Search results for: rabbit genetics

Authors: Yuriy A. Knirel

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Enteric bacteria Escherichia coli is the predominant facultative anaerobe of the colonic flora, and some specific serotypes are associated with enteritis, hemorrhagic colitis, and hemolytic uremic syndrome. Shigella spp. are human pathogens that cause diarrhea and bacillary dysentery (shigellosis). They are in effect E. coli with a specific mode of pathogenicity. Strains of Salmonella enterica are responsible for a food-borne infection (salmonellosis), and specific serotypes cause typhoid fever and paratyphoid fever. All these bacteria are closely related in respect to structure and genetics of the lipopolysaccharide, including the O-polysaccharide part (O‑antigen). Being exposed to the bacterial cell surface, the O antigen is subject to intense selection by the host immune system and bacteriophages giving rise to diverse O‑antigen forms and providing the basis for typing of bacteria. The O-antigen forms of many bacteria are unique, but some are structurally and genetically related to others. The sequenced O-antigen gene clusters between conserved galF and gnd genes were analyzed taking into account the O-antigen structures established by us and others for all S. enterica and Shigella and most E. coli O-serogroups. Multiple genetic mechanisms of diversification of the O-antigen forms, such as lateral gene transfer and mutations, were elucidated and are summarized in the present paper. They include acquisition or inactivation of genes for sugar synthesis or transfer or recombination of O-antigen gene clusters or their parts. The data obtained contribute to our understanding of the origins of the O‑antigen diversity, shed light on molecular evolutionary relationships between the O-antigens of enteric bacteria, and open a way for studies of the role of gene polymorphism in pathogenicity.

Keywords: enteric bacteria, O-antigen gene cluster, polysaccharide biosynthesis, polysaccharide structure

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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In India, genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. A cross-sectional survey of selected health amenities in the government health sector was conducted from 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH) and 3 referral hospitals (RH’s). From these, the existing manpower like 130 medical officers (MO’s), 254 supporting staff, 409 nursing staff (NS) and 45 lab technicians (LT’s) was examined. From the side of private health institutions, 25 corporate hospitals (CH’s), 3 medical colleges (MC’s) and 25 diagnostic laboratories (DL’s) were selected for the survey and from these, 316 MO’s, 995 NS and 254 LT’s were also reviewed. The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.

Keywords: district health system, genetic disorder, infrastructural amenities, management practices

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Authors: Sammy Kibor, Filip Huyghe, Marc Kochzius, James Kairo

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Goldstripe Sardinella, Sardinella gibbosa, (Bleeker, 1849) is a commercially and ecologically important small pelagic fish common in the Western Indian Ocean region. The present study aimed to assess genetic diversity and population structure of the species in the Kenya-Tanzania transboundary area using mtDNA and msDNA markers. Some 630 bp sequence in the mitochondrial DNA (mtDNA) Cytochrome C Oxidase I (COI) and five polymorphic microsatellite DNA loci were analyzed. Fin clips of 309 individuals from eight locations within the transboundary area were collected between July and December 2018. The S. gibbosa individuals from the different locations were distinguishable from one another based on the mtDNA variation, as demonstrated with a neighbor-joining tree and minimum spanning network analysis. None of the identified 22 haplotypes were shared between Kenya and Tanzania. Gene diversity per locus was relatively high (0.271-0.751), highest Fis was 0.391. The structure analysis, discriminant analysis of Principal component (DAPC) and the pair-wise (FST = 0.136 P < 0.001) values after Bonferroni correction using five microsatellite loci provided clear inference on genetic differentiation and thus evidence of population structure of S. gibbosa along the Kenya-Tanzania coast. This study shows a high level of genetic diversity and the presence of population structure (Φst =0.078 P < 0.001) resulting to the existence of four populations giving a clear indication of minimum gene flow among the population. This information has application in the designing of marine protected areas, an important tool for marine conservation.

Keywords: marine connectivity, microsatellites, population genetics, transboundary

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

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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

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Authors: Louise Moles, Steve Riley, Sarah D. Lichenstein, Marzieh Babaeianjelodar, Robert Kohler, Annie Cheng, Corey Horien Abigail Greene, Wenjing Luo, Jonathan Ahern, Bohan Xu, Yize Zhao, Chun Chieh Fan, R. Todd Constable, Sarah W. Yip

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Background: Risks for depression are myriad and include both genetic and brain-based factors. However, relationships between these systems are poorly understood, limiting understanding of disease etiology, particularly at the developmental level. Methods: We use a data-driven machine learning approach connectome-based predictive modeling (CPM) to identify functional connectivity signatures associated with polygenic risk scores for depression (DEP-PRS) among youth from the Adolescent Brain and Cognitive Development (ABCD) study across diverse brain states, i.e., during resting state, during affective working memory, during response inhibition, during reward processing. Results: Using 10-fold cross-validation with 100 iterations and permutation testing, CPM identified connectivity signatures of DEP-PRS across all examined brain states (rho’s=0.20-0.27, p’s<.001). Across brain states, DEP-PRS was positively predicted by increased connectivity between frontoparietal and salience networks, increased motor-sensory network connectivity, decreased salience to subcortical connectivity, and decreased subcortical to motor-sensory connectivity. Subsampling analyses demonstrated that model accuracies were robust across random subsamples of N’s=1,000, N’s=500, and N’s=250 but became unstable at N’s=100. Conclusions: These data, for the first time, identify neural networks of polygenic depression risk in a large sample of youth before the onset of significant clinical impairment. Identified networks may be considered potential treatment targets or vulnerability markers for depression risk.

Keywords: genetics, functional connectivity, pre-adolescents, depression

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Authors: Yamunah Devi Apalasamy, Sanjay Rampal, Tin Tin Su, Foong Ming Moy, Hazreen Abdul Majid, Awang Bulgiba, Zahurin Mohamed

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Obesity is a growing global health issue. Obesity results from a combination of environmental and genetics factors. Brain-derived neurotrophic factor (BDNF), a gene encodes the BDNF protein and the BDNF gene have been linked to regulation of body weight and appetite. Genome-wide association studies have identified the BDNF variants to be related to obesity among Caucasians, East Asians, and Filipinos. However, the role of BDNF in other ethnic groups remains inconclusive. This case control study aims to investigate the associations of BDNF gene polymorphisms with obesity and metabolic parameters in Malaysian Malays. BDNF rs4074134, BDNF rs10501087 and BDNF rs6265 were genotyped using Sequenom MassARRAY. Anthropometric, body fat, fasting lipids and glucose levels were measured. A total of 663 subjects (194 obese and 469 non-obese) were included in this study. There were no significant associations association between BDNF SNPs and obesity. The allelic and genotype frequencies of the BDNF SNPs were similar in the obese and non-obese groups. After adjustment for age and sex, the BDNF variants were not associated with obesity, body fat, fasting lipids and glucose levels. Haplotypes at the BDNF gene region, were not significantly associated with obesity. The BDNF rs4074134 was in strong LD with BDNF rs10501087 (D'=0.98) and BDNF rs6265 (D'=0.87). The BDNF rs10501087 was also in strong LD with BDNF rs6265 (D'=0.91). Our findings suggest that the BDNF variants and the haplotypes of BDNF gene were not associated with obesity and metabolic traits in this study population. Further research is needed to explore other BDNF variants with a larger sample size with gene-environment interactions in multi ethnic Malaysian population.

Keywords: genomics of obesity, SNP, BMI, haplotypes

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Authors: J. DeBoard, R. Dietrich, J. Hughes, K. Yurko, G. Harms

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Alzheimer’s disease (AD) is a predominant type of dementia and is likely a major cause of neural network impairment. The pathogenesis of this neurodegenerative disorder has yet to be fully elucidated. There are currently no known cures for the disease, and the best hope is to be able to detect it early enough to impede its progress. Beyond age and genetics, another prevalent risk factor for AD might be traumatic brain injury (TBI), which has similar neurodegenerative hallmarks. Our research focuses on obtaining information and methods to be able to predict when neurodegenerative effects might occur at a clinical level by observation of events at a cellular and molecular level in model mice. First, we wish to introduce our evidence that brain damage can be observed via brain imaging prior to the noticeable loss of neuromuscular control in model mice of AD. We then show our evidence that some blood biomarkers might be able to be early predictors of AD in the same model mice. Thus, we were interested to see if we might be able to predict which mice might show long-term neurodegenerative effects due to differing degrees of TBI and what level of TBI causes further damage and earlier death to the AD model mice. Upon application of TBIs via an apparatus to effectively induce extremely mild to mild TBIs, wild-type (WT) mice and AD mouse models were tested for cognition, neuromuscular control, olfactory ability, blood biomarkers, and brain imaging. Experiments are currently still in process, and more results are therefore forthcoming. Preliminary data suggest that neuromotor control diminishes as well as olfactory function for both AD and WT mice after the administration of five consecutive mild TBIs. Also, seizure activity increases significantly for both AD and WT after the administration of the five TBI treatment. If future data supports these findings, important implications about the effect of TBI on those at risk for AD might be possible.

Keywords: Alzheimer's disease, blood biomarker, neurodegeneration, neuromuscular control, olfaction, traumatic brain injury

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Authors: Weiliang Wen, Xinyu Guo, Ying Zhang, Jianjun Du, Boxiang Xiao

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Reconstructing and analyzing three-dimensional (3D) models from situ measured data is important for a number of researches and applications in plant science, including plant phenotyping, functional-structural plant modeling (FSPM), plant germplasm resources protection, agricultural technology popularization. It has many scales like cell, tissue, organ, plant and canopy from micro to macroscopic. The techniques currently used for data capture, feature analysis, and 3D reconstruction are quite different of different scales. In this context, morphological data acquisition, 3D analysis and modeling of plants on different scales are introduced systematically. The commonly used data capture equipment for these multiscale is introduced. Then hot issues and difficulties of different scales are described respectively. Some examples are also given, such as Micron-scale phenotyping quantification and 3D microstructure reconstruction of vascular bundles within maize stalks based on micro-CT scanning, 3D reconstruction of leaf surfaces and feature extraction from point cloud acquired by using 3D handheld scanner, plant modeling by combining parameter driven 3D organ templates. Several application examples by using the 3D models and analysis results of plants are also introduced. A 3D maize canopy was constructed, and light distribution was simulated within the canopy, which was used for the designation of ideal plant type. A grape tree model was constructed from 3D digital and point cloud data, which was used for the production of science content of 11th international conference on grapevine breeding and genetics. By using the tissue models of plants, a Google glass was used to look around visually inside the plant to understand the internal structure of plants. With the development of information technology, 3D data acquisition, and data processing techniques will play a greater role in plant science.

Keywords: plant, three dimensional modeling, multi-scale, plant phenotyping, three dimensional data acquisition

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Authors: M. Medrano, M. D. M. S., L. Younes, M. D.

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Introduction: Incidence of tibial hemimelia is 1:1,000,000. Due to pre-existing case studies and literature, there is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia, but an underlying cause is generally unknown. This presentation aims to discuss a rare, congenital lower limb deficiency observed in a patient in order to identify potential prenatal risk factors and future considerations for the patient’s well-being. Observation: A newborn female child, born full term via spontaneous vaginal delivery after induction of labor to unaffected and non-consanguineous parents. The prenatal course was notable for limited and disjointed prenatal care as well as maternal tobacco and marijuana use, anemia of pregnancy, and inadequate weight gain. Prenatal imaging showed lower extremity deformity with the inability to visualize tibia and bilateral clubfeet in the setting of Intrauterine Growth Restriction (IUGR). The patient presented with right equino varus deformity of the foot and right knee joint deformity. Radiological imaging showed the absence of the right tibia and varus angulation of the right foot with dislocation of the tibiotalar joint. Normal femur with lateral and mild anterior displacement of a wide fibula (Weber Type VIIa). Due to the absence of the patient’s tibia and knee extensor mechanism, the patient was not a candidate for reconstructive surgery and ultimately underwent successful right knee disarticulation. Discussion and Conclusion: By utilizing a retrospective chart review of this case, possible risk factors in prenatal care may be identified and add to existing knowledge on etiology. Hopefully, a cause can be clearly identified in the future and, thus, addressed in the prenatal period. In addition, we can investigate the patient’s well-being and adjustment post-operatively to support outpatient management of an uncommon anomaly.

Keywords: Tibial hemimelia, prenatal care, pediatric orthopedics, congenital deformity

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Authors: Saule Mussabekova

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Recent advances in genetics have allowed increasing acutely the capacities of the formation of reliable evidence in conducting forensic examinations. Thus, traces of biological origin are important sources of information about a crime. Currently, around the world, sexual offenses have increased, and among them are those in which the criminals use various detergents to remove traces of their crime. A feature of modern synthetic detergents is the presence of biological additives - enzymes. Enzymes purposefully destroy stains of biological origin. To study the nature and extent of the impact of modern washing powders on saliva stains on the physical evidence, specially prepared test specimens of different types of tissues to which saliva was applied have been examined. Materials and Methods: Washing machines of famous manufacturers of household appliances have been used with different production characteristics and advertised brands of washing powder for test washing. Over 3,500 experimental samples were tested. After washing, the traces of saliva were identified using modern research methods of forensic medicine. Results: The influence was tested and the dependence of the use of different washing programs, types of washing machines and washing powders in the process of establishing saliva trace and identify of the stains on the physical evidence while washing was revealed. The results of experimental and practical expert studies have shown that in most cases it is not possible to draw the conclusions in the identification of saliva traces on physical evidence after washing. This is a consequence of the effect of biological additives and other additional factors on traces of saliva during washing. Conclusions: On the basis of the results of the study, the feasibility of saliva traces of the stains on physical evidence after washing is established. The use of modern molecular genetic methods makes it possible to partially solve the problems arising in the study of unlaundered evidence. Additional study of physical evidence after washing facilitates detection and investigation of sexual offenses against women and children.

Keywords: saliva research, modern synthetic detergents, laundry detergents, forensic medicine

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Authors: Masbubul Ishtiaque Ahmed

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Food chain contamination by heavy metals has become a critical issue in recent years because of their potential accumulation in bio systems through contaminated water, soil and irrigation water. Industrial discharge, fertilizers, contaminated irrigation water, fossil fuels, sewage sludge and municipality wastes are the major sources of heavy metal contamination in soils and subsequent uptake by crops. The main objectives of this project were to determine the levels of minerals, trace elements and heavy metals in major foods and beverages consumed by the poor and non-poor households of Dhaka city and assess the dietary risk exposure to heavy metal and trace metal contamination and potential health implications as well as recommendations for action. Heavy metals are naturally occurring elements that have a high atomic weight and a density of at least 5 times greater than that of water. Their multiple industrial, domestic, agricultural, medical and technological applications have led to their wide distribution in the environment; raising concerns over their potential effects on human health and the environment. Their toxicity depends on several factors including the dose, route of exposure, and chemical species, as well as the age, gender, genetics, and nutritional status of exposed individuals. Because of their high degree of toxicity, arsenic, cadmium, chromium, lead, and mercury rank among the priority metals that are of public health significance. These metallic elements are considered systemic toxicants that are known to induce multiple organ damage, even at lower levels of exposure. This review provides an analysis of their environmental occurrence, production and use, potential for human exposure, and molecular mechanisms of toxicity, and carcinogenicity.

Keywords: food chain, determine the levels of minerals, trace elements, heavy metals, production and use, human exposure, toxicity, carcinogenicity

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Authors: Simmi Chopra

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In the last few years, there has been a surge of Autoimmune diseases that have become more like an epidemic all over the world. The reasons vary from stress, insufficient sleep, smoking, genetics, environmental pollution, adulterated foods, and a diet full of “the deadly white,” which is white sugar and white flour. Most of the people diagnosed with these diseases are given steroids, opioids, supplements, or elimination diets to manage their lives, but most of them continue suffering to varying degrees. On the other hand, Ayurveda can help manage autoimmune problems effectively. Ayurveda is a 5000 years old holistic medical system from India that has an individualistic approach where health problems are looked at from the lens of balancing body and mind and by targeting the root cause of the problem. A combination of diet and lifestyle according to Ayurvedic principles, Ayurvedic herbal formulations and Ayurvedic therapies can help in the management of autoimmune and other chronic diseases. Panchkarma, which is an intense six weeks detox method, helps balance our body and mind, and has been very effective in managing autoimmune problems. The paper will introduce the basic concepts of Ayurveda and describe the terminologies- doshas, agni and ama. The paper will discuss the importance of diet and lifestyle according to the individual’s imbalance in the three functional parameters - doshas, which govern every aspect of our body and mind, our cells and tissues. The significance of agni, which can be correlated to digestive strength and ama, which can be correlated to toxins that are formed in our body leading to health problems, will be outlined. The Ayurvedic pathophysiology of autoimmune diseases will be discussed with emphasis on Rheumatoid arthritis, Multiple sclerosis and Psoriasis. Ayurvedic management will be discussed for these autoimmune conditions. As Ayurveda is an individualistic system, one protocol will not work for everyone. Therefore, case studies with Ayurvedic protocols for the above autoimmune disease will be presented. Conclusion: Ayurveda can help in managing as well as arresting the progression of autoimmune problems. Ayurveda is an ancient medical system, is much more needed today than ever. It is a tried and tested holistic system which has been practiced for the past many generations in India.

Keywords: ayurveda, autoimmune, diseases, nutrition

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Authors: Mudrika Singhal

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The research paper is basically about how the genetically modified organisms evolved and their significance in today’s world. It also highlights about the various pros and cons of the genetically modified organisms and the progress of India in this field. A genetically modified organism is the one whose genetic material has been altered using genetic engineering techniques. They have a wide range of uses such as transgenic plants, genetically modified mammals such as mouse and also in insects and aquatic life. Their use is rooted back to the time around 12,000 B.C. when humans domesticated plants and animals. At that humans used genetically modified organisms produced by the procedure of selective breeding and not by genetic engineering techniques. Selective breeding is the procedure in which selective traits are bred in plants and animals and then are domesticated. Domestication of wild plants into a suitable cultigen is a well known example of this technique. GMOs have uses in varied fields ranging from biological and medical research, production of pharmaceutical drugs to agricultural fields. The first organisms to be genetically modified were the microbes because of their simpler genetics. At present the genetically modified protein insulin is used to treat diabetes. In the case of plants transgenic plants, genetically modified crops and cisgenic plants are the examples of genetic modification. In the case of mammals, transgenic animals such as mice, rats etc. serve various purposes such as researching human diseases, improvement in animal health etc. Now coming upon the pros and cons related to the genetically modified organisms, pros include crops with higher yield, less growth time and more predictable in comparison to traditional breeding. Cons include that they are dangerous to mammals such as rats, these products contain protein which would trigger allergic reactions. In India presently, group of GMOs include GM microorganisms, transgenic crops and animals. There are varied applications in the field of healthcare and agriculture. In the nutshell, the research paper is about the progress in the field of genetic modification, taking along the effects in today’s world.

Keywords: applications, mammals, transgenic, engineering and technology

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Authors: Tania Vasquez Mata, Luis A. Herrera, Cristian Arriaga Canon

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Background: Locally advanced breast cancer of the luminal B phenotype, poses challenges due to its variable response to neoadjuvant chemotherapy. A predictive biomarker is needed to identify patients who will not respond to treatment, allowing for alternative therapies. This study aims to validate the use of the lncRNA GATA3-AS1, as a predictive biomarker using RNA in situ hybridization. Research aim: The aim of this study is to determine if GATA3-AS1 can serve as a biomarker for resistance to neoadjuvant chemotherapy in patients with locally advanced luminal B breast cancer. Methodology: The study utilizes RNA in situ hybridization with predesigned probes for GATA3-AS1 on Formalin-Fixed Paraffin-Embedded tissue sections. The samples underwent pretreatment and protease treatment to enable probe penetration. Chromogenic detection and signal evaluation were performed using specific criteria. Findings: Patients who did not respond to neoadjuvant chemotherapy showed a 3+ score for GATA3-AS1, while those who had a complete response had a 1+ score. Theoretical importance: This study demonstrates the potential clinical utility of GATA3-AS1 as a biomarker for resistance to neoadjuvant chemotherapy. Identifying non-responders early on can help avoid unnecessary treatment and explore alternative therapy options. Data collection and analysis procedures: Tissue samples from patients with locally advanced luminal B breast cancer were collected and processed using RNA in situ hybridization. Signal evaluation was conducted under a microscope, and scoring was based on specific criteria. Questions addressed: Can GATA3-AS1 serve as a predictive biomarker for neoadjuvant chemotherapy response in locally advanced luminal B breast cancer? Conclusion: The lncRNA GATA3-AS1 can be used as a biomarker for resistance to neoadjuvant chemotherapy in patients with locally advanced luminal B breast cancer. Its identification through RNA in situ hybridization of tissue obtained from the initial biopsy can aid in treatment decision-making.

Keywords: biomarkers, breast neoplasms, genetics, neoadjuvant therapy, tumor

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Authors: Nicole Ramlachan, Samuel Mark West

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

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

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Authors: Nwogiji Cletus Olando, Oselebe Happiness Ogba, Enoch Achigan-Dako

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Digitaria iburua, commonly known as black fonio, is a cereal crop native to Africa and extensively cultivated by smallholder farmers in Northern Benin, Togo, and Nigeria. This crop holds immense nutritional and socio-cultural value. Unfortunately, limited knowledge about its genetic diversity exists due to a lack of scientific attention. As a result, its potential for improvement in food and agriculture remains largely untapped. To address this gap, a study was conducted using 41 accessions of D. iburua stored in the genebank of the Laboratory of Genetics, Biotechnology, and Seed Science at Abomey-Calavi University, Benin. The study employed both morphological and simple sequence repeat (SSR) markers to evaluate the genetic variability of the accessions. Agro-morphological assessments were carried out during the 2020 cropping season, utilizing an alpha lattice design with three replications. The collected data encompassed qualitative and quantitative traits. Additionally, molecular variability was assessed using eleven SSR markers. The results revealed significant phenotypic variability among the evaluated accessions, leading to their classification into three main clusters. Furthermore, the eleven SSR markers identified a total of 50 alleles, averaging 4.55 alleles per locus. The primers exhibited an average polymorphic information content value of 0.43, with the DE-ARC019 primer displaying the highest value (0.59). These findings suggest a substantial degree of genetic heterogeneity within the evaluated accessions, and the SSR markers employed in the study proved highly effective in detecting and characterizing this genetic variability. In conclusion, this study highlights the presence of significant genetic diversity in black fonio and provides valuable insights for future efforts aimed at its genetic improvement and conservation.

Keywords: genetic diversity, digitaria iburua, genetic improvement, simple sequence repeat markers, Nigeria, conservation

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Authors: Anita Paddy, Millicent Obodai, Lebbaeus Asamani

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The management of sickle cell disease requires a multidisciplinary team for better outcomes. Thus, literature on the application of the biopsychosocial model for the management and explanation of chronic pain in sickle cell disease (SCD) and other chronic diseases abound. However, there is limited research on the use of the biopsychosocial model, together with a spiritual component (biopsychosocial-spiritual model). The study investigated the extent to which healthcare providers utilized the biopsychosocial-spiritual model in the management of chronic pain to improve the quality of life (QoL) of patients with SCD. This study employed the descriptive survey design involving a consecutive sampling of 261 patients with SCD who were between the ages of 18 to 79 years and were accessing hematological services at the Clinical Genetics Department of the Korle Bu Teaching Hospital. These patients willingly consented to participate in the study by appending their signatures. The theory of integrated quality of life, the gate control theory of pain and the biopsychosocial(spiritual) model were tested. An instrument for the biopsychosocial-spiritual model was developed, with a basis from the literature reviewed, while the World Health Organisation Quality of Life BREF (WHOQoLBref) and the spirituality rating scale were adapted and used for data collection. Data were analyzed using descriptive statistics (means, standard deviations, frequencies, and percentages) and partial least square structural equation modeling. The study revealed that healthcare providers had a great leaning toward the biological domain of the model compared to the other domains. Hence, participants’ QoL was not fully improved as suggested by the biopsychosocial(spiritual) model. Again, the QoL and spirituality of patients with SCD were quite high. A significant negative impact of spirituality on QoL was also found. Finally, the biosocial domain of the biopsychosocial-spiritual model was the most significant predictor of QoL. It was recommended that policymakers train healthcare providers to integrate the psychosocial-spiritual component in health services. Also, education on SCD and its resultant impact from the domains of the model should be intensified while health practitioners consider utilizing these components fully in the management of the condition.

Keywords: biopsychosocial (spritual), sickle cell disease, quality of life, healthcare, accra

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Authors: Altayeb Abdalla Ahmed

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Skeletal phenotype is a product of a balanced interaction between genetics and environmental factors throughout different life stages. Therefore, interlimb proportions are variable between populations. Although interlimb proportion indices have been used in anthropology in assessing the influence of various environmental factors on limbs, an extensive literature review revealed that there is a paucity of published research assessing interlimb part correlations and possibility of reconstruction. Hence, this study aims to assess the relationships between upper and lower limb parts and develop regression formulae to reconstruct the parts from one another. The left upper arm length, ulnar length, wrist breadth, hand length, hand breadth, tibial length, bimalleolar breadth, foot length, and foot breadth of 376 right-handed subjects, comprising 187 males and 189 females (aged 25-35 years), were measured. Initially, the data were analyzed using basic univariate analysis and independent t-tests; then sex-specific simple and multiple linear regression models were used to estimate upper limb parts from lower limb parts and vice-versa. The results of this study indicated significant sexual dimorphism for all variables. The results indicated a significant correlation between the upper and lower limbs parts (p < 0.01). Linear and multiple (stepwise) regression equations were developed to reconstruct the limb parts in the presence of a single or multiple dimension(s) from the other limb. Multiple stepwise regression equations generated better reconstructions than simple equations. These results are significant in forensics as it can aid in identification of multiple isolated limb parts particularly during mass disasters and criminal dismemberment. Although a DNA analysis is the most reliable tool for identification, its usage has multiple limitations in undeveloped countries, e.g., cost, facility availability, and trained personnel. Furthermore, it has important implication in plastic and orthopedic reconstructive surgeries. This study is the only reported study assessing the correlation and prediction capabilities between many of the upper and lower dimensions. The present study demonstrates a significant correlation between the interlimb parts in both sexes, which indicates a possibility to reconstruction using regression equations.

Keywords: anthropometry, correlation, limb, Sudanese

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Authors: D. Maryama AG. Daud, Zuliana Bacho, Stephanie Chok, DG. Mashitah PG. Baharuddin, Mohd Hatta Tarmizi, Nathira Abdul Majeed, Helen Lasimbang

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Lifestyle, physical activity, food intake, genetics and medication are contributing factors for people getting obese. Which in some of the obese people were a low or non-responder to exercise. And obesity is very common clinical feature in women affected by Polycystic Ovarian Syndrome (PCOS). Labisia pumila var. alata (LP) is a local herb which had been widely used by Malay women in treating menstrual irregularities, painful menstruation and postpartum well-being. Therefore, this study was carried out to investigate the effect of LP with a structured exercise program on anthropometric, body composition and physical fitness performance of PCOS patients. By using a single blind and parallel study design, where by subjects were assigned into a 16-wk structured exercise program (3 times a week) interventions; (LP and exercise; LPE, and exercise only; E). All subjects in the LPE group were prescribed 200mg LP; once a day, for 16 weeks. The training heart rate (HR) was monitored based on a percentage of the maximum HR (HRmax) achieved during submaximal exercise test that was conducted at wk-0 and wk-8. The progression of aerobic exercise intensity from 25–30 min at 60 – 65% HRmax during the first week to 45 min at 75–80% HRmax by the end of this study. Anthropometric (body weight, Wt; waist circumference, WC; and hip circumference, HC), body composition (fat mass, FM; percentage body fat, %BF; Fat Free Mass, FFM) and physical fitness performance (push up to failure, PU; 1-minute Sit Up, SU; and aerobic step test, PVO2max) were measured at wk-0, wk-4, wk-8, wk-12, and wk-16. This study found that LP does not have a significant effect on body composition, anthropometric and physical fitness performance of PCOS patients underwent a structured exercise program. It means LP does not improve exercise responses of PCOS patients towards anthropometric, body composition and physical fitness performance. The overall data shows exercise responses of PCOS patients is by increasing their aerobic endurance and muscle endurance performances, there is a significant reduction in FM, PBF, HC, and Wt significantly. Therefore, exercise program for PCOS patients have to focus on aerobic fitness, and muscle endurance.

Keywords: polycystic ovarian syndrome, Labisia pumila var. alata, body composition, aerobic endurance, muscle endurance, anthropometric

Procedia PDF Downloads 174

Authors: V. Agostini, S. Gino, S. Inturri, A. Piccinini

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In cases of corpse identification or parental testing performed on exhumed alleged dead father, usually, we seek and acquire organic samples as bones and/or bone fragments, teeth, nails and muscle’s fragments. The DNA analysis of these cadaveric matrices usually leads to identifying success, but it often happens that the results of the typing are not satisfactory with highly degraded, partial or even non-interpretable genetic profiles. To aggravate the interpretative panorama deriving from the analysis of such 'classical' organic matrices, we must add a long and laborious treatment of the sample that starts from the mechanical fragmentation up to the protracted decalcification phase. These steps greatly increase the chance of sample contamination. In the present work, instead, we want to report the use of 'unusual' cadaveric matrices, demonstrating that their forensic genetics analysis can lead to better results in less time and with lower costs of reagents. We report six case reports, result of on-field experience, in which eyeswabs and cartilage were sampled and analyzed, allowing to obtain clear single genetic profiles, useful for identification purposes. In all cases we used the standard DNA tissue extraction protocols (as reported on the user manuals of the manufacturers such as QIAGEN or Invitrogen- Thermo Fisher Scientific), thus bypassing the long and difficult phases of mechanical fragmentation and decalcification of bones' samples. PCR was carried out using PowerPlex® Fusion System kit (Promega), and capillary electrophoresis was carried out on an ABI PRISM® 310 Genetic Analyzer (Applied Biosystems®), with GeneMapper ID v3.2.1 (Applied Biosystems®) software. The software Familias (version 3.1.3) was employed for kinship analysis. The genetic results achieved have proved to be much better than the analysis of bones or nails, both from the qualitative and quantitative point of view and from the point of view of costs and timing. This way, by using the standard procedure of DNA extraction from tissue, it is possible to obtain, in a shorter time and with maximum efficiency, an excellent genetic profile, which proves to be useful and can be easily decoded for later paternity tests and/or identification of human remains.

Keywords: DNA, eye swabs and cartilage, identification human remains, paternity testing

Procedia PDF Downloads 78

Authors: Arjumand Warsy

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The Holy Quran was revealed to Prophet Mohammad (May Peace and Blessings of Allah be upon Him) over fourteen hundred years ago, at a time when majority of the people in Arabia were illiterate and very few could read or write. Any knowledge about medicine, anatomy, biology, astronomy, physics, geology, geophysics or other sciences were almost non-existent. Many superstitious and groundless believes were prevalent and these believes were passed down through past generations. At that time, the Holy Quran was revealed and it presented several phenomenon that have been only currently unveiled, as scientists have worked endlessly to provide explanation for these physical and biological phenomenon applying scientific technologies. Many important discoveries were made during the 20th century and it is interesting to note that many of these discoveries were already present in the Holy Quran fourteen hundred years ago. The Scientific phenomenon, mentioned in the Holy Quran, cover many different fields in biological and physical sciences and have been the source of guidance for a number of scientists. A perfect description of the creation of the universe, the orbits in space, the development process, development of hearing process prior to sight, importance of the skin in sensing pain, uniqueness of fingerprints, role of males in selection of the sex of the baby, are just a few of the many facts present in the Quran that have astonished many scientists. The Quran in Chapter 20, verse 50 states: قَالَ رَبُّنَا الَّذِيۤ اَعْطٰى كُلَّ شَيْءٍ خَلْقَهٗ ثُمَّ هَدٰى ۰۰ (He said "Our Lord is He, Who has given a distinctive form to everything and then guided it aright”). Explaining this brief statement in the light of the modern day Molecular Genetics unveils the entire genetic basis of life and how guidance is stored in the genetic material (DNA) present in the nucleus. This thread like structure, made of only six molecules (sugar, phosphate, adenine, thymine, cytosine and guanine), is so brilliantly structured by the Creator that it holds all the information about each and every living thing, whether it is viruses, bacteria, fungi, plants, animals or humans or any other living being. This paper will present an update on some of the physical and biological phenomena’ presented in the Holy Quran, unveiled using advanced technologies during the last century and will discuss how the need to incorporate this information in the curricula.

Keywords: The Holy Quran, scientific facts, curriculum, Muslims

Procedia PDF Downloads 326

Authors: Kittitara Chunlakittiphan, Patompong Satapornpong

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Introduction: The variation of genetics affects how our body responds to pharmaceuticals elucidates the correlation between long-term use of medical cannabis and adverse drug reactions (ADRs). Medical cannabis is regarded as the treatment for chronic pain, cancer pain, acute pain, psychological disorders, multiple sclerosis and migraine management. However, previous studies have shown that delta-9-Tetrahydrocannabinol (THC), an ingredient found in cannabis, was the cause of ADRs in CB1 receptors found in humans. Previous research suggests that distributions of the cannabinoid type 1 (CB1) receptor gene and pharmacogenetic markers, which vary amongst different populations, might affect incidences of ADRs. Although there is an evident need to investigate the level of the CB1 receptor gene (rs806365), studies on the distribution of CB1-pharmacogenetics markers in Thai patients are limited. Objective: Therefore, the aim of this study is to investigate the distribution of the rs806365 polymorphism in Thai patients who have been treated with medical cannabis. Materials and Methods: We enrolled 31 Thai patients with THC-induced ADRs and 34 THC-tolerant controls to take part in this study. All patients with THC-induced ADRs were accessed through a review of medical records by physicians. EDTA blood of 3ml was collected to obtain the CNR1 gene (rs806365) and genotyping of this gene was conducted using the real-time PCR ViiA7 (ABI, Foster City, CA, USA) following the manufacturer’s instruction. Results: The sample consisted of 65 patients (40/61.54%) were females and (25/38.46%) were males, with an age range of 19-87 years, who have been treated with medical cannabis. In this study, the most common THC-induced ADRs were dry mouth and/or dry throat, tachycardia, nausea, and arrhythmia. Across the whole sample, we found that 52.31% of Thai patients carried a heterozygous variant (rs806365, CT allele). Moreover, the number of rs806365 (CC, homozygous variant) carriers totaled seventeen people (26.15%) amongst the subjects of Thai patients treated with medical cannabis. Furthermore, 17 out of 22 patients (77.27%) who experienced severe ADRs: Tachycardia and/or arrhythmia, carried an abnormal rs806365 gene (CT and CC alleles). Conclusions: The results propose that the rs806365 gene is widely distributed amongst the Thai population and there is a link between this gene and vulnerability to developing THC-induced ADRs after being treated with medical cannabis. Therefore, it is necessary to screen for the rs806365 gene before using medical cannabis to treat a patient.

Keywords: rs806365, THC-induced adverse drug reactions, CB1 receptor, Thai population

Procedia PDF Downloads 57

Authors: Chen Wang, Jared Evans, Yan Asmann

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With the quick evolvement of next-generation sequencing techniques, whole-exome or exome-panel data have become a cost-effective way for detection of small exonic mutations, but there has been a growing desire to accurately detect copy number variations (CNVs) as well. In order to address this research and clinical needs, we developed a sequencing coverage pattern-based method not only for copy number detections, data integrity checks, CNV calling, and visualization reports. The developed methodologies include complete automation to increase usability, genome content-coverage bias correction, CNV segmentation, data quality reports, and publication quality images. Automatic identification and removal of poor quality outlier samples were made automatically. Multiple experimental batches were routinely detected and further reduced for a clean subset of samples before analysis. Algorithm improvements were also made to improve somatic CNV detection as well as germline CNV detection in trio family. Additionally, a set of utilities was included to facilitate users for producing CNV plots in focused genes of interest. We demonstrate the somatic CNV enhancements by accurately detecting CNVs in whole exome-wide data from the cancer genome atlas cancer samples and a lymphoma case study with paired tumor and normal samples. We also showed our efficient reuses of existing exome sequencing data, for improved germline CNV calling in a family of the trio from the phase-III study of 1000 Genome to detect CNVs with various modes of inheritance. The performance of the developed method is evaluated by comparing CNV calling results with results from other orthogonal copy number platforms. Through our case studies, reuses of exome sequencing data for calling CNVs have several noticeable functionalities, including a better quality control for exome sequencing data, improved joint analysis with single nucleotide variant calls, and novel genomic discovery of under-utilized existing whole exome and custom exome panel data.

Keywords: bioinformatics, computational genetics, copy number variations, data reuse, exome sequencing, next generation sequencing

Procedia PDF Downloads 226

Authors: Adel Khorramrouz, Monireh Ahmadi Bani, Ehsan Norouzi

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Background:-Due to the essential role of the foot in movement, foot disorders (FDs) have significant impacts on activity and quality of life. Many studies confirmed the association between FDs and demographic characteristics. On the other hand, recent advances in data collection and statistical analysis led to an increase in the volume of databases. Analysis of patient’s data through the decision tree can be used to explore the relationship between demographic characteristics and FDs. Significance of the study: This study aimed to investigate the relationship between demographic characteristics with common FDs. The second purpose is to better inform foot intervention, we classify FDs based on demographic variables. Methodologies: We analyzed 2323 subjects with pes-planus (PP), pes-cavus (PC), hallux-valgus (HV) and plantar-fasciitis (PF) who were referred to a foot therapy clinic between 2015 and 2021. Subjects had to fulfill the following inclusion criteria: (1) weight between 14 to 150 kilogram, (2) height between 30 to 220, (3) age between 3 to 100 years old, and (4) BMI between 12 to 35. Medical archives of 2323 subjects were recorded retrospectively and all the subjects examined by an experienced physician. Age and BMI were classified into five and four groups, respectively. 80% of the data were randomly selected as training data and 20% tested. We build a decision tree model to classify FDs using demographic characteristics. Findings: Results demonstrated 981 subjects from 2323 (41.9%) of people who were referred to the clinic with FDs were diagnosed as PP, 657 (28.2%) PC, 628 (27%) HV and 213 (9%) identified with PF. The results revealed that the prevalence of PP decreased in people over 18 years of age and in children over 7 years. In adults, the prevalence depends first on BMI and then on gender. About 10% of adults and 81% of children with low BMI have PP. There is no relationship between gender and PP. PC is more dependent on age and gender. In children under 7 years, the prevalence was twice in girls (10%) than boys (5%) and in adults over 18 years slightly higher in men (62% vs 57%). HV increased with age in women and decreased in men. Aging and obesity have increased the prevalence of PF. We conclude that the accuracy of our approach is sufficient for most research applications in FDs. Conclusion:-The increased prevalence of PP in children is probably due to the formation of the arch of the foot at this age. Increasing BMI by applying high pressure on the foot can increase the prevalence of this disorder in the foot. In PC, the Increasing prevalence of PC from women to men with age may be due to genetics and innate susceptibility of men to this disorder. HV is more common in adult women, which may be due to environmental reasons such as shoes, and the prevalence of PF in obese adult women may also be due to higher foot pressure and housekeeping activities.

Keywords: decision tree, demographic characteristics, foot disorders, machine learning

Procedia PDF Downloads 222

Authors: Hanaa M. Abu El Einin, Ahmed T. Sharaf El- Din

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Biomphalaria snails play an integral role in the transmission of Schistosoma mansoni, the causative agent for human schistosomiasis. Two species of Biomphalaria were reported from Egypt, Biomphalaria alexandrina and Biomphalaria glabrata, and later on a hybrid of B. alexandrina and B. glabrata was reported in streams at Nile Delta. All were known to be excellent hosts of S. mansoni. Host-parasite relationship can be viewed in terms of snail susceptibility and parasite infectivity. The objective of this study will highlight the progress that has been made in using molecular approaches to describe the correct identification of snail species that participating in transmission of schistosomiasis, rapid diagnose of infection in addition to susceptibility and resistance type. Snails were identified using of molecular methods involving Randomly Amplified Polymorphic DNA (RAPD), Polymerase Chain Reaction, Restriction Fragment Length Polymorphisms (PCR-RFLP) and Species - specific- PCR. Molecular approaches to diagnose parasite in snails from Egypt: Nested PCR assay and small subunit (SSU) rRNA gene. Also RAPD PCR for study susceptible and resistance phenotype. The results showed that RAPD- PCR, PCR-RFLP and species-specific-PCR techniques were confirmed that: no evidence for the presence of B. glabrata in Egypt, All Biomphalaria snails collected identified as B. alexandrina snail i-e B alexandrinia is a common and no evidence for hybridization with B. glabrata. The adopted specific nested PCR assay revealed much higher sensitivity which enables the detection of S. mansoni infected snails down to 3 days post infection. Nested PCR method for detection of infected snails using S. mansoni fructose -1,6- bisphosphate aldolase (SMALDO) primer, these primers are specific only for S. mansoni and not cross reactive with other schistosomes or molluscan aldolases Nested PCR for such gene is sensitive enough to detect one cercariae. Genetic variations between B. alexandrina strains that are susceptible and resistant to Schistosoma infec¬tion using a RAPD-PCR showed that 39.8% of the examined snails collected from the field were resistant, while 60.2% of these snails showed high infection rates. In conclusion the genetics of the intermediate host plays a more important role in the epidemiological control of schistosomiasis.

Keywords: biomphalaria, molecular differentiation, parasite detection, schistosomiasis

Procedia PDF Downloads 164

Authors: Mengistu G. Woldu, Hani Y. Zaki, Areeg Faggad, Badreldin E. Abdalla

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Background: Type 2 diabetes mellitus (T2DM) is a complex, degenerative, and multi-factorial disease, which is culpable for huge mortality and morbidity worldwide. Even though relatively significant numbers of studies are conducted on the genetics domain of this disease in the developed world, there is huge information gap in the sub-Saharan Africa region in general and in Eritrea in particular. Objective: The principal aim of this study was to investigate the association of common variants of the Insulin Receptor Substrate 1 (IRS1) and Transcription Factor 7-Like 2 (TCF7L2) genes with T2DM in the Eritrean population. Method: In this cross-sectional case control study 200 T2DM patients and 112 non-diabetes subjects were participated and genotyping of the IRS1 (rs13431179, rs16822615, 16822644rs, rs1801123) and TCF7L2 (rs7092484) tag SNPs were carries out using PCR-RFLP method of analysis. Haplotype analyses were carried out using Plink version 1.07, and Haploview 4.2 software. Linkage disequilibrium (LD), and Hardy-Weinberg equilibrium (HWE) analyses were performed using the Plink software. All descriptive statistical data analyses were carried out using SPSS (Version-20) software. Throughout the analysis p-value ≤0.05 was considered statistically significant. Result: Significant association was found between rs13431179 SNP of the IRS1 gene and T2DM under the recessive model of inheritance (OR=9.00, 95%CI=1.17-69.07, p=0.035), and marginally significant association found in the genotypic model (OR=7.50, 95%CI=0.94-60.06, p=0.058). The rs7092484 SNP of the TCF7L2 gene also showed markedly significant association with T2DM in the recessive (OR=3.61, 95%CI=1.70-7.67, p=0.001); and allelic (OR=1.80, 95%CI=1.23-2.62, p=0.002) models. Moreover, eight haplotypes of the IRS1 gene found to have significant association withT2DM (p=0.013 to 0.049). Assessments made on the interactions of genotypes of the rs13431179 and rs7092484 SNPs with various parameters demonstrated that high density lipoprotein (HDL), low density lipoprotein (LDL), waist circumference (WC), and systolic blood pressure (SBP) are the best T2DM onset predicting models. Furthermore, genotypes of the rs7092484 SNP showed significant association with various atherogenic indexes (Atherogenic index of plasma, LDL/HDL, and CHLO/HDL); and Eritreans carrying the GG or GA genotypes were predicted to be more susceptible to cardiovascular diseases onset. Conclusions: Results of this study suggest that IRS1 (rs13431179) and TCF7L2 (rs7092484) gene polymorphisms are associated with increased risk of T2DM in Eritreans.

Keywords: IRS1, SNP, TCF7L2, type 2 diabetes

Procedia PDF Downloads 189

Authors: Mohammad Khatib, Salam Hadid

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Introduction: Developing nurses' cultural competence begins in their basic training and requires them to participate in an array of activities which raise their awareness and stimulate their interest, desire and curiosity about different cultures, by creating opportunities for intercultural meetings promoting the concept of 'culture' and its components, including recognition of cultural diversity and the legitimacy of the other. Importantly, professionals need to acquire specific cultural knowledge and thorough understanding of the values, norms, customs, beliefs and symbols of different cultures. Similarly, they need to be given opportunities to practice the verbal and non-verbal communication skills of other cultures according to their cultural codes. Such a system is being implemented as part of nursing studies at Zefat Academic College in two study frameworks; firstly, a course integrating nursing theory and practice in multicultural nursing; secondly, a course in learning the languages spoken in Israel focusing on medical and nursing terminology. Methods: Students participating in the 'Transcultural Nursing' course come from a variety of backgrounds: Jews, or Arabs, religious, or secular; Muslim, Christian, new immigrants, Ethiopians or from other cultural affiliations. They are required to present and discuss cultural practices that affect health. In addition, as part of the language course, students learn and teach their friends 5 spoken languages (Arabic, Russian, Amharian, Yidish, and Sign language) focusing on therapeutic interaction and communication using the vocabulary and concepts necessary for the therapeutic encounter. An evaluation of the process and the results was done using a structured questionnaire which includes series of questions relating to the contributions of the courses to their cultural knowledge, awareness and skills. 155 students completed the questionnaire. Results: A preliminary assessment of this educational system points an increase in cultural awareness and knowledge among the students as well as in their willingness to recognize the other's difference. A positive atmosphere of multiculturalism is reflected in students' mutual interest and respect was created. Students showed a deep understanding of cultural issues relating to health and care (consanguinity and genetics, food customs; cultural events, reincarnation, traditional treatments etc.). Most of the students were willing to recommend the courses to others and suggest some changes relating learning methods (more simulations, role playing and activities).

Keywords: cultural competence, nursing education, culture, language

Procedia PDF Downloads 242

Authors: Michal Pravenec, Miroslava Simakova, Jan Silhavy

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Brown adipose tissue (BAT) plays an important role in lipid and glucose metabolism in rodents and possibly also in humans. Recently, using systems genetics approach in the BAT from BXH/HXB recombinant inbred strains, derived from the SHR (spontaneously hypertensive rat) and BN (Brown Norway) progenitors, we identified Cd36 (fatty acid translocase) as the hub gene of co-expression module associated with BAT relative weight and function. An important aspect of BAT biology is to better understand the mechanisms regulating the uptake and utilization of fatty acids and glucose. Accordingly, BAT function in the SHR that harbors mutant nonfunctional Cd36 variant (hereafter referred to as SHR-Cd36⁻/⁻) was compared with SHR transgenic line expressing wild type Cd36 under control of a universal promoter (hereafter referred to as SHR-Cd36⁺/⁺). BAT was incubated in media containing insulin and 14C-U-glucose alone or 14C-U-glucose together with palmitate. Incorporation of glucose into BAT lipids was significantly higher in SHR-Cd36⁺/⁺ versus SHR-Cd36⁻/⁻ rats when incubation media contained glucose alone (SHR-Cd36⁻/⁻ 591 ± 75 vs. SHR-Cd36⁺/⁺ 1036 ± 135 nmol/gl./2h; P < 0.005). Adding palmitate into incubation media had no effect in SHR-Cd36⁻/⁻ rats but significantly reduced glucose incorporation into BAT lipids in SHR-Cd36⁺/⁺ (SHR-Cd36⁻/⁻ 543 ± 55 vs. SHR-Cd36⁺/⁺ 766 ± 75 nmol/gl./2h; P < 0.05 denotes significant Cd36 x palmitate interaction determined by two-way ANOVA). This Cd36-dependent reduced glucose uptake in SHR-Cd36⁺/⁺ BAT was likely secondary to increased palmitate incorporation and utilization due to the presence of wild type Cd36 fatty acid translocase in transgenic rats. This possibility is supported by increased incorporation of 14C-U-palmitate into BAT lipids in the presence of both palmitate and glucose in incubation media (palmitate alone: SHR-Cd36⁻/⁻ 870 ± 21 vs. SHR-Cd36⁺/⁺ 899 ± 42; glucose+palmitate: SHR-Cd36⁻/⁻ 899 ± 47 vs. SHR-Cd36⁺/⁺ 1460 ± 111 nmol/palm./2h; P < 0.05 denotes significant Cd36 x glucose interaction determined by two-way ANOVA). It is possible that addition of glucose into the incubation media increased palmitate incorporation into BAT lipids in SHR-Cd36⁺/⁺ rats because of glucose availability for glycerol phosphate production and increased triglyceride synthesis. These changes in glucose and palmitate incorporation into BAT lipids were associated with significant differential expression of Irs1, Irs2, Slc2a4 and Foxo1 genes involved in insulin signaling and glucose metabolism only in SHR-Cd36⁺/⁺ rats which suggests Cd36-dependent effects on insulin action. In conclusion, these results provide compelling evidence that Cd36 plays an important role in BAT insulin signaling and energy substrate utilization.

Keywords: brown adipose tissue, Cd36, energy substrate utilization, insulin signaling, spontaneously hypertensive rat

Procedia PDF Downloads 107

Authors: Ratneev Kaur, Tajinder Kaur, Anupam Kaur

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Introduction: Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder of endocrine system among women of reproductive age. PCOS is characterized by hyperandrogenism, anovulation, polycystic ovaries, hirsutism, obesity, and hyperinsulinemia. Several pathways are implicated in its etiology including the metabolic pathway of steroid hormone synthesis regulatory pathways. PCOS is an androgen excess disorder, genes operating in steroidogenesis may alter pathogenesis of PCOS. The cytochrome P450scc is a cholesterol side chain cleavage enzyme coded by CYP11A1 gene and catalyzes conversion of cholesterol to pregnenolone, the initial and rate-limiting step in steroid hormone synthesis. It is postulated that polymorphisms in this gene may play an important role in the regulation of CYP11A1 expression and leading to increased or decreased androgen production. The present study will be the first study from north India to best of our knowledge, to analyse the association of CYP11A1 (rs11632698) polymorphism in women suffering from PCOS. Methodology: The present study was approved by ethical committee of Guru Nanak Dev University in consistent with declaration of Helsinki. A total of 300 samples (150 PCOS cases and 150 controls) were recruited from Hartej hospital, for the present study. Venous blood sample (3ml) was withdrawn from women diagnosed with PCOS by doctor, according to Rotterdam 2003 criteria and from healthy age matched controls only after informed consent and detailed filled proforma. For molecular genetics analysis, blood was stored in EDTA vials. After DNA isolation by organic method, PCR-RFLP approach was used for genotyping and association analysis of rs11632698 polymorphism. Statistical analysis was done to check for significance of selected polymorphism with PCOS. Results: In 150 PCOS cases, the frequency of AA, AG and GG genotype was found to be 48%, 35%, and 13% compared to 62%, 27% and 8% in 150 controls. The major allele (A) and minor allele (G) frequency was 68% and 32% in cases and 78% and 22% in controls. Minor allele frequency was higher in cases as compared to controls, as well as the distribution of genotype was observed to be statistically significant (ᵡ²=6.525, p=0.038). Odds ratio in dominant, co-dominant and recessive models observed was 1.81 (p=0.013), 1.54 (p=0.012) and 1.77 (p=0.132) respectively. Conclusion: The present study showed statistically significant association of rs11632698 with PCOS (p=0.038) in North Indian women.

Keywords: polycystic ovary syndrome, CYP11A1, rs11632698, hyperandrogenism

Procedia PDF Downloads 97

Authors: Ante Turudic, Filip Varga, Zlatko Liber, Jernej Jakse, Zlatko Satovic, Ivan Radosavljevic, Martina Grdisa

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Microsatellites (SSRs) are highly informative repetitive sequences of 2-6 base pairs, which are the most used molecular markers in assessing the genetic diversity of plant species. Dalmatian pyrethrum (Tanacetum cinerariifolium /Trevir./ Sch. Bip) is an outcrossing diploid (2n = 18) endemic to the eastern Adriatic coast and source of the natural insecticide pyrethrin. Due to the high repetitiveness and large size of the genome (haploid genome size of 9,58 pg), previous attempts to develop microsatellite markers using the standard methods were unsuccessful. A next-generation sequencing (NGS) approach was applied on genomic DNA extracted from fresh leaves of Dalmatian pyrethrum. The sequencing was conducted using NovaSeq6000 Illumina sequencer, after which almost 400 million high-quality paired-end reads were obtained, with a read length of 150 base pairs. Short reads were assembled by combining two approaches; (1) de-novo assembly and (2) joining of overlapped pair-end reads. In total, 6.909.675 contigs were obtained, with the contig average length of 249 base pairs. Of the resulting contigs, 31.380 contained one or multiple microsatellite sequences, in total 35.556 microsatellite loci were identified. Out of detected microsatellites, dinucleotide repeats were the most frequent, accounting for more than half of all microsatellites identifies (21,212; 59.7%), followed by trinucleotide repeats (9,204; 25.9%). Tetra-, penta- and hexanucleotides had similar frequency of 1,822 (5.1%), 1,472 (4.1%), and 1,846 (5.2%), respectively. Contigs containing microsatellites were further filtered by SSR pattern type, transposon occurrences, assembly characteristics, GC content, and the number of occurrences against the draft genome of T. cinerariifolium published previously. After the selection process, 50 microsatellite loci were used for primer design. Designed primers were tested on samples from five distinct populations, and 25 of them showed a high degree of polymorphism. The selected loci were then genotyped on 20 samples belonging to one population resulting in 17 microsatellite markers. Availability of codominant SSR markers will significantly improve the knowledge on population genetic diversity and structure as well as complex genetics and biochemistry of this species. Acknowledgment: This work has been fully supported by the Croatian Science Foundation under the project ‘Genetic background of Dalmatian pyrethrum (Tanacetum cinerariifolium /Trevir/ Sch. Bip.) insecticidal potential’ - (PyrDiv) (IP-06-2016-9034).

Keywords: genome assembly, NGS, SSR, Tanacetum cinerariifolium

Procedia PDF Downloads 96