNA. These interactomes yielded an array of miR targets. As examples, targeting hsa-miR-155-5p can potentially neutralize the rap1a-bcam-cd44-itga4-vcam1 erythrocyte/reticulocyte adhesion interactome whereas targeting hsa-miRs-103a-3p or 107 can potentially neutralize adhesion in cells overexpressing icam4-cd47-bcam-itga4-cd36. AM3380 (MIRacle™) is an off-the shelf hsa-miR-155-5p agomiR that can potentially neutralize the rap1a-bcam-cd44-itga4-vcam1 signaling axis. Phlebotomy coupled with transcriptomics represents a potentially feasible and effective precision medicine strategy to mitigate vaso-occlusive crises in sickle cell patients.

Keywords: adhesion, interactome, precision, medicine

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Authors: K. H. Reeta, Bhavana Prasher, Mitali Mukerji, Dhwani Dholakia, Sangeeta Khanna, Archana Vats, Shivam Pandey, Sandeep Seth, Subir Kumar Maulik

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Introduction Research has demonstrated a connection between coronary artery disease (CAD) and genetics. We did a deep literature mining using both bioinformatics and manual efforts to identify the susceptible polymorphisms in coronary artery disease. Further, the study sought to validate these findings in an Asian population. Methodology In first phase, we used an automated pipeline which organizes and presents structured information on SNPs, Population and Diseases. The information was obtained by applying Natural Language Processing (NLP) techniques to approximately 28 million PubMed abstracts. To accomplish this, we utilized Python scripts to extract and curate disease-related data, filter out false positives, and categorize them into 24 hierarchical groups using named Entity Recognition (NER) algorithms. From the extensive research conducted, a total of 466 unique PubMed Identifiers (PMIDs) and 694 Single Nucleotide Polymorphisms (SNPs) related to coronary artery disease (CAD) were identified. To refine the selection process, a thorough manual examination of all the studies was carried out. Specifically, SNPs that demonstrated susceptibility to CAD and exhibited a positive Odds Ratio (OR) were selected, and a final pool of 324 SNPs was compiled. The next phase involved validating the identified SNPs in DNA samples of 96 CAD patients and 37 healthy controls from Indian population using Global Screening Array. ResultsThe results exhibited out of 324, only 108 SNPs were expressed, further 4 SNPs showed significant difference of minor allele frequency in cases and controls. These were rs187238 of IL-18 gene, rs731236 of VDR gene, rs11556218 of IL16 gene and rs5882 of CETP gene. Prior researches have reported association of these SNPs with various pathways like endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms, and reduction of HDL-cholesterol levels, ultimately leading to the development of CAD. Among these, only rs731236 had been studied in Indian population and that too in diabetes and vitamin D deficiency. For the first time, these SNPs were reported to be associated with CAD in Indian population. Conclusion: This pool of 324 SNP s is a unique kind of resource that can help to uncover risk associations in CAD. Here, we validated in Indian population. Further, validation in different populations may offer valuable insights and contribute to the development of a screening tool and may help in enabling the implementation of primary prevention strategies targeted at the vulnerable population.

Keywords: coronary artery disease, single nucleotide polymorphism, susceptible SNP, bioinformatics

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Authors: Mahdi Farajzadeh Ajirlou

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The detailed serious adverse effects raised the stresses around the safety of individuals who have gotten COVID-19 vaccines. Numerous verification referrers that disease with COV-19 causes neurological dysfunction in a significant proportion of influenced patients, where these side effects show up seriously amid the disease, and still less is known approximately the potential long-term results for the brain, where the loss of olfaction could be a neurological sign and simple indications of COVID-19. Since publishing effective clinical trial results of mRNA coronavirus disease 2019 (COVID-19) and injecting it to the volunteers in 2020, numerous reports have emerged approximately about cardiovascular complications followed by the mRNA vaccination. Vaccination-associated adenopathy could be a constant imaging finding after the organization of COVID-19 antibodies that will lead to a symptomatic problem in patients with shown or suspected cancer, in whom it may be vague from dangerous nodal inclusion. In spite of all the benefits and viability of the coronavirus infection 2019 (COVID-19) antibodies specified in later clinical trials, a few other post-vaccination side impacts, such as lymphadenopathy (LAP), were observed. Also, numerous variables, including financial conditions, have played a critical part in expanding the number of people with COVID-19 infection and also much more side effects in that country. Amid the Coronavirus widespread, Iran has been experiencing extreme sanctions, which has faced this nation with an extreme financial crisis. Additionally, with COVID-19 widespread, there was a developing concern around the abuse of imaging exams extraordinarily within the pediatric populace, which highlights the issues pointed out by this review.

Keywords: radiology, vaccines, COVID-19, side effect

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Authors: Elvis Nyirenda

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This research study work was done to evaluate and propose an optimum measure to enhance the uptake of clean energy technologies such as solar photovoltaics, the study also aims at enhancing the country’s energy mix from the overdependence on hydro power which is susceptible to droughts and climate change challenges The country in the years 2015 - 2016 and 2018 - 2019 had received rainfall below average due to climate change and a shift in the weather pattern; this resulted in prolonged power outages and load shedding for more than 10 hours per day. ZESCO Limited, the utility company that owns infrastructure in the generation, transmission, and distribution of electricity (state-owned), is seeking alternative sources of energy in order to reduce the over-dependence on hydropower stations. One of the alternative sources of energy is Solar Energy from the sun. However, solar power is intermittent in nature and to smoothen the load curve, investment in robust energy storage facilities is of great importance to enhance security and reliability of electricity supply in the country. The methodology of the study looked at the historical performance of the Kafue gorge upper power station and utilised the hourly generation figures as input data for generation modelling in Homer software. The average yearly demand was derived from the available data on the system SCADA. The two dams were modelled as natural battery with the absolute state of charging and discharging determined by the available water resource and the peak electricity demand. The software Homer Energy System is used to simulate the scheme incorporating a pumped storage facility and Solar photovoltaic systems. The pumped hydro scheme works like a natural battery for the conservation of water, with the only losses being evaporation and water leakages from the dams and the turbines. To address the problem of intermittency on the solar resource and the non-availability of water for hydropower generation, the study concluded that utilising the existing Hydro power stations, Kafue Gorge upper and Kafue Gorge Lower to work conjunctively with Solar energy will reduce power deficits and increase the security of supply for the country. An optimum capacity of 350MW of solar PV can be integrated while operating Kafue Gorge power station in both generating and pumping mode to enable efficient utilisation of water at Kafue Gorge upper Dam and Kafue Gorge Lower dam.

Keywords: hydropower, solar power systems, energy storage, photovoltaics, solar irradiation, pumped hydro storage system, supervisory control and data acquisition, Homer energy

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Authors: Tahir Majeed, Michael Handschuh, René Meier

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Rheumatoid arthritis patients have swelling and pain at the joints of the hand. The regions where the patient feels pain also show increased body temperature. Thermal cameras can be used to detect the rise in temperature of the affected regions. To monitor the disease progression of rheumatoid arthritis patients, they must visit the clinic regularly for scanning and examination. After scanning and evaluation, the dosage of the medicine is regulated accordingly. To monitor the disease progression over time, the correlation between the images between different visits must be established. It has been observed that by using low-cost thermal cameras, the thermal measurements do not remain the same over time, even within a single scanning. In some situations, temperatures can vary as much as 2°C within the same scanning sequence. In this paper, it has been shown that although the absolute temperature varies over time, the relative difference between the different regions remains similar. Results have been computed over four scanning sequences and are presented.

Keywords: relative thermal difference, rheumatoid arthritis, thermal imaging, thermal sensors

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Authors: Salam N. Abdo, Orien L. Tulp, George P. Einstein

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The purpose of this exploratory study was to gather the insights into psoriasis etiology, treatment, and patient experience, for developing psoriasis and psoriatic arthritis diagnostic test. Data collection methods consisted of a comprehensive meta-analysis of relevant studies and psoriasis patient survey. Established meta-analysis guidelines were used for the selection and qualitative comparative analysis of psoriasis and psoriatic arthritis research studies. Only studies that clearly discussed psoriasis etiology, treatment, and patient experience were reviewed and analyzed, to establish a qualitative data base for the study. Using the insights gained from meta-analysis, an existing psoriasis patient survey was modified and administered to collect additional data as well as triangulate the results. The hypothesis is that specific types of psoriatic disease have specific etiology and pathophysiologic pattern. The following etiology categories were identified: bacterial, environmental/microbial, genetic, immune, infectious, trauma/stress, and viral. Additional results, obtained from meta-analysis and confirmed by patient survey, were the common age of onset (early to mid-20s) and type of psoriasis (plaque; mild; symmetrical; scalp, chest, and extremities, specifically elbows and knees). Almost 70% of patients reported no prescription drug use due to severe side effects and prohibitive cost. These results will guide the development of psoriasis and psoriatic arthritis diagnostic test. The significant number of medical publications classified psoriatic arthritis disease as inflammatory of an unknown etiology. Thus numerous meta-analyses struggle to report any meaningful conclusions since no definitive results have been reported to date. Therefore, return to the basics is an essential step to any future meaningful results. To date, medical literature supports the fact that psoriatic disease in its current classification could be misidentifying subcategories, which in turn hinders the success of studies conducted to date. Moreover, there has been an enormous commercial support to pursue various immune-modulation therapies, thus following a narrow hypothesis/mechanism of action that is yet to yield resolution of disease state. Recurrence and complications may be considered unacceptable in a significant number of these studies. The aim of the ongoing study is to focus on a narrow subgroup of patient population, as identified by this exploratory study via meta-analysis and patient survey, and conduct an exhaustive work up, aiming at mechanism of action and causality before proposing a cure or therapeutic modality. Remission in psoriasis has been achieved and documented in medical literature, such as immune-modulation, phototherapy, various over-the-counter agents, including salts and tar. However, there is no psoriasis and psoriatic arthritis diagnostic test to date, to guide the diagnosis and treatment of this debilitating and, thus far, incurable disease. Because psoriasis affects approximately 2% of population, the results of this study may affect the treatment and improve the quality of life of a significant number of psoriasis patients, potentially millions of patients in the United States alone and many more millions worldwide.

Keywords: biologics, early diagnosis, etiology, immune disease, immune modulation therapy, inflammation skin disorder, phototherapy, plaque psoriasis, psoriasis, psoriasis classification, psoriasis disease marker, psoriasis diagnostic test, psoriasis marker, psoriasis mechanism of action, psoriasis treatment, psoriatic arthritis, psoriatic disease, psoriatic disease marker, psoriatic patient experience, psoriatic patient quality of life, remission, salt therapy, targeted immune therapy

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Authors: Manik Sharma

Abstract:

Understanding the anatomy and normal anatomical variations of the lower limb arterial system is undeniably important not only to understand the pathology involving the vessels of the lower limb but also as a part of endovascular intervention and surgical planning in cases that demand them as a part of treatment. There have been very few cases of duplication of SFA cited in the literature, close to six worldwide and this being the seventh case in the world and first to be reported in the Indian population. We incidentally came across this normal variant during US lower limb (US-LL) duplex scan in a patient with claudicating pain in bilateral lower limbs hence suspected of having peripheral vascular disease. It was confirmed on CT-Peripheral Angiography (CT-PA), which was done successively.

Keywords: peripheral vascular disease, claudicating pain, normal anatomical variants, endovascular intervention, duplication, CT-peripheral angiography, duplex scan, Iohexol

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Authors: Simon B. N. Thompson

Abstract:

Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

Procedia PDF Downloads 376

Authors: James Boag

Abstract:

The needs of people with a diagnosis of dementia and their carers and families are physical, psychosocial, and psychological and begin at the time of diagnosis. There is frequently a lack of emotional support and counselling. Care- giving support is required from the presentation of the first symptoms of dementia until death. Alzheimer's disease begins decades before the clinical symptoms begin to appear, and in many cases, it remains undiagnosed, or diagnosed too late for any possible interventions to have any effect. However, if an incorrect diagnosis is given, it may result in a person being treated, without effect, for a type of dementia they do not have and delaying the interventions they should have received. Being diagnosed with dementia can cause emotional distress to the person, and physical and emotional support is needed, which will become more important as the disease progresses. The severity of the patient's dementia and their symptoms has a bearing of the impact on the carer and the support needed. A lack of insight and /or a denial of the diagnosis, grief, reacting to anticipated future losses, and coping methods to maximise the disease outcome, are things that should be addressed. Because of the stigma, it is important for carers not to lose contact with family and others because social isolation leads to depression and burnout. The impact on a carer's well- being and quality of life can be influenced by the severity of the illness, its type of dementia, its symptoms, healthcare support, financial and social status, career, age, health, residential setting, and relationship to the patient. Carer burnout due to lack of support leads to people diagnosed with dementia being put into residential care prematurely. Often dementia is not recognised as a terminal illness, limiting the ability of the person diagnosed with dementia and their carers to work on advance care planning and getting access to palliative and other support. Many carers have been satisfied with the physical support they were given in their everyday life, however, it was agreed that there was an immense unmet need for psychosocial support, especially after diagnosis and approaching end of life. Providing continuity and coordination of care is important. Training is necessary for providers to understand that every case is different, and they should understand the complexities. Grief, the emotional response to loss, is suffered during the progression of the disease and long afterwards, and carers should continue to be supported after the death of the person they were caring for.

Keywords: dementia, caring, challenges, needs

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Authors: Y. I. Tretyakova, S. G. Shulkina, T. Y. Kravtsova, A. A. Antipova, N. Y. Kolomeets

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The research aimed to assess the functional significance of tumor necrosis factor-alpha (TNF-α) gene polymorphism at the -308G/A (rs1800629) region and vascular endothelial growth factor A (VEGFA) gene polymorphism at the -634G/C (rs 2010963) region in the development of ulcerative colitis (UC), focusing on patients from the Perm region, Russia. We examined 70 UC patients and 50 healthy donors during the active phase of the disease. Our focus was on TNF-α and VEGF concentration in the blood serum, as well as TNF-α and VEGFA gene polymorphisms at the -308G/А and -634G/C regions, respectively. We found that TNF-α and VEGF levels were significantly higher in patients with severe UC and high endoscopic activity compared to those with milder forms of the disease and low endoscopic activity. These tests could serve as additional non-invasive markers for assessing mucosal damage in the large intestine of UC patients. The frequency of allele variations in the TNF-α gene -308G/A (rs1800629) revealed a significantly higher occurrence of the unfavorable homozygote AA in UC patients compared to donors. Additionally, the major allele G and the allele pair GG were more frequent in patients with mild to moderate disease and 1-2 degree of endoscopic activity than in those with severe UC and 3-4 degree of endoscopic activity (χ2=14.19; p=0.000). We also observed a mutant allele A and the unfavorable homozygote AA associated with severe progressive UC. The occurrence of the mutant allele increased the risk of severe UC by 5 times (OR 5.03; CI 12.07-12.21). We did not find any significant differences in the frequency of the CC homozygote (χ2=1.02; p=0.6; OR=1.32) and the mutant allele C of the VEGFA gene -634G/C (rs 2010963) (χ2=0.01; p=0.913; OR=0.97) between groups of UC patients and healthy individuals. However, we detected that the mutant allele C and the unfavorable homozygote CC of the VEGFA gene were associated with more severe endoscopic changes in the colonic mucosa of UC patients (χ2=25,76; р=0,000; OR=0,15). The presence of the mutant allele increased the risk of severe UC by 6 times (OR 6,78; CI 3,13–14,7). We found a direct correlation between TNF-α and VEGFA gene polymorphisms, increased production of the same factors, disease severity, and endoscopic activity (р=0.000). Therefore, the presence of the mutant allele A and homozygote AA of the TNF-α gene at the -308G/A region and the mutant allele C and homozygote CC of the VEGFA gene at the -634G/C region are associated with risks related to an unfavorable clinical course of UC, frequent recurrences, and rapid progression. These findings should be considered when making prognoses regarding the clinical course of the disease and selecting treatment strategies. The presence of the homozygote AA in the TNF-α gene (rs1800629) is considered a sign of genetic predisposition to UC.

Keywords: gene polymorphism, TNF-α, ulcerative colitis, VEGF

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Authors: Moushira Zaki, Wafaa Ezzat, Yasser Elhosary, Omnia Saleh

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Nonalcoholic fatty liver disease (NAFLD) has increased in conjunction with obesity. The accuracy of risk factors for detecting NAFLD in obese adolescents has not undergone a formal evaluation. The aim of this study was to evaluate predictors of NAFLD among Egyptian female obese adolescents. The study included 162 obese female adolescents. All were subjected to anthropometry, biochemical analysis and abdominal ultrasongraphic assessment. Metabolic syndrome (MS) was diagnosed according to the IDF criteria. Significant association between presence of MS and NAFLD was observed. Obese adolescents with NAFLD had significantly higher levels of ALT, triglycerides, fasting glucose, insulin, blood pressure and HOMA-IR, whereas decreased HDL-C levels as compared with obese cases without NAFLD. Receiver–operating characteristic (ROC) curve analysis shows that ALT is a sensitive predictor for NAFLD, confirming that ALT can be used as a marker of NAFLD.

Keywords: obesity, NAFLD, predictors, adolescents, Egyptians, risk factors, prevalence

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Authors: Hitoshi Minakuchi, Izumi Takei, Shu Wakino, Koichi Hayashi, Hiroshi Itoh

Abstract:

Objectives: Among type 2 diabetics, patients with CKD(chronic kidney disease), insulin resistance, impaired glyconeogenesis in kidney and reduced degradation of insulin are recognized, and we observed different fluctuational patterns of blood sugar between CKD patients and non-CKD patients. On the other hand, non-dipper type blood pressure change is the risk of organ damage and mortality. We performed cross-sectional study to elucidate the characteristic of the fluctuation of blood glucose and blood pressure at insulin-treated diabetic patients with chronic kidney disease. Methods: From March 2011 to April 2013, at the Ichikawa General Hospital of Tokyo Dental College, we recruited 20 outpatients. All participants are insulin-treated type 2 diabetes with CKD. We collected serum samples, urine samples for several hormone measurements, and performed CGMS(Continuous glucose measurement system), ABPM (ambulatory blood pressure monitoring), brain computed tomography, carotid artery thickness, ankle brachial index, PWV, CVR-R, and analyzed these data statistically. Results: Among all 20 participants, hypoglycemia was decided blood glucose 70mg/dl by CGMS of 9 participants (45.0%). The event of hypoglycemia was recognized lower eGFR (29.8±6.2ml/min：41.3±8.5ml/min, P<0.05), lower HbA1c (6.44±0.57%：7.53±0.49%), higher PWV (1858±97.3cm/s：1665±109.2cm/s), higher serum glucagon (194.2±34.8pg/ml：117.0±37.1pg/ml), higher free cortisol of urine (53.8±12.8μg/day：34.8±7.1μg/day), and higher metanephrin of urine (0.162±0.031mg/day：0.076±0.029mg/day). Non-dipper type blood pressure change in ABPM was detected 8 among 9 participants with hypoglycemia (88.9%), 4 among 11 participants (36.4%) without hypoglycemia. Multiplex logistic-regression analysis revealed that the event of hypoglycemia is the independent factor of non-dipper type blood pressure change. Conclusions: Among insulin-treated type 2 diabetic patients with CKD, the events of hypoglycemia were frequently detected, and can associate with the organ derangements through the medium of non-dipper type blood pressure change.

Keywords: chronic kidney disease, hypoglycemia, non-dipper type blood pressure change, diabetic patients

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Authors: Sima Aznavi, Poria Fajri, Hanif Livani

Abstract:

Smart homes are small energy systems which may be equipped with renewable energy sources, storage devices, and loads. Energy management strategy plays a main role in the efficient operation of smart homes. Effective energy scheduling of the renewable energy sources and storage devices guarantees efficient energy management in households while reducing the energy imports from the grid. Nevertheless, despite such strategies, independently day ahead energy schedules for multiple households can cause undesired effects such as high power exchange with the grid at certain times of the day. Therefore, the interactions between multiple smart home day ahead energy projections is a challenging issue in a smart grid system and if not managed appropriately, the imported energy from the power network can impose additional burden on the distribution grid. In this paper, a central energy management strategy for a network consisting of multiple households each equipped with renewable energy sources, storage devices, and Plug-in Electric Vehicles (PEV) is proposed. The decision-making strategy alongside the smart home energy management system, minimizes the energy purchase cost of the end users, while at the same time reducing the stress on the utility grid. In this approach, the smart home energy management system determines different operating scenarios based on the forecasted household daily load and the components connected to the household with the objective of minimizing the end user overall cost. Then, selected projections for each household that are within the same cost range are sent to the central decision-making system. The central controller then organizes the schedules to reduce the overall peak to average ratio of the total imported energy from the grid. To validate this approach simulations are carried out for a network of five smart homes with different load requirements and the results confirm that by applying the proposed central energy management strategy, the overall power demand from the grid can be significantly flattened. This is an effective approach to alleviate the stress on the network by distributing its energy to a network of multiple households over a 24- hour period.

Keywords: energy management, renewable energy sources, smart grid, smart home

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