Search results for: genetic markers

Authors: Tatiana Ivushkina

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The paper is aimed at studying the use of literary words of foreign origin in modern fiction from a sociolinguistic point of view, which presupposes establishing correlation between this category of words in a speech portrayal or narrative and a social status of the speaker, verifying that it bears social implications and serves as a social marker or index of socially privileged identity in the British literature of the 21-st century. To this end, there were selected literary words of foreign origin in context (60 contexts) and subjected to careful examination. The study is carried out on two novels by Jeffrey Archer – Not a Penny More, Not a Penny Less and A Prisoner of Birth – who, being a graduate from Oxford, represents socially privileged classes himself and gives a wide depiction of characters with different social backgrounds and statuses. The analysis of the novels enabled us to categorize the selected words into four relevant groups. The first represented by terms (commodity, debenture, recuperation, syringe, luminescence, umpire, etc.) serves to unambiguously indicate education, occupation, a field of knowledge in which a character is involved or a situation of communication. The second group is formed of words used in conjunction with their Germanic counterparts (perspiration – sweat, padre – priest, convivial – friendly) to contrast social position of the characters: literary words serving as social indices of upper class speakers whereas their synonyms of Germanic origin characterize middle or lower class speech portrayals. The third class of words comprises socially marked words (verbs, nouns, and adjectives), or U-words (the term first coined by Allan Ross and Nancy Mitford), the status acquired in the course of social history development (elegant, excellent, sophistication, authoritative, preposterous, etc.). The fourth includes words used in a humorous or ironic meaning to convey the narrator’s attitude to the characters or situation itself (ministrations, histrionic, etc.). Words of this group are perceived as 'alien', stylistically distant as they create incongruity between style and subject matter. Social implication of the selected words is enhanced by French words and phrases often accompanying them.

Keywords: British literature of the XXI century, literary words of foreign origin, social context, social meaning

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Authors: Jihye Hwang, Eun Hwa Choi, Su Youn Baek, Bia Park, Gyeongmin Kim, Chorong Shin, Joon Ha Lee, Jae-Sam Hwang, Ui Wook Hwang

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White-spotted flower chafers are widely distributed in Asian countries and traditionally used for the treatment of chronic fatigue, blood circulation, and paralysis in the oriental medicine field. The evolution and development of insect wings and metamorphosis remain under-discovered subjects in arthropod evolutionary researches. Gene expression abundance analyses along with developmental stages based on the large-scale RNA-seq data are also still rarely done. Here we report the de novo assembly of a Protestia brevitarsis seulensis transcriptome along four different developmental stages (egg, larva, pupa, and adult) to explore its development and evolution of wings and metamorphosis. The de novo transcriptome assembly consists of 23,551 high-quality transcripts and is approximately 96.7% complete. Out of 8,545 transcripts, 5,183 correspond to the possible orthologs with Drosophila melanogaster. As a result, we could found 265 genes related to wing development and 19 genes related to metamorphosis. The comparison of transcript expression abundance with different developmental stages revealed developmental stage-specific transcripts especially working at the stage of wing development and metamorphosis of P. b. seulensis. This transcriptome quantification along the developmental stages may provide some meaningful clues to elucidate the genetic modulation mechanism of wing development and metamorphosis obtained during the insect evolution.

Keywords: white-spotted flower chafers, transcriptomics, RNA-seq, network biology, wing development, metamorphosis

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Authors: Arab M., Ait Abdallah M., Zeraoulia N., Boumaza H., Aoutia M., Griene L., Ait Abdelkader B.,

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breast and ovarian cancer are respectively the first and fourth leading causes of cancer among women in Algeria. A family story of cancer in the most important risk factor, and in most cases of families with breast and /or ovarian cancer, the pattern of cancer family can be attributed to mutation in BRCA1/2genes. objectibes: the aim of our study in to investigate the spectrum of BRCA1/2 germiline mutation in familial breast and /or ovarian cancer and to determine the prevalence and the nature of BRCA1/2mutation in Algeria methods: we deremined the prevalence of BRCA1/2 mutation within a cohort of 161 probands selected according the eisinger score double stranded sanger sequencing of all coding exons of BRCA1/2including flanking intronic region were performed results: we identified a total of 23 distinct deleterious mutations (class5) 12 differents mutations in BRCA1(52%) and 11 in BRCA2(48%). 78% (18/23) were protein truncating and 22%(5/23) missens mutations.3 novel deleterious mutations have been identified, which have not been described in public mutation database. one new mutation were found in two unrelated patients. the overall mutation detection rate in our study is 28,5%(46/161).more over, an UVS c7783 located in BRCA2 is found in two unrelated probands and segregate in the 02 families/ conclusion: our results sugget of large spectrum of BRCA1/2 mutation in Algerian breast/ovarian cancer family. The nature and prevalence of BRCA1/2mutation in algerian families are ongoing in a larger study, 80 probands are to day under investigation. This study which may therefore identify the genetic particularity of Algerian breast /ovarian cancer.

Keywords: BRCA1/2 mutations, hereditary breast cancer, algerian women, prvalence

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Authors: Akeem Akinboro, Bala Alhaj Kegun

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Haemoglobinopathy is a genetic disorder that has the potentiality to cause death of individuals in whom both the alpha (α) and beta (β) globin chains of the haemoglobin molecule are defective due to mutations in their genes. The haemoglobin genotype variants among some residents of Niger state, Nigeria, were determined using the secondary data available at Bida, Minna and Kotangora general hospitals of the state. A total of 1,639 data, representing 434, 655 and 550, collected from the outside patients who visited the medical laboratory units of the three general hospitals, respectively, over five years period (2015-2020) were analyzed into gene frequency, sex and age to determine their haemoglobin genotypes status. More males (51.6 – 58.7%) than females (41.3 – 48.4%) visited the three hospitals during the period covered and most of the patients were between 11 - 20 years old. The frequency of HbA allele in the human population was 0.72, 0.65, 0.68 for Bida, Minna and Kotangora, respectively, while it was 0.25, 0.29 and 0.28 for HbS allele. The HbC allele was prevalent at 0.03, 0.06 and 0.05 among the human population in Bida, Minna and Kotangora cities of Niger state. In overall, the prevalence of HbA, HbS and HbC alleles in Niger state of Nigeria was 0.68, 0.28 and 0.05. Minna being the capital city of Niger state and the most populous among the three cities in the state seems to have influx of more people who are carriers of abnormal haemoglobin genotypes which has resulted to higher frequency of HbS and HbC than those of the other two cities in this study. These results show that the pattern of haemoglobin genotypes frequency of Kontagora could be a prediction for the whole of Niger state. It is therefore necessary and important to take screening of blood for haemoglobin genotype serious among intending couples to prevent and reduce the possibility of having increase in the number of people with abnormal haemoglobin genotypes in the state.

Keywords: haemoglobin, genotype, niger state, gene frequency, general hospitals

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Authors: S. Zith Dey Babu, S. Kour, S. Verma, C. Verma, V. Pathania, A. Agrawal, V. Chaudhary, A. Manoj Puthur, R. Goyal, A. Pal, T. Danti Dey, A. Kumar, K. Wadhwa, O. Ved

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Background: Skin cancer is now is the buzzing button in the field of medical science. The cyst's pandemic is drastically calibrating the body and well-being of the global village. Methods: The extracted image of the skin tumor cannot be used in one way for diagnosis. The stored image contains anarchies like the center. This approach will locate the forepart of an extracted appearance of skin. Partitioning image models has been presented to sort out the disturbance in the picture. Results: After completing partitioning, feature extraction has been formed by using genetic algorithm and finally, classification can be performed between the trained and test data to evaluate a large scale of an image that helps the doctors for the right prediction. To bring the improvisation of the existing system, we have set our objectives with an analysis. The efficiency of the natural selection process and the enriching histogram is essential in that respect. To reduce the false-positive rate or output, GA is performed with its accuracy. Conclusions: The objective of this task is to bring improvisation of effectiveness. GA is accomplishing its task with perfection to bring down the invalid-positive rate or outcome. The paper's mergeable portion conflicts with the composition of deep learning and medical image processing, which provides superior accuracy. Proportional types of handling create the reusability without any errors.

Keywords: computer-aided system, detection, image segmentation, morphology

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Authors: Bavneet Kaur Sidhu, Manoj Tiwari

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Global Developmental Delay (GDD) is a common pediatric condition. Etiologies of GDD might, however, differ in developing countries. In the last decade, sporadic families are being reported in various countries. As to the author’s best knowledge, many risk factors and their correlation with the prevalence of GDD have been studied but its statistical correlation has not been done. Thus we propose the present study by targeting the risk factor, prevalence and their statistical correlation with GDD. FMR1 gene was studied to confirm the disease and its penetrance. A complete questionnaire-based performance was designed for the statistical studies having a personal, past and present medical history along with their socio-economic status as well. Methods: We distributed the children’s age in 4 different age groups having 5-year intervals and applied structural equation modeling (SEM) techniques, Spearman’s rank correlation coefficient, Karl Pearson correlation coefficient, and chi-square test.Result: A total of 1100 families were enrolled for this study; among them, 330 were clinically and biologically confirmed (radiological studies) for the disease, 204 were males (61.8%), 126 were females (38.18%). We found that 27.87% were genetic and 72.12 were sporadic, out of 72.12 %, 43.277% cases from urban and 56.72% from the rural locality, the mothers' literacy rate was 32.12% and working women numbers were 41.21%. Conclusions: There is a significant association between mothers' age and GDD prevalence, which is also followed by mothers' literacy rate and mothers' occupation, whereas there was no association between fathers' age and GDD.

Keywords: global developmental delay, FMR1 gene, spearman’ rank correlation coefficient, structural equation modeling

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Authors: Zeeshan Khan, Faisal Nouroz, Shumaila Noureen

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European or common rabbit (Oryctolagus cuniculus) belongs to class Mammalia, order Lagomorpha of family Leporidae. They are distributed worldwide and are native to Europe (France, Spain and Portugal) and Africa (Morocco and Algeria). LTR retrotransposons are major Class I mobile genetic elements of eukaryotic genomes and play a crucial role in genome expansion, evolution and diversification. They were mostly annotated in various genomes by conventional approaches of homology searches, which restricted the annotation of novel elements. Present work involved de novo identification of LTR retrotransposons by LTR_FINDER in haploid genome of rabbit (2247.74 Mb) distributed in 22 chromosomes, of which 7,933 putative full-length or partial copies were identified containing 69.38 Mb of elements, accounting 3.08% of the genome. Highest copy numbers (731) were found on chromosome 7, followed by chromosome 12 (705), while the lowest copy numbers (27) were detected in chromosome 19 with no elements identified from chromosome 21 due to partially sequenced chromosome, unidentified nucleotides (N) and repeated simple sequence repeats (SSRs). The identified elements ranged in sizes from 1.2 - 25.8 Kb with average sizes between 2-10 Kb. Highest percentage (4.77%) of elements was found in chromosome 15, while lowest (0.55%) in chromosome 19. The most frequent tRNA type was Arginine present in majority of the elements. Based on gained results, it was estimated that rabbit exhibits 15,866 copies having 137.73 Mb of elements accounting 6.16% of diploid genome (44 chromosomes). Further molecular analyses will be helpful in chromosomal localization and distribution of these elements on chromosomes.

Keywords: rabbit, LTR retrotransposons, genome, chromosome

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Authors: Priyanka Sharma, Niti Puri

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Anemia develops when blood lacks enough healthy erythrocytes. Past studies indicated that anemia, inflammatory process, and oxidative stress are interconnected. Erythrocytes are continuously exposed to reactive oxygen species (ROS) during circulation, due to normal aerobic cellular metabolism and also pathology of inflammatory diseases. Systemic mastocytosis and genetic depletion of mast cells have been shown to affect anaemia. In the present study, we attempted to reveal whether mast cells have a direct role in clearance or erythrophagocytosis of normal or oxidatively damaged erythrocytes. Murine erythrocytes were treated with tert-butyl hydroperoxidase (t-BHP), an agent that induces oxidative damage and mimics in vivo oxidative stress. Normal and oxidatively damaged erythrocytes were labeled with carboxyfluorescein succinimidyl ester (CFSE) to track erythrophagocytosis. We show, for the first time, direct erythrophagocytosis of oxidatively damaged erythrocytes in vitro by RBL-2H3 mast cells as well as in vivo by murine peritoneal mast cells. Also, activated mast cells, as may be present in inflammatory conditions, showed a significant increase in the uptake of oxidatively damaged erythrocytes than resting mast cells. This suggests the involvement of mast cells in erythrocyte clearance during oxidative stress or inflammatory disorders. Partial inhibition of phagocytosis by various inhibitors indicated that this process may be controlled by several pathways. Hence, our study provides important evidence for involvement of mast cells in severe anemia due to inflammation and oxidative stress and might be helpful to circumvent the adverse anemic disorders.

Keywords: mast cells, anemia, erythrophagocytosis, oxidatively damaged erythrocytes

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Authors: Claudia Patricia Beltran Miranda, Mónica López Anaya, Mónica Navarro Meza, Maria Leonor Valderrama Chairez

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Background: Mexico occupies the second world-wide place of morbid obese people (10- 12 million). Factors that predispose the development of MO are genetic, environmental, physiological, psycho-social and behavioral (nourishing habits). Objective: Associate Gln223Arg polymorphism of gene LEPR, levels of leptina and nourishing habits with the presence of morbid obesity in adolescents of the south of Jalisco (México). Methods: In 41 adolescents (18 normal weight and 23 morbid obesity) of 12 to 19 years of age, both sexes that were measure size and weight with tanita scale and stadimeter to determine IMC. Morbid obesity was determined by tables of the WHO and was established with a standard deviation >3. The Gln223Arg polymorphism have been identify by PCR and leptina levels by ELISA. Nourishing habits were evaluate by the questionnaire the Adolescent Food Habits Checklist. The statistical analysis was performed to compare mean scores obtained from the questionnaire when we compare morbid obesity vs. normal weight adolescents with p=0.03 and a significance of 95%. Results: frequencies alellics and genics were not stadistics significatives p= 0,011 and p=0,279 respectly when were compared between normal weight adolescents and morbib obesity Leptin levels and nourishing habits were associated with morbid obesity. The polymorphism not shown significance with morbid obesity. Conclusions: Dietary habits and leptin levels in adolescents are important factor that predisposes the development of obesity in adolescents. The presence of the polymorphism are not associated with morbid obesity in these subjects.

Keywords: leptin, nourishing habits, morbid obesity, polymorphism

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Authors: Shohreh Ghasemi

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Introduction: Melanoma is a complex disease with various clinical and histopathological features that impact prognosis and treatment decisions. Traditional methods of melanoma prognosis involve manual examination and interpretation of clinical and histopathological data by dermatologists and pathologists. However, the subjective nature of these assessments can lead to inter-observer variability and suboptimal prognostic accuracy. AI, with its ability to analyze vast amounts of data and identify patterns, has emerged as a promising tool for improving melanoma prognosis. Methods: A comprehensive literature search was conducted to identify studies that employed AI techniques for melanoma prognosis. The search included databases such as PubMed and Google Scholar, using keywords such as "artificial intelligence," "melanoma," and "prognosis." Studies published between 2010 and 2022 were considered. The selected articles were critically reviewed, and relevant information was extracted. Results: The review identified various AI methodologies utilized in melanoma prognosis, including machine learning algorithms, deep learning techniques, and computer vision. These techniques have been applied to diverse data sources, such as clinical images, dermoscopy images, histopathological slides, and genetic data. Studies have demonstrated the potential of AI in accurately predicting melanoma prognosis, including survival outcomes, recurrence risk, and response to therapy. AI-based prognostic models have shown comparable or even superior performance compared to traditional methods.

Keywords: artificial intelligence, melanoma, accuracy, prognosis prediction, image analysis, personalized medicine

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Authors: Roman Matejka, Vaclav Prochazka, Tibor Izak, Jana Stepanovska, Martina Travnickova, Alexander Kromka

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Cell-based impedance spectroscopy is suitable method for electrical monitoring of cell activity especially on substrates that cannot be easily inspected by optical microscope (without fluorescent markers) like decellularized tissues, nano-fibrous scaffold etc. Special sensor for this measurement was developed. This sensor consists of corning glass substrate with gold interdigitated electrodes covered with diamond layer. This diamond layer provides biocompatible non-conductive surface for cells. Also, a special PPFC flow cultivation chamber was developed. This chamber is able to fix sensor in place. The spring contacts are connecting sensor pads with external measuring device. Construction allows real-time live cell imaging. Combining with perfusion system allows medium circulation and generating shear stress stimulation. Experimental evaluation consist of several setups, including pure sensor without any coating and also collagen and fibrin coating was done. The Adipose derived stem cells (ASC) and Human umbilical vein endothelial cells (HUVEC) were seeded onto sensor in cultivation chamber. Then the chamber was installed into microscope system for live-cell imaging. The impedance measurement was utilized by vector impedance analyzer. The measured range was from 10 Hz to 40 kHz. These impedance measurements were correlated with live-cell microscopic imaging and immunofluorescent staining. Data analysis of measured signals showed response to cell adhesion of substrates, their proliferation and also change after shear stress stimulation which are important parameters during cultivation. Further experiments plan to use decellularized tissue as scaffold fixed on sensor. This kind of impedance sensor can provide feedback about cell culture conditions on opaque surfaces and scaffolds that can be used in tissue engineering in development artificial prostheses. This work was supported by the Ministry of Health, grants No. 15-29153A and 15-33018A.

Keywords: bio-impedance measuring, bioreactor, cell cultivation, diamond layer, gold interdigitated electrodes, tissue engineering

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

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

Keywords: bacteriophage, pseudomonas, bacterial cancker, biological control

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Authors: Yulin Rao, Zhixuan Li, Burra Venkata Durga Kumar

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Intrusion detection refers to monitoring the actions of internal and external intruders on the system and detecting the behaviours that violate security policies in real-time. In intrusion detection, there has been much discussion about the application of neural network technology and artificial immune system (AIS). However, many solutions use static methods (signature-based and stateful protocol analysis) or centralized intrusion detection systems (CIDS), which are unsuitable for real-time intrusion detection systems that need to process large amounts of data and detect unknown intrusions. This article proposes a framework for a distributed intrusion detection system (DIDS) with multi-agents based on the concept of AIS and neural network technology to detect anomalies and intrusions. In this framework, multiple agents are assigned to each host and work together, improving the system's detection efficiency and robustness. The trainer agent in the central server of the framework uses the artificial neural network (ANN) rather than the negative selection algorithm of AIS to generate mature detectors. Mature detectors can distinguish between self-files and non-self-files after learning. Our analyzer agents use genetic algorithms to generate memory cell detectors. This kind of detector will effectively reduce false positive and false negative errors and act quickly on known intrusions.

Keywords: artificial immune system, distributed artificial intelligence, multi-agent, intrusion detection system, neural network

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Authors: Ali Kuzu

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There are about 800 thousand chemicals in our environment and the number is increasing more than a thousand every year. While most of these chemicals are used as components in various consumer products, some are faced as industrial waste in the environment. Unfortunately, many of these chemicals are hazardous and affect humans. According to the “International Program on Chemical Safety” of World Health Organization; Among the chronic health effects of chemicals, cancer is of major concern. Many substances have found in recent years to be carcinogenic in one or more species of laboratory animals. Especially with respect to long-term effects, the response to a chemical may vary, quantitatively or qualitatively, in different groups of individuals depending on predisposing conditions, such as nutritional status, disease status, current infection, climatic extremes, and genetic features, sex and age of the individuals. Understanding the response of such specific risk groups is an important area of toxicology research. People with age 65+ is defined as “aged (or elderly)”. The elderly population in the world is about 600 million, which corresponds to ~8 percent of the world population. While every 1 of each 4 people is aged in Japan, the elderly population is quite close to 20 percent in many developed countries. And elderly population in these countries is growing more rapidly than the total population. The negative effects of chemicals on elderly take an important place in health-care related issues in last decades. The aged population is more susceptible to the harmful effects of environmental chemicals. According to the poor health of the organ systems in elderly, the ability of their body to eliminate the harmful effects and chemical substances from their body is also poor. With the increasing life expectancy, more and more people will face problems associated with chemical residues.

Keywords: elderly, chemicals’ effects, aged care, care need

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

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

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

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Authors: Yitao Lei, Xingxiang Zhai, Burra Venkata Durga Kumar

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As the quantity and complexity of computing in large-scale software systems increase, distributed system computing becomes increasingly important. The distributed system realizes high-performance computing by collaboration between different computing resources. If there are no efficient resource scheduling resources, the abuse of distributed computing may cause resource waste and high costs. However, resource scheduling is usually an NP-hard problem, so we cannot find a general solution. However, some optimization algorithms exist like genetic algorithm, ant colony optimization, etc. The large scale of distributed systems makes this traditional optimization algorithm challenging to work with. Heuristic and machine learning algorithms are usually applied in this situation to ease the computing load. As a result, we do a review of traditional resource scheduling optimization algorithms and try to introduce a deep reinforcement learning method that utilizes the perceptual ability of neural networks and the decision-making ability of reinforcement learning. Using the machine learning method, we try to find important factors that influence the performance of distributed system computing and help the distributed system do an efficient computing resource scheduling. This paper surveys the application of deep reinforcement learning on distributed system computing resource scheduling proposes a deep reinforcement learning method that uses a recurrent neural network to optimize the resource scheduling, and proposes the challenges and improvement directions for DRL-based resource scheduling algorithms.

Keywords: resource scheduling, deep reinforcement learning, distributed system, artificial intelligence

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Authors: Bawa Yusuf Muhammad, Musa Abubakar Kana, Aminatu Abdulrahman, Kerry Goetz

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Background: Inherited eye diseases are disorders that affect globally, 1 in 1000 people. The six main world populations have created databases containing information on eye genotypes. Aim: The aim of the scoping review was to mine and present the available information to date on the genetics of inherited eye diseases within the African continent. Method: Literature Search Strategy was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). PubMed and Google Scholar searched for articles on inherited eye diseases from inception to 20th June 2022. Both Original and review articles that report on inherited, genetic or developmental/congenital eye diseases within the African Continent were included in the research. Results: A total of 1162 citations were obtained, but only 37 articles were reviewed based on the inclusion and exclusion criteria. The highest output of publications on inherited eye diseases comes from South Africa and Tunisia (about 43%), followed by Morocco and Egypt (27%), then Sub-Saharan Africa and North Africa (13.50%), while the remaining articles (16.5%) originated from Nigeria, Ghana, Mauritania Cameroon, Zimbabwe and combined article between Zimbabwe and Cameroon. Glaucoma and inherited retinal disorders represent the most studied diseases, followed by Albinism and congenital cataracts, respectively. Conclusion: Despite the growing research from Tunisia, Morocco, Egypt and South Africa, Sub-Saharan Africa remains almost a virgin region to explore the genetics of eye diseases.

Keywords: inherited eye diseases, Africa, scoping review, longitudinal eye study

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Authors: Seema Garcha, Sheetal Chopra, Navraj Sarao

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Plant hormones play a role in internal colonization by beneficial microbes and also systemic acquired resistance. They define qualitative and quantitative nature of root microbiome and also influence dynamics of root rhizospheric soil. The present study is an attempt to relate salicylic acid (signal molecule) content and qualitative nature of root endophytes at various stages in the growth of rice varieties of commercial value- Parmal 121 and Basmati 1121. Root seedlings of these varieties were raised using tissue culture techniques and then they were transplanted in the fields. Cultivation was done using conventional methods in agriculture. Field soil contained 0.39% N, 75.12 Kg/hectare of phosphorus and 163.0 Kg/hectare of potassium. Microfloral profiling of the root tissue was done using the selective microbiological medium. The salicylic acid content was estimated using HPLC-Agilent 1100 HPLC Series. Salicylic acid level of Basmati 1121 remained relatively low at the time of transplant and 90 days after transplant. It increased marginally at 60 days. A similar trend was observed with Parmal 121 as well. However, Parmal variety recorded 0.935 ug/g of salicylic acid at 60 days after transplant. Salicylic acid content decreased after 90 days as both the rice varieties remained disease free. The endophytic root microflora was established by 60 days after transplant in both the varieties after which their population became constant. Rhizobium spp dominated over Azotobacter spp. Genetic profiling of endophytes for nitrogen-fixing ability is underway.

Keywords: plant-microbe interaction, rice, root microbiome, salicylic acid

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Authors: Hesham Abd Elkhalek, Sherif M. Hafez, Yasser M. El Fahham

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Allocating limited budget to maintain bridge networks and selecting effective maintenance strategies for each bridge represent challenging tasks for maintenance managers and decision makers. In Egypt, bridges are continuously deteriorating. In many cases, maintenance works are performed due to user complaints. The objective of this paper is to develop a practical and reliable framework to manage the maintenance, repair, and rehabilitation (MR&R) activities of Bridges network considering performance and budget limits. The model solves an optimization problem that maximizes the average condition of the entire network given the limited available budget using Genetic Algorithm (GA). The framework contains bridge inventory, condition assessment, repair cost calculation, deterioration prediction, and maintenance optimization. The developed model takes into account multiple parameters including serviceability requirements, budget allocation, element importance on structural safety and serviceability, bridge impact on network, and traffic. A questionnaire is conducted to complete the research scope. The proposed model is implemented in software, which provides a friendly user interface. The framework provides a multi-year maintenance plan for the entire network for up to five years. A case study of ten bridges is presented to validate and test the proposed model with data collected from Transportation Authorities in Egypt. Different scenarios are presented. The results are reasonable, feasible and within acceptable domain.

Keywords: bridge management systems (BMS), cost optimization condition assessment, fund allocation, Markov chain

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Authors: Abdurzag Kerban, Mostfa M. Abou-Ahmed, Abdelrof M. Ghallab, Mona H. Shaker

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Preservation of semen had a major impact on sheep genetic breeding. The aim of this study was to evaluate the effect of protected fat, probiotic and zinc-enriched diets on semen freezability. Twenty two Barki rams were randomly assigned into four groups; Group I (n=5) was fed the basal diet enriched with 3.7% of dry fat/kg concentration/day, Group II (n=5) was fed a basal diet-enriched with 10gm of probiotic /head/day, Group III (n=6) was fed on the basal diet enriched with 100 ppm of 10% zinc chelated with methionine/kg dry matter/day and Group IV (n=6) was served as control. A pool of three to four ejaculates were pooled from rams within a period of ten weeks. Semen was diluted in egg yolk-Tris diluent and processed in 0.25 ml straw. Motility was evaluated after dilution, before freezing and post-thawing at 0, 1, 2 and 3 hour incubation. Viability index, acrosome integrity and leakage of intracellular enzymes (Aspartat aminotransferase and Alkline phosphatase) were also evaluated. Spermatozoa exhibited highly significant (P<0.01) percentages of motility at 0, 1, 2, and 3 hours incubation after thawing, viability index and acrosome integrity in rams fed a diet enriched with protected fat and zinc groups as compared with probiotic and control groups. Also, the mean value of extracellular leakage of AST was significantly lower in fat and zinc group as compared with probiotic and control groups. In conclusion, semen freezability was improved in animals fed a diet fortified with fat and zinc with no significant improvement in animals fed the probiotic-enriched diet.

Keywords: Barki ram semen, freezing, straw, feed additives

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Authors: Kyu Jin Kim, Byung Kwan Oh, Hyo Seon Park

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The seismic responses-based structural health monitoring system has been performed to prevent seismic damage. Structural seismic damage of building is caused by the instantaneous stress concentration which is related with dynamic characteristic of earthquake. Meanwhile, seismic response analysis to estimate the dynamic responses of building demands significantly high computational cost. To prevent the failure of structural members from the characteristic of the earthquake and the significantly high computational cost for seismic response analysis, this paper presents an artificial neural network (ANN) based prediction model for dynamic responses of building considering specific time length. Through the measured dynamic responses, input and output node of the ANN are formed by the length of specific time, and adopted for the training. In the model, evolutionary radial basis function neural network (ERBFNN), that radial basis function network (RBFN) is integrated with evolutionary optimization algorithm to find variables in RBF, is implemented. The effectiveness of the proposed model is verified through an analytical study applying responses from dynamic analysis for multi-degree of freedom system to training data in ERBFNN.

Keywords: structural health monitoring, dynamic response, artificial neural network, radial basis function network, genetic algorithm

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Authors: Sumit Kanwar, Manisha Chand, Gregory Gilot

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Background: Septic arthritis of the shoulder has infrequently been discussed. Focus on infection of the untouched shoulder has not heretofore been described. We present four patients with glenohumeral septic arthritis. Methods: Case 1: A 59 year old male with left shoulder pain in the anterior, posterior and superior aspects. Case 2: A 60 year old male with fever, chills, and generalized muscle aches. Case 3: A 70 year old male with right shoulder pain about the anterior and posterior aspects. Case 4: A 55 year old male with global right shoulder pain, swelling, and limited ROM. Results: In case 1, the left shoulder was affected. Physical examination, swelling was notable, there was global tenderness with a painful range of motion (ROM). The lab values indicated an erythrocyte sedimentation rate (ESR) of 96, and a C-reactive protein (CRP) of 304.30. Imaging studies were performed and MRI indicated a high suspicion for an abscess with osteomyelitis of the humeral head. Our second case’s left arm was affected. He had swelling, global tenderness and painful ROM. His ESR was 38, CRP was 14.9. X-ray showed severe arthritis. Case 3 differed with the right arm being affected. Again, global tenderness and painful ROM was observed. His ESR was 94, and CRP was 10.6. X-ray displayed an eroded glenoid space. Our fourth case’s right shoulder was affected. He had global tenderness and painful, limited ROM. ESR was 108 and CRP was 2.4. X-ray was non-significant. Discussion: Monoarticular septic arthritis of the virgin glenohumeral joint is seldom diagnosed in clinical practice. Common denominators include elevated ESR, painful, limited ROM, and involvement of the dominant arm. The male population is more frequently affected with an average age of 57. Septic arthritis is managed with incision and drainage or needle aspiration of synovial fluid supplemented with 3-6 weeks of intravenous antibiotics. Due to better irrigation and joint visualization, arthroscopy is preferred. Open surgical drainage may be indicated if the above methods fail. Conclusion: If a middle-aged male presents with vague anterior or posterior shoulder pain, elevated inflammatory markers and a low grade fever, an x-ray should be performed. If this displays degenerative joint disease, the complete further workup with advanced imaging, such as an MRI, CT scan, or an ultrasound. If these imaging modalities display anterior space joint effusion with soft tissue involvement, we can suspect septic arthritis of the untouched glenohumeral joint and surgery is indicated.

Keywords: glenohumeral joint, identification, infection, septic arthritis, shoulder

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Authors: Mehdi Nasr Esfahani, Abdal-Rasool Gholamalian, Abdelfattah A. Dababat

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Wheat, Triticum aestivum L. is one of the most important and strategic crops in the human diet. Several diseases threaten this particular crop. Common root rot disease of wheat by a fungal agent, Bipolaris sorokiniana is one of the important diseases, causing considerable losses worldwide. Resistant sources are the only feasible and effective method of control for managing diseases. In this study, the response of 33 domestic and exotic wheat genotypes, including cultivars and promising lines were screened to B. sorokiniana at greenhouse and field conditions, based on five scoring scale indexes of 0 to 100 severity percentage. The screening was continued on resistant wheat genotypes and repeated several times to confirm the greenhouse and field results. Statistical and cluster analysis of data was performed using SAS and SPSS software, respectively. The results showed that, the response of wheat genotypes to the disease in the greenhouse and field conditions was highly significant. The highest rate of common root rot disease infection, B. sorokiniana in the greenhouse and field, was of CVS. Karkheh and Beck Cross-Roshan with 60.83% and 59.16% disease severity respectively, and the lowest one were in cv. Alvand with 18.33%, followed by cv. Baharan with 19.16% disease severity, with a highly significant difference respectively. The remaining wheat genotypes were located in between these two highest and lowest infected groups to B. sorokiniana significantly. There was a high correlation coefficient between the related statistical groups and cluster analysis.

Keywords: wheat, rot, root, crown, fungus, genotype, resistance

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Authors: S. Bahrami, A. Rezaie, Z. Boroumand, S. Ghavami

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Neospora caninum is protozoan parasite which can cause a serious disease in dogs and cattle. It has been shown that birds may be a permissive intermediate host for N. caninum since parasite DNA has been detected in tissues from birds. It is showed that embryonated chicken egg can be used as an animal model for experimental infection. The aim of present study was to compare experimental infection of Neospora in chicken and pigeons embryonated eggs. An infection with N. caninum Nc1 isolate was conducted in chicken and pigeons embryonated eggs to evaluate LD50. After calculation of LD50, 2LD50 of tachyzoites were injected to eggs. Macroscopic changes of each embryo were noticed and to investigate the parasite distribution in tissues immunohistochemistry (IHC) and molecular methods were used. In the present study, histopathological changes were considered and sections to those used for histopathological examination including heart, liver, brain and chorioallantoic (CA) membrane were subjected to IHC, too. For PCR procedure, primer pair Np21/Np6 was used for amplification of the Nc5 gene. Pigeon's embryo showed more macroscopic changes than chicken embryo. A hemorrhage of the CA was the main grass lesion. All the infected tissues had histopathological changes. Microscopic examination of tissues revealed acute neosporosis due to hemorrhage, necrosis and infiltration of mononuclear inflammatory cells. Based on IHC and molecular results, the parasite aggregation in the heart was more predominant than in the other tissues. These results reinforce that there is genetic susceptibility to N. caninum in pigeons embryonated eggs like chickens embryonated eggs and provide new insights to research an inexpensive and available animal model for N. caninum.

Keywords: immunohistochemistry, Neospora caninum, PCR, pigeon embryonated egg

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Authors: Maryam Torabi, Habibi, Abdolahi, Mohammadi, Hassanzadeh, Darban Maghami, Baghi

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Sheeppox Virus (SPPV) and goatpox virus (GTPV) are considerable diseases of sheep, and goats, caused by viruses of the Capripoxvirus (CaPV) genus. They are responsible for economic losses. Animal mortality, morbidity, cost of vaccinations, and restrictions in animal products’ trade are the reasons of economic losses. Control and eradication of CaPV depend on early detection of outbreaks so that molecular detection and genetic analysis could be effective to this aim. This study was undertaken to molecularly characterize SPPV and GTPV strains that have been circulating in Iran. 120 skin papules and nodule biopsies were collected from different regions of Iran and were examined for SPPV, GTPV viruses using TaqMan Real -Time PCR. Some of these amplified genes were sequenced, and phylogenetic trees were constructed. Out of the 120 samples analysed, 98 were positive for CaPV by Real- Time PCR (81.6%), and most of them wereSPPV. then 10 positive samples were sequenced and characterized by amplifying the ORF 103CaPV gene. sequencing and phylogenetic analysis for these positive samples revealed a high percentage of identity with SPPV isolated from different countries in Middle East. In conclusions, molecular characterization revealed nearly complete identity with all recent SPPVs strains in local countries that requires further studies to monitor the virus evolution and transmission pathways to better understand the virus pathobiology that will help for SPPV control.

Keywords: molecular epidemiology, Real-Time PCR, phylogenetic analysis, capripoxviruses

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Authors: Kiran Nawaz, Ahmad Ali Shahid, Sehrish Iftikhar, Waheed Anwar, Muhammad Nasir Subhani

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Chili (Solanum annum L.) attacks by many fungal pathogens, including members of Oomycetes which are responsible for root rot in different chili growing areas of the world. Oomycetes pathogens cause economic losses in different regions of the Pakistan. Most of the plant tissues, including roots, crowns, fruit, and leaves, are vulnerable to Phytophthora capsici. It is very difficult to manage the Phytophthora root rot of chili as many commercial varieties are tremendously vulnerable to P. capsici. The causal agent of the disease was isolated on corn meal agar (CMA) and identified on a morphological basis by using available taxonomic keys. The pathogen was also confirmed on the molecular basis through internal transcribed spacer region and with other molecular markers.The Blastn results showed 100% homology with already reported sequences of P. capsici in NCBI database. Most of the farmers have conventionally relied on foliar fungicide applications to control Phytophthora root rot in spite of their incomplete effectiveness. In this study, in vitro plate assay, seed soaking and foliar applications of 6 fungicides were evaluated against root rot of chili. In vitro assay revealed that significant inhibition of linear growth was obtained with Triflumizole at 7.0%, followed by Thiophanate methyl (8.9%), Etridiazole (6.0%), Propamocarb (5.9%) and 7.5% with Mefenoxam and Iprodione for P. capsici. The promising treatments of in vitro plate bioassay were evaluated in pot experiments under controlled conditions in the greenhouse. All fungicides were applied after at 6-day intervals. Results of pot experiment showed that all treatments considerably inhibited the percentage of P. capsici root rot incidence. In addition, application of seed soaking with all six fungicides combined with the foliar spray of the same components showed the significant reduction in root rot incidence. The combine treatments of all fungicides as in vitro bioassay, seed soaking followed by foliar spray is considered non-harmful control methods which have advantages and limitation. Hence, these applications proved effective and harmless for the management of soil-borne plant pathogens.

Keywords: blastn, bioassay, corn meal agar(CMA), oomycetes

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Authors: Frikha Rim, Abdelmoula Bouayed Nouha, Rebai Tarek

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Pregnancy is a hypercoagulable state which causing a defective maternal haemostatic response and leading to thrombosis of the uteroplacental vasculature, that might cause pregnancy complications as recurrent pregnancy loss (RPL). Since heritable Thrombophilic defects are associated with increased thrombosis, their prevalence was evaluated in patients with special emphasis on combinations of the above pathologies. Especially, Factor V Leiden (FVL) G1691A, methylene tetra hydro folate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, which might be related to recurrent pregnancy loss (RPL). In this study we evaluated the presence of these three mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR) C677T] amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. Factor V Leiden and Prothrombin mutation were detected respectively in 5.7% and 2.9% of women with particular history of early fetal loss and thrombotic events. Despites the luck of strength of this study, we insist that testing for the most inherited thrombophilia (FVL and FII mutation) should be performed in women with RPL in the context of thrombotic events. Multi-centre collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.

Keywords: thrombophilia, recurrent pregnancy loss, factor V Leiden, prothrombin G20210A, methylene tetra hydro folate reductase

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Authors: Ogbonnaya O. Iroanya, Samson T. Fakorede, Osamudiamen J. Edosa, Hadiat A. Azeez

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The human mitochondrial DNA (mtDNA) is about 17 kbp circular DNA fragments found within the mitochondria together with smaller fragments of 1200 bp known as the control region. Knowledge of variation within populations has been employed in forensic and molecular anthropology studies. The study was aimed at investigating the polymorphic nature of the two hypervariable segments (HVS) of the mtDNA, i.e., HVS1 and HVS2, and to determine the haplogroup distribution among individuals resident in Lagos, Southwestern Nigeria. Peripheral blood samples were obtained from sixty individuals who are not related maternally, followed by DNA extraction and amplification of the extracted DNA using primers specific for the regions under investigation. DNA amplicons were sequenced, and sequenced data were aligned and compared to the revised Cambridge Reference Sequence (rCRS) GenBank Accession number: NC_012920.1) using BioEdit software. Results obtained showed 61 and 52 polymorphic nucleotide positions for HVS1 and HVS2, respectively. While a total of three indels mutation were recorded for HVS1, there were seven for HVS2. Also, transition mutations predominate nucleotide change observed in the study. Genetic diversity (GD) values for HVS1 and HVS2 were estimated to be 84.21 and 90.4%, respectively, while random match probability was 0.17% for HVS1 and 0.89% for HVS2. The study also revealed mixed haplogroups specific to the African (L1-L3) and the Eurasians (U and H) lineages. New polymorphic sites obtained from the study are promising for human identification purposes.

Keywords: hypervariable region, indels, mitochondrial DNA, polymorphism, random match probability

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Authors: O. M. M. Sabry, Abeer M. El Sayed

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The essential oils from the aerial parts and flowers of Haplophyllum tuberculatum (Forsskal) Adr. Juss (Rutaceae) growing in Libya were obtained separately by hydro-distillation using a Clevenger-type apparatus. The essential oils yield were (0.4, 1.5w/w%) respectively based on the dry weight of the plant. The oils were analyzed by GC-MS. Twenty four constituents, amounting to 96.6%, were identified in the oil of the aerial parts. The predominant compounds were among the non oxygenated terpenoids (82.4%) as monoterpene hydrocarbons, represented by sabinen (26.4 %), δ-terpinen (26 %), β-phellandrene (10.4%) and 3-carene (3.86%). Zingiberine (0.4%) and β-sesquiphellandrene (0.12%) were the major sesquiterpene hydrocarbons identified. Oxygenated monoterpenes were represented by eucalyptol (5.5%) and piperitone (5.55%). Twenty six constituents, equivalent to 99.5%, were identified in the oil of the flowers. The dominance of monoterpene hydrocarbons in the flowers oil can be attributed to the high percentage of γ-terpinen (38.44%), β-phellandrene (10.0%), α- phellandrene (2.33%), 3,4-dimethyl-1,5-cyclooctadiene (6.67%), β-myrecene (6.04%), 3-carene (5.43%) and α-pinene (1.3%).While the oxygenated monoterpenes can be contributed to the trans-piperitol (4.67%) and piperitone (2.07%). Sesquiterpene hydrocarbons were not identified in the oil of the flower of H. tuberculatum. Variation in constitution between oils of Libyan H. tuberculatum and that obtained from other countries can be due to both environmental and genetic factors. The essential oils have demonstrated variable antimicrobial activities against certain micro-organisms. Also have revealed marked in vitro cytotoxicity against lung (H1299), liver (HEPG2) carcinoma cell line and variably effective as anti-inflammatory and antioxidant.

Keywords: Halpophyllum tuberculatum, rutaceae, essential oil, antimicrobial, anti-inflammatory, antitumor, antioxidant, Libya

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Authors: Gayathri.G, Hemamalini.A.J, Chandrasekaran.A

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Problem statement: Nutritional deficiency, especially calcium, may lead to poor bone formation and mineralization. Although there are plenty of synthetic supplements available, it is essential to make a calcium rich food supplement accessible to combat calcium deficiency that could be readily prepared at the household level. Thus the current study aimed to formulate and standardize an indigenous low-cost calcium-rich food supplement and to study the impact of supplementation on the bone resorption and formation markers. Methods: A Randomized controlled trial was conducted with 60 subjects distributed equally in control and experimental groups, including perimenopausal and postmenopausal women. A plant-based calcium-rich product was developed and supplemented in form of balls as a midmorning and evening snack by addition of optimized proportions of leaves of Sesbania Grandiflora, seeds of Sesamum indicum, Eleusine coracana, Glycine max, Vigna mungo for a period of 6 months. Postmenopausal and perimenopausal women received 1200mg and 800mg of calcium per day from the supplemented, respectively. Outcome measures like serum calcium; betacrosslaps (bone resorption marker) and total P1NP (bone absorption marker) were assessed after 3 months and after 6 months. Results: There were no significant changes seen in the serum calcium and total P1NP levels (bone formation marker) among the subjects during the supplementation period. The bone resorption marker (betacrosslaps) reduced in all the groups and the reduction (0.32 ± 0.130 ng/ml to 0.25 ± 0.130 ng/ml) was found to be statistically highly significant (p < 0.01) in experimental group of perimenopausal subjects and significant (p < 0.05) in experimental group of postmenopausal subjects (1.11 ± 0.290 ng/ml to 0.42 ± 0.263 ng/ml). Conclusion: With the current severe calcium deficiency in the Indian population, integrating low-cost, calcium-rich native foods that could be readily prepared at household level would be useful in raising the nutritional consumption of calcium, which would, in turn, decrease bone turnover.

Keywords: calcium, sesbania grandiflora, sesamum indicum, eleusine coracana, glycine max, vigna mungo, postmenopause, perimenopause, bone resorption, bone absorption, betacrosslaps, total P1NP

Procedia PDF Downloads 118