Search results for: functional mutations
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3133

Search results for: functional mutations

3043 Effect of Rehabilitation on Outcomes for Persons with Traumatic Brain Injury: Results from a Single Center

Authors: Savaş Karpuz, Sami Küçükşen

Abstract:

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

Procedia PDF Downloads 230
3042 Correlation between Resistance to Non-Specific Inhibitor and Mammalian Pathogenicity of an Egg Adapted H9N2 Virus

Authors: Chung-Young Lee, Se-Hee Ahn, Jun-Gu Choi, Youn-Jeong Lee, Hyuk-Joon Kwon, Jae-Hong Kim

Abstract:

A/chicken/Korea/01310/2001 (H9N2) (01310) was passaged through embryonated chicken eggs (ECEs) by 20 times (01310-E20), and it has been used for an inactivated oil emulsion vaccine in Korea. After sequential passages, 01310-E20 showed higher pathogenicity in ECEs and acquired multiple mutations including a potential N-glycosylation at position 133 (H3 numbering) in HA and 18aa-deletion in NA stalk. To evaluate the effect of these mutations on the mammalian pathogenicity and resistance to non-specific inhibitors, we generated four PR8-derived recombinant viruses with different combinations of HA and NA from 01310-E2 and 01310-E20 (rH2N2, rH2N20, rH20N2, and rH20N20). According to our results, recombinant viruses containing 01310 E20 HA showed higher growth property in MDCK cells and higher virulence on mice than those containing 01310 E2 HA regardless of NA. The hemagglutination activity of rH20N20 was less inhibited by egg white and mouse lung extract than that of other recombinant viruses. Thus, the increased pathogenicity of 01310-E20 may be related to both higher replication efficiency and resistance to non-specific inhibitors in mice.

Keywords: avian influenza virus, egg adaptation, H9N2, N-glycosylation, stalk deletion of neuraminidase

Procedia PDF Downloads 288
3041 Pain Intensity, Functional Disability and Physical Activity among Elderly Individuals with Chronic Mechanical Low Back Pain

Authors: Adesola Odole, Nse Odunaiya, Samuel Adewale

Abstract:

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

Procedia PDF Downloads 320
3040 Pain and Lumbar Muscle Activation before and after Functional Task in Nonspecific Chronic Low Back Pain

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

Abstract:

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

Procedia PDF Downloads 197
3039 Effect of Sprouting Period of Proximate Composition, Functional Properties and Mineral Content on Malted Sorghum Flour

Authors: Adebola Ajayi, Olakunle M. Makanjuola

Abstract:

Effect of sprouting period on proximate, functional and mineral properties of malted sorghum flour was evaluated. The study was carried out to determine the proximate, functional and mineral properties of sprouting period on malted sorghum flour produced. The malted sorghum flour was obtained by sorting, weighing, washing, steeping, draining, germination, drying, dry milling, sieving. Malted sorghum flour was evaluated for proximate composition, functional properties and mineral contents. Moisture, protein, fat content, crude fiber, ash contents and carbohydrate of 24 and 48 hours, were in the range of 10.50-11.0, 11.17-11.17, 1.50-4.00, 2.50-1.50, 1.50-1.54 and 73.15-70.79% respectively. Bulk density ranged between 0.64 and 0.59g/ml, water and oil absorption capacities ranged between 139.3 and 150.0 and 217.3 and 222.7g/g respectively. Calcium, Magnesium, Zinc, Iron and Manganese were also range of 12.5, 59.3-60.0, 3.22-3.25, 3.80-3.90 and 3.22-3.25 mg/100g respectively. The results indicate that the germination of red sorghum resulted in the enhancement of the nutritional quality and its functional properties.

Keywords: sprouting, sorghum, malted sorghum flour, cabinet dryer

Procedia PDF Downloads 209
3038 A Computational Study of N–H…O Hydrogen Bonding to Investigate Cooperative Effects

Authors: Setareh Shekarsaraei, Marjan Moridi, Nasser L. Hadipour

Abstract:

In this study, nuclear magnetic resonance spectroscopy and nuclear quadrupole resonance spectroscopy parameters of 14N (Nitrogen in imidazole ring) in N–H…O hydrogen bonding for Histidine hydrochloride monohydrate were calculated via density functional theory. We considered a five-molecule model system of Histidine hydrochloride monohydrate. Also, we examined the trends of environmental effect on hydrogen bonds as well as cooperativity. The functional used in this research is M06-2X which is a good functional and the obtained results have shown good agreement with experimental data. This functional was applied to calculate the NMR and NQR parameters. Some correlations among NBO parameters, NMR, and NQR parameters have been studied which have shown the existence of strong correlations among them. Furthermore, the geometry optimization has been performed using M062X/6-31++G(d,p) method. In addition, in order to study cooperativity and changes in structural parameters, along with increase in cluster size, natural bond orbitals have been employed.

Keywords: hydrogen bonding, density functional theory (DFT), natural bond orbitals (NBO), cooperativity effect

Procedia PDF Downloads 456
3037 The Roles, Strategic Coordination, and Alignment of CTOs: A Systematic Literature Review

Authors: Shailendra Natraj, Kristin Paetzold, B. R. Katzy

Abstract:

The significant role of technology in strategic business decisions has created the need for executives who understand technology and recognize profitable applications to products, services and processes. The role of CTO’s is very complex within technology-based firms, which stretches from the technology aspects to the strategic goal and vision of the firm. Often the roles of CTOs scales from as functional leaders, strategic leaders or supera- functional leaders. In most of the companies the roles are unclear and fuzzy. We in our research are trying to explore each of the orientation and link between leadership types (functional, strategic and super functional) of CTOs, responsibilities, credibility and strategic and conceptual responsibilities. Approach: We conducted a comprehensive literature review with the available databank sources. Results: From the conducted literature review we could identify that most of the research work conducted so far were mainly distributed between roles and responsibilities of CTOs. The available sources pointed were limited to roles of CTOs as functional leaders. Contribution: In our findings based on the literature review, we could identify that apart from the conducted research what so far has not been focused yet are (a) The leadership types (mainly) strategic and super-functional leaders) of CTOs, (b) the responsibilities and credibility of CTOs and (c) the strategic and conceptual responsibilities of CTOs.

Keywords: CTO, chief technology officer, strategy, technology leaders

Procedia PDF Downloads 513
3036 A Preliminary Report of HBV Full Genome Sequencing Derived from Iranian Intravenous Drug Users

Authors: Maryam Vaezjalali, Koroush Rahimian, Maryam Asli, Tahmineh Kandelouei, Foad Davoodbeglou, Amir H. Kashi

Abstract:

Objectives: The present study was conducted to assess the HBV molecular profiles including genotypes, subgenotypes, subtypes & mutations in hepatitis B genes. Materials/Patients and Methods: This study was conducted on 229 intravenous drug users who referred to three Drop- in-Centers and a hospital in Tehran. HBV DNA was extracted from HBsAg positive serum samples and amplified by Nested PCR. HBV genotype, subgenotypes, subtype and genes mutation were determined by direct sequencing. Phylogenetic tree was constructed using neighbor- joining (NJ) method. Statistical analyses were carried out by SPSS 20. Results: HBV DNA was found in 3 HBsAg positive cases. Phylogenetic tree of derived HBV DNAs showed the existence of genotype D (subgenotype D1, subtype ayw2). Also immune escape mutations were determined in S gene. Conclusion: There were a few variations and genotypes and subtypes among infected intravenous drug users. This study showed the predominance of genotype D among intravenous drug users. Our study concurs with other reports from Iran, that all showing currently only genotype D is the only detectable genotype in Iran.

Keywords: drug users, genotype, HBV, phylogenetic tree

Procedia PDF Downloads 326
3035 Gender Effects in EEG-Based Functional Brain Networks

Authors: Mahdi Jalili

Abstract:

Functional connectivity in the human brain can be represented as a network using electroencephalography (EEG) signals. Network representation of EEG time series can be an efficient vehicle to understand the underlying mechanisms of brain function. Brain functional networks – whose nodes are brain regions and edges correspond to functional links between them – are characterized by neurobiologically meaningful graph theory metrics. This study investigates the degree to which graph theory metrics are sex dependent. To this end, EEGs from 24 healthy female subjects and 21 healthy male subjects were recorded in eyes-closed resting state conditions. The connectivity matrices were extracted using correlation analysis and were further binarized to obtain binary functional networks. Global and local efficiency measures – as graph theory metrics– were computed for the extracted networks. We found that male brains have a significantly greater global efficiency (i.e., global communicability of the network) across all frequency bands for a wide range of cost values in both hemispheres. Furthermore, for a range of cost values, female brains showed significantly greater right-hemispheric local efficiency (i.e., local connectivity) than male brains.

Keywords: EEG, brain, functional networks, network science, graph theory

Procedia PDF Downloads 444
3034 An Investigation on the Removal of Synthetic Dyes from Aqueous Solution by a Functional Polymer

Authors: Ali Kara, Asim Olgun, Sevgi Sozugecer, Sahin Ozel, Kubra Nur Yildiz, P. Sevinç, Abdurrahman Kuresh, Guliz Turhan, Duygu Gulgun

Abstract:

The synthetic dyes, one of the most hazardous chemical compound classes, are important potential water pollutions since their presence in water bodies reduces light penetration, precluding the photosynthesis of aqueous flora and causing various diseases. Some the synthetic dyes are highly toxic and/or carcinogenic, and their biodegradation can produce even more toxic aromatic amines. The adsorption procedure is one of the most effective means of removing synthetic dye pollutants, and has been described in a number of previous studies by using the functional polymers. In this study, we investigated the removal of synthetic dyes from aqueous solution by using a functional polymer as an adsorbent material. The effect of initial solution concentration, pH, and contact time on the adsorption capacity of the adsorbent were studied in details. The results showed that functional polymer has a potential to be used as cost-effective and efficient adsorbent for the treatment of aqueous solutions from textile industries.

Keywords: functional polymers, synhetic dyes, adsorption, physicochemical parameters

Procedia PDF Downloads 185
3033 Ab initio Simulation of Y2O3 -Doped Cerium Using Heyd–Scuseria–Ernzerhof HSE Hybrid Functional and DFT+U Approaches

Authors: M. Taibeche, L. Guerbous, M. Kechouane, R. Nedjar, T. Zergoug

Abstract:

It is known that Y2O3 Material is the most important among the sesquioxides within the general class of refractory ceramics. Indeed, this compound has many applications such as sintering optical windows, components for rare-earth doped lasers as well as inorganic scintillators in the detection scintillation. In particular Eu2+ and Ce3+ are favored dopants in many the scintillators due to its allowed optical 5d-4f transition. In this work, we present new results concerning structural and electronic properties of Ce-doped Y2O3, investigated by density functional theory (DFT), using the Heyd–Scuseria–Ernzerhof (HSE) hybrid functional and DFT+U two approaches. When, we compared the results from the two methods we obtain a good agreement available experimental data. Furthermore, the effect of cerium on the material has also been studied and discussed in the same framework.

Keywords: DFT, vienne ab initio simulation packages, scintillators, Heyd–Scuseria–Ernzerhof (HSE) hybrid functional

Procedia PDF Downloads 520
3032 Fundamental Theory of the Evolution Force: Gene Engineering utilizing Synthetic Evolution Artificial Intelligence

Authors: L. K. Davis

Abstract:

The effects of the evolution force are observable in nature at all structural levels ranging from small molecular systems to conversely enormous biospheric systems. However, the evolution force and work associated with formation of biological structures has yet to be described mathematically or theoretically. In addressing the conundrum, we consider evolution from a unique perspective and in doing so we introduce the “Fundamental Theory of the Evolution Force: FTEF”. We utilized synthetic evolution artificial intelligence (SYN-AI) to identify genomic building blocks and to engineer 14-3-3 ζ docking proteins by transforming gene sequences into time-based DNA codes derived from protein hierarchical structural levels. The aforementioned served as templates for random DNA hybridizations and genetic assembly. The application of hierarchical DNA codes allowed us to fast forward evolution, while dampening the effect of point mutations. Natural selection was performed at each hierarchical structural level and mutations screened using Blosum 80 mutation frequency-based algorithms. Notably, SYN-AI engineered a set of three architecturally conserved docking proteins that retained motion and vibrational dynamics of native Bos taurus 14-3-3 ζ.

Keywords: 14-3-3 docking genes, synthetic protein design, time-based DNA codes, writing DNA code from scratch

Procedia PDF Downloads 115
3031 Tomato Lycopene: Functional Properties and Health Benefits

Authors: C. S. Marques, M. J. Reis Lima, J. Oliveira, E. Teixeira-Lemos

Abstract:

The growing concerns for physical wellbeing and health have been reflected in the way we choose food in our table. Nowadays, we are all more informed consumers and choose healthier foods. On the other hand, stroke, cancer and atherosclerosis may be somehow minimized by the intake of some bioactive compounds present in food, the so-called nutraceuticals and functional foods. The aim of this work was to make a revision of the published studies about the effects of some bioactive compounds, namely lycopene in human health, in the prevention of diseases, thus playing the role of a functional food. Free radical in human body can induce cell damage and consequently can be responsible for the development of some cancers and chronic diseases. Lycopene is one of the most powerful antioxidants known, being the predominant carotenoid in tomato. The respective chemistry, bioavailability, and its functional role in the prevention of several diseases will be object of this work. On the other hand the inclusion of lycopene in some foods can also be made by biotechnology and represents a way to recover the wastes in the tomato industry with nutritional positive effects in health.

Keywords: tomato, lycopene, bioavailability, functional foods, carotenoids, cancer and antioxidants

Procedia PDF Downloads 616
3030 Mutations in rpoB, katG and inhA Genes: The Association with Resistance to Rifampicin and Isoniazid in Egyptian Mycobacterium tuberculosis Clinical Isolates

Authors: Ayman K. El Essawy, Amal M. Hosny, Hala M. Abu Shady

Abstract:

The rapid detection of TB and drug resistance, both optimizes treatment and improves outcomes. In the current study, respiratory specimens were collected from 155 patients. Conventional susceptibility testing and MIC determination were performed for rifampicin (RIF) and isoniazid (INH). Genotype MTBDRplus assay, which is a molecular genetic assay based on the DNA-STRIP technology and specific gene sequencing with primers for rpoB, KatG, and mab-inhA genes were used to detect mutations associated with resistance to rifampicin and isoniazid. In comparison to other categories, most of rifampicin resistant (61.5%) and isoniazid resistant isolates (47.1%) were from patients relapsed in treatment. The genotypic profile (using Genotype MTBDRplus assay) of multi-drug resistant (MDR) isolates showed missing of katG wild type 1 (WT1) band and appearance of mutation band katG MUT2. For isoniazid mono-resistant isolates, 80% showed katG MUT1, 20% showed katG MUT1, and inhA MUT1, 20% showed only inhA MUT1. Accordingly, 100% of isoniazid resistant strains were detected by this assay. Out of 17 resistant strains, 16 had mutation bands for katG distinguished high resistance to isoniazid. The assay could clearly detect rifampicin resistance among 66.7% of MDR isolates that showed mutation band rpoB MUT3 while 33.3% of them were considered as unknown. One mono-resistant rifampicin isolate did not show rifampicin mutation bands by Genotype MTBDRplus assay, but it showed an unexpected mutation in Codon 531 of rpoB by DNA sequence analysis. Rifampicin resistance in this strain could be associated with a mutation in codon 531 of rpoB (based on molecular sequencing), and Genotype MTBDRplus assay could not detect the associated mutation. If the results of Genotype MTBDRplus assay and sequencing were combined, this strain shows hetero-resistance pattern. Gene sequencing of eight selected isolates, previously tested by Genotype MTBDRplus assay, could detect resistance mutations mainly in codon 315 (katG gene), position -15 in inhA promotes gene for isoniazid resistance and codon 531 (rpoB gene) for rifampicin resistance. Genotyping techniques allow distinguishing between recurrent cases of reinfection or reactivation and supports epidemiological studies.

Keywords: M. tuberculosis, rpoB, KatG, inhA, genotype MTBDRplus

Procedia PDF Downloads 167
3029 Clinical and Molecular Characterization of Ichthyosis at King Abdulaziz Medical City, Riyadh KSA

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

Abstract:

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
3028 Whole Coding Genome Inter-Clade Comparison to Predict Global Cancer-Protecting Variants

Authors: Lamis Naddaf, Yuval Tabach

Abstract:

In this research, we identified the missense genetic variants that have the potential to enhance resistance against cancer. Such field has not been widely explored, as researchers tend to investigate mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution, and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and can have significant implications on improved risk estimation, diagnostics, prognosis and even for personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and picked up the alleles that showed a correlation with the species’ cancer resistance. We predicted 250 protecting variants (PVs) with a 0.01 false discovery rate and more than 20 thousand PVs with a 0.25 false discovery rate. Cancer resistance in Mammals and reptiles was significantly predicted by the number of PVs a species has. Moreover, Genes enriched with the protecting variants are enriched in pathways relevant to tumor suppression like pathways of Hedgehog signaling and silencing, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are more abundant in healthy people compared to cancer patients within different human races.

Keywords: comparative genomics, machine learning, cancer resistance, cancer-protecting alleles

Procedia PDF Downloads 97
3027 Application of ATP7B Gene Mutation Analysis in Prenatal Diagnosis of Wilson’s Disease

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Chi V. Phan, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le

Abstract:

Wilson’s disease is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper- transporting P-type ATPase (ATP7B). The mechanism of this disease is a failure of hepatic excretion of copper to the bile, and it leads to copper deposits in the liver and other organs. Most clinical symptoms of Wilson’s disease can present as liver disease and/or neurologic disease. Objective: The goal of the study is prenatal diagnosis for pregnant women at high risk of Wilson’s disease in Northern Vietnam. Material and method: Three probands with clinically diagnosed liver disease were detected in the mutations of 21 exons and exon-intron boundaries of the ATP7B gene by direct Sanger-sequencing. Prenatal diagnoses were performed by amniotic fluid sampling from pregnant women in the 16th-18th weeks of pregnancy after the genotypes of parents with the probands were identified. Result: A total of three different mutations of the probands, including of S105*, P1052L, P1273G, were detected. Among three fetuses which underwent prenatal genetic testing, one fetus was homozygote; two fetuses were carriers. Conclusion: Genetic testing provided a useful method for prenatal diagnosis, and is a basis for genetic counseling.

Keywords: ATP7B gene, genetic testing, prenatal diagnosis, pedigree, Wilson disease

Procedia PDF Downloads 455
3026 Platform Integration for High-Throughput Functional Screening Applications

Authors: Karolis Leonavičius, Dalius Kučiauskas, Dangiras Lukošius, Arnoldas Jasiūnas, Kostas Zdanys, Rokas Stanislovas, Emilis Gegevičius, Žana Kapustina, Juozas Nainys

Abstract:

Screening throughput is a common bottleneck in many research areas, including functional genomics, drug discovery, and directed evolution. High-throughput screening techniques can be classified into two main categories: (i) affinity-based screening and (ii) functional screening. The first one relies on binding assays that provide information about the affinity of a test molecule for a target binding site. Binding assays are relatively easy to establish; however, they reveal no functional activity. In contrast, functional assays show an effect triggered by the interaction of a ligand at a target binding site. Functional assays might be based on a broad range of readouts, such as cell proliferation, reporter gene expression, downstream signaling, and other effects that are a consequence of ligand binding. Screening of large cell or gene libraries based on direct activity rather than binding affinity is now a preferred strategy in many areas of research as functional assays more closely resemble the context where entities of interest are anticipated to act. Droplet sorting is the basis of high-throughput functional biological screening, yet its applicability is limited due to the technical complexity of integrating high-performance droplet analysis and manipulation systems. As a solution, the Droplet Genomics Styx platform enables custom droplet sorting workflows, which are necessary for the development of early-stage or complex biological therapeutics or industrially important biocatalysts. The poster will focus on the technical design considerations of Styx in the context of its application spectra.

Keywords: functional screening, droplet microfluidics, droplet sorting, dielectrophoresis

Procedia PDF Downloads 137
3025 Evaluation of Scenedesmus obliquus Carotenoids as Food Colorants, and Antioxidant Activity in Functional Cakes

Authors: Hanaa H. Abd El Baky, Gamal S. El Baroty, Eman A. Ibrahem

Abstract:

Microalgae Scenedesmus obliquus, the carotenoides (astaxanine and β-caroteine) were identified as the major bioactive constituents. In this work we prepared functional pre-biotic cakes to increase general mental health. Functional cakes were formulated by adding algal caroteinods at 2 and 4 mg/100g to flower and the cakes were storage for 20 days. Oxidative stability of both function cakes products were examined during storage periods by DPPH and TBA assays, and the results revealed that both values in function food products were significantly much low than that in untreated food products. Data of sensory evaluation revealed that treated biscuit and cakes with algae or algae extracts were significantly acceptable as control for main sensory characteristics (colour, odour/aroma, flavour, texture, the global appreciation, and overall acceptability). Thus, it could be concluded that functional biscuits and cakes (very popular and well balanced nutritional food) had good sensory and nutritional profiles and can be developed as new niche food market.

Keywords: Scenedesmus obliquus, carotenoids, functional cakes antioxidant, nutritional profiles

Procedia PDF Downloads 284
3024 Whole Coding Genome Inter-Clade Comparisons to Predict Global Cancer-Protecting Variants

Authors: Lamis Naddaf, Yuval Tabach

Abstract:

We identified missense genetic variants with the potential to enhance resistance against cancer. Such a field has not been widely explored as researchers tend to investigate the mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and have significant implications for improved risk estimation, diagnostics, prognosis, and even personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and selected the alleles that showed a correlation with the species’ cancer resistance. Interestingly, we found several amino acids that are more generally preferred (like the Proline) or avoided (like the Cysteine) by the resistant species. Furthermore, Cancer resistance in mammals and reptiles is significantly predicted by the number of the predicted protecting variants (PVs) a species has. Moreover, PVs-enriched-genes are enriched in pathways relevant to tumor suppression. For example, they are enriched in the Hedgehog signaling and silencing pathways, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are mostly more abundant in healthy people compared to cancer patients within different human races.

Keywords: cancer resistance, protecting variant, naked mole rat, comparative genomics

Procedia PDF Downloads 111
3023 Genetic Diversity of Exon-20 of the IIS6 of the Voltage Gated Sodium Channel Gene from Pyrethroid Resistant Anopheles Mosquitoes in Sudan Savannah Region of Jigawa State

Authors: Asma'u Mahe, Abdullahi A. Imam, Adamu J. Alhassan, Nasiru Abdullahi, Sadiya A. Bichi, Nura Lawal, Kamaluddeen Babagana

Abstract:

Malaria is a disease with global health significance. It is caused by parasites and transmitted by Anopheles mosquitoes. Increase in insecticide resistance threatens the disease vector control. The strength of selection pressure acting on a mosquito population in relation to insecticide resistance can be assess by determining the genetic diversity of a fragment spanning exon- 20 of IIS6 of the voltage gated sodium channel (VGSC). Larval samples reared to adulthood were identified and kdr (knock down resistance) profile was determined. The DNA sequences were used to assess the patterns of genetic differentiation by determining the levels of genetic variability between the Anopheles mosquitoes. Genetic differentiation of the Anopheles mosquitoes based on a portion of the voltage gated sodium channel gene was obtained. Polymorphisms were detected; sequence variation and analysis were presented as a phylogenetic tree. Phylogenetic tree of VGSC haplotypes was constructed for samples of the Anopheles mosquitoes using the maximum likelihood method in MEGA 6.0 software. DNA sequences were edited using BioEdit sequence editor. The edited sequences were aligned with reference sequence (Kisumu strain). Analyses were performed as contained in dnaSP 5.10. Results of genetic parameters of polymorphism and haplotype reconstruction were presented in count. Twenty sequences were used for the analysis. Regions selected were 1- 576, invariable (monomorphic) sites were 460 while variable (polymorphic) sites were 5 giving the number of total mutations observed in this study. Mutations obtained from the study were at codon 105: TTC- Phenylalanine replaces TCC- Serine, codon 513: TAG- Termination replaces TTG- Leucine, codon 153, 300 and 553 mutations were non-synonymous. From the constructed phylogenetic tree, some groups were shown to be closer with Exon20Gambiae Kisumu (Reference strain) having some genetic distance, while 5-Exon20Gambiae-F I13.ab1, 18-Exon20Gambiae-F C17.ab1, and 2-Exon20Gambiae-F C13.ab1 clustered together genetically differentiated away from others. Mutations observed in this study can be attributed to the high insecticide resistance profile recorded in the study areas. Haplotype networks of pattern of genetic variability and polymorphism for the fragment of the VGSC sequences of sampled Anopheles mosquitoes revealed low haplotypes for the present study. Haplotypes are set of closely linked DNA variation on X-chromosome. Haplotypes were scaled accordingly to reflect their respective frequencies. Low haplotype number, four VGSC-1014F haplotypes were observed in this study. A positive association was previously established between low haplotype number of VGSC diversity and pyrethroid resistance through kdr mechanism. Significant values at (P < 0.05) of Tajima D and Fu and Li D’ were observed for some of the results indicating possible signature of positive selection on the fragment of VGSC in the study. This is the first report of VGSC-1014F in the study site. Based on the results, the mutation was present in low frequencies. However, the roles played by the observed mutations need further investigation. Mutations, environmental factors among others can affect genetic diversity. The study area has recorded increase in insecticide resistance that can affect vector control in the area. This finding might affect the efforts made against malaria. Sequences were deposited in GenBank for Accession Number.

Keywords: anopheles mosquitoes, insecticide resistance, kdr, malaria, voltage gated sodium channel

Procedia PDF Downloads 66
3022 The Effect of Hydrogen on the Magnetic Properties of ZnO: A Density Functional Tight Binding Study

Authors: M. A. Lahmer, K. Guergouri

Abstract:

The ferromagnetic properties of carbon-doped ZnO (ZnO:CO) and hydrogenated carbon-doped ZnO (ZnO:CO+H) are investigated using the density functional tight binding (DFTB) method. Our results reveal that CO-doped ZnO is a ferromagnetic material with a magnetic moment of 1.3 μB per carbon atom. The presence of hydrogen in the material in the form of CO-H complex decreases the total magnetism of the material without suppressing ferromagnetism. However, the system in this case becomes quickly antiferromagnetic when the C-C separation distance was increased.

Keywords: ZnO, carbon, hydrogen, ferromagnetism, density functional tight binding

Procedia PDF Downloads 287
3021 Modeling of Alpha-Particles’ Epigenetic Effects in Short-Term Test on Drosophila melanogaster

Authors: Z. M. Biyasheva, M. Zh. Tleubergenova, Y. A. Zaripova, A. L. Shakirov, V. V. Dyachkov

Abstract:

In recent years, interest in ecogenetic and biomedical problems related to the effects on the population of radon and its daughter decay products has increased significantly. Of particular interest is the assessment of the consequence of irradiation at hazardous radon areas, which includes the Almaty region due to the large number of tectonic faults that enhance radon emanation. In connection with the foregoing, the purpose of this work was to study the genetic effects of exposure to supernormal radon doses on the alpha-radiation model. Irradiation does not affect the growth of the cell, but rather its ability to differentiate. In addition, irradiation can lead to somatic mutations, morphoses and modifications. These damages most likely occur from changes in the composition of the substances of the cell. Such changes are epigenetic since they affect the regulatory processes of ontogenesis. Variability in the expression of regulatory genes refers to conditional mutations that modify the formation of signs of intraspecific similarity. Characteristic features of these conditional mutations are the dominant type of their manifestation, phenotypic asymmetry and their instability in the generations. Currently, the terms “morphosis” and “modification” are used to describe epigenetic variability, which are maintained in Drosophila melanogaster cultures using linkaged X- chromosomes, and the mutant X-chromosome is transmitted along the paternal line. In this paper, we investigated the epigenetic effects of alpha particles, whose source in nature is mainly radon and its daughter decay products. In the experiment, an isotope of plutonium-238 (Pu238), generating radiation with an energy of about 5500 eV, was used as a source of alpha particles. In an experiment in the first generation (F1), deformities or morphoses were found, which can be called "radiation syndromes" or mutations, the manifestation of which is similar to the pleiotropic action of genes. The proportion of morphoses in the experiment was 1.8%, and in control 0.4%. In this experiment, the morphoses in the flies of the first and second generation looked like black spots, or melanomas on different parts of the imago body; "generalized" melanomas; curled, curved wings; shortened wing; bubble on one wing; absence of one wing, deformation of thorax, interruption and violation of tergite patterns, disruption of distribution of ocular facets and bristles; absence of pigmentation of the second and third legs. Statistical analysis by the Chi-square method showed the reliability of the difference in experiment and control at P ≤ 0.01. On the basis of this, it can be considered that alpha particles, which in the environment are mainly generated by radon and its isotopes, have a mutagenic effect that manifests itself, mainly in the formation of morphoses or deformities.

Keywords: alpha-radiation, genotoxicity, morphoses, radioecology, radon

Procedia PDF Downloads 152
3020 Activation of Mitophagy and Autophagy in Familial Forms of Parkinson's Disease, as a Potential Strategy for Cell Protection

Authors: Nafisa Komilova, Plamena Angelova, Andrey Abramov, Ulugbek Mirkhodjaev

Abstract:

Parkinson’s disease (PD) is a progressive neurodegenerative disorder which is induced by the loss of dopaminergic neurons in the midbrain. The mechanism of neurodegeneration is associated with the aggregation of misfolded proteins, oxidative stress, and mitochondrial disfunction. Considering this, the process of removal of unwanted organelles or proteins by autophagy is vitally important in neurons, and activation of these processes could be protective in PD. Short-time acidification of cytosol can activate mitophagy and autophagy, and here we used sodium pyruvate and sodium lactate in human fibroblasts with PD mutations (Pink1, Pink1/Park2, α-syn triplication, A53T) to induce changes in intracellular pH. We have found that both lactate and pyruvate in millimolar concentrations can induce short-time acidification of cytosol in these cells. It induced activation of mitophagy and autophagy in control and PD fibroblasts and protected against cell death. Importantly, the application of lactate to acute brain slices of control and Pink1 knockout mice also induced a reduction of pH in neurons and astrocytes that increase the level of mitophagy. Thus, acidification of cytosol by compounds which play important role in cell metabolism also can activate mitophagy and autophagy and protect cells in the familial form of PD.

Keywords: Parkinson's disease, mutations, mitophagy, autophagy

Procedia PDF Downloads 197
3019 All Types of Base Pair Substitutions Induced by γ-Rays in Haploid and Diploid Yeast Cells

Authors: Natalia Koltovaya, Nadezhda Zhuchkina, Ksenia Lyubimova

Abstract:

We study the biological effects induced by ionizing radiation in view of therapeutic exposure and the idea of space flights beyond Earth's magnetosphere. In particular, we examine the differences between base pair substitution induction by ionizing radiation in model haploid and diploid yeast Saccharomyces cerevisiae cells. Such mutations are difficult to study in higher eukaryotic systems. In our research, we have used a collection of six isogenic trp5-strains and 14 isogenic haploid and diploid cyc1-strains that are specific markers of all possible base-pair substitutions. These strains differ from each other only in single base substitutions within codon-50 of the trp5 gene or codon-22 of the cyc1 gene. Different mutation spectra for two different haploid genetic trp5- and cyc1-assays and different mutation spectra for the same genetic cyc1-system in cells with different ploidy — haploid and diploid — have been obtained. It was linear function for dose-dependence in haploid and exponential in diploid cells. We suggest that the differences between haploid yeast strains reflect the dependence on the sequence context, while the differences between haploid and diploid strains reflect the different molecular mechanisms of mutations.

Keywords: base pair substitutions, γ-rays, haploid and diploid cells, yeast Saccharomyces cerevisiae

Procedia PDF Downloads 156
3018 Experimental Study on the Effectiveness of Functional Training for Female College Students' Physical Fitness and Sport Skills

Authors: Yangming Zhu, Mingming Guo, Xiaozan Wang

Abstract:

Introduction: The purpose of this study is to integrate functional training into physical education to test the effectiveness of functional training in improving the physical fitness (PF) and sport skills (SS) of female college students. Methods: A total of 54 female college students from East China Normal University were selected for this study (27 in the experimental group and 27 in the control group), and 13 weeks of the experimental intervention was conducted during the semester. During the experimental period, the experimental group was functionally trained for 1 hour per week. The control group performed one-hour weekly sports (such as basketball, football, etc.) as usual. Before and after the experiment, the national students' physical fitness test was used to test the PF of the experimental group and the control group, and the SS of the experimental group and the control group were tested before and after the intervention. Then using SPSS and Excel to organize and analyze the data. Results: The independent sample T-test showed that there was no significant difference in the PF and SS between the experimental group and the control group before the experiment (T PF=71.86, p PF> 0.05, Tₛₛ=82.41,pₛₛ > 0.05); After the experiment, the PF of the experimental group was significantly higher than that of the control group (T Improve=71.86, p Improve < 0.05); after the experiment, the SS of the experimental group was significantly higher than that of the control group (Tₛₛ = 1.31, pₛₛ <0.01) Conclusions: Integrating functional training into physical education can improve the PF of female college students. At the same time, the integration of functional training into physical education can also effectively improve the SS of female college students. Therefore, it is suggested that functional training be integrated into the daily physical education of female college students so as to improve their PF and SS.

Keywords: functional training, physical fitness, sport skills, female college students

Procedia PDF Downloads 131
3017 Task Based Functional Connectivity within Reward Network in Food Image Viewing Paradigm Using Functional MRI

Authors: Preetham Shankapal, Jill King, Kori Murray, Corby Martin, Paula Giselman, Jason Hicks, Owen Carmicheal

Abstract:

Activation of reward and satiety networks in the brain while processing palatable food cues, as well as functional connectivity during rest has been studied using functional Magnetic Resonance Imaging of the brain in various obesity phenotypes. However, functional connectivity within the reward and satiety network during food cue processing is understudied. 14 obese individuals underwent two fMRI scans during viewing of Macronutrient Picture System images. Each scan included two blocks of images of High Sugar/High Fat (HSHF), High Carbohydrate/High Fat (HCHF), Low Sugar/Low Fat (LSLF) and also non-food images. Seed voxels within seven food reward relevant ROIs: Insula, putamen and cingulate, precentral, parahippocampal, medial frontal and superior temporal gyri were isolated based on a prior meta-analysis. Beta series correlation for task-related functional connectivity between these seed voxels and the rest of the brain was computed. Voxel-level differences in functional connectivity were calculated between: first and the second scan; individuals who saw novel (N=7) vs. Repeated (N=7) images in the second scan; and between the HC/HF, HSHF blocks vs LSLF and non-food blocks. Computations and analysis showed that during food image viewing, reward network ROIs showed significant functional connectivity with each other and with other regions responsible for attentional and motor control, including inferior parietal lobe and precentral gyrus. These functional connectivity values were heightened among individuals who viewed novel HS/HF images in the second scan. In the second scan session, functional connectivity was reduced within the reward network but increased within attention, memory and recognition regions, suggesting habituation to reward properties and increased recollection of previously viewed images. In conclusion it can be inferred that Functional Connectivity within reward network and between reward and other brain regions, varies by important experimental conditions during food photography viewing, including habituation to shown foods.

Keywords: fMRI, functional connectivity, task-based, beta series correlation

Procedia PDF Downloads 273
3016 The Effectiveness of Using Functional Rehabilitation with Children of Cerebral Palsy

Authors: Bara Yousef

Abstract:

The development of independency and functional participation is an important therapeutic goal for many children with cerebral palsy,They was many therapeutic approach have been used for treatment those children like neurodevelopment treatment, balance training strengthening and stretching exercise. More recently, therapy for children with cerebral palsy has focused on achieving functional goals using task-oriented interventions and summer camping model, which focus on activities that relevant and meaningful to the child, to learn more efficient and effective motor skills. We explore the effectiveness of using functional rehabilitation comparing with regular rehabilitation among 40 Saudi children with cerebral palsy in pediatric unit at Sultan Bin Abdul Aziz Humanitarian City-Ksa ,where 20 children randomly assign in control group who received rehabilitation based on regular therapy approach and other 20 children assign on experiment group who received rehabilitation based on functional therapy approach with an average of 45min OT treatment and 45 min PT treatment- daily within a period of 6 week. Our finding reported that children in experiment group has improved in gross motor function with an average from 49.4 to 57.6 based on GMFM 66 as primary outcome measure and improved in WeeFIM with an average from 52 to 62 while children in control group has improved with an average from 48.4 to 53.7 in GMFM and from 53 to and 58 in WeeFIM. Consequently, there has been growing interest in determining the effects of functional training programs as promising approach for these children.

Keywords: Cerebral Palsy (CP), gross motor function measure (GMFM66), pediatric Functional Independent Measure (WeeFIM), rehabilitation, disability

Procedia PDF Downloads 382
3015 On Parameter Estimation of Simultaneous Linear Functional Relationship Model for Circular Variables

Authors: N. A. Mokhtar, A. G. Hussin, Y. Z. Zubairi

Abstract:

This paper proposes a new simultaneous simple linear functional relationship model by assuming equal error variances. We derive the maximum likelihood estimate of the parameters in the simultaneous model and the covariance. We show by simulation study the small bias values of the parameters suggest the suitability of the estimation method. As an illustration, the proposed simultaneous model is applied to real data of the wind direction and wave direction measured by two different instruments.

Keywords: simultaneous linear functional relationship model, Fisher information matrix, parameter estimation, circular variables

Procedia PDF Downloads 367
3014 Proximate, Functional and Sensory Evaluation of Some Brands of Instant Noodles in Nigeria

Authors: Olakunle Moses Makanjuola, Adebola Ajayi

Abstract:

Noodles are made from unleavened dough, rolled flat and cut into shapes. The instant noodle market is growing fast in Asian countries and is gaining popularity in the western market. This project reports on the proximate functional and sensory evaluation of different brands of instant noodles in Nigeria. The comparisons were based on proximate functional and sensory evaluation of the product. The result obtained from the proximate analysis showed that sample QHR has the highest moisture content, sample BMG has the highest protein content, sample CPO has the highest fat content, sample. The obtained result from the functional properties showed that sample BMG (Dangote noodles) had the highest volume increase after cooking due to its high swelling capacity, high water absorption capacity and high hydration capacity. Sample sensory analysis of the noodles showed that all the samples are of significant difference (at P < 0.05) in terms of colour, texture, and aroma but there is no significant difference in terms of taste and overall acceptability. Sample QHR (Indomie noodles) is the most preferred by the panelists.

Keywords: proximate, functional, sensory evaluation, noodles

Procedia PDF Downloads 254