Search results for: shRNA-library screening
862 Application of an Artificial Neural Network to Determine the Risk of Malignant Tumors from the Images Resulting from the Asymmetry of Internal and External Thermograms of the Mammary Glands
Authors: Amdy Moustapha Drame, Ilya V. Germashev, E. A. Markushevskaya
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Among the main problems of medicine is breast cancer, from which a significant number of women around the world are constantly dying. Therefore, the detection of malignant breast tumors is an urgent task. For many years, various technologies for detecting these tumors have been used, in particular, in thermal imaging in order to determine different levels of breast cancer development. These periodic screening methods are a diagnostic tool for women and may have become an alternative to older methods such as mammography. This article proposes a model for the identification of malignant neoplasms of the mammary glands by the asymmetry of internal and external thermal imaging fields.Keywords: asymmetry, breast cancer, tumors, deep learning, thermogram, convolutional transformation, classification
Procedia PDF Downloads 60861 Schema Therapy as Treatment for Adults with Autism Spectrum Disorder and Comorbid Personality Disorder: A Multiple Baseline Case Series Study Testing Cognitive-Behavioral and Experiential Interventions
Authors: Richard Vuijk, Arnoud Arntz
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Rationale: To our knowledge treatment of personality disorder comorbidity in adults with autism spectrum disorder (ASD) is understudied and is still in its infancy: We do not know if treatment of personality disorders may be applicable to adults with ASD. In particular, it is unknown whether patients with ASD benefit from experiential techniques that are part of schema therapy developed for the treatment of personality disorders. Objective: The aim of the study is to investigate the efficacy of a schema mode focused treatment with adult clients with ASD and comorbid personality pathology (i.e. at least one personality disorder). Specifically, we investigate if they can benefit from both cognitive-behavioral, and experiential interventions. Study design: A multiple baseline case series study. Study population: Adult individuals (age > 21 years) with ASD and at least one personality disorder. Participants will be recruited from Sarr expertise center for autism in Rotterdam. The study requires 12 participants. Intervention: The treatment protocol consists of 35 weekly offered sessions, followed by 10 monthly booster sessions. A multiple baseline design will be used with baseline varying from 5 to 10 weeks, with weekly supportive sessions. After baseline, a 5-week exploration phase follows with weekly sessions during which current and past functioning, psychological symptoms, schema modes are explored, and information about the treatment will be given. Then 15 weekly sessions with cognitive-behavioral interventions and 15 weekly sessions with experiential interventions will be given. Finally, there will be a 10-month follow-up phase with monthly booster sessions. Participants are randomly assigned to baseline length, and respond weekly during treatment and monthly at follow-up on Belief Strength of negative core beliefs (by VAS), and fill out SMI, SCL-90 and SRS-A 7 times during screening procedure (i.e. before baseline), after baseline, after exploration, after cognitive and behavioral interventions, after experiential interventions, and after 5- and 10- month follow-up. The SCID-II will be administered during screening procedure (i.e. before baseline), at 5- and at 10-month follow-up. Main study parameters: The primary study parameter is negative core beliefs. Secondary study parameters include schema modes, personality disorder manifestations, psychological symptoms, and social interaction and communication. Discussion: To the best of author’s knowledge so far no study has been published on the application of schema mode focused interventions in adult patients with ASD and comorbid PD(s). This study offers the first systematic test of application of schema therapy for adults with ASD. The results of this study will provide initial evidence for the effectiveness of schema therapy in treating adults with both ASD and PD(s). The study intends to provide valuable information for future development and implementation of therapeutic interventions for adults with both ASD and PD(s).Keywords: adults, autism spectrum disorder, personality disorder, schema therapy
Procedia PDF Downloads 239860 Multidisciplinary Approach to Diagnosis of Primary Progressive Aphasia in a Younger Middle Aged Patient
Authors: Robert Krause
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Primary progressive aphasia (PPA) is a neurodegenerative disease similar to frontotemporal and semantic dementia, while having a different clinical image and anatomic pathology topography. Nonetheless, they are often included under an umbrella term: frontotemporal lobar degeneration (FTLD). In the study, examples of diagnosing PPA are presented through the multidisciplinary lens of specialists from different fields (neurologists, psychiatrists, clinical speech therapists, clinical neuropsychologists and others) using a variety of diagnostic tools such as MR, PET/CT, genetic screening and neuropsychological and logopedic methods. Thanks to that, specialists can get a better and clearer understanding of PPA diagnosis. The study summarizes the concrete procedures and results of different specialists while diagnosing PPA in a patient of younger middle age and illustrates the importance of multidisciplinary approach to differential diagnosis of PPA.Keywords: primary progressive aphasia, etiology, diagnosis, younger middle age
Procedia PDF Downloads 195859 Contingency Screening Using Risk Factor Considering Transmission Line Outage
Authors: M. Marsadek, A. Mohamed
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Power system security analysis is the most time demanding process due to large number of possible contingencies that need to be analyzed. In a power system, any contingency resulting in security violation such as line overload or low voltage may occur for a number of reasons at any time. To efficiently rank a contingency, both probability and the extent of security violation must be considered so as not to underestimate the risk associated with the contingency. This paper proposed a contingency ranking method that take into account the probabilistic nature of power system and the severity of contingency by using a newly developed method based on risk factor. The proposed technique is implemented on IEEE 24-bus system.Keywords: line overload, low voltage, probability, risk factor, severity
Procedia PDF Downloads 545858 Pharmacognostical and Phytochemical Investigation of the Endemic Medicinal Plant Tekchebilium arvensis Linn
Authors: K. Bengango, H. Mesahsah, F. Haseb-Reho, J. M. Tafrate
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This present work was conducted to explore the micro-morphology and phytochemical characterization of the endemic medicinal plant Tekchebilium arvensis Linn (Asteraceae). Macroscopy, microscopy, physicochemical analysis and WHO recommended parameters for standardizations were performed. Microscopic evaluation revealed the presence of abaxial epidermis with paracytic stomata. Petiole showed epidermis, vascular strands, ground tissue and secretary cavities. Physico-chemical tests like ash values, loss on drying, extractive values were determined. Preliminary phytochemical screening showed the presence of sterols, tannins, flavonoids, glycosides, volatile oil, terpenoids, saponin and alkaloids.Keywords: Tekchebilium arvensis Linn, Asteraceae, microscopical evaluation, phytochemical, powder microscopy, standardization
Procedia PDF Downloads 435857 Screening of Potential Sources of Tannin and Its Therapeutic Application
Authors: Mamta Kumari, Shashi Jain
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Tannins are a unique category of plant phytochemicals especially in terms of their vast potential health-benefiting properties. Researchers have described the capacity of tannins to enhance glucose uptake and inhibit adipogenesis, thus being potential drugs for the treatment of non-insulin dependent diabetes mellitus. Thus, the present research was conducted to find out tannin content of food products. The percentage of tannin in various analyzed sources ranged from 0.0 to 108.53%; highest in kathaa and lowest in ker and mango bark. The percentage of tannins present in the plants, however, varies. Numerous studies have confirmed that the naturally occurring polyphenols are key factor for the beneficial effects of the herbal medicines. Isolation and identification of active constituents from plants, preparation of standardized dose & dosage regimen can play a significant role in improving the hypoglycaemic action.Keywords: tannins, diabetes, polyphenols, antioxidant, hypoglycemia
Procedia PDF Downloads 392856 Deep Convolutional Neural Network for Detection of Microaneurysms in Retinal Fundus Images at Early Stage
Authors: Goutam Kumar Ghorai, Sandip Sadhukhan, Arpita Sarkar, Debprasad Sinha, G. Sarkar, Ashis K. Dhara
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Diabetes mellitus is one of the most common chronic diseases in all countries and continues to increase in numbers significantly. Diabetic retinopathy (DR) is damage to the retina that occurs with long-term diabetes. DR is a major cause of blindness in the Indian population. Therefore, its early diagnosis is of utmost importance towards preventing progression towards imminent irreversible loss of vision, particularly in the huge population across rural India. The barriers to eye examination of all diabetic patients are socioeconomic factors, lack of referrals, poor access to the healthcare system, lack of knowledge, insufficient number of ophthalmologists, and lack of networking between physicians, diabetologists and ophthalmologists. A few diabetic patients often visit a healthcare facility for their general checkup, but their eye condition remains largely undetected until the patient is symptomatic. This work aims to focus on the design and development of a fully automated intelligent decision system for screening retinal fundus images towards detection of the pathophysiology caused by microaneurysm in the early stage of the diseases. Automated detection of microaneurysm is a challenging problem due to the variation in color and the variation introduced by the field of view, inhomogeneous illumination, and pathological abnormalities. We have developed aconvolutional neural network for efficient detection of microaneurysm. A loss function is also developed to handle severe class imbalance due to very small size of microaneurysms compared to background. The network is able to locate the salient region containing microaneurysms in case of noisy images captured by non-mydriatic cameras. The ground truth of microaneurysms is created by expert ophthalmologists for MESSIDOR database as well as private database, collected from Indian patients. The network is trained from scratch using the fundus images of MESSIDOR database. The proposed method is evaluated on DIARETDB1 and the private database. The method is successful in detection of microaneurysms for dilated and non-dilated types of fundus images acquired from different medical centres. The proposed algorithm could be used for development of AI based affordable and accessible system, to provide service at grass root-level primary healthcare units spread across the country to cater to the need of the rural people unaware of the severe impact of DR.Keywords: retinal fundus image, deep convolutional neural network, early detection of microaneurysms, screening of diabetic retinopathy
Procedia PDF Downloads 141855 Detection of Some Drugs of Abuse from Fingerprints Using Liquid Chromatography-Mass Spectrometry
Authors: Ragaa T. Darwish, Maha A. Demellawy, Haidy M. Megahed, Doreen N. Younan, Wael S. Kholeif
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The testing of drug abuse is authentic in order to affirm the misuse of drugs. Several analytical approaches have been developed for the detection of drugs of abuse in pharmaceutical and common biological samples, but few methodologies have been created to identify them from fingerprints. Liquid Chromatography-Mass Spectrometry (LC-MS) plays a major role in this field. The current study aimed at assessing the possibility of detection of some drugs of abuse (tramadol, clonazepam, and phenobarbital) from fingerprints using LC-MS in drug abusers. The aim was extended in order to assess the possibility of detection of the above-mentioned drugs in fingerprints of drug handlers till three days of handling the drugs. The study was conducted on randomly selected adult individuals who were either drug abusers seeking treatment at centers of drug dependence in Alexandria, Egypt or normal volunteers who were asked to handle the different studied drugs (drug handlers). An informed consent was obtained from all individuals. Participants were classified into 3 groups; control group that consisted of 50 normal individuals (neither abusing nor handling drugs), drug abuser group that consisted of 30 individuals who abused tramadol, clonazepam or phenobarbital (10 individuals for each drug) and drug handler group that consisted of 50 individuals who were touching either the powder of drugs of abuse: tramadol, clonazepam or phenobarbital (10 individuals for each drug) or the powder of the control substances which were of similar appearance (white powder) and that might be used in the adulteration of drugs of abuse: acetyl salicylic acid and acetaminophen (10 individuals for each drug). Samples were taken from the handler individuals for three consecutive days for the same individual. The diagnosis of drug abusers was based on the current Diagnostic and Statistical Manual of Mental disorders (DSM-V) and urine screening tests using immunoassay technique. Preliminary drug screening tests of urine samples were also done for drug handlers and the control groups to indicate the presence or absence of the studied drugs of abuse. Fingerprints of all participants were then taken on a filter paper previously soaked with methanol to be analyzed by LC-MS using SCIEX Triple Quad or QTRAP 5500 System. The concentration of drugs in each sample was calculated using the regression equations between concentration in ng/ml and peak area of each reference standard. All fingerprint samples from drug abusers showed positive results with LC-MS for the tested drugs, while all samples from the control individuals showed negative results. A significant difference was noted between the concentration of the drugs and the duration of abuse. Tramadol, clonazepam, and phenobarbital were also successfully detected from fingerprints of drug handlers till 3 days of handling the drugs. The mean concentration of the chosen drugs of abuse among the handlers group decreased when the days of samples intake increased.Keywords: drugs of abuse, fingerprints, liquid chromatography–mass spectrometry, tramadol
Procedia PDF Downloads 119854 Determining the Causality Variables in Female Genital Mutilation: A Factor Screening Approach
Authors: Ekele Alih, Enejo Jalija
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Female Genital Mutilation (FGM) is made up of three types namely: Clitoridectomy, Excision and Infibulation. In this study, we examine the factors responsible for FGM in order to identify the causality variables in a logistic regression approach. From the result of the survey conducted by the Public Health Division, Nigeria Institute of Medical Research, Yaba, Lagos State, the tau statistic, τ was used to screen 9 factors that causes FGM in order to select few of the predictors before multiple regression equation is obtained. The need for this may be that the sample size may not be able to sustain having a regression with all the predictors or to avoid multi-collinearity. A total of 300 respondents, comprising 150 adult males and 150 adult females were selected for the household survey based on the multi-stage sampling procedure. The tau statistic,Keywords: female genital mutilation, logistic regression, tau statistic, African society
Procedia PDF Downloads 261853 Enhanced Furfural Extraction from Aqueous Media Using Neoteric Hydrophobic Solvents
Authors: Ahmad S. Darwish, Tarek Lemaoui, Hanifa Taher, Inas M. AlNashef, Fawzi Banat
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This research reports a systematic top-down approach for designing neoteric hydrophobic solvents –particularly, deep eutectic solvents (DES) and ionic liquids (IL)– as furfural extractants from aqueous media for the application of sustainable biomass conversion. The first stage of the framework entailed screening 32 neoteric solvents to determine their efficacy against toluene as the application’s conventional benchmark for comparison. The selection criteria for the best solvents encompassed not only their efficiency in extracting furfural but also low viscosity and minimal toxicity levels. Additionally, for the DESs, their natural origins, availability, and biodegradability were also taken into account. From the screening pool, two neoteric solvents were selected: thymol:decanoic acid 1:1 (Thy:DecA) and trihexyltetradecyl phosphonium bis(trifluoromethylsulfonyl) imide [P₁₄,₆,₆,₆][NTf₂]. These solvents outperformed the toluene benchmark, achieving efficiencies of 94.1% and 97.1% respectively, compared to toluene’s 81.2%, while also possessing the desired properties. These solvents were then characterized thoroughly in terms of their physical properties, thermal properties, critical properties, and cross-contamination solubilities. The selected neoteric solvents were then extensively tested under various operating conditions, and an exceptional stable performance was exhibited, maintaining high efficiency across a broad range of temperatures (15–100 °C), pH levels (1–13), and furfural concentrations (0.1–2.0 wt%) with a remarkable equilibrium time of only 2 minutes, and most notably, demonstrated high efficiencies even at low solvent-to-feed ratios. The durability of the neoteric solvents was also validated to be stable over multiple extraction-regeneration cycles, with limited leachability to the aqueous phase (≈0.1%). Moreover, the extraction performance of the solvents was then modeled through machine learning, specifically multiple non-linear regression (MNLR) and artificial neural networks (ANN). The models demonstrated high accuracy, indicated by their low absolute average relative deviations with values of 2.74% and 2.28% for Thy:DecA and [P₁₄,₆,₆,₆][NTf₂], respectively, using MNLR, and 0.10% for Thy:DecA and 0.41% for [P₁₄,₆,₆,₆][NTf₂] using ANN, highlighting the significantly enhanced predictive accuracy of the ANN. The neoteric solvents presented herein offer noteworthy advantages over traditional organic solvents, including their high efficiency in both extraction and regeneration processes, their stability and minimal leachability, making them particularly suitable for applications involving aqueous media. Moreover, these solvents are more environmentally friendly, incorporating renewable and sustainable components like thymol and decanoic acid. This exceptional efficacy of the newly developed neoteric solvents signifies a significant advancement, providing a green and sustainable alternative for furfural production from biowaste.Keywords: sustainable biomass conversion, furfural extraction, ionic liquids, deep eutectic solvents
Procedia PDF Downloads 69852 Effect of Vitrification on Embryos Euploidy Obtained from Thawed Oocytes
Authors: Natalia Buderatskaya, Igor Ilyin, Julia Gontar, Sergey Lavrynenko, Olga Parnitskaya, Ekaterina Ilyina, Eduard Kapustin, Yana Lakhno
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Introduction: It is known that cryopreservation of oocytes has peculiar features due to the complex structure of the oocyte. One of the most important features is that mature oocytes contain meiotic division spindle which is very sensitive even to the slightest variation in temperature. Thus, the main objective of this study is to analyse the resulting euploid embryos obtained from thawed oocytes in comparison with the data of preimplantation genetic screening (PGS) in fresh embryo cycles. Material and Methods: The study was conducted at 'Medical Centre IGR' from January to July 2016. Data were analysed for 908 donor oocytes obtained in 67 cycles of assisted reproductive technologies (ART), of which 693 oocytes were used in the 51 'fresh' cycles (group A), and 215 oocytes - 16 ART programs with vitrification female gametes (group B). The average age of donors in the groups match 27.3±2.9 and 27.8±6.6 years. Stimulation of superovulation was conducted the standard way. Vitrification was performed in 1-2 hours after transvaginal puncture and thawing of oocytes were carried out in accordance with the standard protocol of Cryotech (Japan). Manipulation ICSI was performed 4-5 hours after transvaginal follicle puncture for fresh oocytes, or after defrosting - for vitrified female gametes. For the PGS, an embryonic biopsy was done on the third or on the fifth day after fertilization. Diagnostic procedures were performed using fluorescence in situ hybridization with the study of such chromosomes as 13, 16, 18, 21, 22, X, Y. Only morphologically quality blastocysts were used for the transfer, the estimation of which corresponded to the Gardner criteria. The statistical hypotheses were done using the criteria t, x^2 at a significance levels p<0.05, p<0.01, p<0.001. Results: The mean number of mature oocytes per cycle in group A was 13.58±6.65 and in group B - 13.44±6.68 oocytes for patient. The survival of oocytes after thawing totaled 95.3% (n=205), which indicates a highly effective quality of performed vitrification. The proportion of zygotes in the group A corresponded to 91.1%(n=631), in the group B – 80.5%(n=165), which shows statistically significant difference between the groups (p<0.001) and explained by non-viable oocytes elimination after vitrification. This is confirmed by the fact that on the fifth day of embryos development a statistically significant difference in the number of blastocysts was absent (p>0.05), and constituted respectively 61.6%(n=389) and 63.0%(n=104) in the groups. For the PGS performing 250 embryos analyzed in the group A and 72 embryos - in the group B. The results showed that euploidy in the studied chromosomes were 40.0%(n=100) embryos in the group A and 41.7% (n=30) - in the group B, which shows no statistical significant difference (p>0.05). The indicators of clinical pregnancies in the groups amounted to 64.7% (22 pregnancies per 34 embryo transfers) and 61.5% (8 pregnancies per 13 embryo transfers) respectively, and also had no significant difference between the groups (p>0.05). Conclusions: The results showed that the vitrification does not affect the resulting euploid embryos in assisted reproductive technologies and are not reflected in their morphological characteristics in ART programs.Keywords: euploid embryos, preimplantation genetic screening, thawing oocytes, vitrification
Procedia PDF Downloads 334851 Prevalence of Positive Serology for Celiac Disease in Children With Autism Spectrum Disorder
Authors: A. Venkatakrishnan, M. Juneja, S. Kapoor
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Background: Gastrointestinal dysfunction is an emerging co morbidity seen in autism and may further strengthen the association between autism and celiac disease. This is supported by increased rates (22-70%) of gastrointestinal symptoms like diarrhea, constipation, abdominal discomfort/pain, and gastrointestinal inflammation in children with the etiology of autism is still elusive. In addition to genetic factors, environmental factors such as toxin exposure, intrauterine exposure to certain teratogenic drugs, are being proposed as possible contributing factors in the etiology of Autism Spectrum Disorders (ASD) in cognizance with reports of increased gut permeability and high rates of gastrointestinal symptoms noted in children with ASD, celiac disease has also been proposed as a possible etiological factor. Despite insufficient evidence regarding the benefit of restricted diets in Autism, GFD has been promoted as an alternative treatment for ASD. This study attempts to discern any correlation between ASD and celiac disease. Objective: This cross sectional study aims to determine the proportion of celiac disease in children with ASD. Methods: Study included 155 participants aged 2-12 yrs, diagnosed as ASD as per DSM-5 attending the child development center at a tertiary care hospital in Northern India. Those on gluten free diet or having other autoimmune conditions were excluded. A detailed Performa was filled which included sociodemographic details, history of gastrointestinal symptoms, anthropometry, systemic examination, and pertinent psychological testing was done using was assessed using Developmental Profile-3(DP-3) for Developmental Quotient, Childhood Autism Rating Scale-2 (CARS-2) for severity of ASD, Vineland Adaptive Behavior Scales (VABS) for adaptive behavior, Child Behavior Checklist (CBCL) for behavioral problems and BAMBI (Brief Autism Mealtime Behavior Scales) for feeding problems. Screening for celiac was done by TTG-IgA levels, and total serum IgA levels were measured to exclude IgA deficiency. Those with positive screen were further planned for HLA typing and endoscopic biopsy. Results: A total of 155 cases were included, out of which 5 had low IgA levels and were hence excluded from the study. The rest 150 children had TTG levels below the ULN and normal total serum IgA level. History of Gastrointestinal symptoms was present in 51 (34%) cases abdominal pain was the most frequent complaint (16.6%), followed by constipation (12.6%). Diarrhea was seen in 8 %. Gastrointestinal symptoms were significantly more common in children with ASD above 5 yrs (p-value 0.006) and those who were verbal (p = 0.000). There was no significant association between socio-demographic factors, anthropometric data, or severity of autism with gastrointestinal symptoms. Conclusion: None of the150 patients with ASD had raised TTG levels; hence no association was found between ASD and celiac disease. There is no justification for routine screening for celiac disease in children with ASD. Further studies are warranted to evaluate association of Non Celiac Gluten Sensitivity with ASD and any role of gluten-free diet in such patients.Keywords: autism, celiac, gastrointestinal, gluten
Procedia PDF Downloads 120850 The Benefits of Full Day Kindergarten versus Half Day Kindergarten: Review of Literature
Authors: Majedah Fawzy Abu Alrub
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The purpose of this study was to assess the benefits of full-day vs. half-day kindergarten. Research suggests that there is a common trend among full-day kindergarten programs. Academic, social, and emotional benefits are evident, as well as preferential trends among the parents and teachers. The review began by identifying 20 references of literature on full-day kindergarten published in the last two decades (1997-2017). Of these, 20 passed an initial screening designed to identify research reports that examined academic, social, and emotional outcomes of full-day kindergarten programs as compared with half-day programs. Studies indicated that children who attend full-day kindergarten are positively related to high performance through their schools. There is much evidence to support a full-day program for children. Results indicated that full-day programs have obvious benefits for children; however, they may not be the best program for all children.Keywords: preschool, full-day kindergarten, academic benefits, social and emotional benefits
Procedia PDF Downloads 170849 Controlling Excitons Complexes in Two Dimensional MoS₂ Monolayers
Authors: Arslan Usman, Abdul Sattar, Hamid Latif, Afshan Ashfaq, Muhammad Rafique, Martin Koch
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Two-dimensional materials have promising applications in optoelectronic and photonics; MoS₂ is the pioneer 2D material in the family of transition metal dichalcogenides. Its optical, optoelectronic, and structural properties are of practical importance along with its exciton dynamics. Exciton, along with exciton complexes, plays a vital role in realizing quantum devices. MoS₂ monolayers were synthesized using chemical vapour deposition (CVD) technique on SiO₂ and hBN substrates. Photoluminescence spectroscopy (PL) was used to identify the monolayer, which also reflects the substrate based peak broadening due to screening effects. In-plane and out of plane characteristic vibrational modes E¹₂g and A₁g, respectively, were detected in a different configuration on the substrate. The B-excitons and trions showed a dominant feature at low temperatures due to electron-phonon coupling effects, whereas their energies are separated by 100 meV.Keywords: 2D materials, photoluminescence, AFM, excitons
Procedia PDF Downloads 144848 An Assessment of Suitable Alternative Public Transport System in Mid-Sized City of India
Authors: Sanjeev Sinha, Samir Saurav
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The rapid growth of urban areas in India has led to transportation challenges like traffic congestion and an increase in accidents. Despite efforts by state governments and local administrations to improve urban transport, the surge in private vehicles has worsened the situation. Patna, located in Bihar State, is an example of the trend of increasing reliance on private motor vehicles, resulting in vehicular congestion and emissions. The existing transportation infrastructure is inadequate to meet future travel demands, and there has been a notable increase in the share of private vehicles in the city. Additionally, there has been a surge in economic activities in the region, which has increased the demand for improved travel convenience and connectivity. To address these challenges, a study was conducted to assess the most suitable transit mode for the proposed transit corridor outlined in the Comprehensive Mobility Plan (CMP) for Patna. The study covered four stages: developing screening criteria, evaluating parameters for various alternatives, qualitative and quantitative evaluations of alternatives, and implementation options for the most viable alternative. The study suggests that a mass transit system such as a metro rail is necessary to enhance Patna's urban public transport system. The New Metro Policy 2017 outlines specific prerequisites for submitting a Metro Rail Project Proposal to the Ministry of Housing and Urban Affairs (MoHUA), including the preparation of a CMP, the formation of an Urban Metropolitan Transport Authority (UMTA), the creation of an Alternative Analysis Report, the development of a Detailed Project Report, a Multi-Modal Integration Plan, and a Transit-Oriented Development (TOD) Plan. In 2018, the Comprehensive Mobility Plan for Patna was prepared, setting the stage for the subsequent steps in the metro rail project proposal. The results indicated that from the screening and analysis of qualitative parameters for different alternative modes in Patna, it is inferred that the Metro Rail and Monorail score 82.25 and 70.50, respectively, on a scale of 100. Based on the initial analysis and alternative evaluation in the form of quantitative analysis, the Metro Rail System significantly outperformed the Monorail system. The Metro Rail System has a positive Economic Net Present Value (ENPV) at a 14% internal rate of return, while the Monorail has a negative value. In conclusion, the study recommends choosing metro rail over monorail for the proposed transit corridor in Patna. However, the lack of broad-based technical expertise may result in implementation delays and increased costs for monorail.Keywords: comprehensive mobility plan, alternative analysis, mobility corridors, mass transit system
Procedia PDF Downloads 119847 Predicting Susceptibility to Coronary Artery Disease using Single Nucleotide Polymorphisms with a Large-Scale Data Extraction from PubMed and Validation in an Asian Population Subset
Authors: K. H. Reeta, Bhavana Prasher, Mitali Mukerji, Dhwani Dholakia, Sangeeta Khanna, Archana Vats, Shivam Pandey, Sandeep Seth, Subir Kumar Maulik
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Introduction Research has demonstrated a connection between coronary artery disease (CAD) and genetics. We did a deep literature mining using both bioinformatics and manual efforts to identify the susceptible polymorphisms in coronary artery disease. Further, the study sought to validate these findings in an Asian population. Methodology In first phase, we used an automated pipeline which organizes and presents structured information on SNPs, Population and Diseases. The information was obtained by applying Natural Language Processing (NLP) techniques to approximately 28 million PubMed abstracts. To accomplish this, we utilized Python scripts to extract and curate disease-related data, filter out false positives, and categorize them into 24 hierarchical groups using named Entity Recognition (NER) algorithms. From the extensive research conducted, a total of 466 unique PubMed Identifiers (PMIDs) and 694 Single Nucleotide Polymorphisms (SNPs) related to coronary artery disease (CAD) were identified. To refine the selection process, a thorough manual examination of all the studies was carried out. Specifically, SNPs that demonstrated susceptibility to CAD and exhibited a positive Odds Ratio (OR) were selected, and a final pool of 324 SNPs was compiled. The next phase involved validating the identified SNPs in DNA samples of 96 CAD patients and 37 healthy controls from Indian population using Global Screening Array. ResultsThe results exhibited out of 324, only 108 SNPs were expressed, further 4 SNPs showed significant difference of minor allele frequency in cases and controls. These were rs187238 of IL-18 gene, rs731236 of VDR gene, rs11556218 of IL16 gene and rs5882 of CETP gene. Prior researches have reported association of these SNPs with various pathways like endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms, and reduction of HDL-cholesterol levels, ultimately leading to the development of CAD. Among these, only rs731236 had been studied in Indian population and that too in diabetes and vitamin D deficiency. For the first time, these SNPs were reported to be associated with CAD in Indian population. Conclusion: This pool of 324 SNP s is a unique kind of resource that can help to uncover risk associations in CAD. Here, we validated in Indian population. Further, validation in different populations may offer valuable insights and contribute to the development of a screening tool and may help in enabling the implementation of primary prevention strategies targeted at the vulnerable population.Keywords: coronary artery disease, single nucleotide polymorphism, susceptible SNP, bioinformatics
Procedia PDF Downloads 76846 Screening of Metal Chloride Anion-based Ionic Liquids for Direct Conversion of Hydrogen Sulfide by COSMO-RS
Authors: Muhammad Syahir Aminuddin, Zakaria Man, Mohamad Azmi Bustam Khalil
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In order to identify the best possible reaction media for performing H₂S conversion, a total number of 300 different ILs from a combination of 20 cations and 15 anions were screened via COSMO-RS model simulations. By COSMO-RS method, thermodynamic and physicochemical properties of 300 ILs, such as Henry's law constants, activity coefficient, selectivity, capacity, and performance index, are obtained and analyzed. Thus, by comparing the performance of ILs via COSMO-RS, a series of TSILs containing cation of [P66614] with metal chloride anions such as Fe, Ga, and Al were chosen and selected for synthesis based on their performance predicted by COSMO-RS and their economic values. Consequently, the physiochemical properties such as density, viscosity, thermal properties, as well as H₂S absorptive oxidation performances in those TSILs will be systematically investigated.Keywords: conversion of hydrogen sulfide, hydrogen sulfide, H₂S, sour natural gas, task specific ionic liquids
Procedia PDF Downloads 153845 Plants and Microorganisms for Phytoremediation of Soils Polluted with Organochlorine Pesticides
Authors: Maritsa Kurashvili, George Adamia, Tamar Ananiashvili, Lia Amiranasvili, Tamar Varazi, Marina Pruidze, Marlen Gordeziani, Gia Khatisashvili
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The goal of presented work is the development phytoremediation method targeted to cleaning environment polluted with organochlorine pesticides, based on joint application of plants and microorganisms. For this aim the selection of plants and microorganisms with corresponding capabilities towards three organochlorine pesticides (Lindane, DDT and PCP) has been carried out. The tolerance of plants to tested pesticides and induction degree of plant detoxification enzymes by these compounds have been used as main criteria for estimating the applicability of plants in proposed technology. Obtained results show that alfalfa, maize and soybean among tested six plant species have highest tolerance to pesticides. As a result of screening, more than 30 strains from genera Pseudomonas have been selected. As a result of GC analysis of incubation area, 11 active cultures for investigated pesticides are carefully chosen.Keywords: DDT, Lindane, organochlorine pesticides, PCP, phytoremediation
Procedia PDF Downloads 315844 Phytochemical and Antibacterial Activity of Chrysanthellum indicum (Linn) Extracts
Authors: I. L. Ibrahim, A. Mann, B. M. Abdullahi
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Infectious diseases are prevalent in developing countries and plant extracts are known to contained bioactive compounds that can be used in the management of these diseases. The entire plant of Chrysanthellum indicum (Linn) was air-dried and pulverized into fine powder and then percolated to give ethanol and aqueous extracts. These extracts were phytochemically screened for metabolites and evaluated antibacterial activity against some pathogenic organisms Klebsilla, pneumonia, Bacillus subtilis, and Pseudomonas aeruginosa using agar dilution method. It was found that crude extracts of C. indicum revealed the presence of saponins, tannins, alkaloids, steroidal nucleus, cardiac glycosides, and coumarin while flavonoids and anthraquinones were absent. The Minimum Inhibitory Concentration (MIC) and Minimum Bactericidal Concentration (MBC) of the active extract of C. indicum shows that the extract could be a potential source of antibacterial agents.Keywords: antibacterial activity, Chrysanthellum indicum, infectious diseases, phytochemical screening
Procedia PDF Downloads 525843 Cognitive Behaviour Hypnotherapy as an Effective Intervention for Nonsuicidal Self Injury Disorder
Authors: Halima Sadia Qureshi, Urooj Sadiq, Noshi Eram Zaman
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The goal of this study was to see how cognitive behavior hypnotherapy affected nonsuicidal self-injury. DSM 5 invites the researchers to explore the newly added condition under the chapter of conditions under further study named Nonsuicidal self-injury disorder. To date, no empirical sound intervention has been proven effective for NSSI as given in DSM 5. Nonsuicidal self-injury is defined by DSM 5 as harming one's self physically, without suicidal intention. Around 7.6% of teenagers are expected to fulfill the NSSI disorder criteria. 3 Adolescents, particularly university students, account for around 87 percent of self-harm studies. Furthermore, one of the risks associated with NSSI is an increased chance of suicide attempts, and in most cases, the cycle repeats again. 6 The emotional and psychological components of the illness might lead to suicide, either intentionally or unintentionally. 7 According to a research done at a Pakistani military hospital, over 80% of participants had no intention of committing suicide. Furthermore, it has been determined that improvements in NSSI prevention and intervention are necessary as a stand-alone strategy. The quasi-experimental study took place in Islamabad and Rawalpindi, Pakistan, from May 2019 to April 2020 and included students aged 18 to 25 years old from several institutions and colleges in the twin cities. According to the Diagnostic and Statistical Manual of Mental Disorders 5th edition, the individuals were assessed for >2 episodes without suicidal intent using the intentional self-harm questionnaire. The Clinician Administered Nonsuicidal Self-Injury Disorder Index (CANDI) was used to assess the individual for NSSI condition. Symptom checklist-90 (SCL-90) was used to screen the participants for differential diagnosis. Mclean Screening Instrument for Borderline Personality Disorder (MSI-BPD) was used to rule out the BPD cases. The selected participants, n=106 from the screening sample of 600, were selected. They were further screened to meet the inclusion and exclusion criteria, and the total of n=71 were split into two groups: intervention and control. The intervention group received cognitive behavior hypnotherapy for the next three months, whereas the control group received no treatment. After the period of three months, both the groups went through the post assessment, and after the three months’ period, follow-up assessment was conducted. The groups were evaluated, and SPSS 25 was used to analyse the data. The results showed that each of the two groups had 30 (50 percent) of the 60 participants. There were 41 males (68 percent) and 19 girls (32 percent) in all. The bulk of the participants were between the ages of 21 and 23. (48 percent). Self-harm events were reported by 48 (80 percent) of the pupils, and suicide ideation was found in 6 (ten percent). In terms of pre- and post-intervention values (d=4.90), post-intervention and follow-up assessment values (d=0.32), and pre-intervention and follow-up values (d=5.42), the study's effect size was good. The comparison of treatment and no-treatment groups revealed that treatment was more successful than no-treatment, F (1, 58) = 53.16, p.001. The results reveal that the treatment manual of CBH is effective for Nonsuicidal self-injury disorder.Keywords: NSSI, nonsuicidal self injury disorder, self-harm, self-injury, Cognitive behaviour hypnotherapy, CBH
Procedia PDF Downloads 182842 Modified Ninhydrin Reagent for the Detection of Amino Acids on TLC Paper
Authors: H. Elgubbi, A. Mlitan, A. Alzridy
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Ninhydrin is the most well known spray reagent for identification of amino acids. Spring with Ninhydrin as a non-specific reagent is well-known and widely used for its remarkable high sensitivity. Using Ninhydrin reagent alone to detect amino acid on thin layer chromatography (TLA) paper is not advisable due to its lower sensitivity. A new spray reagent, Stannus chloride solution (Sn CL2) has been used to detect amino acids on filtter paper (witman 14) and TLC paper, silica Gel, 60 F254 TLC Aluminium Sheet 20x20cm Merck- Germany. Also, modified TLC pre-staining method was used, which only consisted of 3 steps: spotting, separating and color. The improved method was rapid and inexpensive and the results obtained were clear and reliable. In addition, it is suitable for screening different amino acid.Keywords: amino acid, ninhydrin, modified ninhydrin reagent, stannus chloride reagent, thin-layer chromatography (TLC), TLC pre-staining
Procedia PDF Downloads 416841 Bacterial Diversity in Human Intestinal Microbiota and Correlations with Nutritional Behavior, Physiology, Xenobiotics Intake and Antimicrobial Resistance in Obese, Overweight and Eutrophic Individuals
Authors: Thais O. de Paula, Marjorie R. A. Sarmiento, Francis M. Borges, Alessandra B. Ferreira-Machado, Juliana A. Resende, Dioneia E. Cesar, Vania L. Silva, Claudio G. Diniz
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Obesity is currently a worldwide public health threat, being considered a pandemic multifactorial disease related to the human gut microbiota (GM). Add to that GM is considered an important reservoir of antimicrobial resistance genes (ARG) and little is known on GM and ARG in obesity, considering the altered physiology and xenobiotics intake. As regional and social behavior may play important roles in GM modulation, and most of the studies are based on small sample size and various methodological approaches resulting in difficulties for data comparisons, this study was focused on the investigation of GM bacterial diversity in obese (OB), overweight (OW) and eutrophic individuals (ET) considering their nutritional, clinical and social characteristics; and comparative screening of AGR related to their physiology and xenobiotics intake. Microbial community was accessed by FISH considering phyla as a taxonomic level, and PCR-DGGE followed by dendrograms evaluation (UPGMA method) from fecal metagenome of 72 volunteers classified according to their body mass index (BMI). Nutritional, clinical, social parameters and xenobiotics intake were recorded for correlation analysis. The fecal metagenome was also used as template for PCR targeting 59 different ARG. Overall, 62% of OB were hypertensive, and 12% or 4% were, regarding the OW and ET individuals. Most of the OB were rated as low income (80%). Lower relative bacterial densities were observed in the OB compared to ET for almost all studied taxa (p < 0.05) with Firmicutes/Bacteroidetes ratio increased in the OB group. OW individuals showed a bacterial density representative of GM more likely to the OB. All the participants were clustered in 3 different groups based on the PCR-DGGE fingerprint patterns (C1, C2, C3), being OB mostly grouped in C1 (83.3%) and ET mostly grouped in C3 (50%). The cluster C2 showed to be transitional. Among 27 ARG detected, a cluster of 17 was observed in all groups suggesting a common core. In general, ARG were observed mostly within OB individuals followed by OW and ET. The ratio between ARG and bacterial groups may suggest that AGR were more related to enterobacteria. Positive correlations were observed between ARG and BMI, calories and xenobiotics intake (especially use of sweeteners). As with nutritional and clinical characteristics, our data may suggest that GM of OW individuals behave in a heterogeneous pattern, occasionally more likely to the OB or to the ET. Regardless the regional and social behaviors of our population, the methodological approaches in this study were complementary and confirmatory. The imbalance of GM over the health-disease interface in obesity is a matter of fact, but its influence in host's physiology is still to be clearly elucidated to help understanding the multifactorial etiology of obesity. Although the results are in agreement with observations that GM is altered in obesity, the altered physiology in OB individuals seems to be also associated to the increased xenobiotics intake and may interfere with GM towards antimicrobial resistance, as observed by the fecal metagenome and ARG screening. Support: FAPEMIG, CNPQ, CAPES, PPGCBIO/UFJF.Keywords: antimicrobial resistance, bacterial diversity, gut microbiota, obesity
Procedia PDF Downloads 169840 Mapping Protein Selectivity Landscapes
Authors: Niv Papo
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Characterizing the binding selectivity landscape of interacting proteins is crucial both for elucidating the underlying mechanisms of their interaction and for developing selective inhibitors. However, current mapping methods are laborious and cannot provide a sufficiently comprehensive description of the landscape. Here, we introduce a distinct and efficient strategy for comprehensively mapping the binding landscape of proteins using a combination of experimental multi-target selective library screening and in silico next-generation sequencing analysis. We map the binding landscape of a non-selective trypsin inhibitor, the amyloid protein precursor inhibitor (APPI), to each of four human serine proteases (kallikrein-6, mesotrypsin, and anionic and cationic trypsins). We then use this map to dissect and improve the affinity and selectivity of APPI variants toward each of the four proteases. Our strategy can be used as a platform for the development of a new generation of target-selective probes and therapeutic agents based on selective protein–protein interactions.Keywords: drug design, directed evolution, protein engineering, protease inhibition.
Procedia PDF Downloads 24839 Giant Filiform Polyposis in a Patient with Ulcerative Colitis Mimicking Colorectal Cancer
Authors: Godwin Dennison, Edwin Cooper, George Theobald, Richard Dalton
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We report an unusual case of giant filiform polyposis in a patient with ulcerative colitis, causing a large stricture in the colon. A 62-year-old man was referred to the Bowel Cancer Screening Programme with a positive Faecal Immunochemical Test (FIT). He was known to have UC for 30 years. A CT scan showed a 9 cm stricture in the transverse colon suspicious of malignancy. A colonoscopy was attempted three times, and biopsies confirmed features of ulcerative colitis. A laparoscopic assisted transverse colectomy (Left hemicolectomy) was performed, and the histology revealed giant filiform polyposis. This should be considered in a UC patient presenting with signs of obstruction mimicking a carcinoma. Whilst it is a benign condition, because of the size of the lesion, it often causes obstruction, and surgery is indicated to relieve symptoms.Keywords: giant inflammatory polyposis, filiform polyposis, ulcerative colitis, inflammatory bowel disease
Procedia PDF Downloads 117838 The Importance of Development Evaluation to Preterm Children in Remote Area
Authors: Chung-Yuan Wang, Min Hsu, Bo-Ya Juan, Hsiv Ching Lin, Hsveh Min Lin, Hsiu-Fang Yeh
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The success of Taiwan's National Health Insurance (NHI) system attracts widespread praise from the international society. However, the availability of medical care in a emote area is limited. Without the convenient public transportation system and mature social welfare policy, these people are difficult to regain their health and prevent disability. Preterm children have more risk to get development delay. Preterm children in a remote area have the human right to get rehabilitation resources as those in the city area. Therefore, the aim of this study was to show the importance of development screening to preterm children in a remote area and a tract the government to notice the issue. In Pingtung, children who are suspected development delay would be suggested to take a skillful screening evaluation in our hospital. Those preterm children (within 1-year-old) visited our pediatric clinic would also be referred to take the development evaluation. After the physiatrist’s systemic evaluation, the subjects would be scheduled to take the development evaluation. Gross motor, fine motor, speech comprehension/expression and mental study were included. The evaluation was in-charged by a physical therapist, occupational therapy, speech therapist and pediatric psychologist. The tools were Peabody developmental scale, Bayley Scales of Infant and Toddler Development (Bayley-III) and Wechsler Preschool & Primary Scale of Intelligence-Revised (WPPSI-R). In 2013, 459 children received the service in our hospital. Among these children, fifty-seven were noted with preterm baby history (gestation within 37 weeks). Thirty-six of these preterm children, who had never receive development evaluation, were included in this study. Thirty-six subjects (twenty-six male and ten female) were included. Nineteen subjects were found development delay. Six subjects were found suspected development delay. In gross motor, six subjects were development delay and eight were suspected development delay. In fine motor, five subjects were development delay and three were suspected development delay. In speech, sixteen subjects were development delay and six were suspected development delay. In our study, through the provision of development evaluation service, 72.2% preterm baby were found their development delay or suspected delay. They need further early intervention rehabilitation service. We made their parents realize that when development delay was recognized at the early stage, they are often reversible. No only the patients but also their families were improved their health status. The number of the subjects was limited in our study. Further study might be needed. Compared with 770 physical therapist (PT) and 370 occupational therapy (OT) in Taipei, there are only 108 PT and 54 OT in Pingtung. Further, there are much fewer therapists working on the field of pediatric rehabilitation. Living healthy is a human's right, no matter where does he live. For those development delay children in remote area, particularly preterm children, early detection, and early intervention rehabilitation service could play an important role in decreasing their disability and improving their quality of life. Through this study, we suggest the government to add more national resources on the development evaluation to preterm children in a remote area.Keywords: development, early intervention, preterm children, rehabilitation
Procedia PDF Downloads 438837 A System to Detect Inappropriate Messages in Online Social Networks
Authors: Shivani Singh, Shantanu Nakhare, Kalyani Nair, Rohan Shetty
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As social networking is growing at a rapid pace today it is vital that we work on improving its management. Research has shown that the content present in online social networks may have significant influence on impressionable minds. If such platforms are misused, it will lead to negative consequences. Detecting insults or inappropriate messages continues to be one of the most challenging aspects of Online Social Networks (OSNs) today. We address this problem through a Machine Learning Based Soft Text Classifier approach using Support Vector Machine algorithm. The proposed system acts as a screening mechanism the alerts the user about such messages. The messages are classified according to their subject matter and each comment is labeled for the presence of profanity and insults.Keywords: machine learning, online social networks, soft text classifier, support vector machine
Procedia PDF Downloads 508836 Screening of Nickel-Tolerant Genotype of Mung Bean (Vigna radiata) Based on Photosynthesis and Antioxidant System
Authors: Mohammad Yusuf, Qazi Fariduddin
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The main aim of this study was to explore the different cultivars of Vigna radiata on basis of photosynthesis, antioxidants and proline to assess Ni-sensitive and Ni-tolerant cultivar. Seeds of five different cultivars were sown in soil amended with different levels of Ni (0, 50, 100, or 150 mg kg 1). At 30 d stage, plants were harvested to assess the various parameters. The Ni treatment diminished growth, leaf water potential, chlorophyll content and net photosynthesis along with nitrate reductase and carbonic anhydrase activities in the concentration dependent manner whereas, it enhanced proline content and various antioxidant enzymes. The varieties T-44 found least affected, whereas PDM-139 experienced maximum damage at 150 mg kg-1 of Ni. Moreover, T-44 possessed maximum activity of antioxidant enzymes and proline content at all the levels of metal whereas PDM-139 possessed minimum values. Therefore, T-44 and PDM-139 were established as the most resistant and sensitive varieties, respectively.Keywords: Vigna radiata, antioxidants, nickel, photosynthesis, proline
Procedia PDF Downloads 223835 Seroprevalence of Cytomegalovirus among Pregnant Women in Islamabad, Pakistan
Authors: Hassan Waseem
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Cytomegalovirus (CMV) is ubiquitously distributed viral agent responsible for different clinical manifestations that may vary according to the immunologic status of the patient. CMV can cause morbidity and mortality among fetuses and patients with compromised immune system. A cross-sectional study was carried out in Islamabad to investigate the prevalence and risk factors associated with CMV infection among pregnant women. Blood samples of 172 pregnant women visiting Mother and Child Healthcare, Pakistan Institute of Medical Sciences (PIMS) Islamabad were taken. In present study, serum samples of the women were checked for CMV-specific IgG and IgM antibodies by enzyme linked immunosorbent assay (ELISA). Clinical, obstetrical and socio-demographical characteristics of the women were collected by using structured questionnaires. Out of 172 pregnant women included in the study, 171 (99.4%) were CMV specific IgG positive and 30 (17.4%) were found positive for CMV-IgM antibodies. The CMV has taken an endemic form in Pakistan so, routine screening of CMV among pregnant women is recommended.Keywords: Cytomegalovirus, blood transfusion, ELISA, seroprevalence
Procedia PDF Downloads 365834 Studying the Function of Green Belt around the Metropolises
Authors: Soroush Mokallaei
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Since ancient times, urbanization engineers have always thought of creating green spaces along with urbanization. Athens and Rome have attempted to construct public gardens around streets and palaces. Since then developing green space has become a part of urban civilization. In medieval ages, all Western cities had palaces and houses with internal gardens. In different sources green belt is defined as a green band of trees and bushes around the cities which has multiple functions. It is said that green belts are not only around the mountains, cities, and rivers but also around houses, subways, and highways. Constructing green belt around cities has different advantages such as: protecting cities against pollution, purifying air, screening dust, being a place for recreation, buffer zone of city internal lands, confronting the phenomenon of heat island, increasing agricultural products, helping to prevent illegal city development, confronting deforestation, preventing flood and increasing subterranean water resources.Keywords: environment, garden cities, green belt, metropolises
Procedia PDF Downloads 328833 Detection, Analysis and Determination of the Origin of Copy Number Variants (CNVs) in Intellectual Disability/Developmental Delay (ID/DD) Patients and Autistic Spectrum Disorders (ASD) Patients by Molecular and Cytogenetic Methods
Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka
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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification
Procedia PDF Downloads 349