Search results for: newborn hearing screening
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1643

Search results for: newborn hearing screening

923 Determination of Gross Alpha and Gross Beta Activity in Water Samples by iSolo Alpha/Beta Counting System

Authors: Thiwanka Weerakkody, Lakmali Handagiripathira, Poshitha Dabare, Thisari Guruge

Abstract:

The determination of gross alpha and beta activity in water is important in a wide array of environmental studies and these parameters are considered in international legislations on the quality of water. This technique is commonly applied as screening method in radioecology, environmental monitoring, industrial applications, etc. Measuring of Gross Alpha and Beta emitters by using iSolo alpha beta counting system is an adequate nuclear technique to assess radioactivity levels in natural and waste water samples due to its simplicity and low cost compared with the other methods. Twelve water samples (Six samples of commercially available bottled drinking water and six samples of industrial waste water) were measured by standard method EPA 900.0 consisting of the gas-less, firm wear based, single sample, manual iSolo alpha beta counter (Model: SOLO300G) with solid state silicon PIPS detector. Am-241 and Sr90/ Y90 calibration standards were used to calibrate the detector. The minimum detectable activities are 2.32mBq/L and 406mBq/L, for alpha and beta activity, respectively. Each of the 2L water samples was evaporated (at low heat) to a small volume and transferred into 50mm stainless steel counting planchet evenly (for homogenization) and heated by IR lamp and the constant weighted residue was obtained. Then the samples were counted for gross alpha and beta. Sample density on the planchet area was maintained below 5mg/cm. Large quantities of solid wastes sludges and waste water are generated every year due to various industries. This water can be reused for different applications. Therefore implementation of water treatment plants and measuring water quality parameters in industrial waste water discharge is very important before releasing them into the environment. This waste may contain different types of pollutants, including radioactive substances. All these measured waste water samples having gross alpha and beta activities, lower than the maximum tolerance limits for industrial waste water discharge of industrial waste in to inland surface water, that is 10-9µCi/mL and 10-8µCi/mL for gross alpha and beta respectively (National Environmental Act, No. 47 of 1980). This is according to extraordinary gazette of the democratic socialist republic of Sri Lanka in February 2008. The measured water samples were below the recommended radioactivity levels and do not pose any radiological hazard when releasing the environment. Drinking water is an essential requirement of life. All the drinking water samples were below the permissible levels of 0.5Bq/L for gross alpha activity and 1Bq/L for gross beta activity. The values have been proposed by World Health Organization in 2011; therefore the water is acceptable for consumption of humans without any further clarification with respect to their radioactivity. As these screening levels are very low, the individual dose criterion (IDC) would usually not be exceeded (0.1mSv y⁻¹). IDC is a criterion for evaluating health risks from long term exposure to radionuclides in drinking water. Recommended level of 0.1mSv/y expressed a very low level of health risk. This monitoring work will be continued further for environmental protection purposes.

Keywords: drinking water, gross alpha, gross beta, waste water

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922 Assessment of Cellular Metabolites and Impedance for Early Diagnosis of Oral Cancer among Habitual Smokers

Authors: Ripon Sarkar, Kabita Chaterjee, Ananya Barui

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Smoking is one of the leading causes of oral cancer. Cigarette smoke affects various cellular parameters and alters molecular metabolism of cells. Epithelial cells losses their cytoskeleton structure, membrane integrity, cellular polarity that subsequently initiates the process of epithelial cells to mesenchymal transition due to long exposure of cigarette smoking. It changes the normal cellular metabolic activity which induces oxidative stress and enhances the reactive oxygen spices (ROS) formation. Excessive ROS and associated oxidative stress are considered to be a driving force in alteration in cellular phenotypes, polarity distribution and mitochondrial metabolism. Noninvasive assessment of such parameters plays essential role in development of routine screening system for early diagnosis of oral cancer. Electrical cell-substrate impedance sensing (ECIS) is one of such method applied for detection of cellular membrane impedance which can be correlated to cell membrane integrity. Present study intends to explore the alteration in cellular impedance along with the expression of cellular polarity molecules and cytoskeleton distributions in oral epithelial cells of habitual smokers and to correlate the outcome to that of clinically diagnosed oral leukoplakia and oral squamous cell carcinoma patients. Total 80 subjects were categorized into four study groups: nonsmoker (NS), cigarette smoker (CS), oral leukoplakia (OLPK) and oral squamous cell carcinoma (OSCC). Cytoskeleton distribution was analyzed by staining of actin filament and generation of ROS was measured using assay kit using standard protocol. Cell impedance was measured through ECIS method at different frequencies. Expression of E-cadherin and protease-activated receptor (PAR) proteins were observed through immune-fluorescence method. Distribution of actin filament is well organized in NS group however; distribution pattern was grossly varied in CS, OLPK and OSCC. Generation of ROS was low in NS which subsequently increased towards OSCC. Expressions of E-cadherin and change in cellular electrical impedance in different study groups indicated the hallmark of cancer progression from NS to OSCC. Expressions of E-cadherin, PAR protein, and cell impedance were decreased from NS to CS and farther OSCC. Generally, the oral epithelial cells exhibit apico-basal polarity however with cancer progression these cells lose their characteristic polarity distribution. In this study expression of polarity molecule and ECIS observation indicates such altered pattern of polarity among smoker group. Overall the present study monitored the alterations in intracellular ROS generation and cell metabolic function, membrane integrity in oral epithelial cells in cigarette smokers. Present study thus has clinical significance, and it may help in developing a noninvasive technique for early diagnosis of oral cancer amongst susceptible individuals.

Keywords: cigarette smoking, early oral cancer detection, electric cell-substrate impedance sensing, noninvasive screening

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921 Complications and Outcomes of Cochlear Implantation in Children Younger than 12 Months: A Multicenter Study

Authors: Alimohamad Asghari, Ahmad Daneshi, Mohammad Farhadi, Arash Bayat, Mohammad Ajalloueyan, Marjan Mirsalehi, Mohsen Rajati, Seyed Basir Hashemi, Nader Saki, Ali Omidvari

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Evidence suggests that Cochlear Implantation (CI) is a beneficial approach for auditory and speech skills improvement in children with severe to profound hearing loss. However, it remains controversial if implantation in children <12 months is safe and effective compared to older children. The present study aimed to determine whether children's ages affect surgical complications and auditory and speech development. The current multicenter study enrolled 86 children who underwent CI surgery at <12 months of age (group A) and 362 children who underwent implantation between 12 and 24 months of age (group B). The Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores were determined pre-impanation, and "one-year" and "two-year" post-implantation. Four complications (overall rate: 4.65%; three minor) occurred in group A and 12 complications (overall rate: 4.41%; nine minor) occurred in group B. We found no statistically significant difference in the complication rates between the groups (p>0.05). The mean SIR and CAP scores improved over time following CI activation in both groups. However, we did not find significant differences in CAP and SIR scores between the groups across different time points. Cochlear implantation is a safe and efficient procedure in children younger than 12 months, providing substantial auditory and speech benefits comparable to children undergoing implantation at 12 to 24 months of age. Furthermore, surgical complications in younger children are similar to those of children undergoing the CI at an older age.

Keywords: cochlear implant, Infant, complications, outcome

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920 Analysis of Green Wood Preservation Chemicals

Authors: Aitor Barbero-López, Soumaya Chibily, Gerhard Scheepers, Thomas Grahn, Martti Venäläinen, Antti Haapala

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Wood decay is addressed continuously within the wood industry through use and development of wood preservatives. The increasing awareness on the negative effects of many chemicals towards the environment is causing political restrictions in their use and creating more urgent need for research on green alternatives. This paper discusses some of the possible natural extracts for wood preserving applications and compares the analytical methods available for testing their behavior and efficiency against decay fungi. The results indicate that natural extracts have interesting chemical constituents that delay fungal growth but vary in efficiency depending on the chemical concentration and substrate used. Results also suggest that presence and redistribution of preservatives in wood during exposure trials can be assessed by spectral imaging methods although standardized methods are not available. This study concludes that, in addition to the many standard methods available, there is a need to develop new faster methods for screening potential preservative formulation while maintaining the comparability and relevance of results.

Keywords: analytics, methods, preservatives, wood decay

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919 FMR1 Gene Carrier Screening for Premature Ovarian Insufficiency in Females: An Indian Scenario

Authors: Sarita Agarwal, Deepika Delsa Dean

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Like the task of transferring photo images to artistic images, image-to-image translation aims to translate the data to the imitated data which belongs to the target domain. Neural Style Transfer and CycleGAN are two well-known deep learning architectures used for photo image-to-art image transfer. However, studies involving these two models concentrate on one-to-one domain translation, not one-to-multi domains translation. Our study tries to investigate deep learning architectures, which can be controlled to yield multiple artistic style translation only by adding a conditional vector. We have expanded CycleGAN and constructed Conditional CycleGAN for 5 kinds of categories translation. Our study found that the architecture inserting conditional vector into the middle layer of the Generator could output multiple artistic images.

Keywords: genetic counseling, FMR1 gene, fragile x-associated primary ovarian insufficiency, premutation

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918 Community Involvement in Reducing Maternal and Perinatal Mortality in Cross River State, Nigeria: 'The Saving Mother Giving Life' Strategic Approach in Cross River State

Authors: Oluwayemisi Femi-Pius, Kazeem Arogundade, Eberechukwu Eke, Jimmy Eko

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Introduction: Globally, community involvement in improving their own health has been widely adopted as a strategy in Sub-Saharan Africa principally to ensure equitable access to essential health care as well as improve the uptake of maternal and newborn health services especially in poor-resource settings. Method: The Saving Mother Giving Life (SMGL) Initiative implemented by Pathfinder International with funding support from USAID conducted a Health Facility Assessment (HFA) and found out that maternal mortality ratio in Cross River State was 812 per 100,000 live birth and perinatal mortality was 160 per 1000 live birth. To reduce maternal and perinatal mortality, Pathfinder International mobilized, selected and trained community members as community volunteers, traditional birth attendants, and emergency transport service volunteer drivers mainly to address the delay in decision making and reaching the health facility among pregnant women. Results: The results showed that maternal mortality ratio in Cross River State decrease by 25% from 812 per 100,000 live birth at baseline to 206 per 100,000 live birth at June 2018 and perinatal mortality reduced by 35% from 160 per 100,000 at baseline to 58 per 1000 live birth at June 2018. Data also show that ANC visit increased from 7,451 to 11,344; institutional delivery increased from 8,931 at baseline to 10,784 in June 2018. There was also a remarkable uptake of post-partum family planning from 0 at baseline to 233 in June 2018. Conclusion: There is clear evidence that community involvement yields positive maternal outcomes and is pivotal for sustaining most health interventions.

Keywords: maternal mortality, Nigeria, pathfinder international, perinatal mortality, saving mother giving life

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917 Tibial Hemimelia Type VIIa: A Case Report

Authors: M. Medrano, M. D. M. S., L. Younes, M. D.

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Introduction: Incidence of tibial hemimelia is 1:1,000,000. Due to pre-existing case studies and literature, there is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia, but an underlying cause is generally unknown. This presentation aims to discuss a rare, congenital lower limb deficiency observed in a patient in order to identify potential prenatal risk factors and future considerations for the patient’s well-being. Observation: A newborn female child, born full term via spontaneous vaginal delivery after induction of labor to unaffected and non-consanguineous parents. The prenatal course was notable for limited and disjointed prenatal care as well as maternal tobacco and marijuana use, anemia of pregnancy, and inadequate weight gain. Prenatal imaging showed lower extremity deformity with the inability to visualize tibia and bilateral clubfeet in the setting of Intrauterine Growth Restriction (IUGR). The patient presented with right equino varus deformity of the foot and right knee joint deformity. Radiological imaging showed the absence of the right tibia and varus angulation of the right foot with dislocation of the tibiotalar joint. Normal femur with lateral and mild anterior displacement of a wide fibula (Weber Type VIIa). Due to the absence of the patient’s tibia and knee extensor mechanism, the patient was not a candidate for reconstructive surgery and ultimately underwent successful right knee disarticulation. Discussion and Conclusion: By utilizing a retrospective chart review of this case, possible risk factors in prenatal care may be identified and add to existing knowledge on etiology. Hopefully, a cause can be clearly identified in the future and, thus, addressed in the prenatal period. In addition, we can investigate the patient’s well-being and adjustment post-operatively to support outpatient management of an uncommon anomaly.

Keywords: Tibial hemimelia, prenatal care, pediatric orthopedics, congenital deformity

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916 Using of M Health in MCH Service during COVID-19: Application of Diffusion of Innovation Theory

Authors: Mikiyas Yonas Fufa

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- Maternal and child health service was a critical service which may have many risks and many maternal and newborn mortality is there if not managed properly. In middle and low countries like Ethiopia accessibility and quality of MCH service is low. During this COVID-19 Pandemics even the pervious access of MCH will be decreased. So many pregnant mothers are not attending their ANC, Delivery and other services in the hospital because they think they are more vulnerable to COVID-19. This condition may make an increase of maternal and neonatal morbidity and mortality. The innovation is an idea (which is development of a mobile app prepared by Maternity Foundation organization that focuses on midwifery care. The app has detailed videos on danger signs in pregnancy and procedures during labor and delivery). By telling this to clients it is planned to explore the perception, attitude towards this innovation and barriers to accepting it. What is planned to study is to explore the perceptions and barriers towards using of new idea which is innovation of mHealth on the MCH services. It is planned to interview the pregnant mothers who come for ANC at health facility and mothers who are absent from their appointment of services. In this way it is planned to explore how the mothers accept this idea and what barriers make them from accepting this idea. This is a phenomenological qualitative study and application of diffusion of innovation theory on the MCH services. The participant will be selected by using quota sampling methods for the mother who are interviewed at hospitals and snowball/quota sampling methods for the mother who are absent from their appointment/visits. Sample size of the participant depends on the saturation of data/idea. Each participant will be interviewed based the open-ended questionnaires, and the interview will be recorded then transcribed then finally analyzed by the open code 4.03. Beneficiaries: The federal ministry of health prepares them to develop the apk of mhealth. Health professionals in the MCH will have a low overload and accessibility and the quality of care will be increased during COVID-19 Different collaborations will be participated and promote the mother to enjoy the new idea.

Keywords: COVID-19, m health, MCH, diffusion of innovation

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915 2D Fingerprint Performance for PubChem Chemical Database

Authors: Fatimah Zawani Abdullah, Shereena Mohd Arif, Nurul Malim

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The study of molecular similarity search in chemical database is increasingly widespread, especially in the area of drug discovery. Similarity search is an application in the field of Chemoinformatics to measure the similarity between the molecular structure which is known as the query and the structure of chemical compounds in the database. Similarity search is also one of the approaches in virtual screening which involves computational techniques and scoring the probabilities of activity. The main objective of this work is to determine the best fingerprint when compared to the other five fingerprints selected in this study using PubChem chemical dataset. This paper will discuss the similarity searching process conducted using 6 types of descriptors, which are ECFP4, ECFC4, FCFP4, FCFC4, SRECFC4 and SRFCFC4 on 15 activity classes of PubChem dataset using Tanimoto coefficient to calculate the similarity between the query structures and each of the database structure. The results suggest that ECFP4 performs the best to be used with Tanimoto coefficient in the PubChem dataset.

Keywords: 2D fingerprints, Tanimoto, PubChem, similarity searching, chemoinformatics

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914 Analysis to the Characterization of Self-Esteem of Students in Eulogio 'Amang' Rodriguez Institute of Science and Technology: A Foundation of Conceptualizing Substantial Plan of Action

Authors: Eriberto R. Astorga Jr., Herbert D. Vertucio, Evelyn M. Polison

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This study was conducted in order to determine the analysis with regards to the Characterization of Self-Esteem of EARIST Students according to their origin of self-esteem and low self-esteem as well as its causes. The respondents of this study are three thousand three hundred twenty three (3,323) randomly selected students from eight colleges of EARIST such as Arts and Sciences, Education, Public Administration and Criminology, Business Administration, Hospitality Management, Architecture and Fine Arts, Engineering, and Industrial Technology. A survey was conducted by using a validated questionnaire for information gathering about respondents profile and different factors relating to self-esteem of students such as self-origin, familial and social relationship, financial situation and education. Frequency, percentage, ranking and standards deviation, standard t-test and ANOVA were applied to investigate the differences of the answers of the respondents to the origin of their self-esteem and the reasons for low self-esteem. The results revealed that there are no significant differences in the origin of their self-esteem and the reasons of low esteem as to the eight group of respondent’s. Moreover, most causes of low esteem are caused by hearing a comment or experiencing an incident that has a negative impact student mentally and emotionally, poor health, being bullied, lack of support from family, friends, and job loss, experiencing verbal and sexual abuse and are in a violent relationship, feelings of isolation, divorce, dysfunctional family, death and lack of achievement at work and at school, trying to conform to stereotypes and prove our independence from our parents.

Keywords: characterization, plan of action, profile, self-esteem

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913 Promissing Antifungal Chitinase from Marine Strain of Bacillus

Authors: Ben Amar Cheba, Taha Ibrahim Zaghloul, Mohamad Hisham El-Massry, Ahmad Rafik El-Mahdy

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Seventy two bacterial strains with ability to degrade chitin were isolated during a screening program. One of the most potent isolates (strain R2) was identified as Bacillus sp. using conventional methods as well as 16S rRNA technique and submitted in the Gen Bank sequence database as Bacillus sp. R2 with a given accession number DQ 923161. This strain was able to produce high levels of extracellular chitinase. The chitinase of Bacillus sp. R2 hydrolyzed several chitinous substrates preferentially and showed a maximum activity toward the β chitin such as Calmar pen and squid bone chitins with the folds 1.47 and 1.23 respectively. The enzyme also exhibited a substrate binding capacity of more than 70% for squid chitin, shrimp shell colloidal chitin, chitosan and prawn shell chitin. The chitinase showed a moderate antifungal activity against many phytopathogenic fungi such as Aspergillus niger, A. flavus, Penicillium degitatum and Fusarium calmorum.This strain could be a suitable candidate for chitinase production on an industrial scale for using as promising antifungal biopestecide.

Keywords: antifungal activity, Bacillus sp. R2, chitinase, substrate specificity

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912 King versus God: An Introduction to Dhanujatra of Odisha

Authors: Kailash Pattanaik, Giribala Mohanty

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Dhanujatra is a folk performance of ODISHA, India, that transports the participants, on lookers and all alike into a mythical atmosphere for eleven days and nights as well. In this performance the whole town becomes stage. The uniqueness of the festival lies in the fact that all the episodes of this Jatra enacted in different parts of the town making it the largest open air theatre in the world. The paper would emphasize on the uniqueness and the impact of this performance.Different episodes are enacted at different places in the regime. So, Dhanujatra does not confine itself to a fixed static or dead stage, as in case of other Jatra’s; it rather becomes the stage for the world at large. For that, it is said that, Worlds biggest open air theatre held in the tiny town called Bargarh in the western part of Orissa. The play moves sequentially day after day and the audience moves from locale to locale. Here it is analogues to the Ramleela of Ramnagar of Benars. Parallal enactment is a significant feature of this Jatra. From the second day, parallal performances take place in both Bargarh town and Ambapalli epitomising ‘Mathura’ and ‘Gokul’ respectively. Krishna is born in the prison on the second day of the jatra. Basudeb exchanges the child with the Nanda’s newborn baby in Gokul. In this way, parallal performances go on both in Mathura and Gokul. The ordinary persons who act as the mythological characters, or become historical heroes or the legendary Saints or Bhaktas in a Jatra in the evening, lead the lives of ordinary persons during day time. The dramatic personas of those individuals are shed with the end of the Jatra. On the contrary, the persons who act as the main characters of Dhanujatra are exceptions in this regard. They are identified as the characters they enact for the whole period of performance, both in the evenings and during daytime. It is worth mentioning that generally in the folk performances there is an ample scope to touch upon or interpret or comment or satirize the issues of contemporary relevance with the sole purpose to convey some specific message. Dhanujatra is no exception to that.

Keywords: folk performance, Jatra, parallel enactment, open-air stage, Odisha

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911 Effect of Entomopathogenic Fungi on the Food Consumption of Acrididae Species

Authors: S. Kumar, R. Sultana

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This study was conducted to evaluate the effect of Aspergillus species on acridid populations which are major agricultural pests of rice, sugarcane, wheat, maize and fodder crops in Pakistan. Three and replicates i.e. Aspergillus flavus, A. fumigatus and A. niger, excluding the control, were held under laboratory conditions. It was observed that consumption faecal production of acridids was significantly reduced after the pathogenic application of Aspergillus. In the control replicate, the mortality ratio for stage (N4-N6) was maximum on day 2nd i.e. [F10.7 = 18.33, P < 0.05] followed by [F4.20 = 07.85, P < 0.05] and [F3.77 = 06.11, P < 0.05] on 4th and 3rd day, respectively. Similarly, it was a minimum i.e. [F0.48 = 84.65, P < 0.05] on the 1st day. It was also noted that faecal production of Acridid nymphs was not significantly affected when treated with conidial concentration in H2O formulation; however, it was significantly reduced after the contamination with conidial concentration in oil. The high morality of acridids after contamination of Aspergillus supports their use as bio-control agent for reducing pest population. The present study recommends that exploration and screening must be conducted to provide additional pathogens for evaluation as potential biological control against grasshoppers and locusts.

Keywords: acridid, agriculture, formulation, grasshoppers

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910 Synthesis, Characterization and Antibacterial Screening of 3-Hydroxy-2-[3-(2/3/4-Methoxybenzoyl)Thioureido]Butyric Acid

Authors: M. S. M. Yusof, R. Ramli, S. K. C. Soh, N. Ismail, N. Ngah

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This study presents the synthesis of a series of methoxybenzoylthiourea amino acid derivatives. The compounds were obtained from the reactions between 2/3/4-methoxybenzoyl isothiocyanate with threonine. All of the compounds were characterized via mass spectrometry, 1H and 13C NMR spectrometry, UV-Vis spectrophotometer and FT-IR spectroscopy. Mass spectra for all of the compounds showed the presence of molecular ion [M]+ peaks at m/z 312, which are in agreement to the calculated molecular weight. For 1H NMR spectra, the presence of OCH3, C=S-NH and C=O-NH protons were observed within range of δH 3.8-4.0 ppm, 11.1-11.5 ppm and 10.0-11.5 ppm, respectively. 13C NMR spectra in all compounds displayed the presence of OCH3, C=O-NH, C=O-OH and C=S carbon resonances within range of δC 55.0-57.0 ppm, 165.0-168.0 ppm, 170.0-171.0 ppm and 180.0-182.0 ppm, respectively. In UV spectra, two absorption bands have been observed and both were assigned to the n-π* and π-π* transitions. Six vibrational modes of v(N-H), v(O-H), v(C=O-OH), v(C=O-NH), v(C=C) aromatic and v(C=S) appeared in the FT-IR spectra within the range of 3241-3467 cm-1, 2976-3302 cm-1, 1720-1768 cm-1, 1655-1672 cm-1, 1519-1525 cm-1 and 754-763 cm-1, respectively. The antibacterial activity for all of the compounds was screened against Staphylococcus aureus, Staphylococcus epidermidis, Salmonella typhimurium and Escherichia coli. However, no activity was observed.

Keywords: methoxybenzoyl isothiocyanate, amino acid, threonine, antibacterial

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909 Ideation, Plans, and Attempts for Suicide among Adolescents with Disability

Authors: Nyla Anjum, Humaira Bano

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Disability, regardless of its type and nature limits one or two significant life activities. These limitations constitute risk factors for suicide. Rate and intensity of problem upsurges in critical age of adolescence. Researches in the field of mental health over look problem of suicide among persons with disability. Aim of the study was to investigate prevalence and risk factors for suicide among adolescents with disability. The study constitutes purposive sample of 106 elements of both gender with four major categories of disability: hearing impairment, physical impairment, visual impairment and intellectual disabilities. Face to face interview technique was opted for data collection. Other variable are: socio-economic status, social and family support, provision of services for persons with disability, education and employment opportunities. For data analysis independent sample t-test was applied to find out significant differences in gender and One Way Analysis of variance was run to find out differences among four types of disability. Major predictors of suicide were identified with multiple regression analysis. It is concluded that ideation, plans and attempts of suicide among adolescents with disability is a multifaceted and imperative concern in the area of mental health. Urgent research recommendations contains valid measurement of suicide rate and identification of more risk factors for suicide among persons with disability. Study will also guide towards prevention of this pressing problem and will bring message of happy and healthy life not only for persons with disability but also for their families. It will also help to reduce suicide rate in society.

Keywords: suicide, risk factors, adolescent, disability, mental health

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908 Highly-Sensitive Nanopore-Based Sensors for Point-Of-Care Medical Diagnostics

Authors: Leyla Esfandiari

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Rapid, sensitive detection of nucleic acid (NA) molecules of specific sequence is of interest for a range of diverse health-related applications such as screening for genetic diseases, detecting pathogenic microbes in food and water, and identifying biological warfare agents in homeland security. Sequence-specific nucleic acid detection platforms rely on base pairing interaction between two complementary single stranded NAs, which can be detected by the optical, mechanical, or electrochemical readout. However, many of the existing platforms require amplification by polymerase chain reaction (PCR), fluorescent or enzymatic labels, and expensive or bulky instrumentation. In an effort to address these shortcomings, our research is focused on utilizing the cutting edge nanotechnology and microfluidics along with resistive pulse electrical measurements to design and develop a cost-effective, handheld and highly-sensitive nanopore-based sensor for point-of-care medical diagnostics.

Keywords: diagnostics, nanopore, nucleic acids, sensor

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907 High-Fidelity Materials Screening with a Multi-Fidelity Graph Neural Network and Semi-Supervised Learning

Authors: Akeel A. Shah, Tong Zhang

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Computational approaches to learning the properties of materials are commonplace, motivated by the need to screen or design materials for a given application, e.g., semiconductors and energy storage. Experimental approaches can be both time consuming and costly. Unfortunately, computational approaches such as ab-initio electronic structure calculations and classical or ab-initio molecular dynamics are themselves can be too slow for the rapid evaluation of materials, often involving thousands to hundreds of thousands of candidates. Machine learning assisted approaches have been developed to overcome the time limitations of purely physics-based approaches. These approaches, on the other hand, require large volumes of data for training (hundreds of thousands on many standard data sets such as QM7b). This means that they are limited by how quickly such a large data set of physics-based simulations can be established. At high fidelity, such as configuration interaction, composite methods such as G4, and coupled cluster theory, gathering such a large data set can become infeasible, which can compromise the accuracy of the predictions - many applications require high accuracy, for example band structures and energy levels in semiconductor materials and the energetics of charge transfer in energy storage materials. In order to circumvent this problem, multi-fidelity approaches can be adopted, for example the Δ-ML method, which learns a high-fidelity output from a low-fidelity result such as Hartree-Fock or density functional theory (DFT). The general strategy is to learn a map between the low and high fidelity outputs, so that the high-fidelity output is obtained a simple sum of the physics-based low-fidelity and correction, Although this requires a low-fidelity calculation, it typically requires far fewer high-fidelity results to learn the correction map, and furthermore, the low-fidelity result, such as Hartree-Fock or semi-empirical ZINDO, is typically quick to obtain, For high-fidelity outputs the result can be an order of magnitude or more in speed up. In this work, a new multi-fidelity approach is developed, based on a graph convolutional network (GCN) combined with semi-supervised learning. The GCN allows for the material or molecule to be represented as a graph, which is known to improve accuracy, for example SchNet and MEGNET. The graph incorporates information regarding the numbers of, types and properties of atoms; the types of bonds; and bond angles. They key to the accuracy in multi-fidelity methods, however, is the incorporation of low-fidelity output to learn the high-fidelity equivalent, in this case by learning their difference. Semi-supervised learning is employed to allow for different numbers of low and high-fidelity training points, by using an additional GCN-based low-fidelity map to predict high fidelity outputs. It is shown on 4 different data sets that a significant (at least one order of magnitude) increase in accuracy is obtained, using one to two orders of magnitude fewer low and high fidelity training points. One of the data sets is developed in this work, pertaining to 1000 simulations of quinone molecules (up to 24 atoms) at 5 different levels of fidelity, furnishing the energy, dipole moment and HOMO/LUMO.

Keywords: .materials screening, computational materials, machine learning, multi-fidelity, graph convolutional network, semi-supervised learning

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906 From Medusa to #MeToo: Different Discourses on Sexual Violence with Particular Reference to the Situation in Serbia

Authors: Jelena Riznić

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Sexual violence is a social fact that is both ubiquitous and invisible. From the myth of Medusa and Lucretia, through legends about sexual violence in war conflicts, to Hollywood films and other productions — sexual violence exists as a motive, implicitly or explicitly. Many Hollywood films contain a scene of rape, and the media is increasingly reporting on cases of sexual violence, often not following the guidelines for sensitized and ethical reporting. On the other hand, sexual violence remains an invisible phenomenon if we are talking from the perspective of the survivors. Only the wave of women's testimonies that flooded social networks after the #MeToo campaign in 2017 pointed to the prevalence and to the existing ideas about sexual violence that persist at the level of myths in society, but also through formal norms in the hearing of justice systems. The problem is also in the way rape is defined in the criminal codes of different countries, and all of this affects the reproduction of sexual violence. Precisely because it is a deeply intimate experience of violence, but also a structural problem; on the other hand, understanding sexual violence requires sociological imagination. Accordingly, the subject of this paper is the presentation and analysis of various discourses on sexual violence throughout history — pre/anti-feminist, feminist and criminal law, with particular reference to the situation in Serbia. The paper uses a critical review and comparative analysis of various sources on sexual violence, as well as an analysis of the impact of these sources on the modern legal framework that regulates sexual violence. Research has shown that despite feminist contributions, myths about sexual violence persist and influence the treatment of women who have survived violence in criminal systems and society in general.

Keywords: sexual violence, gender-based violence, MeToo campaign, feminism, Serbia

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905 Trends, Attitude, and Knowledge about the Methods of Labour Pain Management among Polish Women

Authors: Kinga Zebrowska, Maria Falis, Katarzyna Kosinska-Kaczynska, Bartosz Godek, Olga Plaza, Katarzyna Kwiatkowska

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Introduction: According to the ministerial decree of 16 August 2018, each woman in Poland during childbirth has the right to the pharmacological and non-pharmacological labour pain management (LPM). Aim: The aim of the study was to assess the knowledge of Polish mothers about pharmacological and non-pharmacological LPM, to investigate which methods they chose and their satisfaction with chosen ones. Material And Methods: A prospective cross-sectional study was performed among women who gave birth between 2015 and 2018. The self-composed questionnaire was distributed via the Internet in October 2018. Results: 13.727 women participated in the study. 75% have learned about LPM from the Internet. 68% of them did not gain any information on LPM from doctors during their prenatal appointments Safety of the newborn (46%), midwife’s advice (40%) and the chance of the immediate pain relief (39%) were the most important issues while choosing LPM. Respondents used a wide range of non-pharmacological methods, such as the assistance of partner during labour (81%), physical activity (58%), immersion in water (37%), relaxation techniques (15%) and others. 11% of mothers did not use any of the LPM methods. 52% of women declared that they wanted to use the pharmacological anaesthesia, while 49% had it performed (28% epidural, 16% inhaled anaesthesia, 5% parenteral opioids). Pharmacological methods were unavailable due to lack of anaesthesiologist in the maternity ward (41%) or inaccessibility of the chosen methods in the hospital (31%) and too advanced labour (43%). 48% of respondents did not decide to use pharmacological methods, because the pain was bearable (29%), anxiety of child’s health (17%), or belief that the pain is natural and it should not be avoided (16%). 83% of respondents believed that epidural analgesia has no influence on the time needed to gain a full cervix dilatation and 81% of them claimed that serious spinal cord injury is a common side effect of epidural. 51% believed that epidural increases the risk of caesarean section. Conclusions: The knowledge about the methods of LPM is not satisfactory. We should focus on well- maintained education guided by doctors, midwives, and media.

Keywords: childbirth, labour pain management, maternity experiences, obstetrics

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904 Spatial Variability of Soil Pollution and Health Risks Due to Long-Term Wastewater Irrigation in Egypt

Authors: Mohamed Eladham Fadl M. E. Fadl

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In Egypt, wastewater has been used for irrigation in areas with fresh water scarcity. However, continuous applications may cause potential risks. Thus, the current study aims at screening the impacts of long-term wastewater irrigation on soil pollution and human health due to the exposure of heavy metals. Soils of nine sites in Al-Qalyubiyah Governorate, Egypt were sampled and analyzed for different properties. Wastewater resulted in a build-up of metals in soils. The pollution index (PI) showed the order of Cd > Pb > Ni > Zn. The integrated pollution index of Nemerow’s (IPIN) exceeded the safe limit of 0.7. The enrichment factor (EF) surpassed 1.0 value proving anthropogenic effects. The geo-accumulation index (Igeo) indicated that Pb, Ni, and Zn-induced none to moderate pollution, while high threats were associated with Cd. The calculated hazard index proved a potential health risk for humans, particularly children. It is recommended to perform a treatment to the wastewater used in irrigation to avoid such threats.

Keywords: pollution, health risks, heavy metals, effluent, irrigation, GIS techniques

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903 Role of HLA Typing in Celiac Disease

Authors: Meriche Hacene

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Introduction: Celiac disease (CD) is a chronic immune-mediated enteropathy triggered by gluten found in wheat or oats or rye. Celiac disease is associated with the HLA-DQ2 and HLA-DQ8 susceptibility alleles. This association with the HLA DQ2/DQ8 molecules confirmed the responsibility of genetic factors that intervene in the triggering of the autoimmune process of this condition. Objective: To evaluate the results of HLA DQ2 and HLA DQ8 typing of 40 patients suspected of having CD by PCR-SSP (Polymerase Chain Reaction Sequence Specific Primers). Material and method : 40 patients suspected of celiac disease with IgA transglutaminase serology (-) and duodenal biopsy (+). HLADR/DQ PCR-SSP (fluogen-innotrain) typing was carried out. Results : The average age of adults was 40 years, children: 4 years, the sex ratio was 1M/3F. In our patients the HLA DQ2 allele is found with a frequency of 75%, the DQ8 with a frequency of 25%, 17.5% were HLA-DQ2 homozygous and 15% were HLADQ2/HLADQ8. In our series, HLADQ2, DQ8 are found in almost all patients with a frequency of 95%. 30% of patients in our study had associated positivity of HLA-DRB3, DRB4 or DRB5 alleles. Conclusion : A high prevalence of positivity of HLADQ2 alleles at the expense of HLA DQ8 was found, which is consistent with literature data. These molecules constitute an additional marker for screening and diagnosis of CD.

Keywords: HLA typing, coeliac disease, HLA DQ 2, HLA DQ8

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902 A Mixing Matrix Estimation Algorithm for Speech Signals under the Under-Determined Blind Source Separation Model

Authors: Jing Wu, Wei Lv, Yibing Li, Yuanfan You

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The separation of speech signals has become a research hotspot in the field of signal processing in recent years. It has many applications and influences in teleconferencing, hearing aids, speech recognition of machines and so on. The sounds received are usually noisy. The issue of identifying the sounds of interest and obtaining clear sounds in such an environment becomes a problem worth exploring, that is, the problem of blind source separation. This paper focuses on the under-determined blind source separation (UBSS). Sparse component analysis is generally used for the problem of under-determined blind source separation. The method is mainly divided into two parts. Firstly, the clustering algorithm is used to estimate the mixing matrix according to the observed signals. Then the signal is separated based on the known mixing matrix. In this paper, the problem of mixing matrix estimation is studied. This paper proposes an improved algorithm to estimate the mixing matrix for speech signals in the UBSS model. The traditional potential algorithm is not accurate for the mixing matrix estimation, especially for low signal-to noise ratio (SNR).In response to this problem, this paper considers the idea of an improved potential function method to estimate the mixing matrix. The algorithm not only avoids the inuence of insufficient prior information in traditional clustering algorithm, but also improves the estimation accuracy of mixing matrix. This paper takes the mixing of four speech signals into two channels as an example. The results of simulations show that the approach in this paper not only improves the accuracy of estimation, but also applies to any mixing matrix.

Keywords: DBSCAN, potential function, speech signal, the UBSS model

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901 Characteristic and Prevalence of Cleft Lip and Palate Patient in Bandung Cleft Lip and Palate Center: A Descriptive Study

Authors: Kusmayadi Ita Nursita, Sundoro Ali

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Cleft lip and palate are one of the most common congenital abnormalities in the face. It could happen to anyone, but mostly affect Asian population including Indonesia. Factors that influence the occurrence of cleft lip and palate vary from genetic to environmental factors. Children with cleft lip and palate will often have various problems such as airway disorders, eating disorders, speech and language developmental disorders, hearing disorders and psycho-social disorders, one of which is caused by appearance disorders. During his life, the child will experience multidisciplinary surgery and non-surgical treatment and can be accompanied by a psychological and financial burden on himself and his family. In Indonesia, there are no detailed scientific data on the prevalence and characteristic of cleft lip and palate patients. It was mainly caused by the absence of a national level organization, differences in geographical location, and the absence of national guidelines. This study aimed to describe the characteristic and prevalence of cleft lip and palate patients in Bandung Cleft Lip and Palate Center from 1 January 2016 to 31 December 2017. A total of 560 patients were included in the study. The highest percentage of cases are left unilateral cleft lip and palate with higher number of female patient and labioplasty as the most often surgical procedure to be conducted in Bandung Cleft Lip and Palate Center. In order to improve quality of life in patients with cleft lip and palate, early recognition and early treatment based on actual comprehensive data should be conducted. The data from Bandung Cleft Lip and Palate Center as one of the largest center of cleft lip and palate in West Java Indonesia hopefully could provide a big step of further comprehensive data collection in Indonesia and for the better overall management of cleft lip and palate in the future.

Keywords: cleft lip, cleft palate, characteristic, prevalence

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900 Enhancing Academic Achievement of University Student through Stress Management Training: A Study from Southern Punjab, Pakistan

Authors: Rizwana Amin, Afshan Afroze Bhatti

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The study was a quasi-experimental pre-post test design including two groups. Data was collected from 127 students through non-probability random sampling from Bahaudin Zakariya University Multan. The groups were given pre-test using perceived stress scale and information about academic achievement was taken by self-report. After screening, 27 participants didn’t meet the criterion. Remaining 100 participants were divided into two groups (experimental and control). Further, 4 students of experimental group denied taking intervention. Then 46 understudies were separated into three subgroups (16, 15 and 15 in each) for training. The experimental groups were given the stress management training, each of experimental group attended one 3-hour training sessions separately while the control group was only given pre-post assessment. The data were analyzed using ANCOVA method (analysis of covariance) t–test. Results of the study indicate that stress training will lead to increased emotional intelligence and academic achievement of students.

Keywords: stress, stress management, academic achievement, students

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899 Inpatient Neonatal Deaths in Rural Uganda: A Retrospective Comparative Mortality Study of Labour Ward versus Community Admissions

Authors: Najade Sheriff, Malaz Elsaddig, Kevin Jones

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Background: Death in the first month of life accounts for an increasing proportion of under-five mortality. Advancement to reduce this number is being made across the globe; however, progress is slowest in sub-Saharan Africa. Objectives: The study aims to identify differences between neonatal deaths of inpatient babies born in a hospital facility in rural Uganda to those of neonates admitted from the community and to explore whether they can be used to risk stratify neonatal admissions. Results: A retrospective chart review was conducted on records for neonates admitted to the Special Care Baby Unit (SCBU) Kitovu Hospital from 1st July 2016 to 21st July 2017. A total of 442 babies were admitted and the overall neonatal mortality was 24.8% (40% inpatient, 37% community, 23% hospital referrals). 40% of deaths occurred within 24 hours of admission and the majority were male (63%). 43% of babies were hypothermic upon admission, a significantly greater proportion of which were inpatient babies born in labour ward (P=0.0025). Intrapartum related death accounted for ½ of all inpatient babies whereas complications of prematurity were the predominant cause of death in the community group (37%). Severe infection does not seem like a significant factor of mortality for inpatients (2%) as it does for community admissions (29%). Furthermore, with 52.5% of community admissions weighing < 1500g, very low birth weight (VLBW) may be a significant risk factor for community neonatal death. Conclusion: The neonatal mortality rate in this study is high, and the leading causes of death are all largely preventable. A high rate of inpatient birth asphyxiation indicates the need for good quality facility-based perinatal care as well as a greater focus on the management of hypothermia, such as Kangaroo care. Moreover, a reduction in preterm deliveries is necessary to reduce associated comorbidities, and monitoring for signs of infection is especially important for community admissions.

Keywords: community, mortality, newborn, Uganda

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898 Intervention To Prevent Infections And Reinfections With Intestinal Parasites In People Living With Human Immunodeficiency Virus In Some Parts Of Eastern Cape, South Africa

Authors: Ifeoma Anozie, Teka Apalata, Dominic Abaver

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Introduction: Despite use of Anti-retroviral therapy to reduce the incidence of opportunistic infections among HIV/AIDS patients, rapid episodes of re-infection after deworming are still common occurrences because pharmaceutical intervention alone does not prevent reinfection. Unsafe water and inadequate personal hygiene and parasitic infections are widely expected to accelerate the progression of HIV infection. This is because the chronic immunosuppression of HIV infection encourages susceptibility to opportunistic (including parasitic) infections which is linked to CD4+ cell count of <200 cells/μl. Intestinal parasites such as G. intestinalis and Entamoeba spp are ubiquitous protozoa that remain infectious over a long time in an environment and show resistance to standard disinfection. To control re-infection, the social factors that underpin the prevention need to be controlled. This study aims at prevention of intestinal parasites in people living with HIV/AIDS by using a treatment, hygiene education and sanitation (THEdS) bundle approach. Methods: This study was conducted in four clinics (Ngangelizwe health centre, Tsolo gateway clinic, Idutywa health centre and Nqamakwe health centre) across the seven districts in Eastern cape, South Africa. The four clinics were divided in two: experimental and control, for the purpose of intervention. Data was collected from March 2019 to February 2020. Six hundred participants were screened for intestinal parasitic infections. Stool samples were collected and analysed twice: before (Pre-test infection screening) and after (Post-test re-infection) THEdS bundle intervention. The experimental clinics received full intervention package, which include therapeutic treatment, health education on personal hygiene and sanitation training, while the control clinics received only therapeutic treatment for those found with intestinal parasitic infections. Results: Baseline prevalence of Intestinal Parasites isolated shows 12 intestinal parasites with overall frequency of 65, with Ascaris lumbricoides having most frequency (44.6%). The intervention had a cure rate of 60%, with odd ratio of 1.42, which indicates that the intervention group is 1.42 times more likely of parasite clearing as compared to the control group. The relative risk ratio of 1.17 signifies that there is 1.17 times more likelihood to clear intestinal parasite if there no intervention. Discussion and conclusion: Infection with multiple parasites can cause health defects, especially among HIV/AIDS patients. Efficiency of some HIV vaccines in HIV/AIDS patients is affected because treatment of re-infection amplifies drug resistance, affects the efficacy of the front-line drugs, and still permits transmission. In South Africa, treatment of intestinal parasites is usually offered to clinic attending HIV/AIDS patients upon suspicion but not as a mandate for patients being initiated into Antiretroviral (ART) program. The effectiveness of THEdS bundle advocates for inclusiveness of mandatory screening for intestinal parasitic infections among attendees of HIV/Aids clinics on regular basis.

Keywords: cure rate, , HIV/AIDS patients, intestinal parasites, intervention studies, reinfection rate

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897 Development of the Drug Abuse Health Information System in Thai Community

Authors: Waraporn Boonchieng, Ekkarat Boonchieng, Sivaporn Aungwattana, Decha Tamdee, Wongamporn Pinyavong

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Drug addiction represents one of the most important public health issues in both developed and developing countries. The purpose of this study was to develop a drug abuse health information in a community in Northern Thailand using developmental research design. The developmental researchers performed four phases to develop drug abuse health information, including 1) synthesizing knowledge related to drug abuse prevention and identifying the components of drug abuse health information; 2) developing the system in mobile application and website; 3) implementing drug abuse health information in the rural community; and 4) evaluating the feasibility of drug abuse health information. Data collection involved both qualitative and quantitative procedures. The qualitative data and quantitative data were analyzed using content analysis and descriptive statistics, respectively. The findings of this study showed that drug abuse health information consisted of five sections, including drug-related prevention knowledge for teens, drug-related knowledge for adults and professionals, the database for drug dependence treatment centers, self-administered questionnaires, and supportive counseling sections. First, in drug-related prevention knowledge for teens, the developmental researchers designed four infographics and animation to provide drug-related prevention knowledge, including types of illegal drugs, causes of drug abuse, consequences of drug abuse, drug abuse diagnosis and treatment, and drug abuse prevention. Second, in drug-related knowledge for adults and professionals, the developmental researchers developed many documents in a form of PDF file to provide drug-related knowledge, including types of illegal drugs, causes of drug abuse, drug abuse prevention, and relapse prevention guideline. Third, database for drug dependence treatment centers included the place, direction map, operation time, and the way for contacting all drug dependence treatment centers in Thailand. Fourth, self-administered questionnaires comprised preventive drugs behavior questionnaire, drug abuse knowledge questionnaire, the stages of change readiness and treatment eagerness to drug use scale, substance use behaviors questionnaire, tobacco use behaviors questionnaire, stress screening, and depression screening. Finally, for supportive counseling, the developmental researchers designed chatting box through which each user could write and send their concerns to counselors individually. Results from evaluation process showed that 651 participants used drug abuse health information via mobile application and website. Among all users, 48.8% were males and 51.2% were females. More than half (55.3%) were 15-20 years old and most of them (88.0%) were Buddhists. Most users reported ever getting knowledge related to drugs (86.1%), and drinking alcohol (94.2%) while some of them (6.9%) reported ever using tobacco. For satisfaction with using the drug abuse health information, more than half of users reflected that the contents of drug abuse health information were interesting (59%), up-to date (61%), and highly useful to their self-study (59%) at high level. In addition, half of them were satisfied with the design in terms of infographics (54%) and animation (51%). Thus, this drug abuse health information can be adopted to explore drug abuse situation and serves as a tool to prevent drug abuse and addiction among Thai community people.

Keywords: drug addiction, health informatics, big data, development research

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896 Assessing Relationships between Glandularity and Gray Level by Using Breast Phantoms

Authors: Yun-Xuan Tang, Pei-Yuan Liu, Kun-Mu Lu, Min-Tsung Tseng, Liang-Kuang Chen, Yuh-Feng Tsai, Ching-Wen Lee, Jay Wu

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Breast cancer is predominant of malignant tumors in females. The increase in the glandular density increases the risk of breast cancer. BI-RADS is a frequently used density indicator in mammography; however, it significantly overestimates the glandularity. Therefore, it is very important to accurately and quantitatively assess the glandularity by mammography. In this study, 20%, 30% and 50% glandularity phantoms were exposed using a mammography machine at 28, 30 and 31 kVp, and 30, 55, 80 and 105 mAs, respectively. The regions of interest (ROIs) were drawn to assess the gray level. The relationship between the glandularity and gray level under various compression thicknesses, kVp, and mAs was established by the multivariable linear regression. A phantom verification was performed with automatic exposure control (AEC). The regression equation was obtained with an R-square value of 0.928. The average gray levels of the verification phantom were 8708, 8660 and 8434 for 0.952, 0.963 and 0.985 g/cm3, respectively. The percent differences of glandularity to the regression equation were 3.24%, 2.75% and 13.7%. We concluded that the proposed method could be clinically applied in mammography to improve the glandularity estimation and further increase the importance of breast cancer screening.

Keywords: mammography, glandularity, gray value, BI-RADS

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895 Functional Analysis of Thyroid Peroxidase (TPO) Gene Mutations Detected in Patients with Thyroid Dyshormonogenesis

Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

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Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

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894 Functional Analysis of Thyroid Peroxidase Gene Mutations Detected in Patients with Thyroid Dyshormonogenesis

Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

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Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

Procedia PDF Downloads 341