Search results for: genetic diagnosis

Authors: Aftab Ahmed, Ghulam Mehboob

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The object of presentation is to highlight the importance of condition which is a very rare genetic disorder although Paget’s disease is common but its juvenile type is very rare and a late presentation due to very slow onset and lack of earlier standard management. We present a case of 25 years old male with a chronic history of bone pain and a slow onset of mild swelling, later on diagnosed as juvenile Paget disease of bone. Rarity of this condition with inaccessibility for standard health treatment can lead to a significant delay in presentation and its management. There have been 50 reported cases worldwide according to Genetic Home Reference. There is increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very significant which lead children to become immobilize.

Keywords: juvenile, Paget’s disease, bone, Northern Area of Pakistan

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Authors: Mohamed Mahmoud

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This paper has developed an effect-cause analysis technique for fault diagnosis in digital circuits. The main algorithm of our technique is based on the Enhanced Deduction Algorithm, which processes the real response of the CUT to the applied test T to deduce the values of the internal lines. An experimental version of the algorithm has been implemented in C++. The code takes about 7592 lines. The internal values are determined based on the logic values under the permanent stuck-fault model. Using a backtracking strategy guarantees that the actual values are covered by at least one solution, or no solution is found.

Keywords: enhanced deduction algorithm, backtracking strategy, automatic test equipment, verfication

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Authors: Talaat Ahmed, Amna Babssail

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Mangroves are evergreen trees and grow along the coastal areas of Qatar. The largest and oldest area of mangroves can be found around Al-Thakhira and Al-Khor. Other mangrove areas originate from fairly recent plantings by the government, although unfortunately the picturesque mangrove lake in Al-Wakra has now been uprooted. Avicinnia marina is the predominant mangrove species found in the region. Mangroves protect and stabilize low lying coastal land, and provide protection and food sources for estuarine and coastal fishery food chains. They also serve as feeding, breeding and nursery grounds for a variety of fish, crustaceans, reptiles, birds and other wildlife. A total of 21 individuals of A. marina, representing seven diverse Natural and artificial populations, were sampled throughout its range in Qatar. Leaves from 2-3 randomly selected trees at each location were collected. The locations are as follows: Al-Rawis, Ras-Madpak, Fuwairt, Summaseima, Al-khour, AL-Mafjar and Zekreet. Total genomic DNA was extracted using commercial DNeasy Plant System (Qiagen, Inc., Valencia, CA) kit to be used for genetic diversity analysis. Total of 12 (Inter-Simple Sequence Repeat) ISSR primers were used to amplify DNA fragments using genomic DNA. The 12 ISSR primers amplified polymorphic bands among mangrove samples in different areas as well as within each area indicating the existing of variation within each area and among the different areas of mangrove in Qatar. The results could characterize Avicinnia marina populations exist in different areas of Qatar and establish DNA fingerprint documentations for mangrove population to be used in further studies. Moreover, existing of genetic variation within and among Avicinnia marina populations is a strong indication for the ability of such populations to adapt different environmental conditions in Qatar. This study could be a warning to save mangrove in Qatar and save the environment as well.

Keywords: DNA fingerprint, Avicinnia marina, genetic analysis, Qatar

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Authors: Fuad M. Alkoot

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DNA data have been used in forensics for decades. However, current research looks at using the DNA as a biometric identity verification modality. The goal is to improve the speed of identification. We aim at using gene data that was initially used for autism detection to find if and how accurate is this data for identification applications. Mainly our goal is to find if our data preprocessing technique yields data useful as a biometric identification tool. We experiment with using the nearest neighbor classifier to identify subjects. Results show that optimal classification rate is achieved when the test set is corrupted by normally distributed noise with zero mean and standard deviation of 1. The classification rate is close to optimal at higher noise standard deviation reaching 3. This shows that the data can be used for identity verification with high accuracy using a simple classifier such as the k-nearest neighbor (k-NN). 

Keywords: biometrics, genetic data, identity verification, k nearest neighbor

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Authors: Cuneyt Yucelbas, Seral Ozsen, Sule Yucelbas, Gulay Tezel

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Due to the fact that there exist only a small number of complex systems in artificial immune system (AIS) that work out nonlinear problems, nonlinear AIS approaches, among the well-known solution techniques, need to be developed. Gaussian function is usually used as similarity estimation in classification problems and pattern recognition. In this study, diagnosis of breast cancer, the second type of the most widespread cancer in women, was performed with different distance calculation functions that euclidean, gaussian and gaussian-euclidean hybrid function in the clonal selection model of classical AIS on Wisconsin Breast Cancer Dataset (WBCD), which was taken from the University of California, Irvine Machine-Learning Repository. We used 3-fold cross validation method to train and test the dataset. According to the results, the maximum test classification accuracy was reported as 97.35% by using of gaussian-euclidean hybrid function for fold-3. Also, mean of test classification accuracies for all of functions were obtained as 94.78%, 94.45% and 95.31% with use of euclidean, gaussian and gaussian-euclidean, respectively. With these results, gaussian-euclidean hybrid function seems to be a potential distance calculation method, and it may be considered as an alternative distance calculation method for hard nonlinear classification problems.

Keywords: artificial immune system, breast cancer diagnosis, Euclidean function, Gaussian function

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Authors: Ying Qi Chan, Chunyu Li, Xu Rou Yoyo Ma, Yaya Li, Saber Khederzadeh

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In the ever-evolving landscape of genome extraction protocols, the existing methodologies grapple with issues ranging from sub-optimal yields and compromised quality to time-intensive procedures and reliance on hazardous reagents, often necessitating substantial tissue quantities. This predicament is particularly challenging for scientists in developing countries, where resources are limited. Our investigation presents a protocol for the efficient extraction of high-yield RNA from various tissues such as muscle, insect, and plant samples. Noteworthy for its advantages, our protocol stands out as the safest, swiftest (completed in just 38 minutes), most cost-effective (coming in at a mere US$0.017), and highly efficient method in comparison to existing protocols. Notably, our method avoids the use of hazardous or toxic chemicals such as chloroform and phenol and enzymatic agents like RNase and Proteinase K. Our RNA extraction protocol has demonstrated clear advantages over other methods, including commercial kits, in terms of yield. This nucleic acid extraction protocol is more environmentally and research-friendly, suitable for a range of tissues, even in tiny volumes, hence facilitating various genetic diagnosis and researches across the globe.

Keywords: RNA extraction, rapid protocol, universal method, diverse tissues

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Authors: I. Boroňová, J. Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, S. Mačeková, J. Poráčová, M. M. Blaščáková

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Osteoporosis is a common multifactorial disease with a strong genetic component characterized by reduced bone mass and increased risk of fractures. Genetic factors play an important role in the pathogenesis of osteoporosis. The aim of our study was to identify the genotype and allele distribution of T245G polymorphism in OPG gene in Slovak postmenopausal women. A total of 200 unrelated Slovak postmenopausal women with diagnosed osteoporosis and 200 normal controls were genotyped for T245G (rs3134069) polymorphism of OPG gene. Genotyping was performed using the Custom Taqman®SNP Genotyping assays. Genotypes and alleles frequencies showed no significant differences (p=0.5551; p=0.6022). The results of the present study confirm the importance of T245G polymorphism in OPG gene in the pathogenesis of osteoporosis.

Keywords: OPG gene, T245G polymorphism, osteoporosis, T245G polymorphism, real-time PCR

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Authors: Sabitha Rani A., Nagamani V.

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Embelia ribes Burm.f (Family-Myrsinaceae) commonly known as Vidanga or Baibirang, is one of the important medicinal plants of India. The seed extract is reported to be antidiabetic, antitumour, analgesic, anti-inflammatory, antispermatogenic, free radical scavenging activities and widely used in more than 75 Ayurvedic commercial formulations. Among the 100 different species of Embelia, E. ribes is considered as a major source of Embelin, a bioactive compound. Because of high demand and low availability, the seeds of E. ribes are substituted with many cheaper alternatives. Therefore, the present study of RAPD-PCR analysis was undertaken to develop molecular markers for identification of E. ribes. A total of 13 different seed samples of Embelia were collected from different agro-climatic regions of India. The seeds of E.ribes were collected from Kalpetta, Kerala and three different seed samples were collected from traders of Odisha, Madhya Pradesh, Maharastra. The other nine seed samples were collected from local traders which they have collected from different regions of India. Genomic DNA was isolated from different seed samples E. ribes and RAPD-PCR was performed on 13 different seed samples using 47 random primers. Out of all the primers, only 22 primers produced clear and highly-reproducible banding patterns. The 22 selected RAPD primers generated a total of 280 alleles with an average of 12 alleles per primer pair. In the present study, we have identified three RAPD-PCR markers i.e. OPF5_480 bp, OPH11_520 bp and OPH4_530 bp which can be used for genetic fingerprinting of E. ribes. This methodology can be employed for identification of original E. ribes and also distinguishing it from other substitutes and adulterants.

Keywords: Embelia ribes, RAPD-PCR, primers, genetic analysis

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Authors: Begna Tulu, Gobena Ameni

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Understanding the types of Mycobacterium bovis (M. bovis) strains circulating in a country and exploring its zoonotic potential has significant contribution in the effort to design control strategies. The main aim of this study was to review and compile the results of studies conducted on M. bovis genotyping and its zoonotic potential of M. bovis in Ethiopia. A systematic search and review of articles published on M. bovis strains in Ethiopia were made. PubMed and Google Scholar databases were considered for the search while the keywords used were 'Mycobacteria,' 'Mycobacterium bovis,' 'Bovine Tuberculosis' and 'Ethiopia.' Fourteen studies were considered in this review and a total of 31 distinct strains of M. bovis (N=211) were obtained; the most dominant strains were SB0133 (N=62, 29.4%), SB1176 (N=61, 28.9%), and followed by SB0134 and SB1476 each (N=18, 8.5%). The clustering rate of M. bovis strains was found to be 42.0%. On the other hand, 6 strains of M. bovis were reported from human namely; SB0665 (N=4), SB0303 (N=2), SB0982 (N=2), SB0133 (N=1), SB1176 (N=1), and 1 new strain. Similarly, a total of 8 strains (N=13) of M. tuberculosis bacteria were also identified from animal subjects; namely SIT149 (N=3), SIT1 (N=2), SIT1688 (n=2), SIT262 (N=2), SIT53 (N=1), SIT59 (N=1), and one new-Ethiopian strain. The result showed that the genetic diversity of M. bovis strains reported from Ethiopia are less diversified and highly clustered. And also the result underlines that there is an ongoing active transmission of M. bovis and M. tuberculosis between human and animals in Ethiopia because a significant number strains of both type of bacteria were reported from human and animals.

Keywords: mycobacterium bovis, Mycobacterium tuberculosis, zoonotic potential, genetic diversity, Ethiopia

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Authors: Tianle Yang

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As a common mental disorder, depression is a leading cause of various diseases worldwide. Early detection and treatment of depression can dramatically promote remission and prevent relapse. However, conventional ways of depression diagnosis require considerable human effort and cause economic burden, while still being prone to misdiagnosis. On the other hand, recent studies report that physical characteristics are major contributors to the diagnosis of depression, which inspires us to mine the internal relationship by neural networks instead of relying on clinical experiences. In this paper, neural networks are constructed to predict depression from physical characteristics. Two initialization methods are examined - Xaiver and Kaiming initialization. Experimental results show that a 3-layers neural network with Kaiming initialization achieves 83% accuracy.

Keywords: depression, neural network, Xavier initialization, Kaiming initialization

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Authors: Yaser Meeralam, Walaa Alharthi, Hadeel Ashi, Alaa Bakhsh, Kholood Aljabri, Ebtihal Bin Salim

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Background:Basidiobolusranrum causes one of the rare fungal diseases that infects mainly immunocompetent individuals. Gastrointestinal Basidiobolomycosis (GIB) is a rare and uncommon form of this fungal infection. It’s still ambiguous how this fungus is reaching the gastrointestinal tract leading to Gastrointestinal Basidiobolomycosis. Objective: To summarize the clinical features, imaging, and histopathological of patients diagnosed with GIB in our institution. Patients and methods: A series of five cases of patients who diagnosed by basidiobolomycosis in King Abdullah Medical City, Makkah, Saudi Arabia, which reviewed by latest literature related to diagnosis and treatment. Results: Most of the patients were externally evaluated and were initially misdiagnosed. Some of them were suspected of colonic malignancy, other presumed to have hepatic hemangioma and fistulizing crohn’s disease. The definitive diagnosis is often based on histopathological examination and fungal culture of the surgically resected mass. An optimum standardized treatment of basidiobolomycosis has not yet been established. Conclusion: Deeper knowledge of clinical characteristics, diagnosis, and treatment of basidiobolomycosis will allow early initiating of treatment with a subsequent positive impact on the patients’ outcome. More studies are needed to establish a definite treatment.

Keywords: gastrointestinal infection, crohn's mimics, malignancy mimics, fungal infection

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Authors: Syed Sameer Aga, Saniya Nissar

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The Xeroderma pigmentosum group D gene (XPD) plays a key role in nucleotide excision repair (NER) pathway of the damaged DNA. Genetic polymorphisms in the coding region of the XPD gene may alter DNA repair capacity of the protein and hence can modulate the risk of colorectal cancer (CRC) risk. The aim of the study was to determine the genetic association of XPD Lys751Gln polymorphism with the risk of colorectal cancer (CRC) development. 120 CRC patients and 160 normal controls were assessed for genotype frequencies of XPD Lys751Gln polymorphism using PCR-RFLP technique. We observed a significant association (p < 0.05) between the XPD Lys751Gln polymorphism and the risk of developing CRC (p < 0.05). Additionally, Gln/Gln genotype of the XPD gene doubled the risk for the development of CRC [p < 0.05; OR=2.25 95% CI (1.07-4.7)]. Our results suggest that there is a significant association between the XPD Lys751Gln polymorphism and the risk of CRC.

Keywords: colorectal cancer, polymorphism, RFLP, DNA Repair, NER, XPD

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Authors: Yaya Gao, Jifeng Liu, Yafeng Liu

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Objectives: This study aimed to improve clinicians' understanding and diagnosis of the Mammary analogue secretory carcinoma of the salivary gland（MASC）. Methods: The clinical features of a MASC patient who was admitted to WestChina Hospital of Sichuan University in July 2020 were reviewed and analyzed. A 49-year-old woman with left upper neck pain for three months was admitted to the hospital. She underwent adenoma resection of the left submandibular gland 14 years ago and mucoepidermoid carcinoma resection surgery five years ago. Three months before admission, the patient developed pain in the left mandibular angle after "fatigue" and gradually developed radiation pain in the left ear, which could be relieved after rest. A mass of 1cm could be touched at the mandibular, with tenderness, poor mobility, and hard texture. No swelling, heat, pain, rupture, or pus was found on the surrounding skin. Color doppler ultrasonography of the salivary gland indicated a weak echo mass of 23*14*17mm in the left parotid gland. Results: Surgical excision was completed. Immunohistochemistry of the tumor samples after operation showed that P63（a few，+）, CK7（+）, S100（+）, DOG1（-）, Ki67（MIB-1）（+，5%），pan-TRK（+）, PAS(+) . ETV-6 gene translocation was detected in FISH in postoperative pathology, which indicated MASC. After this diagnosis, the patient sent the postoperative specimen of the second submandibular tumor to our hospital for consultation. The morphology of the two was similar. FISH detected ETV-6 gene translocation, so the second pathological diagnosis was revised to MASC. Conclusion: MASC of the salivary gland is a rare salivary gland tumor whose diagnosis depends on the result of the ETV6-NTRK3 fusion gene.

Keywords: mammary analogue secretory carcinoma, ETV6-NTRK3, salivary gland, misdiagnosed

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Authors: Alexander Dao, Oscar Wambuguh

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Irritable Bowel Syndrome (IBS) is a heterogeneous functional bowel disease that is characterized by chronic visceral abdominal pain and abnormal bowel function and habits. Its multifactorial pathophysiology and mechanisms are still largely a mystery to the contemporary biomedical community, although there are many hypotheses to try to explain IBS’s presumed physiological, psychosocial, genetic, and environmental etiologies. IBS’s symptomatic presentation is varied and divided into four major subtypes: IBS-C, IBS-D, IBS-M, and IBS-U. Given its diverse presentation and unclear mechanisms, diagnosis is done through a combination of positive identification utilizing the “Rome IV Irritable Bowel Syndrome Criteria'' (Rome IV) diagnostic criteria while also excluding other potential conditions with similar symptoms. Treatment of IBS is focused on the management of symptoms using an assortment of pharmaceuticals, lifestyle changes, and dietary changes, with future potential in microbial treatment and psychotherapy as other therapy methods. Its chronic, heterogeneous nature and disruptive gastrointestinal (GI) symptoms are negatively impactful on patients’ daily lives, health systems, and society. However, with a better understanding of the gaps in knowledge and technological advances in IBS’s pathophysiology, management, and treatment options, there is optimism for the millions of people worldwide who are suffering from the debilitating effects of IBS.

Keywords: irritable bowel syndrome, lifestyle, diet, functional gastrointestinal disorder

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Authors: Edafe Lucky Okotie, Emmanuel Osawaru Omosigho

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This paper examines the impacts of the introduction of distributed energy generation (DEG) technology into the Nigerian power system as an alternative means of energy generation at distribution ends using Otovwodo 15 MVA, 33/11kV injection substation as a case study. The overall idea is to increase the generated energy in the system, improve the voltage profile and reduce system losses. A photovoltaic-based distributed energy generator (PV-DEG) was considered and was optimally placed in the network using Genetic Algorithm (GA) in Mat. Lab/Simulink environment. The results of simulation obtained shows that the dynamic performance of the network was optimized with DEG-grid integration.

Keywords: distributed energy generation (DEG), genetic algorithm (GA), power quality, total load demand, voltage profile

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Authors: Mst. Tuhina-Khatun, Mohamed Hanafi Musa, Mohd Rafii Yosup, Wong Mui Yun, Md. Aktar-Uz-Zaman, Mahbod Sahebi

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Rice is a staple crop of economic importance of most Asian people, and blast is the major constraints for its higher yield. Heritability of plants traits helps plant breeders to make an appropriate selection and to assess the magnitude of genetic improvement through hybridization. Diversity of crop plants is necessary to manage the continuing genetic erosion and address the issues of genetic conservation for successfully meet the future food requirements. Therefore, an experiment was conducted to estimate heritability and to determine the diversity of 27 blast resistant upland rice genotypes based on 18 quantitative traits using randomized complete block design. Heritability value was found to vary from 38 to 93%. The lowest heritability belonged to the character total number of tillers/plant (38%). In contrast, number of filled grains/panicle, and yield/plant (g) was recorded for their highest heritability value viz. 93 and 91% correspondingly. Cluster analysis based on 18 traits grouped 27 rice genotypes into six clusters. Cluster I was the biggest, which comprised 17 genotypes, accounted for about 62.96% of total population. The multivariate analysis suggested that the genotype ‘Chokoto 14’ could be hybridized with ‘IR 5533-55-1-11’ and ‘IR 5533-PP 854-1’ for broadening the gene pool of blast resistant upland rice germplasms for yield and other favorable characters.

Keywords: blast resistant, diversity analysis, heritability, upland rice

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Authors: Muhammad Fiaz Qamar, Uzma Mehreen, Muhammad Arfan Zaman, Kazim Ali

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Ovine Theileriosis is a world-wide concern, especially in tropical and subtropical areas, due to having tick abundance that has received less awareness in different developed and developing areas due to less worth of sheep, low to the middle level of infection in different small ruminants herd. Across Asia, the prevalence reports have been conducted to provide equivalent calculation of flock and animal level prevalence of Theileriosisin animals. It is a challenge for veterinarians to timely diagnosis & control of Theileriosis and famers because of the nature of the organism and inadequacy of restricted plans to control. All most work is based upon the development of such a technique which should be farmer-friendly, less expensive, and easy to perform into the field. By the timely diagnosis of this disease will decrease the irrational use of the drugs, and other plan was to determine the prevalence of Theileriosis in District Jhang by using the conventional method, PCR and qPCR, and LAMP. We quantify the molecular epidemiology of T.lestoquardiin sheep from Jhang districts, Punjab, Pakistan. In this study, we concluded that the overall prevalence of Theileriosis was (32/350*100= 9.1%) in sheep by using Giemsa staining technique, whereas (48/350*100= 13%) is observed by using PCR technique (56/350*100=16%) in qPCR and the LAMP technique have shown up to this much prevalence percentage (60/350*100= 17.1%). The specificity and sensitivity also calculated in comparison with the PCR and LAMP technique. Means more positive results have been shown when the diagnosis has been done with the help of LAMP. And there is little bit of difference between the positive results of PCR and qPCR, and the least positive animals was by using Giemsa staining technique/conventional method. If we talk about the specificity and sensitivity of the LAMP as compared to PCR, The cross tabulation shows that the results of sensitivity of LAMP counted was 94.4%, and specificity of LAMP counted was 78%. Advances in scientific field must be upon reality based ideas which can lessen the gaps and hurdles in the way of scientific research; the lamp is one of such techniques which have done wonders in adding value and helping human at large. It is such a great biological diagnostic tools and has helped a lot in the proper diagnosis and treatment of certain diseases. Other methods for diagnosis, such as culture techniques and serological techniques, have exposed humans with great danger. However, with the help of molecular diagnostic technique like LAMP, exposure to such pathogens is being avoided in the current era Most prompt and tentative diagnosis can be made using LAMP. Other techniques like PCR has many disadvantages when compared to LAMP as PCR is a relatively expensive, time consuming, and very complicated procedure while LAMP is relatively cheap, easy to perform, less time consuming, and more accurate. LAMP technique has removed hurdles in the way of scientific research and molecular diagnostics, making it approachable to poor and developing countries.

Keywords: distribution, thelaria, LAMP, primer sequences, PCR

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Authors: M. Saiful Islam, M. Mohandes, S. Rehman, S. Badran

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Increasing necessity of wind power is directing us to have precise knowledge on wind resources. Methodical investigation of potential locations is required for wind power deployment. High penetration of wind energy to the grid is leading multi megawatt installations with huge investment cost. This fact appeals to determine appropriate places for wind farm operation. For accurate assessment, detailed examination of wind speed profile, relative humidity, temperature and other geological or atmospheric parameters are required. Among all of these uncertainty factors influencing wind power estimation, vertical extrapolation of wind speed is perhaps the most difficult and critical one. Different approaches have been used for the extrapolation of wind speed to hub height which are mainly based on Log law, Power law and various modifications of the two. This paper proposes a Artificial Neural Network (ANN) and Genetic Algorithm (GA) based hybrid model, namely GA-NN for vertical extrapolation of wind speed. This model is very simple in a sense that it does not require any parametric estimations like wind shear coefficient, roughness length or atmospheric stability and also reliable compared to other methods. This model uses available measured wind speeds at 10m, 20m and 30m heights to estimate wind speeds up to 100m. A good comparison is found between measured and estimated wind speeds at 30m and 40m with approximately 3% mean absolute percentage error. Comparisons with ANN and power law, further prove the feasibility of the proposed method.

Keywords: wind profile, vertical extrapolation of wind, genetic algorithm, artificial neural network, hybrid machine learning

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Authors: S. Yaman, S. Rostami

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In this study, a black box modeling of the coupled-tank system is obtained by using fuzzy sets. The derived model is tested via adaptive neuro fuzzy inference system (ANFIS). In order to achieve a better control performance, the parameters of three different controller types, classical proportional integral controller (PID), fuzzy PID and function tuner method, are tuned by one of the evolutionary computation method, genetic algorithm. All tuned controllers are applied to the fuzzy model of the coupled-tank experimental setup and analyzed under the different reference input values. According to the results, it is seen that function tuner method demonstrates better robust control performance and guarantees the closed loop stability.

Keywords: function tuner method (FTM), fuzzy modeling, fuzzy PID controller, genetic algorithm (GA)

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Authors: Rachel Shukrun, Szilvia Baron, Victoria Fidel, Anna Shusterman, Osnat Sher, Netanya Kollender, Dror Levin, Yair Peled, Yair Gortzak, Yoav Ben-Shahar, Revital Caspi, Sagi Gordon, Michal Manisterski, Ronit Elhasid

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Ewing sarcoma (EWS) is a highly aggressive cancer with a survival rate of 70–80% for patients with localized disease and under 30% for those with metastatic disease. Tumor-infiltrating neutrophils (TIN) can generate extracellular net-like DNA structures known as neutrophil extracellular traps (NETs). However, little is known about the presence and prognostic significance of tumor-infiltrating NETs in EWS. Herein, we investigated 46 patients diagnosed with EWS and treated in the Tel Aviv Medical Center between 2010 and 2021. TINs and NETs were identified in diagnostic biopsies of EWS by immunofluorescent. In addition, NETs were investigated in neutrophils isolated from peripheral blood samples of EWS patients at diagnosis and following neoadjuvant chemotherapy. The relationships between the presence of TINs and NETs, pathological and clinical features, and outcomes were analyzed. Our results demonstrate that TIN and NETs at diagnosis were higher in EWS patients with metastatic disease compared to those with local disease. High NETs formation at diagnosis predicted poor response to neo-adjuvant chemotherapy, relapse, and death from disease (P < .05). NETs formation in peripheral blood samples at diagnosis was significantly elevated among patients with EWS compared to pediatric controls and decreased significantly following neoadjuvant chemotherapy. In conclusion, NETs formation seems to have a role in the EWS immune microenvironment. Their presence can refine risk stratification, predict chemotherapy resistance and survival, and serve as a therapeutic target in patients with EWS.

Keywords: Ewing sarcoma, tumor microenvironment, neutrophil, neutrophil extracellular traps (NETs), prognosis

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Authors: Anukriti Verma, Bhawna Rathi, Shivani Sharda

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Reactive Arthritis (ReA) is a disorder that causes inflammation in joints due to certain infections at distant sites in the body. ReA begins with stiffness, pain, and inflammation in these areas especially the ankles, knees, and hips. It gradually causes several complications such as conjunctivitis in the eyes, skin lesions in hand, feet and nails and ulcers in the mouth. Nowadays the diagnosis of ReA is based upon a differential diagnosis pattern. The parameters for differentiating ReA from other similar disorders include physical examination, history of the patient and a high index of suspicion. There are no standard lab tests or markers available for ReA hence the early diagnosis of ReA becomes difficult and the chronicity of disease increases with time. It is reported that enteric disorders such as Inflammatory Bowel Disease (IBD) that is inflammation in gastrointestinal tract namely Crohn’s Disease (CD) and Ulcerative Colitis (UC) are reported to be linked with ReA. Several microorganisms are found such as Campylobacter, Salmonella, Shigella and Yersinia causing IBD leading to ReA. The aim of our study was to perform the in-silico analysis in order to find interactions between microorganisms and human host causing IBD leading to ReA. A systems biology approach for metabolic network reconstruction and simulation was used to find the essential genes of the reported microorganisms. Interactomics study was used to find the interactions between the pathogen genes and human host. Genes such as nhaA (pathogen), dpyD (human), nagK (human) and kynU (human) were obtained that were analysed further using the functional, pathway and network analysis. These genes can be used as putative drug targets and biomarkers in future for early diagnosis, prevention, and treatment of IBD leading to ReA.

Keywords: drug targets, inflammatory bowel disease, reactive arthritis, systems biology

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Authors: Abouamama Sidaoui, Noureddine Karkachi, Mebrouk Kihal

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The characteristics of Fusarium oxysporium f.sp. albedinis (Foa) isolates were investigated using electrophoretic studies of isozymes systems (esterase and phosphatase). All the (F.o.a) isolates were pathogenic to the date palm seedlings cultivar Deglet Nour, but they did not induce any disease symptoms on control plants. Fusarium sp. isolated from soil did not show aggression against these seedlings. The isoenzymes profiles revealed polymorphic bands. The data were subjected to analysis with the JMP method. The isolates were delineated into two main groups A and B which were divided into sub-groups. 19 isolates create the group A, and four isolates (E1, E2, E3 and M15A) formed the group B. Analysis of isozyme banding patterns was found to be a reliable marker technology, efficient, and effective tools to find the genetic variability among isolates isolated in different geographical areas.

Keywords: genetic diversity, Fusarium oxysporium f. sp. albedinis, isozyme analysis, pathogenicity

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Authors: Kemka C. Ihemelandu, Chukwuemeka U. Ihemelandu

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The incidence of melanoma has been increasing rapidly over the past two decades, making melanoma a current public health crisis. Unfortunately, even as screening efforts continue to expand in an effort to ameliorate the death rate from melanoma, there is a need to improve diagnostic accuracy to decrease misdiagnosis. Artificial intelligence (AI) a new frontier in patient care has the ability to improve the accuracy of melanoma diagnosis. Convolutional neural network (CNN) a form of deep neural network, most commonly applied to analyze visual imagery, has been shown to outperform the human brain in pattern recognition. However, there are noted limitations with the accuracy of the CNN models. Our aim in this study was the optimization of convolutional neural network algorithms for the automated diagnosis of melanoma. We hypothesized that Optimal selection of the momentum and batch hyperparameter increases model accuracy. Our most successful model developed during this study, showed that optimal selection of momentum of 0.25, batch size of 2, led to a superior performance and a faster model training time, with an accuracy of ~ 83% after nine hours of training. We did notice a lack of diversity in the dataset used, with a noted class imbalance favoring lighter vs. darker skin tone. Training set image transformations did not result in a superior model performance in our study.

Keywords: melanoma, convolutional neural network, momentum, batch hyperparameter

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Authors: Sadia Munir

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Preeclampsia is the contributor to the worldwide maternal mortality of approximately 100,000 deaths a year. It complicates about 10% of all pregnancies and is the first cause of maternal admission to intensive care units. Predicting preeclampsia is a major challenge in obstetrics. More importantly, no major progress has been achieved in the treatment of preeclampsia. As placenta is the main cause of the disease, the only way to treat the disease is to extract placental and deliver the baby. In developed countries, the cost of an average case of preeclampsia is estimated at £9000. Interestingly, preeclampsia may have an impact on the health of mother or infant, beyond the pregnancy. We performed a systematic search of PubMed including the combination of terms such as preeclampsia, biomarkers, treatment, hypoxia, inflammation, oxidative stress, vascular endothelial growth factor A, activin A, inhibin A, placental growth factor, transforming growth factor β-1, Nodal, placenta, trophoblast cells, microRNAs. In this review, we have summarized current knowledge on the identification of potential biomarkers for the diagnosis of preeclampsia. Although these studies show promising data in early diagnosis of preeclampsia, the current value of these factors as biomarkers, for the precise prediction of preeclampsia, has its limitation. Therefore, future studies need to be done to support some of the very promising and interesting data to develop affordable and widely available tests for early detection and treatment of preeclampsia.

Keywords: activin, biomarkers, growth factors, miroRNA

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Authors: Yun-Chin Chung, Nileema Divate, Gen-Hung Chen, Pei-Ru Huang, Rupesh Divate

Abstract:

Many environmental factors, such as glucose concentration, ethanol, temperature, osmotic pressure and pH, decrease the production rate of ethanol using yeast as a starter. Fermentation starters with high tolerance to various stresses are always demanded for brewing industry. Trehalose, a storage carbohydrate in cell wall of yeast, plays an important role in tolerance of environmental stress by preserving integrity of plasma membrane and stabilizing proteins. Furan aldehydes are toxic to yeast and the growth rate of yeast is significantly reduced if furan aldehydes were present in the fermentation medium. In yeast, aldehyde reductase is involved in the detoxification of reactive aldehydes and consequently the growth of yeast is improved. The aims of this study were to construct a genetic recombinant Saccharomyces cerevisiae or Pichia pastoris with furfural and HMF degrading and high ethanol tolerance capacities. Yeast strains were engineered by genetic recombination for overexpression of trehalose-6-phosphate synthase gene (tps1) and aldehyde reductase gene (ari1). TPS1 gene was cloned from S. cerevisiae by reverse transcription-polymerase chain reaction (RT-PCR) and then ligated with pGAPZαC vector. The constructed vector, pGAPZC-tps1, was transformed to recombinant yeasts strain with overexpression of ari1. The transformants with pGAPZC-tps1-ari1 were generated called STA (S. cerevisiae) and PTA (P. pastoris) with overexpression of tps1, ari1. PCR with tps1-specific primers and western blot with his-tag confirmed the gene insertion and protein expression of tps1 in the transformants, respectively. The neutral trehalase gene (nth1) of STA was successfully deleted and the novel strain STAΔN will be used for further study, including the measurement of trehalose concentration and ethanol, furfural tolerance assay.

Keywords: genetic recombinant, yeast, ethanol tolerance, trehalase, aldehyde reductase

Procedia PDF Downloads 418

Authors: Duc V. Nguyen

Abstract:

Induction motors are widely used in different industry areas and can experience various kinds of faults in stators and rotors. In general, fault detection and diagnosis techniques for induction motors can be supervised by measuring quantities such as noise, vibration, and temperature. The installation of mechanical sensors in order to assess the health conditions of a machine is typically only done for expensive or load-critical machines, where the high cost of a continuous monitoring system can be Justified. Nevertheless, induced current monitoring can be implemented inexpensively on machines with arbitrary sizes by using current transformers. In this regard, effective and low-cost fault detection techniques can be implemented, hence reducing the maintenance and downtime costs of motors. This work proposes a method for fault detection and diagnosis of induction motors, which combines classical fast Fourier transform and modern/advanced machine learning techniques. The proposed method is validated on real-world data and achieves a precision of 99.7% for fault detection and 100% for fault classification with minimal expert knowledge requirement. In addition, this approach allows users to be able to optimize/balance risks and maintenance costs to achieve the highest benet based on their requirements. These are the key requirements of a robust prognostics and health management system.

Keywords: fault detection, FFT, induction motor, predictive maintenance

Procedia PDF Downloads 160

Authors: Jakub Młoźniak, Adam Szymański, Gabriela Stondzik, Dagny Krankowska, Tomasz Mikuła

Abstract:

Nontuberculous mycobacteria (NTM) are bacterial species that cause diversely manifesting diseases mainly in immunocompromised patients. In people with HIV, NTM infection is an AIDS-defining disease and usually appears when the lymphocyte T CD4 count is below 50 cells/μl. The usage of antiretroviral therapy has decreased the prevalence of NTM among people with HIV, but the disease can still be observed especially among patients with late HIV diagnosis. Common presence in environment, human colonization, clinical similarity with tuberculosis and slow growth on culture makes NTM especially hard to diagnose. The study aimed to analyze the epidemiology and clinical course of NTM among patients with HIV. This study included patients with NTM and HIV admitted to our department between 2017 and 2023. Medical records of patients were analyzed and data on age, sex, median time from HIV diagnosis to identification of NTM infection, median CD4 count at NTM diagnosis, methods of determining NTM infection, type of species of mycobacteria identified, clinical symptoms and treatment course were gathered. Twenty-four patients (20 men, 4 women) with identified NTM were included in this study. Among them, 20 were HIV late presenters. The patients' median age was 40. The main symptoms which patients presented were fever, weight loss and cough. Pulmonary disease confirmed with positive cultures from sputum/bronchoalveolar lavage was present in 18 patients. M. avium was the most common species identified. M. marinum caused disseminated skin lesions in 1 patient. Out of all, 5 people were not treated for NTM caused by lack of symptoms and suspicion of colonization with mycobacterium. Concomitant tuberculosis was present in 6 patients. The median diagnostic time from HIV to NTM infections was 3.5 months. The median CD4 count at NTM identification was 69.5 cells/μl. Median NTM treatment time was 16 months but 7 patients haven’t finished their treatment yet. The most commonly used medications were ethambutol and clarithromycin. Among analyzed patients, 4 of them have died. NTM infections are still an important disease among patients who are HIV late presenters. This disease should be taken into consideration during the differential diagnosis of fever, weight loss and cough in people with HIV with lymphocyte T CD4 count <100 cells/μl. Presence of tuberculosis does not exclude nontuberculous mycobacterium coinfection.

Keywords: mycobacteriosis, HIV, late presenter, epidemiology

Procedia PDF Downloads 38

Authors: K. Roushanger, A. Soleymanzadeh

Abstract:

Weirs are structures often used in irrigation techniques, sewer networks and flood protection. However, the hydraulic behavior of this type of weir is complex and difficult to predict accurately. An accurate flow prediction over a weir mainly depends on the proper estimation of discharge coefficient. In this study, the Genetic Expression Programming (GEP) approach was used for predicting trapezoidal and rectangular sharp-crested side weirs discharge coefficient. Three different performance indexes are used as comparing criteria for the evaluation of the model’s performances. The obtained results approved capability of GEP in prediction of trapezoidal and rectangular side weirs discharge coefficient. The results also revealed the influence of downstream Froude number for trapezoidal weir and upstream Froude number for rectangular weir in prediction of the discharge coefficient for both of side weirs.

Keywords: discharge coefficient, genetic expression programming, trapezoidal weir

Procedia PDF Downloads 382

Authors: Hyeon-Seung Kim, Young-Hwan Kim, Sang-Mi Park, Min-Seo Kim, Jong-Myeung Shin, Leen-Seok Kang

Abstract:

The project budget at the planned stage might be changed by the insufficient government budget or the design change. There are many cases more especially in the case of a project performed for a long period of time. If the actual construction budget is insufficient comparing with the planned budget, the construction schedule should also be changed to match the changed budget. In that case, most project managers change the planned construction schedule by a heuristic approach without a reasonable consideration on the work priority. This study suggests an optimized methodology to modify the construction schedule according to the changed budget. The genetic algorithm was used to optimize the modified construction schedule within the changed budget. And a simulation system of construction cost histogram in accordance with the construction schedule was developed in the BIM (Building Information Modeling) environment.

Keywords: 5D, BIM, GA, cost optimization

Procedia PDF Downloads 584

Authors: S. Zolghadri, M. Naderi, H. Yousefnia, B. Alirzapour, A. R. Jalilian, A. Ramazani

Abstract:

Nowadays, 68Ga-DOTATOC has been known as a potential agent for the detection of neuroendocrine tumours and it has indicated higher sensitivity compared with the 111In-Octeroetide. The aim of this study was to evaluate the effectiveness of this new agent in the diagnosis of adenocarcinoma breast cancer. 68Ga-DOTATOC was prepared with the radiochemical purity of higher than 98% and by the specific activity of 39.6 TBq/mmol. 37 MBq of the complex was injected intravenously into the BULB/c mice with adenocarcinoma breast cancer. PET/CT images were acquired after 30, 60 and 90 min post injection demonstrated significant accumulation in the tumour sites. Also, considerable activity was observed in the kidney and bladder as the main routs of excretion. Generally, the results showed that 68Ga-DOTATOC can be considered as a suitable complex for diagnosis of the adenocarcinoma breast cancer using PET procedure.

Keywords: adenocarcinoma breast cancer, 68Ga, octreotide, imaging

Procedia PDF Downloads 339