Search results for: mutation score

Authors: Mohsen Danesh Mesgaran, Ali Hodjatpanah Montazeri, Alireza Vakili, Mansoor Tahmasbei

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To compare peppermint essential oil versus a mixture of formic and propionic acids a study was conducted to their effects on volatile fatty acid proportion and VFA score of corn silage. Chopped whole crop corn (control) was treated with peppermint essential oil (240 mg kg-1 DM) or a mixture of formic and propionic acids (2:1) at 0.4% of fresh forage weight, and ensiled for 30 days. Then, silage extract was provided and the concentration of each VFA was determined using gas chromatography. The VFA score was calculated according to the patented formula proposed by Dairy One Scientific Committee. The score is calculated based on the positive impact of lactic and acetic acids versus the negative effect of butyric acid to achieve a single value for evaluating silage quality. The essential oil declined pH and increased the concentration of lactic and acetic acids in the silage extract. All corn silages evaluated in this study had a VFA score between 6 through 8. However, silage with peppermint essential oils had lower volatile fatty acids score than those of the other treatments. Both of applied additives caused a significant improvement in silage aerobic stability.

Keywords: peppermint, essential oil, corn silage, VFA (volatile fatty acids)

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

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

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

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Authors: Ahmad Shahfarhat, Ashraf Mohammadzade, Reza Saeedi, Hadi Hesari

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Background: Mothers of infants admitted at NICU are vulnerable to depression (affecting 10 to 20% of mothers during the first year after delivery) As you know, about half of women with prominent postpartum depression (PPD) symptoms are not diagnosed. The Edinburgh Postnatal Depression Scale (EPDS) is the most widely used screening instrument for PPD. In this study, we checked EPDS score of 12 or more on the second day (D2), discharge, day 28(D28), and day42 (D42) postpartum to determine the risk factors as well as the prevalence of PPD in a sample of mothers of NICU admitted neonates. Methods: A sample of 682 women used the EPDS on admission and at discharge. An assessment for PPD was performed on D28 and D42 by a telephone interview. Results: On admission, the average score on EPDS was 9.72 (SD = 4.4), and 27.4% of women (187) had an EPDS score ≥12. On Discharge, 4weeks and 6weeks postpartum the average score was ordinary 9.34 (SD = 3.8), 9.12 (SD = 3.7), 8.52(SD = 3.36), and (173)25.4 %,( 141)23.3 %,( 88)15.3% of women presented with PPD. a positive correlation was found between scores on EPDS on admission and D42 (P = 0.001). An analysis shows that mothers of twins (P = 0.001) and higher age mothers (P=0.001) are significantly associated with PPD. Conclusion: Women with EPDS score more than 12 and/or older will benefit from a closer follow-up during the rest of the post-partum period, and it is better to be under psychological support.

Keywords: NICU, depression, pregnancy, mothers

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Authors: Larisa Akhmylovskaia, Andriana Barysh

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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 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, participant observation, super-objective

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Authors: Minseock Seo

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Dental education consists of both theoretical and practical learning for students. When dental students encounter practical courses as a new educational experience, they must also learn to evaluate themselves. The aim of this study was to investigate the self-assessment scores of third-year dental students and compare with the scores graded by the faculty in preclinical endodontic practice in a dental school in Korea. Faculty- and student-assigned scores were calculated from preclinical endodontic practice performed on phantom patients. The students were formally instructed on grading procedures for endodontic treatment. After each step, each item was assessed by the student. The students’ self-assessment score was then compared to the score by the faculty. The students were divided into 4 groups by analyzing the scores of self-assessment and faculty-assessment and statistically analyzed by summing the theoretical and practical examination scores. In the theoretical exam score, the group who over-estimated their performance (H group) was lower than the group with lower evaluation (L group). When comparing the first and last score determined by the faculty, H groups didn’t show any improvement, while the other group did. In H group, the less improvement of the self-assessment, the higher the theoretical exam score. In L group, the higher improvement of the self-assessment, the better the theoretical exam score. The results point to the need to develop students’ self-insight with more exercises and practical training.

Keywords: dental students, endodontic, preclinical practice, self-assessment

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Authors: Nandu C. Nair, Kamal Bijlani

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This paper proposes a concept-based assessment to track the performance of the students. The idea behind this approach is to map the exam questions with the concepts learned in the course. So at the end of the course, each student will know how well he learned each concept. This system will give a self assessment for the students as well as instructor. By analyzing the score of all students, instructor can decide some concepts need to be teaching again or not. The system’s efficiency is proved using three courses from M-tech program in E-Learning technologies and results show that the concept-wise assessment improved the score in final exam of majority students on various courses.

Keywords: assessment, concept, examination, question, score

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Authors: Nopadol Burananuth, Tawatpupisit Pattaradapa

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The objective of this research is to study opinion of staff responsible for Quality Assurance. Research sample is 50 staff at Suan Sunandha Rajabhat University related to Quality Assurance works from each faculty and organization within the university. Data were analyzed using the computer program. The statistics used in data analysis were frequency, percentage, mean and standard deviation. The results reveal that most of the respondents were female, 92%, aged between 31-40 years, 44%. Most of them have been working on Quality Assurance for 1-3 years, 44%. The staff opinion survey showed that the operation received the highest score. In terms of Planning, committee appointment and job descriptions received the highest mean score. For Checking, acknowledging the results and reviewing quality in education received the highest mean score. For Acting, participating in the meeting in order to revise approach to Quality Assurance received the highest mean score. For Doing, planning an internal quality assurance by assigning period, budget and responsibilities received the highest mean score.

Keywords: education quality assurance, administration, staff, Suan Sunandha Rajabhat University

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Authors: Devina Aprilia Gunawan, Tasya Aspiranti, Inugrah Ratia Pratiwi

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This research aims to classify the mining sector companies based on Altman’s Z-score model, and providing an analysis based on the Altman’s Z-score model’s financial ratios to provide a picture about the financial condition in mining sector companies in Indonesia and their viability in the future, and to find out the partial and simultaneous impact of each of the financial ratio variables in the Altman’s Z-score model, namely (WC/TA), (RE/TA), (EBIT/TA), (MVE/TL), and (S/TA), toward the financial condition represented by the Z-score itself. Among 38 mining sector companies listed in Indonesia Stock Exchange (IDX), 28 companies are selected as research sample according to the purposive sampling criteria.The results of this research showed that during 3 years research period at 2010-2012, the amount of the companies that was predicted to be healthy in each year was less than half of the total sample companies and not even reach up to 50%. The multiple regression analysis result showed that all of the research hypotheses are accepted, which means that (WC/TA), (RE/TA), (EBIT/TA), (MVE/TL), and (S/TA), both partially and simultaneously had an impact towards company’s financial condition.

Keywords: Altman’s Z-score model, financial condition, mining companies, Indonesia

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Authors: Abhijitsinh Gohil, Kaushal Wadhvaniya, Kuldipsinh Jadeja

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Road Safety is a multi-sectoral and multi-dimensional issue. An effective model can assess the risk associated with highway safety. A questionnaire survey is very essential to identify the events or activities which are causing unsafe condition for traffic on an urban highway. A questionnaire of standard questions including vehicular, human and infrastructure characteristics can be made. Responses from the age wise group of road users can be taken on field. Each question or an event holds a specific risk weightage, which contributes in creating an inappropriate and unsafe flow of traffic. The probability of occurrence of an event can be calculated from the data collected from the road users. Finally, the risk score can be calculated by considering the risk factor and the probability of occurrence of individual event and addition of all risk score for the individual event will give the total risk score of a particular road. Standards for risk score can be made and total risk score can be compared with the standards. Thus road can be categorized based on risk associated and traffic safety on it. With this model, one can assess the need for traffic safety improvement on a given road, and qualitative data can be analysed.

Keywords: probability of occurrence, questionnaire, risk factor, risk score

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Authors: Hassan Hamidi, Fereshteh Zarei

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In this study, we compared amount of compete motivation between young and adult volleyball players. Compete motivation has three sections: success achieves score, defeat avoiding score and ability score. For measuring motivation, we used sports attitude inventory of Willis and Layne. The statistical population was elite's men volleyball players in range of young and adult and the study subjects were randomly selected from participant teams in volleyball professional league. In total, 65 adult and 75 young were selected. For collecting the required information, the research inventories were distributed in practice's locations and then were collected after being completed by players. For analyzing the data, we used descriptive statistics including mean, standard deviation and frequency tables. We also used conceptual statistics such as independent sample t-student and Pierson correlation. The results showed a significant difference between young and adult volleyball players in success achieve score and ability score. However, there was no significant difference between young and adult volleyball players in defeat avoiding score and compete motivation. In addition, there was not significant relationship between the length of activities and motivations' sections in adult and young volleyball player. The application of this study to other sports will be discussed.

Keywords: compete motivation, volleyball player, statistical analysis, sport psychology

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Authors: Lubena Achmad, Herman Kristanto, Julian Dewantiningrum

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Background: The Bishop score is a standard method used to predict the success of induction. This examination tends to be subjective with high inter and intraobserver variability, so it was presumed to have a low predictive value in terms of the outcome of labor induction. Cervical length measurement using transvaginal ultrasound is considered to be more objective to assess the cervical length. Meanwhile, this examination is not a complicated procedure and less invasive than vaginal touché. Objective: To compare transvaginal ultrasound and Bishop score in predicting successful induction. Methods: This study was a prospective cohort study. One hundred and twenty women with singleton pregnancies undergoing induction of labor at 37 – 42 weeks and met inclusion and exclusion criteria were enrolled in this study. Cervical assessment by both transvaginal ultrasound and Bishop score were conducted prior induction. The success of labor induction was defined as an ability to achieve active phase ≤ 12 hours after induction. To figure out the best cut-off point of cervical length and Bishop score, receiver operating characteristic (ROC) curves were plotted. Logistic regression analysis was used to determine which factors best-predicted induction success. Results: This study showed significant differences in terms of age, premature rupture of the membrane, the Bishop score, cervical length and funneling as significant predictors of successful induction. Using ROC curves found that the best cut-off point for prediction of successful induction was 25.45 mm for cervical length and 3 for Bishop score. Logistic regression was performed and showed only premature rupture of membranes and cervical length ≤ 25.45 that significantly predicted the success of labor induction. By excluding premature rupture of the membrane as the indication of induction, cervical length less than 25.3 mm was a better predictor of successful induction. Conclusion: Compared to Bishop score, cervical length using transvaginal ultrasound was a better predictor of successful induction.

Keywords: Bishop Score, cervical length, induction, successful induction, transvaginal sonography

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Authors: Frikha Rim, Abdelmoula Bouayed Nouha, Rebai Tarek

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Pregnancy is a hypercoagulable state which causing a defective maternal haemostatic response and leading to thrombosis of the uteroplacental vasculature, that might cause pregnancy complications as recurrent pregnancy loss (RPL). Since heritable Thrombophilic defects are associated with increased thrombosis, their prevalence was evaluated in patients with special emphasis on combinations of the above pathologies. Especially, Factor V Leiden (FVL) G1691A, methylene tetra hydro folate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, which might be related to recurrent pregnancy loss (RPL). In this study we evaluated the presence of these three mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR) C677T] amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. Factor V Leiden and Prothrombin mutation were detected respectively in 5.7% and 2.9% of women with particular history of early fetal loss and thrombotic events. Despites the luck of strength of this study, we insist that testing for the most inherited thrombophilia (FVL and FII mutation) should be performed in women with RPL in the context of thrombotic events. Multi-centre collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.

Keywords: thrombophilia, recurrent pregnancy loss, factor V Leiden, prothrombin G20210A, methylene tetra hydro folate reductase

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Authors: Aml M. El-Sharkawy, Hossam M. Darwesh

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Abstract— 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 tumor associated trypsin inhibitor (TATI) and HCC progression, we aimed to develop a novel score based on combination of TATI and routine laboratory tests for early prediction of HCC. Methods: TATI 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-TATI score) = 3.1 (numerical constant) + 0.09 ×AFP (U L-1) + 0.067 × TATI (ng ml-1) + 0.16 × INR – 1.17 × Albumin (g l-1) – 0.032 × Platelet count × 109 l-1 was developed. HCC-TATI 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 6.5 (ie less than 6.5 considered cirrhosis and greater than 4.4 considered HCC). Conclusion: Hepatocellular carcinoma-TATI score could replace AFP in HCC screening and follow up of cirrhotic patients.

Keywords: Hepatocellular carcinoma, cirrhosis, HCV, diagnosis, TATI

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Authors: Sarah Devi Silvian, Hanna Shobrina Iqomatul Haq, Fara Cholidatun Nabila, Agustin Krisna Wardani

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Bacteria ability to survive in antibiotic is controlled by the presence of gene that encodes the antibiotic resistance protein. The instability of the antibiotic resistance gene can be observed by exposing the bacteria under the lethal dose of antibiotic. Low concentration of antibiotic can induce mutation, which may take a role in bacterial adaptation through the antibiotic concentration. Lactobacillus casei FNCC 0090 is one of the probiotic bacteria that has an ability to survive in tetracycline by expressing the tetM gene. The aims of this study are to observe the possibilities of mutation happened in L.casei FNCC 0090 by exposing in sub-lethal dose of tetracycline and also observing the instability of the tetM gene by comparing the sequence between the wild type and mutant. L.casei FNCC 0090 has a lethal dose in 60 µg/ml, low concentration is applied to induce the mutation, the range from 10 µg/ml, 15 µg/ml, 30 µg/ml, 45 µg/ml, and 50 µg/ml. L.casei FNCC 0090 is exposed to the low concentration from lowest to the highest concentration to induce the adaptation. Plasmid is isolated from the highest concentration culture which is 50 µg/ml by using modified alkali lysis method with the addition of lysozyme. The tetM gene is isolated by using PCR (Polymerase Chain Reaction) method, then PCR amplicon is purified and sequenced. Sequencing is done on both samples, wild type and mutant. Both sequences are compared and the mutations can be traced in the presence of nucleotides changes. The changing of the nucleotides means that the tetM gene is instable.

Keywords: L. casei FNCC 0090, probiotic, tetM, tetracycline

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Authors: Ha T. T. Ly, Truc B. Truc, Hai N. Truong, Mai P. T. Nguyen, Ngoc D. Ngo, Khanh V. Tran, Hai T. Le

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Beta thalassemia is one of the most common inherited blood disorders, which is characterized by decreased or absent in beta globin expression. Patients with Beta thalassemia whose anemia is not so severe as to necessitate transfusions are said to have thalassemia intermedia. Objective: The goal of this study is prenatal diagnosis for pregnancy woman with Beta thalassemia intermedia and her husband with Beta thalassemia carrier at high risk of Beta thalassemia major in Northern of Vietnam. Material and method: The family has a 6 years-old compound heterozygous thalassemia major for CD71/72(+A) and Hbb:c. -78A>G/nt-28(A>G) male child. The father was heterozygous for CD71/72(+A) mutation which is Beta plus type and the mother was compound heterozygosity of two different variants, namely, Hbb: c. -78A>G/nt-28(A>G) and CD26(A-G) HbE. Prenatal Beta thalassemia mutation detection in fetal DNA was carried out using multiplex Amplification-refractory mutation system ARMS-PCR and confirmed by direct Sanger-sequencing Hbb gene. Prenatal diagnoses were perfomed by amniotic fluid sampling from pregnant woman in the 16-18th week of pregnancy after the genotypes of parents of the probands were identified. Result: When amniotic fluid sample was analyzed for Beta globin gene (Hbb), we found that the genotype is heterozygous for CD71/72(+A) and CD26(A-G) HbE. This genotype is different from the 1st child of this family. Conclusion: Prenatal diagnosis helps the parents to know the genotype and the thalassemia status of the fetus, so they can have early decision on their pregnancy. Genetic diagnosis provided a useful method in diagnosis for familial members in pedigree, genetic counseling and prenatal diagnosis.

Keywords: beta thalassemia intermedia, Hbb gene, pedigree, prenatal diagnosis

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Authors: Meltem Ramoglu, Ertugrul Safran, Hikmet Ucgun, Busra Kepenek Varol, Hulya Nilgun Gurses

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Down’s syndrome (DS) is a human genetic disorder caused by the presence of all or part of an extra chromosome 21. Many patients with DS have musculoskeletal problems that affect weak muscle tone (hypotonia) and ligament laxity. This leads to excessive joint hypermobility and decreased position sense (proprioception). Lack of proprioception may cause balance problems. The aim of our study was to investigate how does joint hypermobility affect balance in patients with DS. Our study conducted with 13 DS patients age between 18 to 40 years. Demographic data were recorded. Beighton Hypermobility Score (BHS) was used to evaluate joint hypermobility. Balance score of participants was evaluated with Berg Balance Scale (BBS). Mean age of our participants was 29,8±3,57 year. Average score of body mass index and BHS were; 33,23 ±3,78 kg/m2 and 7,61±1,04, respectively. Out of a maximum possible score of 56 on the Berg Balance Scale, scores of participants with DS ranged from 36–51, with a mean of 43±4,45. Significant correlation was found between BHS and BBS (r: -,966, p=0.00). All of our participants have 6/9 or higher grade from BHS. As a conclusion of our study; joint hypermobility may affect balance score in patients with DS. The results suggest that people with DS have worse balance scores which affected by hypermobility. Further studies need larger population for more reliable results.

Keywords: adults, balance, Down's syndrome, joint hypermobility

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Authors: Pawan Kumar, Dhananjoy Shaw

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Heart rate variability (HRV) is the physiological phenomenon of variation in the time interval between heartbeats and is alterable with fitness, age and different medical conditions including withdrawal/retirement from games/sports. Objectives of the study were to develop (a) percentile norms of heart rate variability (HRV) variables derived from time domain analysis of the Indian sportspersons withdrawn from competitive games/sports pertaining to sympathetic and parasympathetic activity (b) percentile norms of heart rate variability (HRV) variables derived from frequency domain analysis of the Indian sportspersons withdrawn from competitive games/sports pertaining to sympathetic and parasympathetic activity. The study was conducted on 430 males. Ages of the sample ranged from 30 to 35 years of same socio-economic status. Date was collected using ECG polygraphs. Data were processed and extracted using frequency domain analysis and time domain analysis. Collected data were computed with percentile from one to hundred. The finding showed that the percentile norms of heart rate variability (HRV) variables derived from time domain analysis of the Indian sportspersons withdrawn from competitive games/sports pertaining to sympathetic and parasympathetic activity namely, NN50 count (ranged from 1 to 189 score as percentile range). pNN50 count (ranged from .24 to 60.80 score as percentile range). SDNN (ranged from 17.34 to 167.29 score as percentile range). SDSD (ranged from 11.14 to 120.46 score as percentile range). RMMSD (ranged from 11.19 to 120.24 score as percentile range) and SDANN (ranged from 4.02 to 88.75 score as percentile range). The percentile norms of heart rate variability (HRV) variables derived from frequency domain analysis of the Indian sportspersons withdrawn from competitive games/sports pertaining to sympathetic and parasympathetic activity namely Low Frequency (Normalized Power) ranged from 20.68 to 90.49 score as percentile range. High Frequency (Normalized Power) ranged from 14.37 to 81.60 score as percentile range. LF/ HF ratio(ranged from 0.26 to 9.52 score as percentile range). LF (Absolute Power) ranged from 146.79 to 5669.33 score as percentile range. HF (Absolute Power) ranged from 102.85 to 10735.71 score as percentile range and Total Power (Absolute Power) ranged from 471.45 to 25879.23 score as percentile range. Conclusion: The analysis documented percentile norms for time domain analysis and frequency domain analysis for versatile use and evaluation.

Keywords: RMSSD, Percentile, SDANN, HF, LF

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Authors: A. K. Putri, A.Fitri, C. A. Batubara

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Diabetes Mellitus (DM) is a chronic disease that could cause complications. The complication can be Peripheral Arterial Disease (PAD) or Diabetic Neuropathy (DN). Peripheral Arterial Disease is checked by Ankle Brachial Index (ABI), DN is checked by Diabetic Neuropathy Examination (DNE) score. To determine the association of ABI and DNE score in DM type 2. This study uses a cross-sectional design. The subjects were DM patients at the neurology and endocrinology polyclinic at Haji Adam Malik Hospital Medan and its network hospital and this study subjects were examined for ABI and DNE scores. The data were analysed using the Fisher Exact statistics test. Demographics characteristic showed most of subject are female (51,6%), age range ≥ 60 (45.2% ; average 57,6 ± 9,8 years ), and history of DM 5-10 years (45,2%). The most patient ABI characteristics were mild PAD (42%) and moderate PAD (29%). The most patient DNE Score characteristics were≥ 3 (51,6%). There’s a significant relationship between ABI and DNE score in DM type 2 (p =0.016). Conclusion: There is a significant association between ABI and DNE scores in DM type 2 patients

Keywords: diabetic neuropathy, diabetes mellitus, ankle-brachial index, diabetic neuropathy examination

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Authors: Promise Ekpo Osaine, Daniel Melesse

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Image captioning is an active area of research in the multi-modal artificial intelligence (AI) community as it connects vision and language understanding, especially in settings where it is required that a model understands the content shown in an image and generates semantically and grammatically correct descriptions. In this project, we followed a standard approach to a deep learning-based image captioning model, injecting architecture for the encoder-decoder setup, where the encoder extracts image features, and the decoder generates a sequence of words that represents the image content. As such, we investigated image encoders, which are ResNet101, InceptionResNetV2, EfficientNetB7, EfficientNetV2M, and CLIP. As a caption generation structure, we explored long short-term memory (LSTM). The CLIP-LSTM model demonstrated superior performance compared to the encoder-decoder models, achieving a BLEU-1 score of 0.904 and a BLEU-4 score of 0.640. Additionally, among the CNN-LSTM models, EfficientNetV2M-LSTM exhibited the highest performance with a BLEU-1 score of 0.896 and a BLEU-4 score of 0.586 while using a single-layer LSTM.

Keywords: multi-modal AI systems, image captioning, encoder, decoder, BLUE score

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Authors: Carl van Walraven, Meltem Tuna

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Background: Network meta-analysis (NMA) quantifies the relative efficacy of 3 or more interventions from studies containing a subgroup of interventions. This study applied the analytical approach of NMA to quantify the relative accuracy of prediction models with distinct inclusion criteria that are evaluated on a common population (‘concurrent external validation’). Methods: We simulated binary events in 5000 patients using a known risk function. We biased the risk function and modified its precision by pre-specified amounts to create 15 prediction models with varying accuracy and distinct patient applicability. Prediction model accuracy was measured using the Scaled Brier Score (SBS). Overall prediction model accuracy was measured using fixed-effects methods that accounted for model applicability patterns. Prediction model accuracy was summarized as the Network Relative Model Accuracy (NeRMA) Score which ranges from -∞ through 0 (accuracy of random guessing) to 1 (accuracy of most accurate model in concurrent external validation). Results: The unbiased prediction model had the highest SBS. The NeRMA score correctly ranked all simulated prediction models by the extent of bias from the known risk function. A SAS macro and R-function was created to implement the NeRMA Score. Conclusions: The NeRMA Score makes it possible to quantify the accuracy of binomial prediction models having distinct inclusion criteria in a concurrent external validation.

Keywords: prediction model accuracy, scaled brier score, fixed effects methods, concurrent external validation

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Authors: Doaa M. Elghannam, Nashwa Khayrat Abousamra, Doaa A. Shahin, Enas F. Goda, Hanan Azzam, Emad Azmy, Manal Salah El-Din

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Background: The pathogenesis of acute myeloid leukemia (AML) involves the cooperation of mutations promoting proliferation/survival and those impairing differentiation. Point mutations of the NRAS gene are the most frequent somatic mutations causing aberrant signal-transduction in acute myeloid leukemia (AML). Aim: The present work was conducted to study the frequency and prognostic significance of NRAS gene mutations (NRASmut) in de novo Egyptian adult AML. Material and methods: Bone marrow specimens from 150 patients with de novo acute myeloid leukemia and controls were analyzed by genomic PCR-SSCP at codons 12, 13 (exon 1), and 61 (exon 2) for NRAS mutations. Results: NRAS gene mutations was found in 19/150 (12.7%) AML cases, represented more frequently in the FAB subtype M4eo (P = 0.028), and at codon 12, 13 (14of 19; 73.7%). Patients with NRASmut had a significant lower peripheral marrow blasts (P = 0.004, P=0.03) and non significant improved clinical outcome than patients without the mutation. Complete remission rate was (63.2% vs 56.5%; p=0.46), resistant disease (15.8% vs 23.6%; p=0.51), three years overall survival (44% vs 42%; P = 0.85) and disease free survival (42.1% vs 38.9%, P = 0.74). Multivariate analysis showed that age was the strongest unfavorable factor for overall survival (relative risk [RR], 1.9; P = .002), followed by cytogenetics (P = .004). FAB types, NRAS mutation, and leukocytosis were less important. Conclusions: NRAS gene mutation frequency and spectrum differ between biologically distinct subtypes of AML but do not significantly influence prognosis and clinical outcome.

Keywords: NRAS Gene, egyptian adult, acute myeloid leukemia, cytogenetics

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Authors: Hamed Alizadeh Dashagholi, Hossein Yousefi-Banaem, Mina Naeimi

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Current study established for EEG signal analysis in patients with language disorder. Language disorder can be defined as meaningful delay in the use or understanding of spoken or written language. The disorder can include the content or meaning of language, its form, or its use. Here we applied Z-score, power spectrum, and coherence methods to discriminate the language disorder data from healthy ones. Power spectrum of each channel in alpha, beta, gamma, delta, and theta frequency bands was measured. In addition, intra hemispheric Z-score obtained by scoring algorithm. Obtained results showed high Z-score and power spectrum in posterior regions. Therefore, we can conclude that peoples with language disorder have high brain activity in frontal region of brain in comparison with healthy peoples. Results showed that high coherence correlates with irregularities in the ERP and is often found during complex task, whereas low coherence is often found in pathological conditions. The results of the Z-score analysis of the brain dynamics showed higher Z-score peak frequency in delta, theta and beta sub bands of Language Disorder patients. In this analysis there were activity signs in both hemispheres and the left-dominant hemisphere was more active than the right.

Keywords: EEG, electroencephalography, coherence methods, language disorder, power spectrum, z-score

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Authors: Renata Checiches, Thierry Coche, Nicolas F. Delahaye, Albert Linder, Fernando Ulloa Montoya, Olivier Gruselle, Karen Langfeld, An de Creus, Bart Spiessens, Vincent G. Brichard, Jamila Louahed, Frédéric F. Lehmann

Abstract:

Background: The RNA-expression levels of cancer-testis antigens MAGE A3 and PRAME were determined in resected tissue from patients with primary non-small-cell lung cancer (NSCLC) and related to clinical outcome. EGFR, KRAS and BRAF mutation status was determined in a subset to investigate associations with MAGE A3 and PRAME expression. Methods: We conducted a single-centre, uncontrolled, retrospective study of 1260 tissue-bank samples from stage IA-III resected NSCLC. The prognostic value of antigen expression (qRT-PCR) was determined by hazard-ratio and Kaplan-Meier curves. Results: Thirty-seven percent (314/844) of tumours expressed MAGE-A3, 66% (723/1092) expressed PRAME and 31% (239/839) expressed both. Respective frequencies in squamous-cell tumours and adenocarcinomas were 43%/30% for MAGE A3 and 80%/44% for PRAME. No correlation with stage, tumour size or patient age was found. Overall, no prognostic value was identified for either antigen. A trend to poorer overall survival was associated with MAGE-A3 in stage IIIB and with PRAME in stage IB. EGFR and KRAS mutations were found in 10.1% (28/311) and 33.8% (97/311) of tumours, respectively. EGFR (but not KRAS) mutation status was negatively associated with PRAME expression. Conclusion: No clear prognostic value for either PRAME or MAGE A3 was observed in the overall population, although some observed trends may warrant further investigation.

Keywords: MAGE A3, PRAME, cancer-testis gene, NSCLC, survival, EGFR

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Authors: Mahmoud Tarek, Alaa Obeida, Mai Magdy, Khalid Hussein, Aly Shalaby

Abstract:

Background: More doctors are complaining of burnout than before, Burnout is a state of physical and mental exhaustion caused by the doctor’s lifestyle, unfortunately, Medical errors are also more likely in those suffering from burnout and these may result in malpractice suits. Methodology: It is a retrospective audit of burnout response on all neonatologists over a 9 months period. We gathered data using burnout questionnaire, it was obtained from 23 physicians, the physicians divided into 5 categories according to the final score of the 28 questions in the questionnaire. Category 1 with score from 28-38 with almost no work stress, category 2 with score (38-50) who express a low amount of job related stress, category 3 with score (51-70) with moderate amount of stress, category 4 with score (71-90) those express a high amount of job stress and begun to burnout, category 5 with score (91 and above) who are under a dangerous amount of stress and advanced stage of burnout. Results: 33 neonatologists have received the questionnaire, 23 responses were sent back with a response rate of 69.6%. The results showed that 61% of physicians fall in category 4, 31% of the physician in category 5, while 8% of physicians equally distributed between category 2 and 3 (4% each of them). On the other hand, there is no physician present in category 1. Conclusion: Burnout is prevalent in SNICUs, So interventions to minimize burnout prevalence may be of greater importance as this may be reflected indirectly on medical conditions of the patients and physicians, efforts should be done to decrease this high rate of burnout.

Keywords: Cairo, work overload, exhaustion, surgery, neonatal ICU

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Authors: Christel Elisabeth Bonin

Abstract:

The score of the 2 ½ hour ‘magnum opus’ named ‘Epitaph’ was reconstructed 10 years after Charles Mingus’ death in 1979. Most of the movements were probably composed in the late 1950s. As the finale was missing, Gunther Schuller, the conductor of the world premiere in 1989, decided to improvise one with the orchestra, using Mingus as a guide. The aim of this paper is to analyze ‘Main Score Part I ‘ and ‘Main Score Part II’ and to look into the score of Mingus’ reconstructed compositions under particular observation of the new finale, ‘Main Score Reprise’. There, Mingus left instructions for a return to the opening section of ‘Epitaph’. By examining ‘Epitaph’ in the historical context of Jazz between 1955 to 1967 and the 1980s and comparing the finale of ‘Epitaph’, created - or better said: improvised - by the musicians of the 1989 world premiere with the opening section, at first it will be interesting to discover at which point Gunther Schuller followed Mingus creative process and brought it to life in 1989. Finally, it will be speculated if Charles Mingus composition still represents a foresight of Jazz nearly 30 years after its creation.

Keywords: epitaph, Charles Mingus, Gunter Schuller, jazz reception, bebop, hardbop, Duke Ellington, black, brown and beige, African-American music, free-jazz

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Authors: Gail Louw, Helena Boshoff, Taeksun Song, Clifton Barry

Abstract:

Drug resistance in Mycobacterium tuberculosis is primarily attributed to mutations in target genes. These mutations incur a fitness cost and result in bacterial generations that are less fit, which subsequently acquire compensatory mutations to restore fitness. We hypothesize that mutations in specific drug target genes influence bacterial metabolism and cellular function, which affects its ability to develop subsequent resistance to additional agents. We aim to determine whether the sequential acquisition of drug resistance and specific mutations in a well-defined clinical M. tuberculosis strain promotes or limits the development of additional resistance. In vitro mutants resistant to pretomanid, linezolid, moxifloxacin, rifampicin and kanamycin were generated from a pan-susceptible clinical strain from the Beijing lineage. The resistant phenotypes to the anti-TB agents were confirmed by the broth microdilution assay and genetic mutations were identified by targeted gene sequencing. Growth of mono-resistant mutants was done in enriched medium for 14 days to assess in vitro fitness. Double resistant mutants were generated against anti-TB drug combinations at concentrations 5x and 10x the minimum inhibitory concentration. Subsequently, mutation frequencies for these anti-TB drugs in the different mono-resistant backgrounds were determined. The initial level of resistance and the mutation frequencies observed for the mono-resistant mutants were comparable to those previously reported. Targeted gene sequencing revealed the presence of known and clinically relevant mutations in the mutants resistant to linezolid, rifampicin, kanamycin and moxifloxacin. Significant growth defects were observed for mutants grown under in vitro conditions compared to the sensitive progenitor. Mutation frequencies determination in the mono-resistant mutants revealed a significant increase in mutation frequency against rifampicin and kanamycin, but a significant decrease in mutation frequency against linezolid and sutezolid. This suggests that these mono-resistant mutants are more prone to develop resistance to rifampicin and kanamycin, but less prone to develop resistance against linezolid and sutezolid. Even though kanamycin and linezolid both inhibit protein synthesis, these compounds target different subunits of the ribosome, thereby leading to different outcomes in terms of fitness in the mutants with impaired cellular function. These observations showed that oxazolidinone treatment is instrumental in limiting the development of multi-drug resistance in M. tuberculosis in vitro.

Keywords: oxazolidinones, mutations, resistance, tuberculosis

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Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

Abstract:

A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

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Authors: Rim Sghiri, Samia Al Shouli, Hana Benhassine, Nejla Elamri, Zahid Shakoor, Foued Slama, Adel Almogren, Hala Zeglaoui, Elyes Bouajina, Ramzi Zemni

Abstract:

Objectives: Little is known about genes predisposing to systemic bone loss (SBL) in rheumatoid arthritis (RA). Therefore, we examined the association between SBL and a variant of CD40 gene, which is known to play a critical role in both immune response and bone homeostasis among patients with RA. Methods: CD40 rs48104850 was genotyped in 176 adult RA patients. Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry (DXA). Results: Low BMD was observed in 116 (65.9%) patients. Among them, 60 (34.1%) had low femoral neck (FN) Z score, 72 (40.9%) had low total femur (TF) Z score, and 105 (59.6%) had low lumbar spine (LS) Z score. CD40 rs4810485 was found to be associated with reduced TF Z score with the CD40 rs4810485 T allele protecting against reduced TF Z score (OR = 0.40, 95% CI = 0.23-0.68, p = 0.0005). This association was confirmed in the multivariate logistic regression analysis (OR=0.31, 95% CI= 0.16-0.59, p=3.84 x 10₋₄). Moreover, median FN BMD was reduced among RA patients with CD40 rs4810485 GG genotype compared to RA patients harbouring CD40 rs4810485 TT and GT genotypes (0.788± 0.136 versus 0.826± 0.146g/cm², p=0.001). Conclusion: This study, for the first time ever, demonstrated an association between a CD40 genetic variant and SBL among patients with RA.

Keywords: rheumatoid arthritis, CD40 gene, bone mineral density, systemic bone loss, rs48104850

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Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

Abstract:

Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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Authors: Atlal El-Assaad

Abstract:

Viruses change with time through mutations and result in new variants that may persist or disappear. A Mutation refers to an actual change in the virus genetic sequence, and a variant is a viral genome that may contain one or more mutations. Critical mutations may cause the virus to be more transmissible, with high disease severity, and more vulnerable to diagnostics, therapeutics, and vaccines. Thus, variants carrying such mutations may increase the risk to human health and are considered variants of concern (VOC). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) - the contagious in humans, positive-sense single-stranded RNA virus that caused coronavirus disease 2019 (COVID-19) - has been studied thoroughly, and several variants were revealed across the world with their corresponding mutations. SARS-CoV-2 has four structural proteins, known as the S (spike), E (envelope), M (membrane), and N (nucleocapsid) proteins, but prior study and vaccines development focused on genetic mutations in the S protein due to its vital role in allowing the virus to attach and fuse with the membrane of a host cell. Specifically, subunit S1 catalyzes attachment, whereas subunit S2 mediates fusion. In this perspective, we studied all charged amino acid mutations of the SARS-CoV-2 viral spike protein S1 when bound to Antibody CC12.1 in a crystal structure and assessed the effect of different mutations. We generated all missense mutants of SARS-CoV-2 protein amino acids (AAs) within the SARS-CoV-2:CC12.1 complex model. To generate the family of mutants in each complex, we mutated every charged amino acid with all other charged amino acids (Lysine (K), Arginine (R), Glutamic Acid (E), and Aspartic Acid (D)) and studied the new binding of the complex after each mutation. We applied Poisson-Boltzmann electrostatic calculations feeding into free energy calculations to determine the effect of each mutation on binding. After analyzing our data, we identified charged amino acids keys for binding. Furthermore, we validated those findings against published experimental genetic data. Our results are the first to propose in silico potential life-threatening mutations of SARS-CoV-2 beyond the present mutations found in the five common variants found worldwide.

Keywords: SARS-CoV-2, variant, ionic amino acid, protein-protein interactions, missense mutation, AESOP

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