Search results for: laser line detection

Authors: Tatiana A. Dolenko, Sergey A. Burikov, Alexander O. Efitorov, Sergey A. Dolenko

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In this study, a comparative analysis of the approaches associated with the use of neural network algorithms for effective solution of a complex inverse problem – the problem of identifying and determining the individual concentrations of inorganic salts in multicomponent aqueous solutions by the spectra of Raman scattering of light – is performed. It is shown that application of artificial neural networks provides the average accuracy of determination of concentration of each salt no worse than 0.025 M. The results of comparative analysis of input data compression methods are presented. It is demonstrated that use of uniform aggregation of input features allows decreasing the error of determination of individual concentrations of components by 16-18% on the average.

Keywords: inverse problems, multi-component solutions, neural networks, Raman spectroscopy

Procedia PDF Downloads 529

Authors: Siva Kumar Bathina, Sudheer Siddapureddy

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Fires accident becomes even worse when the hazardous equipment like reactors or radioactive waste packages are engulfed in fire. In this work, large-eddy numerical fire simulations are performed using fire dynamic simulator to predict the thermal behavior of such bodies engulfed in hydrocarbon pool fires. A radiatively dominated 0.3 m circular burner with n-heptane as the fuel is considered in this work. The fire numerical simulation results without anybody inside the fire are validated with the reported experimental data. The comparison is in good agreement for different flame properties like predicted mass burning rate, flame height, time-averaged center-line temperature, time-averaged center-line velocity, puffing frequency, the irradiance at the surroundings, and the radiative heat feedback to the pool surface. Cask of different sizes is simulated with SS304L material. The results are independent of the material of the cask simulated as the adiabatic surface temperature concept is employed in this study. It is observed that the mass burning rate increases with the blockage ratio (3% ≤ B ≤ 32%). However, the change in this increment is reduced at higher blockage ratios (B > 14%). This is because the radiative heat feedback to the fuel surface is not only from the flame but also from the cask volume. As B increases, the volume of the cask increases and thereby increases the radiative contribution to the fuel surface. The radiative heat feedback in the case of the cask engulfed in the fire is increased by 2.5% to 31% compared to the fire without cask.

Keywords: adiabatic surface temperature, fire accidents, fire dynamic simulator, radiative heat feedback

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Authors: Celal Dudak, Aslı Utku, Burak Yağlioğlu

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Uninterrupted and continuous satellite communication through the whole orbit time is becoming more indispensable every day. Data relay systems are developed and built for various high/low data rate information exchanges like TDRSS of USA and EDRSS of Europe. In these missions, a couple of task-dedicated communication satellites exist. In this regard, for Turkey a data relay system is attempted to be defined exchanging low data rate information (i.e. TTC) for Earth-observing LEO satellites appointing commercial GEO communication satellites all over the world. First, justification of this attempt is given, demonstrating duration enhancements in the link. Discussion of preference of RF communication is, also, given instead of laser communication. Then, preferred communication GEOs – including TURKSAT4A already belonging to Turkey- are given, together with the coverage enhancements through STK simulations and the corresponding link budget. Also, a block diagram of the communication system is given on the LEO satellite.

Keywords: communication, GEO satellite, data relay system, coverage

Procedia PDF Downloads 443

Authors: Lucia Billeci, Gennaro Tartarisco, Maurizio Varanini

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Fetal cardiac monitoring by fetal electrocardiogram (fECG) can provide significant clinical information about the healthy condition of the fetus. Despite this potentiality till now the use of fECG in clinical practice has been quite limited due to the difficulties in its measuring. The recovery of fECG from the signals acquired non-invasively by using electrodes placed on the maternal abdomen is a challenging task because abdominal signals are a mixture of several components and the fetal one is very weak. This paper presents an approach for fECG extraction from abdominal maternal recordings, which exploits the characteristics of pseudo-periodicity of fetal ECG. It consists of devising a quality index (fQI) for fECG and of finding the linear combinations of preprocessed abdominal signals, which maximize these fQI (quality index optimization - QIO). It aims at improving the performances of the most commonly adopted methods for fECG extraction, usually based on maternal ECG (mECG) estimating and canceling. The procedure for the fECG extraction and fetal QRS (fQRS) detection is completely unsupervised and based on the following steps: signal pre-processing; maternal ECG (mECG) extraction and maternal QRS detection; mECG component approximation and canceling by weighted principal component analysis; fECG extraction by fQI maximization and fetal QRS detection. The proposed method was compared with our previously developed procedure, which obtained the highest at the Physionet/Computing in Cardiology Challenge 2013. That procedure was based on removing the mECG from abdominal signals estimated by a principal component analysis (PCA) and applying the Independent component Analysis (ICA) on the residual signals. Both methods were developed and tuned using 69, 1 min long, abdominal measurements with fetal QRS annotation of the dataset A provided by PhysioNet/Computing in Cardiology Challenge 2013. The QIO-based and the ICA-based methods were compared in analyzing two databases of abdominal maternal ECG available on the Physionet site. The first is the Abdominal and Direct Fetal Electrocardiogram Database (ADdb) which contains the fetal QRS annotations thus allowing a quantitative performance comparison, the second is the Non-Invasive Fetal Electrocardiogram Database (NIdb), which does not contain the fetal QRS annotations so that the comparison between the two methods can be only qualitative. In particular, the comparison on NIdb was performed defining an index of quality for the fetal RR series. On the annotated database ADdb the QIO method, provided the performance indexes Sens=0.9988, PPA=0.9991, F1=0.9989 overcoming the ICA-based one, which provided Sens=0.9966, PPA=0.9972, F1=0.9969. The comparison on NIdb was performed defining an index of quality for the fetal RR series. The index of quality resulted higher for the QIO-based method compared to the ICA-based one in 35 records out 55 cases of the NIdb. The QIO-based method gave very high performances with both the databases. The results of this study foresees the application of the algorithm in a fully unsupervised way for the implementation in wearable devices for self-monitoring of fetal health.

Keywords: fetal electrocardiography, fetal QRS detection, independent component analysis (ICA), optimization, wearable

Procedia PDF Downloads 283

Authors: Sylwia K. Naliwajko, Renata Markiewicz-Zukowska, Justyna Moskwa, Krystyna Gromkowska-Kepka, Konrad Mielcarek, Patryk Nowakowski, Katarzyna Socha, Anna Puscion-Jakubik, Maria H. Borawska

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Glioblastoma (grade IV WHO) is a rapidly progressive brain tumor with very high morbidity and mortality. The vast malignant gliomas are not curable despite the therapy (surgical, radiotherapy, chemotherapy) and patients seek alternative or complementary treatments. Patients often use cannabidiol (CBD) oil as an alternative therapy of glioblastoma. CBD is one of the cannabinoids, an active component of Cannabis sativa. THC (Δ9-tetrahydrocannabinol) can be addictive, and in many countries CBD oil without THC ( < 0,2%) is available. Propolis produced by bees from the resin collected from trees has antiglioma properties in vitro and can be used as a supplement in complementary therapy of gliomas. The aim of this study was to examine the influence of extract from CBD oil in combination with propolis extract on two glioblastoma cell lines. The MTT (Thiazolyl Blue Tetrazolium Bromide) test was used to determine the influence of CBD oil extract and polish propolis extract (PPE) on the viability of glioblastoma cell lines – U87MG and LN18. The cells were incubated (24, 48 and 72 h) with CBD oil extract and PPE. CBD extract was used in concentration 1, 1.5 and 3 µM and PPE in 30 µg/mL. The data were presented compared to the control. The statistical analysis was performed using Statistica v. 13.0 software. CBD oil extract in concentrations 1, 1.5 and 3 µM did not inhibit the viability of U87MG and LN18 cells (viability more than 90% cells compared to the control). There was no dose-response viability, and IC50 value was not recognized. PPE in the concentration of 30 µg/mL time-dependently inhibited the viability of U87MG and LN18 cell line (after 48 h the viability as a percent of the control was 59,7±6% and 57,8±7%, respectively). In a combination of CBD with PPE, the viability of the treated cells was similar to PPE used alone (58,2±7% and 56,5±9%, respectively). CBD oil extract did not show anti-glioma activity and in combination with PPE did not change the activity of PPE.

Keywords: anticancer, cannabidiol, cell line, glioblastoma

Procedia PDF Downloads 247

Authors: Ayat E. Ali, Christeen R. Aziz, Merna A. Helmy, Mohammed M. Malek, Sherif H. El-Gohary

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Goal: Purpose of the project was to make a plastic surgery prediction by using pre-operative images for the plastic surgeries’ patients and to show this prediction on a screen to compare between the current case and the appearance after the surgery. Methods: To this aim, we implemented a software which used data from the internet for facial skin diseases, skin burns, pre-and post-images for plastic surgeries then the post- surgical prediction is done by using K-nearest neighbor (KNN). So we designed and fabricated a smart mirror divided into two parts a screen and a reflective mirror so patient's pre- and post-appearance will be showed at the same time. Results: We worked on some skin diseases like vitiligo, skin burns and wrinkles. We classified the three degrees of burns using KNN classifier with accuracy 60%. We also succeeded in segmenting the area of vitiligo. Our future work will include working on more skin diseases, classify them and give a prediction for the look after the surgery. Also we will go deeper into facial deformities and plastic surgeries like nose reshaping and face slim down. Conclusion: Our project will give a prediction relates strongly to the real look after surgery and decrease different diagnoses among doctors. Significance: The mirror may have broad societal appeal as it will make the distance between patient's satisfaction and the medical standards smaller.

Keywords: k-nearest neighbor (knn), face detection, vitiligo, bone deformity

Procedia PDF Downloads 168

Authors: Ihab Al-Mokrani

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The Arabic heritage has two types of spoken rhetoric: the first type which al-Jaahiz calls “the rhetoric of the sign,” which means body language, and the rhetoric of silence which is of no less importance than the rhetoric of the sign, the speaker’s appearance and movements, etc. The second type is the spoken performance of utterances which bears written rhetoric arts like metaphor, simile, metonymy, etc. Rationale of the study: First: in spite of the factual existence of rhetorical phenomena in the Arabic heritage, there has been no contemporary study handling the spoken rhetoric in the Arabic heritage. Second: Arabic Civilization is originally a spoken one. Comparing the Arabic culture and civilization, from one side, to the Greek, roman or Pharaonic cultures and civilizations, from the other side, shows that the latter cultures and civilizations started and flourished written while the former started among illiterate people who had no interest in writing until recently. That sort of difference on the part of the Arabic culture and civilization created a rhetoric different from rhetoric in the other cultures and civilizations. Third: the spoken nature of the Arabic civilization influenced the Arabic rhetoric in the sense that specific rhetorical arts have been introduced matching that spoken nature. One of these arts is the art of concision which compensates for the absence of writing’s means of preserving the text. In addition, this interprets why many of the definitions of the Arabic rhetoric were defining rhetoric as the art of concision. Also, this interprets the fact that the literary genres known in the Arabic culture were limited by the available narrow space like poetry, anecdotes, and stories, while the literary genres in the Greek culture were of wide space as epics and drama. This is not of any contrast to the fact that some Arabic poetry would exceed 100 lines of poetry as Arabic poetry was based on the line organic unity, which means that every line could stand alone with a full meaning that is not dependent on the rest of the poem; and that last aspect has never happened in any culture other than the Arabic culture.

Keywords: Arabic rhetoric, spoken rhetoric, Arabic heritage, culture

Procedia PDF Downloads 774

Authors: Bal Chandra Yadav, Rakesh K. Sonker, Anjali Sharma, Punit Tyagi, Vinay Gupta, Monika Tomar

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In the present study, ZnO doped SnO2 thin films of various compositions were deposited on the surface of a corning substrate by dropping the two sols containing the precursors for composite (ZSO) with subsequent heat treatment. The sensor materials used for selective detection of nitrogen dioxide (NO2) were designed from the correlation between the sensor composition and gas response. The available NO2 sensors are operative at very high temperature (150-800 °C) with low sensing response (2-100) even in higher concentrations. Efforts are continuing towards the development of NO2 gas sensor aiming with an enhanced response along with a reduction in operating temperature by incorporating some catalysts or dopants. Thus in this work, a novel sensor structure based on ZSO nanocomposite has been fabricated using chemical route for the detection of NO2 gas. The structural, surface morphological and optical properties of prepared films have been studied by using X-ray diffraction (XRD), Atomic force microscopy (AFM), Transmission electron microscope (TEM) and UV-visible spectroscopy respectively. The effect of thickness variation from 230 nm to 644 nm of ZSO composite thin film has been studied and the ZSO thin film of thickness ~ 460 nm was found to exhibit the maximum gas sensing response ~ 2.1×103 towards 20 ppm NO2 gas at an operating temperature of 90 °C. The average response and recovery times of the sensor were observed to be 3.51 and 6.91 min respectively. Selectivity of the sensor was checked with the cross-exposure of vapour CO, acetone, IPA, CH4, NH3 and CO2 gases. It was found that besides the higher sensing response towards NO2 gas, the prepared ZSO thin film was also highly selective towards NO2 gas.

Keywords: ZSO nanocomposite thin film, ZnO tetrapod structure, NO2 gas sensor, sol-gel method

Procedia PDF Downloads 341

Authors: Shuo Li, Yannick Coffinier, Chann Lagadec, Fabrizio Cleri, Katsuhiko Nishiguchi, Akira Fujiwara, Soo Hyeon Kim, Nicolas Clément

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The need for single cell detection and analysis techniques has increased in the past decades because of the heterogeneity of individual living cells, which increases the complexity of the pathogenesis of malignant tumors. In the search for early cancer detection, high-precision medicine and therapy, the technologies most used today for sensitive detection of target analytes and monitoring the variation of these species are mainly including two types. One is based on the identification of molecular differences at the single-cell level, such as flow cytometry, fluorescence-activated cell sorting, next generation proteomics, lipidomic studies, another is based on capturing or detecting single tumor cells from fresh or fixed primary tumors and metastatic tissues, and rare circulating tumors cells (CTCs) from blood or bone marrow, for example, dielectrophoresis technique, microfluidic based microposts chip, electrochemical (EC) approach. Compared to other methods, EC sensors have the merits of easy operation, high sensitivity, and portability. However, despite various demonstrations of low limits of detection (LOD), including aptamer sensors, arrayed EC sensors for detecting single-cell have not been demonstrated. In this work, a new technique based on 20-nm-thick nanopillars array to support cells and keep them at ideal recognition distance for redox-labeled aptamers grafted on the surface. The key advantages of this technology are not only to suppress the false positive signal arising from the pressure exerted by all (including non-target) cells pushing on the aptamers by downward force but also to stabilize the aptamer at the ideal hairpin configuration thanks to a confinement effect. With the first implementation of this technique, a LOD of 13 cells (with5.4 μL of cell suspension) was estimated. In further, the nanosupported cell technology using redox-labeled aptasensors has been pushed forward and fully integrated into a single-cell electrochemical aptasensor array. To reach this goal, the LOD has been reduced by more than one order of magnitude by suppressing parasitic capacitive electrochemical signals by minimizing the sensor area and localizing the cells. Statistical analysis at the single-cell level is demonstrated for the recognition of cancer cells. The future of this technology is discussed, and the potential for scaling over millions of electrodes, thus pushing further integration at sub-cellular level, is highlighted. Despite several demonstrations of electrochemical devices with LOD of 1 cell/mL, the implementation of single-cell bioelectrochemical sensor arrays has remained elusive due to their challenging implementation at a large scale. Here, the introduced nanopillar array technology combined with redox-labeled aptamers targeting epithelial cell adhesion molecule (EpCAM) is perfectly suited for such implementation. Combining nanopillar arrays with microwells determined for single cell trapping directly on the sensor surface, single target cells are successfully detected and analyzed. This first implementation of a single-cell electrochemical aptasensor array based on Brownian-fluctuating redox species opens new opportunities for large-scale implementation and statistical analysis of early cancer diagnosis and cancer therapy in clinical settings.

Keywords: bioelectrochemistry, aptasensors, single-cell, nanopillars

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Authors: Kavita Bodke

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Structural health monitoring (SHM) is experiencing growth, necessitating the development of distinct methodologies to address its expanding scope effectively. In this study, we developed automatic structure damage identification, which incorporates three unique types of a building’s structural integrity. The first pertains to the presence of fractures within the structure, the second relates to the issue of dampness within the structure, and the third involves corrosion inside the structure. This study employs image classification techniques to discern between intact and impaired structures within structural data. The aim of this research is to find automatic damage detection with the probability of each damage class being present in one image. Based on this probability, we know which class has a higher probability or is more affected than the other classes. Utilizing photographs captured by a mobile camera serves as the input for an image classification system. Image classification was employed in our study to perform multi-class and multi-label classification. The objective was to categorize structural data based on the presence of cracks, moisture, and corrosion. In the context of multi-class image classification, our study employed three distinct methodologies: Random Forest, Multilayer Perceptron, and CNN. For the task of multi-label image classification, the models employed were Rasnet, Xceptionet, and Inception.

Keywords: SHM, CNN, deep learning, multi-class classification, multi-label classification

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Authors: S. Jain, R. Savalia, V. Saini

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A simple, accurate, precise, sensitive and specific RP-HPLC method was developed and validated for simultaneous estimation of Metoprolol Succinate and Olmesartan Medoxomil in bulk and tablet dosage form. The RP-HPLC method has shown adequate separation for Metoprolol Succinate and Olmesartan Medoxomil from its degradation products. The separation was achieved on a Phenomenex luna ODS C18 (250mm X 4.6mm i.d., 5μm particle size) with an isocratic mixture of acetonitrile: 50mM phosphate buffer pH 4.0 adjusted with glacial acetic acid in the ratio of 55:45 v/v. The mobile phase at a flow rate of 1.0ml/min, Injection volume 20μl and wavelength of detection was kept at 225nm. The retention time for Metoprolol Succinate and Olmesartan Medoxomil was 2.451±0.1min and 6.167±0.1min, respectively. The linearity of the proposed method was investigated in the range of 5-50μg/ml and 2-20μg/ml for Metoprolol Succinate and Olmesartan Medoxomil, respectively. Correlation coefficient was 0.999 and 0.9996 for Metoprolol Succinate and Olmesartan Medoxomil, respectively. The limit of detection was 0.2847μg/ml and 0.1251μg/ml for Metoprolol Succinate and Olmesartan Medoxomil, respectively and the limit of quantification was 0.8630μg/ml and 0.3793μg/ml for Metoprolol and Olmesartan, respectively. Proposed methods were validated as per ICH guidelines for linearity, accuracy, precision, specificity and robustness for estimation of Metoprolol Succinate and Olmesartan Medoxomil in commercially available tablet dosage form and results were found to be satisfactory. Thus the developed and validated stability indicating method can be used successfully for marketed formulations.

Keywords: metoprolol succinate, olmesartan medoxomil, RP-HPLC method, validation, ICH

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Authors: Fahad Hanash Alzahrani

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This paper describes some recent advances in a quickly developing area of data storing and processing based on Data Warehouses and Data Mining techniques, which are associated with software, hardware, data mining algorithms and visualisation techniques having common features for any specific problems and tasks of their implementation.

Keywords: data warehouse, data mining, knowledge discovery in databases, on-line analytical processing

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Authors: Mohammad Nazri Mustafa, Sh Norliza Sy Salim, Pedram Hatami Abdullah

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Civil and structural assets normally have an average of more than 30 years of design life. Adding to this advantage, the assets are normally subjected to slow degradation process. Due to the fact that repair and strengthening work for these assets are normally not dependent on plant shut down, the maintenance and integrity restoration of these assets are mostly done based on “as required” and “run to failure” basis. However unlike other industries, the exposure in oil and gas environment is harsher as the result of corrosive soil and groundwater, chemical spill, frequent wetting and drying, icing and de-icing, steam and heat, etc. Due to this type of exposure and the increasing level of structural defects and rectification in line with the increasing age of plants, assets integrity assessment requires a more defined scope and procedures that needs to be based on risk and assets criticality. This leads to the establishment of risk based inspection and proactive maintenance procedure for civil and structural assets. To date there is hardly any procedure and guideline as far as integrity assessment and systematic inspection and maintenance of civil and structural assets (onshore) are concerned. Group Technical Solutions has developed a procedure and guideline that takes into consideration credible failure scenario, assets risk and criticality from process safety and structural engineering perspective, structural importance, modeling and analysis among others. Detailed inspection that includes destructive and non-destructive tests (DT & NDT) and structural monitoring is also being performed to quantify defects, assess severity and impact on integrity as well as identify the timeline for integrity restoration. Each defect and its credible failure scenario is assessed against the risk on people, environment, reputation and production loss. This technical paper is intended to share on the established procedure and guideline and their execution in oil & gas plants. In line with the overall roadmap, the procedure and guideline will form part of specialized solutions to increase production and to meet the “Operational Excellence” target while extending service life of civil and structural assets. As the result of implementation, the management of civil and structural assets is now more systematically done and the “fire-fighting” mode of maintenance is being gradually phased out and replaced by a proactive and preventive approach. This technical paper will also set the criteria and pose the challenge to the industry for innovative repair and strengthening methods for civil & structural assets in oil & gas environment, in line with safety, constructability and continuous modification and revamp of plant facilities to meet production demand.

Keywords: assets criticality, credible failure scenario, proactive and preventive maintenance, risk based inspection

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Authors: Meral Tuncbilek, Duygu Sac, Irem Durmaz, Rengul Cetin Atalay

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Nucleoside analogs are a pharmacologically diverse family that includes cytotoxic compounds, antiviral agents, and immunosuppressive molecules. Purine nucleoside derivatives such as fludarabine, cladribine, and pentostatin are significant drugs used in chemotherapy for the treatment of solid tumors and hematological malignancies. In this study, we synthesized novel purine ribonucleoside analogs containing a 4-(4-substituted phenylsulfonyl) piperazine in the substituent at N6- and O-substituted sulfonyl group at 5’-position as putative cytotoxic agents. The newly obtained compounds were then characterized for their cytotoxicity in human cancer cell lines. The 5’, 6-disubstituted 9-(β-D-ribofuranosyl)purine derivatives (44-67) were readily obtained from commercially available inosine in seven steps in very cost effective synthesis approach. The newly synthesized compounds were first evaluated for their anti-tumor activities against human liver (Huh7), colon (HCT116) and breast (MCF7) carcinoma cell lines. The IC50 values were in micromolar concentrations with 5’, 6-disubstituted purine nucleoside derivatives. Time-dependent IC50 values for each molecule were also calculated in comparison with known cytotoxic agents Camptothecin (CPT), 5-Fluorouracil (5-FU), Cladribine, Pentostatine and Fludarabine. N6-(4-trifluoromethyl phenyl) / N6-(4-bromophenyl) and 5’-O-(4-methoxybenzene sulfonyl) / 5’-O-(benzenesulfonyl) derivatives 54, 64 displayed the best cytotoxic activity with IC50 values of 8.8, 7 µM against MCF7 cell line. The N6-(4-methylphenyl) analog 50 was also very active (IC50= 10.7 μM) against HCT116 cell line. Furthermore, compound 64 had a better cytotoxic activity than the known cell growth inhibitors 5-FU and Fludarabine on Huh7 (1.5 vs 30.7, 29.9 μM for 5-FU and Fludarabine).

Keywords: cytotoxic activity, Huh7, HCT116, MCF7, nucleoside, synthesis

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Authors: Alka Jakhar, Harmanpreet Kaur Sandhu, Samaresh Das

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The Terahertz (THz) technology-based devices are heightening at an alarming rate on account of the wide range of applications in imaging, security, communication, and spectroscopic field. The various available room operational THz detectors, including Golay cell, pyroelectric detector, field-effect transistors, and photoconductive antennas, have some limitations such as narrow-band response, slow response speed, transit time limits, and complex fabrication process. There is an urgent demand to explore new materials and device structures to accomplish efficient THz detection systems. Recently, TMDs including topological semimetals and topological insulators such as PtSe₂, MoTe₂, WSe₂, and PtTe₂ provide novel feasibility for photonic and optical devices. The peculiar properties of these materials, such as Dirac cone, fermions presence, nonlinear optical response, high conductivity, and ambient stability, make them worthy for the development of the THz devices. Here, the platinum telluride (PtTe₂) based devices have been demonstrated for THz detection in the frequency range of 0.1-1 THz. The PtTe₂ is synthesized by direct selenization of the sputtered platinum film on the high-resistivity silicon substrate by using the chemical vapor deposition (CVD) method. The Raman spectra, XRD, and XPS spectra confirm the formation of the thin PtTe₂ film. The PtTe₂ channel length is 5µm and it is connected with a bow-tie antenna for strong THz electric field confinement in the channel. The characterization of the devices has been carried out in a wide frequency range from 0.1-1 THz. The induced THz photocurrent is measured by using lock-in-amplifier after preamplifier. The maximum responsivity is achieved up to 1 A/W under self-biased mode. Further, this responsivity has been increased by applying biasing voltage. This photo response corresponds to low energy THz photons is mainly due to the photo galvanic effect in PtTe₂. The DC current is induced along the PtTe₂ channel, which is directly proportional to the amplitude of the incident THz electric field. Thus, these new topological semimetal materials provide new pathways for sensitive detection and sensing applications in the THz domain.

Keywords: terahertz, detector, responsivity, topological-semimetals

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Authors: Xuechun Kan, Dongdong Li, Fan Li, Peidang Liu

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Triple-negative breast cancer (TNBC) is the most malignant subtype of breast cancer with a poor prognosis, and radiotherapy is one of the main treatment methods. However, due to the obvious resistance of tumor cells to radiotherapy, high dose of ionizing radiation is required during radiotherapy, which causes serious damage to normal tissues near the tumor. Therefore, how to improve radiotherapy resistance and enhance the specific killing of tumor cells by radiation is a hot issue that needs to be solved in clinic. Recent studies have shown that silver-based nanoparticles have strong radiosensitization, and silver nanoclusters (AgNCs) also provide a broad prospect for tumor targeted radiosensitization therapy due to their ultra-small size, low toxicity or non-toxicity, self-fluorescence and strong photostability. Aptamer 5TR1 is a 25-base oligonucleotide aptamer that can specifically bind to mucin-1 highly expressed on the membrane surface of TNBC 4T1 cells, and can be used as a highly efficient tumor targeting molecule. In this study, AgNCs were synthesized by DNA template based on 5TR1 aptamer (NC-T5-5TR1), and its role as a targeted radiosensitizer in TNBC radiotherapy was investigated. The optimal DNA template was first screened by fluorescence emission spectroscopy, and NC-T5-5TR1 was prepared. NC-T5-5TR1 was characterized by transmission electron microscopy, ultraviolet-visible spectroscopy and dynamic light scattering. The inhibitory effect of NC-T5-5TR1 on cell activity was evaluated using the MTT method. Laser confocal microscopy was employed to observe NC-T5-5TR1 targeting 4T1 cells and verify its self-fluorescence characteristics. The uptake of NC-T5-5TR1 by 4T1 cells was observed by dark-field imaging, and the uptake peak was evaluated by inductively coupled plasma mass spectrometry. The radiation sensitization effect of NC-T5-5TR1 was evaluated through cell cloning and in vivo anti-tumor experiments. Annexin V-FITC/PI double staining flow cytometry was utilized to detect the impact of nanomaterials combined with radiotherapy on apoptosis. The results demonstrated that the particle size of NC-T5-5TR1 is about 2 nm, and the UV-visible absorption spectrum detection verifies the successful construction of NC-T5-5TR1, and it shows good dispersion. NC-T5-5TR1 significantly inhibited the activity of 4T1 cells and effectively targeted and fluoresced within 4T1 cells. The uptake of NC-T5-5TR1 reached its peak at 3 h in the tumor area. Compared with AgNCs without aptamer modification, NC-T5-5TR1 exhibited superior radiation sensitization, and combined radiotherapy significantly inhibited the activity of 4T1 cells and tumor growth in 4T1-bearing mice. The apoptosis level of NC-T5-5TR1 combined with radiation was significantly increased. These findings provide important theoretical and experimental support for NC-T5-5TR1 as a radiation sensitizer for TNBC.

Keywords: 5TR1 aptamer, silver nanoclusters, radio sensitization, triple-negative breast cancer

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Authors: Meza-Quintero Myriam, Lobo Torrado Katty Andrea, Sanchez Picon Yesenia, Hurtado-Lugo Naudin

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The objective of the study was to evaluate the internal and external quality of the egg in the three production housing systems: floor, cage, and grazing of laying birds of the Isa Brown line, in the laying period between weeks 35 to 41; 135 hens distributed in 3 treatments of 45 birds per repetition were used (the replicas were the seven weeks of the trial). The feeding treatment supplied in the floor and cage systems contained 114 g/bird/day; for the grazing system, 14 grams less concentrate was provided. Nine eggs were collected to be studied and analyzed in the animal nutrition laboratory (3 eggs per housing system). The random statistical model was implemented: for the statistical analysis of the data, the statistical software of IBM® Statistical Products and Services Solution (SPSS) version 2.3 was used. The evaluation and follow-up instruments were the vernier caliper for the measurement in millimeters, a YolkFan™16 from Roche DSM for the evaluation of the egg yolk pigmentation, a digital scale for the measurement in grams, a micrometer for the measurement in millimeters and evaluation in the laboratory using dry matter, ashes, and ethereal extract. The results suggested that equivalent to the size of the egg (0.04 ± 3.55) and the thickness of the shell (0.46 ± 3.55), where P-Value> 0.05 was obtained, weight albumen (0.18 ± 3.55), albumen height (0.38 ± 3.55), yolk weight (0.64 ± 3.55), yolk height (0.54 ± 3.55) and for yolk pigmentation (1.23 ± 3.55). It was concluded that the hens in the three production systems, floor, cage, and grazing, did not show significant statistical differences in the internal and external quality of the chicken in the parameters studied egg for the production system.

Keywords: biological, territories, genetic resource, egg

Procedia PDF Downloads 85

Authors: Maria Del Carmen Millan-Linares, Ana Lemus Conejo, Rocio Toscano, Alvaro Villanueva, Francisco Millan, Justo Pedroche, Sergio Montserrat-De La Paz

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GPETAFLR (Glycine-Proline-Glutamine-Threonine-Alanine-Phenylalanine-Leucine-Arginine) is a peptide isolated from Lupinus angustifolius L. protein hydrolysate (LPH). Herein, the effect of this peptide was investigated in two different models of neuroinflammation: in the immortalized murine microglia cell line BV-2 and in a high-fat-diet-induced obesity mouse model. Methods and Results: Effects of GPETAFLR on neuroinflammation were evaluated by RT-qPCR, flow cytometry, and ELISA techniques. In BV-2 microglial cells, Lipopolysaccharides (LPS) enhanced the release of pro-inflammatory cytokines (TNF-α, IL-1β, and IL-6) whereas GPETAFLR decreased pro-inflammatory cytokine levels and increased the release of the anti-inflammatory cytokine IL-10 in BV2 microglial cells. M1 (CCR7 and iNOS) and M2 (Arg-1 and Ym-1) polarization markers results showed how the GPETAFLR octapeptide was able to decrease M1 polarization marker expression and increase the M2 polarization marker expression compared to LPS. Animal model results indicate that GPETAFLR has an immunomodulatory capacity, both decreasing pro-inflammatory cytokine IL-6 and increasing the anti-inflammatory cytokine IL-10 in brain tissue. Polarization markers in the brain tissue were also modulated by GPETAFLR that decreased the pro-inflammatory expression (M1) and increased the anti-inflammatory expression (M2). Conclusion: Our results suggest that GPETAFLR isolated from LPH has significant potential for management of neuroinflammatory conditions and offer benefits derived from the consumption of Lupinus angustifolius L. in the prevention of neuroinflammatory-related diseases.

Keywords: GPETAFLR peptide, BV-2 cell line, neuroinflammation, cytokines, high-fat-diet

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Authors: David P. Tantua, Abdulkader Helwan

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Biometrics has been recently used for the human identification systems using the biological traits such as the fingerprints and iris scanning. Identification systems based biometrics show great efficiency and accuracy in such human identification applications. However, these types of systems are so far based on some image processing techniques only, which may decrease the efficiency of such applications. Thus, this paper aims to develop a human palmprint identification system using multi-layer perceptron neural network which has the capability to learn using a backpropagation learning algorithms. The developed system uses images obtained from a public database available on the internet (CASIA). The processing system is as follows: image filtering using median filter, image adjustment, image skeletonizing, edge detection using canny operator to extract features, clear unwanted components of the image. The second phase is to feed those processed images into a neural network classifier which will adaptively learn and create a class for each different image. 100 different images are used for training the system. Since this is an identification system, it should be tested with the same images. Therefore, the same 100 images are used for testing it, and any image out of the training set should be unrecognized. The experimental results shows that this developed system has a great accuracy 100% and it can be implemented in real life applications.

Keywords: biometrics, biological traits, multi-layer perceptron neural network, image skeletonizing, edge detection using canny operator

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Authors: Nastaran Hemmati, Farhad Nikkhahi, Amir Javadi, Sahar Eskandarion, Seyed Mahmuod Amin Marashi

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Neisseria meningitidis, Escherichia coli K, Streptococcus agalactiae, and Streptococcus pneumoniae cause 90% of bacterial meningitis. Almost all infected people die or have irreversible neurological complications. Therefore, it is essential to have a diagnostic kit with the ability to quickly detect these fatal infections. The project involved 212 patients from whom cerebrospinal fluid samples were obtained. After total genome extraction and performing multiplex quantitative polymerase chain reaction (qPCR), the presence or absence of each infectious factor was determined by comparing with standard strains. The specificity, sensitivity, positive predictive value, and negative predictive value calculated were 100%, 92.9%, 50%, and 100%, respectively. So, due to the high specificity and sensitivity of the designed primers, they can be used instead of bacterial culture that takes at least 24 to 48 hours. The remarkable benefit of this method is associated with the speed (up to 3 hours) at which the procedure could be completed. It is also worth noting that this method can reduce the personnel unintentional errors which may occur in the laboratory. On the other hand, as this method simultaneously identifies four common factors that cause bacterial meningitis, it could be used as an auxiliary method diagnostic technique in laboratories particularly in cases of emergency medicine.

Keywords: cerebrospinal fluid, meningitis, quantitative polymerase chain reaction, simultaneous detection, diagnosis testing

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Authors: Ergun Sakalar, Kubra Bilgic

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In the last decades, real-time PCR has become a reliable tool preferred to use in many laboratories for pathogen detection. This technique allows for monitoring target amplification via fluorescent molecules besides admit of quantitative analysis by enabling of convert outcomes of thermal cycling to digital data. Sensitivity and traceability of real-time PCR are based on measuring of fluorescence that appears only when fluorescent reporter dye bound to specific target DNA.The fluorescent reporter systems developed for this purpose are divided into two groups. The first group consists of intercalator fluorescence dyes such as SYBR Green, EvaGreen which binds to double-stranded DNA. On the other hand, the second group includes fluorophore-labeled oligonucleotide probes that are separated into three subgroups due to differences in mechanism of action; initial primer-probes such as Cyclicons, Angler®, Amplifluor®, LUX™, Scorpions, and the second one hydrolysis probes like TaqMan, Snake assay, finally hybridization probes, for instance, Molecular Beacons, Hybprobe/FRET, HyBeacon™, MGB-Eclipse, ResonSense®, Yin-Yang, MGB-Pleiades. In addition nucleic acid analogues, an increase of probe affinity to target site is also employed with fluorescence-labeled probes. Consequently, abundant real-time PCR detection chemistries are chosen by researcher according to the field of application, mechanism of action, advantages, and proper structures of primer/probes.

Keywords: fluorescent dye, food safety, molecular probes, nucleic acid analogues

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Authors: Sultan Mahmud, Qamar Zaman, Travis Esau, Young Chang

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Strawberry powdery mildew (PM) is a serious disease that has a significant impact on strawberry production. Field scouting is still a major way to find PM disease, which is not only labor intensive but also almost impossible to monitor disease severity. To reduce the loss caused by PM disease and achieve faster automatic detection of the disease, this paper proposes an approach for detection of the disease, based on image texture and classified with support vector machines (SVMs) and k-nearest neighbors (kNNs). The methodology of the proposed study is based on image processing which is composed of five main steps including image acquisition, pre-processing, segmentation, features extraction and classification. Two strawberry fields were used in this study. Images of healthy leaves and leaves infected with PM (Sphaerotheca macularis) disease under artificial cloud lighting condition. Colour thresholding was utilized to segment all images before textural analysis. Colour co-occurrence matrix (CCM) was introduced for extraction of textural features. Forty textural features, related to a physiological parameter of leaves were extracted from CCM of National television system committee (NTSC) luminance, hue, saturation and intensity (HSI) images. The normalized feature data were utilized for training and validation, respectively, using developed classifiers. The classifiers have experimented with internal, external and cross-validations. The best classifier was selected based on their performance and accuracy. Experimental results suggested that SVMs classifier showed 98.33%, 85.33%, 87.33%, 93.33% and 95.0% of accuracy on internal, external-I, external-II, 4-fold cross and 5-fold cross-validation, respectively. Whereas, kNNs results represented 90.0%, 72.00%, 74.66%, 89.33% and 90.3% of classification accuracy, respectively. The outcome of this study demonstrated that SVMs classified PM disease with a highest overall accuracy of 91.86% and 1.1211 seconds of processing time. Therefore, overall results concluded that the proposed study can significantly support an accurate and automatic identification and recognition of strawberry PM disease with SVMs classifier.

Keywords: powdery mildew, image processing, textural analysis, color co-occurrence matrix, support vector machines, k-nearest neighbors

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Authors: Omar Youssef, Aija Knuuttila, Paivi Piirilä, Virinder Sarhadi, Sakari Knuutila

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Exhaled breath condensate (EBC) is a unique sample that allows studying different genetic changes in lung carcinoma through a non-invasive way. With the aid of next generation sequencing (NGS) technology, analysis of genetic mutations has been more efficient with increased sensitivity for detection of genetic variants. In order to investigate the possibility of applying this method for cancer diagnostics, mutations in EBC DNA from lung cancer patients and healthy individuals were studied by using NGS. The key aim is to assess the feasibility of using this approach to detect clinically important mutations in EBC. EBC was collected from 20 healthy individuals and 9 lung cancer patients (four lung adenocarcinomas, four 8 squamous cell carcinoma, and one case of mesothelioma). Mutations in hotpot regions of 22 genes were studied by using Ampliseq Colon and Lung cancer panel and sequenced on Ion PGM. Results demonstrated that all nine patients showed a total of 19 cosmic mutations in APC, BRAF, EGFR, ERBB4, FBXW7, FGFR1, KRAS, MAP2K1, NRAS, PIK3CA, PTEN, RET, SMAD4, and TP53. In controls, 15 individuals showed 35 cosmic mutations in BRAF, CTNNB1, DDR2, EGFR, ERBB2, FBXW7, FGFR3, KRAS, MET, NOTCH1, NRAS, PIK3CA, PTEN, SMAD4, and TP53. Additionally, 45 novel mutations not reported previously were also seen in patients’ samples, and 106 novel mutations were seen in controls’ specimens. KRAS exon 2 mutations G12D was identified in one control specimen with mutant allele fraction of 6.8%, while KRAS G13D mutation seen in one patient sample showed mutant allele fraction of 17%. These findings illustrate that hotspot mutations are present in DNA from EBC of both cancer patients and healthy controls. As some of the cosmic mutations were seen in controls too, no firm conclusion can be drawn on the clinical importance of cosmic mutations in patients. Mutations reported in controls could represent early neoplastic changes or normal homeostatic process of apoptosis occurring in lung tissue to get rid of mutant cells. At the same time, mutations detected in patients might represent a non-invasive easily accessible way for early cancer detection. Follow up of individuals with important cancer mutations is necessary to clarify the significance of these mutations in both healthy individuals and cancer patients.

Keywords: exhaled breath condensate, lung cancer, mutations, next generation sequencing

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Authors: Faraz Zarghami, Elham Anari, Nosratollah Zarghami, Yones Pilehvar-Soltanahmadi, Abolfazl Akbarzadeh, Sepideh Jalilzadeh-Tabrizi

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The development of nanotherapy has presented a new method of drug delivery targeted directly to the neoplasmic tissues, to maximize the action with fewer dose requirements. In the past two decades, poly(lactic-co-glycolic acid) (PLGA) has frequently been investigated by many researchers and is a popular polymeric candidate, due to its biocompatibility and biodegradability, exhibition of a wide range of erosion times, tunable mechanical properties, and most notably, because it is a FDA-approved polymer. Chrysin is a natural flavonoid which has been reported to have some significant biological effects on the processes of chemical defense, nitrogen fixation, inflammation, and oxidation. However, the low solubility in water decreases its bioavailability and consequently disrupts the biomedical benefits. Being loaded with PLGA-PEG increases chrysin solubility and drug tolerance, and decreases the discordant effects of the drug. The well-structured chrysin efficiently accumulates in the breast cancer cell line (T47D). In the present study, the structure and chrysin loading were delineated using proton nuclear magnetic resonance (HNMR), Fourier-transform infrared spectroscopy (FT-IR), and scanning electron microscopy (SEM), and the in vitro cytotoxicity of pure and nanochrysin was studied by the MTT assay. Next, the RNA was exploited and the cytotoxic effects of chrysin were studied by real-time PCR. In conclusion, the nanochrysin therapy developed is a novel method that could increase cytotoxicity to cancer cells without damaging the normal cells, and would be promising in breast cancer therapy.

Keywords: MTT assay, chrysin, flavonoids, nanotherapy

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Authors: Sana Gul, Sheeba Murad, Aneela Javed

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Introduction: Human Papilloma Virus (HPV) is small DNA virus mostly infecting mucosa and cutaneous keratinocytes. So far, more than 200 Human papillomaviruses are known. HPV have been divided into high- and low-risk on the basis of their oncogenic potential. High risk HPV is considered to be the main etiological cause for cervical cancer. Objective: Current study was designed to screen the local cervical cancer patients from the twin cities of Pakistan for the occurance of high risk HPV. Methodology: A total of 67 formalin fixed paraffin-embedded samples of cervical cancer biopsies were obtained from the government hospitals in Islamabad and Rawalpindi. Cervical cancer biopsies were examined for the presence of HPV DNA. Polymerase chain reaction (PCR) was used for the amplification of a region in the HPV-L1 gene for the general detection of the Papilloma virus and for the genotype specific detection of high risk HPV 16 and 18 using the GP5/GP6 primers and genotype specific primers respectively. Results: HPV DNA was detected in 59 out of 67 samples analyzed. 30 samples showed the presence of HPV16 while 22 samples were positive for HPV 18 . HPV subtype could not be determined in 7 samples. Conclusion: Our results show a strong association between HPV infection and cervical cancer among women in twin cities of Pakistan. One way to minimize the disease burden in relation to HPV infection in Pakistani population is the use of prophylactic vaccines and routine screening. An early diagnosis of HPV infection will allow better health management to reduce the risk of developing cervical cancer.

Keywords: cervical cancer, Pakistan, human papillomavirus, HPV 16

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Authors: Mayuva Youngsabanant, Suphaphorn Rabiab, Hatairuk Tungkasen, Nongnuch Gumlungpat, Mayuree Pumipaiboon

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The porcine follicular fluid proteins (pFF) of healthy small size ovarian follicles (1-3 mm in diameters) of Large White pig ovaries were collected by sterile technique. They were used for testing the effect on cell viability and characterization of Vero cell lines using MTT assay. Two hundred microliter of round shape Vero cell lines were culture in 96 well plates with DMEM for 24 h. After that, they were attachment to substrate and some changed into fibroblast shape and spread over the surface after culture for 48 h. Then, Vero cell lines were treated with pFF at concentration of 2, 4, 20, 40, 200, 400, 500, and 600 µg proteins/mL for 24 h. Yields of the best results were analyzed by using one-way ANOVA. MTT assay reviewed an increasing in percentage of viability of Vero cell lines indicated that at concentration of 400-600 µg proteins/mL showed higher percentage of viability (115.64 ± 6.95, 106.91 ± 5.27 and 116.73 ± 20.15) than control group. They were significantly different from the control group (p < 0.05) but lower than the positive control group (DMEM with 10% heat treated fetal bovine serum). Cell lines showed normal character in fibroblast elongate shape after treated with pFF except in high concentration of pFF. This result implies that pFF of small size ovarian follicle at concentration of 400-600 µg proteins/mL could be optimized concentration for using as a supplement in Vero cell line culture medium to promote cell viability instead of growth hormone from fetal bovine serum. This merit could be applied in other cell biotechnology researches. Acknowledgements: This work was funded by a grant from Silpakorn University and Faculty of Science, Silpakorn University, Thailand.

Keywords: cell viability, porcine follicular fluid, MTT assay, Vero cell line

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Authors: Chen Wang, Jared Evans, Yan Asmann

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With the quick evolvement of next-generation sequencing techniques, whole-exome or exome-panel data have become a cost-effective way for detection of small exonic mutations, but there has been a growing desire to accurately detect copy number variations (CNVs) as well. In order to address this research and clinical needs, we developed a sequencing coverage pattern-based method not only for copy number detections, data integrity checks, CNV calling, and visualization reports. The developed methodologies include complete automation to increase usability, genome content-coverage bias correction, CNV segmentation, data quality reports, and publication quality images. Automatic identification and removal of poor quality outlier samples were made automatically. Multiple experimental batches were routinely detected and further reduced for a clean subset of samples before analysis. Algorithm improvements were also made to improve somatic CNV detection as well as germline CNV detection in trio family. Additionally, a set of utilities was included to facilitate users for producing CNV plots in focused genes of interest. We demonstrate the somatic CNV enhancements by accurately detecting CNVs in whole exome-wide data from the cancer genome atlas cancer samples and a lymphoma case study with paired tumor and normal samples. We also showed our efficient reuses of existing exome sequencing data, for improved germline CNV calling in a family of the trio from the phase-III study of 1000 Genome to detect CNVs with various modes of inheritance. The performance of the developed method is evaluated by comparing CNV calling results with results from other orthogonal copy number platforms. Through our case studies, reuses of exome sequencing data for calling CNVs have several noticeable functionalities, including a better quality control for exome sequencing data, improved joint analysis with single nucleotide variant calls, and novel genomic discovery of under-utilized existing whole exome and custom exome panel data.

Keywords: bioinformatics, computational genetics, copy number variations, data reuse, exome sequencing, next generation sequencing

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Authors: Bivek Bhusal, Ana Legrand

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Detection of crop stress is one of the major applications of remote sensing in agriculture. Multiple studies have demonstrated the capability of remote sensing using Unmanned Aerial Vehicle (UAV)-based multispectral imagery for detection of plant stress, but none so far on Nitrogen (N) stress and PLH feeding stress on green beans. In view of its wide host range, geographical distribution, and damage potential, Potato leafhopper- Empoasca fabae (Harris) has been emerging as a key pest in several countries. Monitoring methods for potato leafhopper (PLH) damage, as well as the laboratory techniques for detecting Nitrogen deficiency, are time-consuming and not always easily affordable. A study was initiated to demonstrate if the multispectral sensor attached to a drone can detect PLH stress and N deficiency in beans. Small-plot trials were conducted in the summer of 2023, where cages were used to manipulate PLH infestation in green beans (Provider cultivar) at their first-trifoliate stage. Half of the bean plots were introduced with PLH, and the others were kept insect-free. Half of these plots were grown with the recommended amount of N, and the others were grown without N. Canopy reflectance was captured using a five-band multispectral sensor. Our findings indicate that drone imagery could detect stress due to a lack of N and PLH damage in beans.

Keywords: potato leafhopper, nitrogen, remote sensing, spectral reflectance, beans

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Authors: Rhea Kapoor

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Fractal dimension provides a way to characterize non-geometric shapes like those found in nature. The purpose of this research is to estimate Minkowski fractal dimension of human lung images for early detection of lung cancer. Lung cancer is the leading cause of death among all types of cancer and an early histopathological analysis will help reduce deaths primarily due to late diagnosis. A Python application program, PathoPy2.0, was developed for analyzing medical images in pixelated format and estimating Minkowski fractal dimension using a new box-counting algorithm that allows windowing of images for more accurate calculation in the suspected areas of cancerous growth. Benchmark geometric fractals were used to validate the accuracy of the program and changes in fractal dimension of lung images to indicate the presence of issues in the lung. The accuracy of the program for the benchmark examples was between 93-99% of known values of the fractal dimensions. Fractal dimension values were then calculated for lung images, from National Cancer Institute, taken over time to correctly detect the presence of cancerous growth. For example, as the fractal dimension for a given lung increased from 1.19 to 1.27 due to cancerous growth, it represents a significant change in fractal dimension which lies between 1 and 2 for 2-D images. Based on the results obtained on many lung test cases, it was concluded that fractal dimension of human lungs can be used to diagnose lung cancer early. The ideas behind PathoPy2.0 can also be applied to study patterns in the electrical activity of the human brain and DNA matching.

Keywords: fractals, histopathological analysis, image processing, lung cancer, Minkowski dimension

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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