Search results for: non-coding variants

Authors: S. V. Boroznin, I. V. Zaporotskova, N. P. Polikarpova

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Studing of nanotubes sorption properties is very important for researching. These processes for carbon and boron nanotubes described in the high number of papers. But the sorption properties of boron containing nanotubes, susch as BC3-nanotubes haven’t been studied sufficiently yet. In this paper we present the results of theoretical research into the mechanism of atomic surface adsorption on the two types of boron-carbon nanotubes (BCNTs) within the framework of an ionic-built covalent-cyclic cluster model and an appropriately modified MNDO quantum chemical scheme and DFT method using B3LYP functional with 6-31G basis. These methods are well-known and the results, obtained using them, were in good agreement with the experiment. Also we studied three position of atom location above the nanotube surface. These facts suggest us to use them for our research and quantum-chemical calculations. We studied the mechanism of sorption of Cl, O and F atoms on the external surface of single-walled BC3 arm-chair nanotubes. We defined the optimal geometry of the sorption complexes and obtained the values of the sorption energies. Analysis of the band structure suggests that the band gap is insensitive to adsorption process. The electron density is located near atoms of the surface of the tube. Also we compared our results with others, which have been obtained earlier for pure carbon and boron nanotubes. The most stable adsorption complex has been between boron-carbon nanotube and oxygen atom. So, it suggests us to make a research of oxygen molecule adsorption on the BC3 nanotube surface. We modeled five variants of molecule orientation above the nanotube surface. The most stable sorption complex has been defined between the oxygen molecule and nanotube when the oxygen molecule is located above the nanotube surface perpendicular to the axis of the tube.

Keywords: Boron-carbon nanotubes, nanostructures, nanolayers, quantum-chemical calculations, nanoengineering

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Authors: Zhidong Zhang

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This study established a mixed method model in assessing statistics learning with Bayesian network models. There are three variants in exploratory sequential designs. There are three linked steps in one of the designs: qualitative data collection and analysis, quantitative measure, instrument, intervention, and quantitative data collection analysis. The study used a scoring model of analysis of variance (ANOVA) as a content domain. The research study is to examine students’ learning in both semantic and performance aspects at fine grain level. The ANOVA score model, y = α+ βx1 + γx1+ ε, as a cognitive task to collect data during the student learning process. When the learning processes were decomposed into multiple steps in both semantic and performance aspects, a hierarchical Bayesian network was established. This is a theory-driven process. The hierarchical structure was gained based on qualitative cognitive analysis. The data from students’ ANOVA score model learning was used to give evidence to the hierarchical Bayesian network model from the evidential variables. Finally, the assessment results of students’ ANOVA score model learning were reported. Briefly, this was a mixed method research design applied to statistics learning assessment. The mixed methods designs expanded more possibilities for researchers to establish advanced quantitative models initially with a theory-driven qualitative mode.

Keywords: exploratory sequential design, ANOVA score model, Bayesian network model, mixed methods research design, cognitive analysis

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Authors: Techale B., Hongxu Dong, Mihrete Getinet, Aregash Gabizew, Andrew H. Paterson, Kassahun Bantte

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The genetic architecture of drought tolerance is expected to involve multiple loci that are unlikely to all segregate for alternative alleles in a single bi-parental population. Therefore, the identification of quantitative trait loci (QTL) that are expressed in diverse genetic backgrounds of multiple bi-parental populations provides evidence about both background-specific and common genetic variants. The purpose of this study was to map QTL related to drought tolerance using three connected mapping populations of different genetic backgrounds to gain insight into the genomic landscape of this important trait in elite Ethiopian germplasm. The three bi-parental populations, each with 207 F₂:₃ lines, were evaluated using an alpha lattice design with two replications under two moisture stress environments. Drought tolerance related traits were analyzed separately for each population using composite interval mapping, finding a total of 105 QTLs. All the QTLs identified from individual populations were projected on a combined consensus map, comprising a total of 25 meta QTLs for seven traits. The consensus map allowed us to deduce locations of a larger number of markers than possible in any individual map, providing a reference for genetic studies in different genetic backgrounds. The mQTL identified in this study could be used for marker-assisted breeding programs in sorghum after validation. Only one trait, reduced leaf senescence, showed a striking bias of allele distribution, indicating substantial standing variation among present varieties that might be employed in improving drought tolerance of Ethiopian and other sorghums.

Keywords: Drought tolerance , Mapping populations, Meta QTL, QTL mapping, Sorghum

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Authors: Janos Juhasz, Sandor Pongor, Balazs Ligeti

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Next-generation sequencing, especially whole genome shotgun sequencing, is becoming a common approach to gain insight into the microbiomes in a culture-independent way, even in clinical practice. It does not only give us information about the species composition of an environmental sample but opens the possibility to detect antimicrobial resistance and novel, or currently unknown, pathogens. Accurately and reliably detecting the microbial strains is a challenging task. Here we present a sensitive approach for detecting pathogens in metagenomics samples with special regard to detecting novel variants of known pathogens. We have developed a pipeline that uses fast, short read aligner programs (i.e., Bowtie2/BWA) and comprehensive nucleotide databases. Taxonomic binning is based on the lowest common ancestor (LCA) principle; each read is assigned to a taxon, covering the most significantly hit taxa. This approach helps in balancing between sensitivity and running time. The program was tested both on experimental and synthetic data. The results implicate that our method performs as good as the state-of-the-art BLAST-based ones, furthermore, in some cases, it even proves to be better, while running two orders magnitude faster. It is sensitive and capable of identifying taxa being present only in small abundance. Moreover, it needs two orders of magnitude less reads to complete the identification than MetaPhLan2 does. We analyzed an experimental anthrax dataset (B. anthracis strain BA104). The majority of the reads (96.50%) was classified as Bacillus anthracis, a small portion, 1.2%, was classified as other species from the Bacillus genus. We demonstrate that the evaluation of high-throughput sequencing data is feasible in a reasonable time with good classification accuracy.

Keywords: metagenomics, taxonomy binning, pathogens, microbiome, B. anthracis

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Authors: Syed Toqueer Akhter, Rabia Zulfiqar

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This paper attempts to trace the determining factor- as far as individual preferences and expectations are concerned- of what causes the direction of international migration to drift in certain ways owing to factors such as Religiosity and Cultural Assimilation. The narrative on migration has graduated from the age long ‘push/pull’ debate to that of complex factors that may vary across each individual. We explore the longstanding factor of religiosity widely acknowledged in mentioned literature as a key variable in the assessment of migration, wherein the impact of religiosity in the form of a drift into the intent of migration has been analyzed. A more conventional factor cultural assimilation is used in a contemporary way to estimate how it plays a role in affecting the drift in direction. In particular what our research aims at achieving is to isolate the effect our key variables: Cultural Assimilation and Religiosity have on direction of migration, and to explore how they interplay as a composite unit- and how we may be able to justify the change in behavior displayed by these key variables. In order to establish a true sense of what drives individual choices we employ the method of survey research and use a questionnaire to conduct primary research. The questionnaire was divided into six sections covering subjects including household characteristics, perceptions and inclinations of the respondents relevant to our study. Religiosity was quantified using a proxy of Migration Network that utilized secondary data to estimate religious hubs in recipient countries. To estimate the relationship between Intent of Migration and its variants three competing econometric models namely: the Ordered Probit Model, the Ordered Logit Model and the Tobit Model were employed. For every model that included our key variables, a highly significant relationship with the intent of migration was estimated.

Keywords: international migration, drift in direction, cultural assimilation, religiosity, ordered probit model

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Authors: Jianhua Zhang, Weiping Chen, Guanjie Chen, Jason Flannick, Emma Fikse, Glenda Smerin, Yanqin Yang, Yulong Li, John A. Hanover, William F. Simonds

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Ethnic disparities in many diseases are well recognized and reflect the consequences of genetic, behavior, and environmental factors. However, direct scientific evidence connecting the ethnic genetic variations and the disease disparities has been elusive, which may have led to the ethnic inequalities in large scale genetic studies. Through the genome-wide analysis of data representing 185,934 subjects, including 14,955 from our own studies of the African America Diabetes Mellitus, we discovered sets of genetic variants either unique to or conserved in all ethnicities. We further developed a quantitative gene function-based high-risk variant index (hrVI) of 20,428 genes to establish profiles that strongly correlate with the subjects' self-identified ethnicities. With respect to the ability to detect human essential and pathogenic genes, the hrVI analysis method is both comparable with and complementary to the well-known genetic analysis methods, pLI and VIRlof. Application of the ethnicity-specific hrVI analysis to the type 2 diabetes mellitus (T2DM) national repository, containing 20,791 cases and 24,440 controls, identified 114 candidate T2DM-associated genes, 8.8-fold greater than that of ethnicity-blind analysis. All the genes identified are defined as either pathogenic or likely-pathogenic in ClinVar database, with 33.3% diabetes-associated and 54.4% obesity-associated genes. These results demonstrate the utility of hrVI analysis and provide the first genetic evidence by clustering patterns of how genetic variations among ethnicities may impede the discovery of diabetes and foreseeably other disease-associated genes.

Keywords: diabetes-associated genes, ethnic health disparities, high-risk variant index, hrVI, T2DM

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Authors: Abeer A. Aljohani

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COVID-19 virus spread has been one of the extreme pandemics across the globe. It is also referred to as coronavirus, which is a contagious disease that continuously mutates into numerous variants. Currently, the B.1.1.529 variant labeled as omicron is detected in South Africa. The huge spread of COVID-19 disease has affected several lives and has surged exceptional pressure on the healthcare systems worldwide. Also, everyday life and the global economy have been at stake. This research aims to predict COVID-19 disease in its initial stage to reduce the death count. Machine learning (ML) is nowadays used in almost every area. Numerous COVID-19 cases have produced a huge burden on the hospitals as well as health workers. To reduce this burden, this paper predicts COVID-19 disease is based on the symptoms and medical history of the patient. This research presents a unique architecture for COVID-19 detection using ML techniques integrated with feature dimensionality reduction. This paper uses a standard UCI dataset for predicting COVID-19 disease. This dataset comprises symptoms of 5434 patients. This paper also compares several supervised ML techniques to the presented architecture. The architecture has also utilized 10-fold cross validation process for generalization and the principal component analysis (PCA) technique for feature reduction. Standard parameters are used to evaluate the proposed architecture including F1-Score, precision, accuracy, recall, receiver operating characteristic (ROC), and area under curve (AUC). The results depict that decision tree, random forest, and neural networks outperform all other state-of-the-art ML techniques. This achieved result can help effectively in identifying COVID-19 infection cases.

Keywords: supervised machine learning, COVID-19 prediction, healthcare analytics, random forest, neural network

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Authors: Angelis P. Barlampas

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Theoretical background Disorders of fixation and rotation of the large intestine, result in the existence of its parts in ectopic anatomical positions. In case of symptomatology, the clinical picture is complicated by the possible symptomatology of the neighboring anatomical structures and a differential diagnostic problem arises. Target The purpose of this work is to demonstrate the difficulty of revealing the real cause of abdominal pain, in cases of anatomical variants and the decisive contribution of imaging and especially that of computed tomography. Methods A patient came to the emergency room, because of acute pain in the right hypochondrium. Clinical examination revealed tenderness in the gallbladder area and a positive Murphy's sign. An ultrasound exam depicted a normal gallbladder and the patient was referred for a CT scan. Results Flexible, unfixed ascending colon and cecum, located in the anatomical region of the right mesentery. Opacities of the surrounding peritoneal fat and a small linear concentration of fluid can be seen. There was an appendix of normal anteroposterior diameter with the presence of air in its lumen and without clear signs of inflammation. There was an impression of possible inflammatory swelling at the base of the appendix, (DD phenomenon of partial volume; e.t.c.). Linear opacities of the peritoneal fat in the region of the second loop of the duodenum. Multiple diverticula throughout the colon. Differential Diagnosis The differential diagnosis includes the following: Inflammation of the base of the appendix, diverticulitis of the cecum-ascending colon, a rare case of second duodenal loop ulcer, tuberculosis, terminal ileitis, pancreatitis, torsion of unfixed cecum-ascending colon, embolism or thrombosis of a vascular intestinal branch. Final Diagnosis There is an unfixed cecum-ascending colon, which is exhibiting diverticulitis.

Keywords: unfixed cecum-ascending colon, abdominal pain, malrotation, abdominal CT, congenital anomalies

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Authors: Agata Krawczyk-Ozog, Mateusz K. Holda, Mateusz Koziej, Danuta Sorysz, Zbigniew Siudak, Wieslawa Klimek-Piotrowska, Dariusz Dudek

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Introduction: Rapid development of the surgical and less-invasive percutaneous mitral valve repair procedures greatly increase the interest of the mitral valve anatomy. The aim of this study was to characterize morphological variability of the mitral valve leaflets and to provide the size of their particular parts. Materials and Methods: In the study, we included 200 autopsied human hearts from Caucasian individuals (25% females) with mean age 47.5 (±17.9) without any valvular diseases. The morphology of the mitral valve was evaluated. The intercommissural and aorto-mural diameters of the mitral annulus were measured. All leaflets and their scallops were identified. The base and the height of the posteromedial commissure (PM-C), anterolateral commissure (AL-C), anterior leaflet (AL) and posterior leaflet (PL) with their scallops were measured. Results: The intercommissural diameter was 28.0±4.8 mm, the aorto-mural diameter 19.7±4.8 mm, circumference of the mitral annulus 89.9±12.6 mm and the area of the mitral valve 485.4±171.4 mm2. Classical mitral valves (AL+AL-C+PL(P1,P2,P3)+PM-C) were found in 141 (70.5%) specimens. In classical type, the mean AL base and height were 30.8±4.9 mm and 20.6±4.2 mm, while mean PL base and height 45.1±8.2 mm 12.9±2.8 mm respectively. The mean ratio of the AL base to PL base was 0.7±0.2. Variations in PL were found in 55 (27.5%) and in AL in 5 (2.5%) hearts. The most common variations were: valve with one accessory scallop (AcS) between P3 and PM-C (7%); AcS between P1 and AL-C (4%); connections of P2 and P3 scallops (4%); connections of P1 and P2 scallops (3%); AcS in AL (2.5%). All AcS were smaller than the main PL scallops. The mean intertrigonal distance was 21.9±3.8 mm. Conclusions: In all cases, the mitral valve is built by two main leaflets with possible variants in secondary to leaflets scallops (29.5%). The variations are largely associated with PL and are mostly related to the presence of AcS. Anatomically the AL is not divided into scallops, and it occupies 34.5% of the mitral annulus circumference. Understanding the anatomy of the mitral valve leaflets helps to planning and performing mitral valve repair procedures.

Keywords: accessory scallop, commissure, connected scallops, human heart, mitral leaflets, mitral valve

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Authors: Setareh Yousife

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Introduction: Studies suggest that Extramarital Infidelity (EMI) variants, such as sexual and emotional infidelities are increasing in marriage relationships. To our knowledge, less is known about what therapies and mental-hygiene factors can prevent more effective this behavior and address it. Spiritual and cognitive-behavioural health have proven to reduce marital conflict, Increase marital satisfaction and commitment. Objective: This study aims to discuss the effectiveness of spiritual counseling combined with Cognitive-behavioural techniques in addressing Extramarital Infidelity. Method: Descriptive, analytical, and intervention articles indexed in SID, Noormags, Scopus, Iranmedex, Web of Science and PubMed databases, and Google Scholar were searched. We focused on Studies in which Women with extramarital relationships, including heterosexual married couples-only studies and spirituality/religion and CBT as coping techniques used as EMI therapy. Finally, the full text of all eligible articles was prepared and discussed in this review. Results: 25 publications were identified, and their textual analysis facilitated through four thematic approaches: The nature of EMI in Women, the meaning of spirituality in the context of mental health and human behavior as well as psychotherapy; Spirituality integrated into Cognitive-Behavioral approach, The role of Spirituality as a deterrent to EMI. Conclusions: The integration of the findings discussed herein suggests that the application of cognitive and behavioral skills in addressing these kinds of destructive family-based relationships is inevitable. As treatments based on religion/spirituality or cognition/behavior do not seem adequately effective in dealing with EMI, the combination of these approaches may lead to higher efficacy in fewer sessions and a shorter time.

Keywords: spirituality, religion, cognitive behavioral therapy, extramarital relation, infidelity

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Authors: Sofia Ait Bouazza

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We consider the problem of finding a minimum identifying code in a graph. This problem was initially introduced in 1998 and has been since fundamentally connected to a wide range of applications (fault diagnosis, location detection …). Suppose we have a building into which we need to place fire alarms. Suppose each alarm is designed so that it can detect any fire that starts either in the room in which it is located or in any room that shares a doorway with the room. We want to detect any fire that may occur or use the alarms which are sounding to not only to not only detect any fire but be able to tell exactly where the fire is located in the building. For reasons of cost, we want to use as few alarms as necessary. The first problem involves finding a minimum domination set of a graph. If the alarms are three state alarms capable of distinguishing between a fire in the same room as the alarm and a fire in an adjacent room, we are trying to find a minimum locating domination set. If the alarms are two state alarms that can only sound if there is a fire somewhere nearby, we are looking for a differentiating domination set of a graph. These three areas are the subject of much active research; we primarily focus on the third problem. An identifying code of a graph G is a dominating set C such that every vertex x of G is distinguished from other vertices by the set of vertices in C that are at distance at most r≥1 from x. When only vertices out of the code are asked to be identified, we get the related concept of a locating dominating set. The problem of finding an identifying code (resp a locating dominating code) of minimum size is a NP-hard problem, even when the input graph belongs to a number of specific graph classes. Therefore, we study this problem in some restricted classes of undirected graphs like split graph, line graph and path in a directed graph. Then we present some results on the identifying code by giving an exact value of upper total locating domination and a total 2-identifying code in directed and undirected graph. Moreover we determine exact values of locating dominating code and edge identifying code of thin headless spider and locating dominating code of complete suns.

Keywords: identiying codes, locating dominating set, split graphs, thin headless spider

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Authors: Anida Causevic-Ramosevac, Sabina Semiz

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The aim of this study was to investigate the association of four single nucleotide polymorphisms (SNPs) - rs673548, rs693 in ApoB gene, rs1800775 in CETP gene and rs4846914 in GALNT2 gene with parameters of type 2 diabetes (T2D) and diabetic dyslipidemia in the population of Bosnia and Herzegovina (BH). Materials and methods: Our study involved 352 patients with T2D and 156 healthy subjects. Biochemical and anthropometric parameters were measured in all participants. DNA was extracted from the peripheral blood for the purpose of genetic testing. Polymorphisms in ApoB (rs673548, rs693), CETP (rs1800775) and GALNT2 (rs4846914) genes were analyzed by using Sequenom IPLEX platform. Results: Our results demonstrated significant associations for rs180075 polymorphism in CETP gene with levels of fasting insulin (p = 0.020; p = 0.027; p = 0.044), triglycerides (p = 0.046) and ALT (p = 0.031) activity in control group. In group of diabetic patients, results showed a significant association of rs673548 in ApoB gene with levels of fasting insulin (p = 0.008), HOMA-IR (p = 0.013), VLDL-C (p = 0.037) and CRP (p = 0.029) and rs693 in ApoB gene with BMI (p = 0.025), systolic blood pressure (p = 0.027), fasting insulin (p = 0.037) and HOMA-IR (p = 0.023) levels. Significant associations were also observed for rs1800775 in CETP gene with triglyceride (p = 0.023) levels and rs4846914 in GALNT2 gene with HbA1C (p = 0.013) and triglyceride (p = 0.043) levels. Conclusion: In conclusion, this is the first study that examined the impact of variations of candidate genes on a wide range of metabolic parameters in BH population. Our results suggest an association of variations of ApoB, CETP and GALNT2 genes with specific markers of T2D and dyslipidemia. Further studies would be needed in order to confirm these genetic effects in other ethnic groups as well.

Keywords: ApoB, CETP, dyslipidemia, GALNT2, type 2 diabetes

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Authors: C. Brierley, H. El-Farahaty, A. Farhan

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The Leeds Parallel Corpus of Arabic-English Constitutions is a parallel corpus for the Arabic legal domain. Analysis of legal language via Corpus Linguistics techniques is an important development. In legal proceedings, a corpus-based approach to disambiguating meaning is set to replace the dictionary as an interpretative tool, and legal scholarship in the States is now attuned to the potential for Text Analytics over vast quantities of text-based legal material, following the business and medical industries. This trend is reflected in Europe: the interdisciplinary research group in Computer Assisted Legal Linguistics mines big data collections of legal and non-legal texts to analyse: legal interpretations; legal discourse; the comprehensibility of legal texts; conflict resolution; and linguistic human rights. This paper focuses on ‘dignity’ as an important aspect of the overarching concept of human rights in current constitutions across the Arab world. We have compiled a parallel, Arabic-English raw text corpus (169,861 Arabic words and 205,893 English words) from reputable websites such as the World Intellectual Property Organisation and CONSTITUTE, and uploaded and queried our corpus in Sketch Engine. Our most challenging task was sentence-level alignment of Arabic-English data. This entailed manual intervention to ensure correspondence on a one-to-many basis since Arabic sentences differ from English in length and punctuation. We have searched for morphological variants of ‘dignity’ (رامة ك, karāma) in the Arabic data and inspected their English translation equivalents. The term occurs most frequently in the Sudanese constitution (10 instances), and not at all in the constitution of Palestine. Its most frequent collocate, determined via the logDice statistic in Sketch Engine, is ‘human’ as in ‘human dignity’.

Keywords: Arabic constitution, corpus-based legal linguistics, human rights, parallel Arabic-English legal corpora

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Authors: J. C. Valenzuela-Tripodoro, P. Álvarez-Ruíz, M. A. Mateos-Camacho, M. Cera

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In 2004, it was introduced the concept of Roman domination in graphs. This concept was initially inspired and related to the defensive strategy of the Roman Empire. An undefended place is a city so that no legions are established on it, whereas a strong place is a city in which two legions are deployed. This situation may be modeled by labeling the vertices of a finite simple graph with labels {0, 1, 2}, satisfying the condition that any 0-vertex must be adjacent to, at least, a 2-vertex. Roman domination in graphs is a variant of classic domination. Clearly, the main aim is to obtain such labeling of the vertices of the graph with minimum cost, that is to say, having minimum weight (sum of all vertex labels). Formally, a function f: V (G) → {0, 1, 2} is a Roman dominating function (RDF) in the graph G = (V, E) if f(u) = 0 implies that f(v) = 2 for, at least, a vertex v which is adjacent to u. The weight of an RDF is the positive integer w(f)= ∑_(v∈V)▒〖f(v)〗. The Roman domination number, γ_R (G), is the minimum weight among all the Roman dominating functions? Obviously, the set of vertices with a positive label under an RDF f is a dominating set in the graph, and hence γ(G)≤γ_R (G). In this work, we start the study of a generalization of RDF in which we consider that any undefended place should be defended from a sudden attack by, at least, k legions. These legions can be deployed in the city or in any of its neighbours. A function f: V → {0, 1, . . . , k + 1} such that f(N[u]) ≥ k + |AN(u)| for all vertex u with f(u) < k, where AN(u) represents the set of active neighbours (i.e., with a positive label) of vertex u, is called a [k]-multiple Roman dominating functions and it is denoted by [k]-MRDF. The minimum weight of a [k]-MRDF in the graph G is the [k]-multiple Roman domination number ([k]-MRDN) of G, denoted by γ_[kR] (G). First, we prove that the [k]-multiple Roman domination decision problem is NP-complete even when restricted to bipartite and chordal graphs. A problem that had been resolved for other variants and wanted to be generalized. We know the difficulty of calculating the exact value of the [k]-MRD number, even for families of particular graphs. Here, we present several upper and lower bounds for the [k]-MRD number that permits us to estimate it with as much precision as possible. Finally, some graphs with the exact value of this parameter are characterized.

Keywords: multiple roman domination function, decision problem np-complete, bounds, exact values

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Authors: Umer Masood Chaudry, Hafiz Muhammad Rehan Tariq, Chung-soo Kim, Tea-sung Jun

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This study explored the influence of pre-stretching temperature on the microstructural characteristics and deformation behavior of AZ61 magnesium alloy and its implications on grain growth during subsequent annealing. AZ61 alloy was stretched to 5% plastic strain along rolling (RD) and transverse direction (TD) at room (RT) and cryogenic temperature (-150 oC, CT) followed by annealing at 320 oC for 1 h to investigate the twinning and dislocation evolution and its consequent effect on the flow stress, plastic strain and strain hardening rate. Compared to RT-stretched samples, significant improvement in yield stress, strain hardening rate and moderate reduction in elongation to failure were witnessed for CT-stretched samples along RD and TD. The subsequent EBSD analysis revealed the increased fraction of fine {10-12} twins and nucleation of multiple {10-12} twin variants caused by higher local stress concentration at the grain boundaries in CT-stretched samples as manifested by the kernel average misorientation. This higher twin fraction and twin-twin interaction imposed the strengthening by restricting the mean free path of dislocations, leading to higher flow stress and strain hardening rate. During annealing of the RT/CT-stretched samples, the residual strain energy and twin boundaries were decreased due to static recovery, leading to a coarse-grained twin-free microstructure. Strain induced boundary migration (SBIM) was found to be the predominant mechanism governing the grain growth during annealing via movement of high angle grain boundaries.

Keywords: magnesium, twinning, twinning variant selection, EBSD, cryogenic deformation

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Authors: Oluwaseun K. Oyebode, Josiah A. Adeyemo

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Hydrological modelling plays a crucial role in the planning and management of water resources, most especially in water stressed regions where the need to effectively manage the available water resources is of critical importance. However, due to the complex, nonlinear and dynamic behaviour of hydro-climatic interactions, achieving reliable modelling of water resource systems and accurate projection of hydrological parameters are extremely challenging. Although a significant number of modelling techniques (process-based and data-driven) have been developed and adopted in that regard, the field of hydrological modelling is still considered as one that has sluggishly progressed over the past decades. This is majorly as a result of the identification of some degree of uncertainty in the methodologies and results of techniques adopted. In recent times, evolutionary computation (EC) techniques have been developed and introduced in response to the search for efficient and reliable means of providing accurate solutions to hydrological related problems. This paper presents a comprehensive review of the underlying principles, methodological needs and applications of a promising evolutionary computation modelling technique – genetic programming (GP). It examines the specific characteristics of the technique which makes it suitable to solving hydrological modelling problems. It discusses the opportunities inherent in the application of GP in water related-studies such as rainfall estimation, rainfall-runoff modelling, streamflow forecasting, sediment transport modelling, water quality modelling and groundwater modelling among others. Furthermore, the means by which such opportunities could be harnessed in the near future are discussed. In all, a case for total embracement of GP and its variants in hydrological modelling studies is made so as to put in place strategies that would translate into achieving meaningful progress as it relates to modelling of water resource systems, and also positively influence decision-making by relevant stakeholders.

Keywords: computational modelling, evolutionary algorithms, genetic programming, hydrological modelling

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Authors: Bindu I. Somarajan, Viney Gupta, Gagandeep Kaur Walia, Jasbir Kaur, Sunil Kumar, Shikha Gupta, Abadh K. Chaurasia, Dinesh Gupa, Abhinav Kaushik, Aditi Mehta, Vipin Gupta, Arundhati Sharma

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Background: Juvenile onset primary open angle glaucoma (JOAG), affects individuals under the age of 40 years. Studies on a few families of JOAG, that led to the discovery of the Myocilin gene, reported the disease to have an autosomal dominant pattern of inheritance. However, sporadic forms of JOAG been seen to be more common in some populations. Most pathological homozygous mutations in the CYP1B1 gene associated with JOAG have been seen among sporadic cases. Given the higher prevalence of sporadic JOAG cases in our population, we aimed to look for common mutations E229K and R368H, the two most common variants in the CYP1B1 gene associated with glaucoma. Objective: To determine the frequency and evaluate genotype phenotype correlation of CYP1B1 E229K and R368H mutations in a cohort of 120 sporadic Juvenile open angle glaucoma patients.Methods: Unrelated JOAG patients whose first degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for E229K and R368H mutations. The phenotypic characteristics were compared between probands with and with out these mutations by SPSS v16. Results: Out of 120 JOAG patients included in the study, the E229K mutation was seen in 9 probands (7.5%) and R368H in 7 (5.8%). The average age of onset of the disease (p=0.3) and the highest untreated IOP (p=0.4) among those carrying mutations was not significantly different from those who did not have these mutations. The proportion of probands with angle dysgenesis among those with E229K and R368H mutations was 70% (11 out of 16) in comparison to 65% (67 out of 104) of those who did not harbour these mutations (p=0.56). Similarly the probands with moderate to high myopia among those with E229K and R368H mutations was 20% (3 out of 16) in comparison to 18% (18 out of 104) of those who did not harbour these mutations(p=0.59). Conclusion: The frequency of E229K and R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients. Moreover there is no clinical correlation between the presence of these mutations and disease severity

Keywords: CYP1B1, gene, IOP, JOAG, mutation

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Authors: Rindra Rantoson, Hichem Nouira, Nabil Anwer, Charyar Mehdi-Souzani

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Multiple measurements by means of various data acquisition systems are generally required to measure the shape of freeform workpieces for accuracy, reliability and holisticity. The obtained data are aligned and fused into a common coordinate system within a registration technique involving coarse and fine registrations. Standardized iterative methods have been established for fine registration such as Iterative Closest Points (ICP) and its variants. For coarse registration, no conventional method has been adopted yet despite a significant number of techniques which have been developed in the literature to supply an automatic rough matching between data sets. Two main issues are addressed in this paper: the coarse registration and the fine registration. For coarse registration, two novel automated methods based on the exploitation of discrete curvatures are presented: an enhanced Hough Transformation (HT) and an improved Ransac Transformation. The use of curvature features in both methods aims to reduce computational cost. For fine registration, a new variant of ICP method is proposed in order to reduce registration error using curvature parameters. A specific distance considering the curvature similarity has been combined with Euclidean distance to define the distance criterion used for correspondences searching. Additionally, the objective function has been improved by combining the point-to-point (P-P) minimization and the point-to-plane (P-Pl) minimization with automatic weights. These ones are determined from the preliminary calculated curvature features at each point of the workpiece surface. The algorithms are applied on simulated and real data performed by a computer tomography (CT) system. The obtained results reveal the benefit of the proposed novel curvature-based registration methods.

Keywords: discrete curvature, RANSAC transformation, hough transformation, coarse registration, ICP variant, point-to-point and point-to-plane minimization combination, computer tomography

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Authors: Weaam Aldeeban, Majd Aljamali, Lama A. Youssef

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Background & Objective: Warfarin is considered a problematic drug due to its narrow therapeutic window and wide inter-individual response variations, which are attributed to demographic, environmental, and genetic factors, particularly single nucleotide polymorphism (SNPs) in the genes encoding VKORC1 and CYP2C9 involved in warfarin's mechanism of action and metabolism, respectively. CYP2C9*2rs1799853 and CYP2C9*3rs1057910 alleles are linked to reduced enzyme activity, as carriers of either or both alleles are classified as moderate or slow metabolizers, and therefore exhibit higher sensitivity of warfarin compared with wild type (CYP2C9*1*1). Our study aimed to assess the frequency of *1, *2, and *3 alleles in the CYP2C9 gene in a cohort of Syrian patients receiving a maintenance dose of warfarin for different indications, the impact of genotypes on warfarin dosing, and the frequency of adverse effects (i.e., bleedings). Subjects & Methods: This retrospective cohort study encompassed 94 patients treated with warfarin. Patients’ genotypes were identified by sequencing the polymerase chain reaction (PCR) specific products of the gene encoding CYP2C9, and the effects on warfarin therapeutic outcomes were investigated. Results: Sequencing revealed that 43.6% of the study population has the *2 and/or *3 SNPs. The mean weekly maintenance dose of warfarin was 37.42 ± 15.5 mg for patients with the wild-type allele (CYP2C9*1*1), whereas patients with one or both variants (*2 and/or *3) demanded a significantly lower dose (28.59 ±11.58 mg) of warfarin, (P= 0.015). A higher percentage (40.7%) of patients with allele *2 and/or *3 experienced hemorrhagic accidents compared with only 17.9% of patients with the wild type *1*1, (P = 0.04). Conclusions: Our study proves an association between *2 and *3 genotypes and higher sensitivity to warfarin and a tendency to bleed, which necessitates lowering the dose. These findings emphasize the significance of CYP2C9 genotyping prior to commencing warfarin therapy in order to achieve optimal and faster dose control and to ensure effectiveness and safety.

Keywords: warfarin, CYP2C9, polymorphisms, Syrian, hemorrhage

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Authors: Tomasz Komornicki

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The primary aim of the presentation is to try to model border traffic and, at the same time to explain on which economic variables the intensity of border traffic depended in the long term. For this purpose, long series of traffic data on the Polish borders were used. Models were estimated for three variants of explanatory variables: a) for total arrivals and departures (total movement of Poles and foreigners), b) for arrivals and departures of Poles, and c) for arrivals and departures of foreigners. Each of the defined explanatory variables in the models appeared as the logarithm of the natural number of persons. Data from 1994-2017 were used for modeling (for internal Schengen borders for the years 1994-2007). Information on the number of people arriving in and leaving Poland was collected for a total of 303 border crossings. On the basis of the analyses carried out, it was found that one of the main factors determining border traffic is generally differences in the level of economic development (GDP) and the condition of the economy (level of unemployment) and the degree of border permeability. Also statistically significant for border traffic are differences in the prices of goods (fuels, tobacco, and alcohol products) and services (mainly basic ones, e.g., hairdressing services). Such a relationship exists mainly on the eastern border (border traffic determined largely by differences in the prices of goods) and on the border with Germany (in the first analysed period, border traffic was determined mainly by the prices of goods, later - after Poland's accession to the EU and the Schengen area - also by the prices of services). The models also confirmed differences in the set of factors shaping the volume and structure of border traffic on the Polish borders resulting from general geopolitical conditions, with the year 2007 being an important caesura, after which the classical population mobility factors became visible. The results obtained were additionally related to changes in traffic that occurred as a result of the CPOVID-19 pandemic and as a result of the Russian aggression against Ukraine.

Keywords: border, modal structure, transport, Ukraine

Procedia PDF Downloads 115

Authors: Mehrdad Sheikhvatan, Mohammad Ali Boroumand, Mehrdad Behmanesh, Shayan Ziaee

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Contradictory results have been obtained regarding the role of integrin, beta 3 (ITGB3) gene polymorphisms in occurrence of acute myocardial infarction (MI) in patients with coronary artery disease (CAD). Hence, we aimed to assess the association between 1565C/T polymorphism of ITGB3 gene and increased risk for acute MI in patients who suffered premature CAD in Iranian population. Our prospective study included 1000 patients (492 men and 508 women aged 21 to 55 years) referred to Tehran Heart center during a period of four years from 2008 to 2011 with the final diagnosis of premature CAD and classified into two groups with history of MI (n = 461) and without of MI (n = 539). The polymorphism variants were determined by PCR-RFLP technique by entering 10% of randomized samples and then genotyping of the polymorphism was also conducted by High Resolution Melting (HRM) method. Among study samples, 640 were followed with a median follow-up time 45.74 months for determining association of long-term major adverse cardiac events (MACE) and genotypes of polymorphisms. There was no significant difference in the frequency of 1565C/T polymorphism between the MI and non-MI groups. The frequency of wild genotype was 69.2% and 72.2%, the frequency of homozygous genotype was 21.3% and 18.4%, and the frequency of mutant genotype was 9.5% and 9.5%, respectively (p=0.505). Results were also similar when adjusted for covariates in a multivariate logistic regression model. No significant difference was also found in total-MACE free survival rate between the patients with different genotypes of 1565C/T polymorphism in both MI and non-MI group. The carriage of the 1565C/T polymorphism of ITGB3 gene seems unlikely to be a significant risk factor for the development of MI in Iranian patients with premature CAD. The presence of this ITGB3 gene polymorphism may not also predict long-term cardiac events.

Keywords: coronary artery disease, myocardial infarction, gene, integrin, beta 3, polymorphism

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Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar

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Obesity is a non-communicable disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely the fat mass and obesity associated (FTO) gene SNP rs9939609 and Vitamin D Receptor (VDR) gene SNP rs1544410, with obesity in the UAE population. Methods: This is a case-control study in which 414 individuals were enrolled during their routine visit to endocrinology clinics in Abu Dhabi, United Arab Emirates between the period of June 2012 and December 2013. Several biochemical tests and clinical assessments along with a lifestyle questionnaire for each participant were completed at the clinic. Genomic DNA was extracted from saliva samples of 201 obese, 114 overweight and 99 normal subjects. Genotyping for the variants was performed using TaqMan assay. Results: The mean Body Mass Index (BMI) ± SD for the obese, overweight, and normal subjects was 35.76 ± 4.54, 27.53 ± 1.45 and 22.69 ± 1.84 kg/m2, respectively. Increasing BMI values were associated with an increase in values for systolic blood pressure, diastolic blood pressure, HbA1c, and triglycerides. The SNP rs9939609 in the FTO gene was found to be significantly associated with the BMI (p=0.028), with the minor allele A having a clear additive effect on BMI values. No significant association was detected between BMI and rs1544410 of the VDR gene. Conclusions: Our study findings indicate that the minor allele A of the rs9939609 has a significant association with increasing BMI values. In addition, our findings support the fact that increasing BMI is associated with increasing risks of other comorbidities such as higher blood pressure, poorer glycemic control and higher triglycerides.

Keywords: body mass index, FTO gene, obesity, rs9939609, United Arab Emirates

Procedia PDF Downloads 222

Authors: Axel Mancebo, Ana M. Bada, Angel Casacó, Bárbara González, Avelina León, María E. Arteaga, Consuelo González, Belinda Sánchez, Adriana Carr, Nuris Ledón, Arianna Iglesias

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Despite the many preventive and therapeutic modalities aimed at curing cancer, it remains as a serious world health problem. Promising recent developments suggest that cancer immunotherapy may be the next great hope for cancer treatment. EGFRs are receptor tyrosine kinases and it is considered an important therapeutic target related with tumor progression, and several types of molecular therapies, including monoclonal antibodies, small molecules, and vaccines, have been developed to target the HER family of receptors. On the other hand, gangliosides are membrane glycosphingolipids that contain two variants of sialic acid, the N-acetylated (NeuAc) and the N-glycolylated (NeuGc) variant. The high expression of this antigen-specific molecule has been associated with malignant tumor progression and immunosuppressive mechanisms, so ganglioside could be considered as the target for cancer immunotherapy. We have been working for several years in the safety evaluation of cancer vaccines targeting these two systems, the EGF receptor and ganglioside. We presented in this work results of repeated dose toxicity studies performed in Sprague Dawley rats and Cynomolgus monkeys, including clinical observations, body weight and rectal temperature measuring, clinical pathology analysis, gross necropsy and histological examination in rodent studies, and immunological evaluation. Immunizations were capable of inducing mainly inflammatory effects at the injection site, with findings largely attributable to the adjuvants used and probably enhanced by the immunological properties of the antigens. In general, these vaccines were shown to be well tolerated, and these studies in relevant species allow treating cancer patients with tumors during long periods with relative weight safety margin.

Keywords: cancer vaccines, safety, toxicology, rats, non human primates

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Authors: Prabesh Karki, Shyam Thapa Chettri, Bajarang Prasad Sah, Manoj Bhattarai, Sudeep Mishra

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Introduction: Frontal sinus is frequently described as the most difficult sinus to access surgically due to its proximity to the cribriform plate, orbit, and anterior ethmoid artery. Frontal sinus surgery requires a detailed understanding of the cellular structure and FSDP unique to each patient, making high-resolution CT scans an indispensable tool to assess the difficulty of planned sinus surgery. International Frontal Sinus Anatomy Classification (IFAC) was developed to provide a more precise nomenclature for cells in the frontal recess, classifying cells based on their anatomic origin. Objectives: To assess the proportion of frontal cell variants defined by IFAC, variation with respect to age and gender. Methods: 54 cases were enrolled after a detailed clinical history, thorough general and physical examinations, and CT a report ordered in a film. Assessment and tabulation of the presence of frontal cells according to the IFAC analyzed. The prevalence of each cell type was calculated, and data were entered in MS Excel and analyzed using Statistical Package for the Social Sciences (SPSS). Descriptive statistics and frequencies were defined for categorical and numerical variables. Frequency, percentage, the mean and standard deviation were calculated. Result: Among 54 patients, 30 (55.6%) were male and 24 (44.4%) were female. The patient enrolled ranged from 18 to 78 years. Majority33.3% (n=18) were in age group of >50 years.According to IFAC, Agger nasi cells (92.6%) were most common, whereas supraorbital ethmoidal cells were least common 16 (29.6%). Prevalence of other frontoethmoidal cells was SAC- 57.4%, SAFC- 38.9%, SBC- 74.1%, SBFC- 33.3%, FSC- 38.9% of 54 cases. Conclusion: IFAC is an international consensus document that describes an anatomically precise nomenclature for classifying frontoethmoidal cells' anatomy. This study has defined the prevalence, symmetry and reliability of frontoethmoidal cells as established by the IFAC system as in other parts of the world.

Keywords: frontal sinus, frontoethmoidal cells, international frontal sinus anatomy classification

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Authors: Afsaneh Mohammadnejad, Marianne Nygaard, Jan Baumbach, Shuxia Li, Weilong Li, Jesper Lund, Jacob v. B. Hjelmborg, Lene Christensen, Qihua Tan

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Cognitive impairment in the elderly is a key issue affecting the quality of life. Despite a strong genetic background in cognition, only a limited number of single nucleotide polymorphisms (SNPs) have been found. These explain a small proportion of the genetic component of cognitive function, thus leaving a large proportion unaccounted for. We hypothesize that one reason for this missing heritability is the misspecified modeling in data analysis concerning phenotype distribution as well as the relationship between SNP dosage and the phenotype of interest. In an attempt to overcome these issues, we introduced a model-free method based on the generalized correlation coefficient (GCC) in a genome-wide association study (GWAS) of cognitive function in twin samples and compared its performance with two popular linear regression models. The GCC-based GWAS identified two genome-wide significant (P-value < 5e-8) SNPs; rs2904650 near ZDHHC2 on chromosome 8 and rs111256489 near CD6 on chromosome 11. The kinship model also detected two genome-wide significant SNPs, rs112169253 on chromosome 4 and rs17417920 on chromosome 7, whereas no genome-wide significant SNPs were found by the linear mixed model (LME). Compared to the linear models, more meaningful biological pathways like GABA receptor activation, ion channel transport, neuroactive ligand-receptor interaction, and the renin-angiotensin system were found to be enriched by SNPs from GCC. The GCC model outperformed the linear regression models by identifying more genome-wide significant genetic variants and more meaningful biological pathways related to cognitive function. Moreover, GCC-based GWAS was robust in handling genetically related twin samples, which is an important feature in handling genetic confounding in association studies.

Keywords: cognition, generalized correlation coefficient, GWAS, twins

Procedia PDF Downloads 127

Authors: L. Kiefer, C. Richter, G. Reinhart

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The uprising complexity in production systems due to an increasing amount of variants up to customer innovated products leads to requirements that hierarchical control systems are not able to fulfil. Therefore, factory planners can install autonomous manufacturing systems. The fundamental requirement for an autonomous control is the identification of objects within production systems. In this approach an attribute-based identification is focused for avoiding dose-dependent identification costs. Instead of using an identification mark (ID) like a radio frequency identification (RFID)-Tag, an object type is directly identified by its attributes. To facilitate that it’s recommended to include the identification and the corresponding sensors within handling processes, which connect all manufacturing processes and therefore ensure a high identification rate and reduce blind spots. The presented methodology reduces the individual effort to integrate identification processes in handling systems. First, suitable object attributes and sensor systems for object identification in a production environment are defined. By categorising these sensor systems as well as handling systems, it is possible to match them universal within a compatibility matrix. Based on that compatibility further requirements like identification time are analysed, which decide whether the combination of handling and sensor system is well suited for parallel handling and identification within an autonomous control. By analysing a list of more than thousand possible attributes, first investigations have shown, that five main characteristics (weight, form, colour, amount, and position of subattributes as drillings) are sufficient for an integrable identification. This knowledge limits the variety of identification systems and leads to a manageable complexity within the selection process. Besides the procedure, several tools, as an example a sensor pool are presented. These tools include the generated specific expert knowledge and simplify the selection. The primary tool is a pool of preconfigured identification processes depending on the chosen combination of sensor and handling device. By following the defined procedure and using the created tools, even laypeople out of other scientific fields can choose an appropriate combination of handling devices and sensors which enable parallel handling and identification.

Keywords: agent systems, autonomous control, handling systems, identification

Procedia PDF Downloads 177

Authors: Nicole Ramlachan, Samuel Mark West

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Lung cancer is the leading cause of cancer-associated deaths in North America, with the vast majority being non-small cell lung cancer (NSCLC), with a five-year survival rate of only 24%. Non-invasive discovery of biomarkers associated with early-diagnosis of NSCLC can enable precision oncology efforts using liquid biopsy-based multiomics profiling of plasma. Although tissue biopsies are currently the gold standard for tumor profiling, this method presents many limitations since these are invasive, risky, and sometimes hard to obtain as well as only giving a limited tumor profile. Blood-based tests provides a less-invasive, more robust approach to interrogate both tumor- and non-tumor-derived signals. We intend to examine 30 stage III-IV NSCLC patients pre-surgery and collect plasma samples.Cell-free DNA (cfDNA) will be extracted from plasma, and next-generation sequencing (NGS) performed. Through the analysis of tumor-specific alterations, including single nucleotide variants (SNVs), insertions, deletions, copy number variations (CNVs), and methylation alterations, we intend to identify tumor-derived DNA—ctDNA among the total pool of cfDNA. This would generate data to be used as an accurate form of cancer genotyping for diagnostic purposes. Using liquid biopsies offer opportunities to improve the surveillance of cancer patients during treatment and would supplement current diagnosis and tumor profiling strategies previously not readily available in Trinidad and Tobago. It would be useful and advantageous to use this in diagnosis and tumour profiling as well as to monitor cancer patients, providing early information regarding disease evolution and treatment efficacy, and reorient treatment strategies in, timethereby improving clinical oncology outcomes.

Keywords: genomics, multiomics, clinical genetics, genotyping, oncology, diagnostics

Procedia PDF Downloads 162

Authors: Sunidhi Syal, Rasangi Tennakoon, Patrick O'Donoghue

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Polyglutamine (polyQ) diseases are a group of diseases related to neurodegeneration caused by repeats of the amino acid glutamine (Q) in the DNA, which translates into an elongated polyQ tract in the protein. The pathological explanation is that the polyQ tract forms cytotoxic aggregates in the neurons, leading to their degeneration. There are no cures or preventative efforts established for these diseases as of today, although the symptoms of these diseases can be relieved. This study specifically focuses on Huntington's disease, which is a type of polyQ disease in which aggregation is caused by the extended cytosine, adenine, guanine (CUG) codon repeats in the huntingtin (HTT) gene, which encodes for the huntingtin protein. Using this principle, we attempted to create six models, which included mutating wildtype tRNA alanine variant tRNA-AGC-8-1 to have glutamine anticodons CUG and UUG so serine is incorporated at glutamine sites in poly Q tracts. In the process, we were successful in obtaining tAla-8-1 CUG mutant clones in the HTTexon1 plasmids with a polyQ tract of 23Q (non-pathogenic model) and 74Q (disease model). These plasmids were transfected into mouse neuroblastoma cells to characterize protein synthesis and aggregation in normal and mistranslating cells and to investigate the effects of glutamines replaced with alanines on the disease phenotype. Notably, we observed no noteworthy differences in mean fluorescence between the CUG mutants for 23Q or 74Q; however, the Triton X-100 assay revealed a significant reduction in insoluble 74Q aggregates. We were unable to create a tAla-8-1 UUG mutant clone, and determining the difference in the effects of the two glutamine anticodons may enrich our understanding of the disease phenotype. In conclusion, by generating structural disruption with the amino acid alanine, it may be possible to find ways to minimize the toxicity of Huntington's disease caused by these polyQ aggregates. Further research is needed to advance knowledge in this field by identifying the cellular and biochemical impact of specific tRNA variants found naturally in human genomes.

Keywords: Huntington's disease, polyQ, tRNA, anticodon, clone, overlap PCR

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Authors: Timothy Kayode Samson, Adedoyin Isola Lawal

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The past five years have shown a sharp increase in public interest in the crypto market, with its market capitalization growing from $100 billion in June 2017 to $2158.42 billion on April 5, 2022. Despite the outrageous nature of the volatility of cryptocurrencies, the use of skewed error innovation distributions in modelling the volatility behaviour of these digital currencies has not been given much research attention. Hence, this study models the volatility of 5 largest cryptocurrencies by market capitalization (Bitcoin, Ethereum, Tether, Binance coin, and USD Coin) using four variants of GARCH models (GJR-GARCH, sGARCH, EGARCH, and APARCH) estimated using three skewed error innovation distributions (skewed normal, skewed student- t and skewed generalized error innovation distributions). Daily closing prices of these currencies were obtained from Yahoo Finance website. Finding reveals that the Binance coin reported higher mean returns compared to other digital currencies, while the skewness indicates that the Binance coin, Tether, and USD coin increased more than they decreased in values within the period of study. For both Bitcoin and Ethereum, negative skewness was obtained, meaning that within the period of study, the returns of these currencies decreased more than they increased in value. Returns from these cryptocurrencies were found to be stationary but not normality distributed with evidence of the ARCH effect. The skewness parameters in all best forecasting models were all significant (p<.05), justifying of use of skewed error innovation distributions with a fatter tail than normal, Student-t, and generalized error innovation distributions. For Binance coin, EGARCH-sstd outperformed other volatility models, while for Bitcoin, Ethereum, Tether, and USD coin, the best forecasting models were EGARCH-sstd, APARCH-sstd, EGARCH-sged, and GJR-GARCH-sstd, respectively. This suggests the superiority of skewed Student t- distribution and skewed generalized error distribution over the skewed normal distribution.

Keywords: skewed generalized error distribution, skewed normal distribution, skewed student t- distribution, APARCH, EGARCH, sGARCH, GJR-GARCH

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Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

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Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

Procedia PDF Downloads 197