Search results for: complex genetic disorder

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

Abstract:

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

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

Procedia PDF Downloads 444

Authors: Xiao Zhang, Wensheng Xiao, Junguo Cui, Hongmin Wang

Abstract:

Submersible permanent magnet linear synchronous motors (SPMLSMs) are electromagnetic devices, which can directly drive plunger pump to obtain the crude oil. Those motors have been gradually applied in oil fields due to high thrust force density and high efficiency. Since the force performance closely depends on the concrete structural parameters, the seven different structural parameters are investigated in detail. This paper presents an optimum design of an SPMLSM to minimize the detent force and maximize the thrust by using design of experiment (DOE) and genetic algorithm (GA). The three significant structural parameters (air-gap length, slot width, pole-arc coefficient) are separately screened using 27 1/16 fractional factorial design (FFD) to investigate the significant effect of seven parameters used in this research on the force performance. Response surface methodology (RSM) is well adapted to make analytical model of thrust and detent force with constraints of corresponding significant parameters and enable objective function to be easily created, respectively. GA is performed as a searching tool to search for the Pareto-optimal solutions. By finite element analysis, the proposed PMLSM shows merits in improving thrust and reducing the detent force dramatically.

Keywords: optimization, force performance, design of experiment (DOE), genetic algorithm (GA)

Procedia PDF Downloads 290

Authors: Toshinori Nawata

Abstract:

In this paper a nonlinear feedback control called augmented automatic choosing control (AACC) for a class of nonlinear systems with constrained input is presented. When designing the control, a constant term which arises from linearization of a given nonlinear system is treated as a coefficient of a stable zero dynamics. Parameters of the control are suboptimally selected by maximizing the stable region in the sense of Lyapunov with the aid of a genetic algorithm. This approach is applied to a field excitation control problem of power system to demonstrate the splendidness of the AACC. Simulation results show that the new controller can improve performance remarkably well.

Keywords: augmented automatic choosing control, nonlinear control, genetic algorithm, zero dynamics

Procedia PDF Downloads 479

Authors: Surekha Tony, Roshan Mevada

Abstract:

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema, and microthrombocytopenia. In its classical form, significant combined immune deficiency, autoimmune complications, and risk of hematological malignancy necessitate early correction, preferably before 2 years of age, with hematopoietic stem cell transplant (HSCT) or gene therapy. Clinical features and severity are varied, making the diagnosis difficult in milder cases. We report an Omani boy diagnosed in early infancy with WAS based on clinical presentation and confirmed by genetic diagnosis with cure by HSCT from an HLA-identical sibling donor.

Keywords: genetic diagnosis, hematopoietic stem cell transplant, infant, Wiskott-Aldrich syndrome

Procedia PDF Downloads 21

Authors: Rozan El-Khateeb

Abstract:

This literature review examines the effectiveness of therapy programs that utilize play as an intervention for reducing symptoms associated with Autism Spectrum Disorder (ASD). Play-based therapy approaches provide a child-centered and developmentally appropriate framework to address the core symptoms of ASD, including social communication deficits, restricted and repetitive behaviors, and sensory sensitivities. The review explores various play-based therapy strategies and their impact on improving social skills, communication abilities, adaptive behaviors, and overall functioning in individuals with ASD. The findings suggest that play-based therapy programs hold promise as effective interventions for reducing symptoms and enhancing the quality of life for individuals with ASD. However, further research is necessary to establish standardized protocols, identify optimal dosage and duration, and evaluate long-term outcomes.

Keywords: autism, ABA, play, NET, systematic review

Procedia PDF Downloads 77

Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

Abstract:

22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

Procedia PDF Downloads 153

Authors: Fawaz A. Binsarra, Halim Boussabaine

Abstract:

The notion of complexity science has been attracting the interest of researchers and professionals due to the need of enhancing the efficiency of understanding complex systems dynamic and structure of interactions. In addition, complexity analysis has been used as an approach to investigate complex systems that contains a large number of components interacts with each other to accomplish specific outcomes and emerges specific behavior. The design process is considered as a complex action that involves large number interacted components, which are ranked as design tasks, design team, and the components of the design process. Those three main aspects of the building design process consist of several components that interact with each other as a dynamic system with complex information flow. In this paper, the goal is to uncover the complex structure of information interactions in building design process. The Investigating of Royal Institute of British Architects Plan Of Work 2013 information interactions as a case study to uncover the structure and building design process complexity using network analysis software to model the information interaction will significantly enhance the efficiency of the building design process outcomes.

Keywords: complexity, process, building desgin, Riba, design complexity, network, network analysis

Procedia PDF Downloads 529

Authors: D. Mohammadzadeh S., J. Bolouri Bazaz

Abstract:

This paper presents a new prediction model for compression index of fine-grained soils using multi-gene genetic programming (MGGP) technique. The proposed model relates the soil compression index to its liquid limit, plastic limit and void ratio. Several laboratory test results for fine-grained were used to develop the models. Various criteria were considered to check the validity of the model. The parametric and sensitivity analyses were performed and discussed. The MGGP method was found to be very effective for predicting the soil compression index. A comparative study was further performed to prove the superiority of the MGGP model to the existing soft computing and traditional empirical equations.

Keywords: new prediction model, compression index soil, multi-gene genetic programming, MGGP

Procedia PDF Downloads 376

Authors: Garima Anand, Rupam Kapoor

Abstract:

Alternaria leaf spot caused by Alternaria carthami is one of the most devastating diseases of safflower. It has resulted in huge losses in crop production and cultivation leading to a fall out of India’s rank as the leading producer of safflower in the world. Understanding the diversity of any pathogen is essential for its management and for the development of disease control strategies. The diversity of A. carthami was therefore analysed on the basis of biochemical, pathogenicity and genetic lines using ISSR markers. Collections and isolations of 95 isolates of A. carthami were made from major safflower producing states of India. Virulence was analysed to evaluate the pathogenic potential of these isolates. The isolates from Bijapur, Dharwad districts (Karnataka), and Parbhani and Solapur districts (Maharashtra) were found to be highly virulent. The virulence assays showed low virulence levels (42%) for the largest part of the population. Biochemical characterization to assess aggressiveness of these isolates was done by estimating the activity of cell wall degrading enzymes where isolates from districts Dharwad, Bijapur of Karnataka and districts Parbhani and Latur of Maharashtra were found to be most aggressive. Genetic diversity among isolates of A. carthami was determined using eighteen ISSR markers. Distance analysis using neighbour joining method and PCoA analysis of the ISSR profiles divided the isolates into three sub-populations. The most virulent isolates clustered in one group in the dendrogram. The study provided no evidence for geographical clustering indicating that isolates are randomly spread across the states, signifying the high potential of the fungus to adapt to diverse regions. The study can, therefore, aid in the breeding and deployment of A. carthami resistant safflower varieties and in the management of Alternaria leaf spot disease.

Keywords: alternaria leaf spot, genetic diversity, pathogenic potential, virulence

Procedia PDF Downloads 255

Authors: Aizati N. A. Daud, Jorieke E. H. Bergman, Wilhelmina S. Kerstjens-Frederikse, Pieter Van Der Vlies, Eelko Hak, Rolf M. F. Berger, Henk Groen, Bob Wilffert

Abstract:

Prenatal use of SRIs was previously associated with Congenital Heart Anomalies (CHA). The aim of the study is to explore whether pharmacogenetics plays a role in this teratogenicity using a gene-environment interaction study. A total of 33 case-mother dyads and 2 mother-only (children deceased) registered in EUROCAT Northern Netherlands were included in a case-only study. Five case-mother dyads and two mothers-only were exposed to SRIs (paroxetine=3, fluoxetine=2, venlafaxine=1, paroxetine and venlafaxine=1) in the first trimester of pregnancy. The remaining 28 case-mother dyads were not exposed to SRIs. Ten genes that encode the enzymes or proteins important in determining fetal exposure to SRIs or its mechanism of action were selected: CYPs (CYP1A2, CYP2C9, CYP2C19, CYP2D6), ABCB1 (placental P-glycoprotein), SLC6A4 (serotonin transporter) and serotonin receptor genes (HTR1A, HTR1B, HTR2A, and HTR3B). All included subjects were genotyped for 58 genetic variations in these ten genes. Logistic regression analyses were performed to determine the interaction odds ratio (OR) between genetic variations and SRIs exposure on the risk of CHA. Due to low phenotype frequencies of CYP450 poor metabolizers among exposed cases, the OR cannot be calculated. For ABCB1, there was no indication of changes in the risk of CHA with any of the ABCB1 SNPs in the children and their mothers. Several genetic variations of the serotonin transporter and receptors (SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 & rs6298, HTR3B rs1176744) were associated with an increased risk of CHA, but with too limited sample size to reach statistical significance. For SLC6A4 genetic variations, the mean genetic scores of the exposed case-mothers tended to be higher than the unexposed mothers (2.5 ± 0.8 and 1.88 ± 0.7, respectively; p=0.061). For SNPs of the serotonin receptors, the mean genetic score for exposed cases (children) tended to be higher than the unexposed cases (3.4 ± 2.2, and 1.9 ± 1.6, respectively; p=0.065). This study might be among the first to explore the potential gene-environment interaction between pharmacogenetic determinants and SRIs use on the risk of CHA. With small sample sizes, it was not possible to find a significant interaction. However, there were indications for a role of serotonin receptor polymorphisms in fetuses exposed to SRIs on fetal risk of CHA which warrants further investigation.

Keywords: gene-environment interaction, heart defects, pharmacogenetics, serotonin reuptake inhibitors, teratogenicity

Procedia PDF Downloads 220

Authors: Rujia Chen, Ajit Narayanan

Abstract:

Convolutional neural networks (CNN), as typically applied in deep learning, use layer-wise backpropagation (BP) to construct filters and kernels for feature extraction. Such filters are 2D or 3D groups of weights for constructing feature maps at subsequent layers of the CNN and are shared across the entire input. BP as a gradient descent algorithm has well-known problems of getting stuck at local optima. The use of genetic algorithms (GAs) for evolving weights between layers of standard artificial neural networks (ANNs) is a well-established area of neuroevolution. In particular, the use of crossover techniques when optimizing weights can help to overcome problems of local optima. However, the application of GAs for evolving the weights of filters and kernels in CNNs is not yet an established area of neuroevolution. In this paper, a GA-based filter development algorithm is proposed. The results of the proof-of-concept experiments described in this paper show the proposed GA algorithm can find filter weights through evolutionary techniques rather than BP learning. For some simple classification tasks like geometric shape recognition, the proposed algorithm can achieve 100% accuracy. The results for MNIST classification, while not as good as possible through standard filter learning through BP, show that filter and kernel evolution warrants further investigation as a new subarea of neuroevolution for deep architectures.

Keywords: neuroevolution, convolutional neural network, genetic algorithm, filters, kernels

Procedia PDF Downloads 187

Authors: Lesley Northrop, Justin DeGrazia, Jessica Greenwood

Abstract:

ASPIRA Labs now offers an en-suit and ready-to-implement technology transfer solution to enable labs and hospitals that lack the resources to build it themselves to offer in-house genetic testing. This unique platform employs a patented Molecular Inversion Probe (MIP) technology that combines the specificity of a hybrid capture protocol with the ease of an amplicon-based protocol and utilizes an advanced bioinformatics analysis pipeline based on machine learning. To demonstrate its efficacy, two independent genetic tests were validated on this technology transfer platform: expanded carrier screening (ECS) and hereditary cancer testing (HC). The analytical performance of ECS and HC was validated separately in a blinded manner for calling three different types of variants: SNVs, short indels (typically, <50 bp), and large indels/CNVs defined as multi-exonic del/dup events. The reference set was constructed using samples from Coriell Institute, an external clinical genetic testing laboratory, Maine Molecular Quality Controls Inc. (MMQCI), SeraCare and GIAB Consortium. Overall, the analytical performance showed a sensitivity and specificity of >99.4% for both ECS and HC in detecting SNVs. For indels, both tests reported specificity of 100%, and ECS demonstrated a sensitivity of 100%, whereas HC exhibited a sensitivity of 96.5%. The bioinformatics pipeline also correctly called all reference CNV events resulting in a sensitivity of 100% for both tests. No additional calls were made in the HC panel, leading to a perfect performance (specificity and F-measure of 100%). In the carrier panel, however, three additional positive calls were made outside the reference set. Two of these calls were confirmed using an orthogonal method and were re-classified as true positives leaving only one false positive. The pipeline also correctly identified all challenging carrier statuses, such as positive cases for spinal muscular atrophy and alpha-thalassemia, resulting in 100% sensitivity. After confirmation of additional positive calls via long-range PCR and MLPA, specificity for such cases was estimated at 99%. These performance metrics demonstrate that this tech-transfer solution can be confidently internalized by clinical labs and hospitals to offer mainstream ECS and HC as part of their test catalog, substantially increasing access to quality germline genetic testing for labs of all sizes and resources levels.

Keywords: clinical genetics, genetic testing, molecular genetics, technology transfer

Procedia PDF Downloads 178

Authors: Anca Radulescu, Danae Evans

Abstract:

The relationship between a network’s hardwiring and its emergent dynamics are central to neuroscience. We study the principles of this correspondence in a canonical setup (in which network nodes exhibit well-studied complex quadratic dynamics), then test their universality in biological networks. By extending methods from discrete dynamics, we study the effects of network connectivity on temporal patterns, encapsulating long-term behavior into the rich topology of network Mandelbrot sets. Then elements of fractal geometry can be used to predict and classify network behavior.

Keywords: canonical model, complex dynamics, dynamic networks, fractals, Mandelbrot set, network connectivity

Procedia PDF Downloads 309

Authors: Jennie Long, Marjorie Bock

Abstract:

Although the professional literature related to Autism Spectrum Disorder (ASD) has focused on successful interventions and strategies, there is a lack of documentation regarding which of these methods and supports are most foundational and essential for classroom use. Specifically, literature does not define the core foundational interventions and strategies that would be elemental for educators to use with students with an ASD diagnosis. From the increase in prevalence of autism spectrum disorders, to the challenge students with ASD pose in classrooms, to the requirement to implement evidence-based practice, rises an enormous challenge in the field of education. Foundational interventions should be in place the first day the student enters the classroom. The nine interventions are foundational in nature and because of the dramatic increase in prevalence there is currently a need for classroom programs to provide the foundation of basic educational skills as well as the specialty skills specific to the area of ASD utilizing the most current research. This article presents nine evidence-based intervention categories for implementation with students on the spectrum.

Keywords: autism spectrum disorder, classroom, evidence-based, foundational

Procedia PDF Downloads 263

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 150

Authors: Olga Maksakova

Abstract:

A work with unconscious patients after acute brain damages besides special knowledge and practical skills of all the participants requires a very specific organization. A lot of said about team approach in neurorehabilitation, usually as for outpatient mode. Rehabilitologists deal with fixed patient problems or deficits (motion, speech, cognitive or emotional disorder). Team-building means superficial paradigm of management psychology. Linear mode of teamwork fits casual relationships there. Cases with deep altered states of consciousness (vegetative states, coma, and confusion) require non-linear mode of teamwork: recovery of consciousness might not be the goal due to phenomenon uncertainty. Rehabilitation team as Semi-open Complex System includes the patient as a part. Patient's response pattern becomes formed not only with brain deficits but questions-stimuli, context, and inquiring person. Teamwork is sourcing of phenomenology knowledge of patient's processes as Third-person approach is replaced with Second- and after First-person approaches. Here is a chance for real-time change. Patient’s contacts with his own body and outward things create a basement for restoration of consciousness. The most important condition is systematic feedbacks to any minimal movement or vegetative signal of the patient. Up to now, recovery work with the most severe contingent is carried out in the mode of passive physical interventions, while an effective rehabilitation team should include specially trained psychologists and psychotherapists. It is they who are able to create a network of feedbacks with the patient and inter-professional ones building up the team. Characteristics of ‘Team-Patient’ system (TPS) are energy, entropy, and complexity. Impairment of consciousness as the absence of linear contact appears together with a loss of essential functions (low energy), vegetative-visceral fits (excessive energy and low order), motor agitation (excessive energy and excessive order), etc. Techniques of teamwork are different in these cases for resulting optimization of the system condition. Directed regulation of the system complexity is one of the recovery tools. Different signs of awareness appear as a result of system self-organization. Joint meetings are an important part of teamwork. Regular or event-related discussions form the language of inter-professional communication, as well as the patient's shared mental model. Analysis of complex communication process in TPS may be useful for creation of the general theory of consciousness.

Keywords: rehabilitation team, urgent rehabilitation, severe brain damage, consciousness disorders, complex system theory

Procedia PDF Downloads 147

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 306

Authors: Sidika McNeil

Abstract:

Borderline personality disorder (BPD) is a personality disorder that has been found to have strong origins in childhood trauma. One of the key symptoms of BPD is an association with irregular moods swings, as well as suicidal ideation (SI). Owing to the typically severe trauma patients experience during childhood, it is hard for them to control their emotions and thus makes it hard to emotionally regulate. It is then very common for those suffering from BPD to turn to unhealthy coping mechanisms, such as substance use, unhealthy relationships, and more, often unsuccessfully creating experiences that facilitate safety which leads to further negative experiences. With the high suicide rating among children, adolescents, and teens, and an ever-increasing number of children being diagnosed with BPD, it is very important that more research is done to find further treatments for patients who are currently suffering. Methods: Utilizing data found in prior studies, this paper will analyze the literature to focus on a comprehensive treatment plan for those with DBT. It is currently suggested that with the use of dialectical behavioral therapy (DBT), a therapy that focuses on changing negative thinking patterns and pushes for more positive ones is helpful for treatment for those with BPD. Though this therapy is not a cure to BPD, it does help mitigate the risk; this essay will explore other options that can further the treatment process, such as cognitive analytical therapy (CAT), which focuses on delving into the past to find the root causes of an issue to create coping strategies and harm reduction, a type of therapy used to aid patients in lowering the use of substances without complete cessation. Results: The research provides enough evidence to link between the treatment of BPD with the utilization of CAT.

Keywords: borderline personality disorder, cognitive analytical therapy, dialectical behavioral therapy, harm reduction, suicidal ideation

Procedia PDF Downloads 179

Authors: Melika Masjedi

Abstract:

Post-Traumatic Stress Disorder (PTSD) has a significant impact on the mental health and relationship dynamics of couples, leading to decreased marital satisfaction. This study examines the mediating role of sexual and romantic relationship dynamics in relation to PTSD and marital satisfaction among Iranian couples. Using a sample of 107 participants, quantitative methods were utilized to assess variables such as relationship functioning, PTSD symptom severity, and the influence of sexual and romantic interactions. The findings demonstrate a strong correlation between heightened PTSD symptoms and reduced marital satisfaction, particularly in the domains of intimacy and emotional connection. The study highlights the importance of addressing relational dynamics to improve marital outcomes in PTSD-affected couples.

Keywords: intimacy, marital satisfaction, PTSD, relationship dynamics, trauma

Procedia PDF Downloads 21

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 257

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 578

Authors: Peter Jean-Paul, Shanaz Wahid

Abstract:

The problem of division by zero can be stated as: “what is the value of 0 x 1/0?” This expression has been considered undefined by mathematicians because it can have two equally valid solutions either 0 or 1. Recently semi-structured complex number set was invented to solve “division by zero”. However, whilst the number set had some merits it was considered to have a poor theoretical foundation and did not provide a quality solution to “division by zero”. Moreover, the set lacked consistency in simple algebraic calculations producing contradictory results when dividing by zero. To overcome these issues this research starts by treating the expression " 0 x 1/0" as a quantum mechanical system that produces two tangled results 0 and 1. Dirac Notation (a tool from quantum mechanics) was then used to redefine the unstructured unit p in semi-structured complex numbers so that p represents the superposition of two results (0 and 1) and collapses into a single value when used in algebraic expressions. In the process, this paper describes a new number set called Quantum Semi-structured Complex Numbers that provides a valid solution to the problem of “division by zero”. This research shows that this new set (1) forms a “Field”, (2) can produce consistent results when solving division by zero problems, (3) can be used to accurately describe systems whose mathematical descriptions involve division by zero. This research served to provide a firm foundation for Quantum Semi-structured Complex Numbers and support their practical use.

Keywords: division by zero, semi-structured complex numbers, quantum mechanics, Hilbert space, Euclidean space

Procedia PDF Downloads 157

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 109

Authors: Abdulwahhab Khedr, Tamer Shehata, Hanaa El-Ghamry

Abstract:

Venlafaxine HCl is a novel antidepressant drug used in the treatment of major depressive disorder, generalized anxiety disorder, social anxiety disorder and panic disorder. Conventional therapeutic regimens with venlafaxine HCl immediate-release dosage forms require frequent dosing due to short elimination half-life of the drug and reduced bioavailability. Hence, this study was carried out to develop sustained-release dosage forms of venlafaxine HCl to reduce its dosing frequency, to improve patient compliance and to reduce side effects of the drug. The polymers used were hydroxypropylmethyl cellulose, xanthan gum, sodium alginate, sodium carboxymethyl cellulose, Carbopol 940 and ethyl cellulose. The physical properties of the prepared tablets including tablet thickness, diameter, weight uniformity, content uniformity, hardness and friability were evaluated. Also, the in-vitro release of venlafaxine HCl from different matrix tablets was studied. Based on physical characters and in-vitro release profiles, certain formulae showing promising sustained-release profiles were subjected to film coating with 15% w/v EC in dichloromethane/ethanol mixture (1:1 ratio) using 1% w/v HPMC as pore former and 30% w/w dibutyl phthalate as plasticizer. The optimized formulations were investigated for drug-excipient compatibility using FTIR and DSC studies. Physical evaluation of the prepared tablets fulfilled the pharmacopoeial requirements for tablet friability test, where the weight loss of the prepared formulae did not exceed 1% of the weight of the tested tablets. Moderate release was obtained from tablets containing HPMC. FTIR and DSC studies for such formulae revealed the absence of any type of chemical interaction between venlafaxine HCl and the used polymers or excipients. Forced swimming test in rats was used to evaluate the antidepressant activity of the selected matrix tablets of venlafaxine HCl. Results showed that formulations significantly decreased the duration of animals’ immobility during the 24 hr-period of the test compared to non-treated group.

Keywords: antidepressant, sustained-release, matrix tablet, venlafaxine hydrochloride

Procedia PDF Downloads 241

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 284

Authors: Ömer Tamer, Davut Avcı, Yusuf Atalay

Abstract:

Novel picolinate complex of manganese(II) ion, [Mn(pic)2] [pic: picolinate or 2-pyridinecarboxylate], was prepared and fully characterized by single crystal X-ray structure determination. The manganese(II) complex was characterized by FT-IR, FT-Raman and UV–Vis spectroscopic techniques. The C=O, C=N and C=C stretching vibrations were found to be strong and simultaneously active in IR and spectra. In order to support these experimental techniques, density functional theory (DFT) calculations were performed at Gaussian 09W. Although the supramolecular interactions have some influences on the molecular geometry in solid state phase, the calculated data show that the predicted geometries can reproduce the structural parameters. The molecular modeling and calculations of IR, Raman and UV-vis spectra were performed by using DFT levels. Nonlinear optical (NLO) properties of synthesized complex were evaluated by the determining of dipole moment (µ), polarizability (α) and hyperpolarizability (β). Obtained results demonstrated that the manganese(II) complex is a good candidate for NLO material. Stability of the molecule arising from hyperconjugative interactions and charge delocalization was analyzed using natural bond orbital (NBO) analysis. The highest occupied and the lowest unoccupied molecular orbitals (HOMO and LUMO) which is also known the frontier molecular orbitals were simulated, and obtained energy gap confirmed that charge transfer occurs within manganese(II) complex. Molecular electrostatic potential (MEP) for synthesized manganese(II) complex displays the electrophilic and nucleophilic regions. From MEP, the the most negative region is located over carboxyl O atoms while positive region is located over H atoms.

Keywords: DFT, picolinate, IR, Raman, nonlinear optic

Procedia PDF Downloads 500

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 375

Authors: Dechen Tshering Vogel, Johannes T. Heverhagen, Bernard Kiss, Spyridon Arampatzis

Abstract:

In addition to computed tomography (CT), contrast enhanced ultrasound (CEUS), and magnetic resonance imaging (MRI) are being increasingly used for imaging of renal lesions. The aim of this prospective study was to compare the classification of complex cystic renal lesions using the Bosniak classification with CEUS and MRI to CT. Forty-eight patients with 65 cystic renal lesions were included in this study. All participants signed written informed consent. The agreement between the Bosniak classifications of complex renal lesions ( ≥ BII-F) on CEUS and MRI were compared to that of CT and were tested using Cohen’s Kappa. Sensitivity, specificity, positive and negative predictive values (PPV/NPV) and the accuracy of CEUS and MRI compared to CT in the detection of complex renal lesions were calculated. Twenty-nine (45%) out of 65 cystic renal lesions were classified as complex using CT. The agreement between CEUS and CT in the classification of complex cysts was fair (agreement 50.8%, Kappa 0.31), and was excellent between MRI and CT (agreement 93.9%, Kappa 0.88). Compared to CT, MRI had a sensitivity of 96.6%, specificity of 91.7%, a PPV of 54.7%, and an NPV of 54.7% with an accuracy of 63.1%. The corresponding values for CEUS were sensitivity 100.0%, specificity 33.3%, PPV 90.3%, and NPV 97.1% with an accuracy 93.8%. The classification of complex renal cysts based on MRI and CT scans correlated well, and MRI can be used instead of CT for this purpose. CEUS can exclude complex lesions, but due to higher sensitivity, cystic lesions tend to be upgraded. However, it is useful for initial imaging, for follow up of lesions and in those patients with contraindications to CT and MRI.

Keywords: Bosniak classification, computed tomography, contrast enhanced ultrasound, cystic renal lesions, magnetic resonance imaging

Procedia PDF Downloads 144

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 392

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 190