Search results for: genetic diagnosis

Authors: Tatsuya Iizuka, Takushi Kawamorita, Tomoya Handa, Hitoshi Ishikawa

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We report normative cone contrast sensitivity values and sensitivity and specificity values for a computer-based color vision test, the cone contrast test-HD (CCT-HD). The participants included 50 phakic eyes with normal color vision (NCV) and 20 dichromatic eyes (ten with protanopia and ten with deuteranopia). The CCT-HD was used to measure L, M, and S-CCT-HD scores (color vision deficiency, L-, M-cone logCS≦1.65, S-cone logCS≦0.425) to investigate the sensitivity and specificity of CCT-HD based on anomalous-type diagnosis with animalscope. The mean ± standard error L-, M-, S-cone logCS for protanopia were 0.90±0.04, 1.65±0.03, and 0.63±0.02, respectively; for deuteranopia 1.74±0.03, 1.31±0.03, and 0.61±0.06, respectively; and for age-matched NCV were 1.89±0.04, 1.84±0.04, and 0.60±0.03, respectively, with significant differences for each group except for S-CCT-HD (Bonferroni corrected α = 0.0167, p < 0.0167). The sensitivity and specificity of CCT-HD were 100% for protan and deutan in diagnosing abnormal types from 20 to 64 years of age, but the specificity decreased to 65% for protan and 55% for deutan in older persons > 65. CCT-HD is comparable to the diagnostic performance of the anomalous type in the anomaloscope for the 20-64-year-old age group. However, the results should be interpreted cautiously in those ≥ 65 years. They are more susceptible to acquired color vision deficiencies due to the yellowing of the crystalline lens and other factors.

Keywords: cone contrast test HD, color vision test, congenital color vision deficiency, red-green dichromacy, cone contrast sensitivity

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Authors: Le-Quyen Nguyen, Hoang Van Bui, Ngoc Thi Tran, Binh Thanh Le, Linus Olson, Thanh Quang Le

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Objective: We compared of outcomes between infected and non-infected COVID-19 pregnant at the largest obstetrics and gynecology hospital in southern Vietnam. Materials and Methods: A retrospective study was conducted at gestational age (GA) 28-42 weeks, who terminated pregnancy and had a real-time PCR test for SARS-CoV-2 at Tu Du Hospital. Demographic, clinical, laboratory, and epidemiological data were collected from hospital electronic-medical-records. Diagnosis and screening of SARS-CoV-2 used Real-time-PCR. Results: From July to October 2021, 9,246 pregnant with GA of 28-42 weeks were delivered, including 664 infected with COVID-19 and 8,582 non-infected. The cesarean section (CS) rates of pregnant with and without COVID-19 were 47.3% and 46.0%. At GA 32-34 weeks, the rate of CS with COVID-19 was 5.07 times higher than without. The rate of postpartum hemorrhage (PPH) and the Apgar score between these two groups were similar. The mortality rate of infected pregnants was 2.26%. Conclusions: COVID-19 infection increased the CS rate in the group of preterm pregnancies from 32 to less than 34 weeks. COVID-19 did not increase the risk of complications related to adverse pregnancy outcomes such as PPH, Apgar scores, the ratio of stillbirths, deaths due to malformation, and fetal deaths in labor.

Keywords: COVID-19, SARS-CoV-2, pregnancy, outcome, vietnam

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Authors: Angelis P. Barlampas

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Target: The (SARS-CoV-2) is still a threat. AI software could be useful, categorizing the disease into different severities and indicate the extent of the lesions. Materials and methods: AI is a new revolutionary technique, which uses powered computerized systems, to do what a human being does more rapidly, more easily, as accurate and diagnostically safe as the original medical report and, in certain circumstances, even better, saving time and helping the health system to overcome problems, such as work overload and human fatigue. Results: It will be given an effort to describe to the inexperienced reader (see figures), as simple as possible, how an artificial intelligence system diagnoses computed tomography pictures. First, the computerized machine learns the physiologic motives of lung parenchyma by being feeded with normal structured images of the lung tissue. Having being used to recognizing normal structures, it can then easily indentify the pathologic ones, as their images do not fit to known normal picture motives. It is the same way as when someone spends his free time in reading magazines with quizzes, such as <> and <>. General conclusion: The AI mimics the physiological processes of the human mind, but it does that more efficiently and rapidly and provides results in a few seconds, whereas an experienced radiologist needs many days to do that, or even worse, he is unable to accomplish such a huge task.

Keywords: covid-19, artificial intelligence, automated imaging, CT, chest imaging

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Authors: Sanaa Bardaweel

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Inorganic polyphosphate (poly P) is present in all living forms tested to date, from each of the three kingdoms of life. Studied mainly in prokaryotes, poly P and its associated enzymes are vital in diverse basic metabolism, in at least some structural functions and, notably, in stress responses. These plentiful and unrelated roles for poly P are probably the consequence of its presence in life-forms early in evolution. The genomes of many bacterial species, including pathogens, encode a homologue of a major poly P synthetic enzyme, poly P kinase 1 (PPK1). Genetic deletion of ppk1 results in reduced poly P levels and loss of pathogens virulence towards protozoa and animals. Thus far, no PPK1 homologue has been identified in higher-order eukaryotes and, therefore, PPK1 represents a novel target for chemotherapy. The idea of the current study is to purify the PPK1 from Escherichia coli to homogeneity in order to study the effect of active site point mutations on PPK1 catalysis via the application of site-directed mutagenesis strategy. The knowledge obtained about the active site of PPK1 will be utilized to characterize the catalytic and kinetic mechanism of PPK1 with model substrates. Comprehensive understanding of the enzyme kinetic mechanism and catalysis will be used to design and screen a library of synthetic compounds for potential discovery of selective PPK1-inhibitors.

Keywords: antimicobial, Escherichia coli, inorganic polyphosphate, PPK1-inhibitors

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Authors: E. Verduci, I. Aguglia, A. Filocamo, I. Macrì, R. Scala, A. Vinci

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One of the first indicator of autism spectrum disorder (ASD) is a decreasing tendency or failure to respond to name (RTN) call. Despite RTN is important for social and language developmentand it’s a common target for early interventions for children with ASD, research on specific treatments is insufficient and does not consider the importance of the discrimination between the own name and other names. The purpose of the current study was to replicate an assessment and treatment model proposed by Conine et al. (2020) to teach children with ASD to respond to their own name and to not respond to other names (RTO). The model includes three different phases (baseline/screening, treatment, and generalization), and itgradually introduces the different treatment components, starting with the most naturalistic ones (such as social interaction) and adding more intrusive components (such as tangible reinforcements, prompt and fading procedures) if necessary. The participants of this study were three children with ASD diagnosis: D. (5 years old) with a low frequency of RTN, M. (7 years old) with a RTN unstable and no ability of discrimination between his name and other names, S. (3 years old) with a strong RTN but a constant response to other names. Moreover, the treatment for D. and M. consisted of social and tangible reinforcements (treatment T1), for S. the purpose of the treatment was to teach the discrimination between his name and the others. For all participants, results suggest the efficacy of the model to acquire the ability to selectively respond to the own name and the generalization of the behavior with other people and settings.

Keywords: response to name, autism spectrum disorder, progressive training, ABA

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Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

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Dilated cardiomyopathy (DCM) is a severe cardiovascular disorder characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility often leading to chronic heart failure. Recently, a genome-wide association studies (GWASs) on DCM indicate that the ZBTB17 gene rs10927875 single nucleotide polymorphism is associated with DCM. The aim of the study was to identify the distribution of ZBTB17 gene rs10927875 polymorphism in 50 Slovak patients with DCM and 80 healthy control subjects using the Custom Taqman®SNP Genotyping assays. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. The mean age of patients with DCM was 52.9±6.3 years; the mean age of individuals in control group was 50.3±8.9 years. The distribution of investigated genotypes of rs10927875 polymorphism within ZBTB17 gene in the cohort of Slovak patients with DCM was as follows: CC (38.8%), CT (55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT (5.0%). The risk allele T was more common among the patients with dilated cardiomyopathy than in normal controls (33.7% versus 30.6%). The differences in genotype or allele frequencies of ZBTB17 gene rs10927875 polymorphism were not statistically significant (p=0.6908; p=0.6098). The results of this study suggest that ZBTB17 gene rs10927875 polymorphism may be a risk factor for susceptibility to DCM in Slovak patients with DCM. Studies of numerous files and additional functional investigations are needed to fully understand the roles of genetic associations.

Keywords: ZBTB17 gene, rs10927875 polymorphism, dilated cardiomyopathy, cardiovascular disorder

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Authors: Wissam Saliba, Mandy Nicholson

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Secretory carcinoma (SC) is a rare type of salivary gland cancer. It was first realized as a distinct type of malignancy in 2010and wasinitially termed “mammary analogue secretory carcinoma” because of similarities with secretory breast cancer. The name was later changed to SC. Most SCs originate in parotid glands, and most harbour a rare gene mutation: ETV6-NTRK3. This mutation is rare in common cancers and common in rare cancers; it is present in most secretory carcinomas. Disease outcomes for SC are usually described as favourable as many cases of SC are lowgrade (LG), and cancer growth is slow. In early stages, localized therapy is usually indicated (surgery and/or radiation). Despitea favourable prognosis, a sub-set of casescan be much more aggressive.These cases tend to be of high-grade(HG).HG casesare associated with a poorer prognosis.Management of such cases can be challenging due to limited evidence for effective systemic therapy options. This case report describes the clinical management of a 46-year-oldmale patient with a unique case of SC. He was initially diagnosed with a low/intermediate grade carcinoma of the left parotid gland in 2009; he was treated with surgery and adjuvant radiation. Surgical pathology favoured primary salivary adenocarcinoma, and 2 lymph nodes were positive for malignancy. SC was not yet realized as a distinct type of cancerat the time of diagnosis, and the pathology reportvalidated this gap by stating that the specimen lacked features of the defined types of salivary carcinoma.Slow-growing pulmonary nodules were identified in 2017. In 2020, approximately 11 years after the initial diagnosis, the patient presented with malignant pleural effusion. Pathology from a pleural biopsy was consistent with metastatic poorly differentiated cancer of likely parotid origin, likely mammary analogue secretory carcinoma. The specimen was sent for Next Generation Sequencing (NGS); ETV6-NTRK3 gene fusion was confirmed, and systemic therapy was initiated.One cycle ofcarboplatin/paclitaxel was given in June 2020. He was switched to Larotrectinib (NTRK inhibitor (NTRKi)) later that month. Larotrectinib continued for approximately 9 months, with discontinuation in March 2021 due to disease progression. A second-generation NTRKi (Selitrectinib) was accessed and prescribedthrough a single patient study. Selitrectinib was well tolerated. The patient experienced a complete radiological response within~4 months. Disease progression occurred once again in October 2021. Progression was slow, and Selitrectinib continuedwhile the medical team performed a thorough search for additional treatment options. In January 2022, a liver lesion biopsy was performed, and NGS showed an NTRKG623R solvent-front resistance mutation. Various treatment pathways were considered. The patient pursuedanother investigational NTRKi through a clinical trial, and Selitrectinib was discontinued in July 2022. Excellent performance status was maintained throughout the entire course of treatment.It can be concluded that NTRK inhibitors provided satisfactory treatment efficacy and tolerance for this patient with high-grade transformation and NTRK gene fusion cancer. In the future, more clinical research is needed on systemic treatment options for high-grade transformations in NTRK gene fusion SCs.

Keywords: secretory carcinoma, high-grade transformations, NTRK gene fusion, NTRK inhibitor

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Authors: Sandip Sadhukhan, Arpita Sarkar, Debprasad Sinha, Goutam Kumar Ghorai, Gautam Sarkar, Ashis K. Dhara

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Accurate segmentation of the optic disc is very important for computer-aided diagnosis of several ocular diseases such as glaucoma, diabetic retinopathy, and hypertensive retinopathy. The paper presents an accurate and fast optic disc detection and segmentation method using an attention based fully convolutional network. The network is trained from scratch using the fundus images of extended MESSIDOR database and the trained model is used for segmentation of optic disc. The false positives are removed based on morphological operation and shape features. The result is evaluated using three-fold cross-validation on six public fundus image databases such as DIARETDB0, DIARETDB1, DRIVE, AV-INSPIRE, CHASE DB1 and MESSIDOR. The attention based fully convolutional network is robust and effective for detection and segmentation of optic disc in the images affected by diabetic retinopathy and it outperforms existing techniques.

Keywords: attention-based fully convolutional network, optic disc detection and segmentation, retinal fundus image, screening of ocular diseases

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Authors: Mochammad Indra Permana, Andhiani Sharfina Arnellya, Dika Pramita Destiani, Budhi Prihartanto

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Cardiovascular disease is the cause of the highest mortality rates in the world. The number of cardiovascular disease patients is increasing every year. Data obtained from World Health Organization (WHO) that 17,5 million people died from this disease. The condition of cardiovascular diseases such as atrial fibrillation, myocardial infarction, venous thromboembolism, and several other conditions need anticoagulant therapy. Results of the anticoagulant therapy are measured not only by the effectiveness of International Normalized Ratio (INR) value but also by the quality of life of the patients. The purpose of this study was to determine the quality of life of patients on oral anticoagulant therapy in outpatient cardiac department Dr. Hasan Sadikin central general hospital, Bandung, Indonesia. This is a cross-sectional study with collecting data from the quality of life questionnaire and medical record of the patients. The results of this study showed that 28 patients (46,7%) had a good quality of life, 30 patients (50%) had a moderate quality of life, and 2 patients (3,3%) had a poor quality of life with no significant differences in quality of life based on age, gender, diagnosis, and duration of drug use.

Keywords: anticoagulant, cardiovascular diseases, INR, quality of life

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Authors: Syed M. Shahid, Rozeena Shaikh, Syeda N. Nawab, Abid Azhar

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Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy and foot infections. Pathogenesis of diabetic nephropathy (DN) is implicated by the polymorphisms in genes encoding the specific components of renin angiotensin aldosterone system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and angiotensin converting enzyme (ACE) genes. This study was designed to explore the possible association of AG (M268T) polymorphism in the patients of diabetes and nephropathy in Pakistan. Study subjects included 100 controls, 260 diabetic patients without renal insufficiency and 190 diabetic nephropathy patients with persistent albuminuria. Fasting blood samples were collected from all the subjects after getting institutional ethical approval and informed consent. The biochemical estimations, PCR amplification and direct sequencing for the specific region of AGT gene was carried out. A significantly high frequency of TT genotype and T allele of AGT (M268T) was observed in the patients of diabetes with nephropathy as compared to controls and diabetic patients without any known renal impairment. The TT genotype and T allele of AGT (M268T) polymorphism may be considered as a genetic risk factor for the development and progression of nephropathy in diabetes. Further cross sectional population studies would be of help to establish and confirm the observed possible association of AGT gene variations with development of nephropathy in diabetes.

Keywords: RAAS, AGT (M268T), diabetes, nephropathy

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Authors: Rahul Srivastava, Priti Pundir, Y. R. Sood, Rajnish Shrivastava

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For the interpretation of the signatures of sweep frequency response analysis(SFRA) of transformer different types of statistical techniques serves as an effective tool for doing either phase to phase comparison or sister unit comparison. In this paper with the discussion on SFRA several statistics techniques like cross correlation coefficient (CCF), root square error (RSQ), comparative standard deviation (CSD), Absolute difference, mean square error(MSE),Min-Max ratio(MM) are presented through several case studies. These methods require sample data size and spot frequencies of SFRA signatures that are being compared. The techniques used are based on power signal processing tools that can simplify result and limits can be created for the severity of the fault occurring in the transformer due to several short circuit forces or due to ageing. The advantages of using statistics techniques for analyzing of SFRA result are being indicated through several case studies and hence the results are obtained which determines the state of the transformer.

Keywords: absolute difference (DABS), cross correlation coefficient (CCF), mean square error (MSE), min-max ratio (MM-ratio), root square error (RSQ), standard deviation (CSD), sweep frequency response analysis (SFRA)

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Authors: Djallel Bouamama, Yasser R. Haddadi

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Accurate brain tumor segmentation is crucial for diagnosis and treatment planning, yet it remains a challenging task due to the variability in tumor shapes and intensities. This paper introduces a distinct approach to brain tumor image segmentation by leveraging an advanced architecture known as Mamba-Unet. Building on the well-established U-Net framework, Mamba-Unet incorporates distinct design enhancements to improve segmentation performance. Our proposed method integrates a multi-scale attention mechanism and a hybrid loss function to effectively capture fine-grained details and contextual information in brain MRI scans. We demonstrate that Mamba-Unet significantly enhances segmentation accuracy compared to conventional U-Net models by utilizing a comprehensive dataset of annotated brain MRI scans. Quantitative evaluations reveal that Mamba-Unet surpasses traditional U-Net architectures and other contemporary segmentation models regarding Dice coefficient, sensitivity, and specificity. The improvements are attributed to the method's ability to manage class imbalance better and resolve complex tumor boundaries. This work advances the state-of-the-art in brain tumor segmentation and holds promise for improving clinical workflows and patient outcomes through more precise and reliable tumor detection.

Keywords: brain tumor classification, image segmentation, CNN, U-NET

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Authors: Boonsri Lertviriyachit

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The objective of this research is to investigate the treatment of psoriasis through Thai traditional medicine in the selected areas of 2 east coast provinces; Samudprakarn Province and Chantaburi Province. The informants in this study were two famous and accepted Thai traditional doctors, who have more than 20 year experiences. Data were collected by in depth interviews and participant-observation method. The research instrument included unstructured interviews, camera, and cassette tape to collect data analyzed by descriptive statistics. The results revealed that the 2 Thai traditional doctors were 54 and 85 years old with 25 and 45 years of treatment experiences. The knowledge of Thai traditional medicine was transferred from generations to generations in the family. The learning process was through close observation as an apprentice with the experience ones and assisted them in collecting herbs and learning by handling real case in individual situations. Before being doctors, they had to take exam to get the Thai traditional medical certificate. Knowledge of being Thai traditional doctors included diagnosis and find to the suitable way of treatment. They have to look into disorder physical fundamental factors such as blood circulation, lymph, emotion, and food consumption habit. It is important that the treatment needs to focus on balancing the fundamental factors and to observe contraindication.

Keywords: Thai traditional medicine, psoriasis, Samudprakarn Province, Chantaburi Province

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Authors: Ramy Kamel Fekrey Gadelrab

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Textile sensors have gained a lot of interest in recent years as it is instrumental in monitoring physiological and environmental changes, for a better diagnosis that can be useful in various fields like medical textiles, sports textiles, protective textiles, agro textiles, and geo-textiles. Moreover, with the development of flexible textile-based wearable sensors, the functionality of smart clothing is augmented for a more improved user experience when it comes to technical textiles. In this context, conductive textiles using new composites and nanomaterials are being developed while considering its compatibility with the textile manufacturing processes. This review aims to provide a comprehensive and detailed overview of the contemporary advancements in textile-based wearable physical sensors, used in the field of medical, security, surveillance, and protection, from a global perspective. The methodology used is through analysing various examples of integration of wearable textile-based sensors with clothing for daily use, keeping in mind the technological advances in the same. By comparing various case studies, it come across various challenges textile sensors, in terms of stability, the comfort of movement, and reliable sensing components to enable accurate measurements, in spite of progress in the engineering of the wearable. Addressing such concerns is critical for the future success of wearable sensors.

Keywords: nanoparticles, enzymes, immobilization, textilesconductive yarn, e-textiles, smart textiles, thermal analysisflexible textile-based wearable sensors, contemporary advancements, conductive textiles, body conformal design

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Authors: A. Abdullah, N. ul Haq, A. Nasim

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Objectives: This study was aimed to assess the knowledge, attitude, and practice of anemia among females attending Bolan Medical Complex Quetta, Balochistan. Methods: A quantitative cross-sectional study by adopting a questionnaire containing 3 dimensions knowledge (15 questions), Attitude (5 questions), and Practice (4 questions) for the assessment of knowledge, attitude and practice of anemia among females was conducted. All females attending Bolan Medical Complex Quetta, Balochistan were approached for the study. Descriptive statistics were used to describe demographic and KAP related characteristics of the females regarding anemia.All data were analyzed by using SPSS (Statistical Package of Social Sciences) software program version 20.0. Results: Data was collected from six hundred and thirteen (613) participants. Majority of the respondents (n=180, 29.4%) were categorized in the age group of 29-33 years. Participants had knowledge regarding anemia was (n= 564, 91.9%), and attitude was (n= 516, 84.0%) whereas practice was (n=437, 71.3%). Multitative analysis revealed the negative correlation between Attitude-practice (P= -0.040) and a significant figure (0.001) was present between knowledge-attitude. Occupation and reason of diagnosis were not predictive of better KAP. Conclusions: Knowledge, attitude, and practice of Anemia shows a satisfactory response in this study. Furthermore, study finding implicates the need for health promotion among females. Improving nutritional knowledge and information related Anemia can result in better control and management.

Keywords: anemia, knowledge attitude and practice, females, college

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Authors: Sundaresan Sivapatham, B. Prabhu

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Cancer results from a multistage, multi-mechanism carcinogenesis process that involves mutagenic, cell death and epigenetic mechanisms, during the three distinguishable but closely allied stages: initiation, promotion, and progression. Chemoprevention is promising in the realm of cancer prevention and it has been shown to reduce the risk of development of carcinoma in highly susceptible individuals such as those with known genetic mutations or high level of risk factors. The present study is aimed at the need of early detection of bladder cancer in order to improve performance in the treatment of this disease. Consumption of certain natural products like DIM is associated with a reduction in cancer incidence in humans. The study showed the protective effects of Diindolylmethane in N-Butyl-N-(4-hydroxybutyl) nitrosamine treated rats. Results of the study had shown the changes in the tumor markers, biomarkers and histopathological alterations in experimental rats when compared to control rats. The protective effects of DIM were shown from the results of cell proliferation, apoptotic markers and histopathological findings when compared with experimental control animals. Hence, our results speculate that the tumor markers, apoptotic markers, histopathological changes and cell proliferation index measured as PCNA serves as an indicator suggestive of protective effects of DIM in BBN induced urinary bladder carcinogenesis.

Keywords: bladder cancer, N-Butyl-N-(4-hydroxybutyl) nitrosamine, diindolylmethane, histopathology

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Authors: Aminah Muchdar, Nuraeni, Eddy

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The aims of the research are: (1) to verify the cropsyst plant model of experimental data in the field of soybean plants and (2) to predict planting time and potential yield soybean plant with the use of cropsyst model. This research is divided into several stages: (1) first calibration stage which conducted in the field from June until September 2015.(2) application models stage, where the data obtained from calibration in the field will be included in cropsyst models. The required data models are climate data, ground data/soil data,also crop genetic data. The relationship between the obtained result in field with simulation cropsyst model indicated by Efficiency Index (EF) which the value is 0,939.That is showing that cropsyst model is well used. From the calculation result RRMSE which the value is 1,922%.That is showing that comparative fault prediction results from simulation with result obtained in the field is 1,92%. The conclusion has obtained that the prediction of soybean planting time cropsyst based models that have been made valid for use. and the appropriate planting time for planting soybeans mainly on rain-fed land is at the end of the rainy season, in which the above study first planting time (June 2, 2015) which gives the highest production, because at that time there was still some rain. Tanggamus varieties more resistant to slow planting time cause the percentage decrease in the yield of each decade is lower than the average of all varieties.

Keywords: soybean, Cropsyst, calibration, efficiency Index, RRMSE

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Authors: Amal Baalash, Shazia Mukaddam, M. Adel El-Sayed

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Background: Several studies have suggested non-skeletal effects of vitamin D and linked its deficiency with features of many chronic conditions. In this study, We aimed to investigate the relationship between vitamin D levels and different components of the metabolic syndrome in male and female Saudi patients. Methods: the study population consisted of 111 patients with metabolic syndrome (71 females and 40 males) aged 37-63 years enrolled from patients attending the internal medicine outpatient clinics of King Fahad Medical City. The parameters for diagnosis of the metabolic syndrome according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) were measured, which included waist circumference, TG, HDL-C, Blood pressure and fasting blood glucose (FBS). The association between each parameter and serum 25-hydroxyvitamin D (25(OH) D) was studied in both male and female patients separately. Results: in male patients, 25(OH) D levels were inversely associated with FBS and TG and positively associated with HDL-C and diastolic blood pressure, With highest association with the HDL-C levels. On the other hand 25(OH) D, Showed no significant association with any of the measured metabolic syndrome parameters in female patients. Conclusion: in Saudi patients with metabolic syndrome, the association between the parameters of metabolic syndrome and the levels of 25 (OH) D is more pronounced in males rather than females.

Keywords: gender, metabolic syndrome, Saudi patients, vitamin D

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Authors: Mrinmoy Majumder, Apu Kumar Saha

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The ever-increasing human population and its demand for energy is placing stress upon conventional energy sources; and as demand for power continues to outstrip supply, the need to optimize energy distribution and utilization is emerging as an important focus for various stakeholders. The distribution of available energy must be achieved in such a way that the needs of the consumer are satisfied. However, if the availability of resources is not sufficient to satisfy consumer demand, it is necessary to find a method to select consumers based on factors such as their socio-economic or environmental impacts. Weighting consumer types in this way can help separate them based on their relative importance, and cognitive optimization of the allocation process can then be carried out so that, even on days of particularly scarce supply, the socio-economic impacts of not satisfying the needs of consumers can be minimized. In this context, the present study utilized fuzzy logic to assign weightage to different types of consumers based at an educational campus in India, and then established optimal allocation by applying the non-linear mapping capability of neuro-genetic algorithms. The outputs of the algorithms were compared with similar outputs from particle swarm optimization and differential evolution algorithms. The results of the study demonstrate an option for the optimal utilization of available energy based on the socio-economic importance of consumers.

Keywords: power allocation, optimization problem, neural networks, environmental and ecological engineering

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Authors: Omer Abdalla Ishag, Magdi Baker Amien

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Physicians used the stethoscope for listening patient heart sounds in order to make a diagnosis. However, the determination of heart conditions by acoustic stethoscope is a difficult task so it requires special training of medical staff. This study developed an accurate model for analyzing the phonocardiograph signal based on PC and DSP processor. The system has been realized into two phases; offline and real time phase. In offline phase, 30 cases of heart sounds files were collected from medical students and doctor's world website. For experimental phase (real time), an electronic stethoscope has been designed, implemented and recorded signals from 30 volunteers, 17 were normal cases and 13 were various pathologies cases, these acquired 30 signals were preprocessed using an adaptive filter to remove lung sounds. The background noise has been removed from both offline and real data, using wavelet transform, then graphical and statistics features vector elements were extracted, finally a look-up table was used for classification heart sounds cases. The obtained results of the implemented system showed accuracy of 90%, 80% and sensitivity of 87.5%, 82.4% for offline data, and real data respectively. The whole system has been designed on TMS320VC5509a DSP Platform.

Keywords: code composer studio, heart sounds, phonocardiograph, wavelet transform

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Authors: Katarzyna Lubecka, Kirsty Flower, Megan Beetch, Lucinda Kurzava, Hannah Buvala, Samer Gawrieh, Suthat Liangpunsakul, Tracy Gonzalez, George McCabe, Naga Chalasani, James M. Flanagan, Barbara Stefanska

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Hepatocellular carcinoma (HCC), the most prevalent type of primary liver cancer, is the second leading cause of cancer death worldwide. Late onset of clinical symptoms in HCC results in late diagnosis and poor disease outcome. Approximately 85% of individuals with HCC have underlying liver cirrhosis. However, not all cirrhotic patients develop cancer. Reliable early detection biomarkers that can distinguish cirrhotic patients who will develop cancer from those who will not are urgently needed and could increase the cure rate from 5% to 80%. We used Illumina-450K microarray to test whether blood DNA, an easily accessible source of DNA, bear site-specific changes in DNA methylation in response to HCC before diagnosis with conventional tools (pre-diagnostic). Top 11 differentially methylated sites were selected for validation by pyrosequencing. The diagnostic potential of the 11 pyrosequenced probes was tested in blood samples from a prospective cohort of cirrhotic patients. We identified 971 differentially methylated CpG sites in pre-diagnostic HCC cases as compared with healthy controls (P < 0.05, paired Wilcoxon test, ICC ≥ 0.5). Nearly 76% of differentially methylated CpG sites showed lower levels of methylation in cases vs. controls (P = 2.973E-11, Wilcoxon test). Classification of the CpG sites according to their location relative to CpG islands and transcription start site revealed that those hypomethylated loci are located in regulatory regions important for gene transcription such as CpG island shores, promoters, and 5’UTR at higher frequency than hypermethylated sites. Among 735 CpG sites hypomethylated in cases vs. controls, 482 sites were assigned to gene coding regions whereas 236 hypermethylated sites corresponded to 160 genes. Bioinformatics analysis using GO, KEGG and DAVID knowledgebase indicate that differentially methylated CpG sites are located in genes associated with functions that are essential for gene transcription, cell adhesion, cell migration, and regulation of signal transduction pathways. Taking into account the magnitude of the difference, statistical significance, location, and consistency across the majority of matched pairs case-control, we selected 11 CpG loci corresponding to 10 genes for further validation by pyrosequencing. We established that methylation of CpG sites within 5 out of those 10 genes distinguish cirrhotic patients who subsequently developed HCC from those who stayed cancer free (cirrhotic controls), demonstrating potential as biomarkers of early detection in populations at risk. The best predictive value was detected for CpGs located within BARD1 (AUC=0.70, asymptotic significance ˂0.01). Using an additive logistic regression model, we further showed that 9 CpG loci within those 5 genes, that were covered in pyrosequenced probes, constitute a panel with high diagnostic accuracy (AUC=0.887; 95% CI:0.80-0.98). The panel was able to distinguish pre-diagnostic cases from cirrhotic controls free of cancer with 88% sensitivity at 70% specificity. Using blood as a minimally invasive material and pyrosequencing as a straightforward quantitative method, the established biomarker panel has high potential to be developed into a routine clinical test after validation in larger cohorts. This study was supported by Showalter Trust, American Cancer Society (IRG#14-190-56), and Purdue Center for Cancer Research (P30 CA023168) granted to BS.

Keywords: biomarker, DNA methylation, early detection, hepatocellular carcinoma

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Authors: Ljubica Milanović Glavan, Vesna Bosilj Vukšić, Dalia Suša

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In order to gain a competitive advantage, many companies are focusing on reorganization of their business processes and implementing process-based management. In this context, assessing process performance is essential because it enables individuals and groups to assess where they stand in comparison to their competitors. In this paper, it is argued that process performance measurement is a necessity for a modern process-oriented company and it should be supported by a holistic process performance measurement system. It seems very unlikely that a universal set of performance indicators can be applied successfully to all business processes. Thus, performance indicators must be process-specific and have to be derived from both the strategic enterprise-wide goals and the process goals. Based on the extensive literature review and interviews conducted in Croatian company a conceptual framework for process performance measurement system was developed. The main objective of such system is to help process managers by providing comprehensive and timely information on the performance of business processes. This information can be used to communicate goals and current performance of a business process directly to the process team, to improve resource allocation and process output regarding quantity and quality, to give early warning signals, to make a diagnosis of the weaknesses of a business process, to decide whether corrective actions are needed and to assess the impact of actions taken.

Keywords: Croatia, key performance indicators, performance measurement, process performance

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Authors: Sat Sharma, Antonella Conflitti, Hilary Reiter

Abstract:

Introduction: The study's purpose was to assess the efficacy of the oral appliance device O2Vent Optima + ExVent as compared to Optima in the treatment of OSA. Methods: A prospective, open-label study conducted at 3 sites included subjects with mild to moderate OSA (AHI ≥ 5 and ≤ 30). Screening Phase: A diagnostic in-lab PSG study was performed to confirm a diagnosis of mild to moderate OSA. Treatment I: Subjects used O2Vent Optima for 6 weeks and underwent an in-lab PSG sleep night while using the O2Vent Optima. Treatment II: Subjects used O2Vent Optima + ExVent for 6 weeks and underwent an in-lab PSG sleep night while using the O2Vent Optima + ExVent Primary Effectiveness Measure: Change in AHI between baseline vs. O2Vent Optima MAD vs. O2Vent Optima + ExVent. Results: Treatment with Optima, Optima + ExVent reduced AHI from 22.5±6.4/hr to 12.6±4.5/hr to 5.9±2.7 (p< 0.005 baseline vs. Optima and Optima + ExVent; p<0.05 Optima MAD vs. Optima + ExVent). The average reduction in AHI with Optima was 43%, and with Optima + ExVent was 72%. The lowest oxygen during sleep increased from 84.6±2.7% to 88.6±2.9% to 91.6±3.2% (p< 0.005 baseline vs. Optima and Optima + ExVent; p<0.05 Optima vs. Optima + ExVent). During the trial, patients on treatment with Optima and Optima + ExVent demonstrated no excessive adverse events or device malfunction. Conclusion: Treatment with O2Vent Optima and O2Vent Optima + ExVent significantly improved OSA compared to the baseline. An even greater benefit was observed with the addition of ExVent to the Optima in mild to moderate OSA.

Keywords: oral appliance, O2Vent, sleep dentistry, sleep apnea

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Authors: Uzma Ayaz, Sanam Bashir, Shahid Iqbal Awan, Muhammad Ilyas, Muhammad Fareed Khan

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Drought stress directly affects growth along with the productivity of plants by altering plant water status. Sunflower (Helianthus annuus L.), an oilseed crop, is adversely affected by abiotic stresses. The present study was carried out to characterize the genetic variability for seedling and morpho-physiological parameters in different sunflower genotypes under water-stressed conditions. A total of twenty-seven genotypes, including two hybrids, eight advanced lines and seventeen accessions of sunflower (Helianthus annuus L.) were tested against drought stress at Seedling stages by Polyethylene glycol (PEG). Significant means were calculated among traits using analysis of variance (ANOVA) whereas, correlation and principal component analysis also confirmed that germination percentage, root length, shoot length, chlorophyll content, stomatal frequency are positively linked with each other hence, these traits were responsible for most of the variation among genotypes. The cluster analysis results showed that genotypes Ausun, line-3, line-2, and 17578, line-1, line-7, line-6 and 17562 as more diverse among all the genotypes. These most divergent genotypes could be utilized in the development of drought-tolerant inbreed lines which could be subsequently used in future heterosis breeding programs.

Keywords: sunflower, drought, stress, polyethylene- glycol, screening

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Authors: Guy Rubin, Ravit Shay, Nimrod Rozen

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The accuracy of a diagnostic test used to classify a patient as having disease or being disease-free is a valuable piece of information to be used by the physician when making treatment decisions. Finger laceration, suspected to have nerve injury is a challenging decision for the treating surgeon. The purpose of this study was to evaluate the sensitivity, specificity and predictive values of six clinical tests in the diagnosis of digital nerve injury. The six clinical tests included light touch, pin prick, static and dynamic 2-point discrimination, Semmes Weinstein monofilament and wrinkle test. Data comparing pre-surgery examination with post-surgery results of 42 patients with 52 digital nerve injury was evaluated. The subjective examinations, light touch, pin prick, static and dynamic 2-point discrimination and Semmes-Weinstein monofilament were not sensitive (57.6, 69.7, 42.4, 40 and 66.8% respectively) and specific (36.8, 36.8, 47.4, 42.1 and 31.6% respectively). Wrinkle test, the only objective examination, was the most sensitive (78.1%) and specific (55.6%). This result gives no pre-operative examination the ability to predict the result of explorative surgery.

Keywords: digital nerve, injury, nerve examination, Semmes-Weinstein monofilamen, sensitivity, specificity, two point discrimination, wrinkle test

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Authors: M. Malekian, M. E. Heydari, M. Irani Estyar

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Human papillomavirus (HPV) is one of the most common sexually transmitted infection, which may lead to cervical cancer as the main cause of it. With early diagnosis and treatment in health care services, cervical cancer and its complications are considered to be preventable. This study was aimed to compare the efficiency, sensitivity, and specificity of Pap smear and polymerase chain reaction (PCR) in detecting HPV. A literature search was performed in Google Scholar, PubMed and SID databases using the keywords 'human papillomavirus', 'pap smear' and 'polymerase change reaction' to identify studies comparing Pap smear and PCR methods for the detection. No restrictions were considered.10 studies were included in this review. All samples that were positive by pop smear were also positive by PCR. However, there were positive samples detected by PCR which was negative by pop smear and in all studies, many positive samples were missed by pop smear technique. Although The Pap smear had high specificity, PCR based HPV detection was more sensitive method and had the highest sensitivity. In order to promote the quality of detection and high achievement of the maximum results, PCR diagnostic methods in addition to the Pap smear are needed and Pap smear method should be combined with PCR techniques according to the high error rate of Pap smear in detection.

Keywords: human papillomavirus, cervical cancer, pap smear, polymerase chain reaction

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Authors: Sagarjyoti Roy

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Dengue is an arboviral infection, belonging to family flaviviridae, comprising of four serotypes; DENV1, DENV2, DENV3 and DENV4. All four serotypes are capable of causing full-spectrum of clinical features, ranging from self-limiting fever to severe dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS). Complications may affect any organ system, including those involving gastrointestinal system and serositis. We report a case, of a 28 years, non-alcoholic male, presenting with a 7 day history of fever and malaise followed by abdominal pain and distension, from 4th day of fever. He was admitted in medicine department of RG KAR medical college hospital. Dengue fever was confirmed by NS1 and dengue IgM positivity. Platelet count was 30,000/cc (1.5- 4 lac/cc) and haematocrit was 52% (38- 50% for men). Clinicoradiological findings revealed bilateral pleural effusion, ascites and splenomegaly. Ascitic fluid was hemorrhagic in nature, with a high protein and RBC content. Liver function tests revealed mild transaminitis with normal coagulation profile. Patient was managed conservatively. A diagnosis of dengue fever complicated by serositis and spontaneous haemoperitoneum was made. The symptoms subsided after a hospital stay of 10 days. The case highlights haemorrhage into peritoneal cavity as a possible complication of dengue fever. Although a definite explanation requires more detailed studies, platelet or endothelial cell dysfunction might be contributory.

Keywords: ascites, dengue, haemoperitoneum, serositis

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Authors: Reza Dinarvand, Mahdi Sadeghian, Somaye Sadeghian

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Prediction of the ultimate bearing capacity of piles (Qu) is one of the basic issues in geotechnical engineering. So far, several methods have been used to estimate Qu, including the recently developed artificial intelligence methods. In recent years, optimization algorithms have been used to minimize artificial network errors, such as colony algorithms, genetic algorithms, imperialist competitive algorithms, and so on. In the present research, artificial neural networks based on colonial competition algorithm (ANN-ICA) were used, and their results were compared with other methods. The results of laboratory tests of short piles in clayey soils with parameters such as pile diameter, pile buried length, eccentricity of load and undrained shear resistance of soil were used for modeling and evaluation. The results showed that ICA-based artificial neural networks predicted lateral bearing capacity of short piles with a correlation coefficient of 0.9865 for training data and 0.975 for test data. Furthermore, the results of the model indicated the superiority of ICA-based artificial neural networks compared to back-propagation artificial neural networks as well as the Broms and Hansen methods.

Keywords: artificial neural network, clayey soil, imperialist competition algorithm, lateral bearing capacity, short pile

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Authors: Naso Isaiah Thanavisuth

Abstract:

Medical cannabis can be used for treatment including pain, multiple sclerosis, Parkinson's disease, and cancer. However, medical cannabis leads to adverse effects (AEs), which is delta-9-tetrahydrocannabinol (THC). In previous studies, the major of THC metabolism enzymes are CYP2C9. Especially, the variation of CYP2C9 gene consist of CYP2C9*2 on exon 3 and CYP2C9*3 on exon 7 to decrease enzyme activity. Notwithstanding, there is no data describing whether the variant of CYP2C9 genes are apharmacogenetics marker for the prediction of THC-induced AEs in Thai patients. We want to investigate the association between CYP2C9 gene and THC-induced AEs in Thai patients. We enrolled 39 Thai patients with medical cannabis treatment who were classified by clinical data. The CYP2C9*2 and *3 genotyping were conducted using the TaqMan real time PCR assay. All Thai patients who received the medical cannabis consist of twenty-four (61.54%) patients were female, and fifteen (38.46%) were male, with age range 27- 87 years. Moreover, the most AEs in Thai patients who were treated with medical cannabis between cases and controls were tachycardia, arrhythmia, dry mouth, and nausea. Particularly, thirteen (72.22%) medical cannabis-induced AEs were female and age range 33 – 69 years. In this study, none of the medical cannabis groups carried CYP2C9*2 variants in Thai patients. The CYP2C9*3 variants (*1/*3, intermediate metabolizer, IM) and (*3/*3, poor metabolizer, PM) were found, three of thirty-nine (7.69%) and one of thirty-nine (2.56%), respectively. Although, our results indicate that there is no found the CYP2C9*2. However, the variation of CYP2C9 allele might serve as a pharmacogenetics marker for screening before initiating the therapy with medical cannabis for the prevention of medical cannabis-induced AEs.

Keywords: CYP2C9, medical cannabis, adverse effects, THC, P450

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Authors: Ana Katrina C. Longos, Jarungchai Anton S. Vatanagul

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Objectives: To present a case of two Filipino male siblings initially seen with parkinsonism and eventually with dystonia and to present botulinum A toxin as part of the treatment for X-linked dystonia parkinsonism in Cebu City. Discussion: A 54 year old man presented initially with parkinsonian symptoms and later developed oromandibular and truncal dystonia. Further history revealed that he had an older brother who also presented with the same symptoms. Neuroimaging done on both patients revealed CVD infarcts in the pons and corona radiata respectively which where were not compatible with their symptoms. Family history revealed that their mother was originally from Panay and a diagnosis of X-linked dystonia parkinsonism (XDP) was made. Both patients were able to receive botulinum A toxin injections which provided temporary relief of symptoms. Conclusion: XDP was considered in 2 Filipino male siblings who presented with oromandibular dystonia, truncal dystonia, shuffling gait, resting tremors with ancestry from Panay on the maternal side. There is no cure for XDP, only symptomatic treatment. Until recently, only oral chemotherapy was available in Cebu. Botulinum A toxin injection done in both patients afforded temporary resolution of symptoms.

Keywords: XDP, dystonia of Panay, lubag, dystonia parkinsonism, botulinum a toxin

Procedia PDF Downloads 498