Search results for: self-adaptive genetic algorithms

Authors: Salma A. Mahmoud

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Epigenetic, or alteration in gene expression influenced by extragenetic factors, has emerged as one of the most promising areas that will address some of the gaps in our current knowledge in understanding patterns of human variation. In the last decade, the research investigating epigenetic mechanisms in many fields has flourished and witnessed significant progress. It paved the way for a new era of integrated research especially between anthropology/archeology and life sciences. Skeletal remains are considered the most significant source of information for studying human variations across history, and by utilizing these valuable remains, we can interpret the past events, cultures and populations. In addition to archeological, historical and anthropological importance, studying bones has great implications in other fields such as medicine and science. Bones also can hold within them the secrets of the future as they can act as predictive tools for health, society characteristics and dietary requirements. Bones in their basic forms are composed of cells (osteocytes) that are affected by both genetic and environmental factors, which can only explain a small part of their variability. The primary objective of this project is to examine the epigenetic landscape/signature within bones of archeological remains as a novel marker that could reveal new ways to conceptualize chronological events, gender differences, social status and ecological variations. We attempted here to address discrepancies in common variants such as methylome as well as novel epigenetic regulators such as chromatin remodelers, which to our best knowledge have not yet been investigated by anthropologists/ paleoepigenetists using plethora of techniques (biological, computational, and statistical). Moreover, extracting epigenetic information from bones will highlight the importance of osseous material as a vector to study human beings in several contexts (social, cultural and environmental), and strengthen their essential role as model systems that can be used to investigate and construct various cultural, political and economic events. We also address all steps required to plan and conduct an epigenetic analysis from bone materials (modern and ancient) as well as discussing the key challenges facing researchers aiming to investigate this field. In conclusion, this project will serve as a primer for bioarcheologists/anthropologists and human biologists interested in incorporating epigenetic data into their research programs. Understanding the roles of epigenetic mechanisms in bone structure and function will be very helpful for a better comprehension of their biology and highlighting their essentiality as interdisciplinary vectors and a key material in archeological research.

Keywords: epigenetics, archeology, bones, chromatin, methylome

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Authors: Thomai Voulgari, Vasilis Vasilopoulos, Antonis Skamnakis

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The aim of this study is to investigate the effect of the European election campaigns (May 23-26, 2019) on Twitter achieving with artificial intelligence tools such as troll factories and automated inauthentic accounts. Our research focuses on the last European Parliamentary elections that took place between 23 and 26 May 2019 specifically in Italy, Greece, Germany and France. It is difficult to estimate how many Twitter users are actually bots (Echeverría, 2017). Detection for fake accounts is becoming even more complicated as AI bots are made more advanced. A political bot can be programmed to post comments on a Twitter account for a political candidate, target journalists with manipulated content or engage with politicians and artificially increase their impact and popularity. We analyze variables related to 1) the scope of activity of automated bots accounts and 2) degree of coherence and 3) degree of interaction taking into account different factors, such as the type of content of Twitter messages and their intentions, as well as the spreading to the general public. For this purpose, we collected large volumes of Twitter accounts of party leaders and MEP candidates between 10th of May and 26th of July based on content analysis of tweets based on hashtags while using an innovative network analysis tool known as MediaWatch.io (https://mediawatch.io/). According to our findings, one of the highest percentage (64.6%) of automated “bot” accounts during 2019 European election campaigns was in Greece. In general terms, political bots aim to proliferation of misinformation on social media. Targeting voters is a way that it can be achieved contribute to social media manipulation. We found that political parties and individual politicians create and promote purposeful content on Twitter using algorithmic tools. Based on this analysis, online political advertising play an important role to the process of spreading misinformation during elections campaigns. Overall, inauthentic accounts and social media algorithms are being used to manipulate political behavior and public opinion.

Keywords: artificial intelligence tools, human-bot interactions, political manipulation, social networking, troll factories

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Authors: Sneha Shankar, Orlando Buendia, Will Evans

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Alpha-1 antitrypsin deficiency (AATD) is a rare, genetic, and multisystemic condition. Underdiagnosis is common, leading to chronic pulmonary and hepatic complications, increased resource utilization, and additional costs to the healthcare system. Currently, there is limited evidence of the direct medical costs of AATD diagnosis in the UK. This study explores the economic impact of AATD patients during the 3 years before diagnosis and to identify the major cost drivers using primary and secondary care electronic health record (EHR) data. The 3 years before diagnosis time period was chosen based on the ability of our tool to identify patients earlier. The AATD algorithm was created using published disease criteria and applied to 148 known AATD patients’ EHR found in a primary care database of 936,148 patients (413,674 Biobank and 501,188 in a single primary care locality). Among 148 patients, 9 patients were flagged earlier by the tool and, on average, could save 3 (1-6) years per patient. We analysed 101 of the 148 AATD patients’ primary care journey and 20 patients’ Hospital Episode Statistics (HES) data, all of whom had at least 3 years of clinical history in their records before diagnosis. The codes related to laboratory tests, clinical visits, referrals, hospitalization days, day case, and inpatient admissions attributable to AATD were examined in this 3-year period before diagnosis. The average cost per patient was calculated, and the direct medical costs were modelled based on the mean prevalence of 100 AATD patients in a 500,000 population. A deterministic sensitivity analysis (DSA) of 20% was performed to determine the major cost drivers. Cost data was obtained from the NHS National tariff 2020/21, National Schedule of NHS Costs 2018/19, PSSRU 2018/19, and private care tariff. The total direct medical cost of one hundred AATD patients three years before diagnosis in primary and secondary care in the UK was £3,556,489, with an average direct cost per patient of £35,565. A vast majority of this total direct cost (95%) was associated with inpatient admissions (£3,378,229). The DSA determined that the costs associated with tier-2 laboratory tests and inpatient admissions were the greatest contributors to direct costs in primary and secondary care, respectively. This retrospective study shows the role of EHRs in calculating direct medical costs and the potential benefit of new technologies for the early identification of patients with AATD to reduce the economic burden in primary and secondary care in the UK.

Keywords: alpha-1 antitrypsin deficiency, costs, digital health, early diagnosis

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Authors: Lou J. Pino, Mark Campbell, Matthew J. Kennedy, Ashleigh C. Kennedy

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A concussion is complex and nuanced, with cognitive rest being a key component of recovery. Cognitive overexertion during rehabilitation from a concussion is associated with delayed recovery. However, daily living imposes cognitive demands that may be unavoidable and difficult to quantify. Therefore, a portable tool capable of alerting patients before cognitive overexertion occurs could allow patients to maintain their quality of life while preventing symptoms and recovery setbacks. EEG allows for a sensitive measure of cognitive exertion. Clinical 32-lead EEG headsets are not practical for day-to-day concussion rehabilitation management. However, there are now commercially available and affordable portable EEG headsets. Thus, these headsets can potentially be used to continuously monitor cognitive exertion during mental tasks to alert the wearer of overexertion, with the aim of preventing the occurrence of symptoms to speed recovery times. The objective of this study was to test an algorithm for predicting cognitive exertion from EEG data collected from a portable headset. EEG data were acquired from 10 participants (5 males, 5 females). Each participant wore a portable 4 channel EEG headband while completing 10 tasks: rest (eyes closed), rest (eyes open), three levels of the increasing difficulty of logic puzzles, three levels of increasing difficulty in multiplication questions, rest (eyes open), and rest (eyes closed). After each task, the participant was asked to report their perceived level of cognitive exertion using the NASA Task Load Index (TLX). Each participant then completed a second session on a different day. A customized machine learning model was created using data from the first session. The performance of each model was then tested using data from the second session. The mean correlation coefficient between TLX scores and predicted cognitive exertion was 0.75 ± 0.16. The results support the efficacy of the algorithm for predicting cognitive exertion. This demonstrates that the algorithms developed in this study used with portable EEG devices have the potential to aid in the concussion recovery process by monitoring and warning patients of cognitive overexertion. Preventing cognitive overexertion during recovery may reduce the number of symptoms a patient experiences and may help speed the recovery process.

Keywords: cognitive activity, EEG, machine learning, personalized recovery

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Authors: Danna Jia, Bin Li

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Background: Atopic dermatitis (AD) is a chronic and refractory inflammatory skin disease characterized by relapsing eczematous and pruritic skin lesions. The global prevalence of AD ranges from 1~ 20%, and its incidence rates are increasing. It affects individuals from infancy to adulthood, significantly impacting their daily lives and social activities. Despite its major health burden, the precise mechanisms underlying AD remain unknown. Understanding the genetic differences associated with AD is crucial for advancing diagnosis and targeted treatment development. This study aims to identify candidate genes of AD by using bioinformatics analysis. Methods: We conducted a comprehensive analysis of four pooled transcriptomic datasets (GSE16161, GSE32924, GSE130588, and GSE120721) obtained from the Gene Expression Omnibus (GEO) database. Differential gene expression analysis was performed using the R statistical language. The differentially expressed genes (DEGs) between AD patients and normal individuals were functionally analyzed using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. Furthermore, a protein-protein interaction (PPI) network was constructed to identify candidate genes. Results: Among the patient-level gene expression datasets, we identified 114 shared DEGs, consisting of 53 upregulated genes and 61 downregulated genes. Functional analysis using GO and KEGG revealed that the DEGs were mainly associated with the negative regulation of transcription from RNA polymerase II promoter, membrane-related functions, protein binding, and the Human papillomavirus infection pathway. Through the PPI network analysis, we identified eight core genes: CD44, STAT1, HMMR, AURKA, MKI67, and SMARCA4. Conclusion: This study elucidates key genes associated with AD, providing potential targets for diagnosis and treatment. The identified genes have the potential to contribute to the understanding and management of AD. The bioinformatics analysis conducted in this study offers new insights and directions for further research on AD. Future studies can focus on validating the functional roles of these genes and exploring their therapeutic potential in AD. While these findings will require further verification as achieved with experiments involving in vivo and in vitro models, these results provided some initial insights into dysfunctional inflammatory and immune responses associated with AD. Such information offers the potential to develop novel therapeutic targets for use in preventing and treating AD.

Keywords: atopic dermatitis, bioinformatics, biomarkers, genes

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Authors: Mehrnoosh Abouzari, Shahrokh Sahraei

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Today, with the increase in quantity and quality and variety of crimes, the discussion of crime prevention has faced a serious challenge that human resources alone and with traditional methods will not be effective. One of the developments in the modern world is the presence of artificial intelligence in various fields, including criminal law. In fact, the use of artificial intelligence in criminal investigations and fighting crime is a necessity in today's world. The use of artificial intelligence is far beyond and even separate from other technologies in the struggle against crime. Second, its application in criminal science is different from the discussion of prevention and it comes to the prediction of crime. Crime prevention in terms of the three factors of the offender, the offender and the victim, following a change in the conditions of the three factors, based on the perception of the criminal being wise, and therefore increasing the cost and risk of crime for him in order to desist from delinquency or to make the victim aware of self-care and possibility of exposing him to danger or making it difficult to commit crimes. While the presence of artificial intelligence in the field of combating crime and social damage and dangers, like an all-seeing eye, regardless of time and place, it sees the future and predicts the occurrence of a possible crime, thus prevent the occurrence of crimes. The purpose of this article is to collect and analyze the studies conducted on the use of artificial intelligence in predicting and preventing crime. How capable is this technology in predicting crime and preventing it? The results have shown that the artificial intelligence technologies in use are capable of predicting and preventing crime and can find patterns in the data set. find large ones in a much more efficient way than humans. In crime prediction and prevention, the term artificial intelligence can be used to refer to the increasing use of technologies that apply algorithms to large sets of data to assist or replace police. The use of artificial intelligence in our debate is in predicting and preventing crime, including predicting the time and place of future criminal activities, effective identification of patterns and accurate prediction of future behavior through data mining, machine learning and deep learning, and data analysis, and also the use of neural networks. Because the knowledge of criminologists can provide insight into risk factors for criminal behavior, among other issues, computer scientists can match this knowledge with the datasets that artificial intelligence uses to inform them.

Keywords: artificial intelligence, criminology, crime, prevention, prediction

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Authors: Srinivas Bathini, Duraichelvan Raju, Simona Badilescu, Muthukumaran Packirisamy

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A bio-sensing method, based on the plasmonic property of gold nano-islands, has been developed for detection of exosomes in a clinical setting. The position of the gold plasmon band in the UV-Visible spectrum depends on the size and shape of gold nanoparticles as well as on the surrounding environment. By adsorbing various chemical entities, or binding them, the gold plasmon band will shift toward longer wavelengths and the shift is proportional to the concentration. Exosomes transport cargoes of molecules and genetic materials to proximal and distal cells. Presently, the standard method for their isolation and quantification from body fluids is by ultracentrifugation, not a practical method to be implemented in a clinical setting. Thus, a versatile and cutting-edge platform is required to selectively detect and isolate exosomes for further analysis at clinical level. The new sensing protocol, instead of antibodies, makes use of a specially synthesized polypeptide (Vn96), to capture and quantify the exosomes from different media, by binding the heat shock proteins from exosomes. The protocol has been established and optimized by using a glass substrate, in order to facilitate the next stage, namely the transfer of the protocol to a microfluidic environment. After each step of the protocol, the UV-Vis spectrum was recorded and the position of gold Localized Surface Plasmon Resonance (LSPR) band was measured. The sensing process was modelled, taking into account the characteristics of the nano-island structure, prepared by thermal convection and annealing. The optimal molar ratios of the most important chemical entities, involved in the detection of exosomes were calculated as well. Indeed, it was found that the results of the sensing process depend on the two major steps: the molar ratios of streptavidin to biotin-PEG-Vn96 and, the final step, the capture of exosomes by the biotin-PEG-Vn96 complex. The microfluidic device designed for sensing of exosomes consists of a glass substrate, sealed by a PDMS layer that contains the channel and a collecting chamber. In the device, the solutions of linker, cross-linker, etc., are pumped over the gold nano-islands and an Ocean Optics spectrometer is used to measure the position of the Au plasmon band at each step of the sensing. The experiments have shown that the shift of the Au LSPR band is proportional to the concentration of exosomes and, thereby, exosomes can be accurately quantified. An important advantage of the method is the ability to discriminate between exosomes having different origins.

Keywords: exosomes, gold nano-islands, microfluidics, plasmonic biosensing

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Authors: Yasir E. Mohieldeen

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Qatar is one of the most water scarce countries in the World. In 2014, the average per capita rainfall was less than 29 m3/y/ca, while the global average is 6,000 m3/y/ca. However, the per capita water consumption in Qatar is among the highest in the World: more than 500 liters per person per day, whereas the global average is 160 liters per person per day. Since the early 2000s, Qatar has been relying heavily on desalinated water from the Arabian Gulf as the main source of fresh water. In 2009, about 99.9% of the total potable water produced was desalinated. Reliance on desalinated water makes Qatar very vulnerable to water related natural disasters, such as the red-tide phenomenon. Qatar’s strategic water reserve lasts for only 7 days. In case of red-tide outbreak, the country would not be able to desalinate water for days, let alone the months that this disaster would bring about (as it clogs the desalination equipment). The 2008-09 red-tide outbreak, for instance, lasted for more than eight months and forced the closure of desalination plants in the region for weeks. This study aims at identifying favorite conditions for red-tide outbreaks, using satellite data along with in-situ measurements. This identification would allow the prediction of these outbreaks and their hotspots. Prediction and monitoring of outbreaks are crucial to water security in the country, as different measures could be put in place in advance to prevent an outbreak and mitigate its impact if it happened. Red-tide outbreaks are detected using different algorithms for chlorophyll concentration in the Gulf waters. Vegetation indices, such as Normalized Difference Vegetation Index (NDVI) and Enhanced Vegetation Index (EVI) were used along with Surface Algae Bloom Index (SABI) to detect known outbreaks. MODIS (or Moderate Resolution Imaging Spectroradiometer) bands are used to calculate these indices. A red-tide outbreaks atlas in the Arabian Gulf is being produced. Prediction of red-tide outbreaks ahead of their occurrences would give critical information on possible water-shortage in the country. Detecting known outbreaks in the past few decades and related parameters (e.g. water salinity, water surface temperature, nutrition, sandstorms, … etc) enables the identification of favorite conditions of red-tide outbreak that are key to the prediction of these outbreaks.

Keywords: Arabian Gulf, MODIS, red-tide detection, strategic water reserve, water desalination

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Authors: J. Jessa

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Background: Autism is a pervasive developmental disorder, the incidence of which has significantly increased in recent years. Children with autism have impairments in social skills, communication, and imagination. Children with autism has more common than healthy children feeding problems: food selectivity, problems with gastrointestinal tract: diarrhea, constipations, abdominal pain, reflux and others. Many parents of autistic children report that after implementation of gluten-, casein- and sugar free diet those symptoms disappear and even cognitive functions become better. Some children begin to understand speech and to communicate with parents, regain eye contact, become more calm, sleep better and has better concentration. Probably at the root of this phenomenon lies elimination from the diet peptides construction of which is similar to opiates. Enhanced permeability of gut causes absorption of not fully digested opioid-like peptides from food, like gluten and casein and probably others (proteins from soy and corn) which impact on brain of autistic children. Aim of the study: The aim of the study is to assess the safety of gluten-free diet in children with autism, aged 2,5-7. Methods: Participants of the study (n=70) – children aged 2,5-7 with autism are divided into 3 groups. The first group (research group) are patients whose parents want to implement a gluten-free diet. The second group are patients who have been recommended to eliminate from the diet artificial substances, such as preservatives, artificial colors and flavors, and others (control group 1). The third group (control group 2) are children whose parents did not agree for implementation of the diet. Caregivers of children on the diet are educated about the specifics of the diet and how to avoid malnutrition. At the start of the study we exclude celiac disease. Before the implementation of the diet we performe a blood test for patients (morphology, ferritin, total cholesterol, dry peripheral blood drops to detect some genetic metabolic diseases), plasma aminogram) and urine tests (excretion of ions: Mg, Na, Ca, the profile of organic acids in urine), which assess nutritional status as well as the psychological test assessing the degree of the child's psychological functioning (PEP-R). All of these tests will be repeated after one year from the implementation of the diet. Results: To the present moment we examined 42 children with autism. 12 of children are on gluten- free diet. Our preliminary results are promising. Parents of 9 of them report that, there is a big improvement in child behavior, concentration, less aggression incidents, better eye contact and better verbal skills. Conclusion: Our preliminary results suggest that dietary intervention may positively affect developmental outcome for some children diagnosed with ASD.

Keywords: gluten free diet, autism spectrum disorder, autism, blood test

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Authors: Gail Louw, Helena Boshoff, Taeksun Song, Clifton Barry

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Drug resistance in Mycobacterium tuberculosis is primarily attributed to mutations in target genes. These mutations incur a fitness cost and result in bacterial generations that are less fit, which subsequently acquire compensatory mutations to restore fitness. We hypothesize that mutations in specific drug target genes influence bacterial metabolism and cellular function, which affects its ability to develop subsequent resistance to additional agents. We aim to determine whether the sequential acquisition of drug resistance and specific mutations in a well-defined clinical M. tuberculosis strain promotes or limits the development of additional resistance. In vitro mutants resistant to pretomanid, linezolid, moxifloxacin, rifampicin and kanamycin were generated from a pan-susceptible clinical strain from the Beijing lineage. The resistant phenotypes to the anti-TB agents were confirmed by the broth microdilution assay and genetic mutations were identified by targeted gene sequencing. Growth of mono-resistant mutants was done in enriched medium for 14 days to assess in vitro fitness. Double resistant mutants were generated against anti-TB drug combinations at concentrations 5x and 10x the minimum inhibitory concentration. Subsequently, mutation frequencies for these anti-TB drugs in the different mono-resistant backgrounds were determined. The initial level of resistance and the mutation frequencies observed for the mono-resistant mutants were comparable to those previously reported. Targeted gene sequencing revealed the presence of known and clinically relevant mutations in the mutants resistant to linezolid, rifampicin, kanamycin and moxifloxacin. Significant growth defects were observed for mutants grown under in vitro conditions compared to the sensitive progenitor. Mutation frequencies determination in the mono-resistant mutants revealed a significant increase in mutation frequency against rifampicin and kanamycin, but a significant decrease in mutation frequency against linezolid and sutezolid. This suggests that these mono-resistant mutants are more prone to develop resistance to rifampicin and kanamycin, but less prone to develop resistance against linezolid and sutezolid. Even though kanamycin and linezolid both inhibit protein synthesis, these compounds target different subunits of the ribosome, thereby leading to different outcomes in terms of fitness in the mutants with impaired cellular function. These observations showed that oxazolidinone treatment is instrumental in limiting the development of multi-drug resistance in M. tuberculosis in vitro.

Keywords: oxazolidinones, mutations, resistance, tuberculosis

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Authors: Sonia Tamanna, Akramul Hassan, Mohammad Shakil Mahmood, Farzana Ansari, Gowhar Rashid, Mir Fahim Faisal, M. Zakir Hossain Howlader

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Background: Preeclampsia (PE), a pregnancy-specific hypertensive disorder, significantly impacts maternal and fetal health. It is particularly prevalent in underdeveloped countries and is linked to preterm delivery and fetal growth. The renin-angiotensin system (RAS) plays a crucial role in ensuring a successful pregnancy outcome, with Angiotensin-Converting Enzyme 2 (ACE2) being a key component. ACE2 converts ANG II to Ang-(1-7), offering protection against ANG II-induced stress and inflammation while regulating blood pressure and osmotic balance during pregnancy. The reduced maternal plasma angiotensin-converting enzyme 2 (ACE2) seen in preeclampsia might contribute to its pathogenesis. However, there has been a dearth of comprehensive research into the association between ACE2 gene polymorphism and preeclampsia. In the South Asian population, hypertension is strongly linked to two SNPs: rs2285666 and rs879922. This genotype was therefore considered, and the possible association of maternal and fetal ACE2 gene polymorphism with preeclampsia within the Bangladeshi population was evaluated. Method: DNA was extracted from peripheral white blood cells (WBCs) using the organic method, and SNP genotyping was done via PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using logistic regression to determine relative risk. Result: A comprehensive case-control study was conducted on 51 PE patients and their infants, along with 56 control subjects and their infants. Maternal single nuvleotide polymorphisms (SNP) (rs2285666) analysis revealed a strong association between the TT genotype and preeclampsia, with a four-fold increased risk in mothers (P=0.024, OR=4.00, 95% CI=1.36-11.37) compared to their ancestral genotype CC. However, the CT genotype (rs2285666) showed no significant difference (P=0.46, OR=1.54, 95% CI=0.57-4.14). Notably, no significant correlation was found in infants, regardless of their gender. For rs879922, no significant association was observed in both mothers and infants. This pioneering study suggests that mothers carrying the ACE2 gene variant rs2285666 (TT allele) may be at higher risk for preeclampsia, potentially influencing hypertension characteristics, whereas rs879922 does not appear to be associated with developing preeclampsia. Conclusion: This study sheds light on the role of ACE2 gene polymorphism, particularly the rs2285666 TT allele, in maternal susceptibility to preeclampsia. However, rs879922 does not appear to be linked to the risk of PE. This research contributes to our understanding of the genetic underpinnings of preeclampsia, offering insights into potential avenues for prevention and management.

Keywords: ACE2, PCR-RFLP, preeclampsia, single nuvleotide polymorphisms (SNPs)

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Authors: Filip Rusak, Yulia Arzhaeva, Dadong Wang

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Machine learning based Computer-Aided Diagnosis (CAD) is gaining much popularity in medical imaging and diagnostic radiology. However, it requires a large amount of high quality and labeled training image datasets. The training images may come from different sources and be acquired from different radiography machines produced by different manufacturers, digital or digitized copies of film radiographs, with various sizes as well as different pixel intensity distributions. In this paper, a content-aware image augmentation method is presented to deal with these variations. The results of the proposed method have been validated graphically by plotting the removed and added seams of pixels on original images. Two different chest X-ray (CXR) datasets are used in the experiments. The CXRs in the datasets defer in size, some are digital CXRs while the others are digitized from analog CXR films. With the proposed content-aware augmentation method, the Seam Carving algorithm is employed to resize CXRs and the corresponding labels in the form of image masks, followed by histogram matching used to normalize the pixel intensities of digital radiography, based on the pixel intensity values of digitized radiographs. We implemented the algorithms, resized the well-known Montgomery dataset, to the size of the most frequently used Japanese Society of Radiological Technology (JSRT) dataset and normalized our digital CXRs for testing. This work resulted in the unified off-the-shelf CXR dataset composed of radiographs included in both, Montgomery and JSRT datasets. The experimental results show that even though the amount of augmentation is large, our algorithm can preserve the important information in lung fields, local structures, and global visual effect adequately. The proposed method can be used to augment training and testing image data sets so that the trained machine learning model can be used to process CXRs from various sources, and it can be potentially used broadly in any medical imaging applications.

Keywords: computer-aided diagnosis, image augmentation, lung segmentation, medical imaging, seam carving

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Authors: V. Markogianni, D. Kalivas, G. Petropoulos, E. Dimitriou

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Lake water quality monitoring in combination with the use of earth observation products constitutes a major component in many water quality monitoring programs. Landsat 8 images of Trichonis Lake (Greece) acquired on 30/10/2013 and 30/08/2014 were used in order to explore the possibility of Landsat 8 to estimate water quality parameters and particularly CDOM absorption at specific wavelengths, chlorophyll-a and nutrient concentrations in this oligotrophic freshwater body, characterized by inexistent quantitative, temporal and spatial variability. Water samples have been collected at 22 different stations, on late August of 2014 and the satellite image of the same date was used to statistically correlate the in-situ measurements with various combinations of Landsat 8 bands in order to develop algorithms that best describe those relationships and calculate accurately the aforementioned water quality components. Optimal models were applied to the image of late October of 2013 and the validation of the results was conducted through their comparison with the respective available in-situ data of 2013. Initial results indicated the limited ability of the Landsat 8 sensor to accurately estimate water quality components in an oligotrophic waterbody. As resulted by the validation process, ammonium concentrations were proved to be the most accurately estimated component (R = 0.7), followed by chl-a concentration (R = 0.5) and the CDOM absorption at 420 nm (R = 0.3). In-situ nitrate, nitrite, phosphate and total nitrogen concentrations of 2014 were measured as lower than the detection limit of the instrument used, hence no statistical elaboration was conducted. On the other hand, multiple linear regression among reflectance measures and total phosphorus concentrations resulted in low and statistical insignificant correlations. Our results were concurrent with other studies in international literature, indicating that estimations for eutrophic and mesotrophic lakes are more accurate than oligotrophic, owing to the lack of suspended particles that are detectable by satellite sensors. Nevertheless, although those predictive models, developed and applied to Trichonis oligotrophic lake are less accurate, may still be useful indicators of its water quality deterioration.

Keywords: landsat 8, oligotrophic lake, remote sensing, water quality

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Authors: Samhita Mummadi, Sree Divya Nagalli, Harshini Vemuri, Saketh Charan Nakka, Sumesh K. J.

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One of the most significant challenges faced by people in today’s digital era is an alarming increase in fraudulent activities on online platforms. The fascination with online shopping to avoid long queues in shopping malls, the availability of a variety of products, and home delivery of goods have paved the way for a rapid increase in vast online shopping platforms. This has had a major impact on increasing fraudulent activities as well. This loop of online shopping and transactions has paved the way for fraudulent users to commit fraud. For instance, consider a store that orders thousands of products all at once, but what’s fishy about this is the massive number of items purchased and their transactions turning out to be fraud, leading to a huge loss for the seller. Considering scenarios like these underscores the urgent need to introduce machine learning approaches to combat fraud in online shopping. By leveraging robust algorithms, namely KNN, Decision Trees, and Random Forest, which are highly effective in generating accurate results, this research endeavors to discern patterns indicative of fraudulent behavior within transactional data. Introducing a comprehensive solution to this problem in order to empower e-commerce administrators in timely fraud detection and prevention is the primary motive and the main focus. In addition to that, sentiment analysis is harnessed in the model so that the e-commerce admin can tailor to the customer’s and consumer’s concerns, feedback, and comments, allowing the admin to improve the user’s experience. The ultimate objective of this study is to ramp up online shopping platforms against fraud and ensure a safer shopping experience. This paper underscores a model accuracy of 84%. All the findings and observations that were noted during our work lay the groundwork for future advancements in the development of more resilient and adaptive fraud detection systems, which will become crucial as technologies continue to evolve.

Keywords: behavior analysis, feature selection, Fraudulent pattern recognition, imbalanced classification, transactional anomalies

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Authors: Zafer Yüce, Paşa Yayla, Alev Taşkın

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There are heaps of analytical methods to estimate the crack growth life of a component. Soft computing methods have an increasing trend in predicting fatigue life. Their ability to build complex relationships and capability to handle huge amounts of data are motivating researchers and industry professionals to employ them for challenging problems. This study focuses on soft computing methods, especially random forest regressors and artificial neural networks with hyperparameter optimization algorithms such as grid search and random grid search, to estimate the crack growth life of an aircraft wing splice joint under variable amplitude loading. TensorFlow and Scikit-learn libraries of Python are used to build the machine learning models for this study. The material considered in this work is 7050-T7451 aluminum, which is commonly preferred as a structural element in the aerospace industry, and regarding the crack type; corner crack is used. A finite element model is built for the joint to calculate fastener loads and stresses on the structure. Since finite element model results are validated with analytical calculations, findings of the finite element model are fed to AFGROW software to calculate analytical crack growth lives. Based on Fighter Aircraft Loading Standard for Fatigue (FALSTAFF), 90 unique fatigue loading spectra are developed for various load levels, and then, these spectrums are utilized as inputs to the artificial neural network and random forest regression models for predicting crack growth life. Finally, the crack growth life predictions of the machine learning models are compared with analytical calculations. According to the findings, a good correlation is observed between analytical and predicted crack growth lives.

Keywords: aircraft, fatigue, joint, life, optimization, prediction.

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Authors: Hung-Yuan Chang, Wen-Lung Chiang, Kuo-Liang Wu, Chen-Tsung Lin

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National Space Organization (NSPO) has completed in 2014 the development of a space-borne GPS receiver, including design, manufacture, comprehensive functional test, environmental qualification test and so on. The main performance of this receiver include 8-meter positioning accuracy, 0.05 m/sec speed-accuracy, the longest 90 seconds of cold start time, and up to 15g high dynamic scenario. The receiver will be integrated in the autonomous FORMOSAT-7 NSPO-Built satellite scheduled to be launched in 2019 to execute pre-defined scientific missions. The flight model of this receiver manufactured in early 2015 will pass comprehensive functional tests and environmental acceptance tests, etc., which are expected to be completed by the end of 2015. The space-borne GPS receiver is a pure software design in which all GPS baseband signal processing are executed by a digital signal processor (DSP), currently only 50% of its throughput being used. In response to the booming global navigation satellite systems, NSPO will gradually expand this receiver to become a multi-mode, multi-band, high-precision navigation receiver, and even a science payload, such as the reflectometry receiver of a global navigation satellite system. The fundamental purpose of this extension study is to port some software algorithms such as signal acquisition and correlation, reused code and large amount of computation load to the FPGA whose processor is responsible for operational control, navigation solution, and orbit propagation and so on. Due to the development and evolution of the FPGA is pretty fast, the new system architecture upgraded via an FPGA should be able to achieve the goal of being a multi-mode, multi-band high-precision navigation receiver, or scientific receiver. Finally, the results of tests show that the new system architecture not only retains the original overall performance, but also sets aside more resources available for future expansion possibility. This paper will explain the detailed DSP/FPGA architecture, development, test results, and the goals of next development stage of this receiver.

Keywords: space-borne, GPS receiver, DSP, FPGA, multi-mode multi-band

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Authors: Roberto Cabezas H

Abstract:

The current work shows the methodology developed to create narrative lighting spaces for the multimedia performance piece 'cluster: the vanished paradise.' This empirical research is focused on exploring unconventional roles for machines in subjective creative processes, by delving into the semantics of data and machine intelligence algorithms in hybrid technological, creative contexts to expand epistemic domains trough human-machine cooperation. The creative process in scenic and performing arts is guided mostly by intuition; from that idea, we developed an approach to embed collective intuition in computational creative systems, by joining the properties of Generative Adversarial Networks (GAN’s) and Fuzzy Clustering based on a semi-supervised data creation and analysis pipeline. The model makes use of GAN’s to learn from phenomenological data (data generated from experience with lighting scenography) and algorithmic design data (augmented data by procedural design methods), fuzzy logic clustering is then applied to artificially created data from GAN’s to define narrative transitions built on membership index; this process allowed for the creation of simple and complex spaces with expressive capabilities based on position and light intensity as the parameters to guide the narrative. Hybridization comes not only from the human-machine symbiosis but also on the integration of different techniques for the implementation of the aided design system. Machine intelligence tools as proposed in this work are well suited to redefine collaborative creation by learning to express and expand a conglomerate of ideas and a wide range of opinions for the creation of sensory experiences. We found in GAN’s and Fuzzy Logic an ideal tool to develop new computational models based on interaction, learning, emotion and imagination to expand the traditional algorithmic model of computation.

Keywords: fuzzy clustering, generative adversarial networks, human-machine cooperation, hybrid collective data, multimedia performance

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Authors: Habtamu Abera Goshu, Ping Yan

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Copy number variation (CNV) is a significant marker of the genetic and phenotypic diversity among individuals that accounts for complex quantitative traits of phenotype and diseases via modulating gene dosage, position effects, alteration of downstream pathways, modification of chromosome structure, and position within the nucleus and disrupting coding regions in the genome. Associating copy number variations (CNVs) with growth and gene expression are a powerful approach for identifying genomic characteristics that contribute to phenotypic and genotypic variation. A previous study using next-generation sequencing illustrated that the choline kinase beta (CHKB), Krüpple-like factor 6 (KLF6), glypican 1(GPC1), and cholinergic receptor muscarinic 3 (CHRM3) genes reside within copy number variable regions (CNVRs) of yak populations that overlap with quantitative trait loci (QTLs) of meat quality and growth. As a result, this research aimed to determine the association of CNVs of the KLF6, CHKB, GPC1, and CHRM3 genes with growth traits in the Datong yak breed. The association between the CNV types of the KLF6, CHKB, GPC1, and CHRM3 genes and the growth traits in the Datong yak breed was determined by one-way analysis of variance (ANOVA) using SPSS software. The CNV types were classified as a loss (a copy number of 0 or 1), gain (a copy number >2), and normal (a copy number of 2) relative to the reference gene, BTF3 in the 387 individuals of Datong yak. These results indicated that the normal CNV types of the CHKB and GPC1 genes were significantly (P<0.05) associated with high body length, height and weight, and chest girth in six-month-old and five-year-old Datong yaks. On the other hand, the loss CNV types of the KLF6 gene is significantly (P<0.05) associated with body weight and length and chest girth at six-month-old and five-year-old Datong yaks. In the contrary, the gain CNV type of the CHRM3 gene is highly (P<0.05) associated with body weight, length, height, and chest girth in six-month-old and five-year-old. This work provides the first observation of the biological role of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in the Datong yak breed and might, therefore, provide a novel opportunity to utilize data on CNVs in designing molecular markers for the selection of animal breeding programs for larger populations of various yak breeds. Therefore, we hypothesized that this study provided inclusive information on the application of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in growth traits in Datong yaks and its possible function in bovine species.

Keywords: Copy number variation, growth traits, yak, genes

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Authors: Philipp Galkin

Abstract:

Government policy is a critical factor in the understanding of energy markets. Regardless, it is rarely approached systematically from a research perspective. Gaining a precise understanding of what policies exist, their intended outcomes, geographical extent, duration, evolution, etc. would enable the research community to answer a variety of questions that, for now, are either oversimplified or ignored. Policy, on its surface, also seems a rather unstructured and qualitative undertaking. There may be quantitative components, but incorporating the concept of policy analysis into quantitative analysis remains a challenge. The KAPSARC Energy Policy Database (KEPD) is intended to address these two energy policy research limitations. Our approach is to represent policies within a quantitative library of the specific policy measures contained within a set of legal documents. Each of these measures is recorded into the database as a single entry characterized by a set of qualitative and quantitative attributes. Initially, we have focused on the major laws at the national level that regulate coal in China. However, KAPSARC is engaged in various efforts to apply this methodology to other energy policy domains. To ensure scalability and sustainability of our project, we are exploring semantic processing using automated computer algorithms. Automated coding can provide a more convenient input data for human coders and serve as a quality control option. Our initial findings suggest that the methodology utilized in KEPD could be applied to any set of energy policies. It also provides a convenient tool to facilitate understanding in the energy policy realm enabling the researcher to quickly identify, summarize, and digest policy documents and specific policy measures. The KEPD captures a wide range of information about each individual policy contained within a single policy document. This enables a variety of analyses, such as structural comparison of policy documents, tracing policy evolution, stakeholder analysis, and exploring interdependencies of policies and their attributes with exogenous datasets using statistical tools. The usability and broad range of research implications suggest a need for the continued expansion of the KEPD to encompass a larger scope of policy documents across geographies and energy sectors.

Keywords: China, energy policy, policy analysis, policy database

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Authors: Djeddi Khaled, Houssou Hind, Miloudi Abdellatif, Rabah Siham

Abstract:

In the field of veterinary medicine, there is a growing application of artificial intelligence (AI) for diagnosing bovine mastitis, a prevalent inflammatory disease in dairy cattle. AI technologies, such as automated milking systems, have streamlined the assessment of key metrics crucial for managing cow health during milking and identifying prevalent diseases, including mastitis. These automated milking systems empower farmers to implement automatic mastitis detection by analyzing indicators like milk yield, electrical conductivity, fat, protein, lactose, blood content in the milk, and milk flow rate. Furthermore, reports highlight the integration of somatic cell count (SCC), thermal infrared thermography, and diverse systems utilizing statistical models and machine learning techniques, including artificial neural networks, to enhance the overall efficiency and accuracy of mastitis detection. According to a review of 15 publications, machine learning technology can predict the risk and detect mastitis in cattle with an accuracy ranging from 87.62% to 98.10% and sensitivity and specificity ranging from 84.62% to 99.4% and 81.25% to 98.8%, respectively. Additionally, machine learning algorithms and microarray meta-analysis are utilized to identify mastitis genes in dairy cattle, providing insights into the underlying functional modules of mastitis disease. Moreover, AI applications can assist in developing predictive models that anticipate the likelihood of mastitis outbreaks based on factors such as environmental conditions, herd management practices, and animal health history. This proactive approach supports farmers in implementing preventive measures and optimizing herd health. By harnessing the power of artificial intelligence, the diagnosis of bovine mastitis can be significantly improved, enabling more effective management strategies and ultimately enhancing the health and productivity of dairy cattle. The integration of artificial intelligence presents valuable opportunities for the precise and early detection of mastitis, providing substantial benefits to the dairy industry.

Keywords: artificial insemination, automatic milking system, cattle, machine learning, mastitis

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Authors: Christelle E. Chua, Alicia L. Ho

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The development of a panel of differential gene expression signatures has been of interest in the field of biomarker discovery for radiation exposure. In the absence of the availability of exposed human subjects, lymphocyte cell lines have often been used as a surrogate to human whole blood, when performing ex vivo irradiation studies. The extent of variation between different lymphocyte cell lines is currently unclear, especially with regard to the expression of extracellular miRNA. This study compares the expression profile of extracellular miRNA isolated from different lymphocyte cell lines. It also compares the profile of miRNA obtained when different exosome isolation kits are used. Lymphocyte cell lines were created using lymphocytes isolated from healthy adult males of similar racial descent (Chinese American and Chinese Singaporean) and immortalised with Epstein-Barr virus. The cell lines were cultured in exosome-free cell culture media for 72h and the cell culture supernatant was removed for exosome isolation. Two exosome isolation kits were used. Total exosome isolation reagent (TEIR, ThermoFisher) is a polyethylene glycol (PEG)-based exosome precipitation kit, while ExoSpin (ES, Cell Guidance Systems) is a PEG-based exosome precipitation kit that includes an additional size exclusion chromatography step. miRNA from the isolated exosomes were isolated using miRNEASY minikit (Qiagen) and analysed using nCounter miRNA assay (Nanostring). Principal component analysis (PCA) results suggested that the overall extracellular miRNA expression profile differed between the lymphocyte cell line originating from the Chinese American donor and the cell line originating from the Chinese Singaporean donor. As the gender, age and racial origins of both donors are similar, this may suggest that there are other genetic or epigenetic differences that account for the variation in extracellular miRNA gene expression in lymphocyte cell lines. However, statistical analysis showed that only 3 miRNA genes had a fold difference > 2 at p < 0.05, suggesting that the differences may not be of that great a significance as to impact overall conclusions drawn from different cell lines. Subsequent analysis using cell lines from other donors will give further insight into the reproducibility of results when difference cell lines are used. PCA results also suggested that the method of exosome isolation impacted the expression profile. 107 miRNA had a fold difference > 2 at p < 0.05. This suggests that the inclusion of an additional size exclusion chromatography step altered the subset of the extracellular vesicles that were isolated. In conclusion, these results suggest that extracellular miRNA can be isolated and analysed from exosomes derived from lymphocyte cell lines. However, care must be taken in the choice of cell line and method of exosome isolation used.

Keywords: biomarker, extracellular miRNA, isolation methods, lymphocyte cell line

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Authors: Mehrdad Shafiei Dizaji, Hoda Azari

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The research explores the pioneering integration of Physics-Informed Neural Networks (PINNs) into the domain of Ground-Penetrating Radar (GPR) data prediction, akin to advancements in medical imaging for tracking tumor progression in the human body. This research presents a detailed development framework for a specialized PINN model proficient at interpreting and forecasting GPR data, much like how medical imaging models predict tumor behavior. By harnessing the synergy between deep learning algorithms and the physical laws governing subsurface structures—or, in medical terms, human tissues—the model effectively embeds the physics of electromagnetic wave propagation into its architecture. This ensures that predictions not only align with fundamental physical principles but also mirror the precision needed in medical diagnostics for detecting and monitoring tumors. The suggested deep learning structure comprises three components: a CNN, a spatial feature channel attention (SFCA) mechanism, and ConvLSTM, along with temporal feature frame attention (TFFA) modules. The attention mechanism computes channel attention and temporal attention weights using self-adaptation, thereby fine-tuning the visual and temporal feature responses to extract the most pertinent and significant visual and temporal features. By integrating physics directly into the neural network, our model has shown enhanced accuracy in forecasting GPR data. This improvement is vital for conducting effective assessments of bridge deck conditions and other evaluations related to civil infrastructure. The use of Physics-Informed Neural Networks (PINNs) has demonstrated the potential to transform the field of Non-Destructive Evaluation (NDE) by enhancing the precision of infrastructure deterioration predictions. Moreover, it offers a deeper insight into the fundamental mechanisms of deterioration, viewed through the prism of physics-based models.

Keywords: physics-informed neural networks, deep learning, ground-penetrating radar (GPR), NDE, ConvLSTM, physics, data driven

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Authors: Neelam Kadyan, Pratima Ranga, Yogender

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Indigenous people are the One who are affected by the climate change the most, although there have contributed little to its causes. This is largely a result of their historic dependence on local biological diversity, ecosystem services and cultural landscapes as a source of their sustenance and well-being. Comprising only four percent of the world’s population they utilize 22 percent of the world’s land surface. Despite their high exposure-sensitivity indigenous peoples and local communities are actively responding to changing climatic conditions and have demonstrated their resourcefulness and resilience in the face of climate change. Traditional Indigenous territories encompass up to 22 percent of the world’s land surface and they coincide with areas that hold 80 percent of the planet’s biodiversity. Also, the greatest diversity of indigenous groups coincides with the world’s largest tropical forest wilderness areas in the Americas (including Amazon), Africa, and Asia, and 11 percent of world forest lands are legally owned by Indigenous Peoples and communities. This convergence of biodiversity-significant areas and indigenous territories presents an enormous opportunity to expand efforts to conserve biodiversity beyond parks, which tend to benefit from most of the funding for biodiversity conservation. Tapping on Ancestral Knowledge Indigenous Peoples are carriers of ancestral knowledge and wisdom about this biodiversity. Their effective participation in biodiversity conservation programs as experts in protecting and managing biodiversity and natural resources would result in more comprehensive and cost effective conservation and management of biodiversity worldwide. Addressing the Climate Change Agenda Indigenous Peoples has played a key role in climate change mitigation and adaptation. The territories of indigenous groups who have been given the rights to their lands have been better conserved than the adjacent lands (i.e., Brazil, Colombia, Nicaragua, etc.). Preserving large extensions of forests would not only support the climate change objectives, but it would respect the rights of Indigenous Peoples and conserve biodiversity as well. A climate change agenda fully involving Indigenous Peoples has many more benefits than if only government and/or the private sector are involved. Indigenous peoples are some of the most vulnerable groups to the negative effects of climate change. Also, they are a source of knowledge to the many solutions that will be needed to avoid or ameliorate those effects. For example, ancestral territories often provide excellent examples of a landscape design that can resist the negatives effects of climate change. Over the millennia, Indigenous Peoples have developed adaptation models to climate change. They have also developed genetic varieties of medicinal and useful plants and animal breeds with a wider natural range of resistance to climatic and ecological variability.

Keywords: ancestral knowledge, cost effective conservation, management, indigenous peoples, climate change

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: B. Grygalewicz, R. Woroniecka, J. Rygier, K. Borkowska, A. Labak, B. Nowakowska, B. Pienkowska-Grela

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Introduction: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the Western world. Hemizygous and or homozygous loss at 13q14 occur in more than half of cases and constitute the most frequent chromosomal abnormality in CLL. It is believed that deletions 13q14 play a role in CLL pathogenesis. Two microRNA genes miR-15a and miR- 16-1 are targets of 13q14 deletions and plays a tumor suppressor role by targeting antiapoptotic BCL2 gene. Deletion size, as a single change detected in FISH analysis, has haprognostic significance. Patients with small deletions, without RB1 gene involvement, have the best prognosis and the longest overall survival time (OS 133 months). In patients with bigger deletion region, containing RB1 gene, prognosis drops to intermediate, like in patients with normal karyotype and without changes in FISH with overall survival 111 months. Aim: Precise delineation of 13q14 deletions regions in two groups of CLL patients, with mono- and biallelic deletions and qualifications of their prognostic significance. Methods: Detection of 13q14 deletions was performed by FISH analysis with CLL probe panel (D13S319, LAMP1, TP53, ATM, CEP-12). Accurate deletion size detection was performed by CGH Haematological Cancer and SNP array (8x60K). Results: Our investigated group of CLL patients with the 13q14 deletion, detected by FISH analysis, comprised two groups: 18 patients with monoallelic deletions and 18 patients with biallelic deletions. In FISH analysis, in the monoallelic group the range of cells with deletion, was 43% to 97%, while in biallelic group deletion was detected in 11% to 94% of cells. Microarray analysis revealed precise deletion regions. In the monoallelic group, the range of size was 348,12 Kb to 34,82 Mb, with median deletion size 7,93 Mb. In biallelic group discrepancy of total deletions, size was 135,27 Kb to 33,33 Mb, with median deletion size 2,52 Mb. The median size of smaller deletion regions on one copy chromosome 13 was 1,08 Mb while the average region of bigger deletion on the second chromosome 13 was 4,04 Mb. In the monoallelic group, in 8/18 deletion region covered RB1 gene. In the biallelic group, in 4/18 cases, revealed deletion on one copy of biallelic deletion and in 2/18 showed deletion of RB1 gene on both deleted 13q14 regions. All minimal deleted regions included miR-15a and miR-16-1 genes. Genetic results will be correlated with clinical data. Conclusions: Application of CGH microarrays technique in CLL allows accurately delineate the size of 13q14 deletion regions, what have a prognostic value. All deleted regions included miR15a and miR-16-1, what confirms the essential role of these genes in CLL pathogenesis. In our investigated groups of CLL patients with mono- and biallelic 13q14 deletions, patients with biallelic deletion presented smaller deletion sizes (2,52 Mb vs 7,93 Mb), what is connected with better prognosis.

Keywords: CLL, deletion 13q14, CGH microarrays, SNP array

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Authors: Fadi Saleh, Çığdem Sezer Zhmurov

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Biopharmaceuticals represent one of the wildest developing fields within biotechnology, and the biological macromolecules being produced inside cells have a variety of applications for therapies. In the past, mammalian cells, especially CHO cells, have been employed in the production of biopharmaceuticals. This is because these cells can achieve human-like completion of PTM. These systems, however, carry apparent disadvantages like high production costs, vulnerability to contamination, and limitations in scalability. This research is focused on the utilization of microalgae as a bioreactor system for the synthesis of biopharmaceutical glycoproteins in relation to PTMs, particularly N-glycosylation. The research points to a growing interest in microalgae as a potential substitute for more conventional expression systems. A number of advantages exist in the use of microalgae, including rapid growth rates, the lack of common human pathogens, controlled scalability in bioreactors, and the ability of some PTMs to take place. Thus, the potential of microalgae to produce recombinant proteins with favorable characteristics makes this a promising platform in order to produce biopharmaceuticals. The study focuses on the examination of the N-glycosylation pathways across different species of microalgae. This investigation is important as N-glycosylation—the process by which carbohydrate groups are linked to proteins—profoundly influences the stability, activity, and general performance of glycoproteins. Additionally, bioinformatics methodologies are employed to explain the genetic pathways implicated in N-glycosylation within microalgae, with the intention of modifying these organisms to produce glycoproteins suitable for human consumption. In this way, the present comparative analysis of the N-glycosylation pathway in humans and microalgae can be used to bridge both systems in order to produce biopharmaceuticals with humanized glycosylation profiles within the microalgal organisms. The results of the research underline microalgae's potential to help improve some of the limitations associated with traditional biopharmaceutical production systems. The study may help in the creation of a cost-effective and scale-up means of producing quality biopharmaceuticals by modifying microalgae genetically to produce glycoproteins with N-glycosylation that is compatible with humans. Improvements in effectiveness will benefit biopharmaceutical production and the biopharmaceutical sector with this novel, green, and efficient expression platform. This thesis, therefore, is thorough research into the viability of microalgae as an efficient platform for producing biopharmaceutical glycoproteins. Based on the in-depth bioinformatic analysis of microalgal N-glycosylation pathways, a platform for their engineering to produce human-compatible glycoproteins is set out in this work. The findings obtained in this research will have significant implications for the biopharmaceutical industry by opening up a new way of developing safer, more efficient, and economically more feasible biopharmaceutical manufacturing platforms.

Keywords: microalgae, glycoproteins, post-translational modification, genome

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Authors: Alsu F. Saifitdinova, Alexey S. Komissarov, Svetlana A. Galkina, Elena I. Koshel, Maria M. Kulak, Stephen J. O'Brien, Elena R. Gaginskaya

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The mystery of sex determination is one of the most ancient and still not solved until the end so far. In many species, sex determination is genetic and often accompanied by the presence of dimorphic sex chromosomes in the karyotype. Genomic sequencing gave the information about the gene content of sex chromosomes which allowed to reveal their origin from ordinary autosomes and to trace their evolutionary history. Female-specific W chromosome in birds as well as mammalian male-specific Y chromosome is characterized by the degeneration of gene content and the accumulation of repetitive DNA. Tandem repeats complicate the analysis of genomic data. Despite the best efforts chicken W chromosome assembly includes only 1.2 Mb from expected 55 Mb. Supplementing the information on the sex chromosome composition not only helps to complete the assembly of genomes but also moves us in the direction of understanding of the sex-determination systems evolution. A whole-genome survey to the assembly Gallus_gallus WASHUC 2.60 was applied for repeats search in assembled genome and performed search and assembly of high copy number repeats in unassembled reads of SRR867748 short reads datasets. For cytogenetic analysis conventional methods of fluorescent in situ hybridization was used for previously cloned W specific satellites and specifically designed directly labeled synthetic oligonucleotide DNA probe was used for bioinformatically identified repetitive sequence. Hybridization was performed with mitotic chicken chromosomes and manually isolated giant meiotic lampbrush chromosomes from growing oocytes. A novel chicken W specific satellite (GGAAA)n which is not co-localizes with any previously described classes of W specific repeats was identified and mapped with high resolution. In the composition of autosomes this repeat units was found as a part of upstream regions of gonad specific protein coding sequences. These findings may contribute to the understanding of the role of tandem repeats in sex specific differentiation regulation in birds and sex chromosome evolution. This work was supported by the postdoctoral fellowships from St. Petersburg State University (#1.50.1623.2013 and #1.50.1043.2014), the grant for Leading Scientific Schools (#3553.2014.4) and the grant from Russian foundation for basic researches (#15-04-05684). The equipment and software of Research Resource Center “Chromas” and Theodosius Dobzhansky Center for Genome Bioinformatics of Saint Petersburg State University were used.

Keywords: birds, lampbrush chromosomes, sex chromosomes, tandem repeats

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Authors: Madia Safdar, G. Amjad Hussain, Mashhood Ahmad

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One of the major challenges of today’s era is peak demand which causes stress on the transmission lines and also raises the cost of energy generation and ultimately higher electricity bills to the end users, and it was used to be managed by the supply side management. However, nowadays this has been withdrawn because of existence of potential in the demand side management (DSM) having its economic and- environmental advantages. DSM in domestic load can play a vital role in reducing the peak load demand on the network provides a significant cost saving. In this paper the potential of demand response (DR) in reducing the peak load demands and electricity bills to the electric users is elaborated. For this purpose the domestic appliances are modeled in MATLAB Simulink and controlled by a module called energy management controller. The devices are categorized into controllable and uncontrollable loads and are operated according to real-time tariff pricing pattern instead of fixed time pricing or variable pricing. Energy management controller decides the switching instants of the controllable appliances based on the results from optimization algorithms. In GAMS software, the MILP (mixed integer linear programming) algorithm is used for optimization. In different cases, different constraints are used for optimization, considering the comforts, needs and priorities of the end users. Results are compared and the savings in electricity bills are discussed in this paper considering real time pricing and fixed tariff pricing, which exhibits the existence of potential to reduce electricity bills and peak loads in demand side management. It is seen that using real time pricing tariff instead of fixed tariff pricing helps to save in the electricity bills. Moreover the simulation results of the proposed energy management system show that the gained power savings lie in high range. It is anticipated that the result of this research will prove to be highly effective to the utility companies as well as in the improvement of domestic DR.

Keywords: controllable and uncontrollable domestic loads, demand response, demand side management, optimization, MILP (mixed integer linear programming)

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Authors: Dávid Kovács, Bálint Csanády, Dániel Boros, Iván Ivkovic, Lóránt Nagy, Dalma Tóth-Lakits, László Márkus, András Lukács

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The modeling practice of financial instruments has seen significant change over the last decade due to the recognition of time-dependent and stochastically changing correlations among the market prices or the prices and market characteristics. To represent this phenomenon, the Stochastic Correlation Process (SCP) has come to the fore in the joint modeling of prices, offering a more nuanced description of their interdependence. This approach has allowed for the attainment of realistic tail dependencies, highlighting that prices tend to synchronize more during intense or volatile trading periods, resulting in stronger correlations. Evidence in statistical literature suggests that, similarly to the volatility, the SCP of certain stock prices follows rough paths, which can be described using fractional differential equations. However, estimating parameters for these equations often involves complex and computation-intensive algorithms, creating a necessity for alternative solutions. In this regard, the Fractional Ornstein-Uhlenbeck (fOU) process from the family of fractional processes offers a promising path. We can effectively describe the rough SCP by utilizing certain transformations of the fOU. We employed neural networks to understand the behavior of these processes. We had to develop a fast algorithm to generate a valid and suitably large sample from the appropriate process to train the network. With an extensive training set, the neural network can estimate the process parameters accurately and efficiently. Although the initial focus was the fOU, the resulting model displayed broader applicability, thus paving the way for further investigation of other processes in the realm of financial mathematics. The utility of SCP extends beyond its immediate application. It also serves as a springboard for a deeper exploration of fractional processes and for extending existing models that use ordinary Wiener processes to fractional scenarios. In essence, deploying both SCP and fractional processes in financial models provides new, more accurate ways to depict market dynamics.

Keywords: fractional Ornstein-Uhlenbeck process, fractional stochastic processes, Heston model, neural networks, stochastic correlation, stochastic differential equations, stochastic volatility

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Authors: Daniel J. Patricio Jiménez

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Digital reality demands new ways of thinking, flexibility in learning, acquisition of new competencies, visualizing reality under new approaches, generating open spaces, understanding dimensions in continuous change, etc. We need inclusive growth, where colors are not lacking, where lights do not give a distorted reality, where science is not half-truth. In carrying out this study, the documentary or bibliographic collection has been taken into account, providing a reflective and analytical analysis of current reality. In this context, deductive and inductive methods have been used on different multidisciplinary information sources. Women today and tomorrow are a strategic element in science and arts, which, under the umbrella of sustainability, implies ‘meeting current needs without detriment to future generations’. We must build new scenarios, which qualify ‘the feminine and the masculine’ as an inseparable whole, encouraging cooperative behavior; nothing is exclusive or excluding, and that is where true respect for diversity must be based. We are all part of an ecosystem, which we will make better as long as there is a real balance in terms of gender. It is the time of ‘the lifting of the veil’, in other words, it is the time to discover the pseudonyms, the women who painted, wrote, investigated, recorded advances, etc. However, the current reality demands much more; we must remove doors where they are not needed. Mass processing of data, big data, needs to incorporate algorithms under the perspective of ‘the feminine’. However, most STEM students (science, technology, engineering, and math) are men. Our way of doing science is biased, focused on honors and short-term results to the detriment of sustainability. Historically, the canons of beauty, the way of looking, of perceiving, of feeling, depended on the circumstances and interests of each moment, and women had no voice in this. Parallel to science, there is an under-representation of women in the arts, but not so much in the universities, but when we look at galleries, museums, art dealers, etc., colours impoverish the gaze and once again highlight the gender gap and the silence of the feminine. Art registers sensations by divining the future, science will turn them into reality. The uniqueness of the so-called new normality requires women to be protagonists both in new forms of emotion and thought, and in the experimentation and development of new models. This will result in women playing a decisive role in the so-called "5.0 society" or, in other words, in a more sustainable, more humane world.

Keywords: art, digitalization, gender, science

Procedia PDF Downloads 163