Search results for: somatic sequence mutations

Authors: Fatimah Abd Elghani, Raymonde Szargel, Vered Shani, Hazem Safory, Haya Hamza, Mor Savyon, Ruth Rott, Rina Bandopadhyay, Simone Engelender

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Background: PINK1 is a mitochondrial kinase mutated in some familial cases of Parkinson’s disease. Down regulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential. Although PINK1 has a predicted mitochondrial import sequence, it’s cellular, and submitochondrial localization remains unclear, in part because it is rapidly degraded. In this work, we investigated the mechanisms involved in PINK1 degradation and how this may affect PINK1 stability and function, with implications for mitochondrial function in PD. In addition, pharmacological inhibition of proteasome activity was shown to lead to PINK1 accumulation, indicating that PINK1 degradation depends on the ubiquitin-proteasome system (UPS). Methods: Using co-immunoprecipitation assays, we identified E3 ubiquitin ligase SIAH1 as a PINK1-interacting protein in HEK293 cells as well as on rat brain tissues. In addition, we determined the effect of SIAH 1, SIAH2 and Parkin on PINK1 steady-state levels by Western blot analysis, and checked their possibility to ubiquitinate and mediate PINK1 degradation through the proteasome carried out in vivo ubiquitination experiments. Results: We have obtained results showing that SIAH-1 interacts with and ubiquitinates PINK1. The ubiquitination promoted by SIAH-1 leads to the proteasomal degradation of PINK1. We confirmed these findings by knocking down SIAH-1 and observing important accumulation of PINK1 in cells. Besides, we found that SIAH-1 decreases PINK1 steady-state levels but not the E3 ligase Parkin. We also investigated the interaction of SIAH-1 with PINK1 disease mutants and its ability to promote their ubiquitination and degradation. Although, no clear difference in the ability of SIAH-1 to promote the degradation of PINK1 disease mutants was observed. It is possible that dysfunction of proteasomal activity in the disease may lead to the accumulation and aggregation of ubiquitinated PINK1 in patients with PINK1 mutations, with possible implications to the pathogenesis of PD. Conclusions: Here, we demonstrated that SIAH-1 ubiquitinates and promotes the degradation of PINK1. In addition, SIAH-1 represents now a target that may help the improvement of mitophagy in PD. Further investigations needed to understand how mitophagy is regulated by PINK1-SIAH-1 axis to provide targets for future therapeutics.

Keywords: PD, Parkinson's disease, PINK1, PTEN-induced kinase1, SIAH, seven in absentia homolog, SN, substantia nigra

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Authors: Ovidiu Domşa, Nicolae Bold

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Using Information and Communication Technologies (ICT) notions in education and three basic processes of education (teaching, learning and assessment) can bring benefits to the pupils and the professional development of teachers. In this matter, we refer to these notions as concepts taken from the informatics area and apply them to the domain of education. These notions refer to genetic algorithms and arborescent structures, used in the specific process of assessment or evaluation. This paper uses these kinds of notions to generate subtrees from a main tree of tests related between them by their degree of difficulty. These subtrees must contain the highest number of connections between the nodes and the lowest number of missing edges (which are subtrees of the main tree) and, in the particular case of the non-existence of a subtree with no missing edges, the subtrees which have the lowest (minimal) number of missing edges between the nodes, where a node is a test and an edge is a direct connection between two tests which differs by one degree of difficulty. The subtrees are represented as sequences. The tests are the same (a number coding a test represents that test in every sequence) and they are reused for each sequence of tests.

Keywords: chromosome, genetic algorithm, subtree, test

Procedia PDF Downloads 298

Authors: Harveen Kaur Tatla, Parisa Niknejad, Rajender Gupta, Bipro Ranjan Dhar, Mohd. Adana Khan

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Sewage sludge management presents a pressing challenge in the realm of wastewater treatment, calling for sustainable and efficient solutions. This study explores the integration of Hydrothermal Liquefaction (HTL) and Anaerobic Digestion (AD) as a promising approach to address the complexities associated with sewage sludge treatment. The integration of these two processes offers a complementary and synergistic framework, allowing for the mitigation of inherent limitations, thereby enhancing overall efficiency, product quality, and the comprehensive utilization of sewage sludge. In this research, we investigate the optimal sequencing of HTL and AD within the treatment framework, aiming to discern which sequence, whether HTL followed by AD or AD followed by HTL, yields superior results. We explore a range of HTL working temperatures, including 250°C, 300°C, and 350°C, coupled with residence times of 30 and 60 minutes. To evaluate the effectiveness of each sequence, a battery of tests is conducted on the resultant products, encompassing Total Ammonia Nitrogen (TAN), Chemical Oxygen Demand (COD), and Volatile Fatty Acids (VFA). Additionally, elemental analysis is employed to determine which sequence maximizes energy recovery. Our findings illuminate the intricate dynamics of HTL and AD integration for sewage sludge management, shedding light on the temperature-residence time interplay and its impact on treatment efficiency. This study not only contributes to the optimization of sewage sludge treatment but also underscores the potential of integrated processes in sustainable waste management strategies. The insights gleaned from this research hold promise for advancing the field of wastewater treatment and resource recovery, addressing critical environmental and energy challenges.

Keywords: Anaerobic Digestion (AD), aqueous phase, energy recovery, Hydrothermal Liquefaction (HTL), sewage sludge management, sustainability.

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Authors: Harsh Panchal, Saurabh Amrutkar

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Quality management is an essential part of any project that has directly related to the performance of a project. Quality management is depended on multiple factors at different stages in a project, right from time management to construction logistics. A project is a mixture of various components that include iternary management, health and safety, crew productivity, and many more. From the survey conducted, we came to the conclusion that advancement in technology and indigenous approach to any project will result in maximum quality standards and better project performance. In this paper, we discuss various components of the factors above that lead to compromise the quality of a project and how it can be controlled in order to achieve maximum quality assurance using quality planning and total quality management. The paper also focuses on limitations and problems faced in each factor responsible for quality management and to tackle them using techniques and processes based on activities and identifying the sequence, approaching critical path, and duration. The project management concept that deals with the sequence of scope cost time give us an overview regarding the ongoing quality management, in a nutshell, giving us hints to regulate the current procedure for maximum achievable quality. It also deals with the problems faced by engineers that make the mundane work process slow, reducing the quality outcome drastically.

Keywords: management, performance, project, quality

Procedia PDF Downloads 130

Authors: Sabeen Alam, Mehboob Alam

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The research work entitled “Effect of Bacillus pumilus strains on heavy metal accumulation in lettuce grown on contaminated soil” focused on functional role of Bacillus pumilus strains inoculated with lettuce seed in mitigating heavy metal in chromite mining soil. In this experiment, factor A was three Bacillus pumilus strains (sequence C-2PMW-8, C-1 SSK-8 and C-1 PWK-7) while soil used for this experiment was collected from Prang Ghar mining site and lettuce seeds were grown in three levels of chromite mining soil (2.27, 4.65 and 7.14 %). For mining soil minimum days to germinate noted in lettuce grown on garden soil inoculated with sequence. Maximum germination percentage noted was for C-1 SSK-8 grown on garden soil, maximum lettuce height for sequence C-2 PWM-8, fresh leaf weight for C-1 PWK-7 inoculated lettuce, dry weight of lettuce leaf for lettuce inoculated with C-1 SSK-8 and C-1 PWK-7 strains, number of leaves per plant for lettuce inoculated with C-1 SSK-8, leaf area for C-2 PMW-8 inoculated lettuce, survival percentage for C-1 SSK-8 treated lettuce and chlorophyll content for C-2 PMW-8. Results related to heavy metals accumulation showed that minimum chromium was in lettuce and in soil for all three sequences, cadmium (Cd) in lettuce and in soil for all three sequences, manganese (Mn) in lettuce and in soil for three sequences, lead (Pb) in lettuce and in soil for three sequences. It can be concluded that chromite mining soil significantly reduced the growth and survival of lettuce, but when lettuce was inoculated with Bacillus.pumilus strains, it enhances growth and survival. Similarly, minimum heavy metal accumulation in plant and soil, regardless of type of Bacillus pumilus used, all three sequences has same mitigating effect on heavy metal in both soil and lettuce. All the three Bacillus pumilus strains ensured reduction in heavy metals content (Mn, Cd, Cr) in lettuce, below the maximum permissible limits of WHO 2011.

Keywords: bacillus pumilus, heavy metals, permissible limits, lettuce, chromite mining soil, mitigating effect

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Authors: Isabelle Snyder

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Microgrid protection presents challenges to conventional protection techniques due to the low induced fault current. Protection relays present in microgrid applications require a combination of settings groups to adjust based on the architecture of the microgrid in islanded and grid-connected mode. In a radial system where the microgrid is at the other end of the feeder, directional elements can be used to identify the direction of the fault current and switch settings groups accordingly (grid connected or microgrid connected). However, with multiple microgrid connections, this concept becomes more challenging, and the direction of the current alone is not sufficient to identify the source of the fault current contribution. ORNL has previously developed adaptive relaying schemes through other DOE-funded research projects that will be evaluated and used as a baseline for this research. The four protection techniques in this study are the following: (1) Adaptive Current only Protection System (ACPS), Intentional (2) Unbalanced Control for Protection Control (IUCPC), (3) Adaptive Protection System with Communication Controller (APSCC) (4) Adaptive Model-Driven Protective Relay (AMDPR). The first two methods focus on identifying the islanded mode without communication by monitoring the current sequence component generated by the system (ACPS) or induced with inverter control during islanded mode (IUCPC) to identify the islanding condition without communication at the relay to adjust the settings. These two methods are used as a backup to the APSCC, which relies on a communication network to communicate the islanded configuration to the system components. The fourth method relies on a short circuit model inside the relay that is used in conjunction with communication to adjust the system configuration and computes the fault current and adjusts the settings accordingly.

Keywords: adaptive relaying, microgrid protection, sequence components, islanding detection, communication controlled protection, integrated short circuit model

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Authors: Sinethemba Yakobi, Lindiwe Zuma, Ofentse Pooe

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Gonococcal infections present a notable public health issue, and the major approach for treatment involves using β-lactam antibiotics that specifically target penicillin-binding protein 2 (PBP2) in Neisseria gonorrhoeae. This study examines the influence of flavonoids, namely rutin, on the structural changes of PBP2 in both penicillin-resistant (FA6140) and penicillin-susceptible (FA19) strains. The research clarifies the structural effects of particular mutations, such as inserting an aspartate residue at position 345 (Asp-345a) in the PBP2 protein. The strain FA6140, which is resistant to penicillin, shows specific changes that lead to a decrease in penicillin binding. These mutations, namely P551S and F504L, significantly impact the pace at which acylation occurs and the stability of the strain under high temperatures. Molecular docking analyses investigate the antibacterial activities of rutin and other phytocompounds, emphasizing its exceptional binding affinity and potential as an inhibitor of PBP2. Quercetin and protocatechuic acid have encouraging antibacterial effectiveness, with quercetin displaying characteristics similar to those of drugs. Molecular dynamics simulations offer a detailed comprehension of the interactions between flavonoids and PBP2, highlighting rutin's exceptional antioxidant effects and strong affinity for the substrate binding site. The study's wider ramifications pertain to the pressing requirement for antiviral treatments in the context of the ongoing COVID-19 epidemic. Flavonoids have a strong affinity for binding to PBP2, indicating their potential as inhibitors to impair cell wall formation in N. gonorrhoeae. Ultimately, this study provides extensive knowledge on the interactions between proteins and ligands, the dynamics of the structure, and the ability of flavonoids to combat penicillin-resistant N. gonorrhoeae bacteria. The verified simulation outcomes establish a basis for creating potent inhibitors and medicinal therapies to combat infectious illnesses.

Keywords: phytochemicals, penicillin-binding protein 2, gonococcal infection, ligand-protein interaction, binding energy, neisseria gonorrhoeae FA19, neisseria gonorrhoeae FA6140, flavonoids

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Authors: Ozlem Oral, Emre Taskin, Aysel Yuce, Serap Dokmeci, Devrim Gozuacik

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Autophagy is an evolutionary conserved lysosome-dependent catabolic pathway, responsible for the degradation of long-lived proteins, abnormal aggregates and damaged organelles which cannot be degraded by the ubiquitin-proteasome system. Lysosomes degrade the substrates through the activity of lysosomal hydrolases and lysosomal membrane-bound proteins. Mutations in the coding region of these proteins cause malfunctional lysosomes, which contributes to the pathogenesis of lysosomal storage diseases. Gaucher disease is a lysosomal storage disease resulting from the mutation of a lysosomal membrane-associated glycoprotein called glucocerebrosidase and its cofactor saposin C. The disease leads to intracellular accumulation of glucosylceramide and other glycolipids. Because of the essential role of lysosomes in autophagic degradation, Gaucher disease may directly be linked to this pathway. In this study, we investigated the expression of autophagy and/or lysosome-related genes and proteins in fibroblast cells isolated from patients with different mutations. We carried out confocal microscopy analysis and examined autophagic flux by utilizing the differential pH sensitivities of RFP and GFP in mRFP-GFP-LC3 probe. We also evaluated lysosomal pH by active lysosome staining and lysosomal enzyme activity. Beside lysosomes, we also performed proteasomal activity and cell death analysis in patient samples. Our data showed significant attenuation in the expression of key autophagy-related genes and accumulation of their proteins in mutant cells. We found decreased the ability of autophagosomes to fuse with lysosomes, associated with elevated lysosomal pH and reduced lysosomal enzyme activity. Proteasomal degradation and cell death analysis showed reduced proteolytic activity of the proteasome, which consequently leads to increased susceptibility to cell death. Our data indicate that the major degradation pathways are affected by multifunctional lysosomes in mutant patient cells and may underlie in the mechanism of clinical severity of Gaucher patients. (This project is supported by TUBITAK-3501-National Young Researchers Career Development Program, Project No: 112T130).

Keywords: autophagy, Gaucher's disease, glucocerebrosidase, mutant fibroblasts

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Authors: Jun Ren, Zhen-Hua Ming, He-Feng Huang, Jian-Zhong Sheng

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Adverse intrauterine stimulus during critical or sensitive periods in early life, may lead to health risk not only in later life span, but also further generations. Intrauterine hyperglycaemia, as a major feature of gestational diabetes mellitus (GDM), is a typical adverse environment for both F1 fetus and F1 gamete cells development. However, there is scare information of phenotypic difference of metabolic memory between somatic cells and germ cells exposed by intrauterine hyperglycaemia. The direct transmission effect of intrauterine hyperglycaemia per se has not been assessed either. In this study, we built a GDM mice model and selected male GDM offspring without pre-diabetic phenotype as our founders, to exclude postnatal diabetic influence on gametes, thereby investigate the direct transmission effect of intrauterine hyperglycaemia exposure on F2 offspring, and we further compared the metabolic difference of affected F1-GDM male offspring and F2 offspring. A GDM mouse model of intrauterine hyperglycemia was established by intraperitoneal injection of streptozotocin after pregnancy. Pups of GDM mother were fostered by normal control mothers. All the mice were fed with standard food. Male GDM offspring without metabolic dysfunction phenotype were crossed with normal female mice to obtain F2 offspring. Body weight, glucose tolerance test, insulin tolerance test and homeostasis model of insulin resistance (HOMA-IR) index were measured in both generations at 8 week of age. Some of F1-GDM male mice showed impaired glucose tolerance (p < 0.001), none of F1-GDM male mice showed impaired insulin sensitivity. Body weight of F1-GDM mice showed no significance with control mice. Some of F2-GDM offspring exhibited impaired glucose tolerance (p < 0.001), all the F2-GDM offspring exhibited higher HOMA-IR index (p < 0.01 of normal glucose tolerance individuals vs. control, p < 0.05 of glucose intolerance individuals vs. control). All the F2-GDM offspring exhibited higher ITT curve than control (p < 0.001 of normal glucose tolerance individuals, p < 0.05 of glucose intolerance individuals, vs. control). F2-GDM offspring had higher body weight than control mice (p < 0.001 of normal glucose tolerance individuals, p < 0.001 of glucose intolerance individuals, vs. control). While glucose intolerance is the only phenotype that F1-GDM male mice may exhibit, F2 male generation of healthy F1-GDM father showed insulin resistance, increased body weight and/or impaired glucose tolerance. These findings imply that intrauterine hyperglycaemia exposure affects germ cells and somatic cells differently, thus F1 and F2 offspring demonstrated distinct metabolic dysfunction phenotypes. And intrauterine hyperglycaemia exposure per se has a strong influence on F2 generation, independent of postnatal metabolic dysfunction exposure.

Keywords: inheritance, insulin resistance, intrauterine hyperglycaemia, offspring

Procedia PDF Downloads 219

Authors: Harsh Vikram Singh, Ankur Rai, Anand Mohan

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In this paper, we propose secure and robust data hiding algorithm based on DCT by Arnold transform and chaotic sequence. The watermark image is scrambled by Arnold cat map to increases its security and then the chaotic map is used for watermark signal spread in middle band of DCT coefficients of the cover image The chaotic map can be used as pseudo-random generator for digital data hiding, to increase security and robustness .Performance evaluation for robustness and imperceptibility of proposed algorithm has been made using bit error rate (BER), normalized correlation (NC), and peak signal to noise ratio (PSNR) value for different watermark and cover images such as Lena, Girl, Tank images and gain factor .We use a binary logo image and text image as watermark. The experimental results demonstrate that the proposed algorithm achieves higher security and robustness against JPEG compression as well as other attacks such as addition of noise, low pass filtering and cropping attacks compared to other existing algorithm using DCT coefficients. Moreover, to recover watermarks in proposed algorithm, there is no need to original cover image.

Keywords: data hiding, watermarking, DCT, chaotic sequence, arnold transforms

Procedia PDF Downloads 487

Authors: Dwi Arisandi Wijaya, Ernawati Arifin Giri-Rachman, Neni Nurainy

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Typhoid fever disease can be prevented by using a polysaccharide-based vaccine Vi which is a virulence factor of S.typhi. To produce high yield Vi polysaccharide from bacteria, it is important to know the biosynthesis of Vi polysaccharide and the regulators involved. In the In vivo condition, S. typhi faces different osmolarity, and the bacterial two-component system OmpR-EnvZ, regulate by up and down Capsular Vi polysaccharide biosynthesis. A high yielded Vi Polysaccharide strain, S. typhi strain C6524 used to study the effect of media osmolarity on Vi polysaccharide biosynthesis and the osmoregulation pattern of S. typhi strain C6524. The methods were performed by grown S. typhi strain C6524 grown on medium with 50 mM, 100 mM, and 150 mM osmolarity with the batch system. Vi polysaccharide concentration was measured by ELISA method. For further investigation of the osmoregulation pattern of strain C6524, the osmoregulator gene, OmpR, has been isolated and sequenced using the specific primer of the OmpR gene. Nucleotide sequence analysis is done with BLAST and Lallign. Amino Acid sequence analysis is done with Prosite and Multiple Sequence Alignment. The results of cultivation showed the average content of polysaccharide Vi for 50 mM, 100 mM, and 150 mM osmolarities 11.49 μg/mL, 12.06 μg/mL, and 14.53 μg/mL respectively. Analysis using Anova stated that the osmolarity treatment of 150 mM significantly affects Vi content. Analysis of nucleotide sequences shows 100% identity between S. typhi strain C6524 and Ty2. Analysis of amino acid sequences shows that the OmpR response regulator protein of the C6524 strain also has a α4-β5-α5 motif which is important for the regulatory activation system when phosphorylation occurs by domain kinase. This indicates that the regulator osmolarity response of S. typhi strain C6524 has no difference with the response regulator owned by S. typhi strain Ty2. A high Vi response rate in the 150 mM osmolarity treatment requires further research for RcsB-RcsC, another two-component system involved in Vi Biosynthesis.

Keywords: osmoregulator, OmpR, Salmonella, Vi polysaccharide

Procedia PDF Downloads 166

Authors: Moneesh Thakur, Hridayesh Prasad, Nikitasha Bora, Parimal Roy Choudhary, A. K. Samanta, Sanjeev Kumar

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Canine demodicosis is a common parasitic condition which involves dog skin. Demodicosis in dogs is due the prominent growth of Demodex. Out of various canine Demodex spp., Demodex canis is the most often involved species. Canine demodicosis can occur as either a localized or generalized form of demodicosis severely affect the dogs and in non-treated dogs may cause death. This study was planned with the aim to screen and characterize the 18S rRNA gene of isolated Demodex canis. A total of 1200 dogs were screened during this study period. The skin scrapings of all the suspected dogs were examined under a microscope at 100X magnification for the presence of Demodex canis. The skin scrapings positive for Demodex canis were examined using PCR for confirmation. A total of 35 dogs were confirmed a positive result for D. canis based on 18S rRNA gene amplification by PCR. Further, the 18S rRNA gene of isolated Demodex canis was cloned and sequenced for genome analysis. On the sequence analysis, it was found that isolated sequence (GenBank Accession No. MK177513) had close similarity (99.7%) to that of D. canis genotype of China (Accession No. MG372254).

Keywords: PCR, phylogenetic analysis, cloning and sequening, Demodex canis

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Authors: Girma Yohannis Bade, Olga Kolesnikova, Grigori Sidorov

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Named entity recognition (NER) is a building block for information extraction. Though the information extraction process has been automated using a variety of techniques to find and extract a piece of relevant information from unstructured documents, the discovery of targeted knowledge still poses a number of research difficulties because of the variability and lack of structure in Web data. NER, a subtask of information extraction (IE), came to exist to smooth such difficulty. It deals with finding the proper names (named entities), such as the name of the person, country, location, organization, dates, and event in a document, and categorizing them as predetermined labels, which is an initial step in IE tasks. This survey paper presents the roles and importance of NER to IE from the perspective of different algorithms and application area domains. Thus, this paper well summarizes how researchers implemented NER in particular application areas like finance, medicine, defense, business, food science, archeology, and so on. It also outlines the three types of sequence labeling algorithms for NER such as feature-based, neural network-based, and rule-based. Finally, the state-of-the-art and evaluation metrics of NER were presented.

Keywords: the role of NER, named entity recognition, information extraction, sequence labeling algorithms, named entity application area

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Authors: Mahmoud Farrag, Alaa Elhaweet, El-Sayed Akel, Mohsen Moustafa

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The present work aimed to study the reproductive strategy of the common lesspsian puffer fish Lagocephalus sceleratus (Gmeln, 1879) from the Egyptian Mediterranean Waters. It is a famous migratory species plays an important role in the field of fisheries and ecology of aquatic ecosystem. The obtained results illustrated seven maturity stages of gonads as; I- Thread like stage: II- Immature stage (Virgin stage), III- Maturing stage (Developing Virgin and recovering spent), IV - Nearly ripe stage, V- Fully ripe; VI-Spawning stage, VII- Spent stage. Sex ratio, exhibited males had higher number than females representing 52.44 % of the total fishes with sex ratio 1: 0.91. Fish length corresponding to 50% maturation was 38.5 cm for males and 41 cm for females. The corresponding ages (age at first maturity) are equal to 2.14 and 2.27 years for male and female respectively. The gonado somatic index (GSI) increased from April for both sexes with peak in June (8.567±4.729) for males and May (6.769±4.662) for females, then the sharp decrease was observed in October showing prolong spawning season from April to September for both sexes. The hepato somatic indices (HSI) for males were lower values than those of females, it were high from December to early spawning (April & May), with the peak in April (5.217 ± 2.167) for males, and in March (5.453± 1.792) for females, then these values started to decrease towards the end of spawning period. The ova diameter ranged from 0.02 to 0.85mm, the mature ova ranged from 0.16 to 0.85mm and showed progressive increase from April towards September during spawning period introducing one peak of mature and ripe eggs. The absolute fecundity increased as the fish grew in weight and length; it was ranged from 260288 to 2372931 for fish weight and ranged from 698 to 3285 cm for length with an average of 1449522±720975. The relative fecundity ranged from 373 to 722 for fish weight with an average of 776±231, while it range from 5784 to 32957 for fish length groups ranged from 43-45 to 70-72 cm with an average of 24478 ±10011 eggs. Histological characters of gonads during the year of study indicating this fish species has prolonged spawning season from April to September where ripe oocytes were observed during this period. This species is considered totally or uni spawner with synchronous group as it contained one to two developmental stages at the same gonad and releases its ripe ova in one batch during the spawning season. These results illustrated more adaptation of this species in new habitat.

Keywords: reproductive biology, histology, Lagocephalus sceleratus, Mediterranean Sea, Egypt

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Authors: Manar Makhoul, Buthainah Alsalamah, Salam Lawand, Hassan Azzam

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The major storage proteins in endosperm of 33 cultivated and wild barley genotypes (H.vulgare, H. spontaneum, H. bulbosum, H. murinum, H. marinum) were analyzed to demonstrate the variation in the hordein polypeptides encoded by multigene families in grains. The SDS-PAGE revealed 13 and 17 alleles at the Hor1 and the Hor2 loci respectively, with frequencies from 0.83 to 14 and 0.56 to 13.41% respectively, while seven alleles at the Hor3 locus with frequencies from 3.63 to 30.91% were recognized. The phylogenetic analysis indicated to relevance of the polymorphism in hordein patterns as successful tool in identifying the individual genotypes and discriminating the species according to genome type. We also reported in this research complete nucleotide sequence B-hordein genes of seven wild and cultivated barley genotypes. A 152bp upstream sequence of B-hordein promoter contained a TATA box, CATC box, AAAG motif, N-motif and E-motif. In silico analysis of B-Hordein sequences demonstrated that the coding regions were not interrupted by any intron, and included the complete ORF which varied between 882 and 906 bp, and encoded mature proteins with 293-301 residues characterized by high contents of glutamine (29%), and proline (18%). Comparison of the predicted polypeptide sequences with the published ones suggested that all S-rich prolamins genes are descended from common ancestor. The sequence started at N-terminal with a signal peptide, and then followed directly by two domains; a repetitive one based on the repetition of the repeat unit PQQPFPQQ and C-terminal domain. Also, it was found that positions of the eight cysteine residues were highly conserved in all the B-hordein sequences, but Hordeum bulbosum had additional unpaired one. The phylogenetic tree of B-hordein polypeptide separated the genotypes in distinct seven subgroups. In general, the high homology between B-hordeins and LMW glutenin subunits suggests similar bread-making influences for these B-hordeins.

Keywords: hordeum, phylogenetic tree, sequencing, storage protein

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Authors: Debamitra Chakravorty, Pratap K. Parida

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Cold-adapted proteases enhance wash performance in low-temperature laundry resulting in a reduction in energy consumption and wear of textiles and are also used in the dehairing process in leather industries. Unfortunately, the possible drawbacks of using cold-adapted proteases are their instability at higher temperatures. Therefore, proteases with broad temperature stability are required. Unfortunately, wild-type cold-adapted proteases exhibit instability at higher temperatures and thus have low shelf lives. Therefore, attempts to engineer cold-adapted proteases by protein engineering were made previously by directed evolution and random mutagenesis. The lacuna is the time, capital, and labour involved to obtain these variants are very demanding and challenging. Therefore, rational engineering for cold stability without compromising an enzyme's optimum pH and temperature for activity is the current requirement. In this work, mutations were rationally designed with the aid of high throughput computational methodology of network analysis, evolutionary conservation scores, and molecular dynamics simulations for Savinase from Bacillus lentus with the intention of rendering the mutants cold stable without affecting their temperature and pH optimum for activity. Further, an attempt was made to incorporate a mutation in the most stable mutant rationally obtained by this method to introduce oxidative stability in the mutant. Such enzymes are desired in detergents with bleaching agents. In silico analysis by performing 300 ns molecular dynamics simulations at 5 different temperatures revealed that these three mutants were found to be better in cold stability compared to the wild type Savinase from Bacillus lentus. Conclusively, this work shows that cold adaptation without losing optimum temperature and pH stability and additionally stability from oxidative damage can be rationally designed by in silico enzyme engineering. The key findings of this work were first, the in silico data of H5 (cold stable savinase) used as a control in this work, corroborated with its reported wet lab temperature stability data. Secondly, three cold stable mutants of Savinase from Bacillus lentus were rationally identified. Lastly, a mutation which will stabilize savinase against oxidative damage was additionally identified.

Keywords: cold stability, molecular dynamics simulations, protein engineering, rational design

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Authors: Avent Grange, Frederic Bertrand, Jean-Baptiste Droin, Amandine Marrel, Jean-Henry Ferrasse, Olivier Boutin

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CEA and its industrial partners are designing a gas Power Conversion System (PCS) based on a Brayton cycle for the ASTRID Sodium-cooled Fast Reactor. Investigations of control and regulation requirements to operate this PCS during operating, incidental and accidental transients are necessary to adapt core heat removal. To this aim, we developed a methodology to optimize the thermal-hydraulic behavior of the reactor during normal operations, incidents and accidents. This methodology consists of a multi-objective optimization for a specific sequence, whose aim is to increase component lifetime by reducing simultaneously several thermal stresses and to bring the reactor into a stable state. Furthermore, the multi-objective optimization complies with safety and operating constraints. Operating, incidental and accidental sequences use specific regulations to control the thermal-hydraulic reactor behavior, each of them is defined by a setpoint, a controller and an actuator. In the multi-objective problem, the parameters used to solve the optimization are the setpoints and the settings of the controllers associated with the regulations included in the sequence. In this way, the methodology allows designers to define an optimized and specific control strategy of the plant for the studied sequence and hence to adapt PCS piloting at its best. The multi-objective optimization is performed by evolutionary algorithms coupled to surrogate models built on variables computed by the thermal-hydraulic system code, CATHARE2. The methodology is applied to a loss of off-site power sequence. Three variables are controlled: the sodium outlet temperature of the sodium-gas heat exchanger, turbomachine rotational speed and water flow through the heat sink. These regulations are chosen in order to minimize thermal stresses on the gas-gas heat exchanger, on the sodium-gas heat exchanger and on the vessel. The main results of this work are optimal setpoints for the three regulations. Moreover, Proportional-Integral-Derivative (PID) control setting is considered and efficient actuators used in controls are chosen through sensitivity analysis results. Finally, the optimized regulation system and the reactor control procedure, provided by the optimization process, are verified through a direct CATHARE2 calculation.

Keywords: gas power conversion system, loss of off-site power, multi-objective optimization, regulation, sodium fast reactor, surrogate model

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Authors: Rizka Ardhiyana, Liesbetini Haditjaroko, Sri Mulijani, Reki Ashadi Wicaksono, Raafqi Ranasasmita

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Designing a sensitive, specific and easy to use method to detect pork contamination in the food industry remains a major challenge. In the current study, we developed a sensitive thiol-bond AuNP-Probe biosensor that will change color when detecting pork DNA in the Cytochrome B region. The interaction between the biosensors and DNA sample is measured by spectrophotometer at 540 nm. The biosensor is made by reducing gold with trisodium citrate to produce gold nanoparticle with 39.05 nm diameter. The AuNP-Probe biosensor (gold nanoprobe) achieved 16.04 ng DNA/µl limit of detection and 53.48 ng DNA/µl limit of quantification. The linearity (R2) between color absorbance changes and DNA concentration is 0.9916. The biosensor has a good specificty as it does not cross-react with DNA of chicken and beef. To verify specificity towards the target sequence, PCR was tested to the target sequence and reacted to the PCR product with the biosensor. The PCR DNA isolate resulted in a 2.7 fold higher absorbance compared to pork-DNA isolate alone (without PCR). The sensitivity and specificity of the method show the promising application of the thiol-bond AuNP biosensor in pork-detection.

Keywords: biosensor, DNA probe, gold nanoparticle (AuNP), pork meat, qPCR

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Authors: Shin-Pin Tseng

Abstract:

Nowadays, numerous spectral amplitude coding (SAC) fiber-optic code-division-multiple-access (FO-CDMA) techniques were appealing due to their capable of providing moderate security and relieving the effects of multiuser interference (MUI). Nonetheless, the performance of the previous network is degraded due to fixed in-phase cross-correlation (IPCC) value. Based on the above problems, a new SAC FO-CDMA network using partial M-sequence (PMS) code is presented in this study. Because the proposed PMS code is originated from M-sequence code, the system using the PMS code could effectively suppress the effects of MUI. In addition, two-code keying (TCK) scheme can applied in the proposed SAC FO-CDMA network and enhance the whole network performance. According to the consideration of system flexibility, simple optical encoders/decoders (codecs) using fiber Bragg gratings (FBGs) were also developed. First, we constructed a diagram of the SAC FO-CDMA network, including (N/2-1) optical transmitters, (N/2-1) optical receivers, and one N×N star coupler for broadcasting transmitted optical signals to arrive at the input port of each optical receiver. Note that the parameter N for the PMS code was the code length. In addition, the proposed SAC network was using superluminescent diodes (SLDs) as light sources, which then can save a lot of system cost compared with the other FO-CDMA methods. For the design of each optical transmitter, it is composed of an SLD, one optical switch, and two optical encoders according to assigned PMS codewords. On the other hand, each optical receivers includes a 1 × 2 splitter, two optical decoders, and one balanced photodiode for mitigating the effect of MUI. In order to simplify the next analysis, the some assumptions were used. First, the unipolarized SLD has flat power spectral density (PSD). Second, the received optical power at the input port of each optical receiver is the same. Third, all photodiodes in the proposed network have the same electrical properties. Fourth, transmitting '1' and '0' has an equal probability. Subsequently, by taking the factors of phase‐induced intensity noise (PIIN) and thermal noise, the corresponding performance was displayed and compared with the performance of the previous SAC FO-CDMA networks. From the numerical result, it shows that the proposed network improved about 25% performance than that using other codes at BER=10-9. This is because the effect of PIIN was effectively mitigated and the received power was enhanced by two times. As a result, the SAC FO-CDMA network using PMS codes has an opportunity to apply in applications of the next-generation optical network.

Keywords: spectral amplitude coding, SAC, fiber-optic code-division multiple-access, FO-CDMA, partial M-sequence, PMS code, fiber Bragg grating, FBG

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Authors: Aliyah Penn, Vasiliki Machairaki, Constance Smith-hicks, Sarven Sabunciyan, Lena Smirnova

Abstract:

Rare neurodevelopmental disorders (RNDDs) encompass a spectrum of conditions affecting a minority of the global population yet pose significant challenges due to their heterogeneity and limited understanding. Among these disorders, SYNGAP1 mutations contribute to a range of cognitive impairments, autism spectrum disorder (ASD), and epilepsy. Despite its rarity, SYNGAP1-Intellectual Disability disorder manifests with varying severity, underscoring the need for improved insights into their underlying biological mechanisms. This research project aims to elucidate the molecular pathways driving the heterogeneous disease severity observed in individuals with SYNGAP1 mutations. Employing a multi-faceted approach, we first characterize SYNGAP1-induced pluripotent stem cells (iPSCs) and iPSC-derived brain organoids, comparing them with familial neurotypically-developed (NTD) controls. Subsequently, we identify molecular signatures of intellectual disability (ID) and epilepsy using RNA sequencing, shedding light on the pathological mechanisms underlying these conditions. Finally, we evaluate and establish a SYNGAP1 seizure model, leveraging MaxWell high-density micro-electrode array (HD-MEA) recordings to assess electrical activity and synaptic function in SYNGAP-ID patients with different intensity of seizures. This comprehensive approach aims to enhance our understanding of SYNGAP1-related disorders and pave the way for personalized treatment strategies tailored to individual patients.

Keywords: SYNGAP, autism, organoids, neurodevelopment

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Authors: Kuei-Ling Sun, Emily Chia-Yu Su

Abstract:

Allergy is a hypersensitive overreaction of the immune system to environmental stimuli, and a major health problem. These overreactions include rashes, sneezing, fever, food allergies, anaphylaxis, asthmatic, shock, or other abnormal conditions. Allergies can be caused by food, insect stings, pollen, animal wool, and other allergens. Their development of allergies is due to both genetic and environmental factors. Allergies involve immunoglobulin E antibodies, a part of the body’s immune system. Immunoglobulin E antibodies will bind to an allergen and then transfer to a receptor on mast cells or basophils triggering the release of inflammatory chemicals such as histamine. Based on the increasingly serious problem of environmental change, changes in lifestyle, air pollution problem, and other factors, in this study, we both collect allergens and non-allergens from several databases and use several machine learning methods for classification, including logistic regression (LR), stepwise regression, decision tree (DT) and neural networks (NN) to do the model comparison and determine the permutations of allergen amino acid’s sequence.

Keywords: allergy, classification, decision tree, logistic regression, machine learning

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Authors: Xiaoqin Wang, Li Yin

Abstract:

Background and purpose: In many practices, one estimates causal effects arising from a complex stochastic process, where a sequence of treatments are assigned to influence a certain outcome of interest, and there exist time-dependent covariates between treatments. When covariates are plentiful and/or continuous, statistical modeling is needed to reduce the huge dimensionality of the problem and allow for the estimation of causal effects. Recently, Wang and Yin (Annals of statistics, 2020) derived a new general formula, which expresses these causal effects in terms of the point effects of treatments in single-point causal inference. As a result, it is possible to conduct the modeling via point effects. The purpose of the work is to study the modeling of these causal effects via point effects. Challenges and solutions: The time-dependent covariates often have influences from earlier treatments as well as on subsequent treatments. Consequently, the standard parameters – i.e., the mean of the outcome given all treatments and covariates-- are essentially all different (null paradox). Furthermore, the dimension of the parameters is huge (curse of dimensionality). Therefore, it can be difficult to conduct the modeling in terms of standard parameters. Instead of standard parameters, we have use point effects of treatments to develop likelihood-based parametric approach to the modeling of these causal effects and are able to model the causal effects of a sequence of treatments by modeling a small number of point effects of individual treatment Achievements: We are able to conduct the modeling of the causal effects from a sequence of treatments in the familiar framework of single-point causal inference. The simulation shows that our method achieves not only an unbiased estimate for the causal effect but also the nominal level of type I error and a low level of type II error for the hypothesis testing. We have applied this method to a longitudinal study of COVID-19 mortality among Scandinavian countries and found that the Swedish approach performed far worse than the other countries' approach for COVID-19 mortality and the poor performance was largely due to its early measure during the initial period of the pandemic.

Keywords: causal effect, point effect, statistical modelling, sequential causal inference

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Authors: Zhidong Zhang, Zhi-Chao Zhang, Georgiana Duarte

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The Chinese version of the Child Behavior Checklist (CBCL) is the one of the Achenbach systems of empirically based assessment (ASEBA) scales, by which behavioral and emotional problems of early adolescents were examined. In order to further understand the robustness of the scale, its reliability has been examined. CBCL consists of 8 problems to measure internalizing, externalizing and social problems. In internalizing problem, there are Anxious, Withdrawn and Somatic Complaints. In this study, as an example, we only examined the anxious aspect which consisted of 13 questions. Cronbach alpha and factor analysis methods were used to examine the reliability of the scale. The result indicated that Cronbach alpha value was above 0.80.

Keywords: anxious/depressed problems, ASEBA, CBCL, Cronbach Alpha, reliability

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Authors: Woo Young Jung, Sung Min Park, Ho Young Son, Viriyavudh Sim

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This study presents a way to reduce earthquake damage and emergency rehabilitation of critical structures such as schools, high-tech factories, and hospitals due to strong ground motions associated with climate changes. Regarding recent trend, a strong earthquake causes serious damage to critical structures and then the critical structure might be influenced by sequence aftershocks (or tsunami) due to fault plane adjustments. Therefore, in order to improve seismic performance of critical structures, retrofitted or strengthening study of the structures under aftershocks sequence after emergency rehabilitation of the structures subjected to strong earthquakes is widely carried out. Consequently, this study used composite material for emergency rehabilitation of the structure rather than concrete and steel materials because of high strength and stiffness, lightweight, rapid manufacturing, and dynamic performance. Also, this study was to develop or improve the seismic performance or seismic retrofit of critical structures subjected to strong ground motions and earthquake aftershocks, by utilizing GFRP-Corrugated Infill Panels (GCIP).

Keywords: aftershock, composite material, GFRP, infill panel

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Authors: Rajkumar Ghosh

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The study focuses on the tectonics of out-of-sequence thrusting (OOST) in the NW region of the Himalaya, particularly in Himachal Pradesh. The research aims to identify the features and nature of OOST in the field and the associated rock types and lithological boundaries in the field of NW Himalaya, Himachal Pradesh, India. The research employs fieldwork and micro-structure observations, correlations, and analyses to identify and analyze the OOST features and associated rock types. The study reveals the presence of three OOSTs, namely Jhakri Thrust (JT), Sarahan Thrust (ST), and Chaura Thrust (CT), which consist of several branches, some of which are still active. The thrust system exhibits varying internal geometry, including box folds, boudins, scar folds, crenulation cleavages, kink folds, and tension gashes. The CT, which is concealed beneath Jutogh Thrust sheet, represents a steepened downward thrust, while the JT has a western dip and is south-westward verging. The research provides crucial information on the tectonics of OOST in the NW region of the Himalaya, particularly in Himachal Pradesh, which is crucial in understanding the regional geological evolution and associated hazards. The data were collected through fieldwork and micro-structure observations, correlations, and analyses of rock samples. The data were analyzed using tectonic and geochronological techniques to identify the nature and characteristics of OOST. The research addressed the question of identifying Higher Himalayan OOST in the field of NW Himalaya, Himachal Pradesh, India, and the associated rock types and lithological boundaries. The study concludes that there is minimal documentation and a lack of suitable exposure of rocks to generalize the features of OOST in the field in NW Higher Himalaya, Himachal Pradesh. The study recommends more extensive mapping and fieldwork to improve understanding of OOST in the region.

Keywords: out-of-sequence thrust (OOST), main central thrust (MCT), jhakri thrust (JT), sarahan thrust (ST), chaura thrust (CT), higher himalaya (HH)

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Authors: Ling Qi, Matloob Khushi, Josiah Poon

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This paper introduces a pre-trained Masked Candlestick Model (MCM) for trading time-series data. The pre-trained model is based on three core designs. First, we convert trading price data at each data point as a set of normalized elements and produce embeddings of each element. Second, we generate a masked sequence of such embedded elements as inputs for self-supervised learning. Third, we use the encoder mechanism from the transformer to train the inputs. The masked model learns the contextual relations among the sequence of embedded elements, which can aid downstream classification tasks. To evaluate the performance of the pre-trained model, we fine-tune MCM for three different downstream classification tasks to predict future price trends. The fine-tuned models achieved better accuracy rates for all three tasks than the baseline models. To better analyze the effectiveness of MCM, we test the same architecture for three currency pairs, namely EUR/GBP, AUD/USD, and EUR/JPY. The experimentation results demonstrate MCM’s effectiveness on all three currency pairs and indicate the MCM’s capability for signal extraction from trading data.

Keywords: masked language model, transformer, time series prediction, trading prediction, embedding, transfer learning, self-supervised learning

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Authors: Michel Moliere

Abstract:

In the next decades, the thermal power generation segment will survive only if it achieves deep mutations, including drastical abatements of CO2 emissions and strong efficiency gains. In this challenging perspective, stationary gas turbines appear as serious candidates to lead the energy transition. Indeed, during the past decades, these turbomachines have made brisk technological advances in terms of efficiency, reliability, fuel flex (including the combustion of hydrogen), and the ability to hybridize with regenrables. It is, therefore, timely to summarize the progresses achieved by gas turbines in the recent past and to examine what are their assets to face the challenges of the energy transition.

Keywords: energy transition, gas turbines, decarbonization, power generation

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Authors: Waheed Akhtar

Abstract:

In the current study, we aim to access the different month-wise reproductive biology of S. esocinus. Samples were collected from Rive Swat in the period of March 2022 to March 2023. Samples were collected using different gills nets of different sizes. Gonado Somatic Index and fecundity were studied using gravimetric to identify the breeding season and reproductive potential. The highest GSI was recorded in the month of April and November. Male to female ratio was in balance. The weight of the fish, size of the fish and ovary were parallel to the fecundity. This is the baseline study for the breeding biology of S. esocinus and further molecular study is required to identify the internal and external factors associated with the breeding biology of S. esocinus.

Keywords: snow trout, length and weight relationship, fecundity, river Swat

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Authors: Ugo Rovigatti

Abstract:

Neuroblastoma (NBL) has epitomized for at least 40 years our understanding of cancer cellular and molecular biology and its potential applications to novel therapeutic strategies. This includes the discovery of the very first oncogene aberrations and tumorigenesis suppression by differentiation in the 80s; the potential role of suppressor genes in the 90s; the relevance of immunotherapy in the millennium first, and the discovery of additional mutations by NGS technology in the millennium second decade. Similar discoveries were achieved in the majority of human cancers, and similar therapeutic interventions were obtained subsequently to NBL discoveries. Unfortunately, targeted therapies suggested by specific mutations (such as MYCN amplification –MNA- present in ¼ or 1/5 of cases) have not elicited therapeutic successes in aggressive NBL, where the prognosis is still dismal. The reasons appear to be linked to Tumor Heterogeneity, which is particularly evident in NBL but also a clear hallmark of aggressive human cancers generally. The new avenue of cancer immunotherapy (CIT) provided new hopes for cancer patients, but we still ignore the cellular or molecular targets. CIT is emblematic of high-risk disease (HR-NBL) since the mentioned GD2 passive immunotherapy is still providing better survival. We recently critically reviewed and evaluated the literature depicting the genomic landscapes of HR-NBL, coming to the qualified conclusion that among hundreds of affected genes, potential targets, or chromosomal sites, none correlated with anti-GD2 sensitivity. A better explanation is provided by the Micro-Foci inducing Virus (MFV) model, which predicts that neuroblasts infection with the MFV, an RNA virus isolated from a cancer-cluster (space-time association) of HR-NBL cases, elicits the appearance of MNA and additional genomic aberrations with mechanisms resembling chromothripsis. Neuroblasts infected with low titers of MFV amplified MYCN up to 100 folds and became highly transformed and malignant, thus causing neuroblastoma in young rat pups of strains SD and Fisher-344 and larger tumor masses in nu/nu mice. An association was discovered with GD2 since this glycosphingolipid is also the receptor for the family of MFV virus (dsRNA viruses). It is concluded that a dsRNA virus, MFV, appears to provide better explicatory mechanisms for the genesis of i) specific genomic aberrations such as MNA; ii) extensive tumor heterogeneity and chromothripsis; iii) the effects of passive immunotherapy with anti-GD2 monoclonals and that this and similar models should be further investigated in both pediatric and adult cancers.

Keywords: neuroblastoma, MYCN, amplification, viruses, GD2

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Authors: Priyanka Mazumdar, Ananya Mukhopadhyay

Abstract:

A lot of progress has been achieved in the research of turbidites during the last decades. However, their relationship to delta systems still deserves further attention. This paper addresses example of fine grained turbidite from a pro-deltaic deposit of a Proterozoic mixed energy delta system exposed along Chaossa-Baliana river section of the Chaossa Formation of the Simla Basin. Lithostratigraphic analysis of the Chaossa Formation reveals three major facies associations (prodelta deposit-FA1, delta slope deposit-FA2 and delta front deposit-FA3) based on lithofacies types, petrography and sedimentary structures. Detailed process-based facies and paleoenvironmental analysis of the study area have led to identification of more than150 m thick coarsening-upwards deltaic successions composed of fine grained turbidites overlain by delta slope deposits. Erosional features are locally common at the base of turbidite beds and still more widespread at the top. The complete sequence has eight sub-divisions that are here termed T1 to T8. The basal subdivision (T1) comprises a massive graded unit with a sharp, scoured base, internal parallel-lamination and cross-lamination. The overlying sequence shows textural and compositional grading through alternating silt and mud laminae (T2). T2 is overlying by T3 which is characterized by climbing ripple and cross lamination. Parallel laminae are the predominant facies attributes of T4 which caps the T3 unit. T5 has a loaded scour base and is mainly characterized laminated silt. The topmost three divisions, graded mud (T6), ungraded mud (T7) and laminated mud (T8). The proposed sequence is analogous to the Bouma (1962) structural scheme for sandy turbidites. Repetition of partial sequences represents deposition from different stages of evolution of a large, muddy, turbidity flow. Detailed facies analysis of the study area reveals that the sediments of the turbidites developed during normal regression at the stage of stable or marginally rising sea level. Thin-bedded turbidites were deposited predominantly by turbidity currents in the relatively shallower part of the Simla basin. The fine-grained turbidites are developed by resedimentation of delta-front sands and slumping of upper pro-delta muds.

Keywords: turbidites, prodelta, proterozoic, Simla Basin, Bouma sequence

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