Search results for: functional polymorphism

Authors: Reza Talebi

Abstract:

Wheat (Triticum aestivum) is one of the most important food staples in Iran. Understanding genetic variability among the landrace wheat germplasm is important for breeding. Landraces endemic to Iran are a genetic resource that is distinct from other wheat germplasm. In this study, 60 Iranian landrace wheat accessions were characterized AFLP and ISSR markers. Twelve AFLP primer pairs detected 128 polymorphic bands among the sixty genotypes. The mean polymorphism rate based on AFLP data was 31%; however, a wide polymorphism range among primer pairs was observed (22–40%). Polymorphic information content (PIC value) calculated to assess the informativeness of each marker ranged from 0.28 to 0.4, with a mean of 0.37. According to AFLP molecular data, cluster analysis grouped the genotypes in five distinct clusters. .ISSR markers generated 68 bands (average of 6 bands per primer), which 31 were polymorphic (45%) across the 60 wheat genotypes. Polymorphism information content (PIC) value for ISSR markers was calculated in the range of 0.14 to 0.48 with an average of 0.33. Based on data achieved by ISSR-PCR, cluster analysis grouped the genotypes in three distinct clusters. Both AFLP and ISSR markers able to showed that high level of genetic diversity in Iranian landrace wheat accessions has maintained a relatively constant level of genetic diversity during last years.

Keywords: wheat, genetic diversity, AFLP, ISSR

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Authors: Vanessa Vasconcelos, Mariza A. S. Bigonha

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In order to facilitate both processes, this paper presents HaskellFL, a tool that uses fault localization techniques to locate a logical error in Haskell code. The Haskell subset used in this work is sufficiently expressive for those studying functional programming to get immediate help debugging their code and to answer questions about key concepts associated with the functional paradigm. HaskellFL was tested against functional programming assignments submitted by students enrolled at the functional programming class at the Federal University of Minas Gerais and against exercises from the Exercism Haskell track that are publicly available on GitHub. Furthermore, the EXAM score was chosen to evaluate the tool’s effectiveness, and results showed that HaskellFL reduced the effort needed to locate an error for all tested scenarios. Results also showed that the Ochiai method was more effective than Tarantula.

Keywords: debug, fault localization, functional programming, Haskell

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Authors: Laurent Thiry, Michel Hassenforder

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This paper presents a general approach to implement efficient queries’ interpreters in a functional programming language. Indeed, most of the standard tools actually available use an imperative and/or object-oriented language for the implementation (e.g. Java for Jena-Fuseki) but other paradigms are possible with, maybe, better performances. To proceed, the paper first explains how to model data structures and queries in a functional point of view. Then, it proposes a general methodology to get performances (i.e. number of computation steps to answer a query) then it explains how to integrate some optimization techniques (short-cut fusion and, more important, data transformations). It then compares the functional server proposed to a standard tool (Fuseki) demonstrating that the first one can be twice to ten times faster to answer queries.

Keywords: data transformation, functional programming, information server, optimization

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Authors: Ghaleb Bin Huraib

Abstract:

Atopic dermatitis (AD), also known as atopic eczema, is a chronic inflammatory skin disease characterized by severe itching and recurrent, relapsing eczema-like skin lesions, affecting up to 20% of children and 10% of adults in industrialized countries. AD is a complex multifactorial disease, and its exact etiology and pathogenesis have not been fully elucidated. The aim of this study was to investigate the impact of gene polymorphisms of T helper cell subtype Th1 and Th2 cytokines, interferon-gamma (IFN-γ), interleukin-6 (IL-6) and transforming growth factor (TGF)-β1on AD susceptibility in a Saudi cohort. One hundred four unrelated patients with AD and 195 healthy controls were genotyped for IFN-γ (874A/T), IL-6 (174G/C) and TGF-β1 (509C/T) polymorphisms using ARMS-PCR and PCR-RFLP technique. The frequency of genotypes AA and AT of IFN-γ (874A/T) differed significantly among patients and controls (P 0.001). The genotype AT was increased while genotype AA was decreased in AD patients as compared to controls. AD patients also had a higher frequency of T-containing genotypes (AT+TT) than controls (P = 0.001). The frequencies of alleles T and A were statistically different in patients and controls (P = 0.04). The frequencies of genotype GG and allele G of IL-6 (174G/C) were significantly higher, while genotype GC and allele C were lower in AD patients than in controls. There was no significant difference in the frequencies of alleles and genotypes of TGF-β1 (509C/T) polymorphism between the patient and control groups. These results showed that susceptibility to AD is influenced by the presence or absence of genotypes of IFN-γ (874A/T) and IL-6 (174G/C) polymorphisms. It is concluded T-allele and T-containing genotypes (AT+TT) of IFN-γ (874A/T) and G-allele and GG genotype ofIL-6 (174G/C) polymorphisms are susceptible to AD in Saudis. On the other hand, the TGF-β1 (509C/T) polymorphism may not be associated with AD risk in our population; however, further studies with large sample sizes are required to confirm these results.

Keywords: atopic dermatitis, Polymorphism, Interferon, IL-6

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Authors: Sara Mohammad Atef Sabaika

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Background: The development of factor VIII (FVIII) inhibitor and hemophilic arthropathy in patients with hemophilia A (PWHA) are a great challenge for hemophilia care. Both genetic and environmental factors led to complications in PWHA. The development of inhibitory antibodies is usually induced by the immune response. Tumor necrosis factor α (TNF-α), one of the cytokines, might contribute to its polymorphism. Aim: Study the association between tumor necrosis alpha level and genotypes in pediatric patients with hemophilia A and its relation to inhibitor development and joint status. Methods: A cross-sectional study was conducted among a sufficient number of PWHA attending the Pediatric Hematology and Oncology Unit, Pediatric department in Menoufia University hospital. The clinical parameters, FVIII, FVIII inhibitor, and serum TNF-α level were assessed. The genotyping of −380G > A TNF-α gene polymorphism was performed using real time polymerase chain reaction. Results: Among the 50 PWHA, 28 (56%) were identified as severe PWHA. The FVIII inhibitor was identified in 6/28 (21.5%) of severe PWHA. There was a significant correlation between serum TNF-α level and the development of inhibitor (p = 0:043). There was significant correlation between polymorphisms of −380G > A TNF-α gene and hemophilic arthropathy development (p = 0:645). Conclusion: The prevalence of FVIII inhibitor in severe PWHA in Menoufia was 21.5%. The frequency of replacement therapy is a risk factor for inhibitor development. Serum TNF-α level and its gene polymorphism might be used to predict inhibitor development and joint status in pediatric patients with hemophilia A.

Keywords: hemophilic arthropathy, TNF alpha., patients witb hemophilia A PWHA, inhibitor

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Authors: Nermin Sökmen

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An effort estimation model is needed for software-intensive projects that consist of hardware, embedded software or some combination of the two, as well as high level software solutions. This paper first focuses on functional decomposition techniques to measure functional complexity of a computer system and investigates its impact on system development effort. Later, it examines effects of technical difficulty and design team capability factors in order to construct the best effort estimation model. With using traditional regression analysis technique, the study develops a system development effort estimation model which takes functional complexity, technical difficulty and design team capability factors as input parameters. Finally, the assumptions of the model are tested.

Keywords: functional complexity, functional decomposition, development effort, technical difficulty, design team capability, regression analysis

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Authors: Nesrine Benarous, Hassiba Bougueria, Nabila Moussa Slimane, Aouatef Cherouana

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Crystal polymorphism is important for the synthesis of more potent and bioactive pharmaceutical compounds, including their different properties, such as packing arrangement and conformation. In fact, polymorphism plays a vital role in drug development. Different parameters affect the crystallization and give their degree of freedom. Severalproperties affected polymorphism, like kinetics, thermodynamics, spectroscopy, and mechanical property. Various techniques are used for characterizing polymorphs, are crystallography, morphology, phase transitions, molecular motion, and chemical environment. In this work, crystal structures of two polymorphs (I and II) of the Schiff base (SB) title compound were prepared by condensation reaction. The crystal structures of both polymorphs were determined by single X-ray analysis. The two polymorphs crystallize in two different space groups: P21/c for I and Pbca for II. The dihedral angles between the two phenyl rings are 4.81º for I and 82.27º for II. Both crystal structures are built on the basis of moderate and weak hydrogen bonds, 𝜋-stacking, and halogen⋯halogeninteractions. On the other hand, Hirshfeld surface (HS) analysis indicates that the most important contributions to the crystal packing for the two polymorphs are from Cl⋯H/H⋯Cl, H⋯H, and N⋯H/H⋯N contacts. These are followed by C⋯H/H⋯C for compound I and C⋯C and by C⋯H/H⋯C contacts for compound II. Afterwards, the in vitro antibacterial activity revealed that the SB have been found effective against G- bacteria Klebsiella pneumonia andG+ bacteria Staphylococcus aureuswith MIC value of14.37μg/mL. Moreover, the SBexhibited moderate toxicity against Brine Shrimp with LC50 value of 44.19μg/mL.

Keywords: polymorph, crystal structure, hirshfeld surface analysis, in vitro antibacterial activity, toxicity

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Authors: Rajkumar N. Ingle

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In this paper, the existence of a solution of nonlinear functional random differential equations of the first order is proved under caratheodory condition. The study of the functional random differential equation has got importance in the random analysis of the dynamical systems of universal phenomena. Objectives: Nonlinear functional random differential equation is useful to the scientists, engineers, and mathematicians, who are engaged in N.F.R.D.E. analyzing a universal random phenomenon, govern by nonlinear random initial value problems of D.E. Applications of this in the theory of diffusion or heat conduction. Methodology: Using the concepts of probability theory, functional analysis, generally the existence theorems for the nonlinear F.R.D.E. are prove by using some tools such as fixed point theorem. The significance of the study: Our contribution will be the generalization of some well-known results in the theory of Nonlinear F.R.D.E.s. Further, it seems that our study will be useful to scientist, engineers, economists and mathematicians in their endeavors to analyses the nonlinear random problems of the universe in a better way.

Keywords: Random Fixed Point Theorem, functional random differential equation, N.F.R.D.E., universal random phenomenon

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Authors: Saeedeh Salimi, Farzaneh Farajian- Mashhadi, Ehsan Tabatabaei, Mahnaz Shahrakipoor, Minoo Yaghmaei, Mojgan Mokhtari

Abstract:

Purpose: Estrogen receptor-α (ERα) plays an essential role in the adaptation of increased uterine blood flow during gestation. Therefore ERα gene could be a possible candidate for preeclampsia(PE) susceptibility. In the current study, we aimed to investigate the association of the ERα gene polymorphisms and PE in an Iranian population. Methods: One hundred ninety-two pregnant women with PE and 186 normotensive women were genotyped for ERα gene (PvuII and XbaI) polymorphisms by PCR-RFLP method. Results: The frequency of alleles and genotypes of ERα PvuII and XbaI polymorphisms were not different between PE and normotensive control women. However, higher frequency of GG genotype was observed in women with severe PE compared to mild PE (OR, 1.8 [95% CI, 1.1 to 3]; P = 0.02) and in severe PE compared to normotensive women [OR= 1.8(1.1-3), P=0.02] after adjusting for age, ethnicity and primiparity. Conclusions: The GG genotype of ERα XbaI polymorphism could be a genetic risk factor for PE predisposition.

Keywords: estrogen receptor-α, polymorphism, gene, preeclampsia

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Authors: Panisa Harnpathananun

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This paper is 'Practical Experience Analysis' which aims to analyze critical obstacles hampering the growth of the functional milk industry and suggest recommendations to overcome those obstacles. Using the Sectoral Innovation System (SIS) along value chain analysis, it is found that restriction in regulation of milk disinfection process, difficulty of dairy entrepreneurs for health claim approval of functional food and beverage and lack of intermediary between entrepreneurs and certified units for certification of functional foods and milk are major causes that needed to be resolved. Consequently, policy recommendations are proposed to tackle the problems occurring throughout the value chain. For the upstream, a collaborative platform using the quadruple helix model is proposed in a pattern of effective dairy cooperatives. For the midstream, regulation issues of new process, extended shelf life (ESL) milk, or prolonged milk are necessary, which can be extended the global market opportunity. For the downstream, mechanism of intermediary between entrepreneurs and certified units can be assisted in certified process of functional milk, especially a process of 'health claim' approval.

Keywords: Thailand, functional milk, supply chain, quadruple helix, intermediary, functional food

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Authors: Abdulaziz Alkathiry

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Concussion is a common brain injury that affect physical and cognitive performance. While several studies indicated that adolescents are more likely to develop concussion, in the last decade concussion has been mainly explored in adults. Migraine has been identified as a common symptom reported after concussion and was tied with worse prognoses. Hence, we aimed to investigate the effect of migraine on functional performance and self-reported symptoms in children with concussion. This cross-sectional study involved 35 symptomatic children aged 9 – 17 years recruited within 1 year from their concussion injury at a tertiary balance center. Participants’ symptoms and functional performance were assessed using the post-concussion symptoms scale (PCSS) and the functional gait assessment (FGA) respectively. Concussed children with migraine showed significantly worse symptoms including fatigue, sleeping impairment, difficulty concentrating, and visual problems (P < 0.05). Functional performance didn’t show differences between concussed children with and without migraine. Although concussed children with and without migraine didn’t show any differences on functional performance, worse cognitive symptoms were found in concussed children with migraine. A customized treatment approach is indicated in the presence of migraine for the management of children with concussion. Keywords: Concussion; Migraine; Balance; Post-Concussion Symptoms Scale; Functional Gait Assessment

Keywords: concussion, migraine, post-concussion symptoms scale, functional gait assessment, balance

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Authors: Eisha Vienna M. Fernandez, Cristan Q. Cabanilla, Hiyasmin Lim, John Donnie A. Ramos

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Allergy is a multifactorial disease affecting a significant proportion of the population. It is developed through the interaction of allergens and the presence of certain polymorphisms in various susceptibility genes. In this study, the correlation of the 105A/C single nucleotide polymorphism (SNP) of the IL-18 gene and house dust mite-specific IgE among Filipino allergic and non-allergic population was investigated. Atopic status was defined by serum total IgE concentration of ≥100 IU/mL, while house dust mite allergy was defined by specific IgE value ≥ +1SD of IgE of nonatopic participants. Two hundred twenty match-paired Filipino cases and controls aged 6-60 were the subjects of this investigation. The level of total IgE and Specific IgE were measured using Enzyme-Linked Immunosorbent Assay (ELISA) while Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP) analysis was used in the SNP detection. Sensitization profiles of the allergic patients revealed that 97.3% were sensitized to Blomia tropicalis, 40.0% to Dermatophagoides farinae, and 29.1% to Dermatophagoides pteronyssinus. Multiple sensitization to HDMs was also observed among the 47.27% of the atopic participants. Any of the allergy classes of the atopic triad were exhibited by the cases (allergic asthma: 48.18%; allergic rhinitis: 62.73%; atopic dermatitis: 19.09%), and two or all of these atopic states are concurrently occurring in 26.36% of the cases. A greater proportion of the atopic participants with allergic asthma and allergic rhinitis were sensitized to D. farinae, and D. pteronyssinus, while more of those with atopic dermatitis were sensitized to D. pteronyssinus than D. farinae. Results show that there is overrepresentation of the allele “A” of the 105A/C IL-18 gene SNP in both cases and control groups of the population. The genotype that predominate the population is the heterozygous “AC”, followed by the homozygous wild “AA”, and the homozygous variant “CC” being the least. The study confirmed a positive association between serum specific IgE against B. tropicalis and D. pteronyssinus and the allele “C” (Bt P=0.021, Dp P=0.027) and “AC” (Bt P=0.003, Dp P=0.026) genotype. Findings also revealed that the genotypes “AA” (OR:1.217; 95% CI: 0.701-2.113) and “CC” (OR, 3.5; 95% CI: 0.727-16.849) increase the risk of developing allergy. This indicates that the 105A/C IL-18 gene SNP is a candidate genetic marker for HDM allergy among Filipino patients.

Keywords: house dust mite allergy, interleukin-18 (IL-18), single nucleotide polymorphism,

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Authors: O. H. Gebril, N. A. Meguid

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Background: Iron had been a focus of interest recently as a main exaggerating factor for oxidative stresses in the central nervous system and a link to various neurological disorders is suspected. Many studies with various techniques showed evidence of disturbed iron-related proteins in the cell in human and animal models of neurodegenerative disorders. Also, linkage to significant pathological changes had been evidenced e.g. apoptosis and cell signaling. On the other hand, the role of iron in neurodevelopmental disorders is still unclear. With increasing prevalence of autism worldwide, some changes in iron parameters and its stores were documented in many studies. This study includes Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) and ferroportin gene (SLC40A1) Q248H polymorphism in autism and control children. Materials and Methods: Whole genome DNA was extracted; p.H63D and p.C282Y genotyping was studied using specific sequence amplification followed by restriction enzyme digestion on a sample of autism patients (25 cases) and twenty controls. Results: The p.H63D is seen more than the C282Y among both autism and control samples, with no significant association of p.H63D or p.C282Y polymorphism and autism was revealed. Also, no association with Q248H polymorphism was evidenced. Conclusion: The study results do not prove the role of cellular iron genes polymorphisms as risk factors for neurodevelopmental disorders, and in turn highlights the specificity of cellular iron related pathways in neurodegeneration. These results demand further gene expression studies to elucidate the main pathophysiological pathways that are disturbed in autism and other neurodevelopmental disorders.

Keywords: iron, neurodevelopmental, oxidative stress, haemohromatosis, ferroportin, genes

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Authors: Marinela Istrate, Ionel Muntele, Alexandru Bănică

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The authors propose the identification, analysis and prognosis of the quantitative and qualitative evolution of the elderly population in the functional urban areas. The present paper takes into account the analysis of some representative indicators (the weight of the elderly population, ageing index, dynamic index of economic ageing of productive population etc.) and the elaboration of an integrated indicator that would help differentiate the population ageing forms in the 48 functional urban areas that were defined based on demographic and social-economic criteria for all large and medium cities in Romania.

Keywords: ageing, demographic transition, functional urban areas, spatial resilience

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Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

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The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Yu-Mei Hsueh, Cheng-Shiuan Tsai, Chao-Yuan Huang

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Prostate Cancer (PC) is a malignant tumor originated in prostate and is a second common male’s cancer in the world. Incidence of PC in Asia countries, have still been rising over the past few decades. As an antioxidant, selenium can slow down prostate cancer tumor progression, but the association between plasma selenium levels and risk of aggressive prostate cancer may be modified by different genotype of selenoprotein. The aim of this study is to determine the relationship between plasma selenium, polymorphism of selenoprotein, urinaty total arsenic, and prostate cancer. Two hundred ninety five pathologically-confirmed cases of PC and 295 cancer-free controls were individually matched to case subjects by age (± 5 years) were recruited from Department of Urology of National Taiwan University Hospital, Taipei Municipal Wan Fang Hospital and Taipei Medical University Hospital. Personal interview and biospeciment of urine and blood collection from participants were conducted by well-trained interviewers after participants’ informed consent was obtained. Plasma selenium was measured by an inductively coupled plasma mass. Urinary arsenic concentration was detected using high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphism of SEPP1rs3797310 and SEP15 rs5859 were determined using polymerase chain reaction-restriction fragment length polymorphism method. The higher plasma selenium was the lower OR of PC with a dose-response relationship. Prostate cancer patients with high plasma selenium had low tumor stage and grade. Participants carried SEPP1rs3797310 CT+TT genotype compared to those with CC genotype had a lower OR of PC in crude model; then this relationship was disappeared after confounder was adjusted. Prostate cancer patients with high urinary total arsenic concentration had high tumor stage and grade. Urinary total arsenic concentration was significantly positively related with plasma selenium and prostate specific antigen concentration. Participants with lower plasma selenium concentration and higher urinary total arsenic concentration compared to those with higher plasma selenium concentration and lower urinary total arsenic concentration had a higher OR of PC with a dose-response relationship.

Keywords: prostate cancer, plasma selenium concentration, urinary arsenic concentration, prostate specific antigen

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Authors: Z. Chekini, P. Afsharian, F. Ramezanali, A. A. Akhlaghi, R. Aflatoonian

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Macrophage migration inhibitory factor (MIF) is a key pro-inflammatory cytokine that involves in pathophysiological events of endometriosis. We aimed to evaluate the association between mRNA expression levels and polymorphisms of MIF in endometriosis. Seventy endometriosis patients and 70 volunteer fertile women were recruited. RFLP was applied to determine -173G/C polymorphism. ORF polymorphisms and -794(CATT)5-8 were detected by sequencing. Q-PCR was used for expression study of 14 ectopic tissues of patients. Homozygote of CATT5 was observed only in controls. The CATT5/G haplotype related to controls (p=0.094, OR=0.61). Expression level of MIF with -794(CATT)6,7/-173GC was significantly more than the other haplotypes (p=0.00). We identified four SNPs including: +254rs2096525 (p=0.843), +626rs33958703 (p=0.029), +656rs2070766 (p=0.703) and +509rs182012324 (p=1.00). In conclusion, increased repeat of CATT and presence of C allele in promoter of MIF were significantly associated with mRNA level in patients. It seems that +509rs182012324 and +626rs33958703 SNPs were significantly correlated with susceptibility to endometriosis.

Keywords: endometriosis, haplotype, macrophage migration inhibitory factor, polymorphism

Procedia PDF Downloads 436

Authors: Debajyoti Mukherjee, Arathy B. S., Arpita Sahu, Saranga P. Pogula

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A functional model to mimic the functional correctness of a neural network compute accelerator IP is very crucial for design validation. Neural network workloads are based on a Brain Floating Point (BF-16) data type. The major challenge we were facing was the incompatibility of GCC compilers to the BF-16 datatype, which we addressed with a native BF-16 generator integrated into our functional model. Moreover, working with big GEMM (General Matrix Multiplication) or SpMM (Sparse Matrix Multiplication) Work Loads (Dense or Sparse) and debugging the failures related to data integrity is highly painstaking. In this paper, we are addressing the quality challenge of such a complex neural network accelerator design by proposing a functional model-based scoreboard or software model using SystemC. The proposed functional model executes the assembly code based on the ISA of the processor IP, decodes all instructions, and executes as expected to be done by the DUT. The said model would give a lot of visibility and debug capability in the DUT, bringing up micro-steps of execution.

Keywords: ISA, neural network, Brain Float-16, DUT

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Authors: Jae-Woo Kim, Kyung-Jung Lee, Hyun-Sik Ahn

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This paper presents a design methodology for the motor driven automotive subsystems with the consideration of the functional safety. There are many such modules in vehicles which use DC/AC motors for an electronic throttle control system, a motor driven power steering, a motor driven seat belt systems and for HVAC systems. The functional safety for the automotive electrical and electronic parts are standardized as ISO 26262, but the development procedure is very complex to be followed. We focus on the functional safe motor controller design process and show the designed motor controller hardware satisfies the required safety integrity level by using metric calculations with the safety mechanism.

Keywords: AUTOSAR, MDPS, Simulink, software component

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Authors: Najeeb Ullah Khan

Abstract:

Background: The receptor activator NF-κβ ligand (RANKL) and Osteoprotegerin (OPG) polymorphisms have been associated with the progression of breast cancer to bone metastasis. Here, we aimed to investigate the association of RANKL and OPG gene polymorphism with breast to bone metastasis in the Pashtun population, Pakistan. Methods: Genomic DNA was obtained from all the study subjects (106 breast cancer, 58 breast to bone metastasis, and 51 healthy controls). RANKL (rs9533156) and OPG (rs2073618, rs3102735) polymorphisms were genotyped using Tetra-ARMS PCR. Results: Our results indicated that the frequencies of OPG (rs3102735) risk allele and genotypes carrying risk allele in breast cancer vs healthy control (C- p=0.005; CC- p=0.0208; TC- p=0.0181), bone metastasis vs healthy control (C- p=0.0211; CC- p=0.0153; TC- p=0.0775), and breast cancer vs breast to bone metastasis (C- p=0.0001; CC- p=0.0001; TC- p=0.001) were found significantly associated with disease risk. However, there was no significant association observed for OPG (rs2073618) risk allele and risk allele containing genotypes in all study groups. Similarly, RANKL (rs9533156) risk alleles and corresponding genotypes in breast cancer vs healthy control (C- p=0.0001; CC- p=0.0001; TC- p=0.0084), bone metastasis vs healthy control (C- p=0.0001; CC- p=0.0001; TC- p=0.5593), and breast cancer vs breast to bone metastasis (C- p=0.0185; CC- p=0.6077; TC- p=0.1436) showed significant association except for the risk allele carrying genotypes in breast cancer to bone metastasis (TC, p=0.1436; CC, p=0.6077). Conclusion: OPG (rs3102735) and RANKL (rs9533156) showed significant association with breast to bone metastasis, while OPG (rs2073618) didn’t show a significant association with breast to bone metastasis in Pashtun population of Pakistan. However, more investigation will be required to disseminate the results while gene sequencing or whole-exome sequencing.

Keywords: breast cancer, bone metastasis, OPG, RANKL, polymorphism

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Authors: Ghaleb Bin Huraib, Fahad Al Harthi, Misbahul Arfin, Abdulrahman Al-Asmari

Abstract:

Atopic dermatitis (AD), also known as atopic eczema, is a chronic inflammatory skin disease characterized by severe itching and recurrent relapsing eczema-like skin lesions, affecting up to 20% of children and 10% of adults in industrialized countries. AD is a complex multifactorial disease, and its exact etiology and pathogenesis have not been fully elucidated. The aim of this study was to investigate the impact of gene polymorphisms of T helper cell subtype Th1 and Th2 cytokines, interferon-gamma (IFN-γ), interleukin-6 (IL-6) and transforming growth factor (TGF)-β1on AD susceptibility in a Saudi cohort. One hundred four unrelated patients with AD and 195 healthy controls were genotyped for IFN-γ (874A/T), IL-6 (174G/C) and TGF-β1 (509C/T) polymorphisms using ARMS-PCR and PCR-RFLP technique. The frequency of genotypes AA and AT of IFN-γ (874A/T) differed significantly among patients and controls (P 0.001). The genotype AT was increased while genotype AA was decreased in AD patients as compared to controls. AD patients also had higher frequency of T containing genotypes (AT+TT) than controls (P = 0.001). The frequencies of allele T and A were statistically different in patients and controls (P = 0.04). The frequencies of genotype GG and allele G of IL-6 (174G/C) were significantly higher while genotype GC and allele C were lower in AD patients than controls. There was no significant difference in the frequencies of alleles and genotypes of TGF-β1 (509C/T) polymorphism between patient and control groups. These results showed that susceptibility to AD is influenced by presence or absence of genotypes of IFN-γ (874A/T) and IL-6 (174G/C) polymorphisms. It is concluded that T-allele and T-containing genotypes (AT+TT) of IFN-γ (874A/T) and G-allele and GG genotype ofIL-6 (174G/C) polymorphisms are susceptible to AD in Saudis.On the other hand, the TGF-β1 (509C/T) polymorphism may not be associated with AD risk in Saudi population however further studies with large sample size are required to confirm these findings.

Keywords: atopic dermatitis, interferon-γ, interleukin-6, transforming growth factor-β1, polymorphism

Procedia PDF Downloads 82

Authors: Debajyoti Mukherjee, Arathy B. S., Arpita Sahu, Saranga P. Pogula

Abstract:

A Functional Model to mimic the functional correctness of a Neural Network Compute Accelerator IP is very crucial for design validation. Neural network workloads are based on a Brain Floating Point (BF-16) data type. The major challenge we were facing was the incompatibility of gcc compilers to BF-16 datatype, which we addressed with a native BF-16 generator integrated to our functional model. Moreover, working with big GEMM (General Matrix Multiplication) or SpMM (Sparse Matrix Multiplication) Work Loads (Dense or Sparse) and debugging the failures related to data integrity is highly painstaking. In this paper, we are addressing the quality challenge of such a complex Neural Network Accelerator design by proposing a Functional Model-based scoreboard or Software model using SystemC. The proposed Functional Model executes the assembly code based on the ISA of the processor IP, decodes all instructions, and executes as expected to be done by the DUT. The said model would give a lot of visibility and debug capability in the DUT bringing up micro-steps of execution.

Keywords: ISA (instruction set architecture), NN (neural network), TLM (transaction-level modeling), GEMM (general matrix multiplication)

Procedia PDF Downloads 50

Authors: Manar Y. Abd El-Aziz, Alyaa E. Morgham, Amira A. El-Fallal, Heba Tolla E. Abo El Naga

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Sport wears almost preferred with knitted fabrics, specially interlock construction. But, there is a need for higher comfortability and functional properties for fabrics to be more fitted to this application. This study compared cotton and polyester microfibers and blended them to improve the functional activity of interlock in sport wear by mercerized and non-mercerized. also, fabric dyeing and dyeability are affected by mercerization. Many functional properties, such as UV protection as well as antimicrobial activity. The changes in different mechanical as well as physical properties were investigated. The washing fastness properties of the dyed fabrics are also given. The changes in moisture regain, loss in weight, and burst and burst elongation for all mercerized fabrics have been studied.

Keywords: interlock, mercirization, dyeability, function properties, moisture management

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Authors: Yun-Ching Tu, Yu-Chun Chih

Abstract:

People with aphasia (PWA) may have communicative difficulties in their daily lives, but research on functional communication in aphasia is still limited in Taiwan. The aim of the study was to investigate the impact of aphasia-related factors on functional communication assessment. This study adopted a convenience sampling method. Thirty aphasic participants participated in the study. During the test, the examiner would ask questions that are encountered in daily life and record the participant‘s responses. Some questions would provide pictures to simulate situations in daily life. The results showed that the non-fluent aphasia group performed significantly worse than the fluent aphasia group. In addition, patients with severe aphasia performed significantly lower scores than patients with moderate aphasia and mild aphasia. However, group differences in the chronic stage and acute stage were not significant. In sum, since communication in daily life is diverse and language is still needed in the communication process, patients with aphasia who have better language ability may have relatively better functional communication. In contrast, the more severely impaired the language ability of a patient with aphasia is, the more functional communication will be affected, resulting in poor communication performance in daily life.

Keywords: adult, aphasia, assessment, functional communication

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Authors: Savaş Karpuz, Sami Küçükşen

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The aim of this study is to investigate the effectiveness of neurological rehabilitation in patients with traumatic brain injury. Participants were 45 consecutive adults with traumatic brain injury who were received the neurologic rehabilitation. Sociodemographic characteristics of the patients, the cause of the injury, the duration of the coma and posttraumatic amnesia, the length of stay in the other inpatient clinics before rehabilitation, the time between injury and admission to the rehabilitation clinic, and the length of stay in the rehabilitation clinic were recorded. The differences in functional status between admission and discharge were determined with Disability Rating Scale (DRS), Functional Independence Measure (FIM), and Functional Ambulation Scale (FAS) and levels of cognitive functioning determined with Ranchos Los Amigos Scale (RLAS). According to admission time, there was a significant improvement identified in functional status of patients who had been given the intensive in-hospital cognitive rehabilitation program. At discharge time, the statistically significant differences were obtained in DRS, FIM, FAS and RLAS scores according to admission time. Better improvement in functional status was detected in patients with lower scores in DRS, and higher scores FIM and RLAS scores at the entry time. The neurologic rehabilitation significantly affects the recovery of functional status after traumatic brain injury.

Keywords: traumatic brain injury, rehabilitation, functional status, neurological

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Authors: Adesola Odole, Nse Odunaiya, Samuel Adewale

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Chronic Mechanical Low Back Pain (CMLBP) is prevalent in the aging population; some studies have documented the association among pain intensity, functional disability and physical activity in the general population but very few studies in the elderly. This study was designed to investigate the association among pain intensity, functional disability and physical activity of elderly individuals with CMLBP in the University College Hospital (UCH), Ibadan, Nigeria and also to determine the difference in physical activity, pain intensity and functional disability between males and females. A total of 96 participants diagnosed with CMLBP participated in this cross-sectional survey. They were conveniently sampled from selected units in the UCH, Ibadan, Nigeria. Data on sex, marital status, occupation and duration of onset of pain of participants were obtained from the participants. The Physical Activity Scale for the Elderly, Visual Analogue Scale and Oswestry Disability Questionnaire were used to measure the physical activity, pain intensity and functional disability of the participants respectively. Data was analysed using Spearman correlation, independent t-test; and α was set at 0.05. Participants (25 males, 71 females) were aged 69.64±7.43 years. The majority (76.0%) of the participants were married, and over half (55.2%) were retirees. Participants’ mean pain intensity score was 5.21±2.03 and mean duration of onset of low back pain was 63.63 ± 90.01 months. The majority (67.6%) of the participants reported severe to crippled functional disability. Their mean functional disability was 46.91 ± 13.99. Participants’ mean physical activity score was 97.47 ± 82.55. There was significant association between physical activity and pain intensity (r = -0.21, p = 0.04). There was significant association between physical activity and functional disability (r = -0.47, p = 0.00). Male (87.26 ± 79.94) and female (101.07 ± 83.71) participants did not differ significantly in physical activity (t = 0.00, p = 0.48). In addition, male (5.48 ± 2.06) and female (5.11 ± 2.02) participants’ pain intensity were comparable (t = 0.26, p = 0.44). There was also no significant difference in functional disability (t = 0.05, p = 0.07) between male (42.56 ±13.85) and female (48.45 ± 13.81) participants. It can be concluded from this study that majority of the elderly individuals with chronic mechanical low back pain had a severe to crippled functional disability. Those who reported increased physical activity had reduced pain intensity and functional disability. Male and female elderly individuals with chronic mechanical low back pain are comparable in their pain intensity, functional disability, and physical activity. Elderly individuals with CMLBP should be educated on the importance of participating in physical activity which could reduce their pain symptoms and improve functional disability.

Keywords: elderly, functional disability, mechanical low back pain, pain intensity, physical activity

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Authors: Lídia E. O. Cruz, Adriano P. C. Calvo, Renato J. Soares, Regiane A. Carvalho

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Individuals with non-specific chronic low back pain may present altered movement patterns during functional activities. However, muscle behavior before and after performing a functional task with different load conditions is not yet fully understood. The aim of this study is to analyze lumbar muscle activity before and after performing the functional task of picking up and placing an object on the ground (with and without load) in individuals with nonspecific chronic low back pain. 20 subjects with nonspecific chronic low back pain and 20 healthy subjects participated in this study. A surface electromyography was performed in the ilio-costal, longissimus and multifidus muscles to evaluate lumbar muscle activity before and after performing the functional task of picking up and placing an object on the ground, with and without load. The symptomatic participants had greater lumbar muscle activation compared to the asymptomatic group, more evident in performing the task without load, with statistically significant difference (p = 0,033) between groups for the right multifidus muscle. This study showed that individuals with nonspecific chronic low back pain have higher muscle activation before and after performing a functional task compared to healthy participants.

Keywords: chronic low back pain, functional task, lumbar muscles, muscle activity

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Authors: Sekena H. Abd El-Aziem, Heba A. M. Abd El-Kader, Sally S. Alam, Othman E. Othman

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Growth hormone (GH) is an anabolic hormone synthesized and secreted by the somatotroph cells of the anterior lobe of the pituitary gland in a circadian and pulsatile manner, the pattern of which plays an important role in postnatal longitudinal growth and development, tissue growth, lactation, reproduction as well as protein, lipid and carbohydrate metabolism. The aim of this study was to detect the genetic polymorphism of GH gene in five camel breeds reared in Egypt; Sudany, Somali, Mowaled, Maghrabi and Falahy, using PCR-RFLP technique. Also this work aimed to identify the single nucleotide polymorphism between different genotypes detected in these camel breeds. The amplified fragment of camel GH at 613-bp was digested with the restriction enzyme MspI and the result revealed the presence of three different genotypes; CC, CT and TT in tested breeds and significant differences were recorded in the genotype frequencies between these camel breeds. The result showed that the Maghrabi breed that is classified as a dual purpose camels had higher frequency for allele C (0.75) than those in the other tested four breeds. The sequence analysis declared the presence of a SNP (C→T) at position 264 in the amplified fragment which is responsible for the destruction of the restriction site C^CGG and consequently the appearance of two different alleles C and T. The nucleotide sequences of camel GH alleles T and C were submitted to nucleotide sequences database NCBI/Bankit/GenBank and have accession numbers: KP143517 and KP143518, respectively. It is concluded that only one SNP C→T was detected in GH gene among the five tested camel breeds reared in Egypt and this nucleotide substitution can be used as a marker for the genetic biodiversity between camel breeds reared in Egypt. Also, due to the possible association between allele C and higher growth rate, we can used it in MAS for camels and enter the camels possess this allele in breeding program as a way for enhancement of growth trait in camel breeds reared in Egypt.

Keywords: camel breeds in Egypt, GH, PCR-RFLP, SNPs

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Authors: Roya Bakhtiar, Alireza Abdolmohammadi, Hadi Hajarian, Zahra Nikousefat, Davood, Kalantar-Neyestanaki

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The objective of the present study was to determine the polymorphism in the leptin (332G>A) and its association with biometric traits in Sanjabi sheep. For this purpose, blood samples from 96 rams were taken, and tail length, width tail, circumference tail, body length, body width, and height were simultaneously recorded. PCR was performed using specific primer to amplify 463 bp fragment including exon 3 of leptin gene, and PCR products were digested by Cail restriction enzymes. The 332G>A (at 332th nucleotide of exon 3 leptin gene) that caused an amino acid change from Arg to Gln was detected by Cail (CAGNNNCTG) endonuclease, as the endonuclease cannot cut this region if G nucleotide is located in this position. Three genotypes including GG (463), GA (463, 360and 103 bp) and GG (360 bp and 103 bp) were identified after digestion by enzyme. The estimated frequencies of three genotypes including GG, GA, and AA for 332G>A locus were 0.68, 0.29 and 0.03 and those were 0.18 and 0.82 for A and G alleles, respectively. In the current study, chi-square test indicated that 332G>A positions did not deviate from the Hardy–Weinberg (HW) equilibrium. The most important reason to show HW equation was that samples used in this study belong to three large local herds with a traditional breeding system having random mating and without selection. Shannon index amount was calculated which represent an average genetic variation in Sanjabi rams. Also, heterozygosity estimated by Nei index indicated that genetic diversity of mutation in the leptin gene is moderate. Leptin gene polymorphism in the 332G>A had significant effect on body length (P<0.05) trait, and individuals with GA genotype had significantly the higher body length compared to other individuals. Although animals with GA genotype had higher body width, this difference was not statistically significant (P>0.05). This non-synonymous SNP resulted in different amino acid changes at codon positions111(R/Q). As leptin activity is localized, at least in part, in domains between amino acid residues 106-1406, it is speculated that the detected SNP at position 332 may affect the activity of leptin and may lead to different biological functions. Based to our results, due to significant effect of leptin gene polymorphism on body size traits, this gene may be used a candidate gene for improving these traits.

Keywords: body size, Leptin gene, PCR-RFLP, Sanjabi sheep

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Authors: V. Karuppaiah, J. C. Padaria, C. Srivastava

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The tobacco caterpillar, Spodoptera litura Fab (Lepidoptera: Noctuidae) is a polyphagous pest various field and horticulture crops in India. Pest had virtually developed resistance to all commonly used insecticides. Enhanced detoxification is the prime mechanism that is dictated by detoxification different enzymes and carboxylesterase is one of the major enzyme responsible development of resistance. In India, insecticide resistance studies on S. litura are mainly deployed on detoxification enzymes activity and investigation at gene level alteration i.e. at nucleotide level is very merger. In the present study, we collected the S. litura larvae from three different cauliflower growing belt viz., IARI, New Delhi (Delhi), Palari, Sonepat (Haryana) and Varanasi (Uttar Pradesh) to study the role of carboxylesterase activity and its gene level variation The CarE activity was measured using UV-VIS spectrophotometer with 3rd instar larvae of S. litura. The elevated activity of CarE was observed in Sonepat strain (28.09 ± 0.09 µmol/min/mg of protein) followed by Delhi (26.72 ± 0.04 µmol/min/mg of protein) and Varanasi strain (10.00 ± 0.44 µmol/min/mg of protein) of S. litura. The genomic DNA was isolated from 3rd instar larvae and CarE gene was amplified using a primer sequence, F:5’tccagagttccttgtcaggcac3’; R:5’ctgcatcaagcatgtctc3. CarE gene, about 500bp was partially amplified, sequenced and submitted to NCBI (Accession No. KF835886, KF835887 and KF835888). The sequence data revealed polymorphism at nucleotide level in all the three strains and gene found to have 88 to 97% similarity with previous available nucleotide sequences of S. litura, S. littoralis and S. exiqua. The polymorphism at the nucleotide level could be a reason for differential activity of carboxylesterase enzymes among the strains. However, investigation at gene expression level would be useful to analyze the overproduction of carboxylesterase enzyme.

Keywords: carboxylesterase, CarE gene, nucleotide polymorphism, insecticide resistance, spodoptera litura

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