Search results for: candidate gene of type-2 diabetes
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3003

Search results for: candidate gene of type-2 diabetes

1203 Testing Ammonia Borane for Multilayer Aprons in Nuclear Medicine as a Promising Non-toxic, Lightweight, Hydrogen Rich Material and to Enhance the Efficiency of Aprons for Workers Who Deal with Neutrons Radiation in Nuclear Medicine

Authors: Wed Othman Alghamdi

Abstract:

The current study aims to find a non-toxic, low density, hydrogen-rich material that can be used in aprons without causing health issues for nuclear medical workers that could hinder their work and negatively affect patients. Five samples were tested in terms of fast neutron removal cross-section(C21H25ClO5, C2H4, LiH,H3NBH3,MgH2) mathematically using computer program called Phy-x/PSD it is a computer program designed to calculate the fast neutron removal cross section, and it was obtained that ammonia borane (đ»3đ‘đ”đ»3) with a density of 0.78 (g/ cm3) ,And it containment of the three most important elements that play a major role in protection shields, which are (hydrogen, boron, nitrogen), Hydrogen works as a moderator that slows neutrons and turn them into thermal neutrons, boron and nitrogen both have the largest neutron absorption cross section. Ammonia borane has the highest fast neutron removal cross-section with the value of (0.122959317985393cm-1) and the least for polyethylene (đ¶2đ»4) with the value of (0.0838038707225853 cm-1) which made the ammonia borane a better candidate than polyethylene and other compounds that have been tasted in previous research for multi-layer aprons in nuclear medicine, and may approve a proper protection against the hazard radiations that its produced in nuclear medicine filed by several ways, due to it is low density and non-toxicity.

Keywords: aprons, radiation, non-toxic, nuclear medicine, neutrons

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1202 Ab-initio Calculations on the Mechanism of Action of Platinum and Ruthenium Complexes in Phototherapy

Authors: Eslam Dabbish, Fortuna Ponte, Stefano Scoditti, Emilia Sicilia, Gloria Mazzone

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The medical techniques based on the use of light for activating the drug are occupying a prominent place in the cancer treatment due to their selectivity that contributes to reduce undesirable side effects of conventional chemotherapy. Among these therapeutic treatments, photodynamic therapy (PDT) and photoactivated chemotherapy (PACT) are emerging as complementary approaches for selective destruction of neoplastic tissue through direct cellular damage. Both techniques rely on the employment of a molecule, photosensitizer (PS), able to absorb within the so-called therapeutic window. Thus, the exposure to light of otherwise inert molecules promotes the population of excited states of the drug, that in PDT are able to produce the cytotoxic species, such as 1O2 and other ROS, in PACT can be responsible of the active species release or formation. Following the success of cisplatin in conventional treatments, many other transition metal complexes were explored as anticancer agents for applications in different medical approaches, including PDT and PACT, in order to improve their chemical, biological and photophysical properties. In this field, several crucial characteristics of candidate PSs can be accurately predicted from first principle calculations, especially in the framework of density functional theory and its time-dependent formulation, contributing to the understanding of the entire photochemical pathways involved which can ultimately help in improving the efficiency of a drug. A brief overview of the outcomes on some platinum and ruthenium-based PSs proposed for the application in the two phototherapies will be provided.

Keywords: TDDFT, metal complexes, PACT, PDT

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1201 Fabrication of Pure and Doped MAPbI3 Thin Films by One Step Chemical Vapor Deposition Method for Energy Harvesting Applications

Authors: S. V. N. Pammi, Soon-Gil Yoon

Abstract:

In the present study, we report a facile chemical vapor deposition (CVD) method for Perovskite MAPbI3 thin films by doping with Br and Cl. We performed a systematic optimization of CVD parameters such as deposition temperature, working pressure and annealing time and temperature to obtain high-quality films of CH3NH3PbI3, CH3NH3PbI3-xBrx and CH3NH3PbI3-xClx perovskite. Scanning electron microscopy and X-ray Diffraction pattern showed that the perovskite films have a large grain size when compared to traditional spin coated thin films. To the best of our knowledge, there are very few reports on highly quality perovskite thin films by various doping such as Br and Cl using one step CVD and there is scope for significant improvement in device efficiency. In addition, their band-gap can be conveniently and widely tuned via doping process. This deposition process produces perovskite thin films with large grain size, long diffusion length and high surface coverage. The enhancement of the output power, CH3NH3PbI3 (MAPbI3) dye films when compared to spin coated films and enhancement in output power by doping in doped films was demonstrated in detail. The facile one-step method for deposition of perovskite thin films shows a potential candidate for photovoltaic and energy harvesting applications.

Keywords: perovskite thin films, chemical vapor deposition, energy harvesting, photovoltaics

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1200 Improved Blood Glucose-Insulin Monitoring with Dual-Layer Predictive Control Design

Authors: Vahid Nademi

Abstract:

In response to widely used wearable medical devices equipped with a continuous glucose monitor (CGM) and insulin pump, the advanced control methods are still demanding to get the full benefit of these devices. Unlike costly clinical trials, implementing effective insulin-glucose control strategies can provide significant contributions to the patients suffering from chronic diseases such as diabetes. This study deals with a key role of two-layer insulin-glucose regulator based on model-predictive-control (MPC) scheme so that the patient’s predicted glucose profile is in compliance with the insulin level injected through insulin pump automatically. It is achieved by iterative optimization algorithm which is called an integrated perturbation analysis and sequential quadratic programming (IPA-SQP) solver for handling uncertainties due to unexpected variations in glucose-insulin values and body’s characteristics. The feasibility evaluation of the discussed control approach is also studied by means of numerical simulations of two case scenarios via measured data. The obtained results are presented to verify the superior and reliable performance of the proposed control scheme with no negative impact on patient safety.

Keywords: blood glucose monitoring, insulin pump, predictive control, optimization

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1199 Identification and Differentiation of Fagonia Arabica and Fagonia Indica by Using DNA Barcode Region Matk

Authors: Noshaba Dilbar, Aisha Tahir, Amer Jamil

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During the last decade, DNA barcoding proved to be an authentic tool for discovery and identification of plants. In the present study, DNA barcoding of two species, Fagonia arabica and Fagonia indica was done for differentiation by using matK region. matK gene is considered as a universal barcode because of its easy alignment and high discrimination ability. In this study, matK yielded 100% sequencing results. The sequences from both plants were aligned at clustal W and observed that there is no nucleotide variation and polymorphism among both sequences. This was further analysed by BLAST which showed the similar sequences from different plants belonging to same family but didn’t find sequence of both species. Considering this, the resulted sequence was submitted by the name of Fagonia arabica with accession number KM276890. In the end, we analysed the results from BOLD which gave us the final conclusion that both plants are same as their matK sequences are 100% identical. In literature, both Fagonia indica and Fagonia arabica names are used for this plant but there is no clear differentiation has been observed in these plants. Results evaluate that Fagonia indica and Fagonia arabica are the alternative names of same plant.

Keywords: DNA barcoding, Fagonia arabica, Fagonia indica, matK

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1198 Mechanical Properties of Powder Metallurgy Processed Biodegradable Zn-Based Alloy for Biomedical Application

Authors: Maruf Yinka Kolawole, Jacob Olayiwola Aweda, Farasat Iqbal, Asif Ali, Sulaiman Abdulkareem

Abstract:

Zinc is a non-ferrous metal with potential application in orthopaedic implant materials. However, its poor mechanical properties were major challenge to its application. Therefore, this paper studies the mechanical properties of biodegradable Zn-based alloy for biomedical application. Pure zinc powder with varying (0, 1, 2, 3 & 6) wt% of magnesium powders were ball milled using ball-to-powder ratio (B:P) of 10:1 at 350 rpm for 4 hours. The resulting milled powders were compacted and sintered at 300 MPa and 350 °C respectively. Microstructural, phase and mechanical properties analyses were performed following American standard of testing and measurement. The results show that magnesium has influence on the mechanical properties of zinc. The compressive strength, hardness and elastic modulus of 210 ± 8.878 MPa, 76 ± 5.707 HV and 45 ± 11.616 GPa respectively as obtained in Zn-2Mg alloy were optimum and meet the minimum requirement of biodegradable metal for orthopaedics application. These results indicate an increase of 111, 93 and 93% in compressive strength, hardness and elastic modulus respectively as compared to pure zinc. The increase in mechanical properties was adduced to effectiveness of compaction pressure and intermetallic phase formation within the matrix resulting in high dislocation density for improving strength. The study concluded that, Zn-2Mg alloy with optimum mechanical properties can therefore be considered a potential candidate for orthopaedic application.

Keywords: Biodegradable metal, Biomedical application, Mechanical properties, Powder Metallurgy, Zinc

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1197 Thyroid Hormones and Thyrotropin Status in Nepalese Postmenopausal Women

Authors: S. A. Khan, B. Mishra, O. Sherchan

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Background and Aims: Thyroid disorder is the most common endocrine disorder after diabetes mellitus. Females are more vulnerable to this disease, and old age is an important risk factor. This study was undertaken to investigate the burden of thyroid disorder in Nepalese postmenopausal women. Methods: In the present cross-sectional study, we included 271 post-menopausal women. Three ml of blood was collected following standard protocol after taking the written consent. Serum was separated and analyzed for free T3, free T4, and Thyroid Stimulating Hormone (TSH) by Chemiluminescence Immunoassay (CLIA) method in Snibe Maglumi 1000 analyzer. Data obtained was analyzed in SPSS Version 21. P < 0.05 was set for statistical significant at 95% Confidence Interval (CI). Results: Majority of the participants belong to Janjati (46.5%) ethnicity, followed by Brahmin/Chhetri (41.7%), residing either in urban or suburban locality. Most of them were non-vegetarian, non-smoker, and non-alcoholic. Subjects were divided into hyperthyroid (TSH < 0.3 uIU/ml), hypothyroid (TSH > 4.5 uIU/ml), and euthyroid (TSH=0.3-4.5 uIU/ml) based on TSH value. We reported 10.3% hyperthyroid and 29.2% hypothyroid cases. TSH was significantly correlated with T3 (r=-0.244; p < 0.001) T4 (r=-0.398; p < 0.001); age (r=-0.138; p=0.023) and BMI (r=0.123; p=0.043). Multiple linear regression model for TSH reveals only T3 and T4 were significantly associated with TSH (p < 0.001; p=0.001). Conclusion: To conclude, nearly 39.5% of the postmenopausal women had thyroid disorder. Postmenopausal women are vulnerable to thyroid disorder; therefore, requires regular thyroid monitoring.

Keywords: thyroid stimulating hormone, TSH, T3, T4, thyroid disorder

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1196 Cleaner Production Options for Fishery Wastes Around Lake Tana-Ethiopia

Authors: Abate Getnet Demisash, Beshatu Taye Hatew, Ababo Geleta Gudisa

Abstract:

As consumption trends of fish are rising in Ethiopia, assessment of the environmental performance of Fisheries becomes vital. Hence, Cleaner Production Assessment was conducted on Lake Tana No.1 Fish Supply Association. This paper focuses on determining the characteristics, quantity and setting up cleaner production option for the site with experimental investigation. The survey analysis showed that illegal waste dumping in Lake Tana is common practice in the area and some of the main reasons raised were they have no option than doing this for discharging fish wastes. Quantifying a fish waste by examination of records at the point of generation resulted in generation rate of 72,822.61 kg per year which is a significant amount of waste and needs management system. The result of the proximate analysis showed high free fat content of about 12.33% and this was a good candidate for the production of biodiesel that has been set as an option for fish waste utilization. Among the different waste management options, waste reduction by product optimization which involves biodiesel production was chosen as a potential method. Laboratory scale experiments were performed to produce renewable energy source from the wastes. The resulting biodiesel was characterized and found to have a density of 0.756kg/L, viscosity 0.24p and 153°C flash points which shows the product has values in compliance with American Society for Testing and Materials (ASTM) standards.

Keywords: biodiesel, cleaner production, renewable energy, clean energy, waste to energy

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1195 Systemic Factors, Intraocular Lens, and Ocular Abnormalities in Patients with Intraocular Lens Glistening at a Tertiary Hospital in Semarang

Authors: Azmi Ilmi Aziz, Wisnu Sadasih, Rizal Fanany

Abstract:

Purpose: This study describes systemic factors, intraocular lens (IOL), and ocular abnormalities in patients with IOL glistening at a tertiary hospital in Semarang. Methods: A retrospective, with a descriptive approach on patients with IOL glistening who visited the eye clinic between August 2019 to June 2023. Results: Twenty-five patients were examined; 11 patients (44%) had IOL glistening in their right eye, 4 patients (16%) in their left eye, and 10 patients (40%) in both eyes. The gender of patients consisted of 12 male patients (48%) and 13 female patients (52%). The median age of the patients was 68 years. The mean onset was 4.44 years after the first cataract surgery. Hypertension was found in 13 patients (52%), and diabetes was found in 9 patients (36%). Nine patients (36%) were identified with a foldable IOL with a closed loop design, and 1 patient (4%) with a PMMA IOL with an iris-fixated IOL design, while 15 other patients’ IOL were unrecorded. Glaucoma was found in 3 patients (12%). Conclusions: The result of this study showed that more than half of the patients were hypertensive, and some were glaucomatous, which had been discussed relevant in previous studies. Most IOL that could be identified was foldable IOL with a closed loop design. To our knowledge, the design of an IOL to glistening had never been explored. A longer study involving larger subjects is needed to better describe the systemic factors, IOL, and ocular abnormalities in patients with IOL glistening.

Keywords: glistening, intraocular lens, foldable IOL, PMMA IOL

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1194 Development of an Aptamer-Molecularly Imprinted Polymer Based Electrochemical Sensor to Detect Pathogenic Bacteria

Authors: Meltem Agar, Maisem Laabei, Hannah Leese, Pedro Estrela

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Pathogenic bacteria and the diseases they cause have become a global problem. Their early detection is vital and can only be possible by detecting the bacteria causing the disease accurately and rapidly. Great progress has been made in this field with the use of biosensors. Molecularly imprinted polymers have gain broad interest because of their excellent properties over natural receptors, such as being stable in a variety of conditions, inexpensive, biocompatible and having long shelf life. These properties make molecularly imprinted polymers an attractive candidate to be used in biosensors. In this study it is aimed to produce an aptamer-molecularly imprinted polymer based electrochemical sensor by utilizing the properties of molecularly imprinted polymers coupled with the enhanced specificity offered by DNA aptamers. These ‘apta-MIP’ sensors were used for the detection of Staphylococcus aureus and Escherichia coli. The experimental parameters for the fabrication of sensor were optimized, and detection of the bacteria was evaluated via Electrochemical Impedance Spectroscopy. Sensitivity and selectivity experiments were conducted. Furthermore, molecularly imprinted polymer only and aptamer only electrochemical sensors were produced separately, and their performance were compared with the electrochemical sensor produced in this study. Aptamer-molecularly imprinted polymer based electrochemical sensor showed good sensitivity and selectivity in terms of detection of Staphylococcus aureus and Escherichia coli. The performance of the sensor was assessed in buffer solution and tap water.

Keywords: aptamer, electrochemical sensor, staphylococcus aureus, molecularly imprinted polymer

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1193 Design of Multiband Microstrip Antenna Using Stepped Cut Method for WLAN/WiMAX and C/Ku-Band Applications

Authors: Ahmed Boutejdar, Bishoy I. Halim, Soumia El Hani, Larbi Bellarbi, Amal Afyf

Abstract:

In this paper, a planar monopole antenna for multi band applications is proposed. The antenna structure operates at three operating frequencies at 3.7, 6.2, and 13.5 GHz which cover different communication frequency ranges. The antenna consists of a quasi-modified rectangular radiating patch with a partial ground plane and two parasitic elements (open-loop-ring resonators) to serve as coupling-bridges. A stepped cut at lower corners of the radiating patch and the partial ground plane are used, to achieve the multiband features. The proposed antenna is manufactured on the FR4 substrate and is simulated and optimized using High Frequency Simulation System (HFSS). The antenna topology possesses an area of 30.5 x 30 x 1.6 mm3. The measured results demonstrate that the candidate antenna has impedance bandwidths for 10 dB return loss and operates from 3.80 – 3.90 GHz, 4.10 – 5.20 GHz, 11.2 – 11.5 GHz and from 12.5 – 14.0 GHz, which meet the requirements of the wireless local area network (WLAN), worldwide interoperability for microwave access (WiMAX), C- (Uplink) and Ku- (Uplink) band applications. Acceptable agreement is obtained between measurement and simulation results. Experimental results show that the antenna is successfully simulated and measured, and the tri-band antenna can be achieved by adjusting the lengths of the three elements and it gives good gains across all the operation bands.

Keywords: planar monopole antenna, FR4 substrate, HFSS, WLAN, WiMAX, C and Ku

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1192 Nutraceutical Potential of Mushroom Bioactive Metabolites and Their Food Functionality

Authors: Jackson Ishara, Ariel Buzera, Gustave N. Mushagalusa, Ahmed R. A. Hammam, Judith Munga, Paul Karanja, John Kinyuru

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Numerous mushroom bioactive metabolites, including polysaccharides, eritadenine, lignin, chitosan, mevinolin, and astrakurkurone have been studied in life-threatening conditions and diseases such as diabetes, cardiovascular, hypertension, cancer, DNA damage, hypercholesterolemia, and obesity attempting to identify natural therapies. These bioactive metabolites have shown potential as antiviral and immune system strengthener natural agents through diverse cellular and physiological pathways modulation with no toxicity evidence, widely available, and affordable. In light of the emerging literature, this paper compiles the most recent information describing the molecular mechanisms that underlie the nutraceutical potentials of these mushroom metabolites suggesting their effectiveness if combined with existing drug therapies. The findings raise hope that these mushroom bioactive metabolites may be utilized as natural therapies considering their therapeutic potential while anticipating further research designing clinical trials and developing new drug therapies while encouraging their consumption as a natural adjuvant in preventing and controlling life-threatening conditions and diseases.

Keywords: bioactive metabolites, food functionality, health-threatening conditions, mushrooms, nutraceutical

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1191 Electrochemical Sensor Based on Poly(Pyrogallol) for the Simultaneous Detection of Phenolic Compounds and Nitrite in Wastewater

Authors: Majid Farsadrooh, Najmeh Sabbaghi, Seyed Mohammad Mostashari, Abolhasan Moradi

Abstract:

Phenolic compounds are chief environmental contaminants on account of their hazardous and toxic nature on human health. The preparation of sensitive and potent chemosensors to monitor emerging pollution in water and effluent samples has received great consideration. A novel and versatile nanocomposite sensor based on poly pyrogallol is presented for the first time in this study, and its electrochemical behavior for simultaneous detection of hydroquinone (HQ), catechol (CT), and resorcinol (RS) in the presence of nitrite is evaluated. The physicochemical characteristics of the fabricated nanocomposite were investigated by emission-scanning electron microscopy (FE-SEM), energy-dispersive X-ray spectroscopy (EDS), and Brunauer-Emmett-Teller (BET). The electrochemical response of the proposed sensor to the detection of HQ, CT, RS, and nitrite is studied using cyclic voltammetry (CV), chronoamperometry (CA), differential pulse voltammetry (DPV), and electrochemical impedance spectroscopy (EIS). The kinetic characterization of the prepared sensor showed that both adsorption and diffusion processes can control reactions at the electrode. In the optimized conditions, the new chemosensor provides a wide linear range of 0.5-236.3, 0.8-236.3, 0.9-236.3, and 1.2-236.3 ÎŒM with a low limit of detection of 21.1, 51.4, 98.9, and 110.8 nM (S/N = 3) for HQ, CT and RS, and nitrite, respectively. Remarkably, the electrochemical sensor has outstanding selectivity, repeatability, and stability and is successfully employed for the detection of RS, CT, HQ, and nitrite in real water samples with the recovery of 96.2%–102.4%, 97.8%-102.6%, 98.0%–102.4% and 98.4%–103.2% for RS, CT, HQ, and nitrite, respectively. These outcomes illustrate that poly pyrogallol is a promising candidate for effective electrochemical detection of dihydroxybenzene isomers in the presence of nitrite.

Keywords: electrochemical sensor, poly pyrogallol, phenolic compounds, simultaneous determination

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1190 Increasing Efficiency of Own Used Fuel Gas by “LOTION” Method in Generating Systems PT. Pertamina EP Cepu Donggi Matindok Field in Central Sulawesi Province, Indonesia

Authors: Ridwan Kiay Demak, Firmansyahrullah, Muchammad Sibro Mulis, Eko Tri Wasisto, Nixon Poltak Frederic, Agung Putu Andika, Lapo Ajis Kamamu, Muhammad Sobirin, Kornelius Eppang

Abstract:

PC Prove LSM successfully improved the efficiency of Own Used Fuel Gas with the "Lotion" method in the PT Pertamina EP Cepu Donggi Matindok Generating System. The innovation of using the "LOTION" (LOAD PRIORITY SELECTION) method in the generating system is modeling that can provide a priority qualification of main and non-main equipment to keep gas processing running even though it leaves 1 GTG operating. GTG operating system has been integrated, controlled, and monitored properly through PC programs and web-based access to answer Industry 4.0 problems. The results of these improvements have succeeded in making Donggi Matindok Field Production reach 98.77 MMSCFD and become a proper EMAS candidate in 2022-2023. Additional revenue from increasing the efficiency of the use of own used gas amounting to USD USD 5.06 Million per year and reducing operational costs from maintenance efficiency (ABO) due to saving running hours GTG amounted to USD 3.26 Million per year. Continuity of fuel gas availability for the GTG generation system can maintain the operational reliability of the plant, which is 3.833333 MMSCFD. And reduced gas emissions wasted to the environment by 33,810 tons of C02 eq per year.

Keywords: LOTION method, load priority selection, fuel gas efficiency, gas turbine generator, reduce emissions

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1189 The Existence of a Sciatic Artery in Congenital Lower Limb Deformities

Authors: Waseem Al Talalwah, Shorok Al Dorazi, Roger Soames

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Persistent sciatic artery is a rare anatomical vascular variation resulting from a lack of regression of the embryonic dorsal axial artery. The axial artery is the main artery supplying the lower limb during development in the first trimester. The current research includes 206 sciatic artery cases in 171 patients between 1864 and 2012. It aims to identify the risk factor of sciatic artery aneurysm in congenital limb anomalies. Sciatic artery aneurysm was diagnosed incidentally in amniotic band syndrome (ABS) existing with no congenital anomaly in 0.7% or with double knee in 0.7%, with the tibia in 0.7% and with hemihypertrophy or soft tissue hypertrophy in 1.4%. Therefore, the current study indicates a relationship the same gene responsible for the congenital limb deformities may be responsible for non-regression of the sciatic artery. Furthermore, pediatricians should refer cases of congenital limb anomalies for vascular evaluation prior to corrective surgical intervention.

Keywords: amniotic band syndrome, congenital limb deformities, double knee, sciatic artery, sciatic artery aneurysm , soft tissue hypertrophy

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1188 Phylogenetic Analysis and a Review of the History of the Accidental Phytoplankter, Phaeodactylum tricornutum Bohlin (Bacillariophyta)

Authors: Jamal S. M. Sabir, Edward C. Theriot, Schonna R. Manning, Abdulrahman L. Al-Malki, Mohammad, Mumdooh J. Sabir, Dwight K. Romanovicz, Nahid H. Hajrah, Robert K. Jansen, Matt P. Ashworth

Abstract:

The diatom Phaeodactylum tricornutum has been used as a model for cell biologists and ecologists for over a century. We have incorporated several new raphid pennates into a three-gene phylogenetic dataset (SSU, rbcL, psbC), and recover Gomphonemopsis sp. as sister to P. tricornutum with 100% BS support. This is the first time a close relative has been identified for P. tricornutum with robust statistical support. We test and reject a succession of hypotheses for other relatives. Our molecular data are statistically significantly incongruent with placement of either or both species among the Cymbellales, an order of diatoms with which both have been associated. We believe that further resolution of the phylogenetic position of P. tricornutum will rely more on increased taxon sampling than increased genetic sampling. Gomphonemopsis is a benthic diatom, and its phylogenetic relationship with P. tricornutum is congruent with the hypothesis that P. tricornutum is a benthic diatom with specific adaptations that lead to active recruitment into the plankton. We hypothesize that other benthic diatoms are likely to have similar adaptations and are not merely passively recruited into the plankton.

Keywords: benthic, diatoms; ecology, Phaeodactylum tricornutum, phylogeny, tychoplankton

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1187 Disease Characteristics of Neurofibromatosis Type II and Cochlear Implantation

Authors: Boxiang Zhuang

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This study analyzes the clinical manifestations, hearing rehabilitation methods and outcomes of a complex case of neurofibromatosis type II (NF2). Methods: The clinical manifestations, medical history, clinical data, surgical methods and postoperative hearing rehabilitation outcomes of an NF2 patient were analyzed to determine the hearing reconstruction method and postoperative effect for a special type of NF2 acoustic neuroma. Results: The patient had bilateral acoustic neuromas with profound sensorineural hearing loss in both ears. Peripheral blood genetic testing did not reveal pathogenic gene mutations, suggesting mosaicism. The patient had an intracochlear schwannoma in the right ear and severely impaired vision in both eyes. Cochlear implantation with tumor retention was performed in the right ear. After 2 months of family-based auditory and speech rehabilitation, the Categories of Auditory Performance (CAP) score improved from 0 to 5. Conclusion: NF2 has complex clinical manifestations and poor prognosis. For NF2 patients with intracochlear tumors, cochlear implantation with tumor retention can be used to reconstruct hearing.

Keywords: NF2, intracochlear schwannoma, hearing reconstruction, cochlear implantation

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1186 The Effect of Ceramic Powder on Compacting Concrete

Authors: Yeshanbel Mekuryaw Mulu

Abstract:

Concrete technology is advanced through time, and self-compacting concrete is one among many advancements in the concrete industry. The high powder content of self-compacting concrete (SCC) mixtures is needed to maintain adequate stability/cohesion of the mixture and thus improve segregation. It is not ideal to use high cement content to satisfy the need for high powder, as it will increase the cost and have other adverse effects on concrete properties. The main objective of the study is to investigate WCP pozzolanic characteristics and evaluate SCC properties by partially replacing cement with 5%, 10%, 15% and 20% WCP. Two experimental stages are involved in the study. The effect of using WCP on the fresh and hardened properties of SCC is investigated in the second stage, then the optimum waste ceramic powder percentage is selected. ASTM C-618 standard is used to evaluate the pozzolanic property of the WCP. Based on the standard, the WCP is classified as Class-N pozzolanic material. The WCP is distinguished by the size and chemical composition of its fine particles, which are primarily SiO₂ and Al₂O₃. 15% WCP fulfills flow-ability, filling-ability, passing-ability and segregation resistance of the fresh properties of the SCC. 20% replacement of WCP doesn’t satisfy the flow-ability of the SCC which is 540mm by slump flow test.10% of WCP incorporation gives satisfactory hardened properties of SCC. The 10% replacement is the optimum percentage replacement which satisfies both the fresh and hardened properties of the SCC. Therefore, the outcome of the investigation indicates WCP is a very strong candidate to be used as cement replacing material to manufacture SCC effectively with satisfied fresh and hardened concrete properties.

Keywords: elf-compacting concrete (SCC), waste ceramic powder (WCP), pozzolanic property, segregation

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1185 Development of an Auxetic Tissue Implant

Authors: Sukhwinder K. Bhullar, M. B. G. Jun

Abstract:

The developments in biomedical industry have demanded the development of biocompatible, high performance materials to meet higher engineering specifications. The general requirements of such materials are to provide a combination of high stiffness and strength with significant weight savings, resistance to corrosion, chemical resistance, low maintenance, and reduced costs. Auxetic materials which come under the category of smart materials offer huge potential through measured enhancements in mechanical properties. Unique deformation mechanism, providing cushioning on indentation, automatically adjustable with its strength and thickness in response to forces and having memory returns to its neutral state on dissipation of stresses make them good candidate in biomedical industry. As simple extension and compression of tissues is of fundamental importance in biomechanics, therefore, to study the elastic behaviour of auxetic soft tissues implant is targeted in this paper. Therefore development and characterization of auxetic soft tissue implant is studied in this paper. This represents a real life configuration where soft tissue such as meniscus in knee replacement, ligaments and tendons often are taken as transversely isotropic. Further, as composition of alternating polydisperse blocks of soft and stiff segments combined with excellent biocompatibility make polyurethanes one of the most promising synthetic biomaterials. Hence selecting auxetic polyurathylene foam functional characterization is performed and compared with conventional polyurathylene foam.

Keywords: auxetic materials, deformation mechanism, enhanced mechanical properties, soft tissues

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1184 Continuity Through Best Practice. A Case Series of Complex Wounds Manage by Dedicated Orthopedic Nursing Team

Authors: Siti Rahayu, Khairulniza Mohd Puat, Kesavan R., Mohammad Harris A., Jalila, Kunalan G., Fazir Mohamad

Abstract:

The greatest challenge has been in establishing and maintaining the dedicated nursing team. Continuity is served when nurses are assigned exclusively for managing wound, where they can continue to build expertise and skills. In addition, there is a growing incidence of chronic wounds and recognition of the complexity involved in caring for these patients. We would like to share 4 cases with different techniques of wound management. 1st case, 39 years old gentleman with underlying rheumatoid arthritis with chronic periprosthetic joint infection of right total knee replacement presented with persistent drainage over right knee. Patient was consulted for two stage revision total knee replacement. However, patient only agreed for debridement and retention of implant. After debridement, large medial and lateral wound was treated with Instillation Negative Pressure Wound Therapy Dressings. After several cycle, the wound size reduced, and conventional dressing was applied. 2nd case, 58 years old gentleman with underlying diabetes presented with right foot necrotizing fasciitis with gangrene of 5th toe. He underwent extensive debridement of foot with rays’ amputation of 5th toe. Post debridement patient was started on Instillation Negative Pressure Wound Therapy Dressings. After several cycle of VAC, the wound bed was prepared, and he underwent split skin graft over right foot. 3 rd case, 60 years old gentleman with underlying diabetes mellitus presented with right foot necrotizing soft tissue infection. He underwent rays’ amputation and extensive wound debridement. Upon stabilization of general condition, patient was discharge with regular wound dressing by same nurse and doctor during each visit to clinic follow up. After 6 months of follow up, the wound healed well. 4th case, 38-year-old gentleman had alleged motor vehicle accident and sustained closed fracture right tibial plateau. Open reduction and proximal tibial locking plate were done. At 2 weeks post-surgery, the patient presented with warm, erythematous leg and pus discharge from the surgical site. Empirical antibiotic was started, and wound debridement was done. Intraoperatively, 50cc pus was evacuated, unhealthy muscle and tissue debrided. No loosening of the implant. Patient underwent multiple wound debridement. At 2 weeks post debridement wound healed well, but the proximal aspect was unable to close immediately. This left the proximal part of the implant to be exposed. Patient was then put on VAC dressing for 3 weeks until healthy granulation tissue closes the implant. Meanwhile, antibiotic was change according to culture and sensitivity. At 6 weeks post the first debridement, the wound was completely close, and patient was discharge home well. At 3 months post operatively, patient wound and fracture healed uneventfully and able to ambulate independently. Complex wounds are too serious to be dealt with. Team managing complex wound need continuous support through the provision of educational tools to support their professional development, engagement with local and international expert, as well as highquality products that increase efficiencies in services

Keywords: VAC (Vacuum Assisted Closure), empirical- initial antibiotics, NPWT- negative pressure wound therapy, NF- necrotizing fasciitis, gangrene- blackish discoloration due to poor blood supply

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1183 Analysis of Potential Associations of Single Nucleotide Polymorphisms in Patients with Schizophrenia Spectrum Disorders

Authors: Tatiana Butkova, Nikolai Kibrik, Kristina Malsagova, Alexander Izotov, Alexander Stepanov, Anna Kaysheva

Abstract:

Relevance. The genetic risk of developing schizophrenia is determined by two factors: single nucleotide polymorphisms and gene copy number variations. The search for serological markers for early diagnosis of schizophrenia is driven by the fact that the first five years of the disease are accompanied by significant biological, psychological, and social changes. It is during this period that pathological processes are most amenable to correction. The aim of this study was to analyze single nucleotide polymorphisms (SNPs) that are hypothesized to potentially influence the onset and development of the endogenous process. Materials and Methods It was analyzed 73 single nucleotide polymorphism variants. The study included 48 patients undergoing inpatient treatment at "Psychiatric Clinical Hospital No. 1" in Moscow, comprising 23 females and 25 males. Inclusion criteria: - Patients aged 18 and above. - Diagnosis according to ICD-10: F20.0, F20.2, F20.8, F21.8, F25.1, F25.2. - Voluntary informed consent from patients. Exclusion criteria included: - The presence of concurrent somatic or neurological pathology, neuroinfections, epilepsy, organic central nervous system damage of any etiology, and regular use of medication. - Substance abuse and alcohol dependence. - Women who were pregnant or breastfeeding. Clinical and psychopathological assessment was complemented by psychometric evaluation using the PANSS scale at the beginning and end of treatment. The duration of observation during therapy was 4-6 weeks. Total DNA extraction was performed using QIAamp DNA. Blood samples were processed on Illumina HiScan and genotyped for 652,297 markers on the Infinium Global Chips Screening Array-24v2.0 using the IMPUTE2 program with parameters Ne=20,000 and k=90. Additional filtration was performed based on INFO>0.5 and genotype probability>0.5. Quality control of the obtained DNA was conducted using agarose gel electrophoresis, with each tested sample having a volume of 100 ”L. Results. It was observed that several SNPs exhibited gender dependence. We identified groups of single nucleotide polymorphisms with a membership of 80% or more in either the female or male gender. These SNPs included rs2661319, rs2842030, rs4606, rs11868035, rs518147, rs5993883, and rs6269.Another noteworthy finding was the limited combination of SNPs sufficient to manifest clinical symptoms leading to hospitalization. Among all 48 patients, each of whom was analyzed for deviations in 73 SNPs, it was discovered that the combination of involved SNPs in the manifestation of pronounced clinical symptoms of schizophrenia was 19±3 out of 73 possible. In study, the frequency of occurrence of single nucleotide polymorphisms also varied. The most frequently observed SNPs were rs4849127 (in 90% of cases), rs1150226 (86%), rs1414334 (75%), rs10170310 (73%), rs2857657, and rs4436578 (71%). Conclusion. Thus, the results of this study provide additional evidence that these genes may be associated with the development of schizophrenia spectrum disorders. However, it's impossible cannot rule out the hypothesis that these polymorphisms may be in linkage disequilibrium with other functionally significant polymorphisms that may actually be involved in schizophrenia spectrum disorders. It has been shown that missense SNPs by themselves are likely not causative of the disease but are in strong linkage disequilibrium with non-functional SNPs that may indeed contribute to disease predisposition.

Keywords: gene polymorphisms, genotyping, single nucleotide polymorphisms, schizophrenia.

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1182 Important role of HLA-B*58:01 Allele and Distribution Among Healthy Thais: Avoid Severe Cutaneous Adverse Reactions

Authors: Jaomai Tungsiripat, Patompong Satapornpong

Abstract:

Allopurinol have been used to treat diseases that relating with the reduction of uric acid and be a treatment preventing the severity of, including gout, chronic kidney disease, chronic heart failure, and diabetes mellitus (type 2). However, allopurinol metabolites can cause a severe cutaneous adverse reaction (SCARs) consist of Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) and Stevens-Johnson Syndrome(SJS)/Toxic Epidermal Necrolysis (TEN). Previous studies, we found only HLA-B*58:01 allele has a strongly association with allopurinol-induced SCARs in many populations: Han Chinese [P value = 4.7 x 10−24], European [P value <10−6], and Thai [P value <0.001].However, there was no update the frequency of HLA-B alleles and pharmacogenetics markers distribution in healthy Thais and support for screening before the initiation of treatment. The aim of this study was to investigate the prevalence of HLA-B*58:01 allele associated with allopurinol-induced SCARs in healthy Thai population. A retrospective study of 260 individual healthy subjects who living in Thailand. HLA-B were genotyped using sequence-specific oligonucleotides (PCR-SSOs).In this study, we identified the prevalence of HLA-B alleles consist ofHLA-B*46:01 (12.69%), HLA-B*15:02 (8.85%), HLA-B*13:01 (6.35%), HLA-B*40:01 (6.35%), HLA-B*38:02 (5.00%), HLA-B*51:01 (5.00%), HLA-B*58:01 (4.81%), HLA-B*44:03 (4.62%), HLA-B*18:01 (3.85%) and HLA-B*15:25 (3.08%). Therefore, the distribution of HLA-B*58:01 will support the clinical implementation and screening usage of allopurinol in Thai population.

Keywords: allopurinol, HLA-B*58: 01, Thai population, SCARs

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1181 Mutation of Galp Improved Fermentation of Mixed Sugars to Succinate Using Engineered Escherichia coli As1600a

Authors: Apichai Sawisit, Sirima Suvarnakuta Jantama, Sunthorn Kanchanatawee, Lonnie O. Ingram, Kaemwich Jantama

Abstract:

Escherichia coli KJ122 was engineered to produce succinate from glucose using the wild type GalP for glucose uptake instead of the native phosphotransferase system (ptsI mutation). This strain ferments 10% (w/v) xylose poorly. Mutants were selected by serial transfers in AM1 mineral salts medium with 10% (w/v) xylose. Evolved mutants exhibited a similar improvement, co-fermentation of an equal mixture of xylose and glucose. One of these, AS1600a, produced 84.26±1.37 g/L succinate, equivalent to that produced by the parent (KJ122) strain from 10% glucose (85.46±1.78 g/L). AS1600a was sequenced and found to contain a mutation in galactose permease (GalP, G236D). Expressing the galP* mutation gene in KJ122ΔgalP resembled the xylose utilization phenotype of the mutant AS1600a. The strain AS1600a and KJ122ΔgalP (pLOI5746; galP*) also co-fermented a mixture of glucose, xylose, arabinose, and galactose in sugarcane bagasse hydrolysate for succinate production.

Keywords: xylose, furfural, succinat, sugarcane bagasse, E. coli

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1180 Thermoluminescent Response of Nanocrystalline BaSO4:Eu to 85 MeV Carbon Beams

Authors: Shaila Bahl, S. P. Lochab, Pratik Kumar

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Nanotechnology and nanomaterials have attracted researchers from different fields, especially from the field of luminescence. Recent studies on various luminescent nanomaterials have shown their relevance in dosimetry of ionizing radiations for the measurements of high doses using the Thermoluminescence (TL) technique, where the conventional microcrystalline phosphors saturate. Ion beams have been used for diagnostic and therapeutic purposes due to their favorable profile of dose deposition at the end of the range known as the Bragg peak. While dealing with human beings, doses from these beams need to be measured with great precision and accuracy. Henceforth detailed investigations of suitable thermoluminescent dosimeters (TLD) for dose verification in ion beam irradiation are required. This paper investigates the TL response of nanocrystalline BaSO4 doped with Eu to 85 MeV carbon beam. The synthesis was done using Co-precipitation technique by mixing Barium chloride and ammonium sulphate solutions. To investigate the crystallinity and particle size, analytical techniques such as X-ray diffraction (XRD) and Transmission electron microscopy (TEM) were used which revealed the average particle sizes to 45 nm with orthorhombic structure. Samples in pellet form were irradiated by 85 MeV carbon beam in the fluence range of 1X1010-5X1013. TL glow curves of the irradiated samples show two prominent glow peaks at around 460 K and 495 K. The TL response is linear up to 1X1013 fluence after which saturation was observed. The wider linear TL response of nanocrystalline BaSO4: Eu and low fading make it a superior candidate as a dosimeter to be used for detecting the doses of carbon beam.

Keywords: radiation, dosimetry, carbon ions, thermoluminescence

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1179 Genome-Wide Insights into Whole Gut Microbiota of Rainbow Trout, Oncorhynchus Mykiss Associated with Changes in Dietary Composition and Temperature Regimens

Authors: John N. Idenyi, Hadimundeen Abdallah, Abigeal D. Adeyemi, Jonathan C. Eya

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Gut microbiomes play a significant role in the growth, metabolism, and health of fish. However, we know very little about the interactive effects of variations in dietary composition and temperature on rainbow trout gut microbiota. Exactly 288 rainbow trout weighing 45.6g ± 0.05 (average ± SD) were fed four isocaloric, isolipidic, and isonitrogenous diets comprising 40% crude protein and 20% crude lipid and formulated as 100 % animal-based protein (AP) and a blend of 50 fish oil (FO)/50 camelina oil (CO), 100 % AP and100 % CO, 100 % plant-based protein (PP) and a blend of 50FO/50CO or 100 % PP and 100 % CO in 14 or 18°C for 150 days. Gut content was analyzed using 16S rRNA gene and shotgun sequencing. The most abundant phyla identified regardless of diet were Tenericutes, Firmicutes, Proteobacteria, Spirochaetes, Bacteroidetes, and Actinobacteria, while Aeromonadaceae and Enterobacteriaceae were dominant families in 18°C. Moreover, gut microbes were dominated by genes relating to an amino acid, carbohydrate, fat, and energy metabolisms and influenced by temperature. The shared functional profiles for all the diets suggest that plant protein sources in combination with CO could be as good as the fish meal with 50/50 FO & CO in rainbow trout farming.

Keywords: aquafeed, aquaculture, microbiome, rainbow trout

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1178 Charge Transport in Biological Molecules

Authors: E. L. Albuquerque, U. L. Fulco, G. S. Ourique

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The focus of this work is on the numerical investigation of the charge transport properties of the de novo-designed alpha3 polypeptide, as well as in its variants, all of them probed by gene engineering. The theoretical framework makes use of a tight-binding model Hamiltonian, together with ab-initio calculations within quantum chemistry simulation. The alpha3 polypeptide is a 21-residue with three repeats of the seven-residue amino acid sequence Leu-Glu-Thr-Leu-Ala-Lys-Ala, forming an alpha–helical bundle structure. Its variants are obtained by Ala→Gln substitution at the e (5th) and g (7th) position, respectively, of the alpha3 polypeptide amino acid sequence. Using transmission electron microscopy and atomic force microscopy, it was observed that the alpha3 polypeptide and one of its variant do have the ability to form fibrous assemblies, while the other does not. Our main aim is to investigate whether or not the biased alpha3 polypeptide and its variants can be also identified by quantum charge transport measurements through current-voltage (IxV) curves as a pattern to characterize their fibrous assemblies. It was observed that each peptide has a characteristic current pattern, which may be distinguished by charge transport measurements, suggesting that it might be a useful tool for the development of biosensors.

Keywords: charge transport properties, electronic transmittance, current-voltage characteristics, biological sensor

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1177 Starchy Wastewater as Raw Material for Biohydrogen Production by Dark Fermentation: A Review

Authors: Tami A. Ulhiza, Noor I. M. Puad, Azlin S. Azmi, Mohd. I. A. Malek

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High amount of chemical oxygen demand (COD) in starchy waste can be harmful to the environment. In common practice, starch processing wastewater is discharged to the river without proper treatment. However, starchy waste still contains complex sugars and organic acids. By the right pretreatment method, the complex sugar can be hydrolyzed into more readily digestible sugars which can be utilized to be converted into more valuable products. At the same time, the global demand of energy is inevitable. The continuous usage of fossil fuel as the main source of energy can lead to energy scarcity. Hydrogen is a renewable form of energy which can be an alternative energy in the future. Moreover, hydrogen is clean and carries the highest energy compared to other fuels. Biohydrogen produced from waste has significant advantages over chemical methods. One of the major problems in biohydrogen production is the raw material cost. The carbohydrate-rich starchy wastes such as tapioca, maize, wheat, potato, and sago wastes is a promising candidate to be used as a substrate in producing biohydrogen. The utilization of those wastes for biohydrogen production can provide cheap energy generation with simultaneous waste treatment. Therefore this paper aims to review variety source of starchy wastes that has been widely used to synthesize biohydrogen. The scope includes the source of waste, the performance in yielding hydrogen, the pretreatment method and the type of culture that is suitable for starchy waste.

Keywords: biohydrogen, dark fermentation, renewable energy, starchy waste

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1176 LncRNA-miRNA-mRNA Networks Associated with BCR-ABL T315I Mutation in Chronic Myeloid Leukemia

Authors: Adenike Adesanya, Nonthaphat Wong, Xiang-Yun Lan, Shea Ping Yip, Chien-Ling Huang

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Background: The most challenging mutation of the oncokinase BCR-ABL protein T315I, which is commonly known as the “gatekeeper” mutation and is notorious for its strong resistance to almost all tyrosine kinase inhibitors (TKIs), especially imatinib. Therefore, this study aims to identify T315I-dependent downstream microRNA (miRNA) pathways associated with drug resistance in chronic myeloid leukemia (CML) for prognostic and therapeutic purposes. Methods: T315I-carrying K562 cell clones (K562-T315I) were generated by the CRISPR-Cas9 system. Imatinib-treated K562-T315I cells were subjected to small RNA library preparation and next-generation sequencing. Putative lncRNA-miRNA-mRNA networks were analyzed with (i) DESeq2 to extract differentially expressed miRNAs, using Padj value of 0.05 as cut-off, (ii) STarMir to obtain potential miRNA response element (MRE) binding sites of selected miRNAs on lncRNA H19, (iii) miRDB, miRTarbase, and TargetScan to predict mRNA targets of selected miRNAs, (iv) IntaRNA to obtain putative interactions between H19 and the predicted mRNAs, (v) Cytoscape to visualize putative networks, and (vi) several pathway analysis platforms – Enrichr, PANTHER and ShinyGO for pathway enrichment analysis. Moreover, mitochondria isolation and transcript quantification were adopted to determine the new mechanism involved in T315I-mediated resistance of CML treatment. Results: Verification of the CRISPR-mediated mutagenesis with digital droplet PCR detected the mutation abundance of ≄80%. Further validation showed the viability of ≄90% by cell viability assay, and intense phosphorylated CRKL protein band being detected with no observable change for BCR-ABL and c-ABL protein expressions by Western blot. As reported by several investigations into hematological malignancies, we determined a 7-fold increase of H19 expression in K562-T315I cells. After imatinib treatment, a 9-fold increment was observed. DESeq2 revealed 171 miRNAs were differentially expressed K562-T315I, 112 out of these miRNAs were identified to have MRE binding regions on H19, and 26 out of the 112 miRNAs were significantly downregulated. Adopting the seed-sequence analysis of these identified miRNAs, we obtained 167 mRNAs. 6 hub miRNAs (hsa-let-7b-5p, hsa-let-7e-5p, hsa-miR-125a-5p, hsa-miR-129-5p, and hsa-miR-372-3p) and 25 predicted genes were identified after constructing hub miRNA-target gene network. These targets demonstrated putative interactions with H19 lncRNA and were mostly enriched in pathways related to cell proliferation, senescence, gene silencing, and pluripotency of stem cells. Further experimental findings have also shown the up-regulation of mitochondrial transcript and lncRNA MALAT1 contributing to the lncRNA-miRNA-mRNA networks induced by BCR-ABL T315I mutation. Conclusions: Our results have indicated that lncRNA-miRNA regulators play a crucial role not only in leukemogenesis but also in drug resistance, considering the significant dysregulation and interactions in the K562-T315I cell model generated by CRISPR-Cas9. In silico analysis has further shown that lncRNAs H19 and MALAT1 bear several complementary miRNA sites. This implies that they could serve as a sponge, hence sequestering the activity of the target miRNAs.

Keywords: chronic myeloid leukemia, imatinib resistance, lncRNA-miRNA-mRNA, T315I mutation

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1175 Antioxidant Potential and Inhibition of Key Enzymes Linked to Alzheimer's Diseases and Diabetes Mellitus by Monoterpene-Rich Essential Oil from Sideritis Galatica Bornm. Endemic to Turkey

Authors: Gokhan Zengin, Cengiz Sarikurkcu, Abdurrahman Aktumsek, Ramazan Ceylan

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The present study was designated to characterize the essential oil from S. galatica (SGEOs) and evaluate its antioxidant and enzyme inhibitory activities. Antioxidant capacity were tested different methods including free radical scavenging (DPPH, ABTS and NO), reducing power (FRAP and CUPRAC), metal chelating and phosphomolybdenum. Inhibitory activities were analyzed on acetylcholiesterase, butrylcholinesterase, α-amylase and α-glucosidase. SGEOs were chemically analyzed and identified by gas chromatography (GC) and gas chromatography/mass spectrophotometry (GC/MS). 23 components, representing 98.1% of SGEOs were identified. Monoterpene hydrocarbons (74.1%), especially α- (23.0%) and ÎČ-pinene (32.2%), were the main constituents in SGEOs. The main sesquiterpene hydrocarbons were ÎČ-caryophyllene (16.9%), Germacrene-D (1.2%) and Caryophyllene oxide (1.2%), respectively. Generally, SGEOs has shown moderate free radical, reducing power, metal chelating and enzyme inhibitory activities. These activities related to chemical profile in SGEOs. Our findings supported that the possible utility of SGEOs is a source of natural agents for food, cosmetics or pharmaceutical industries.

Keywords: sideritis galatica, antioxidant, monoterpenes, cholinesterase, anti-diabetic

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1174 Microarrays: Wide Clinical Utilities and Advances in Healthcare

Authors: Salma M. Wakil

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Advances in the field of genetics overwhelmed detecting large number of inherited disorders at the molecular level and directed to the development of innovative technologies. These innovations have led to gene sequencing, prenatal mutation detection, pre-implantation genetic diagnosis; population based carrier screening and genome wide analyses using microarrays. Microarrays are widely used in establishing clinical and diagnostic setup for genetic anomalies at a massive level, with the advent of cytoscan molecular karyotyping as a clinical utility card for detecting chromosomal aberrations with high coverage across the entire human genome. Unlike a regular karyotype that relies on the microscopic inspection of chromosomes, molecular karyotyping with cytoscan constructs virtual chromosomes based on the copy number analysis of DNA which improves its resolution by 100-fold. We have been investigating a large number of patients with Developmental Delay and Intellectual disability with this platform for establishing micro syndrome deletions and have detected number of novel CNV’s in the Arabian population with the clinical relevance.

Keywords: microarrays, molecular karyotyping, developmental delay, genetics

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