Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Sahar El Shair, Laura Greco, William Reay, Murray Cairns

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Background: Rheumatoid arthritis (RA) is a chronic, systematic, inflammatory, autoimmune disease that involves damages to joints and erosions to the associated bones and cartilage, resulting in reduced physical function and disability. RA is a multifactorial disorder influenced by heterogenous genetic and environmental factors. Whilst different medications have proven successful in reducing inflammation associated with RA, they often come with significant side effects and limited efficacy. To address this, the novel pharmagenic enrichment score (PES) algorithm was tested in self-reported RA patients from the UK Biobank (UKBB), which is a cohort of predominantly European ancestry, and identified individuals with a high genetic risk in clinically actionable biological pathways to identify novel opportunities for precision interventions and drug repurposing to treat RA. Methods and materials: Genetic association data for rheumatoid arthritis was derived from publicly available genome-wide association studies (GWAS) summary statistics (N=97173). The PES framework exploits competitive gene set enrichment to identify pathways that are associated with RA to explore novel treatment opportunities. This data is then integrated into WebGestalt, Drug Interaction database (DGIdb) and DrugBank databases to identify existing compounds with existing use or potential for repurposed use. The PES for each of these candidates was then profiled in individuals with RA in the UKBB (Ncases = 3,719, Ncontrols = 333,160). Results A total of 209 pathways with known drug targets after multiple testing correction were identified. Several pathways, including interferon gamma signaling and TID pathway (which relates to a chaperone that modulates interferon signaling), were significantly associated with self-reported RA in the UKBB when adjusting for age, sex, assessment centre month and location, RA polygenic risk and 10 principal components. These pathways have a major role in RA pathogenesis, including autoimmune attacks against certain citrullinated proteins, synovial inflammation, and bone loss. Encouragingly, many also relate to the mechanism of action of existing RA medications. The analyses also revealed statistically significant association between RA polygenic scores and self-reported RA with individual PES scorings, highlighting the potential utility of the PES algorithm in uncovering additional genetic insights that could aid in the identification of individuals at risk for RA and provide opportunities for more targeted interventions. Conclusions In this study, pharmacologically annotated genetic risk was explored through the PES framework to overcome inter-individual heterogeneity and enable precision drug repurposing in RA. The results showed a statistically significant association between RA polygenic scores and self-reported RA and individual PES scorings for 3,719 RA patients. Interestingly, several enriched PES pathways were targeted by already approved RA drugs. In addition, the analysis revealed genetically supported drug repurposing opportunities for future treatment of RA with a relatively safe profile.

Keywords: rheumatoid arthritis, precision medicine, drug repurposing, system biology, bioinformatics

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Authors: T. S. Sowmya Bhaskaran, Shekhar Seshadri

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This study aims to study the clinical features of with a history of Child Sexual Abuse (CSA). A chart review of 40 children (<16 years) with history of CSA evaluated at the Department of Child and Adolescent Psychiatry of NIMHANS during a two year period was performed. Results:The most common form of abuse was contact penetrative abuse (65%) followed by non-contact penetrative abuse (32.5%). 75% (N=30) had a psychiatric diagnosis at baseline. 50% of these children had one or more psychiatric comorbidities. Anxiety disorder was the most common diagnosis (27.5%) which included PTSD (11%) followed by Depressive disorder (25.2%). Children abused by multiple perpetrators were found to be more likely to have depression, to having a comorbid psychiatric disorder and more prone to exhibit sexualized behaviour. Children who also experienced physical violence at home were more likely to develop psychiatric illness following child sexual abuse. Psychiatric morbidity is high in clinic population of children with history of CSA. It is important to increase the awareness regarding the consequences of CSA in order to increase help seeking.

Keywords: child sexual abuse, India, tertiary care centre, clinical characteristics

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Authors: Ekin Nurbaş

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One of the essential challenges in array signal processing, which has drawn enormous research interest over the past several decades, is estimating the direction of arrival (DOA) of plane waves impinging on an array of sensors. In recent years, the Compressive Sensing based DoA estimation methods have been proposed by researchers, and it has been discovered that the Compressive Sensing (CS)-based algorithms achieved significant performances for DoA estimation even in scenarios where there are multiple coherent sources. On the other hand, the Genetic Algorithm, which is a method that provides a solution strategy inspired by natural selection, has been used in sparse representation problems in recent years and provides significant improvements in performance. With all of those in consideration, in this paper, a method that combines the Genetic Algorithm (GA) and the Multi-Criteria Decision Making (MCDM) approaches for Direction of Arrival (DoA) estimation in the Compressive Sensing (CS) framework is proposed. In this method, we generate a multi-objective optimization problem by splitting the norm minimization and reconstruction loss minimization parts of the Compressive Sensing algorithm. With the help of the Genetic Algorithm, multiple non-dominated solutions are achieved for the defined multi-objective optimization problem. Among the pareto-frontier solutions, the final solution is obtained with the multiple MCDM methods. Moreover, the performance of the proposed method is compared with the CS-based methods in the literature.

Keywords: genetic algorithm, direction of arrival esitmation, multi criteria decision making, compressive sensing

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Authors: Seema Singh Parmar, Shweta Chauhan

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Aims & Objectives: To evaluate the presence of various psychiatric disorders in patients reporting with a headache as the only symptom. Methodology: 200 patients with the chief complain of a headache who visited the psychiatric OPD of a tertiary care were investigated. Out of them 50 who had pure psychiatric illness without any other neurological disease were investigated, and their diagnosis was made. Independent sample t-tests were applied to generate results. Results: The most common psychiatric diagnosis seen in the sample was Depression (64%) out of which 47% showed features of Depression with anxious distress. Other psychiatric disorders seen were Generalized Anxiety Disorder, Panic Attacks, Somatic Symptom Disorder and Obsessive Compulsive Disorder. For pure psychiatry, headache related illnesses female to male ratio was 1.64. Conclusion: The increasing frequency of psychiatric disorders among patients who only visit the doctor seeking treat a headache shows the need for better identification of psychiatric disorders because proper diagnosis and target of psychiatric treatment shall give complete relief to the patient’s symptomatology.

Keywords: anxiety disorders, depression, headache, panic attacks

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Authors: Salinee Thumronglaohapun

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The proper number and appropriate locations of service centers can save cost, raise revenue and gain more satisfaction from customers. Establishing service centers is high-cost and difficult to relocate. In long-term planning periods, several factors may affect the service. One of the most critical factors is uncertain demand of customers. The opened service centers need to be capable of serving customers and making a profit although the demand in each period is changed. In this work, the capacitated location-allocation problem with stochastic demand is considered. A mathematical model is formulated to determine suitable locations of service centers and their allocation to maximize total profit for multiple planning periods. Two heuristic methods, a local search and genetic algorithm, are used to solve this problem. For the local search, five different chances to choose each type of moves are applied. For the genetic algorithm, three different replacement strategies are considered. The results of applying each method to solve numerical examples are compared. Both methods reach to the same best found solution in most examples but the genetic algorithm provides better solutions in some cases.

Keywords: location-allocation problem, stochastic demand, local search, genetic algorithm

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Authors: Fayyaz Rasool, Shakeela Parveen

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The studies on genetic diversity of Labeo rohita by using molecular markers were carried out to investigate the genetic structure by RAPAD marker and the levels of polymorphism and similarity amongst the different groups of five populations of wild and farmed types. The samples were collected from different five locations as representatives of wild and hatchery raised populations. RAPAD data for Jaccard’s coefficient by following the un-weighted Pair Group Method with Arithmetic Mean (UPGMA) for Hierarchical Clustering of the similar groups on the basis of similarity amongst the genotypes and the dendrogram generated divided the randomly selected individuals of the five populations into three classes/clusters. The variance decomposition for the optimal classification values remained as 52.11% for within class variation, while 47.89% for the between class differences. The Principal Component Analysis (PCA) for grouping of the different genotypes from the different environmental conditions was done by Spearman Varimax rotation method for bi-plot generation of the co-occurrence of the same genotypes with similar genetic properties and specificity of different primers indicated clearly that the increase in the number of factors or components was correlated with the decrease in eigenvalues. The Kaiser Criterion based upon the eigenvalues greater than one, first two main factors accounted for 58.177% of cumulative variability.

Keywords: variation, clustering, PCA, wild, hatchery, RAPAD, Labeo rohita

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Authors: Thibaud Berthomier, Ali Mansour, Luc Bressollette, Frédéric Le Roy, Dominique Mottier, Léo Fréchier, Barthélémy Hermenault

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Deep Venous Thrombosis (DVT) occurs when a thrombus is formed within a deep vein (most often in the legs). This disease can be deadly if a part or the whole thrombus reaches the lung and causes a Pulmonary Embolism (PE). This disorder, often asymptomatic, has multifactorial causes: immobilization, surgery, pregnancy, age, cancers, and genetic variations. Our project aims to relate the thrombus epidemiology (origins, patient predispositions, PE) to its structure using ultrasound images. Ultrasonography and elastography were collected using Toshiba Aplio 500 at Brest Hospital. This manuscript compares two classification approaches: spectral clustering and scattering operator. The former is based on the graph and matrix theories while the latter cascades wavelet convolutions with nonlinear modulus and averaging operators.

Keywords: deep venous thrombosis, ultrasonography, elastography, scattering operator, wavelet, spectral clustering

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Authors: Naouelle Azzag, Nadia Haddad, Benoit Durand, Elisabeth Petit, Ali Ammouche, Bruno Chomel, Henri J. Boulouis

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Bartonella henselae is a small, gram negative, arthropod-borne bacterium that has been shown to cause multiple clinical manifestations in humans including cat scratch disease, bacillary angiomatosis, endocarditis, and bacteremia. In this research, we report the results of a cross sectional study of Bartonella henselae bacteremia in stray cats from Algiers. Whole blood of 227 stray cats from Algiers was tested for the presence of Bartonella species by culture and for the evaluation of the genetic diversity of B. henselae strains by multi-locus variable number of tandem repeats assay (MLVA). Bacteremia prevalence was 17% and only B. henselae was identified. Type I was the predominant type (64%). MLVA typing of 259 strains from 30 bacteremic cats revealed 52 different profiles. 51 of these profiles were specific to Algerian cats/identified for the first time. 20/30 cats (67%) harbored 2 to 7 MLVA profiles simultaneously. The similarity of MLVA profiles obtained from the same cat, neighbor-joining clustering and structure-neighbor clustering showed that such a diversity likely results from two different mechanisms occurring either independently or simultaneously independent infections and genetic drift from a primary strain.

Keywords: Bartonella, cat, MLVA, genetic

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Authors: Öznur Özge Özcan, Canan Sercan, Hamza Kulaksız, Mesut Karahan, Korkut Ulucan

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Genetic structure is very important to understand the brain dopamine system which is related to athletic performance. Hopefully, there will be enough studies about athletics performance in the terms of addiction-related genetic markers in the future. In the present study, we intended to investigate the Receptor-2 Gene (DRD2) rs1800497, which is related to brain dopaminergic system. 10 sprinter and 10 endurance athletes were enrolled in the study. Real-Time Polymerase Chain Reaction method was used for genotyping. According to results, A1A1, A1A2 and A2A2 genotypes in athletes were 0 (%0), 3 (%15) and 17 (%85). A1A1 genotype was not found and A2 allele was counted as the dominating allele in our cohort. These findings show that dopaminergic mechanism effects on sport genetic may be explained by the polygenic and multifactorial view.

Keywords: addiction, athletic performance, genotype, sport genetics

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Authors: Michael R. Phangtriastu, Herriyandi Herriyandi, Diaz D. Santika

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This paper presents a comparison of the implementation of metaheuristic algorithms to train the antecedent parameters and consequence parameters in the adaptive network-based fuzzy inference system (ANFIS). The algorithms compared are genetic algorithm (GA), particle swarm optimization (PSO), and artificial bee colony (ABC). The objective of this paper is to benchmark well-known metaheuristic algorithms. The algorithms are applied to several data set with different nature. The combinations of the algorithms' parameters are tested. In all algorithms, a different number of populations are tested. In PSO, combinations of velocity are tested. In ABC, a different number of limit abandonment are tested. Experiments find out that ABC is more reliable than other algorithms, ABC manages to get better mean square error (MSE) than other algorithms in all data set.

Keywords: ANFIS, artificial bee colony, genetic algorithm, metaheuristic algorithm, particle swarm optimization

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Authors: Seyed Reza Aghili, Tahereh Shokohi, Shirin Sadat Hashemi Fesharaki, Mohammad Ali Boroumand, Bahar Salmanian

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Introduction: Intravenous catheter-associated fungal infection as nosocomial infection continue to be a deep problem among hospitalized patients, decreasing quality of life and adding healthcare costs. The capacity of catheters in the spread of candidemia in heart failure patients is obvious. The aim of this study was to evaluate the prevalence and genetic identification of Candida species in heart disorder patients. Material and Methods: This study was conducted in Tehran Hospital of Cardiology Center (Tehran, Iran, 2014) during 1.5 years on the patients hospitalized for at least 7 days and who had central or peripheral vein catheter. Culture of catheters, blood and skin of the location of catheter insertion were applied for detecting Candida colonies in 223 patients. Identification of Candida species was made on the basis of a combination of various phenotypic methods and confirmed by sequencing the ITS1-5.8S-ITS2 region amplified from the genomic DNA using PCR and the NCBI BLAST. Results: Of the 223 patients samples tested, we identified totally 15 Candida isolates obtained from 9 (4.04%) catheter cultures, 3 (1.35%) blood cultures and 2 (0.90%) skin cultures of the catheter insertion areas. On the base of ITS region sequencing, out of nine Candida isolates from catheter, 5(55.6%) C. albicans, 2(22.2%) C. glabrata, 1(11.1%) C. membranifiaciens and 1 (11.1%) C. tropicalis were identified. Among three Candida isolates from blood culture, C. tropicalis, C. carpophila and C. membranifiaciens were identified. Non-candida yeast isolated from one blood culture was Cryptococcus albidus. One case of C. glabrata and one case of Candida albicans were isolated from skin culture of the catheter insertion areas in patients with positive catheter culture. In these patients, ITS region of rDNA sequence showed a similarity between Candida isolated from the skin and catheter. However, the blood samples of these patients were negative for fungal growth. We report two cases of catheter-related candidemia caused by C. membranifiaciens and C. tropicalis on the base of genetic similarity of species isolated from blood and catheter which were treated successfully with intravenous fluconazole and catheter removal. In phenotypic identification methods, we could only identify C. albicans and C. tropicalis and other yeast isolates were diagnosed as Candida sp. Discussion: Although more than 200 species of Candida have been identified, only a few cause diseases in humans. There is some evidence that non-albicans infections are increasing. Many risk factors, including prior antibiotic therapy, use of a central venous catheter, surgery, and parenteral nutrition are considered to be associated with candidemia in hospitalized heart failure patients. Identifying the route of infection in candidemia is difficult. Non-albicans candida as the cause of candidemia is increasing dramatically. By using conventional method, many non-albicans isolates remain unidentified. So, using more sensitive and specific molecular genetic sequencing to clarify the aspects of epidemiology of the unknown candida species infections is essential. The positive blood and catheter cultures for candida isolates and high percentage of similarity of their ITS region of rDNA sequence in these two patients confirmed the diagnosis of intravenous catheter-associated candidemia.

Keywords: catheter-associated infections, heart failure patient, molecular genetic sequencing, ITS region of rDNA, Candidemia

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Authors: Surya Prasad Sharma, Suyash Katdare, Syed Ainul Hussain

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Human-induced factors contributed to the population decline of crocodylians in India which became evident by the mid-20th century when authorities forewarned the extinction risk for the crocodile and proposed regulation in the crocodile trade. The proposed action led to the enactment of national and international wildlife regulations to prohibit the trade-in of crocodile skins and parts. Subsequently, conservation translocation programs were initiated to restore the species in the wild through a 'head-start' approach. In India, the crocodile conservation program, which began in the early 1970s, has been one of India's longest-running conservation initiatives. The gharial (Gavialis gangeticus) population has benefitted, and the gharial number increased rapidly owing to these efforts. The immediate risk of extinction was averted as the gharial has recovered due to decades-long cumulative conservation efforts, the consideration of the genetic for monitoring the recovery of the recovered populations is still lacking. Hence, we assessed the genetic diversity of the Girwa gharial population in India using six polymorphic nuclear microsatellites loci and mitochondrial control region. The number of alleles per loci ranged between 2 to 5, and the allelic richness (Ar) was 2.67 ± 0.49, and the observed (Ho) and expected (He) heterozygosities were 0.42 ± 0.08 and 0.42 ± 0.09, respectively. The M-ratio yielded a value of (0.41 ± 0.16) lower than critical M, suggesting a genetic bottleneck in the Girwa population. We observed more mitochondrial control region haplotypes in the Girwa population than previously reported in the largest gharial population in the Chambal River. Overall, our study indicates that genetic diversity remains low despite the recovery in the Girwa population. Hence, we recommend a range-wide genetic assessment of gharial populations using high-throughput techniques to identify the source population and plan future translocation programs.

Keywords: conservation translocation, recovery, crocodile, bottleneck

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Authors: Sa’adu Mafara Abubakar, Muhammad Nuraddeen Danjuma, Adewole Tomiwa Adetunji, Richard Mundembe, Salisu Mohammed, Francis Bayo Lewu, Joseph I. Kiok

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Pearl millet is the most drought tolerant of all domesticated cereals, is cultivated extensively to feed millions of people who mainly live in hash agroclimatic zones. It serves as a major source of food for more than 40 million smallholder farmers living in the marginal agricultural lands of Northern Nigeria. Pearl millet grain is more nutritious than other cereals like maize, is also a principal source of energy, protein, vitamins, and minerals for millions of poorest people in the regions where it is cultivated. Pearl millet has recorded relatively little research attention compared with other crops and no sufficient work has analyzed its genetic diversity in north-western Nigeria. Therefore, this study was undertaken with the objectives to analyze the genetic diversity of pearl millet accessions using SSR marker and to analyze the extent of evolutionary relationship among pearl millet accessions at the molecular level. The result of the present study confirmed diversity among accessions of pearl millet in the study area. Simple Sequence Repeats (SSR) markers were used for genetic analysis and evolutionary relationship of the accessions of pearl millet. To analyze the level of genetic diversity, 8 polymorphic SSR markers were used to screen 69 accessions collected based on three maturity periods. SSR markers result reveal relationships among the accessions in terms of genetic similarities, evolutionary and ancestral origin, it also reveals a total of 53 alleles recorded with 8 microsatellites and an average of 6.875 per microsatellite, the range was from 3 to 9 alleles in PSMP2248 and PSMP2080 respectively. Moreover, both the factorial analysis and the dendrogram of phylogeny tree grouping patterns and cluster analysis were almost in agreement with each other that diversity is not clustering according to geographical patterns but, according to similarity, the result showed maximum similarity among clusters with few numbers of accessions. It has been recommended that other molecular markers should be tested in the same study area.

Keywords: pearl millet, genetic diversity, simple sequence repeat (SSR)

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Authors: Abul Kayum Zarzis Alam

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Death is not a terminal; it is just a junction. From Agamas to Vedas, from Buddhism to Judaism, all the major scriptures and religions of the world always do converge to this hypothesis of death. Death is the ultimate catastrophe of life and it is the genesis of every religion on this Earth. Several hundred thousand years ago, the Homo Sapiens in Paleolithic age introduced the notion of religion on this Earth in its most primitive form just to escape from death and natural catastrophes through their belief in supernatural things which created the sense of superstition among the Homo Sapiens which has only increased over time. This sense of superstition and belief in supernatural things are building blocks of religion. Religion is like entropy, a degree of disorder. Entropy for an irreversible system like our own Universe always increases. Same is happening to our human civilization where the disorder had been increasing over time. The degree of this disorder of human civilization is religion divides and conquers over the human civilization of Earth. Religion is the human entropy which had been governing and will govern us. Just like entropy, religion is also an essential intrinsic property of the system which makes the system evolved. We have to optimize this ambivalence of the human entropy to make our civilization an inclusive and sustainable one.

Keywords: death, earth, entropy, Homo sapiens, religion and human entropy

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Authors: Fadzil Ahmad, Noor Ashidi Mat Isa

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This study introduces an improved genetic algorithm procedure that focuses search around near optimal solution corresponded to a group of elite chromosome. This is achieved through a novel crossover technique known as Segmented Multi Chromosome Crossover. It preserves the highly important information contained in a gene segment of elite chromosome and allows an offspring to carry information from gene segment of multiple chromosomes. In this way the algorithm has better possibility to effectively explore the solution space. The improved GA is applied for the automatic and simultaneous parameter optimization and feature selection of artificial neural network in pattern recognition of medical problem, the cancer and diabetes disease. The experimental result shows that the average classification accuracy of the cancer and diabetes dataset has improved by 0.1% and 0.3% respectively using the new algorithm.

Keywords: genetic algorithm, artificial neural network, pattern clasification, classification accuracy

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Authors: Jarmila Bernasovska, Pavel Ružbarský, Ivan Bernasovsky, Regina Lohajová Behulová

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The paper presents the results of the application of molecular genetics methods in sport research, with special emphasis on the most advanced methods and trends in diagnosing of motoric predispositions for the sake of identifying talented children. Genetic tests differ in principle from the traditional motoric tests, because the DNA of an individual does not change during life. Genetics is important in determining the capacity of an individual and for professional sport level. Genetic information can be used for individual genetic predispositions in early childhood. The phenotypes are influenced by a combination of genetic and environmental factors. The aim of the presented study was to examine physical condition, coordination skills, motoric docility and to determine the frequency of ACTN3 (R577X) gene in Romany children from Eastern Slovakia and compared their motoric performance with non-Romany children. This paper is not looking just for a performance, but also its association to genetic predispositions in relation to ACTN3 gene and its R577X polymorphism. Genotype data were obtained from 175 Romany children from 6 to 15 years old and 218 non-Romany children at the same age from Eastern Slovakia. Biological material for genetic analyses comprised samples of buccal swabs. Genotypes were determined using Real Time High resolution melting PCR method (Rotor Gene 6000 Corbett and LightCycler 480 Roche). Romany children of analyzed group legged to non-Romany children at the same age in all the compared tests. The % distribution of R and X alleles in children was different from controls. The frequency of XX genotype was 11,45% which is comparable to a frequency of an Indian population. Data were analysed with the ANOVA statistical programme and parametric and nonparametric tests. This work was supported by grants APVV-0716-10, ITMS 26220120023 and ITMS 26220120041.

Keywords: ACTN3 gene, R577X polymorphism, Romany children, sport performance, Slovakia

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Authors: Zahra Khalid, Gul Muhammad Khan, Arbab Masood Ahmad

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Cartesian Genetic Programming (CGP) is explored to design an optimal circuit capable of early stage breast cancer detection. CGP is used to evolve simple multiplexer circuits for detection of malignancy in the Fine Needle Aspiration (FNA) samples of breast. The data set used is extracted from Wisconsins Breast Cancer Database (WBCD). A range of experiments were performed, each with different set of network parameters. The best evolved network detected malignancy with an accuracy of 99.14%, which is higher than that produced with most of the contemporary non-linear techniques that are computational expensive than the proposed system. The evolved network comprises of simple multiplexers and can be implemented easily in hardware without any further complications or inaccuracy, being the digital circuit.

Keywords: breast cancer detection, cartesian genetic programming, evolvable hardware, fine needle aspiration

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Authors: Noor Ayuni Che Zakaria, Takashi Komeda, Cheng Yee Low, Kaoru Inoue, Fazah Akhtar Hanapiah

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Previous studies have shown that there are arguments regarding the reliability and validity of the Ashworth and Modified Ashworth Scale towards evaluating patients diagnosed with upper limb disorders. These evaluations depended on the raters’ experiences. This initiated us to develop an upper limb disorder part-task trainer that is able to simulate consistent upper limb disorders, such as spasticity and rigidity signs, based on the Modified Ashworth Scale to improve the variability occurring between raters and intra-raters themselves. By providing consistent signs, novice therapists would be able to increase training frequency and exposure towards various levels of signs. A total of 22 physiotherapists and occupational therapists participated in the study. The majority of the therapists agreed that with current therapy education, they still face problems with inter-raters and intra-raters variability (strongly agree 54%; n = 12/22, agree 27%; n = 6/22) in evaluating patients’ conditions. The therapists strongly agreed (72%; n = 16/22) that therapy trainees needed to increase their frequency of training; therefore believe that our initiative to develop an upper limb disorder training tool will help in improving the clinical education field (strongly agree and agree 63%; n = 14/22).

Keywords: upper limb disorder, clinical education tool, inter/intra-raters variability, spasticity, modified Ashworth scale

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

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Authors: J. Vinay , Kusumbati Besra, Niharika Pattnaik, Shivaram Prasad Singh, Manjusha Dixit

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Gallbladder cancer (GBC) is rare but highly malignant cancer; its prevalence is more in certain geographical regions and ethnic groups, which include the Northern and Eastern states of India. Previous studies in India have reported genetic predisposition as one of the risk factors in GBC pathogenesis. Although the matrix metalloproteinase-14 (MMP14) is a well-known modulator of the tumor microenvironment and tumorigenesis and TCGA data also suggests its upregulation yet, its role in the genetic predisposition for GBC is completely unknown. We elucidated the role of MMP14 promoter variants as genetic risk factors and their implications in expression modulation. We screened MMP14 promoter variants association with GBC using Sanger’s sequencing in approximately 300 GBC and 300 control subjects and 26 GBC tissue samples of Indian ethnicity. The immunohistochemistry was used to check the MMP14 protein expression in GBC tissue samples. The role of promoter variants on expression levels was elucidated using a luciferase reporter assay. The variants rs1004030 (p-value = 0.0001) and rs1003349 (p-value = 0.0008) were significantly associated with gallbladder cancer. The luciferase assay in two different cell lines, HEK-293 (p = 0.0006) and TGBC1TKB (p = 0.0036) showed a significant increase in relative luciferase activity in the presence of risk alleles for both the single nucleotide polymorphisms (SNPs). Similarly, genotype-phenotype correlation in patients samples confirmed that the presence of risk alleles at rs1004030 and rs1003349 increased MMP14 expression. Overall, this study unravels the genetic association of MMP14 promoter variants with gallbladder cancer, which may contribute to pathogenesis by increasing its expression.

Keywords: gallbladder cancer, matrix metalloproteinase-14, single nucleotide polymorphism, case control study, genetic association study

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Authors: Paul J. McKay

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Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.

Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)

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Authors: Vinicius Binotte, Guilherme Baldo, Christiane Goulart, Carlos Valadão, Eliete Caldeira, Teodiano Bastos

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Socially assistive robotic has become increasingly active and it is present in therapies of people affected for several neurobehavioral conditions, such as Autism Spectrum Disorder (ASD). In fact, robots have played a significant role for positive interaction with children with ASD, by stimulating their social and cognitive skills. This work introduces a mobile socially-assistive robot, which was built for interaction with children with ASD, using non-linear control techniques for this interaction.

Keywords: socially assistive robotics, mobile robot, autonomous control, autism

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Authors: Ipek Sensu

Abstract:

Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

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Authors: Ali Nourollah, Mohsen Movahedinejad

Abstract:

In this paper a new algorithm to generate random simple polygons from a given set of points in a two dimensional plane is designed. The proposed algorithm uses a genetic algorithm to generate polygons with few vertices. A new merge algorithm is presented which converts any two polygons into a simple polygon. This algorithm at first changes two polygons into a polygonal chain and then the polygonal chain is converted into a simple polygon. The process of converting a polygonal chain into a simple polygon is based on the removal of intersecting edges. The merge algorithm has the time complexity of O ((r+s) *l) where r and s are the size of merging polygons and l shows the number of intersecting edges removed from the polygonal chain. It will be shown that 1 < l < r+s. The experiments results show that the proposed algorithm has the ability to generate a great number of different simple polygons and has better performance in comparison to celebrated algorithms such as space partitioning and steady growth.

Keywords: Divide and conquer, genetic algorithm, merge polygons, Random simple polygon generation.

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Authors: Jorge A. Ruiz-Vanoye, Ocotlán Díaz-Parra, Alejandro Fuentes-Penna, Daniel Vélez-Díaz, Edith Olaco García

Abstract:

In this paper, we present the use of the discriminant analysis to select evolutionary algorithms that better solve instances of the vehicle routing problem with time windows. We use indicators as independent variables to obtain the classification criteria, and the best algorithm from the generic genetic algorithm (GA), random search (RS), steady-state genetic algorithm (SSGA), and sexual genetic algorithm (SXGA) as the dependent variable for the classification. The discriminant classification was trained with classic instances of the vehicle routing problem with time windows obtained from the Solomon benchmark. We obtained a classification of the discriminant analysis of 66.7%.

Keywords: Intelligent Transportation Systems, data-mining techniques, evolutionary algorithms, discriminant analysis, machine learning

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Authors: Gabriele Barrocas, Habon Issa

Abstract:

The amygdala is one of various brain regions that tend to be pathological in individuals with autism spectrum disorder (ASD). ASD is a prevalent and heterogeneous developmental disorder affecting all ethnic and socioeconomic groups and consists of a broad range of severity, etiology, and behavioral symptoms. Common features of ASD include but are not limited to repetitive behaviors, obsessive interests, and anxiety. Neuroscientists view the amygdala as the core of the neural system that regulates behavioral responses to anxiogenic and threatening stimuli. Despite this consensus, many previous studies and literature reviews on the amygdala’s alterations in individuals with ASD have reported inconsistent findings. In this review, we will address these conflicts by highlighting recent studies which reveal that anatomical and related socio-emotional differences detected between individuals with and without ASD are highly age-dependent. We will specifically discuss studies using functional magnetic resonance imaging (fMRI), structural MRI, and diffusion tensor imaging (DTI) to provide insights into the neuroanatomical substrates of ASD across development, with a focus on amygdala volumes, cell densities, and connectivity.

Keywords: autism, amygdala, development, abnormalities

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Authors: A. Rattanapittayapron, O. Vanijajiva

Abstract:

Canna indica is a prominent species complex in tropical and subtropical areas. They become indigenous in Southeast Asia where they have been introduced. At present, C. indica complex comprises over hundred hybrids, are cultivated as commercial horticulture. The species complex contains starchy rhizome having economic value in terms of food and herbal medicine. In addition, bright color of the flowers makes it a valuable ornamental plant and potential source for natural colorant. This study aims to assess genetic diversity of four varieties of C. indica complex based on SRAP (sequence-related amplified polymorphism) and iPBS (inter primer binding site) markers. We also examined phytochemical characteristics and antioxidant properties of the flower extracts from four different color varieties. Results showed that despite of the genetic variation, there were no significant differences in phytochemical characteristics and antioxidant properties of flowers. The SRAP and iPBS results agree with the more primitive traits showed by morphological information and phytochemical and antioxidant characteristics from the flowers. Since Canna flowers has long been used as natural colorants together with the antioxidant activities from the ethanol extracts in this study, there are likely to be good source for cosmetics additives.

Keywords: Canna indica, antioxidant activity, genetic diversity, SRAP, iPBS

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Authors: Karthik Mittal

Abstract:

This study performs an unsupervised machine learning analysis to find clusters of related SNPs which highlight biological pathways that are important for the biological mechanisms of breast cancer. Studying genetic variations in isolation is illogical because these genetic variations are known to modulate protein production and function; the downstream effects of these modifications on biological outcomes are highly interconnected. After extracting the SNPs and their effect on different types of breast cancer using the MRBase library, two unsupervised machine learning clustering algorithms were implemented on the genetic variants: a k-means clustering algorithm and a hierarchical clustering algorithm; furthermore, principal component analysis was executed to visually represent the data. These algorithms specifically used the SNP’s beta value on the three different types of breast cancer tested in this project (estrogen-receptor positive breast cancer, estrogen-receptor negative breast cancer, and breast cancer in general) to perform this clustering. Two significant genetic pathways validated the clustering produced by this project: the MAPK signaling pathway and the connection between the BRCA2 gene and the ESR1 gene. This study provides the first proof of concept showing the importance of unsupervised machine learning in interpreting GWAS summary statistics.

Keywords: breast cancer, computational biology, unsupervised machine learning, k-means, PCA

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Authors: Emily C. Shepard, Caroline Sweeney, Jessica Grimm, Sophie Jacobs, Lauren Thompson, Lisa L. Weyandt

Abstract:

Adolescence is a critical phase of development in which individuals are prone to more risky behavior while also facing potentially life-changing decisions. The balance of increased behavioral risk and responsibility indicates the importance of executive functioning ability. In recent years, executive function training has emerged as a technique to enhance this cognitive ability. The aim of the present systematic review was to discuss the reported efficacy of executive functioning training techniques among adolescents. After reviewing 3110 articles, a total of 24 articles were identified which examined the role of executive functioning training techniques among adolescents (age 10-19). Articles retrieved demonstrated points of comparison across psychiatric and medical diagnosis, location of training, and stage of adolescence. Typically developing samples, as well as those with attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), conduct disorder, and physical health concerns were found, allowing for the comparison of the efficacy of techniques considering physical and psychological heterogeneity. Among typically developing adolescents, executive functioning training yielded nonsignificant or low effect size improvements in executive functioning, and in some cases executive functioning ability was decreased following the training. In special populations, including those with ADHD, (ASD), conduct disorder, and physical health concerns significant differences and larger effect sizes in executive functioning were seen following treatment, particularly among individuals with ADHD. Future research is needed to identify the long-term efficacy of these treatments, as well as their generalizability to real-world conditions.

Keywords: adolescence, attention-deficit hyperactivity disorder, executive function, executive function training, traumatic brain injury

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Authors: Naser B. Almari, Salem S. Alghamdi, Muhammad Afzal, Mohamed Helmy El Shal

Abstract:

Wheat landraces are a rich genetic resource for boosting agronomic qualities in breeding programs while also providing diversity and unique adaptation to local environmental conditions. These genotypes have grown increasingly important in the face of recent climate change challenges. This research aimed to look at the genetic diversity of Saudi Durum wheat landraces using morpho-phenological and molecular data. The principal components analysis (PCA) analysis recorded 78.47 % variance and 1.064 eigenvalues for the first six PCs of the total, respectively. The significant characters contributed more to the diversity are the length of owns at the tip relative to the length of the ear, culm: glaucosity of the neck, flag leaf: glaucosity of the sheath, flag leaf: anthocyanin coloration of auricles, plant: frequency of plants with recurved flag leaves, ear: length, and ear: shape in profile in the PC1. The significant wheat genotypes contributed more in the PC1 (8, 14, 497, 650, 569, 590, 594, 598, 600, 601, and 604). The cluster analysis recorded an 85.42 cophenetic correlation among the 22 wheat genotypes and grouped the genotypes into two main groups. Group, I contain 8 genotypes, however, the 2nd group contains 12 wheat genotypes, while two genotypes (13 and 497) are standing alone in the dendrogram and unable to make a group with any one of the genotypes. The second group was subdivided into two subgroups. The genotypes (14, 602, and 600) were present in the second sub-group. The genotypes were grouped into two main groups. The first group contains 17 genotypes, while the second group contains 3 (8, 977, and 594) wheat genotypes. The genotype (602) was standing alone and unable to make a group with any wheat genotype. The genotypes 650 and 13 also stand alone in the first group. Using the Mantel test, the data recorded a significant (R2 = 0.0006) correlation (phenotypic and genetic) among 22 wheat durum genotypes.

Keywords: durum wheat, PCA, cluster analysis, SRAP, genetic diversity

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