Search results for: AODV routing protocol

Authors: Pampita Chakraborty, Sukumar Mukherjee

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This study was done to determine the prevalence of nosocomial infections in the ICU and to identify the common microorganisms causing these infections and their antimicrobial sensitivity pattern. Nosocomial infection or hospital-acquired infection is a localized or a systemic condition resulting from an adverse reaction to the presence of infectious agents. Nosocomial infections are not present or incubating when the patient is admitted to hospital or other health care facility. They are caused by pathogens that easily spread through the body. Many hospitalized patients have compromised immune systems, so they are less able to fight off infections. These infections occur worldwide, both in the developed and developing the world. They are a significant burden to patients and public health. They are a major cause of death and increased morbidity in hospitalized patients, which is a matter of serious concern today. This study was done during the period of one year (2012-2013) in the ICU of the tertiary care hospital in eastern India. Prevalence of nosocomial infection was determined; site of infection and the pattern of microorganisms were identified along with the assessment of antibiotic susceptibility profile. Patients who developed an infection after 48 hours of admission to the ICU were included in the study. A total of 324 ICU patients were analyzed, of these 79 patients were found to have developed a nosocomial infection (24.3% prevalence). Urinary tract infection was found to be more predominant followed by respiratory tract infection and soft tissue infection. The most frequently isolated microorganism was E. coli, Pseudomonas aeruginosa, Klebsiella pneumoniae followed by other organisms respectively. Antibiotic susceptibility test of these isolates was done against commonly used antibiotics. Patients admitted to the ICU are especially susceptible to nosocomial infections. Despite adequate antimicrobial treatment, nosocomial ICU infections can significantly affect ICU stay and can cause an increase in patient’s morbidity and mortality. Adherence to infection protocol, proper monitoring and the judicious use of antibiotics are important in preventing such infections on a regular basis.

Keywords: antibiotic susceptibility, intensive care unit, nosocomial infection, nosocomial pathogen

Procedia PDF Downloads 295

Authors: Denis Duagi, Ben Carter, Maria Farrelly, Stephen Lisk, June S. L. Brown

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Background: Adolescence represents a distinctive phase of development, and variables linked to this developmental period could affect the efficiency of prevention and treatment for depression and anxiety, as well as the long-term prognosis. The objectives of this study were to investigate the long-term effectiveness of psychosocial interventions for adolescents on depression and anxiety symptoms and to assess the influence of different intervention parameters on the long-term effects. Methods: Searches were carried out on the 11ᵗʰ of August 2022 using five databases (Cochrane Library, Embase, Medline, PsychInfo, Web of Science), as well as trial registers. Randomized controlled trials of psychosocial interventions targeting specifically adolescents were included if they assessed outcomes at 1-year post-intervention or more. The Cochrane risk of bias-2 quality assessment tool was used. The primary outcome was depression, and studies were pooled using a standardised mean difference, with an associated 95% confidence interval, p-value, and I². The study protocol was pre-registered (CRD42022348668). Findings: A total of 57 reports (n= 46,678 participants) were included in the review. Psychosocial interventions led to small reductions in depressive symptoms, with a standardised mean difference (SMD) at 1-year of -0.08 (95%CI -0.20, -0.03, p=0.002, I²=72%), 18-months SMD=-0.12, 95% CI -0.22, -0.01, p=0.03, I²=63%) and 2-years SMD=-0.12 (95% CI -0.20, -0.03, p=0.01, I²=68%). Sub-group analyses indicated that targeted interventions produced stronger effects, particularly when delivered by trained mental health professionals (K=18, SMD=-0.24, 95% CI -0.38, -0.10, p=0.001, I²=60%). No effects were detected for anxiety at any assessment. Conclusion: Psychosocial interventions specifically targeting adolescents were shown to have small but positive effects on depression symptoms but not anxiety symptoms, which were sustained for up to 2 years. These findings highlight the potential population-level preventive effects if such psychosocial interventions become widely implemented in accessible settings such as schools.

Keywords: psychosocial, adolescent, interventions, depression, anxiety, meta-analysis, randomized controlled trial

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Authors: Kairat Uteulin, Azhar Iskakova, Serik Mukhambetzhanov, Bayan Yesbolayeva, Gabit Bari, Aslan Zheksenbai, Kabyl Zhambakin, Chingis Dzhabykbayev, Vladimir Piven, Izbasar Rakhimbaiev

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To explore the potential for in vitro rapid regeneration of Russian dandelion (Taraxacum kok-saghyz Rodin), different concentrations of 6-Benzylaminopurine (BAP), 2,4-Dichlorophenoxyacetic acid (2.4-D) and BAP combined with Indole-3-acetic acid (IAA) were evaluated for their effects on the induction of somatic embryos from leaf, seed stem and root explants. Different explants were cultured on MS medium supplemented with various concentrations (0, 0.5, 1, 1.5, 2, 2.5 and 3 mg/l) of each kind of hormone. Callus induction percentage, fresh weight, color and texture of the callus were assessed after 14 and 28 days of culture. The optimum medium for the proliferation of embryogenic calli from leaf and root explants was MS supplemented with 2.5 mg/L BAP and 0.5 mg/L 2.4-D. Concentrations of 2.5 mg/L BAP and 1.5 mg/L IAA also had a remarkable effect on root and stem explants. The best concentration to produce callus from stem explants was 0.5 mg/L BAP and 1 mg/L IAA. Results of mean comparison showed that BAP and 2.4-D were more effective on different explants than BAP and IAA. Results of the double staining method proved that somatic embryogenesis occurred in the most concentrations of BAP and 2.4-D. Under microscopic observations, the different developmental stages of the embryos (globular, heart, torpedo and cotyledonary) were revealed together in callus cells, indicating that the most tested hormone combinations were effective for somatic embryogenesis formation in this species. Seed explants formed torpedo and cotyledonary stages faster than leaf and root explants in the most combinations. Most calli from seed explants were cream colored and friable, while calli were compact and light green from leaf and root explants. Some combinations gave direct regeneration and (3 mg/L BAP and 2 mg/L IAA) in seed explants and (0.5 mg/L BAP and 2.5 mg/L IAA) in leaf explants had the highest number of shoots with average of 21 and 27 shoots per callus. The developed protocol established the production of different callus types from seed, leaf, and root explants and plant regeneration through somatic embryogenesis.

Keywords: taraxacum kok-saghyz Rodin, callus, somatic embryogenesis

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Authors: M. Hirani, M. Devine, O. Obisesan, C. Bryant

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Introduction: The use of four or more implants to support a fixed prosthesis in the edentulous mandible is well documented, with high levels of clinical outcomes recorded. Despite this, the use of three implant-supported fixed prostheses offers the potential to deliver a more cost-effective method of oral rehabilitation in the lower arch, an important consideration given that edentulism is most prevalent in low-income subpopulations. The purpose of this study aimed to evaluate the implant and prosthetic survival rate, changes in marginal bone level, and patient satisfaction associated with a three-implant-supported fixed prosthesis for rehabilitation of the edentulous mandible over a follow-up period of at least one year. Methods: A comprehensive literature search was performed to evaluate studies that met the selection criteria. The information extracted included the study design and population, participant demographics, observation period, loading protocol, and the number of implants placed together with the required outcome measures. Mean values and standard deviations (SD) were calculated using SPSS® (IBM Corporation, New York, USA), and the level of statistical significance across all comparative studies described was set at P < 0.05. Results: The eligible studies included a total of 1968 implants that were placed in 652 patients. The subjects ranged in age from 33-89 years, with a mean of 63.2 years. The mean cumulative implant and prosthetic survival rates were 95.5% and 96.2%, respectively, over a mean follow-up period of 3.25 years. The mean marginal bone loss recorded was 1.04 mm, and high patient satisfaction rates were reported across the studies. Conclusion: Current evidence suggests that a three implant-supported fixed prosthesis for the edentulous mandible is a successful treatment strategy presenting high implant and prosthetic survival rates over the short-to-medium term. Further well-designed controlled clinical trials are required to evaluate longer-term outcomes, with supplemental data correlating implant dimensions and prosthetic design.

Keywords: implants, mandible, fixed, prosthesis

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Authors: Despoina Andrioti Bygvraa, Ida-Maja Hassellöv, George Charalambous

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Exhaust gas cleaning systems, also known as scrubbers, are today widely used to allow for the use of High Sulphur Heavy Fuel Oil and still comply with the regulations limiting sulphur content in marine fuels. There are extensive concerns about environmental consequences, especially in the Baltic Sea, from the wide-scale use of scrubbers, as the wash water is acidic (ca pH 3) and contains high concentrations of toxic, carcinogenic, and mutagenic substances. The aim of this feasibility study is to investigate the potential adverse effects on seafarers’ health with the ultimate goal of raising awareness of chemical-related health and safety issues in the shipping environment. The project got funding from the Swedish Foundation. The team will extend previously compiled data on scrubber wash water concentrations of hazardous substances and pH to include the use of strong base in closed-loop scrubbers, and scoping assessment on handling and disposing practices. Based on the findings (a), a systematic review of risk assessment will follow to show the risk of exposures, the establishment of the hazardous levels for human health as well as the respective prevention practices. In addition, the researchers will perform (b) a systematic review to identify facilitators and barriers of the crew on compliance with the safe handling of chemicals. The study will run for 12 months, delivering (a) a risk assessment inventory with risk exposures and (b) a course description of safe handling practices. This feasibility study could provide valuable knowledge on how pollutants found in scrubbers should be considered from a human health perspective to facilitate evidence-based informed decisions in future technology- and policy development to make shipping a safer, healthier, and more attractive workplace.

Keywords: health and safety, seafarers, scrubbers, chemicals, risk exposures

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Authors: C. Catalina Zapata, Z. Claudia Montoya

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Transplant from hematopoietic parents (THP) or medulla (MT) is a procedure used to replace the medulla that does not work as part of a disease or when it is destroyed either by a treatment of high medication doses against cancer or by radiation. The transplant process has three stages, a stage prior to transplant, during and after the transplant. It is held with the help of an interdisciplinary team, including nursing, carrying out mainly educative procedures to warrant the adhesion and the changes in lifestyles needed to whom will undergo this procedure. The aim of the study was to assess the results of an educative procedure by nursing, on adult patients subjected to a transplant from hematopoietic parents at a high complexity institution of Medellin city, Colombia. This study had an observational longitudinal design. According to the rules of protocol, the educative activity must be held on all patients joining the procedure. Four instruments were designed in order to collect all the information. One of them to measure the sociodemographic variables, another one to measure self-care practices, another one to measure transplant knowledge and its cares and the other one to measure the 30-day post-transplant complications. The last three instruments were applied before and after the educative procedure. A univaried analysis was carried out but the bivaried analysis was not carried out since there were not statistically meaningful differences before and after. Within the results, ten patients were evaluated. The average age was 38.2 (13.38 SD – standard deviation), 8/10 were men. Some self-care practices such us having pets and plants and consuming some specific food as well as little use of UV protection are all present in this type of patients and are not modified after the procedure. In measuring the knowledge, something stands out among the answers. It is the fact that some patients do not know what the medulla is, the nature of separating wastes at home and the need to consult about vomit and nausea. The most frequent complications during the first thirty days were: nausea, vomit, fever, and rash. They are considered to be expected within this period. Patients do not exhibit differences in their level of knowledge before and after the educative procedure by nursing. The patients’ self-care practices do not involve all the necessary ones to avoid complications. During the first 30 days, most of the complications are typical of the transplant process from hematopoietic parents.

Keywords: bone marrow transplant, education, family, nursing, patients, Transplantation of hematopoietic progenitors

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Authors: Niharul Alam

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The development of energy efficient, economic and eco-friendly synthetic protocols for metal nanoparticles (NPs) with tailor-made structural properties and biocompatibility is a highly cherished goal for researchers working in the field of nanoscience and nanotechnology. In this context, green chemistry is highly relevant and the 12 principles of Green Chemistry can be explored to develop such synthetic protocols which are practically implementable. One of the most promising green chemical synthetic methods which can serve the purpose is biogenic synthetic protocol, which utilizes non-toxic multifunctional reactants derived from natural, biological sources ranging from unicellular organisms to higher plants that are often characterized as “medicinal plants”. Over the past few years, a plethora of medicinal plants have been explored as the source of this kind of multifunctional green chemical agents. In this presentation, we focus on the syntheses of stable monometallic Au and Ag NPs and also bimetallic Au/Ag alloy NPs with highly efficient catalytic property using aqueous extract of leaves of Indian Curry leaf plat (Murraya koenigii Spreng.; Fam. Rutaceae) as green multifunctional agents which is extensively used in Indian traditional medicine and cuisine. We have also studied the interaction between the synthesized metal NPs and surface-adsorbed fluorescent moieties, quercetin and quercetin glycoside which are its chemical constituents. This helped us to understand the surface property of the metal NPs synthesized by this plant based biogenic route and to predict a plausible mechanistic pathway which may help in fine-tuning green chemical methods for the controlled synthesis of various metal NPs in future. We observed that simple experimental parameters e.g. pH and temperature of the reaction medium, concentration of multifunctional agent and precursor metal ions play important role in the biogenic synthesis of Au NPs with finely tuned structures.

Keywords: green multifunctional agent, metal nanoparticles, biogenic synthesis

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Authors: Muhammad Faheem Khakhi, Jian Yu Wang, Salman Muhammad, Muhammad Faisal Shabir

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Population growth and Chinese two-child policy will boost pharmaceutical market, and it will continue to maintain the growth for a period of time in the future, the traditional pharmacy dispensary has been unable to meet the growing medical needs of the peoples. Under the strong support of the national policy, the automatic transformation of traditional pharmacies is the inclination of the Times, the new type of intelligent pharmacy system will continue to promote the development of the pharmaceutical industry. Under this background, based on PLC control, the paper proposed an intelligent storage and automatic drug delivery system; complete design of the lower computer's control system and the host computer's software system has been present. The system can be applied to dispensing work for Chinese herbal medicinal and Western medicines. Firstly, the essential of intelligent control system for pharmacy is discussed. After the analysis of the requirements, the overall scheme of the system design is presented. Secondly, introduces the software and hardware design of the lower computer's control system, including the selection of PLC and the selection of motion control system, the problem of the human-computer interaction module and the communication between PC and PLC solves, the program design and development of the PLC control system is completed. The design of the upper computer software management system is described in detail. By analyzing of E-R diagram, built the establish data, the communication protocol between systems is customize, C++ Builder is adopted to realize interface module, supply module, main control module, etc. The paper also gives the implementations of the multi-threaded system and communication method. Lastly, each module of the lower computer control system is tested. Then, after building a test environment, the function test of the upper computer software management system is completed. On this basis, the entire control system accepts the overall test.

Keywords: automatic pharmacy, PLC, control system, management system, communication

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Authors: Mark Linden, Rachel Leonard, Trisha Forbes, Michael Brown, Lynne Marsh, Stuart Todd, Nathan Hughes, Maria Truesdale

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Background: Current interventions which aim to improve the mental health of family carers are often face to face, which can create barriers to full participation. Online interventions can offer flexibility in delivery compared to face to face approaches. The primary objective of this study is to determine the feasibility of delivering the Carers-ID online intervention, while the secondary outcome is to improve the mental health of family carers of people with intellectual disabilities. Methods: Family carers (n = 120) will be randomised to receive the intervention (n=60) or assigned to a wait-list control (n=60) group. The intervention (www.Carers-ID.com) consists of fourteen modules which cover topics including promoting resilience, providing peer support, reducing anxiety, managing stress, accessing local supports, managing family conflict and information for siblings who are carers. Primary outcomes for this study include acceptability and feasibility of the outcome measures, recruitment, participation and retention rates and effect sizes. Secondary outcomes will be completed at three time points (baseline, following intervention completion and three months after completion). Secondary outcomes include, depression, anxiety, stress, well-being , resilience and social connectedness. Participants (n=12) who have taken part in the intervention arm of the research will be invited to participate in semi-structured interviews as part of the process evaluation. Discussion: To determine whether a full-scale randomised controlled effectiveness trial is warranted, feasibility testing of the intervention and trial procedures is a necessary first step. The Carers-ID intervention provides an accessible resource for family carers to support their mental health and well-being.

Keywords: intellectual disability, family carer, feasibility trial, online intervention

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Authors: Mei Teng Woo, Keith Davids, Jarmo Liukkonen, Jia Yi Chow, Timo Jaakkola

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Wearable garments such as tapes, compression garments, and braces could improve proprioception and reduced postural sway. The aim of this study was to examine the effects of wearable garments on postural regulation in a sample of community-dwelling elderly individuals, aged 65 years. It was hypothesized that wearable garments such as socks would provide stimulation to lower leg mechanoreceptors, and help participants achieve better postural regulation. Participants (N=63) performed a 30-s Romberg balance test protocol under four conditions (barefoot; wearing commercial socks; wearing clinical compression socks; wearing non-clinical compression socks), in a counterbalanced order, with four levels of performance difficulty: (1) standing on a stable surface with open eyes (SO); (2) a stable surface with closed eyes (SC); (3) a foam surface with open eyes (FO); and (4) a foam surface with closed eyes (FC). Centre of pressure (CoP) measurements included postural sway area (C90 area), trace length (TL) and sway velocity. Thirty-five participants (55.6%) showed positive effects of wearing the socks (responded group). In the responded group, it was revealed that socks showed significant differences in SO, SC and FO conditions for the two CoP measurements - TL and sway velocity (p < 0.05). In contrast, in the non-responded group, barefoot condition significantly decreased the TL and velocity in the SO condition. From the positive effects observed in the responded group, it is possible that wearable garments provide sensory cues that could interact with a biological cueing system to enhance performance in the postural regulation system. This study suggests that individuals respond to the socks treatments differently and future research should be undertaken to examine the factors that benefited the responded group of participants.

Keywords: community-dwelling, elderly adults, postural regulation, wearable garments

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Authors: V. Thomas, O. Delaune, W. Hennig, S. Hoover

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Measurement of radioactive isotopes of atmospheric xenon is used to detect, locate and identify any confined nuclear tests as part of the Comprehensive Nuclear Test-Ban Treaty (CTBT). In this context, the Alternative Energies and French Atomic Energy Commission (CEA) has developed a fixed device to continuously measure the concentration of these fission products, the SPALAX process. During its atmospheric transport, the radioactive xenon will undergo a significant dilution between the source point and the measurement station. Regarding the distance between fixed stations located all over the globe, the typical volume activities measured are near 1 mBq m⁻³. To avoid the constraints induced by atmospheric dilution, the development of a mobile detection system is in progress; this system will allow on-site measurements in order to confirm or infringe a suspicious measurement detected by a fixed station. Furthermore, this system will use beta/gamma coincidence measurement technique in order to drastically reduce environmental background (which masks such activities). The detector prototype consists of a gas cell surrounded by two large silicon wafers, coupled with two square NaI(Tl) detectors. The gas cell has a sample volume of 30 cm³ and the silicon wafers are 500 µm thick with an active surface area of 3600 mm². In order to minimize leakage current, each wafer has been segmented into four independent silicon pixels. This cell is sandwiched between two low background NaI(Tl) detectors (70x70x40 mm³ crystal). The expected Minimal Detectable Concentration (MDC) for each radio-xenon is in the order of 1-10 mBq m⁻³. Three 4-channels digital acquisition modules (Pixie-NET) are used to process all the signals. Time synchronization is ensured by a dedicated PTP-network, using the IEEE 1588 Precision Time Protocol. We would like to present this system from its simulation to the laboratory tests.

Keywords: beta/gamma coincidence technique, low level measurement, radioxenon, silicon pixels

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Authors: Elaine Wong

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This research protocol aims to explore and justify the need for nutrition and physical activity intervention to improve health outcomes among SME (Small Medium Enterprise) employees. It was found that the worksite is an ideal and convenient setting for employees to take charge of their health thru active participation in health programmes since they spent a great deal of time at their workplace. This study will examine the impact of both general or/and targeted health interventions in both SME and non-SME companies utilizing the Workplace Health Promotion (WHP) grant over a 12 months period and assessed the improvement in chronic health disease outcomes in Singapore. Random sampling of both non-SME and SME companies will be conducted to undergo health intervention and statistical packages such as Statistical Package for Social Science (SPSS) 25 will be used to examine the impact of both general and targeted interventions on employees who participate and those who do not participate in the intervention and their effects on blood glucose (BG), blood lipid, blood pressure (BP), body mass index (BMI), and body fat percentage. Using focus groups and interviews, the data results will be transcribed to investigate enablers and barriers to workplace health intervention revealed by employees and WHP coordinators that could explain the variation in the health screening results across the organisations. Dietary habits and physical activity levels of the employees participating and not participating in the intervention will be collected before and after intervention to assess any changes in their lifestyle practices. It makes economic sense to study the impact of these interventions on health screening outcomes across various organizations that are existing grant recipients to justify the sustainability of these programmes by the local government. Healthcare policy makers and employers can then tailor appropriate and relevant programmes to manage these escalating chronic health disease conditions which is integral to the competitiveness and productivity of the nation’s workforce.

Keywords: chronic diseases, health screening, nutrition and fitness intervention , workplace health

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Authors: Xiaoqing Liu, Kurt Friese, Karsten Rinke

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Lacustrine sediment archives rich paleoenvironmental information in lake and surrounding environment. Additionally, modern sediment is used as an effective medium for the monitoring of lake. Organic carbon in sediment is a heterogeneous mixture with varying turnover times and qualities which result from the different biogeochemical processes in the deposition of organic material. Therefore, the isolation of different carbon pools is important for the research of lacustrine condition in the lake. However, the numeric available fractionation procedures can hardly yield homogeneous carbon pools on terms of stability and age. In this work, a multi-step fractionation protocol that treated sediment with hot water, HCl, H2O2 and Na2S2O8 in sequence was adopted, the treated sediment from each step were analyzed for the isotopic and structural compositions with Isotope Ratio Mass Spectrometer coupled with element analyzer (IRMS-EA) and Solid-state 13C Nuclear Magnetic Resonance (NMR), respectively. The sequential extractions with hot-water, HCl, and H2O2 yielded a more homogeneous and C3 plant-originating OC fraction, which was characterized with an atomic C/N ratio shift from 12.0 to 20.8, and 13C and 15N isotopic signatures were 0.9‰ and 1.9‰ more depleted than the original bulk sediment, respectively. Additionally, the H2O2- resistant residue was dominated with stable components, such as the lignins, waxes, cutans, tannins, steroids and aliphatic proteins and complex carbohydrates. 6M HCl in the acid hydrolysis step was much more effective than 1M HCl to isolate a sedimentary OC fraction with higher degree of homogeneity. Owing to the extremely high removal rate of organic matter, the step of a Na2S2O8 oxidation is only suggested if the isolation of the most refractory OC pool is mandatory. We conclude that this multi-step chemical fractionation procedure is effective to isolate more homogeneous OC pools in terms of stability and functional structure, and it can be used as a promising method for OC pools fractionation of sediment or soil in future lake research.

Keywords: 13C-CPMAS-NMR, 13C signature, lake sediment, OC fractionation

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Authors: Shawna Staud, Mary Kaye Scaramucci

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Objective: Rubber cup polishing has been a traditional method of preventative therapy in dental hygiene treatment. Newer methods such as air polishing have changed the way dental hygiene care is provided, yet this technique has not been embraced by students in the program nor by practitioners in the workforce. Students entering the workforce tend to follow office protocol and are limited in confidence to introduce technologies learned in the curriculum. This project was designed to help students gain confidence in newer skills and encourage private practice settings to adopt newer technologies for patient care. Our program recently introduced air polishing earlier in the program before the rubber cup technique to determine if students would embrace the technology to become leading-edge professionals when they enter the marketplace. Methods: The class of 2022 was taught the traditional method of polishing in the first-year curriculum and air polishing in the second-year curriculum. The class of 2023 will be taught the air polishing method in the first-year curriculum and the traditional method of polishing in the second-year curriculum. Pre- and post-graduation survey data will be collected from both cohorts. Descriptive statistics and pre and post-paired t-tests with alpha set at .05 to compare pre and post-survey results will be used to assess data. Results: This study is currently in progress, with a completion date of October 2023. The class of 2022 completed the pre-graduation survey in the spring of 2022. The post-gradation survey will be sent out in October 2022. The class of 2023 cohort will be surveyed in the spring of 2023 and October 2023. Conclusion: Our hypothesis is students who are taught air polishing first will be more inclined to adopt that skill in private practice, thereby embracing newer technology and improving oral health care.

Keywords: luggage handling system at world’s largest pilgrimage center

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Authors: Sitaram Dahal

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Sustainable Development, a universal need for the present generation and the future generation, is an accepted way to assure intra and inter-generational equity. International movements like Rio Earth Summit 1992, Stockholm Conference 1972, Kyoto Protocol, Sustainable Development Goals (SDGs) proclaim the need of sustainable globe. The socio- economic disparity prevailing in the society shows that the indigenous peoples are living life far below poverty line. These indigenous people, aboriginal social groups sharing common cultural values and with a unique identity, are away from development being merely focused on the growth. Though studies suggest that most of the indigenous practices are often environment-friendly, alert about the plunging trend of the practices. This study explores the trend of intergenerational transmission of indigenous profession of pottery making of Kumal community (Meghauli Village Development Committee of Chitwan district) and factors affecting the trend. The SD indicators - contribution of IP to well-being of pottery makers had been query in the study. The study reveals that the pottery making profession can stand sustainable in terms of environment and socio-economic capital compared to modern technologies. However, the number of practitioners has been decreasing and youths hardly show interest to continue their indigenous profession. The new generations are not in a stage of accepting pottery in complete profession, that challenges the social and cultural sustainability of the profession. Indigenous profession demand people investments over modern technology and innovations. The relative investment of human labour is dramatically high with the indigenous profession. In addition, the fashion and innovations of market rule challenge the sustainability of the pottery making profession. The practice is limited to small cluster as a show piece at present. The study illustrates the market driven unsustainability of indigenous profession of Kumal community.

Keywords: professional unsustainability, pottery making, Kumal Community, Indigenous Professoin

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Authors: Öznur Saribaş, Si̇bel Kahraman Çeti̇ntaş

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It is aimed to compare target volume and critical organ doses by using CyberKnife (CK) in accelerated partial breast irradiation (APBI) in patients with early stage breast cancer. Three different virtual plans were made for Iris, fixed and multi-leaf collimator (MLC) for 5 patients who received radiotherapy in the CyberKnife system. CyberKnife virtual plans were created, with 6 Gy per day totaling 30 Gy. Dosimetric parameters for the three collimators were analyzed according to the restrictions in the NSABP-39/RTOG 0413 protocol. The plans ensured critical organs were protected and GTV received 95 % of the prescribed dose. The prescribed dose was defined by the isodose curve of a minimum of 80. Homogeneity index (HI), conformity index (CI), treatment time (min), monitor unit (MU) and doses taken by critical organs were compared. As a result of the comparison of the plans, a significant difference was found for the duration of treatment, MU. However, no significant difference was found for HI, CI. V30 and V15 values of the ipsi-lateral breast were found in the lowest MLC. There was no significant difference between Dmax values for lung and heart. However, the mean MU and duration of treatment were found in the lowest MLC. As a result, the target volume received the desired dose in each collimator. The contralateral breast and contralateral lung doses were the lowest in the Iris. Fixed collimator was found to be more suitable for cardiac doses. But these values did not make a significant difference. The use of fixed collimators may cause difficulties in clinical applications due to the long treatment time. The choice of collimator in breast SBRT applications with CyberKnife may vary depending on tumor size, proximity to critical organs and tumor localization.

Keywords: APBI, CyberKnife, early stage breast cancer, radiotherapy.

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Authors: Simmi Chopra

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In the last few years, there has been a surge of Autoimmune diseases that have become more like an epidemic all over the world. The reasons vary from stress, insufficient sleep, smoking, genetics, environmental pollution, adulterated foods, and a diet full of “the deadly white,” which is white sugar and white flour. Most of the people diagnosed with these diseases are given steroids, opioids, supplements, or elimination diets to manage their lives, but most of them continue suffering to varying degrees. On the other hand, Ayurveda can help manage autoimmune problems effectively. Ayurveda is a 5000 years old holistic medical system from India that has an individualistic approach where health problems are looked at from the lens of balancing body and mind and by targeting the root cause of the problem. A combination of diet and lifestyle according to Ayurvedic principles, Ayurvedic herbal formulations and Ayurvedic therapies can help in the management of autoimmune and other chronic diseases. Panchkarma, which is an intense six weeks detox method, helps balance our body and mind, and has been very effective in managing autoimmune problems. The paper will introduce the basic concepts of Ayurveda and describe the terminologies- doshas, agni and ama. The paper will discuss the importance of diet and lifestyle according to the individual’s imbalance in the three functional parameters - doshas, which govern every aspect of our body and mind, our cells and tissues. The significance of agni, which can be correlated to digestive strength and ama, which can be correlated to toxins that are formed in our body leading to health problems, will be outlined. The Ayurvedic pathophysiology of autoimmune diseases will be discussed with emphasis on Rheumatoid arthritis, Multiple sclerosis and Psoriasis. Ayurvedic management will be discussed for these autoimmune conditions. As Ayurveda is an individualistic system, one protocol will not work for everyone. Therefore, case studies with Ayurvedic protocols for the above autoimmune disease will be presented. Conclusion: Ayurveda can help in managing as well as arresting the progression of autoimmune problems. Ayurveda is an ancient medical system, is much more needed today than ever. It is a tried and tested holistic system which has been practiced for the past many generations in India.

Keywords: ayurveda, autoimmune, diseases, nutrition

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Authors: Rashmi Tomar, A. Srinivasan, Nayan K. Mohanty, Arun K. Jain

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Phthalates have been used as additives in industrial products since the 1930s, and are universally considered to be ubiquitous environmental contaminants. The general population is exposed to phthalates through consumer products, as well as diet and medical treatments. Animal studies showing the existence of an association between some phthalates and testicular toxicity have generated public and scientific concern about the potential adverse effects of environmental changes on male reproductive health. Unprecedented declines in fertility rates and semen quality have been reported during the last half of the 20th century in developed countries and increasing interest exists on the potential relationship between exposure to environmental contaminants, including phthalates, and human male reproductive health Studies. Phthalates may be associated with altered endocrine function and adverse effects on male reproductive development and function, but human studies are limited. The aim of the present study was detection of phthalate compounds, estimation of their metabolites in infertile & fertile male. Blood and urine samples were collected from 150 infertile patients & 75 fertile volunteers recruited through Department of Urology, Safdarjung Hospital, New Delhi. Blood have been collected in separate glass tubes from the antecubital vein of the patients, serum have been separate and estimate the phthalate level in serum samples by Gas Chromatography / Mass Spectrometry using NIOSH / OSHA detailed protocol. Urine of Infertile & Fertile Subjects was collected & extracted using solid phase extraction method, analysis by HPLC. In conclusion, to the best of our knowledge the present study based on human is first to show the presence of phthalate in human serum samples and their metabolites in urine samples. Significant differences were observed between several phthalates in infertile and fertile healthy individuals.

Keywords: Gas Chromatography, HPLC, male infertility, phthalates, serum, toxicity, urine

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Authors: Ryan Adams

Abstract:

Introduction: Major trauma is the leading cause of death in 15-45 year olds and a significant human, social and economic costs. Resuscitation is a stalwart of trauma management, especially in the pre-hospital environment and packed red blood cells (pRBC) are being increasingly used with the advent of permissive hypotension. The evidence in this area is lacking and further research is required to determine its efficacy. Aim: The aim of this retrospective, matched cohort study was to determine if major trauma patients, who received pre-hospital pRBC, have a difference in their initial emergency department cardiovascular status; when compared with injury-profile matched controls. Methods: The trauma databases of the Royal Brisbane and Women's Hospital, Royal Children's Hospital (Herston) and Queensland Ambulance Service were accessed and major trauma patient (ISS>12) data, who received pre-hospital pRBC, from January 2011 to August 2014 was collected. Patients were then matched against control patients that had not received pRBC, by their injury profile. The primary outcomes was cardiovascular status; defined as shock index and Revised Trauma Score. Results: Data for 25 patients who received pre-hospital pRBC was accessed and the injury profiles matched against suitable controls. On admittance to the emergency department, a statistically significant difference was seen in the blood group (Blood = 1.42 and Control = 0.97, p-value = 0.0449). However, the same was not seen with the RTS (Blood = 4.15 and Control 5.56, p-value = 0.291). Discussion: A worsening shock index and revised trauma score was associated with pre-hospital administration of pRBC. However, due to the small sample size, limited matching protocol and associated confounding factors it is difficult to draw any solid conclusions. Further studies, with larger patient numbers, are required to enable adequate conclusions to be drawn on the efficacy of pre-hospital packed red blood cell transfusion.

Keywords: pre-hospital, packed red blood cells, severe trauma, emergency medicine

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Authors: Rashima Mahajan, Dipali Bansal, Shweta Singh

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Real time non-invasive Brain Computer Interfaces have a significant progressive role in restoring or maintaining a quality life for medically challenged people. This manuscript provides a comprehensive review of emerging research in the field of cognitive/affective computing in context of human neural responses. The perspectives of different emotion assessment modalities like face expressions, speech, text, gestures, and human physiological responses have also been discussed. Focus has been paid to explore the ability of EEG (Electroencephalogram) signals to portray thoughts, feelings, and unspoken words. An automated workflow-based protocol to design an EEG-based real time Brain Computer Interface system for analysis and classification of human emotions elicited by external audio/visual stimuli has been proposed. The front end hardware includes a cost effective and portable Emotive EEG Neuroheadset unit, a personal computer and a set of external stimulators. Primary signal analysis and processing of real time acquired EEG shall be performed using MATLAB based advanced brain mapping toolbox EEGLab/BCILab. This shall be followed by the development of MATLAB based self-defined algorithm to capture and characterize temporal and spectral variations in EEG under emotional stimulations. The extracted hybrid feature set shall be used to classify emotional states using artificial intelligence tools like Artificial Neural Network. The final system would result in an inexpensive, portable and more intuitive Brain Computer Interface in real time scenario to control prosthetic devices by translating different brain states into operative control signals.

Keywords: brain computer interface, electroencephalogram, EEGLab, BCILab, emotive, emotions, interval features, spectral features, artificial neural network, control applications

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Authors: Misbah Nizamani, Saira Malik

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Introduction: Bariatric surgery is the most effective treatment for patients suffering from morbid obesity. Laparoscopic sleeve gastrectomy (LSG) accounts for over 50% of total bariatric procedures. The aim of our meta-analysis is to investigate the effectiveness and safety of Enhanced Recovery After Surgery (ERAS) protocols for patients undergoing laparoscopic sleeve gastrectomy. Method: To gather data, we searched PubMed, Google Scholar, ScienceDirect, and Cochrane Central. Eligible studies were randomized controlled trials and cohort studies involving adult patients (≥18 years) undergoing bariatric surgeries, i.e., Laparoscopic sleeve gastrectomy. Outcome measures included LOS, postoperative narcotic usage, postoperative pain score, postoperative nausea and vomiting, postoperative complications and mortality, emergency department visits and readmission rates. RevMan version 5.4 was used to analyze outcomes. Results: Three RCTs and three cohorts with 1522 patients were included in this study. ERAS group and control group were compared for eight outcomes. LOS was reduced significantly in the intervention group (p=0.00001), readmission rates had borderline differences (p=0.35) and higher postoperative complications in the control group, but the result was non-significant (p=0.68), whereas postoperative pain score was significantly reduced (p=0.005). Total MME requirements became significant after performing sensitivity analysis (p= 0.0004). Postoperative mortality could not be analyzed on account of invalid data showing 0% mortality in two cohort studies. Conclusion: This systemic review indicated the effectiveness of the application of ERAS protocols in LSG in reducing the length of stay, post-operative pain and total MME requirements postoperatively, indicating the feasibility and assurance of its application.

Keywords: eras protocol, sleeve gastrectomy, bariatric surgery, enhanced recovery after surgery

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Authors: C. Mayuren, C. K. Paul Wang, K. Purushotham, C. Dinesh Kumar

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Diabetes Mellitus (DM) is one of the most common non-communicable diseases globally. Although significant advances have led to better understanding of the condition and the development of effective therapies and preventive strategies, the pathway to cure remains elusive and DM prevails as a serious medical challenge in the 21st century. Oxidative stress has been suggested to contribute to the progression and pathophysiological conditions of diabetes. Madecassoside (MA) a major pentacyclic triterpenoid, has been demonstrated to possess various biological activities. However, no attempt has been made to study the antioxidant activity in diabetic rats. Therefore, the present study is aimed to evaluate the antioxidant effect of MA on streptozotocin-nicotinamide induced type-2 diabetes in Sprague-Dawley rats. The study protocol was approved by the institutional ethical committee prior to the conduct of research. Adult male Sprague-Dawley rats weighing 250-300 g were used in the study. The animals were rendered diabetic with a single intraperitoneal dose of streptozotocin (65 mg/kg) and nicotinamide (110 mg/kg). The diabetic animals after a stabilisation period of 14 days received various treatments (Madecassoside 50 mg/kg; Glimepiride 2.5 mg/kg) suspended in 0.5% carboxymethyl cellulose orally, for a period of 28 days. The animals fasted overnight after the last treatment were sacrificed and the pancreas, liver and kidneys were isolated. The weighted quantity of the samples of various treatments were homogenised in ice-cold condition and were subjected to lipid peroxidation, catalase and superoxide dismutase assay. The data’s obtained were subjected to statistical analysis. Diabetic rats showed significant increase in lipid peroxidation and decrease in enzymatic antioxidant levels. All the treated groups had significantly higher SOD, CAT and reduced LPO activity in the pancreas, liver and kidney. Results suggest madecassoside to have potential antioxidant effect against the diabetic model. However further investigations are necessary to study the mechanism at the cellular level.

Keywords: antioxidant, diabetes, madecassoside, nicotinamide, streptozotocin

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Authors: Jeounghee Kim

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Objective: To describe the incidence of complication, according to the stage of Traumatic Spinal Cord Injury (TSCI) which was treated at Asan Medical Center (AMC), Korea. Hereafter, it should be developed in nursing management protocol of traumatic SCI. Methods. Retrospectively reviewed hospital records about the patients who were admitted AMC Patients with traumatic spinal cord injury until January 2005 and December 2016 were analyzed (n=97). AMC is a single institution of 2,700 beds where patients with trauma and severe trauma can be treated. Patients who were admitted to the emergency room due to spinal cord injury and who underwent intensive care unit, general ward, and rehabilitation ward. To identify long-term complications, we excluded patients who were operated on to other hospitals after surgery. Complications such as respiratory(pneumonia, atelectasis, pulmonary embolism, and others), cardiovascular (hypotension), urinary (autonomic dysreflexia, urinary tract infection (UTI), neurogenic bladder, and others), and skin systems (pressure ulcers) from the time of admission were examined through medical records and images. Results: SCI was graded according to ASIA scale. The initial grade was checked at admission. (grade A 55(56.7%), grade B 14(14.4)%, grade C 11(11.3%), grade D 15(15.5%), and grade E 2(2.1%). The grade was rechecked when the patient was discharged after treatment. (grade A 43(44.3%), grade B 15(15.5%), grade C 12(12.4%), grade D 21(21.6%), and grade E 6(6.2%). The most common complication after SCI was UTI 24cases (mean 36.5day), sore 24cases (40.5day), and Pneumonia which was 23 cases after 10days averagely. The other complications after SCI were neuropathic pain 19 cases, surgical site infection 4 cases. 53.6% of patient who had SCI were educated about intermittent catheterization at discharge from hospital. The mean hospital stay of all SCI patients was 61days. Conclusion: The Complications after traumatic SCI were developed at various stages from acute phase to chronic phase. Nurses need to understand fully the time-course of complication in traumatic SCI to provide evidence-based practice.

Keywords: spinal cord injury, complication, nursing, rehabilitation

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Authors: Shalini Saini, Sharmila Ahuja

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Anaesthesia for caesarean section poses challenges unique to the obstetric patient due to changes in the airway and respiratory system. The choice of anaesthesia for caesarean section depends on various factors however general anaesthesia (GA) is necessary for certain situations. Supraglottic airway devices are an emerging method to secure airway, especially in difficult situations. Of these devices, proseal –LMA (PLMA) is designed to provide better protection of the airway. The use of PLMA has been reported successfully as a rescue device in difficult intubation situations and in patients undergoing elective caesarean section without any complications. The study was prospective and randomised and was designed to compare PLMA in patients undergoing elective lower segment caesarean section (LSCS) with the endotracheal tube (ETT). Patients undergoing LSCS under GA belonging to ASA grade 1 and 2 were included. Patients with the history of fewer than 6 hrs of fasting, known/predicted difficult airway, obesity, gastroesophageal reflux disease, hypertensive disorder were excluded. A standard anaesthesia protocol was followed. All patients received aspiration prophylaxis. The airway was secured with either PLMA or ETT. Parameters noted were- ease of insertion, adequacy of ventilation, hemodynamic changes at insertion and removal of device, incidence of regurgitation and aspiration. Data was analysed by unpaired t- test, Chi-square /Fisher’s test. The findings of our study indicated that PLMA was easy to insert (20.67±6.835 sec) with comparable insertion time to TT (18.33 ± 4.971, p 0.136) and adequate ventilation was achieved with very minimal hemodynamic changes seen with PLMA as compared to ETT at insertion and removal of devices (p 0.01). There was no incidence of regurgitation with the use of PLMA. The incidence of a postoperative sore throat was minimal (6.7%) with PLMA (p<0.05). PLMA appears to be a safe alternative to ETT for selected obstetric patients undergoing elective LSCS. Further study with a larger group of patients is required to establish the safety of PLMA in obstetric patients.

Keywords: caesarean section, general anaesthesia, proseal LMA, endotracheal tube

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Authors: Gargi Prasad, Ashiho A. Mao, Deepu Vijayan, S. Mandal

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The main objective of the present study was to optimize and develop an efficient protocol for in vitro propagation of a medicinally important orchid Cephalantheropsis obcordata (Lindl.) Ormerod along with genetic stability analysis of regenerated plants. This plant has been traditionally used in Chinese folk medicine and the decoction of whole plant is known to possess anticancer activity. Nodal segments used as explants were inoculated on Murashige and Skoog (MS) medium supplemented with various concentrations of isopentenyl adenine (2iP). The rooted plants were successfully acclimatized in the greenhouse with 100% survival rate. Inter-simple sequence repeats (ISSR) markers were used to assess the genetic fidelity of in vitro raised plants and the mother plant. It was revealed that monomorphic bands showing the absence of polymorphism in all in vitro raised plantlets analyzed, confirming the genetic uniformity among the regenerants. Phytochemical analysis was done to compare the antioxidant activities and HPLC fingerprinting assay of 80% aqueous ethanol extract of the leaves and stem of in vitro and in vivo grown C. obcordata. The extracts of the plants were examined for their antioxidant activities by using free radical 1, 1-diphenyl-2-picryl hydrazyl (DPPH) scavenging method, 2,2’-azino-bis (3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) radical scavenging ability, reducing power capacity, estimation of total phenolic content, flavonoid content and flavonol content. A simplified method for the detection of ascorbic acid, phenolic acids and flavonoids content was also developed by using reversed phase high-performance liquid chromatography (HPLC). This is the first report on the micropropagation, genetic integrity study and quantitative phytochemical analysis of in vitro regenerated plants of C. obcordata.

Keywords: Cephalantheropsis obcordata, genetic fidelity, ISSR markers, HPLC

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Authors: R. Bužgová, R. Kozáková, M. Škutová, M. Bar, P. Ressner, P. Bártová

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Introduction: Currently, there has been an increasing concern about the provision of palliative care in non-oncological patients in both professional literature and clinical practice. However, there is not much scientific information on how to provide neurological and palliative care together. The main objective of the project is to create and to verify a concept of neuro-palliative and rehabilitative care for patients with selected neurological diseases in an advanced stage of the disease and also to evaluate bio-psychosocial and spiritual needs of these patients and their caregivers related to the quality of life using created standardized tools. Methodology: Triangulation of research methods (qualitative and quantitative) will be used. A concept of care and assessment tools will be developed by analyzing interviews and focus groups. Qualitative data will be analyzed using grounded theory. The concept of care will be tested in the context of the intervention study. Using quantitative analysis, we will assess the effect of an intervention provided on the saturation of needs, quality of life, and quality of care. A research sample will be made up of the patients with selected neurological diseases (Parkinson´s syndrome, motor neuron disease, multiple sclerosis, Huntington’s disease), together with patients´ family members. Based on the results, educational materials and a certified course for health care professionals will be created. Findings: Based on qualitative data analysis, we will propose the concept of integrated care model combining neurological, rehabilitative and specialist palliative care for patients with selected neurological diseases in different settings of care and services. Patients´ needs related to quality of life will be described by newly created and validated measuring tools before the start of intervention (application of neuro-palliative and palliative approach) and then in the time interval. Conclusion: Based on the results, educational materials and a certified course for doctors and health care professionals will be created.

Keywords: multidisciplinary approach, neuropalliative care, research, quality of life

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Authors: Karolina Siejka, Monika Piekarska, Monika Zbroja, Weronika Cyranka, Maryla Kuczynska, Magdalena Grzegorczyk, Malgorzata Nowakowska, Agnieszka Brodzisz, Magdalena Maria Wozniak

Abstract:

Crohn’s disease is one of chronic inflammatory bowel diseases. It is increasing in prevalence worldwide, especially with young people. The disease usually occurs in the second to the fourth decade of life. Traditionally is diagnosed by clinical indicates, endoscopic, and histological findings. Magnetic Resonance Enterography (MRE) can demonstrate mural and extramural inflammatory signs and complications, which make it a valuable diagnostic modality. The study included 76 adults and 36 children diagnosed with Crohn’s disease. Each patient underwent MRE with intravenous administration of a contrast agent. All the studies were performed using Siemens Aera 1.5T scanner according to a local study protocol. Whenever applicable, MR Enterography findings were verified with endoscopy. Forty adults and all 36 children had an active phase of Crohn’s disease; five adults had a chronic phase of the disease; one adult had both chronic and active inflammatory features. Thirty adults have no sings of pathology. In both adult and pediatric groups the most commonly observed manifestation of active disease was thickened edematous ileum wall (26 adults and 36 children). Adults had Bauhin’s valve edema in 58% cases (n=23) and mesenteric changes in 34% cases (n=9). To compare, 32 children had Bauhin’s valve edema (89%) and, in 23 cases, was found inflammatory infiltration of the peri-intestinal fat (64%). The involvement of the large intestine was more common among children (100%). Complications of Crohn’s disease were found commonly in adults (40% of adults, 22% of children). There were observed 18 fistulas (14 adults, four children) and six abscesses (2 adults, four children). MRE is a reliable method in the evaluation of Crohn’s disease activity, especially of its complications. The lack of radiations makes MRE well-tolerated modality, which can be often repeated, particularly in young patients. The disease had different medical sings depending on age – children often had a more active inflammatory process, but there were more complications in the adult group.

Keywords: Crohn's disease, diagnostics, inflammatory bowel disease, magnetic resonance enterography, MRE

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Authors: Ravi Kant, Banshi D. Gupta

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The unbridled application of insecticides to enhance agricultural yield has become a matter of grave concern to both the environment and the human health and, thus pose a potential threat to sustainable development. Fenitrothion is an extensively used organophosphate insecticide whose residues are reported to be extremely toxic for birds, humans and aquatic life. A sensitive, swift and accurate detection protocol for fenitrothion is, thus, highly demanded. In this work, we report an SPR based fiber optic sensor for the detection of fenitrothion, where a nanocomposite arrangement of Ta2O5 and reduced graphene oxide (rGO) (Ta₂O₅: rGO) decorated on silver coated unclad core region of an optical fiber forms the sensing channel. A nanocomposite arrangement synergistically integrates the properties of involved components and consequently furnishes a conducive framework for sensing applications. The modification of the dielectric function of the sensing layer on exposure to fenitrothion solutions of diverse concentration forms the sensing mechanism. This modification is reflected in terms of the shift in resonance wavelength. Experimental variables such as the concentration of rGO in the nanocomposite configuration, dip time of silver coated fiber optic probe for deposition of sensing layer and influence of pH on the performance of the sensor have been optimized to extract the best performance of the sensor. SPR studies on the optimized sensing probe reveal the high sensitivity, wide operating range and good reproducibility of the fabricated sensor, which unveil the promising utility of Ta₂O₅: rGO nanocomposite framework for developing an efficient detection methodology for fenitrothion. FOSPR approach in cooperation with nanomaterials projects the present work as a beneficial approach for fenitrothion detection by imparting numerous useful advantages such as sensitivity, selectivity, compactness and cost-effectiveness.

Keywords: surface plasmon resonance, optical fiber, sensor, fenitrothion

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Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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Authors: Ahmed Elhussein, Hossam El-Zomor, Adel Alieldin, Mahmoud A. Afifi, Abdullah Elhusseiny, Hala Taha, Amal Refaat, Soha Ahmed, Mohamed S. Zagloul

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Background: A majority of children with retinoblastoma (60%) have a disease in one eye only (unilateral disease). This is a retrospective study to evaluate two different treatment modalities in those patients for saving their lives and vision. Methods: Four hundred and four patients were diagnosed with unilateral intraocular retinoblastoma at Children’s Cancer, Hospital Egypt (CCHE) through the period of July/2007 until December/2017. Management strategies included primary enucleation versus ocular salvage treatment. Results: Patients presented with mean age 24.5 months with range (1.2-154.3 months). According to the international retinoblastoma classification, Group D (n=172, 42%) was the most common, followed by group E (n=142, 35%), group C (n=63, 16%), and group B (n=27, 7%). All patients were alive at the end of the study except four patients who died, with 5-years overall survival 98.3% [CI, (96.5-100%)]. Patients presented with advanced disease and poor visual prognosis (n=241, 59.6%) underwent primary enucleation with 6 cycles adjuvant chemotherapy if they had high-risk features in the enucleated eye; only four patients out of 241 ended-up either with extraocular metastasis (n=3) or death (n=1). While systemic chemotherapy and focal therapy were the primary treatment for those who presented with favorable disease status and good visual prognosis (n=163, 40.4%); seventy-seven patients of them (47%) ended up with a pre-defined event (enucleation, EBRT, off protocol chemotherapy or 2ry malignancy). Ocular survival for patients received primary chemotherapy + focal therapy was [50.9% (CI, 43.5-59.6%)] at 3 years and [46.9% (CI,39.3-56%)] at 5 years. Comparison between upfront enucleation and primary chemotherapy for occurrence of extraocular metastasis revealed that there was no statistical difference between them except in group D (p value). While for occurrence of death, no statistical difference in all classification groups. Conclusion: In retinoblastoma, primary chemotherapy is a reasonable option and has a good probability for ocular salvage without increasing the risk of metastasis in comparison to upfront enucleation except in group D.

Keywords: CCHE, chemotherapy, enucleation, retinoblastoma

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