Search results for: genetic diagnosis

Authors: Ian Omung'a

Abstract:

Breast cancer remains to be one of the deadliest cancers for women worldwide, with the risk of developing tumors being as high as 50 percent in Sub-Saharan African countries like Kenya. With as many as 42 percent of these cases set to be diagnosed late when cancer has metastasized and or the prognosis has become terminal, Full Field Digital [FFD] Mammography remains an effective screening technique that leads to early detection where in most cases, successful interventions can be made to control or eliminate the tumors altogether. FFD Mammograms have been proven to multiply more effective when used together with Computer-Aided Detection and Diagnosis [CADe] systems, relying on algorithmic implementations of Deep Learning techniques in Computer Vision to carry out deep pattern recognition that is comparable to the level of a human radiologist and decipher whether specific areas of interest in the mammogram scan image portray abnormalities if any and whether these abnormalities are indicative of a benign or malignant tumor. Within this paper, we review emergent Deep Learning techniques that will prove relevant to the development of State-of-The-Art FFD Mammogram CADe systems. These techniques will span self-supervised learning for context-encoded occlusion, self-supervised learning for pre-processing and labeling automation, as well as the creation of a standardized large-scale mammography dataset as a benchmark for CADe systems' evaluation. Finally, comparisons are drawn between existing practices that pre-date these techniques and how the development of CADe systems that incorporate them will be different.

Keywords: breast cancer diagnosis, computer aided detection and diagnosis, deep learning, whole mammogram classfication, ultrasound classification, computer vision

Procedia PDF Downloads 90

Authors: Livia Eisler, Cristiane C. B. Alves, Cristina L. F. Ortolani, Kurt Faltin Jr.

Abstract:

Purpose: This paper proposes a technically simple diagnosis method among orthodontists and maxillofacial surgeons in order to evaluate discrete bone alterations. The methodology consists of a protocol to optimize the diagnosis and minimize the possibility for orthodontic and ortho-surgical retreatment. Materials and Methods: A protocol of image processing and analysis, through ImageJ software and its plugins, was applied to 20 pairs of lateral cephalometric images obtained from cone beam computerized tomographies, before and 1 year after undergoing orthognathic surgery. The optical density of the images was analyzed in the condylar region to determine possible bone alteration after surgical correction. Results: Image density was shown to be altered in all image pairs, especially regarding the condyle contours. According to measures, condyle had a gender-related density reduction for p=0.05 and condylar contours had their alterations registered in mm. Conclusion: A simple, viable and cost-effective technique can be applied to achieve the more detailed image-based diagnosis, not depending on the human eye and therefore, offering more reliable, quantitative results.

Keywords: bone resorption, computer-assisted image processing, orthodontics, orthognathic surgery

Procedia PDF Downloads 154

Authors: Swati Bhasin, Ali Ahmed, Valence Xavier, Ben Liu

Abstract:

Aims: Diarrhea is a problem that is a frequent clinic referral to the gastroenterology and surgical team from the General practitioner. To establish a diagnosis, these patients undergo colonoscopy. The current practice at our district general hospital is to perform random left and right colonic biopsies. National guidelines issued by the British Society of Gastroenterology advise all patients presenting with chronic diarrhea should have an Ileoscopy as an indicator for colonoscopy completion. Our primary aim was to check if Terminal ileum (TI) biopsy is required to establish a diagnosis of inflammatory bowel disease (IBD). Methods: Data was collected retrospectively from November 2018 to November 2019. The target population were patients who underwent colonoscopies for diarrhea. Demographic data, endoscopic and histology findings of TI were assessed and analyzed. Results: 140 patients with a mean age of 57 years (19-84) underwent a colonoscopy (M: F; 1:2.3). 92 patients had random colonic biopsies taken and based on the histological results of these, 15 patients (16%) were diagnosed with IBD. The TI was successfully intubated in 40 patients, of which 32 patients had colonic biopsies taken as well. 8 patients did not have a colonic biopsy taken. Macroscopic abnormality in the TI was detected in 5 patients, all of whom were biopsied. Based on histological results of the biopsy, 3 patients (12%) were diagnosed with IBD. These 3 patients (100%) also had colonic biopsies taken simultaneously and showed inflammation. None of the patients had a diagnosis of IBD confirmed on TI intubation alone (where colonic biopsies were not done). None of the patients has a diagnosis of IBD confirmed on TI intubation alone (where colonic biopsies were negative). Conclusion: TI intubation is a highly-skilled, time-consuming procedure with a higher risk of perforation, which as per our study, has little additional diagnostic value in finding IBD for symptoms of diarrhea if colonic biopsies are taken. We propose that diarrhea is a colonic symptom; therefore, colonic biopsies are positive for inflammation if the diarrhea is secondary to IBD. We conclude that all of the IBDs can be diagnosed simply with colonic biopsies.

Keywords: biopsy, colon, IBD, terminal ileum

Procedia PDF Downloads 119

Authors: Dalia. G. Aseel

Abstract:

Begomoviruses are economically important plant viruses that infect dicotyledonous plants and exclusively transmitted by the whitefly Bemisia tabaci. Here, replicative form was isolated from Okra, Cotton, Tomato plants and whitefly infected with Begomoviruses. Using coat protein specific primers (AV1), the viral infection was verified with amplicon at 450 bp. The sequence of OLCuV-AV1 gene was recorded and received an accession number (FJ441605) from Genebank. The phylogenetic tree of OLCuV was closely related to Okra leaf curl virus previously isolated from Cameroon and USA with nucleotide sequence identity of 92%. The protein purification was carried out using His-Tag methodology by using Affinity Chromatography. The purified protein was separated on SDS-PAGE analysis and an enriched expected size of band at 30 kDa was observed. Furthermore, RAPD and SDS-PAGE were used to detect genetic variability between different hosts of okra leaf curl virus (OLCuV), cotton leaf curl virus (CLCuV), tomato yellow leaf curl virus (TYLCuV) and the whitefly vector. Finally, the present study would help to understand the relationship between the whitefly and different economical crops in Egypt.

Keywords: okra leaf curl virus, AV1 gene, sequencing, phylogenetic, cloning, purified protein, genetic diversity and viral proteins

Procedia PDF Downloads 144

Authors: V. Kuzhandai Velu, R. Ramesh

Abstract:

Background and objectives: Acute myocardial infarction (AMI) is the most common cause of mortality and morbidity. Over the last decade, microRNAs (miRs) have emerged as a potential marker for detecting AMI. The current study evaluates the kinetics and importance of miRs in the differential diagnosis of ST-segment elevated MI (STEMI) and non-STEMI (NSTEMI) and its correlation to conventional biomarkers and to predict the immediate outcome of AMI for arrhythmias and left ventricular (LV) dysfunction. Materials and Method: A total of 100 AMI patients were recruited for the study. Routine cardiac biomarker and miRNA levels were measured during diagnosis and serially at admission, 6, 12, 24, and 72hrs. The baseline biochemical parameters were analyzed. The expression of miRs was compared between STEMI and NSTEMI at different time intervals. Diagnostic utility of miR-1, miR-133, miR-208, and miR-499 levels were analyzed by using RT-PCR and with various diagnostics statistical tools like ROC, odds ratio, and likelihood ratio. Results: The miR-1, miR-133, and miR-499 showed peak concentration at 6 hours, whereas miR-208 showed high significant differences at all time intervals. miR-133 demonstrated the maximum area under the curve at different time intervals in the differential diagnosis of STEMI and NSTEMI which was followed by miR-499 and miR-208. Evaluation of miRs for predicting arrhythmia and LV dysfunction using admission sample demonstrated that miR-1 (OR = 8.64; LR = 1.76) and miR-208 (OR = 26.25; LR = 5.96) showed maximum odds ratio and likelihood respectively. Conclusion: Circulating miRNA showed a highly significant difference between STEMI and NSTEMI in AMI patients. The peak was much earlier than the conventional biomarkers. miR-133, miR-208, and miR-499 can be used in the differential diagnosis of STEMI and NSTEMI, whereas miR-1 and miR-208 could be used in the prediction of arrhythmia and LV dysfunction, respectively.

Keywords: myocardial infarction, cardiac biomarkers, microRNA, arrhythmia, left ventricular dysfunction

Procedia PDF Downloads 123

Authors: G. Bhushan, S. Dhingra, K. K. Dubey

Abstract:

This paper presents the evaluation of performance (BSFC and BTE), combustion (P_max) and emission (CO, NO_x, HC and smoke opacity) parameters of karanja biodiesel in a single cylinder, four stroke, direct injection diesel engine by considering significant engine input parameters (blending ratio, compression ratio and load torque). Multi-objective optimization of performance, combustion and emission parameters is also carried out in a karanja biodiesel engine using hybrid RSM-NSGA-II technique. The pareto optimum solutions are predicted by running the hybrid RSM-NSGA-II technique. Each pareto optimal solution is having its own importance. Confirmation tests are also conducted at randomly selected few pareto solutions to check the authenticity of the results.

Keywords: genetic algorithm, rsm, biodiesel, karanja

Procedia PDF Downloads 303

Authors: Ioannis Panagiotopoulos, Aristidis Anastasakis, Konstantinos Toutouzas, Ioannis Iakovou, Charalampos Vlachopoulos, Vasilis Voudris, Georgios Tziomalos, Konstantinos Tsioufis, Efstathios Kastritis, Alexandros Briassoulis, Kimon Stamatelopoulos, Alexios Antonopoulos, Paraskevi Exadaktylou, Evanthia Giannoula, Anastasia Katinioti, Maria Kalantzi, Evangelos Leontiadis, Eftychia Smparouni, Ioannis Malakos, Nikolaos Aravanis, Argyrios Doumas, Maria Koutelou

Abstract:

Introduction: Cardiac amyloidosis from Transthyretin (ATTR-CA) is an infiltrative disease characterized by the deposition of pathological transthyretin complexes in the myocardium. This study describes the characteristics of patients diagnosed with ATTR-CA from 2019 until present at the Nuclear Medicine Department of Onassis Cardiac Surgery Center and AHEPA Hospital. These centers have extensive experience in amyloidosis and modern technological equipment for its diagnosis. Materials and Methods: Records of consecutive patients (N=73) diagnosed with any type of amyloidosis were collected, analyzed, and prospectively followed. The diagnosis of amyloidosis was made using specific myocardial scintigraphy with Tc-99m DPD. Demographic characteristics, including age, gender, marital status, height, and weight, were collected in a database. Clinical characteristics, such as amyloidosis type (ATTR and AL), serum biomarkers (BNP, troponin), electrocardiographic findings, ultrasound findings, NYHA class, aortic valve replacement, device implants, and medication history, were also collected. Some of the most significant results are presented. Results: A total of 73 cases (86% male) were diagnosed with amyloidosis over four years. The mean age at diagnosis was 82 years, and the main symptom was dyspnea. Most patients suffered from ATTR-CA (65 vs. 8 with AL). Out of all the ATTR-CA patients, 61 were diagnosed with wild-type and 2 with two rare mutations. Twenty-eight patients had systemic amyloidosis with extracardiac involvement, and 32 patients had a history of bilateral carpal tunnel syndrome. Four patients had already developed polyneuropathy, and the diagnosis was confirmed by DPD scintigraphy, which is known for its high sensitivity. Among patients with isolated cardiac involvement, only 6 had left ventricular ejection fraction below 40%. The majority of ATTR patients underwent tafamidis treatment immediately after diagnosis. Conclusion: In conclusion, the experiences shared by the two centers and the continuous exchange of information provide valuable insights into the diagnosis and management of cardiac amyloidosis. Clinical suspicion of amyloidosis and early diagnostic approach are crucial, given the availability of non-invasive techniques. Cardiac scintigraphy with DPD can confirm the presence of the disease without the need for a biopsy. The ultimate goal still remains continuous education and awareness of clinical cardiologists so that this systemic and treatable disease can be diagnosed and certified promptly and treatment can begin as soon as possible.

Keywords: amyloidosis, diagnosis, myocardial scintigraphy, Tc-99m DPD, transthyretin

Procedia PDF Downloads 84

Authors: Madeleine Cox

Abstract:

Objective: discussion of diagnosis of vernix caseosa peritonitis, recovery and subsequent caesarean seciton Case: 30 year old G4P1 presented in labour at 40 weeks, planning a vaginal birth afterprevious caesarean section. She underwent an emergency caesarean section due to concerns for fetal wellbeing on CTG. She was found to have a thin lower segment with a very small area of dehiscence centrally. The operation was uncomplicated, and she recovered and went home 2 days later. She then represented to the emergency department day 6 post partum feeling very unwell, with significant abdominal pain, tachycardia as well as urinary retention. Raised white cell count of 13.7 with neutrophils of 11.64, CRP of 153. An abdominal ultrasound was poorly tolerated by the patient and did not aide in the diagnosis. Chest and abdominal xray were normal. She underwent a CT chest and abdomen, which found a small volume of free fluid with no apparent collection. Given no obvious cause of her symptoms were found and the patient did not improve, she had a repeat CT 2 days later, which showed progression of free fluid. A diagnostic laparoscopy was performed with general surgeons, which reveled turbid fluid, an inflamed appendix which was removed. The patient improved remarkably post operatively. The histology showed periappendicitis with acute appendicitis with marked serosal inflammatory reaction to vernix caseosa. Following this, the patient went on to recover well. 4 years later, the patient was booked for an elective caesarean section, on entry into the abdomen, there were very minimal adhesions, and the surgery and her subsequent recovery was uncomplicated. Discussion: this case represents the diagnostic dilemma of a patient who presents unwell without a clear cause. In this circumstance, multiple modes of imaging did not aide in her diagnosis, and so she underwent diagnostic surgery. It is important to evaluate if a patient is or is not responding to the typical causes of post operative pain and adjust management accordingly. A multiteam approach can help to provide a diagnosis for these patients. Conclusion: Vernix caseosa peritonitis is a rare cause of acute abdomen post partum. There are few reports in the literature of the initial presentation and no reports on the possible effects on future pregnancies. This patient did not have any complications in her following pregnancy or delivery secondary to her diagnosis of vernix caseosa peritonitis. This may assist in counselling other women who have had this uncommon diagnosis.

Keywords: peritonitis, obstetrics, caesarean section, pain

Procedia PDF Downloads 97

Authors: Ali Berkan Ural

Abstract:

This paper presents the analysis, evaluation, and pre-diagnosis of early stage breast based diagnostic problems (breast cancer, nodulesorlumps) by Computer Aided Diagnosing (CAD) system from mammogram radiological images. According to the statistics, the time factor is crucial to discover the disease in the patient (especially in women) as possible as early and fast. In the study, a new algorithm is developed using advanced image processing and deep learning method to detect and classify the problem at earlystagewithmoreaccuracy. This system first works with image processing methods (Image acquisition, Noiseremoval, Region Growing Segmentation, Morphological Operations, Breast BorderExtraction, Advanced Segmentation, ObtainingRegion Of Interests (ROIs), etc.) and segments the area of interest of the breast and then analyzes these partly obtained area for cancer detection/lumps in order to diagnosis the disease. After segmentation, with using the Spectrogramimages, 5 different deep learning based methods (specified Convolutional Neural Network (CNN) basedAlexNet, ResNet50, VGG16, DenseNet, Xception) are applied to classify the breast based problems.

Keywords: computer aided diagnosis, breast cancer, region growing, segmentation, deep learning

Procedia PDF Downloads 89

Authors: Zinhle Cindi, Collet Dandara, Mpiko Ntsekhe, Edson Makambwa, Miguel Larceda

Abstract:

Background: Warfarin is the most commonly used drug in the management of thromboembolic disease. However, there is a huge variability in the time, number of doses or starting doses for patients to achieve the required international normalised ratio (INR) which is compounded by a narrow therapeutic index. Many genetic-association studies have reported on European and Asian populations which have led to the designing of specific algorithms that are now being used to assist in warfarin dosing. However, very few or no studies have looked at the pharmacogenetics of warfarin in African populations, yet, huge differences in dosage requirements to reach the same INR have been observed. Objective: We set out to investigate the distribution of 3 SNPs CYP4F2 c.1347C > T, VKORC1 g.-1639G > A and VKORC1 c.1173C > T among South African Mixed Ancestry (MA) and Black African patients. Methods: DNA was extracted from 383 participants and subsequently genotyped using PCR/RFLP for the CYP4F2 c.1347 (V433M) (rs2108622), VKORC1 g.-1639 (rs9923231) and VKORC1 c.1173 (rs9934438) SNPs. Results: Comparing the Black and MA groups, significant differences were observed in the distribution of the following genotypes; CYP4F2 c.1347C/T (23% vs. 39% p=0.03). All VKORC1 g.-1639G > A genotypes (p < 0.006) and all VKORC1 c.1173C > T genotypes (p < 0.007). Conclusion: CYP4F2 c.1347T (V433M) reduces CYP4F2 protein levels and therefore expected to affect the amount of warfarin needed to block vitamin k recycling. The VKORC1 g-1639A variant alters transcriptional regulation therefore affecting the function of vitamin k epoxide reductase in vitamin k production. The VKORC1 c.1173T variant reduces the enzyme activity of VKORC1 consequently enhancing the effectiveness of warfarin. These are preliminary results; more genetic characterization is required to understand all the genetic determinants affecting how patients respond to warfarin.

Keywords: algorithms, pharmacogenetics, thromboembolic disease, warfarin

Procedia PDF Downloads 254

Authors: Jan Busch, Peter Nyhuis

Abstract:

Considering the challenges of short product life cycles and growing variant diversity, cost minimization and manufacturing flexibility increasingly gain importance to maintain a competitive edge in today’s global and dynamic markets. In this context, an aerodynamic part feeding system for high-speed industrial assembly applications has been developed at the Institute of Production Systems and Logistics (IFA), Leibniz Universitaet Hannover. The aerodynamic part feeding system outperforms conventional systems with respect to its process safety, reliability, and operating speed. In this paper, a multi-objective optimisation of the aerodynamic feeding system regarding the orientation rate, the feeding velocity and the required nozzle pressure is presented.

Keywords: aerodynamic feeding system, genetic algorithm, multi-objective optimization, workpiece orientation

Procedia PDF Downloads 570

Authors: Toufik Bensana, Medkour Mihoub, Slimane Mekhilef

Abstract:

The use of vibration analysis has been established as the most common and reliable method of analysis in the field of condition monitoring and diagnostics of rotating machinery. Rolling bearings cover a broad range of rotary machines and plays a crucial role in the modern manufacturing industry. Unfortunately, the vibration signals collected from a faulty bearing are generally nonstationary, nonlinear and with strong noise interference, so it is essential to obtain the fault features correctly. In this paper, a novel numerical analysis method based on local mean decomposition (LMD) is proposed. LMD decompose the signal into a series of product functions (PFs), each of which is the product of an envelope signal and a purely frequency modulated FM signal. The envelope of a PF is the instantaneous amplitude (IA), and the derivative of the unwrapped phase of a purely flat frequency demodulated (FM) signal is the IF. After that, the fault characteristic frequency of the roller bearing can be extracted by performing spectrum analysis to the instantaneous amplitude of PF component containing dominant fault information. The results show the effectiveness of the proposed technique in fault detection and diagnosis of rolling element bearing.

Keywords: fault diagnosis, rolling element bearing, local mean decomposition, condition monitoring

Procedia PDF Downloads 383

Authors: V. Agostini, S. Gino, S. Inturri, A. Piccinini

Abstract:

In cases of corpse identification or parental testing performed on exhumed alleged dead father, usually, we seek and acquire organic samples as bones and/or bone fragments, teeth, nails and muscle’s fragments. The DNA analysis of these cadaveric matrices usually leads to identifying success, but it often happens that the results of the typing are not satisfactory with highly degraded, partial or even non-interpretable genetic profiles. To aggravate the interpretative panorama deriving from the analysis of such 'classical' organic matrices, we must add a long and laborious treatment of the sample that starts from the mechanical fragmentation up to the protracted decalcification phase. These steps greatly increase the chance of sample contamination. In the present work, instead, we want to report the use of 'unusual' cadaveric matrices, demonstrating that their forensic genetics analysis can lead to better results in less time and with lower costs of reagents. We report six case reports, result of on-field experience, in which eyeswabs and cartilage were sampled and analyzed, allowing to obtain clear single genetic profiles, useful for identification purposes. In all cases we used the standard DNA tissue extraction protocols (as reported on the user manuals of the manufacturers such as QIAGEN or Invitrogen- Thermo Fisher Scientific), thus bypassing the long and difficult phases of mechanical fragmentation and decalcification of bones' samples. PCR was carried out using PowerPlex® Fusion System kit (Promega), and capillary electrophoresis was carried out on an ABI PRISM® 310 Genetic Analyzer (Applied Biosystems®), with GeneMapper ID v3.2.1 (Applied Biosystems®) software. The software Familias (version 3.1.3) was employed for kinship analysis. The genetic results achieved have proved to be much better than the analysis of bones or nails, both from the qualitative and quantitative point of view and from the point of view of costs and timing. This way, by using the standard procedure of DNA extraction from tissue, it is possible to obtain, in a shorter time and with maximum efficiency, an excellent genetic profile, which proves to be useful and can be easily decoded for later paternity tests and/or identification of human remains.

Keywords: DNA, eye swabs and cartilage, identification human remains, paternity testing

Procedia PDF Downloads 106

Authors: S. Ahmad, C. Yuan, Q. Zhang

Abstract:

The assorted architectural plasticity of a plant is majorly specified by stooling, a phenomenon tackled by a combination of developmental, environmental and hormonal accelerators of lateral buds. Chrysanthemums (Chrysanthemum morifolium) are one of the most economically important ornamental plants worldwide on the account of having plentiful architectural patterns, diverse shapes and attractive colors. Side branching is the major determinant guaranteeing the consistent demand of cut chrysanthemum in flower industry. Presence of immense number of axillary branches devalues the economic importance of this imperative plant and is a major challenge for mum growers to hold a stake in the cut flower market. Restricting branches to a minimum level, or no branches at all, is the dire need of the day in order to introducing novelty in cut chrysanthemums. Temperature is a potent factor which affects largely the escalation, development of chrysanthemum, and also the genetic expression of various vegetative traits like branching. It affects differently the developmental characteristics and phenotypic expressions of inherent qualities, thereby playing a significant role in differentiating the developmental responses in different cultivars of chrysanthemum. A detailed study pertaining to the affect of temperature on branching in chrysanthemum is a clear lacking throughout the literature on mums. Therefore, searching with temperature as an effective means of reducing side branching to a desired level could be an influencing extension of struggles about how to nullify stooling. This requires plenty of research in order to reveal the extended penetration of temperature in manipulating the genetic control of various important traits like branching, which is a burning issue now a days in producing cut flowers in chrysanthemum. The present review will highlight the impact of temperature on branching control mechanism in chrysanthemum at morpho-physiological, hormonal and molecular levels.

Keywords: branching, chrysanthemum, genetic control, hormonal, morpho-physiological, temperature

Procedia PDF Downloads 280

Authors: Somia Bouzid, Messaoud Ramdani

Abstract:

The success of any diagnosis strategy critically depends on the sensors measuring process variables. This paper presents a detection and diagnosis sensor faults method based on a Bottleneck Neural Network (BNN). The BNN approach is used as a statistical process control tool for drinking water distribution (DWD) systems to detect and isolate the sensor faults. Variable reconstruction approach is very useful for sensor fault isolation, this method is validated in simulation on a nonlinear system: actual drinking water distribution system. Several results are presented.

Keywords: fault detection, localization, PCA, NLPCA, auto-associative neural network

Procedia PDF Downloads 382

Authors: Sanjeewa Seneviratne, Ian Campbell, Nina Scott, Ross Lawrenson

Abstract:

Introduction: Indigenous Māori women experience a 60% higher breast cancer mortality rate compared with European women in New Zealand. We explored the impact of difference in the rate of screen detected breast cancer between Māori and European women on more advanced disease at diagnosis and lower survival in Māori women. Methods: All primary in-situ and invasive breast cancers diagnosed in screening age women (as defined by the New Zealand National Breast Cancer Screening Programme) between 1999 and 2012 in the Waikato area were identified from the Waikato Breast Cancer Register and the national screening database. Association between screen versus non-screen detection and cancer stage at diagnosis and survival were compared by ethnicity and socioeconomic deprivation. Results: Māori women had 50% higher odds of being diagnosed with more advance staged cancer compared with NZ European women, a half of which was explained by the lower rate of screen detected cancer in Māori women. Significantly lower breast cancer survival rates were observed for Māori compared with NZ European and most deprived compared with most affluent socioeconomic groups for symptomatically detected breast cancer. No significant survival differences by ethnicity or socioeconomic deprivation were observed for screen detected breast cancer. Conclusions: Low rate of screen detected breast cancer appears to be a major contributor for more advanced stage disease at diagnosis and lower breast cancer survival in Māori compared with NZ European women. Increasing screening participation for Māori has the potential to substantially reduce breast cancer mortality inequity between Māori and NZ European women.

Keywords: breast cancer, screening, ethnicity, inequity

Procedia PDF Downloads 511

Authors: Antonios Panagopoulos, Stamoulis Georgios

Abstract:

Dyslexia's diagnosis is made taking into account reading and writing skills and is carried out by qualified scientific staff. In addition, there are screening tests that are designed to give an indication of possible dyslexic difficulties. Their main advantage is that they create a pleasant environment for the user and reduce the stress that can lead to false results. An online application was created for the first time, as far as authors' knowledge, for screening Dyslexia in Greek high school students named «DyScreTe». Thus, a sample of 240 students between 16 and 18 years old in Greece was taken, of which 120 were diagnosed with dyslexia by an official authority in Greece, and 120 were typically developed. The main hypothesis that was examined is that students who were diagnosed with dyslexia by official authorities in Greece had significantly lower performance in the respective software tests. The results verified the hypothesis we made those children with dyslexia in each test had a lower performance com-pared to the type developed in successful responses, except for the intelligence test. After random sampling, it was shown that the new online application was a useful tool for screening dyslexia. However, computer evaluation cannot replace the diagnosis by a professional expert, but with the results of this application, the interdisciplinary team that deals with the differential diagnosis will create and evaluate, at a later time, the appropriate intervention program.

Keywords: dyslexia, screening tests, deficits, application

Procedia PDF Downloads 79

Authors: Junghwa An, Sungkyoung Choi, Eun Ye, San Hoon Han, Young-Gun Choi, Chul Oun Jung

Abstract:

The copper-winged bat (Myotis rufoniger) is the widely distributed medium body-sized bat in Asia, including Korea. This bat population has been decreasing because of habitat loss. This study reported the isolation and characterization of ten polymorphic microsatellite loci in endangered M. rufoniger. To do genetic studies, we use saliva DNA of bats during winter sleep period. The number of alleles per locus ranged from 2 to 9, and the observed and expected heterozygosities ranged from 0.063 to 0.750 and from 0.063 to 0.865, respectively. The average polymorphic information content (PIC) value of these markers was 0.37. Two loci of M. rufoniger showed departure from Hardy-Weinberg equilibrium(HWE). This demonstrated that the ten microsatellite loci can be used as genetic markers for further investigation of the copper-winged bat.

Keywords: copper-winged bat, microsatellite, population genetics, South Korea

Procedia PDF Downloads 368

Authors: S. Neelima, P. S. Subramanyam

Abstract:

A distribution system is an interface between the bulk power system and the consumers. Among these systems, radial distributions system is popular because of low cost and simple design. In distribution systems, the voltages at buses reduces when moved away from the substation, also the losses are high. The reason for a decrease in voltage and high losses is the insufficient amount of reactive power, which can be provided by the shunt capacitors. But the placement of the capacitor with an appropriate size is always a challenge. Thus, the optimal capacitor placement problem is to determine the location and size of capacitors to be placed in distribution networks in an efficient way to reduce the power losses and improve the voltage profile of the system. For this purpose, in this paper, two stage methodologies are used. In the first stage, the load flow of pre-compensated distribution system is carried out using ‘dimension reducing distribution load flow algorithm (DRDLFA)’. On the basis of this load flow the potential locations of compensation are computed. In the second stage, Genetic Algorithm (GA) technique is used to determine the optimal location and size of the capacitors such that the cost of the energy loss and capacitor cost to be a minimum. The above method is tested on IEEE 9 and 34 bus system and compared with other methods in the literature.

Keywords: dimension reducing distribution load flow algorithm, DRDLFA, genetic algorithm, electrical distribution network, optimal capacitors placement, voltage profile improvement, loss reduction

Procedia PDF Downloads 386

Authors: Teresa Isabel Lozano Pérez, Sandra Soca Lozano

Abstract:

In Cuba, the childcare is one of the programs prioritized by the Ministry of Public Health and the birth of a child becomes a desired and rewarding event for the family, which is prepared for the reception of a healthy child. When this does not happen and after the first months of the child's birth begin to appear developmental deviations that indicate the presence of a disorder, the event becomes a live event potentially negative and generates disruptions in the family health. A quantitative, descriptive, and cross-sectional research methodology was conducted to describe the impact on family health of diagnosis of autism in a sample of 25 families of children diagnosed with infantile autism at the University Pediatric Hospital Juan Manuel Marquez Havana, Cuba; in the period between January 2014 and May 2015. The sample was non probabilistic and intentional from the inclusion criteria selected. As instruments, we used a survey to identify the structure of the family, life events inventory and an instrument to assess the relative impact, adaptive resources of family and social support perceived (IRFA) to identify the diagnosis of autism as life event. The main results indicated that the majority of families studied were nuclear, small and medium and in the formation stage. All households surveyed identified the diagnosis of autism in a child as an event of great importance and negative significance for the family, taking in most of the families studied a high impact on the four areas of family health and impact enhancer of involvement in family health. All the studied families do not have sufficient adaptive resources to face this situation, sensing that they received social support frequently, mainly in information and emotional areas. We conclude that the diagnosis of autism one of the members of the families studied is valued as a life event highly significant with unfavorably way causing an enhancer impact of involvement in family health especially in the areas ‘health’ and ‘socio-psychological’. Among the social support networks health institutions, partners and friends are highlighted. We recommend developing intervention strategies in families of these children to support them in the process of adapting the diagnosis.

Keywords: family, family health, infantile autism, life event

Procedia PDF Downloads 428

Authors: Fekadu Gadissa, Kassahun Tesfaye, Kifle Dagne, Mulatu Geleta

Abstract:

‘Ethiopian dinich’ also called ‘Ethiopian potato’ is one of the economically important ‘orphan’ edible tuber crops indigenous to Ethiopia. We evaluated the morphological and agronomic traits performances of 174 samples from Ethiopia at multiple locations using 12 qualitative and 16 quantitative traits, recorded at the correct growth stages. We observed several morphotypes and phenotypic variations for qualitative traits along with a wide range of mean performance values for all quantitative traits. Analysis of variance for each quantitative trait showed a highly significant (p<0.001) variation among the collections with eventually non-significant variation for environment-traits interaction for all but flower length. A comparatively high phenotypic and genotypic coefficient of variation was observed for plant height, days to flower initiation, days to 50% flowering and tuber number per hill. Moreover, the variability and coefficients of variation due to genotype-environment interaction was nearly zero for all the traits except flower length. High genotypic coefficients of variation coupled with a high estimate of broad sense heritability and high genetic advance as a percent of collection mean were obtained for tuber weight per hill, number of primary branches per plant, tuber number per hill and number of plants per hill. Association of tuber yield per hectare of land showed a large magnitude of positive phenotypic and genotypic correlation with those traits. Principal components analysis revealed 76% of the total variation for the first six principal axes with high factor loadings again from tuber number per hill, number of primary branches per plant and tuber weight. The collections were grouped into four clusters with the weak region (zone) of origin based pattern. In general, there is high genetic-based variability for ‘Ethiopian dinich’ improvement and conservation. DNA based markers are recommended for further genetic diversity estimation for use in breeding and conservation.

Keywords: agro-morphological traits, Ethiopian dinich, genetic diversity, variance components

Procedia PDF Downloads 183

Authors: Ghada Badr, Manar Hosny, Nuha Bintayyash, Eman Albilali, Souad Larabi Marie-Sainte

Abstract:

The median problem is significantly applied to derive the most reasonable rearrangement phylogenetic tree for many species. More specifically, the problem is concerned with finding a permutation that minimizes the sum of distances between itself and a set of three signed permutations. Genomes with equal number of genes but different order can be represented as permutations. In this paper, an algorithm, namely BeamGA median, is proposed that combines a heuristic search approach (local beam) as an initialization step to generate a number of solutions, and then a Genetic Algorithm (GA) is applied in order to refine the solutions, aiming to achieve a better median with the smallest possible reversal distance from the three original permutations. In this approach, any genome rearrangement distance can be applied. In this paper, we use the reversal distance. To the best of our knowledge, the proposed approach was not applied before for solving the median problem. Our approach considers true biological evolution scenario by applying the concept of common intervals during the GA optimization process. This allows us to imitate a true biological behavior and enhance genetic approach time convergence. We were able to handle permutations with a large number of genes, within an acceptable time performance and with same or better accuracy as compared to existing algorithms.

Keywords: median problem, phylogenetic tree, permutation, genetic algorithm, beam search, genome rearrangement distance

Procedia PDF Downloads 262

Authors: Hesham Abdin, Mohamed Zakaria, Talaat Abd-Elmonaem, Alaa El-Din Sayed Hafez

Abstract:

Kalman filter algorithm is an estimator known as the workhorse of estimation. It has an important application in missile guidance, especially in lack of accurate data of the target due to noise or uncertainty. In this paper, a Kalman filter is used as a tracking filter in a simulated target-interceptor scenario with noise. It estimates the position, velocity, and acceleration of the target in the presence of noise. These estimations are needed for both proportional navigation and differential geometry guidance laws. A Kalman filter has a good performance at low noise, but a large noise causes considerable errors leads to performance degradation. Therefore, a new technique is required to overcome this defect using tuning factors to tune a Kalman filter to adapt increasing of noise. The values of the tuning factors are between 0.8 and 1.2, they have a specific value for the first half of range and a different value for the second half. they are multiplied by the estimated values. These factors have its optimum values and are altered with the change of the target heading. A genetic algorithm updates these selections to increase the maximum effective range which was previously reduced by noise. The results show that the selected factors have other benefits such as decreasing the minimum effective range that was increased earlier due to noise. In addition to, the selected factors decrease the miss distance for all ranges of this direction of the target, and expand the effective range which leads to increase probability of kill.

Keywords: proportional navigation, differential geometry, Kalman filter, genetic algorithm

Procedia PDF Downloads 504

Authors: Hasrat Arjjumend, Sabiha Alam

Abstract:

The Nagoya Protocol is landmark international legislation governing access to genetic resources and benefit sharing from utilization of genetic resource and traditional knowledge. The field implications of the international law have been assessed by surveying academic/ research institutions, civil society organizations (CSOs) and concerned individuals, who gave their opinions on whether the provider parties (usually developing countries) would ensure effective participation of Indigenous people and local communities (ILCs) in establishing the mechanisms to inform the potential users of traditional knowledge (TK) about their obligations under art. 12.2 of Nagoya Protocol. First of all, involvement and participation of ILCs in suggested clearing-house mechanisms of the Parties are seldom witnessed. Secondly, as respondents expressed, it is doubtful that developing countries would ensure effective participation of ILCs in establishing the mechanisms to inform the potential users of TK about their obligations. Yet, as most of ILCs speak and understand local or indigenous languages, whether the Nagoya Protocol provides or not, it is a felt need that the Parties should disclose information in a language understandable to ILCs. Alternative opinions indicate that if TK held by ILCs is disclosed, the value is gone. Therefore, it should be protected by the domestic law first and should be disclosed then.

Keywords: genetic resources, indigenous people, language, Nagoya protocol, participation, traditional knowledge

Procedia PDF Downloads 143

Authors: Jay L. Fu

Abstract:

Patients with Alzheimer's disease progressively lose their memory and thinking skills and, eventually, the ability to carry out simple daily tasks. The disease is irreversible, but early detection and treatment can slow down the disease progression. In this research, publicly available MRI data and demographic data from 373 MRI imaging sessions were utilized to build models to predict dementia. Various machine learning models, including logistic regression, k-nearest neighbor, support vector machine, random forest, and neural network, were developed. Data were divided into training and testing sets, where training sets were used to build the predictive model, and testing sets were used to assess the accuracy of prediction. Key risk factors were identified, and various models were compared to come forward with the best prediction model. Among these models, the random forest model appeared to be the best model with an accuracy of 90.34%. MMSE, nWBV, and gender were the three most important contributing factors to the detection of Alzheimer’s. Among all the models used, the percent in which at least 4 of the 5 models shared the same diagnosis for a testing input was 90.42%. These machine learning models allow early detection of Alzheimer’s with good accuracy, which ultimately leads to early treatment of these patients.

Keywords: Alzheimer's disease, clinical diagnosis, magnetic resonance imaging, machine learning prediction

Procedia PDF Downloads 139

Authors: Felicia N. Obialo, Aliza Wingo, Thomas Wingo

Abstract:

Psychosocial factors such as personality traits and social networks influence cognitive aging and dementia outcomes both positively and negatively. The inherent complexity of these factors makes defining the underlying mechanisms of their influence difficult; however, exploring their interactions affords promise in the field of cognitive aging. The objective of this study was to elucidate some of these interactions by determining the relationship between social network size and dementia outcomes and by determining whether personality traits mediate this relationship. The longitudinal Alzheimer’s Disease (AD) database provided by Rush University’s Religious Orders Study/Memory and Aging Project was utilized to perform retrospective regression and mediation analyses on 3,591 participants. Participants who were cognitively impaired at baseline were excluded, and analyses were adjusted for age, sex, common chronic diseases, and vascular risk factors. Dementia outcome measures included cognitive trajectory, clinical dementia diagnosis, and postmortem beta-amyloid plaque (AB), and neurofibrillary tangle (NT) accumulation. Personality traits included agreeableness (A), conscientiousness (C), extraversion (E), neuroticism (N), and openness (O). The results show a positive correlation between social network size and cognitive trajectory (p-value = 0.004) and a negative relationship between social network size and odds of dementia diagnosis (p = 0.024/ Odds Ratio (OR) = 0.974). Only neuroticism mediates the positive relationship between social network size and cognitive trajectory (p < 2e-16). Agreeableness, extraversion, and neuroticism all mediate the negative relationship between social network size and dementia diagnosis (p=0.098, p=0.054, and p < 2e-16, respectively). All personality traits are independently associated with dementia diagnosis (A: p = 0.016/ OR = 0.959; C: p = 0.000007/ OR = 0.945; E: p = 0.028/ OR = 0.961; N: p = 0.000019/ OR = 1.036; O: p = 0.027/ OR = 0.972). Only conscientiousness and neuroticism are associated with postmortem AD pathologies; specifically, conscientiousness is negatively associated (AB: p = 0.001, NT: p = 0.025) and neuroticism is positively associated with pathologies (AB: p = 0.002, NT: p = 0.002). These results support the study’s objectives, demonstrating that social network size and personality traits are strongly associated with dementia outcomes, particularly the odds of receiving a clinical diagnosis of dementia. Personality traits interact significantly and beneficially with social network size to influence the cognitive trajectory and future dementia diagnosis. These results reinforce previous literature linking social network size to dementia risk and provide novel insight into the differential roles of individual personality traits in cognitive protection.

Keywords: Alzheimer’s disease, cognitive trajectory, personality traits, social network size

Procedia PDF Downloads 124

Authors: Monika Szymańska-Czerwińsk, Kinga Zaręba-Marchewka, Krzysztof Niemczuk

Abstract:

Chlamydiaceae are Gram-negative bacteria distributed worldwide in animals and humans. One of them is Chlamydia gallinacea recently discovered. Available data show that C. gallinacea is dominant chlamydial agent found in poultry in European and Asian countries. The aim of the studies was screening of poultry flocks in order to evaluate frequency of C. gallinacea shedding and genetic diversity. Sampling was conducted in different regions of Poland in 2019-2020. Overall, 1466 cloacal/oral swabs were collected in duplicate from 146 apparently healthy poultry flocks including chickens, turkeys, ducks, geese and quails. Dry swabs were used for DNA extraction. DNA extracts were screened using a Chlamydiaceae 23S rRNA real-time PCR assay. To identify Chlamydia species, specific real-time PCR assays were performed. Furthermore, selected samples were used for sequencing based on ompA gene fragments and variable domains (VD1-2, VD3-4). In total, 10.3% of the tested flocks were Chlamydiaceae-positive (15/146 farms). The presence of Chlamydiaceae was confirmed mainly in chickens (13/92 farms) but also in turkey (1/19 farms) and goose (1/26 farms) flocks. Eleven flocks were identified as C. gallinacea-positive while four flocks remained unclassified. Phylogenetic analysis revealed at least 16 genetic variants of C. gallinacea. Research showed that Chlamydiaceae occur in a poultry flock in Poland. The strains of C. gallinacea as dominant species show genetic variability.

Keywords: C. gallinacea, emerging agent, poultry, real-time PCR

Procedia PDF Downloads 102

Authors: Sultan Çağırıcı, Arsida Bajrami, Beyza Aslan, Hacı Ali Erdoğan, Nejla Sözer Topçular, Dilek Bozkurt, Vildan Yayla

Abstract:

Objective: Corticobasal syndrome (CBS) is phenotypically characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, dystonia and myoclonus. The underlying pathologies consists of corticobasal degeneration (CBD), progressive supra nuclear palsy, Alzheimer's, Creutzfeldt-Jakob and frontotemporal degeneration. CBD is a degenerative disease with clinical symptoms related to the prominent involvement of cerebral cortex and basal ganglia. CBD is a pathological diagnosis and antemortem clinical diagnosis may change many times. In this paper, we described the clinical features and discussed a cases diagnosed with symmetric CBS because of its rarity. Case: Seventy-five-year-old woman presented with a three years history of difficulty in speaking and reading. Involuntary hand jerks and slowness of movement also had began in the last six months. In the neurological examination the patient was alert but not fully oriented. The speech was non-fluent, word finding difficulties were present. Bilateral limited upgaze, bradimimia, bilateral positive cogwheel' rigidity but prominent in the right side, postural tremor and negative myoclonus during action on the left side were detected. Receptive language was normal but expressive language and repetition were impaired. Acalculia, alexia, agraphia and apraxia were also present. CSF findings were unremarkable except for elevated protein level (75 mg/dL). MRI revealed bilateral symmetric cortical atrophy prominent in the frontoparietal region. PET showed hypometabolism in the left caudate nucleus. Conclusion: The increase of data related to neurodegenerative disorders associated with dementia, movement disorders and other findings results in an expanded range of diagnosis and transitions between clinical diagnosis. When considered the age of onset, clinical symptoms, imaging findings and prognosis of this patient, clinical diagnosis was CBS and pathologic diagnosis as probable CBD. Imaging of CBD usually consist of typical asymmetry between hemispheres. Still few cases with clinical appearance of CBD may show symmetrical cortical cerebral atrophy. It is presented this case who was diagnosed with CBD although we found symmetrical cortical cerebral atrophy in MRI.

Keywords: symmetric cortical atrophy, corticobasal degeneration, corticobasal syndrome

Procedia PDF Downloads 450

Authors: Asma Naseer Cheema, Attya Bhatti, Jabar Ali, John Peter

Abstract:

Background: High cholesterol levels, endothelial dysfunction, inefficient coagulation cascade and hyper inflammatory response all are the basis of coronary artery disease (CAD). Several studies are carried out to see the genetic influence of these factors on disease outcome. Objective: The objective of our study was to see the association of 10 putative loci with coronary artery disease in our population. Materials & Methods: We screened our population for 10 putative loci of CAD showing significant association (p < 5x10-8) with candidate genes (regulating the cholesterol metabolism, endothelial function, coagulation cascade and inflammatory response of body). Hardy-Weinberg equilibrium and linkage disequilibrium in cases and controls s were estimated separately. Approximately 5-10 ng of dried DNA in 384 well plate format was used to genotype each sample on the Sequenom iPLEX assay at University of Pittsburgh Genomics and Proteomics Core Laboratories. It was built on single-base primer extension with the MALDI-TOF MS detection possessing high sensitivity and specificity. The SNPs were genotyped through Taqman assay. Hardy Weinberg test was applied. The 10 SNPs were selected as genetic markers for this study (rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650). Results: Mean age of the patient was 52 ± 11 years. Blood pressure and positive family history was found a significant risk factor for CAD. None of the selected SNPs showed significant association with coronary artery disease in our population (p>0.05). Conclusion: rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650 are not significant genetic markers for CAD in our population.

Keywords: CAD, genetic markers, loci, risk factors

Procedia PDF Downloads 365

Authors: Prikhil Agrawal, N. Priyanka

Abstract:

With the increase of millions of users on Internet day by day, it is very essential to maintain highly reliable and secured data communication between various corporations. Although there are various traditional security imparting techniques such as antivirus software, password protection, data encryption, biometrics and firewall etc. But still network security has become the main issue in various leading companies. So IDSs have become an essential component in terms of security, as it can detect various network attacks and respond quickly to such occurrences. IDSs are used to detect unauthorized access to a computer system. This paper describes various intrusion detection techniques using GA approach. The intrusion detection problem has become a challenging task due to the conception of miscellaneous computer networks under various vulnerabilities. Thus the damage caused to various organizations by malicious intrusions can be mitigated and even be deterred by using this powerful tool.

Keywords: genetic algorithm (GA), intrusion detection system (IDS), dataset, network security

Procedia PDF Downloads 292