Search results for: mutation screening

Authors: Shenaz Ahmed, Hussain Jafri, Muhammed Faran, Wajeeha Naseer Ahmed, Yasmin Rashid, Yasmin Ehsan, Shabnam Bashir, Mushtaq Ahmed

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Low uptake of cascade screening for βeta-Thalassaemia Major (β-TM) in the ‘Punjab Thalassaemia Prevention Project’ (PTPP) in Pakistan led to the development of a ‘decision support intervention for relatives’ (DeSIRe). This paper presents the experiences of relatives of children with β-TM of the DeSIRe following its use by PTPP field officers in routine clinical practice. Fifty-four semi-structured qualitative interviews were conducted (April to June 2021) with relatives in seven cities in the Punjab province (Lahore, Sheikhupura, Nankana Sahab, Kasur, Gujranwala, Multan, and Faisalabad). Thematic analysis shows that participants were satisfied with the content of the DeSIRe and its delivery by the field officers in a family meeting. They understood the main purpose of the DeSIRe was to improve their knowledge of β-TM and its inheritance, to enable them to make decisions about thalassemia carrier testing, particularly before marriage. While participants raised concerns about the stigma of testing positive, they believed the DeSIRe was an appropriate intervention, which supported relatives to make informed decisions. Our findings show the DeSIRe is appropriate for use by healthcare professionals in routine practice in a low-middle income country and has the potential to facilitate shared decision-making about cascade screening for thalassemia. Further research is needed to prove the efficacy of the DeSIRe.

Keywords: thalassemia, Pakistan, cascade screening, decision support

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Authors: Boumesbah Asma, Chergui Mohamed El-amine

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Since it has been shown that the multi-objective minimum spanning tree problem (MOST) is NP-hard even with two criteria, we propose in this study a hybrid NSGA-II algorithm with an exact mutation operator, which is only used with low probability, to find an approximation to the Pareto front of the problem. In a connected graph G, a spanning tree T of G being a connected and cycle-free graph, if k edges of G\T are added to T, we obtain a partial graph H of G inducing a reduced size multi-objective spanning tree problem compared to the initial one. With a weak probability for the mutation operator, an exact method for solving the reduced MOST problem considering the graph H is then used to give birth to several mutated solutions from a spanning tree T. Then, the selection operator of NSGA-II is activated to obtain the Pareto front approximation. Finally, an adaptation of the VNS metaheuristic is called for further improvements on this front. It allows finding good individuals to counterbalance the diversification and the intensification during the optimization search process. Experimental comparison studies with an exact method show promising results and indicate that the proposed algorithm is efficient.

Keywords: minimum spanning tree, multiple objective linear optimization, combinatorial optimization, non-sorting genetic algorithm, variable neighborhood search

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Authors: Kaoutar Ben Azzou, Hanaa Talei

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Human resources is an important department in each organization as it manages the life cycle of employees from recruitment training to retirement or termination of contracts. The recruitment process starts with a job opening, followed by a selection of the best-fit candidates from all applicants. Matching the best profile for a job position requires a manual way of looking at many CVs, which requires hours of work that can sometimes lead to choosing not the best profile. The work presented in this paper aims at reducing the workload of HR personnel by automating the preliminary stages of the candidate screening process, thereby fostering a more streamlined recruitment workflow. This tool introduces an automated system designed to help with the recruitment process by scanning candidates' CVs, extracting pertinent features, and employing machine learning algorithms to decide the most fitting job profile for each candidate. Our work employs natural language processing (NLP) techniques to identify and extract key features from unstructured text extracted from a CV, such as education, work experience, and skills. Subsequently, the system utilizes these features to match candidates with job profiles, leveraging the power of classification algorithms.

Keywords: automated recruitment, candidate screening, machine learning, human resources management

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Chi V. Phan, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le

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Wilson’s disease is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper- transporting P-type ATPase (ATP7B). The mechanism of this disease is a failure of hepatic excretion of copper to the bile, and it leads to copper deposits in the liver and other organs. Most clinical symptoms of Wilson’s disease can present as liver disease and/or neurologic disease. Objective: The goal of the study is prenatal diagnosis for pregnant women at high risk of Wilson’s disease in Northern Vietnam. Material and method: Three probands with clinically diagnosed liver disease were detected in the mutations of 21 exons and exon-intron boundaries of the ATP7B gene by direct Sanger-sequencing. Prenatal diagnoses were performed by amniotic fluid sampling from pregnant women in the 16th-18th weeks of pregnancy after the genotypes of parents with the probands were identified. Result: A total of three different mutations of the probands, including of S105*, P1052L, P1273G, were detected. Among three fetuses which underwent prenatal genetic testing, one fetus was homozygote; two fetuses were carriers. Conclusion: Genetic testing provided a useful method for prenatal diagnosis, and is a basis for genetic counseling.

Keywords: ATP7B gene, genetic testing, prenatal diagnosis, pedigree, Wilson disease

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Authors: Jaci Marie Mastrandrea, Rosario Haro

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Background: The National Comprehensive Cancer Network (NCCN) recommends that healthcare institutions have established processes for integrating palliative care (PC) into cancer treatment and that all cancer patients be screened for PC needs upon initial diagnosis as well as throughout the entire continuum of care (National Comprehensive Cancer Network, 2021). Early PC screening and intervention is directly associated with improved patient outcomes. The Sky Lakes Cancer Treatment Center (SLCTC) is an institution that has access to PC services yet does not have protocols in place for identifying patients with palliative needs or a standardized referral process. The aim of this quality improvement project was to improve early access to PC services by establishing a standardized screening and referral process for outpatient oncology patients. Method: The sample population included all adult patients with an oncology diagnosis who presented to the SLCTC for treatment during the project timeline. The “Palliative and Supportive Needs Assessment'' (PSNA) screening tool was developed from validated, evidence-based PC referral criteria. The tool was initially implemented using paper forms, and data was collected over a period of eight weeks. Patients were screened by nurses on the SLCTC oncology treatment team. Nurses responsible for screening patients received an educational inservice prior to implementation. Patients with a PSNA score of three or higher received an educational handout on the topic of PC and education about PC and symptom management. A score of five or higher indicates that PC referral is strongly recommended, and the patient’s EHR is flagged for the oncology provider to review orders for PC referral. The PSNA tool was approved by Sky Lakes administration for full integration into Epic-Beacon. The project lead collaborated with the Sky Lakes’ information systems team and representatives from Epic on the tool’s aesthetic and functionality within the Epic system. SLCTC nurses and physicians were educated on how to document the PSNA within Epic and where to view results. Results: Prior to the implementation of the PSNA screening tool, the SLCTC had zero referrals to PC in the past year, excluding referrals to hospice. Data was collected from the completed screening assessments of 100 patients under active treatment at the SLCTC. Seventy-three percent of patients met criteria for PC referral with a score greater than or equal to three. Of those patients who met referral criteria, 53.4% (39 patients) were referred for a palliative and supportive care consultation. Patients that were not referred to PC upon meeting criteria were flagged in EPIC for re-screening within one to three months. Patients with lung cancer, chronic hematologic malignancies, breast cancer, and gastrointestinal malignancy most frequently met the criteria for PC referral and scored highest overall on the scale of 0-12. Conclusion: The implementation of a standardized PC screening tool at the SLCTC significantly increased awareness of PC needs among cancer patients in the outpatient setting. Additionally, data derived from this quality improvement project supports the national recommendation for PC to be an integral component of cancer treatment across the entire continuum of care.

Keywords: oncology, palliative and supportive care, symptom management, outpatient oncology, palliative screening tool

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Authors: Mohammad Jalali Varnamkhasti

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The genetic algorithms have been very successful in handling difficult optimization problems. The fundamental problem in genetic algorithms is premature convergence. This paper, present a new fuzzy genetic algorithm based on chaotic values instead of the random values in genetic algorithm processes. In this algorithm, for initial population is used chaotic sequences and then a new sexual selection proposed for selection mechanism. In this technique, the population is divided such that the male and female would be selected in an alternate way. The layout of the male and female chromosomes in each generation is different. A female chromosome is selected by tournament selection size from the female group. Then, the male chromosome is selected, in order of preference based on the maximum Hamming distance between the male chromosome and the female chromosome or The highest fitness value of male chromosome (if more than one male chromosome is having the maximum Hamming distance existed), or Random selection. The selections of crossover and mutation operators are achieved by running the fuzzy logic controllers, the crossover and mutation probabilities are varied on the basis of the phenotype and genotype characteristics of the chromosome population. Computational experiments are conducted on the proposed techniques and the results are compared with some other operators, heuristic and local search algorithms commonly used for solving p-median problems published in the literature.

Keywords: genetic algorithm, fuzzy system, chaos, sexual selection

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Authors: Yunzi Chen, James Laybourne, Sarah Steven, Peter Carey, David Steel, Maria Sandinha

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Introduction: Bariatric surgery is popular with the rising incidence of obesity. Its well-known benefits include significant and rapid glycaemic control. However, cases of paradoxical worsening in diabetic retinopathy (DR) despite improved glycaemic control have been reported. Purpose: clarification on the evolution of diabetic retinopathy after bariatric surgery. Method: retrospective study of 40 patients with Type 2 diabetes who underwent bariatric surgery in a UK specialist bariatric unit between 2009 and 2011. Pre-operative and post-operative visual acuity (VA), weight, HbA1c and annual DRSS screening results were analysed. Median follow up was 50 months. Results: No significant change in VA was found during the post-operative period. 85% of patients improved HbA1c post-operatively of which 53% achieved non-diabetic HbA1c of <6.1% - despite this, 2 patients developed new DR. First post-operative screening showed 80% of patients experienced no change, 8% improved but 13% of patients developed new DR (1 case with sight-threatening maculopathy). 80% of these cases persisted up to 24 months. The proportion of patients developing new or worse DR fluctuated over time, peaking at the 3rd annual screening with 26% (15% regressed, 56% stable). The probability of developing new or worse DR postoperatively was significantly associated with a high pre-operative HbA1c (>8%) and male gender. Conclusions: bariatric surgery does not guarantee long-term improvement or prevention of DR. Asymptomatic changes in DR occurred up to 5 years postoperatively. We therefore consider it prudent to continue screening in this cohort of patients.

Keywords: bariatric surgery, diabetic retinopathy, obesity, type 2 diabetes mellitus

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Authors: Valentina Milanova, Kalina Mihaylova, Iva Lazarova

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The mechanisms by which female genital infections are detected are varied and include clinician-collected high vaginal swabs, clinician-collected endocervical swabs, patient-collected vaginal swabs, and first-pass urine samples. Vaginal health screening has chronically low rates of uptake. This highlights the unmet need for a screening tool with comparable diagnostic accuracy which is familiar, convenient and easy to use for people. The Daye™ medical grade tampon offers an alternative to traditional sampling methods with the potential of increasing screening uptake among people previously too embarrassed or busy to attend gynecological appointments. In this white paper, the results of stability studies and a comparative clinical trial are discussed to assess the suitability of the device for the collection of vaginal samples for various clinical assessments. The tampon has demonstrated good sample stability and comparable sample quality compared to a self-collected vaginal swab and a clinician-collected cervical swab.

Keywords: vaginal microbiome, vaginal infections, gynaecological infections, female health, menstrual tampons, in vitro diagnostics

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Authors: Natalia Koltovaya, Nadezhda Zhuchkina, Ksenia Lyubimova

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We study the biological effects induced by ionizing radiation in view of therapeutic exposure and the idea of space flights beyond Earth's magnetosphere. In particular, we examine the differences between base pair substitution induction by ionizing radiation in model haploid and diploid yeast Saccharomyces cerevisiae cells. Such mutations are difficult to study in higher eukaryotic systems. In our research, we have used a collection of six isogenic trp5-strains and 14 isogenic haploid and diploid cyc1-strains that are specific markers of all possible base-pair substitutions. These strains differ from each other only in single base substitutions within codon-50 of the trp5 gene or codon-22 of the cyc1 gene. Different mutation spectra for two different haploid genetic trp5- and cyc1-assays and different mutation spectra for the same genetic cyc1-system in cells with different ploidy — haploid and diploid — have been obtained. It was linear function for dose-dependence in haploid and exponential in diploid cells. We suggest that the differences between haploid yeast strains reflect the dependence on the sequence context, while the differences between haploid and diploid strains reflect the different molecular mechanisms of mutations.

Keywords: base pair substitutions, γ-rays, haploid and diploid cells, yeast Saccharomyces cerevisiae

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Authors: Hui-Chen Tsai, Chien-Jen Ho, Bo-Wei Power Liang, Ying Shen, Yi-Hsin Lai

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Former Taiwan Metal Mining Corporation and its associated 3 wasted flue gas tunnels, hereinafter referred to as 'TMMC', was contaminated with heavy metals, Polychlorinated biphenyls (PCBs) and Total Petroleum Hydrocarbons (TPHs) in soil. Since the contamination had been exposed and unmanaged in the environment for more than 40 years, the extent of the contamination area is estimated to be more than 25 acres. Additionally, TMMC is located in a remote, mountainous area where almost no residents are residing in the 1-km radius area. Thus, it was deemed necessary to conduct an ecological risk assessment in order to evaluate the details of future contaminated site management plan. According to the winter and summer, ecological investigation results, one type of endangered, multiple vulnerable and near threaten plant was discovered, as well as numerous other protected species, such as Crested Serpent Eagle, Crested Goshawk, Black Kite, Brown Shrike, Taiwan Blue Magpie were observed. Ecological soil screening level (Eco-SSLs) developed by USEPA was adopted as a reference to conduct screening assessment. Since all the protected species observed surrounding TMMC site were birds, screening ecological risk assessment was conducted on birds only. The assessment was assessed mainly based on the chemical evaluation, which the contamination in different environmental media was compared directly with the ecological impact levels (EIL) of each evaluation endpoints and the respective hazard quotient (HQ) and hazard index (HI) could be obtained. The preliminary ecological risk assessment results indicated HI is greater than 1. In other words, the biological stressors (birds) were exposed to the contamination, which was already exceeded the dosage that could cause unacceptable impacts to the ecological system. This result was mainly due to the high concentration of arsenic, metal and lead; thus it was suggested the above mention contaminants should be remediated as soon as possible or proper risk management measures should be taken.

Keywords: screening, ecological risk assessment, ecological impact levels, risk management

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Authors: Yessengali Ussenbekov, Valery Terletskiy, Orik Zhanserkenova, Shynar Kasymbekova, Indira Beyshova, Aitkali Imanbayev, Almas Serikov

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Currently, there are 46 hereditary diseases afflicting cattle with known molecular genetic diagnostic methods developed for them. Genetic anomalies frequently occur in the Holstein cattle breeds from American and Canadian bloodlines. The data on the incidence of BLAD, CVM, DUMPS and BC autosomal recessive lethal mutations in pedigree animals are discordant, the detrimental allele incidence rates are high for the Holstein cattle breed, whereas the incidence rates of these mutations are low in some breeds or they are completely absent. Data were obtained on the basis of frozen semen of stud bulls. DNA was extracted from the semen with the DNA-Sorb-B extraction kit. The lethal mutation in the genes CD18, SLC35A3, UMP and ASS of Alatau stud bulls (N=124) was detected by polymerase chain reaction and RFLP analysis. It was established that stud bulls of the local Alatau breed were not carriers of the BLAD, CVM, DUMPS, and BC detrimental mutations. However, with a view to preventing the dissemination of hereditary diseases it is recommended to monitor the pedigree stock using molecular genetic methods.

Keywords: PCR, autosomal recessive point mutation, BLAD, CVM, DUMPS, BC, stud bulls

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Authors: M. Dezvarei, S. Morovati

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In recent years, increasing usage of electrical energy provides a widespread field for investigating new methods to produce clean electricity with high reliability and cost management. Fuel cells are new clean generations to make electricity and thermal energy together with high performance and no environmental pollution. According to the expansion of fuel cell usage in different industrial networks, the identification and optimization of its parameters is really significant. This paper presents optimization of a proton exchange membrane fuel cell (PEMFC) parameters based on modified particle swarm optimization with real valued mutation (RVM) and clonal algorithms. Mathematical equations of this type of fuel cell are presented as the main model structure in the optimization process. Optimized parameters based on clonal and RVM algorithms are compared with the desired values in the presence and absence of measurement noise. This paper shows that these methods can improve the performance of traditional optimization methods. Simulation results are employed to analyze and compare the performance of these methodologies in order to optimize the proton exchange membrane fuel cell parameters.

Keywords: clonal algorithm, proton exchange membrane fuel cell (PEMFC), particle swarm optimization (PSO), real-valued mutation (RVM)

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Authors: Atitallah Sofien, Bouyahia Olfa, Attar Souleima, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

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Introduction: Ciliopathies are a spectrum of diseases that have in common a defect in the synthesis of ciliary proteins. It is a rare cause of neonatal cholestasis. Clinical presentation varies extremely, and the main affected organs are the kidneys, liver, and pancreas. Methodology: This is a descriptive case report of a newborn who was admitted for exploration of neonatal cholestasis in the Paediatric Department C at the Children’s Hospital of Tunis, where the investigations concluded with a rare genetic mutation. Results: This is the case of a newborn male with no family history of hepatic and renal diseases, born to consanguineous parents, and from a well-monitored uneventful pregnancy. He developed jaundice on the second day of life, for which he received conventional phototherapy in the neonatal intensive care unit. He was admitted at 15 days for mild bronchiolitis. On clinical examination, intense jaundice was noted with normal stool and urine colour. Initial blood work showed an elevation in conjugated bilirubin and a high gamma-glutamyl transferase level. Transaminases and prothrombin time were normal. Abdominal sonography revealed hepatomegaly, splenomegaly, and undifferentiated renal cortex with bilateral medullar micro-cysts. Kidney function tests were normal. The infant received ursodeoxycholic acid and vitamin therapy. Genetic testing showed a homozygous mutation in the DCDC2 gene that hadn’t been documented before confirming the diagnosis of renal-hepatic ciliopathy. The patient has regular follow-ups, and his conjugated bilirubin and gamma-glutamyl transferase levels have been decreasing. Conclusion: Genetic testing has revolutionized the approach to etiological diagnosis in pediatric cholestasis. It enables personalised treatment strategies to better enhance the quality of life of patients and prevent potential complications following adequate long-term monitoring.

Keywords: cholestasis, newborn, ciliopathy, DCDC2, genetic

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Authors: Jumanah S. Alawfi

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Polycystic ovary syndrome (PCOS) is a common endocrinopathy among females in their reproductive years. The incidence cases are nearly 1.55 million among females across the globe, with 0.43 million associated disability-adjusted life-years (DALYs). This syndrome is associated with intricate mechanisms typically characterized by insulin resistance (IR), infertility, overweight and/or obesity. Lifestyle interventions are often prescribed as an adjective treatment. Nonetheless, obesity is a complex disease that encompasses multiple dimensions, such as excessive energy intake and genetics. The melanocortin 4 receptor mutation (MC4R) is an important mediator in appetite. There is emerging evidence that suggests its role in the Body Mass Index (BMI) among PCOS subjects, which poses the question of obesity and/or overweight among the PCOS patients who carry the MC4R variants may be caused by overconsumption. Thereby, using other satiety techniques may be beneficial as a part of personalized nutrition. Therefore, the aim of the current mini-review is to discuss the effect of the vegan low glycemic diet on reducing appetite among PCOS patients. The review shows that there is a gap in the knowledge of the effect of the vegan diet on PCOS patients who carry MC4R variants which need further research.

Keywords: polycystic ovarian syndrome (PCOS), Appetite, Melanocortin 4 Receptor Mutation (MC4R)., Obesity

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Authors: Fatma Acheuk, Akila Hamichi, Siham Semmar

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The crude ethanolic extract from Solenostemma argel was obtained by maceration of leaves and stems of the plant. Phytochimical study revealed the richness of the species on flavonoids, alkaloids, tannins and glycosides. Antimicrobial activity of the growth of clinical isolates of Eschirichia coli, Pseudomonas aeriginosa, Staphylococus aureus and Bacillus Subtilis was carried out using agar disc diffusion. The results of the study revealed that the test compound has antimicrobial activity against gram-positive bacteria which are resistant to commonly antimicrobial agents used. However, no effect was observed on other species tested.

Keywords: Solenostemma argel, crude extract, phytochemical screening, antimicrobial activity

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Authors: Akram Sadat Jafari Roodbandi, Alireza Choobineh, Nazanin Hosseini, Vafa Feyzi

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Introduction: Physical fitness and optimum functional movement are essential for efficiently performing job tasks without fatigue and injury. Functional Movement Screening (FMS) tests are used in screening of athletes and military forces. Nurses and emergency medical staff are obliged to perform many physical activities such as transporting patients, CPR operations, etc. due to the nature of their jobs. This study aimed to assess relationship between FMS test score and the prevalence of musculoskeletal disorders (MSDs) in emergency nurses and emergency medical services (EMS) staff. Methods: 134 male and female emergency nurses and EMS technicians participated in this cross-sectional, descriptive-analytical study. After video tutorial and practical training of how to do FMS test, the participants carried out the test while they were wearing comfortable clothes. The final score of the FMS test ranges from 0 to 21. The score of 14 is considered weak in the functional movement base on FMS test protocol. In addition to the demographic data questionnaire, the Nordic musculoskeletal questionnaire was also completed for each participant. SPSS software was used for statistical analysis with a significance level of 0.05. Results: Totally, 49.3% (n=66) of the subjects were female. The mean age and work experience of the subjects were 35.3 ± 8.7 and 11.4 ± 7.7, respectively. The highest prevalence of MSDs was observed at the knee and lower back with 32.8% (n=44) and 23.1% (n=31), respectively. 26 (19.4%) health worker had FMS test score of 14 and less. The results of the Spearman correlation test showed that the FMS test score was significantly associated with MSDs (r=-0.419, p < 0.0001). It meant that MSDs increased with the decrease of the FMS test score. Age, sex, and MSDs were the remaining significant factors in linear regression logistic model with dependent variable of FMS test score. Conclusion: FMS test seems to be a usable screening tool in pre-employment and periodic medical tests for occupations that require physical fitness and optimum functional movements.

Keywords: functional movement, musculoskeletal disorders, health care worker, screening test

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Authors: Ibrahim Isah Lakan, Nasiru Ibrahim

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These Phytochemical screening, Antimicrobial activities and mineral Determination of aqueous extract of Stachtarpheta indica were assessed. The result reveals the presence of flavonoids, tannins, saponins, alkaloids, glycosides and anthraquinones. The disc diffusion of aqueous extract showed Escherichia coli, 13 and antibiotic, 19 mm; Bacillus subtilis, 10 and anti –biotic, 17 mm; Klebsiller pnemuoniae , 14 and antibiotic, 24mm and Pseudmonas aeruginosa, 24 and antibiotic, 36 mm which are all comparable with the standard antibiotic cyprotomycin. The mineral content determination by flame photometer revealed that 1.25 (Na+), 0.85 (K +), 1.75 (Ca 2+) % which is a clear indication of the safety of the extract for the hypertensive patients and could be used to lower blood pressure.

Keywords: microbials, mineral, phytochemicals, stachtarpheta indica extracts

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Authors: Azza T. Tahera, Eman M. Ahmeda, Nadia A. Khalila, Yassin M. Nissanb

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New 3-(pyridin-4-yl)-[1,2,4] triazolo [4,3-b] pyridazine derivatives 2a-i, 4a,b and 6a,b were designed, synthesized and evaluated as cytotoxic agents. All compounds were investigated for their in vitro cytotoxicity at a single dose 10-5M concentration towards 60 cancer cell lines according to USA NCI protocol. The preliminary screening results showed that the majority of tested compounds exhibited remarkable activity against SR (leukemia) cell panel. Molecular docking for all synthesized compounds was performed on the active site of c-Met kinase. The most active compounds, 2f and 4a were further evaluated at a seven dose level screening and their IC50 as a c-Met kinase inhibitors were determined in vitro.

Keywords: triazolopyridazines, pyridazines, cytotoxic activity, cell panel

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Authors: Gagan Dhawan

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Mycobacterium tuberculosis was described as ‘captain of death’ with an inherent property of multiple drug resistance majorly caused by the competent mechanism of efflux pumps. In this study, various open source tools combining chemo-informatics with bioinformatics were used for efficient in-silico drug designing. The efflux pump, Rv1218c, belonging to the ABC transporter superfamily, which is predicted to be a tetronasin-transporter in M. tuberculosis was targeted. Recent studies have shown that Rv1218c forms a complex with two more efflux pumps (Rv1219c and Rv1217c) to provide multidrug resistance to the bacterium. The 3D structure of the protein was modeled (as the structure was unavailable in the previously collected databases on this gene). The TMHMM analysis of this protein in TubercuList has shown that this protein is present in the outer membrane of the bacterium. Virtual screening of compounds from various publically available chemical libraries was performed on the M. tuberculosis protein using various open source tools. These ligands were further assessed where various physicochemical properties were evaluated and analyzed. On comparison of different physicochemical properties, toxicity and docking, the ligand 2-(hydroxymethyl)-6-[4, 5, 6-trihydroxy-2-(hydroxymethyl) tetrahydropyran-3-yl] oxy-tetrahydropyran-3, 4, 5-triol was found to be best suited for further studies.

Keywords: drug resistance, efflux pump, molecular docking, virtual screening

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Authors: Arundhati Devi Maibam, K. Ingocha Singh

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Cervical cancer is preventable if detected early. Determination of risk factors is essential to plan screening programmes to prevent the disease. To study the demographic risk factors of cervical cancer among Manipuri women, information on age, marital status, educational level, monthly family income and socioeconomic status were collected through a pre-tested interview schedule. In this study, 64 incident cases registered at the RT Dept, RIMS (Regional Institute of Medical Sciences), Imphal, Manipur, India during 2008-09 participated. Data were entered in Microsoft Excel and the results were expressed in percentages. Among the 64 patients with cervical cancer, 56 (88.9%) were in the age group of 40+ years. The majority of the patients were from rural areas (68.75%) and 31.25% were from urban areas. The majority of the patients were Hindus (73%), 55(85.9%) were of low educational level, 43(67.2%) were married, and 36 (56.25%) belonged to Class IV socioeconomic status. In conclusion, if detected early, cervical cancer is preventable and curable. The potential risk factors need to be identified and women in the risk group need to be motivated for screening. Affordable screening programmes and health care resources will help in lessening the burden of the disease.

Keywords: cervical cancer, Manipuri women, RIIMS, socio-demographic risk factors

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Authors: Noora Al Muftah, Reda Rawi, Richard Thompson, Halima Bensmail

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Clinical responses to anticancer therapies are often restricted to a subset of patients. In some cases, mutated cancer genes are potent biomarkers of response to targeted agents. There is an urgent need to identify biomarkers that predict which patients with are most likely to respond to treatment. Systematic efforts to correlate tumor mutational data with biologic dependencies may facilitate the translation of somatic mutation catalogs into meaningful biomarkers for patient stratification. To identify genomic features associated with drug sensitivity and uncover new biomarkers of sensitivity and resistance to cancer therapeutics, we have screened and integrated a panel of several hundred cancer cell lines from different databases, mutation, DNA copy number, and gene expression data for hundreds of cell lines with their responses to targeted and cytotoxic therapies with drugs under clinical and preclinical investigation. We found mutated cancer genes were associated with cellular response to most currently available Glioma cancer drugs and some frequently mutated genes were associated with sensitivity to a broad range of therapeutic agents. By linking drug activity to the functional complexity of cancer genomes, systematic pharmacogenomic profiling in cancer cell lines provides a powerful biomarker discovery platform to guide rational cancer therapeutic strategies.

Keywords: cancer, gene network, Lasso, penalized regression, P-values, unbiased estimator

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Authors: Mai Ali

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Background: Preparing Hypo-screen-bags in advance streamlines the time-consuming process of administering glucose systemic correction. Additionally, Hypo-Screen Grab Bags are widely adopted in UK hospitals. Aim: The aim of the study is to improve hypoglycemia screening efficiency and equipment accessibility by streamlining item access to grab bag restocking staff. Methodology: The study centered on neonatal wards at LGI & St. James Neonatal Unit and related units. A web-based survey was conducted to evaluate local practices, gathering 21 responses from relevant general staff. The survey outcomes: (1) The demand for accessible grab bags is evident for smoother processes. (2) The potential to enhance efficiency through improved preparation of hypo-screen grab bags. Intervention: A Hypo-Screen Grab Bag was designed, including checklists for stocked items and required samples. Medical staff oversee restocking after use. Conclusion: The study successfully improved hypoglycemia screening efficiency and aided junior staff with accessible supplies and a user-friendly checklist.

Keywords: neonatal hypoglycemia, grab bag, hypo-screening, junior staff

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Authors: I. L. Ibrahim, A. Mann, A. Ndanaimi

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The research involved phytochemical screening, antibacterial activities and mineral determination by flame photometry of the crude extract of Brysocarpus coccineus schum indeed were carried out. The result of Phytochemical screening reveal tha saponins, alkaloids, cardiac glycosides, and anthraquinones were present. This suggests that the plant extract could be used as anti-inflammatory and anti-bleeding agents. Estimation of mineral content shows that the crude extract of B. coccineus contains 0.73 (Na+), 1.06 (K+) and 1.98 (Ca+) which justifies its use to be safe for hypertensive patients and could be used to lower blood pressure. The antibacterial properties of aqueous and ethanol extract were studied against some bacteria; pseudomonas aeruginosa, Escherichia coli, Bacilus subtilis, Klebsilla penmuoniae by disc diffusion method. The aqueous extract showed significant activity against the organisms while the ethanol at concentrations 5-10mg/ml ethanol extract showed significant zone of inhibition against the organisms, E. coli, (19 mm), B. cereus (12 mm), P. aeruginosa (11 mm), K. pnemuoniae (11 mm). Minimum inhibitory concentration (MIC) was carried with considerable effect of inhibition on the organisms. The MIC values observed were 1, 24, 16 and 19 mm against E. coli, B. cereus, P. aeruginosa and K. pnemuoniae respectively. Therefore, the plant could be a potential source of antibacterial agent although more pharmacological and clinical study may be recommended.

Keywords: phytochemicals, microorganisms, screenings, mineral ions

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Authors: Abul Shamsuddin

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The Islamic stock market indices are constructed by screening out stocks that are incompatible with Islam’s prohibition of interest and certain lines of business. This study examines the effects of Islamic screening on the risk-return characteristics of Islamic vis-a-vis mainstream equity portfolios. We use data on Dow Jones Islamic market indices and FTSE Global Islamic indices over 1993-2013. We observe that Islamic equity indices outperform their mainstream counterparts in both raw and risk-adjusted returns. In addition, Islamic equity indices are more resilient to turbulence in international markets than that of their mainstream counterparts. The findings are robust across a variety of portfolio performance measures.

Keywords: Dow Jones Islamic market index, FTSE global Islamic index, ethical investment, finance

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Authors: Riyas Peringattuthodiyil, Mark Taylor, Ian Wallace, Ailish Nugent, Mike Mitchell, Judith Thompson, Allison McKee, Philip C. Johnston

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Aim of Study: The purpose of the study was to screen for diabetes through HbA1c in patients with chronic pancreatitis (CP) within the Belfast Trust. Background: Patients with chronic pancreatitis are at risk of developing diabetes, earlier diagnosis with subsequent multi-disciplinary input has the potential to improve clinical outcomes. Methods: Clinical and laboratory data of patients with chronic pancreatitis were obtained through the Northern Ireland Electronic Healthcare Record (NIECR), specialist hepatobiliary, and gastrointestinal clinics. Patients were invited to have a blood test for HbA1c. Newly diagnosed patients with diabetes were then invited to attend a dedicated Belfast City Hospital (BCH) specialist chronic pancreatitis and diabetes clinic for follow up. Results: A total of 89 chronic pancreatitis patients were identified; Male54; Female:35, mean age 52 years, range 12-90 years. Aetiology of CP included alcohol 52/89 (58%), gallstones 18/89 (20%), idiopathic 10/89 11%, 2 were genetic, 1: post ECRP, 1: IgG autoimmune, 1: medication induced, 1: lipoprotein lipase deficiency 1: mumps, 1: IVDU and 1: pancreatic divisum. No patients had pancreatic carcinoma. Mean duration of CP was nine years, range 3-30 years. 15/89 (16%) of patients underwent previous pancreatic surgery/resections. Recent mean BMI was 25.1 range 14-40 kg/m². 62/89 (70%) patients had HbA1c performed. Mean HbA1c was 42 mmol/mol, range 27-97mmol/mol, 42/62 (68%) had normal HbA1c (< 42 mmol/mol) 13/62 (21%) had pre-diabetes (42-47mmol/mol) and 7/62 (11%) had diabetes (≥ 48 mmol/mol). Conclusions: Of those that participated in the screening program around one-third of patients with CP had glycaemic control in the pre and diabetic range. Potential opportunities for improving screening rates for diabetes in this cohort could include regular yearly testing at gastrointestinal and hepatobiliary clinics.

Keywords: pancreatogenic diabetes, screening, chronic pancreatitis, trust experience

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Authors: Sumi Manjipparambil Surendran, Subrata Majumdar

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Aim: The aim of the study is to find out if low PAPP-A (Pregnancy-Associated Plasma Protein A) levels in the first trimester are associated with adverse obstetric outcome. Methods: A retrospective study was carried out on 114 singleton pregnancies having undergone combined test screening. Results: There is statistically significant increased incidence of low birth weight infants in the low PAPP-A group. However, significant association was not found in the incidence of pre-eclampsia, miscarriage, and placental abruption. Conclusion: Low PAPP-A in the first trimester is associated with fetal growth restriction. Recommendation: Women with low PAPP-A levels in first trimester pregnancy screening require consultant-led care and serial growth scans.

Keywords: pregnancy, pregnancy-associated plasma protein A, PAPP-A, fetal growth restriction, trimester

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Authors: Ow Tze Weng, Suhaila Isaak, Yusmeeraz Yusof

Abstract:

The trend of health care screening devices in the world is increasingly towards the favor of portability and wearability, especially in the most common electrocardiogram (ECG) monitoring system. This is because these wearable screening devices are not restricting the patient’s freedom and daily activities. While the demand of low power and low cost biomedical system on chip (SoC) is increasing in exponential way, the front end ECG sensors are still suffering from flicker noise for low frequency cardiac signal acquisition, 50 Hz power line electromagnetic interference, and the large unstable input offsets due to the electrode-skin interface is not attached properly. In this paper, a high performance CMOS amplifier for ECG sensors that suitable for low power wearable cardiac screening is proposed. The amplifier adopts the highly stable folded cascode topology and later being implemented into RC feedback circuit for low frequency DC offset cancellation. By using 0.13 µm CMOS technology from Silterra, the simulation results show that this front end circuit can achieve a very low input referred noise of 1 pV/√Hz and high common mode rejection ratio (CMRR) of 174.05 dB. It also gives voltage gain of 75.45 dB with good power supply rejection ratio (PSSR) of 92.12 dB. The total power consumption is only 3 µW and thus suitable to be implemented with further signal processing and classification back end for low power biomedical SoC.

Keywords: CMOS, ECG, amplifier, low power

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Authors: Allison Herlene Du Plessis, Dalena (R.M.) Van Rooyen, Wilma Ten Ham-Baloyi, Sihaam Jardien-Baboo

Abstract:

Introduction: Women die in pregnancy and childbirth for five main reasons—severe bleeding, infections, unsafe abortions, hypertensive disorders (pre-eclampsia and eclampsia), and medical complications including cardiac disease, diabetes, or HIV/AIDS complicated by pregnancy. In 2015, WHO classified sepsis as the third highest cause for maternal mortalities in the world. Chorioamnionitis is a clinical syndrome of intrauterine infection during any stage of the pregnancy and it refers to ascending bacteria from the vaginal canal up into the uterus, causing infection. While the incidence rates for chorioamnionitis are not well documented, complications related to chorioamnionitis are well documented and midwives still struggle to identify this condition in time due to its complex nature. Few diagnostic methods are available in public health services, due to escalated laboratory costs. Often the affordable biomarkers, such as C-reactive protein CRP, full blood count (FBC) and WBC, have low significance in diagnosing chorioamnionitis. A lack of screening impacts on effective and timeous management of chorioamnionitis, and early identification and management of risks could help to prevent neonatal complications and reduce the subsequent series of morbidities and healthcare costs of infants who are health foci of perinatal infections. Objective: This integrative literature review provides an overview of current best research evidence on the screening of women at risk for chorioamnionitis. Design: An integrative literature review was conducted using a systematic electronic literature search through EBSCOhost, Cochrane Online, Wiley Online, PubMed, Scopus and Google. Guidelines, research studies, and reports in English related to chorioamnionitis from 2008 up until 2020 were included in the study. Findings: After critical appraisal, 31 articles were included. More than one third (67%) of the literature included ranked on the three highest levels of evidence (Level I, II and III). Data extracted regarding screening for chorioamnionitis was synthesized into four themes, namely: screening by clinical signs and symptoms, screening by causative factors of chorioamnionitis, screening of obstetric history, and essential biomarkers to diagnose chorioamnionitis. Key conclusions: There are factors that can be used by midwives to identify women at risk for chorioamnionitis. However, there are a paucity of established sociological, epidemiological and behavioral factors to screen this population. Several biomarkers are available to diagnose chorioamnionitis. Increased Interleukin-6 in amniotic fluid is the better indicator and strongest predictor of histological chorioamnionitis, whereas the available rapid matrix-metalloproteinase-8 test requires further testing. Maternal white blood cells count (WBC) has shown poor selectivity and sensitivity, and C-reactive protein (CRP) thresholds varied among studies and are not ideal for conclusive diagnosis of subclinical chorioamnionitis. Implications for practice: Screening of women at risk for chorioamnionitis by health care providers providing care for pregnant women, including midwives, is important for diagnosis and management before complications arise, particularly in resource-constraint settings.

Keywords: chorioamnionitis, guidelines, best evidence, screening, diagnosis, pregnant women

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Authors: Wafa Al Jabri

Abstract:

Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

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Authors: Keaghan Brown

Abstract:

The prioritization of drug resistance mutations impacting protein folding or protein-drug and protein-DNA interactions within macromolecular systems is critical to the success of treatment regimens. With a continual increase in computational tools to assess these impacts, the need for scalability and reproducibility became an essential component of computational analysis and experimental research. Here it introduce a bioinformatics pipeline that combines several structural analysis tools in a simplified workflow, by optimizing the present computational hardware and software to automatically ease the flow of data transformations. Utilizing preestablished software tools, it was possible to develop a pipeline with a set of pre-defined functions that will automate mutation introduction into the HIV-1 Integrase protein structure, calculate the gain and loss of polar interactions and calculate the change in energy of protein fold. Additionally, an automated molecular dynamics analysis was implemented which reduces the constant need for user input and output management. The resulting pipeline, Automated Mutation Introduction and Analysis (AMIA) is an open source set of scripts designed to introduce and analyse the effects of mutations on the static protein structure as well as the results of the multi-conformational states from molecular dynamic simulations. The workflow allows the user to visualize all outputs in a user friendly manner thereby successfully enabling the prioritization of variant systems for experimental validation.

Keywords: automated workflow, variant prioritization, drug resistance, HIV Integrase

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