Search results for: mutation score

Authors: Alexandru-Ion Marinescu

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There exist a plethora of methods in the scientific literature which tackle the well-established task of credit score evaluation. In its most abstract form, a credit scoring algorithm takes as input several credit applicant properties, such as age, marital status, employment status, loan duration, etc. and must output a binary response variable (i.e. “GOOD” or “BAD”) stating whether the client is susceptible to payment return delays. Data imbalance is a common occurrence among financial institution databases, with the majority being classified as “GOOD” clients (clients that respect the loan return calendar) alongside a small percentage of “BAD” clients. But it is the “BAD” clients we are interested in since accurately predicting their behavior is crucial in preventing unwanted loss for loan providers. We add to this whole context the constraint that the algorithm must yield an actual, tractable mathematical formula, which is friendlier towards financial analysts. To this end, we have turned to genetic algorithms and genetic programming, aiming to evolve actual mathematical expressions using specially tailored mutation and crossover operators. As far as data representation is concerned, we employ a very flexible mechanism – LINQ expression trees, readily available in the C# programming language, enabling us to construct executable pieces of code at runtime. As the title implies, they model trees, with intermediate nodes being operators (addition, subtraction, multiplication, division) or mathematical functions (sin, cos, abs, round, etc.) and leaf nodes storing either constants or variables. There is a one-to-one correspondence between the client properties and the formula variables. The mutation and crossover operators work on a flattened version of the tree, obtained via a pre-order traversal. A consequence of our chosen technique is that we can identify and discard client properties which do not take part in the final score evaluation, effectively acting as a dimensionality reduction scheme. We compare ourselves with state of the art approaches, such as support vector machines, Bayesian networks, and extreme learning machines, to name a few. The data sets we benchmark against amount to a total of 8, of which we mention the well-known Australian credit and German credit data sets, and the performance indicators are the following: percentage correctly classified, area under curve, partial Gini index, H-measure, Brier score and Kolmogorov-Smirnov statistic, respectively. Finally, we obtain encouraging results, which, although placing us in the lower half of the hierarchy, drive us to further refine the algorithm.

Keywords: expression trees, financial credit scoring, genetic algorithm, genetic programming, symbolic evolution

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Authors: Mohammad Samarah, Benjamin Stark, Jennifer Kindle, Langley Payton

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Innovation is a key driver for companies, society, and economic growth. However, assessing and measuring innovation for individuals as well as organizations remains difficult. Our i5-Score presented in this study will help to overcome this difficulty and facilitate measuring the innovation potential. The score is based on a framework we call the 5Gs of innovation which defines specific innovation attributes. Those are 1) the drive for long-term goals 2) the audacity to generate new ideas, 3) the openness to share ideas with others, 4) the ability to grow, and 5) the ability to maintain high levels of optimism. To validate the i5-Score, we conducted a study at Florida Polytechnic University. The results show that the i5-Score is a good measure reflecting the innovative mindset of an individual or a group. Thus, the score can be utilized for evaluating, refining and enhancing innovation capabilities.

Keywords: Change Management, Innovation Attributes, Organizational Development, STEM and Venture Creation

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Authors: Nikki Berrange, Gizelle Willows

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Business rescue has become increasingly popular since its inclusion in the Companies Act of South Africa in May 2011. The Alternate Exchange (AltX) of the Johannesburg Stock Exchange has experienced a marked increase in the number of companies entering business rescue. This study sampled twenty companies listed on the AltX to determine whether Altman’s Z-score model for emerging markets (ZEM) or Taffler’s Z-score model is a more accurate model in predicting financial distress for small to medium size companies in South Africa. The study was performed over three different time horizons; one, two and three years prior to the event of financial distress, in order to determine how many companies each model predicted would be unlikely to succeed as well as the predictive ability and accuracy of the respective models. The study found that Taffler’s Z-score model had a greater ability at predicting financial distress from all three-time horizons.

Keywords: Altman’s ZEM-score, Altman’s Z-score, AltX, business rescue, Taffler’s Z-score

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Authors: Debbarma Asis, Guha Chandan

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Tumor Protein-53 (P53) is one of the tumor suppressor proteins. P53 regulates the cell cycle that conserves stability by preventing genome mutation. It is named so as it runs as 53-kilodalton (kDa) protein on Polyacrylamide gel electrophoresis although the actual mass is 43.7 kDa. Experimental evidence has indicated that P53 cancer mutants loses tumor suppression activity and subsequently gain oncogenic activities to promote tumourigenesis. Tumor-specific DNA has recently been detected in the plasma of breast cancer patients. Detection of tumor-specific genetic materials in cancer patients may provide a unique and valuable tumor marker for diagnosis and prognosis. Commercially available MDA-468 breast cancer cell line was used for the proposed study.

Keywords: tumor protein (P53), cancer mutants, MDA-468, tumor suppressor gene

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Authors: Sonal Sethi, Mukesh Yadav, Abhimanyu Gupta

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The upcoming field of radiogenomics has the potential to upgrade the role of imaging in lung cancer management by noninvasive characterization of tumor histology and genetic microenvironment. Receptor positivity like epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) genotyping are critical in lung adenocarcinoma for treatment. As conventional identification of receptor positivity is an invasive procedure, we analyzed the features on non-invasive computed tomography (CT), which predicts the receptor positivity in lung adenocarcinoma. Retrospectively, we did a comprehensive study from 77 proven lung adenocarcinoma patients with CT images, EGFR and ALK receptor genotyping, and clinical information. Total 22/77 patients were receptor-positive (15 had only EGFR mutation, 6 had ALK mutation, and 1 had both EGFR and ALK mutation). Various morphological characteristics and metastatic distribution on CT were analyzed along with the clinical information. Univariate and multivariable logistic regression analyses were used. On multivariable logistic regression analysis, we found spiculated margin, lymphangitic spread, air bronchogram, pleural effusion, and distant metastasis had a significant predictive value for receptor mutation status. On univariate analysis, air bronchogram and pleural effusion had significant individual predictive value. Conclusions: Receptor positive lung cancer has characteristic imaging features compared with nonreceptor positive lung adenocarcinoma. Since CT is routinely used in lung cancer diagnosis, we can predict the receptor positivity by a noninvasive technique and would follow a more aggressive algorithm for evaluation of distant metastases as well as for the treatment.

Keywords: lung cancer, multidisciplinary cancer care, oncologic imaging, radiobiology

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Authors: P.P. Rupasinghe, A.H. Farid

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The Aleutian mink disease virus (AMDV, Carnivore amdoparvovirus 1) causes persistent infection, plasmacytosis, and formation and deposition of immune complexes in various organs in adult mink, leading to glomerulonephritis, arteritis and sometimes death. The disease has no cure nor an effective vaccine, and identification and culling of mink positive for anti-AMDV antibodies have not been successful in controlling the infection in many countries. The failure to eradicate the virus from infected farms may be caused by keeping false-negative individuals on the farm, virus transmission from wild animals, or neighboring farms. The identification of sources of infection, which can be performed by comparing viral sequences, is important in the success of viral eradication programs. High mutation rates could cause inaccuracies when viral sequences are used to trace back an infection to its origin. There is no published information on the mutation rate of AMDV either in vivo or in vitro. The in vivo estimation is the most accurate method, but it is difficult to perform because of the inherent technical complexities, namely infecting live animals, the unknown numbers of viral generations (i.e., infection cycles), the removal of deleterious mutations over time and genetic drift. The objective of this study was to determine the mutation rate of AMDV on which no information was available. A homogenate was prepared from the spleen of one naturally infected American mink (Neovison vison) from Nova Scotia, Canada (parental template). The near full-length genome of this isolate (91.6%, 4,143 bp) was bidirectionally sequenced. A group of black mink was inoculated with this homogenate (descendant mink). Spleen sampled were collected from 10 descendant mink after 16 weeks post-inoculation (wpi) and from anther 10 mink after 176 wpi, and their near-full length genomes were bi-directionally sequenced. Sequences of these mink were compared with each other and with the sequence of the parental template. The number of nucleotide substitutions at 176 wpi was 3.1 times greater than that at 16 wpi (113 vs 36) whereas the estimates of mutation rate at 176 wpi was 3.1 times lower than that at 176 wpi (2.85×10-3 vs 9.13×10-4 substitutions/ site/ year), showing a decreasing trend in the mutation rate per unit of time. Although there is no report on in vivo estimate of the mutation rate of DNA viruses in animals using the same method which was used in the current study, these estimates are at the higher range of reported values for DNA viruses determined by various techniques. These high estimates are logical based on the wide range of diversity and pathogenicity of AMDV isolates. The results suggest that increases in the number of nucleotide substitutions over time and subsequent divergence make it difficult to accurately trace back AMDV isolates to their origin when several years elapsed between the two samplings.

Keywords: Aleutian mink disease virus, American mink, mutation rate, nucleotide substitution

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Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

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Deafness is the most common sensory disorder with the frequency of 1/1000 in many populations. Mutations in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 are associated with congenital hearing loss. Approximately 80% of congenital hearing loss cases are recessively inherited and 15% dominantly inherited. Mutations of the GJB2 gene, encoding gap junction protein Connexin 26 (Cx26), are the most common cause of hereditary congenital hearing loss in many countries. This report presents two cases of different mutations from Iranian patients with bilateral hearing loss. DNA studies were performed for the GJB2 gene by PCR and sequencing methods. In one of them, direct sequencing of the gene showed a heterozygous T→C transition at nucleotide 604 resulting in a cysteine to arginine amino acid substitution at codon 202 (C202R) in the fourth extracellular domain (TM4) of the protein. The analyses indicate that the C202R mutation appeared de novo in the proband with a possible dominant effect (GenBank: KF 638275). In the other one, DNA sequencing revealed a compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). So screening the mutations for hearing loss individuals referring to genetics counseling centers before marriage and or pregnancy is recommended.

Keywords: CX26, deafness, GJB2, mutation

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Authors: Akhmylovskaia Larisa, Barysh Andriana

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The present paper is introducing the translation score developing methodology and methods in the cross-cultural communication. The ideas and examples presented by the authors illustrate the universal character of translation score developing methods under analysis. Personal experience in the international theatre-making projects, opera laboratories, cross-cultural master-classes, movie and theatre festivals give more opportunities to single out the conditions, forms, means and principles of translation score developing as well as the translator/interpreter’s functions as cultural liaison for multiethnic collaboration.

Keywords: methodology of translation score developing, pre-production, analysis, production, post-production, ethnic scene theory, theatre anthropology, laboratory, master-class, educational project, academic project, Stanislavski terminology meta-language, super-objective, participant observation

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Authors: Cenza Rhoda, Falone Sunda, Elvis Kidzeru, Nonhlanhla P. Khumalo, Afolake Arowolo

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Introduction: The human FAM111B gene mutations are associated with POIKTMP, a rare multi-organ fibrosing disease. Recent studies also reported the overexpression of FAM111B in specific cancers. However, the role of FAM111B in these pathologies, particularly fibrosarcoma, remains unknown. Materials and Methods: FAM111B RNA expression in some cancer cell lines was assessed in silico and validated in vitro in these cell lines and skin fibroblasts derived from the South African family member affected by POIKTMP with the heterozygous FAM111B gene mutation: NM_198947.4: c.1861T>G (p. Tyr621Asp or Y621D) by qPCR and western blot. The cellular function of FAM111B was also studied in HT1080 using various cell-based functional assays and a simple and cost-effective PCR-RFLP method for genotyping/screening FAM111B gene mutations described. Results: Expression studies showed upregulated FAM111B mRNA and protein in the cancer cells. High FAM111B expression with robust nuclear localization occurred in HT1080. Additionally, expression data and cell-based assays indicated that FAM111B led to the upregulation of cell migration and decreased cell apoptosis and cell proliferation modulation. FAM111B Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein expression were markedly downregulated (p ≤ 0.05) in the patient's skin-derived fibroblasts. Lastly, the PCR-RFLP method successfully genotyped FAM111B Y621D gene mutation. Discussion: FAM111B is a cancer-associated nuclear protein: Its modulation by mutations may enhance cell migration and proliferation and decrease apoptosis, as seen in cancers and POIKTMP/fibrosis, thus representing a viable therapeutic target in these disorders. Furthermore, the PCR-RFLP method could prove a valuable tool for FAM111B mutation validation or screening in resource-constrained laboratories.

Keywords: FAM111B, POIKTMP, cancer, fibrosis, PCR-RFLP

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Authors: Attallah Bilal, Hendel Fatiha

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This paper proposes the bimodal biometrics system for identity verification iris and fingerprint, at matching score level architecture using weighted sum of score technique. The features are extracted from the pre processed images of iris and fingerprint. These features of a query image are compared with those of a database image to obtain matching scores. The individual scores generated after matching are passed to the fusion module. This module consists of three major steps i.e., normalization, generation of similarity score and fusion of weighted scores. The final score is then used to declare the person as genuine or an impostor. The system is tested on CASIA database and gives an overall accuracy of 91.04% with FAR of 2.58% and FRR of 8.34%.

Keywords: iris, fingerprint, sum rule, fusion

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Authors: Narupon Kunbootsri, J. Kraipoj, K. Phandech, P. Sirasaporn

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Physiotherapy is one of the treatments for frozen shoulder but there was no data about the treatment of physiotherapy. Moreover, it is question about onset of symptom before physiotherapy program and obtaining physical modalities and delayed start physiotherapy program lead to delayed improvement. Thus the aim of this study was to investigate physiotherapy program for frozen shoulder on pain score, onset of symptom and obtaining physical modalities. A retrospective study design was conducted. 182 medical records of patients with frozen shoulder were reviewed. These frozen shoulders were treated at physiotherapy unit, department of Rehabilitation last 3 years (January, 2014- December, 2016). The data consist of onset of symptom, pain score and obtaining physical modalities were recorded. There was a statistically significant improve in pain score, pretreatment score mean 7.24±1.52 and the last follow up pain score mean 3.88± 1.0 [mean difference 3.18 with 95%CI were [2.45- 3.92]. In addition, the onset of symptoms was 145 days before obtaining physiotherapy program. The physical modalities used frequently were hot pack 14.8% and ultrasound diathermy 13.7%. In conclusion, the retrospective study show physiotherapy program including, hot pack and ultrasound diathermy seem to be useful for frozen shoulder in term of pain score. But onset of symptom is too long to start physiotherapy programs.

Keywords: frozen shoulder, physiotherapy, pain score, onset of symptom, physical modality

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Authors: Thidathit Prachanukool, Chaiyaporn Yuksen, Welawat Tienpratarn, Sorravit Savatmongkorngul, Panvilai Tangkulpanich, Chetsadakon Jenpanitpong, Yuranan Phootothum, Malivan Phontabtim, Promphet Nuanprom

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Background: Ruptured appendicitis has a high morbidity and mortality and requires immediate surgery. The Alvarado Score is used as a tool to predict the risk of acute appendicitis, but there is no such score for predicting rupture. This study aimed to developed the prediction score to determine the likelihood of ruptured appendicitis in an Asian population. Methods: This study was diagnostic, retrospectively cross-sectional and exploratory model at the Emergency Medicine Department in Ramathibodi Hospital between March 2016 and March 2018. The inclusion criteria were age >15 years and an available pathology report after appendectomy. Clinical factors included gender, age>60 years, right lower quadrant pain, migratory pain, nausea and/or vomiting, diarrhea, anorexia, fever>37.3°C, rebound tenderness, guarding, white blood cell count, polymorphonuclear white blood cells (PMN)>75%, and the pain duration before presentation. The predictive model and prediction score for ruptured appendicitis was developed by multivariable logistic regression analysis. Result: During the study period, 480 patients met the inclusion criteria; of these, 77 (16%) had ruptured appendicitis. Five independent factors were predictive of rupture, age>60 years, fever>37.3°C, guarding, PMN>75%, and duration of pain>24 hours to presentation. A score > 6 increased the likelihood ratio of ruptured appendicitis by 3.88 times. Conclusion: Using the Ramathibodi Welawat Ruptured Appendicitis Score. (RAMA WeRA Score) developed in this study, a score of > 6 was associated with ruptured appendicitis.

Keywords: predictive model, risk score, ruptured appendicitis, emergency room

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Authors: Issam M Hajjaji, Adel Tajoury, Salah R Benhamid

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The MENA region has the highest prevalence of diabetes in the world. Various risk scores were developed, not all appropriate locally. The objective of this study is to apply the FINDRISC Score to adult Libyan males to determine its significance, sensitivity, specificity and Positive Predictive Values as an initial screening tool for type 2 diabetes, and suggest a cut-off point. Methods: 600 subjects answered the questionnaire at their place of work, and their waist, weight, height & BP were measured. Thereafter, after excluding those with known diabetes, an Oral Glucose Tolerance Test was done. Results: 414 subjects aged 19-78 completed the questionnaire and tests. 35 (8.4%) had impaired glucose tolerance (IGT) and 13 (3.1%) had diabetes (DM). The AUC-ROC for IGT was 0.614 (95% CI: 0.527-0.701), for DM 0.810 (95% CI: 0.709-0.911) and for both 0.689 (95% CI: 0.609-0.769). The Positive Predictive Value for a cut-off score of 5 were 15.5%, 11.7% & 5.7% for both conditions combined, prediabetes & diabetes respectively. The equivalent values for a cut-off score of 8 were 16.1%, 9.0% & 7.7%. The Negative Predictive Values were uniformly above 90%. Conclusions & Recommendations: The FINDRISC Score had a low predictive value for dysglycaemia in this sample and performed at a level of significance for IGT that is similar to other MENA countries, but did better for DM. A larger sample that included women is suggested, with a view of adjusting the Score to suit the local population.

Keywords: diabetes, FINDRISK, Libya, prediabetes

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Authors: Masri Baharom

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The purpose of the study is to identify the age group of children 9 who have experienced delays in gross motor development. Instrument used in this study is Test Gross Motor Development / TGMD-2 (Ulrich, 2000) which was adopted at the international level. Gross motor development data were obtained by video recording (Sony (DRC-SR42 with a 40x optical zoom capability, and software Ultimate Studio 14) on locomotor and manipulative skills. A total n = 192 persons, children of 9 years (9.30 ± .431) at Sekolah Kebangsaan Mutiara Perdana, Bayan Lepas, Penang were involved as subjects. Children age 9 years experienced delays AELS (4.61 ± .69), AEMS (5:52 ± .62) and GMDQ (7.26 ± .2.14). The findings based on descriptive rating indicated that the performance of children age 9 years acquired low levels of AELS, MSS, AEMS and very low in LSS and GMDS.

Keywords: gross motor development score, locomotor standard score, age equivalent locomotor score, manipulative standard score, age equivalent manipulative score

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Authors: Volker Wannack

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The aim of this paper is to present a concept for addressing the Oracle Problem in the context of hydrogen production using renewable energy sources. The proposed approach relies on the authentication of the electricity used for hydrogen production by multiple surrounding actors with similar electricity generation facilities, which attest to the authenticity of the electricity production. The concept introduces an Authenticity Score assigned to each certificate, as well as a Trust Score assigned to each witness. Each certificate must be attested by different actors with a sufficient Trust Score to achieve an Authenticity Score above a predefined threshold, thereby demonstrating that the produced hydrogen is indeed "green."

Keywords: hydrogen, blockchain, sustainability, structural change

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Authors: Salehah Tahkin, Norlaila Mustafa, Dayang Anita Abdul Aziz

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Knowledge of medical ethics is important to all practitioners so the best care can be delivered to all patients through safe practice. Surgeons are not exceptions to this. Knowledge, attitude, and practice (KAP) of medical ethics among paediatric surgeons and trainees in Malaysia has not been evaluated before. This study aims to determine the level of KAP regarding medical ethics among these groups. This was a cross-sectional study involving three groups of samples, i.e., paediatric surgeons (PS), paediatric surgical trainees (PST), and medical officers with a special interest in paediatric surgery (MO). A validated KAP questionnaire was used. Standard formulas were used to calculate objective indexes for measuring KAP, which were then compared for statistical significance across different sample groups; p less than 0.05 is taken as significant. The index is rated into 5 classes using a score of 0 to 10, i.e., poor (1-2.99), fair (3-4.99), good (5-6.99), very good (7-8.99), and excellent (9-10). There were 117 samples, i.e., PS n=45 (38.5%), PST n=25 (21.3%), and MO n=47 (40.2%). For knowledge, all three groups display a good index score (mean score of 5.44). For attitude, PS and MO also display an index score of good (mean score of 5.81), while the PST index score was fair (4.82). For practice, our study shows a highest score of 7.14 (very good) among PST. However, these differences were not statistically significant (p> 0.05). Conclusion: Training in paediatric surgery must continue to emphasize professionalism and medical ethics education to deliver the best health care services.

Keywords: KAP, medical ethics, paediatric, surgeons, trainees

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Authors: Nafisa Banu

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The present study is an attempt to analyze the regional disparities in the level of education in West Bengal. The data based on secondary sources obtained from a census of India. The study is divided into four sections. The first section presents introductions, objectives and brief descriptions of the study area, second part discuss the methodology and data base, while third and fourth comprise the empirical results, interpretation, and conclusion respectively. For showing the level of educational development, 8 indicators have been selected and Z- score and composite score techniques have been applied. The present study finds out there are large variations of educational level due to various historical, economical, socio-cultural factors of the study area.

Keywords: education, regional disparity, literacy rate, Z-score, composite score

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Authors: Ahmad Hashim, Masri Baharom

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The purpose of the study is to identify the age group of children 9 who have experienced delays in gross motor development. Instrument used in this study is Test Gross Motor Development / TGMD-2 (Ulrich, 2000) which was adopted at the international level. Gross motor development data were obtained by video recording (Sony (DRC-SR42 with a 40x optical zoom capability, and software Ultimate Studio 14) on locomotor and manipulative skills. A total n = 192 persons, children of 9 years (9.30 ± .431) at Sekolah Kebangsaan Mutiara Perdana, Bayan Lepas, Penang were involved as subjects. Children age 9 years experienced delays AELS (4.61 ± .69), AEMS (5:52 ± .62) and GMDQ (7.26 ± .2.14). The findings based on descriptive rating indicated that the performance of children age 9 years acquired low levels of AELS, MSS, AEMS and very low in LSS and GMDS.

Keywords: gross motor development score, locomotor standard score, age equivalent locomotor score, manipulative standard score, age equivalent manipulative score

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Authors: Hatem A. El-Mezayen, Hossam Darwesh

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Background/Aim: Hepatocellular carcinoma (HCC) is often diagnosed at advanced stage where effective therapies are lacking. Identification of new scoring system is needed to discriminate HCC patients from those with chronic liver disease. Based on the link between vascular endothelial growth factor (VEGF) and HCC progression, we aimed to develop a novel score based on combination of VEGF and routine laboratory tests for early prediction of HCC. Methods: VEGF was assayed for HCC group (123), liver cirrhosis group (210) and control group (50) by Enzyme Linked Immunosorbent Assay (ELISA). Data from all groups were retrospectively analyzed including α feto protein (AFP), international normalized ratio (INR), albumin and platelet count, transaminases, and age. Areas under ROC curve were used to develop the score. Results: A novel index named hepatocellular carcinoma-vascular endothelial growth factor score (HCC-VEGF score)=1.26 (numerical constant) + 0.05 ×AFP (U L-1)+0.038 × VEGF(ng ml-1)+0.004× INR –1.02 × Albumin (g l-1)–0.002 × Platelet count × 109 l-1 was developed. HCC-VEGF score produce area under ROC curve of 0.98 for discriminating HCC patients from liver cirrhosis with sensitivity of 91% and specificity of 82% at cut-off 4.4 (ie less than 4.4 considered cirrhosis and greater than 4.4 considered HCC). Conclusion: Hepatocellular carcinoma-VEGF score could replace AFP in HCC screening and follow up of cirrhotic patients.

Keywords: Hepatocellular carcinoma, cirrhosis, HCV, diagnosis, tumor markers

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Authors: Nicholas Marinus Batt, Angus Radford, Khaled Saraya

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Pulmonary Embolus Severity Index (PESI) score is a well-validated decision-making score grading mortality rates (MR) in patients with a suspected or confirmed diagnosis of pulmonary embolism (PE) into 5 classes. Thirty and 90 days MR in class I and II are lower allowing the treatment of these patients as outpatients. In a London District General Hospital (DGH) with mixed ethnicity and high disease burden, we looked at MR at 1, 3, and 7 days of all PESI score classes. Our pilot study of 112 patients showed MR of 0% in class I, II, and III. The current study includes positive Computed Tomographic Scans (CT scans) for PE over the following three years (total of 555). MR was calculated for all PESI score classes at 1, 3 & 7 days. Thirty days MR was additionally calculated to validate the study. Our initial results so far are in line with our pilot studies. Further subgroup analysis accounting for the local co-morbidities and disease burden and its impact on the MR will be undertaken.

Keywords: Pulmonary Embolism (PE), Pulmonary Embolism Severity Index (PESI) score, mortality rate (MR), CT pulmonary artery

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Authors: S. Hallal, Z. Chami, A. Hadji-Lehtihet, S. Sokhal-Boudella, A. Berhoune, L. Yargui

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Gaucher disease is the most common lysosomal storage in our population, it is due to a deficiency of β –glucosidase acid. The enzyme deficiency causes a pathological accumulation of undegraded substrate in lysosomes. This metabolic overload is responsible for a multisystemic disease with hepatosplenomegaly, anemia, thrombocytopenia, and bone involvement. Neurological involvement is rare. The laboratory diagnosis of Gaucher disease consists of phenotypic diagnosis by determining the enzymatic activity of β - glucosidase by fluorimetric method, a study by genotypic diagnosis in the GBA gene, limiting the search recurrent mutations (N370S, L444P, 84 GG); PCR followed by an enzymatic digestion. Abnormal profiles were verified by sequencing. Monitoring of treated patients is provided by the determination of chitotriosidase. Our experience spaning a period of 6 years (2007-2014) has enabled us to diagnose 78 patients out of a total of 328 requests from the various departments of pediatrics, internal medicine, neurology. Genotypic diagnosis focused on the entire family of 9 children treated at pediatric CHU Mustapha, which help define the clinical form; or 5 of them had type III disease, carrying the L444P mutation in the homozygous state. Three others were composite (N370/L444P) (N370S/other unintended mutation in our study), and only in one family no recurrent mutation has been found. This molecular study permits screening of heterozygous essential for genetic counseling.

Keywords: Gaucher disease, mutations, N370S, L444P

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Authors: Svetlana Zhikrivetskaya, Nataliya Shirokova, Roman Bikanov, Elizaveta Musatova, Yana Kovaleva, Nataliya Vetrova, Ekaterina Pomerantseva

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Nowadays there is a growing number of couples with conceiving problems due to male or female infertility. Genetic abnormalities are responsible for about 31% of all cases of male infertility. These abnormalities include both chromosomal aberrations or aneuploidies and mutations in certain genes. Chromosomal abnormalities can be easily identified, thus the development of screening panels able to reveal genetic reasons of male infertility on gene level is of current interest. There are approximately 2,000 genes involved in male fertility that is the reason why it is very important to determine the most clinically relevant in certain population and ethnic conditions. An infertility screening panel containing 48 mutations in genes AMHR2, CFTR, DNAI1, HFE, KAL1, TSSK2 and AZF locus which are the most clinically relevant for the European population according to databases NCBI and ClinVar was designed. The aim of this research was to confirm clinic relevance of these mutations in the Russian population. Genotyping was performed in 220 patients with different types of male infertility and in 57 healthy males with normozoospermia. Mutations were identified by end-point PCR with TaqMan probes in microfluidic plates. The frequency of 5 mutations in healthy males and 13 mutations in patients with infertility was revealed and estimated. The frequency of mutation c.187C>G in HFE gene was significantly lower for healthy males (8.8%) compared with patients (17.7%) and the values for the European population according to ExAc database (13.7%) and dbSNP (17.2%). Analysis of c.3454G>C, and c.1545_1546delTA mutations in the CFTR gene revealed increased frequency (0.9 and 0.2%, respectively) in patients with infertility compared with data for the European population (0.04%, respectively (ExAc, European (Non-Finnish) and for the Aggregated Populations (0.002% (ExAc), because there is no data for European population for c.1545_1546delTA mutation. The frequency of del508 mutation (CFTR) in patients (1.59%) were lower comparing with male infertility Europeans (3.34-6.25% depending on nationality) and at the same level with healthy Europeans (1.06%, ExAc, European (Non-Finnish). Analysis of c.845G>A (HFE) mutation resulted in decreased frequency in patients (1.8%) in contrast with the European population data (5.1%, respectively, ExAc, European (Non-Finnish). Moreover, obtained data revealed no statistically significant frequency difference for c.845G>A mutation (HFE) between healthy males in the Russian and the European populations. Allele frequencies of mutations c.350G>A (CFTR), c.193A>T (HFE), c.774C>T, and c.80A>G (gene TSSK2) showed no significantly difference among patients with infertility, healthy males and Europeans. Analysis of AZF locus revealed increased frequency for AZFc microdeletion in patients with male infertility. Thereby, the new data of the allele frequencies in infertility patients in the Russian population was obtained. As well as the frequency differences of mutations associated with male infertility among patients, healthy males in the Russian population and the European one were estimated. The revealed differences showed that for high effectiveness of screening panel detecting genetically caused male infertility it is very important to consider ethnic and population characteristics of patients which will be screened.

Keywords: allele frequency, azoospermia, male infertility, mutation, population

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Authors: Faiza Belbachir, Thibault Schienhinski

Abstract:

The massive development of online social networks allows users to post and share their opinions on various topics. With this huge volume of opinion, it is interesting to extract and interpret these information for different domains, e.g., product and service benchmarking, politic, system of recommendation. This is why opinion detection is one of the most important research tasks. It consists on differentiating between opinion data and factual data. The difficulty of this task is to determine an approach which returns opinionated document. Generally, there are two approaches used for opinion detection i.e. Lexical based approaches and Machine Learning based approaches. In Lexical based approaches, a dictionary of sentimental words is used, words are associated with weights. The opinion score of document is derived by the occurrence of words from this dictionary. In Machine learning approaches, usually a classifier is trained using a set of annotated document containing sentiment, and features such as n-grams of words, part-of-speech tags, and logical forms. Majority of these works are based on documents text to determine opinion score but dont take into account if these texts are really correct. Thus, it is interesting to exploit other information to improve opinion detection. In our work, we will develop a new way to consider the opinion score. We introduce the notion of trust score. We determine opinionated documents but also if these opinions are really trustable information in relation with topics. For that we use lexical SentiWordNet to calculate opinion and trust scores, we compute different features about users like (numbers of their comments, numbers of their useful comments, Average useful review). After that, we combine opinion score and trust score to obtain a final score. We applied our method to detect trust opinions in TRIPADVISOR collection. Our experimental results report that the combination between opinion score and trust score improves opinion detection.

Keywords: Tripadvisor, opinion detection, SentiWordNet, trust score

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Authors: Wangxu Xia

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BACKGROUND BI-RADS 4 lesions raise the possibility of malignancy that warrant further clinical and radiologic work-up. This study aimed to evaluate the predictive performance of diffusion-weighted imaging(DWI) and microcalcifications on mammography for predicting malignancy of BI-RADS 4 lesions. In addition, the predictive performance of DWI combined with microcalcifications was alsocompared with the Kaiser score. METHODS During January 2021 and June 2023, 144 patients with 178 BI-RADS 4 lesions underwent conventional MRI, DWI, and mammography were included. The lesions were dichotomized intobenign or malignant according to the pathological results from core needle biopsy or surgical mastectomy. DWI was performed with a b value of 0 and 800s/mm2 and analyzed using theapparent diffusion coefficient, and a Kaiser score > 4 was considered to suggest malignancy. Thediagnostic performances for various diagnostic tests were evaluated with the receiver-operatingcharacteristic (ROC) curve. RESULTS The area under the curve (AUC) for DWI was significantly higher than that of the of mammography (0.86 vs 0.71, P<0.001), but was comparable with that of the Kaiser score (0.86 vs 0.84, P=0.58). However, the AUC for DWI combined with mammography was significantly highthan that of the Kaiser score (0.93 vs 0.84, P=0.007). The sensitivity for discriminating malignant from benign BI-RADS 4 lesions was highest at 89% for Kaiser score, but the highest specificity of 83% can be achieved with DWI combined with mammography. CONCLUSION DWI combined with microcalcifications on mammography could discriminate malignant BI-RADS4 lesions from benign ones with a high AUC and specificity. However, Kaiser score had a better sensitivity for discrimination.

Keywords: MRI, DWI, mammography, breast disease

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Authors: Adel M. Mahmoud

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This Investigation was conducted to determine the productivity and water use efficiency for new sunflower genotypes. Ten sunflower genotypes were evaluated under drip irrigation using two treatments of. Results indicate that decreasing the amount of irrigation water from 1500 to 1130 mm/hectar significantly reduced all studied traits. Mutation (M1-63) surpassed all the other one genotypes in seed yield and WUE. Lines which gave the highest yield of the seed have water use efficiency under drought conditions higher than water use efficiency under normal irrigation. The lowest depression in seed yield due to drought conditions has been registered for Line 20, Line M1-63 and Sakha 53 genotypes (11 , 18 and 16 %, respectively). Genotypes (Line 20 , Line M1-63 and Sakha 53) are more tolerant to drought than others and we can used its in breeding program to develop sunflower hybrids suitable for cultivation under drought condition.

Keywords: sunflower genotypes, water use efficiency, mutation, inbred lines

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Authors: Abdolamir Allameh, Seyyed Mortaza Haghgoo, Adnan Khosravi, Esmaeil Mortaz, Mihan Pourabdollah-Toutkaboni, Sharareh Seifi

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Non-Small Cell Lung Carcinoma (NSCLC) is associated with a number of gene mutations in epidermal growth factor receptor (EGFR). The prognostic significance of mutations in exons 19 and 21, together with serum levels of EGFR, amphiregulin (AR), and Transforming Growth Factor-alpha (TGF-α) are implicated in diagnosis and treatment. The aim of this study was to examine the relationship of EGFR mutations in selected exons with the expression of relevant ligands in sera samples of NSCLC patients. For this, a group of NSCLC patients (n=98) referred to the hospital for lung surgery with a mean age of 59±10.5 were enrolled (M/F: 75/23). Blood specimen was collected from each patient. Besides, formalin fixed paraffin embedded tissues were processed for DNA extraction. Gene mutations in exons 19 and 21 were detected by direct sequencing, following DNA amplification which was done by PCR (Polymerase Chain Reaction). Also, serum levels of EGFR, AR, and TGF-α were measured by ELISA. The results of our study show that EGFR mutations were present in 37% of Iranian NSCLC patients. The most frequently identified mutations were deletions in exon 19 (72.2%) and substitutions in exon 21 (27.8%). The most frequently identified alteration, which is considered as a rare mutation, was the E872K mutation in exon 21, which was found in 90% (9 out of 10) cases. EGFR mutation detected in exon 21 was significantly (P<0.05) correlated with the levels of its ligands, EGFR and TGF-α in serum samples. Furthermore, it was found that increased serum AR (>3pg/ml) and TGF-α (>10.5 pg/ml) were associated with shorter overall survival (P<0.05). The results clearly showed a close relationship between EGFR mutations and serum EGFR and serum TGF-α. Increased serum EGFR was associated with TGF-α and AR and linked to poor prognosis of NSCLC. These findings are implicated in clinical decision-making related to EGFR-Tyrosine kinase inhibitors (TKIs).

Keywords: lung cancer, Iranian patients, epidermal growth factor, mutation, prognosis

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Authors: Azam Najafkouchak, David Todem, Dorothy Pathak, Pramod Pathak, Joseph Gardiner

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Propensity score (PS) methods have recently become the standard analysis tool for causal inference in observational studies where exposure is not randomly assigned. Thus, confounding can impact the estimation of treatment effect on the outcome. Due to the dangers of discretizing continuous variables, the focus of this paper will be on how the variation in cut-points or boundaries will affect the average treatment effect utilizing the stratification of the PS method. In this study, we will develop a new methodology to improve the efficiency of the PS analysis through stratification and simulation study. We will also explore the property of empirical distribution of average treatment effect theoretically, including asymptotic distribution, variance estimation and 95% confident Intervals.

Keywords: propensity score, stratification, emprical distribution, average treatment effect

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Authors: Yan-Shiang Chiou, Yi-Huang Hsueh

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Bacillus cereus is a foodborne pathogen that causes two types of foodborne illness, the emetic and diarrheal syndromes. B. cereus consistently ranks among the top three among bacterial foodborne outbreaks in the ten years of 2001 to 2010 in Taiwan. Foodborne outbreak caused by B. cereus has been increased, and recently it ranks second foodborne pathogen after Vibrio parahaemolyticus. This pathogen is difficult to control due to its ubiquitousness in the environment, the psychrotrophic nature of many strains, and the heat resistance of their spores. Because complete elimination of biofilms is difficult, a better understanding of the molecular mechanisms of biofilm formation by B. cereus will help to develop better strategies to control this pathogen. Surface translocation can be an important factor in biofilm formation. In B. cereus, NprR is a quorum sensor, and its apo NprR is a dimer and changes to a tetramer in the presence of NprX. The small peptide NprX may induce conformational change allowing the apo dimer to switch to an active tetramer specifically recognizing target DNA sequences. Our result showed that mutation of nprRX causes surface spreading deficiency. Mutation of flagella, pili and surfactant genes (flgAB, bcpAB, krsABC), did not abolish spreading motility. Under nprRX mutant, mutation of spo0A restored the spreading deficiency. This suggests that spreading motility is not related surfactant, pili and flagella but other unknown mechanism and Spo0A, a sporulation initiation protein, inhibits spreading motility.

Keywords: Bacillus cereus, nprRX, spo0A, spreading motility

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Authors: Yuan-Hsiang Chang, Zhong-Xian Peng, Li-Der Jeng

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Music has always been an integral part of human’s daily lives. But, for the most people, reading musical score and turning it into melody is not easy. This study aims to develop an Automatic music score recognition system using digital image processing, which can be used to read and analyze musical score images automatically. The technical approaches included: (1) staff region segmentation; (2) image preprocessing; (3) note recognition; and (4) accidental and rest recognition. Digital image processing techniques (e.g., horizontal /vertical projections, connected component labeling, morphological processing, template matching, etc.) were applied according to musical notes, accidents, and rests in staff notations. Preliminary results showed that our system could achieve detection and recognition rates of 96.3% and 91.7%, respectively. In conclusion, we presented an effective automated musical score recognition system that could be integrated in a system with a media player to play music/songs given input images of musical score. Ultimately, this system could also be incorporated in applications for mobile devices as a learning tool, such that a music player could learn to play music/songs.

Keywords: connected component labeling, image processing, morphological processing, optical musical recognition

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Authors: Bara M. Yousef

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Kingdome of Saudi Arabia (KSA). High numbers of traffic accidents with sever, moderate and mild level of impairments admits to Sultan bin Abdulaziz humanitarian city. Over a period of 4 months the city received 111 male and 79 female subjects with CP, who received 4-6 weeks of rehabilitation and using WeeFIM score to measure rehabilitation outcomes. WeeFIM measures and covers various domains, such as: self-care, mobility, locomotion, communication and other psycho-social aspects. Our findings shed the light on the fact that nearly 85% of people at admission got better after rehabilitation program services at individual sever moderate and mild and has arrange of (59 out of 128 WeeFIM score) and by the time of discharge they leave the city with better FIM score close to (72 out of 128 WeeFIM score) for the entire study sample. WeeFIM score is providing fair evidence to rehabilitation specialists to assess their outcomes. However there is a need to implement other instruments and compare it to WeeFIM in order to reach better outcomes at discharge level.

Keywords: Cerepral Palsy (CP), pediatric Functional Independent Measure (WeeFIM), rehabilitation, disability

Procedia PDF Downloads 196