Search results for: genome-wide association studies (GWAS)

Authors: Nidesh Sapkota, Garima Pudasaini, Dikshya Agrawal, Binav Baral, Umesh Bhagat, Dharanidhar Baral

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Background: Medical and Dental students are vulnerable to higher levels of Psychological distress than other age matched peers. Many studies reveals that there is high prevalence of psychoactive substance use and Psychiatric co-morbidities among them. Objectives: -To study the prevalence of substance use among medical and dental students of a Medical University. -To study the prevalence of depression and anxiety in medical and dental students of a Medical University. Materials and Method: A cross-sectional descriptive study in which simple random sampling was done. Semi-structured questionnaire, AUDIT for alcohol use, Fagerstrom test for Nicotine dependence, Cannabis screening test (CAST), Beck’s Depression Inventory (BDI), Beck’s Anxiety Inventory (BAI) were used for the assessment. Results: Total sample size was 588 in which the mean age of participants was 22±2years. Among them the prevalence of alcohol users was 47.75%(281) in which 32%(90) were harmful users. Among 19.55%(115) nicotine users 56.5%(65), 37.4%(43), 6.1%(7) had low, low to moderate and moderate dependence respectively. The prevalence of cannabis users was 9%(53) with 45.3%(24), 18.9%(10) having low and high addiction respectively. Depressive symptoms were recorded in 25.3%(149) out of which 12.6%(74), 6.5%(38), 5.3%(31), 0.5%(3), 0.5%(3) had mild, borderline, moderate, severe and extreme depressive symptoms respectively. Similarly anxiety was recorded among 7.8%(46) students with 42 having moderate and 4 having severe anxiety symptoms. Among them 6.3%(37) had suicidal thoughts and 4(0.7%) of them had suicide attempt in last one year. Statistically significant association was noted with harmful alcohol users, Depression and suicidal attempts. Similar association was noted between Depression and suicide with moderate use of nicotine. Conclusion: There is high prevalence of Psychoactive substance use and psychiatric co-morbidities noted in the studies sample. Statistically significant association was noted with Psychiatric co-morbidities and substance use.

Keywords: alcohol, cannabis, dependence, depression, medical students

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Authors: Rania A. R. Soudan, Easter Joury

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Introduction: Psoriasis is a common chronic dermatologic disease. It may affect the mucous membranes. The presence of oral mucosal lesions has been a subject of controversy. The aim: To determine possible association between oral mucosal lesions and psoriasis, and to correlate the same with different types of psoriasis and severity of the disease. Materials and Methods: The oral mucosa was clinically examined in 100 randomly selected Syrian psoriatic patients presented to the Dermatological Diseases Hospital in Damascus University, Syria (February 2009 - December 2010), and in 100 matched controls. PASI index was used to evaluate the disease severity. Chi-square and Student t-test were used to compare differences between groups. Results: Oral mucosal lesions were observed in 72% of the psoriasis cases, while 46% of the control group’s subjects had oral lesions. Fissured tongue, geographic tongue, and red lesions were detected in 36%, 25%, and 7% of the examined psoriatics, respectively. These lesions were significantly more frequent in the psoriatics than in the controls. A correlation was found between furred tongue and the age of the psoriasis patients. However, an association was observed for fissured tongue, furred tongue with the severity of the disease, and for fissured tongue, white lesions, cheilitis with nail involvement. However, no correlation with the psoriasis types was recorded. Conclusion: Some oral mucosal lesions were associated with psoriasis, so these lesions may be considered as oral manifestations of this disease, and should be taken into account in new studies as possible predictors or markers of this dermatitis. Further studies are recommended to confirm these oral manifestations.

Keywords: psoriasis, tongue, mucosa, lesions

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Authors: Khadidja Belbachir, Hafida Belbachir

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subsequently the expansion of the physical supports storage and the needs ceaseless to accumulate several data, the sequential algorithms of associations’ rules research proved to be ineffective. Thus the introduction of the new parallel versions is imperative. We propose in this paper, a parallel version of a sequential algorithm “Partition”. This last is fundamentally different from the other sequential algorithms, because it scans the data base only twice to generate the significant association rules. By consequence, the parallel approach does not require much communication between the sites. The proposed approach was implemented for an experimental study. The obtained results, shows a great reduction in execution time compared to the sequential version and Count Distributed algorithm.

Keywords: association rules, distributed data mining, partition, parallel algorithms

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Authors: Ferreira R., Rocha K.

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Ozone therapy is indicated for improving skin aesthetics, adjusting oxidative tissue levels, increasing collagen production, and even skin volumizing. This paper aims to carry out a case report that demonstrates the positive results of ozone therapy in association with superficial peeling. The application in association showed positive results for bio-stimulating activities in the reported case demonstrating to be a viable clinical technique. The bio-stimulating effect of ozone therapy in association with peeling is a promising aesthetic therapeutic modality with fast and safe results as an aesthetic therapeutic option.

Keywords: bio-stimulating effect, ozone therapy, neocollagenesis, peeling

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Authors: Patricia M. B. Saint-Vincent, Anna Furches, Stephanie Galanie, Erica Teixeira Prates, Piet Jones, Nancy Engle, David Kainer, Wellington Muchero, Daniel Jacobson, Timothy J. Tschaplinski

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Uridine diphosphate-glycosyltransferases (UGTs) are enzymes that catalyze sugar transfer to a variety of plant metabolites. UGT substrates, which include plant secondary metabolites involved in lignification, demonstrate new activities and incorporation when glycosylated. Knowledge of UGT function, substrate specificity, and enzyme products is important for plant engineering efforts, especially related to increasing plant biomass through lignification. UGTs in Populus trichocarpa, a biofuel feedstock, and model woody plant, were selected from a pool of gene candidates using rapid prioritization strategies. A functional genomics workflow, consisting of a metabolite genome-wide association study (mGWAS), expression of synthetic codon-optimized genes, and high-throughput biochemical assays with mass spectrometry-based analysis, was developed for determining the substrates and products of previously-uncharacterized enzymes. A total of 40 UGTs from P. trichocarpa were profiled, and the biochemical assay results were compared to predicted mGWAS connections. Assay results confirmed seven of 11 leaf mGWAS associations and demonstrated varying levels of substrate specificity among candidate UGTs. P. trichocarpa UGT substrate processing confirms the role of these newly-characterized enzymes in lignan, flavonoid, and phytohormone metabolism, with potential implications for cell wall biosynthesis, nitrogen uptake, and biotic and abiotic stress responses.

Keywords: Populus, metabolite-gene associations, GWAS, bio feedstocks, glycosyltransferase

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Authors: Sangdeok Lee, Sangwon Han, Changtaek Hyun

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Construction defects are major components that result in negative impacts on project performance including schedule delays and cost overruns. Since construction defects generally occur when a few associated causes combine, a thorough understanding of defect causality is required in order to more systematically prevent construction defects. To address this issue, this paper uses association rule mining (ARM) to quantify the causality between defect causes, and social network analysis (SNA) to find indirect causality among them. The suggested approach is validated with 350 defect instances from concrete works in 32 projects in Korea. The results show that the interrelationships revealed by the approach reflect the characteristics of the concrete task and the important causes that should be prevented.

Keywords: causality, defect causes, social network analysis, association rule mining

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Authors: Elham Sharif, Nasser Rizk, Sirin Abu Aqel, Ofelia Masoud

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Background: Previous studies have investigated the association of rs1544410, rs7975232 and rs731236 polymorphisms in vitamin D receptor gene and its impact on diseases such as cancer, diabetes and hypertension in different ethnic backgrounds. Aim: The aim of this study is to investigate the association between VDR polymorphisms using three SNP’s (rs1544410, rs7975232 and rs731236) and the severity of the significant lesion in coronary arteries among angiographically diagnosed CAD. Methods: A prospective-retrospective study was conducted on 192 CAD patients enrolled from the cardiology department-Heart Hospital HMC, grouped in 96 subjects with significant stenosis and 96 with non-significant stenosis with a mean age between 30 and 75 years old. Genotyping was performed for the following SNPs rs1544410, rs7975232 and rs731236 using TaqMan assay by the Real Time PCR, ABI 7500 in Health Sciences Labs at Qatar University Biomedical Research Center. Results: The results showed that both groups have matched age and gender distribution but patients with the significant stenosis have significantly higher; BMI (p=0.047); smoking status (p=0.039); FBS (p= 0.031); CK-MB (p=0.025) and Troponin (p=0.002) than the patients with non–significant lesion. Among the traditional risk factors, smoking increases the odds of the severe stenotic lesion in CAD patients by 1.984, with 95% CI between 1.024 – 7.063, with p= 0.042.HWE showed deviations of the rs1544410 and rs731236 among the study subjects. The most frequent genotype in distribution of rs7975232 is the AA among the significant stenosis patients, while the heterozygous AC was the frequent genotype in distribution among the non-significant stenosis group. The carriers of CC genotype in rs7975232 increased the risk of having significant coronary arteries stenotic lesion by 1.83 with 95% CI (1.020 – 3.280), p=0.043. No association was found between the rs7975232 with vitamin D and VDBP. Conclusion: There is a significant association between rs7975232 and the severity of CAD lesion. The carrier of CC genotype in rs7975232 increased the risk of having significant coronary arteries atherosclerotic lesion especially in patients with smoking history independent of vitamin D.

Keywords: vitamin D, vitamin D receptor, polymorphism, coronary harat disease

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Authors: Anida Causevic-Ramosevac, Sabina Semiz

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

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

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Authors: Isabella Lobo Sasaoka, Felipe Q. da Luz, Zubeyir Salis, Phillipa Hay, Tamiris Gaeta, Paula Costa Teixeira, Táki Cordás, Amanda Sainsbury

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Background: A significant number of people with obesity that seek weight loss treatments experience binge eating episodes. Nonetheless, it is unknown whether binge eating episodes can hinder weight loss outcomes. Objective: To compare weight change in people with or without binge eating submitted to bariatric surgery, pharmacotherapy, nutritional orientation, and/or psychological therapies. Method: We conducted a systematic review with meta-analyses by searching studies in PubMed, American Psychological Association (APA), and Embase. Results: Thirty-four studies were included in our systematic review, and 17 studies were included in the meta-analyses. Overall, we found no significant difference in weight loss between people with or without binge eating submitted to any type of weight loss treatment. Additionally, we found no statistically significant differences in body weight between people with or without binge eating at short and long follow-up assessments following any type of weight loss treatment. We also examined changes in body weight in people with or without binge eating in three additional meta-analyses categorized by the type of weight loss treatment (i.e., behavioural and/or nutritional interventions; bariatric surgery; pharmacotherapy isolated or combined with behavior interventions) and found no difference in weight loss. Eleven out of the 17 studies that were assessed qualitatively (i.e., not included in meta-analyses) did not show differences in weight loss in people with or without binge eating submitted to any type of weight loss treatment. Conclusion: This systematic review with meta-analyses showed no difference in weight loss in people with or without binge eating submitted to a variety of weight loss treatments. Nonetheless, specialized therapies can be required to address eating disorder psychopathology and recurrent binge eating in people with obesity that seek weight loss.

Keywords: obesity, binge eating, weight loss, systematic review, meta-analysis

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Authors: Ke Qiu, Minzi Mao, Jianjun Ren, Yu Zhao

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Although much has been done to investigate the influence of obstructive sleep apnea (OSA) on cognitive function, little attention has been paid to the role which gender differences play in this association. In the present study, we aim to explore the gender-specific association between OSA and cognitive impairment. Participants from UK biobank who have completed at least one of the five baseline cognitive tests (visuospatial memory, prospective memory, fluid intelligence, short numeric memory and reaction time) were included and were further categorized into three groups: (1) OSA, (2) self-reported snoring but without OSA, and (3) healthy controls (without OSA or snoring). Multivariable regression analysis was performed to examine the associations among snoring, OSA and performance of each of the five cognitive domains. A total of 267,889 participants (47% male, mean age: 57 years old) were included in our study. In the multivariable regression analysis, female participants in the OSA group had a higher risk of having poor prospective memory (OR: 1.24, 95% CI: 1.02～1.50, p = 0.03). Meanwhile, among female participants, OSA were inversely associated with the performances of fluid intelligence (β: -0.29, 95% CI: -0.46～-0.13, p < 0.001) and short-numeric memory (β: -0.14, 95% CI: -0.35～0.08, p = 0.02). In contrast, among male participants, no significant association was observed between OSA and impairment of the five cognitive domains. Overall, OSA was significantly associated with cognitive impairment in female participants rather than in male participants, indicating that more special attention and timely interventions should be given to female OSA patients to prevent further cognitive impairment.

Keywords: obstructive sleep apnea (OSA), cognitive impairment, gender-specific association, UK biobank

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

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

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

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Authors: Seyed Mazyar Mortazavi, Masod Memari, Hasan Ali Ahmadi, Zhaleh Abed

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Introduction: VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. Case presentation: The first case was 1-day old male neonate with multiple congenital anomalies was bore from 28 years old mother. The mother had history of pregnancy with lymphocyte therapy. His anomalies included: defects in thoracic and lumbar vertebral, anal atresia, bilateral hydronephrosis, atrial septal defect, and lower limb abnormality. Other anomalies were cryptorchidism and nasal canal narrowing. The second case was born with 32 weeks gestational age from mother with history of pregnancy with lymphocyte therapy. He had thoracic vertebral defect, cardiac anomalies and renal defect. Conclusion: diagnosis based on clinical finding is VACTERL association. Early diagnosis is very important to investigation and treatment of other coexistence anomalies. VACTERL association in mothers with history of pregnancy with lymphocyte therapy has suggested possibly of relationship between VACTERL association and this method of pregnancy.

Keywords: anal atresia, tracheo-esophageal fistula, atrial septal defect, lymphocyte therapy

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Authors: Cátia Regina Branco da Fonseca, Maria Wany Louzada Strufaldi, Lídia Raquel de Carvalho, Rosana Fiorini Puccini

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Background: Birth weight reflects gestational conditions and development during the fetal period. Low birth weight (LBW) may be associated with antenatal care (ANC) adequacy and quality. The purpose of this study was to analyze ANC adequacy and its relationship with LBW in the Unified Health System in Brazil. Methods: A case-control study was conducted in Botucatu, São Paulo, Brazil, 2004 to 2008. Data were collected from secondary sources (the Live Birth Certificate), and primary sources (the official medical records of pregnant women). The study population consisted of two groups, each with 860 newborns. The case group comprised newborns weighing less than 2,500 grams, while the control group comprised live newborns weighing greater than or equal to 2,500 grams. Adequacy of ANC was evaluated according to three measurements: 1. Adequacy of the number of ANC visits adjusted to gestational age; 2. Modified Kessner Index; and 3. Adequacy of ANC laboratory studies and exams summary measure according to parameters defined by the Ministry of Health in the Program for Prenatal and Birth Care Humanization. Results: Analyses revealed that LBW was associated with the number of ANC visits adjusted to gestational age (OR = 1.78, 95% CI 1.32-2.34) and the ANC laboratory studies and exams summary measure (OR = 4.13, 95% CI 1.36-12.51). According to the modified Kessner Index, 64.4% of antenatal visits in the LBW group were adequate, with no differences between groups. Conclusions: Our data corroborate the association between inadequate number of ANC visits, laboratory studies and exams, and increased risk of LBW newborns. No association was found between the modified Kessner Index as a measure of adequacy of ANC and LBW. This finding reveals the low indices of coverage for basic actions already well regulated in the Health System in Brazil. Despite the association found in the study, we cannot conclude that LBW would be prevented only by an adequate ANC, as LBW is associated with factors of complex and multifactorial etiology. The results could be used to plan monitoring measures and evaluate programs of health care assistance during pregnancy, at delivery and to newborns, focusing on reduced LBW rates.

Keywords: low birth weight, antenatal care, prenatal care, adequacy of health care, health evaluation, public health system

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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

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Authors: Ghaleb Bin Huraib, Fahad Al Harthi, Mohammad Mustafa, Abdulrahman Al-Asmari

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Introduction: Vitiligo is an acquired pigmentary skin disorder with the regional disappearance of melanocytes. Vitiligo affects 0.1 to 2% of the global population, and the incidence varies substantially depending on ethnicity. Glutathione S-transferase (GST) is a multigene family of enzymes that detoxify oxidative stress products. The oxidative stress-related GSTM1/GSTT1 genes deletion may cause epidermal melanocytes destruction and the development of vitiligo. Hence, the present study aimed to investigate the association of GST gene polymorphisms with vitiligo in the Saudi population, if any. Materials and Methods: The present study includes 129 vitiligo cases and 130 age-matched healthy controls. The proportion of male and female patients with vitiligo is almost equal. The multiplex polymerase chain reaction (PCR) method was used for polymorphic analysis. Results: Increased odds of generalized vitiligo was observed with the null genotypes of GSTT1- gene (OR = 1.91, 95% CI = 1.07-3.42, p = 0.019). The possible genetic combinations of GSTM1/GSTT1 and their genotypic distribution showed the frequency of GSTM1+/GSTT1+ 62/130 (47.69%) and GSTM1-/GSTT1+ 52/130 (40.00%) were higher in controls than in cases 44/129 (34.11%), 43/129 (33.34%), respectively while GSTM1+/GSTT1- and GSTM1-/GSTT1- null genotypes were higher 22/129 (17.05%) and 20/129 (15.50%) in vitiligo patients as compared to controls 11/130 (8.46%), 5/130 (3.84%), respectively. The strength of association of different genetic combinations with cases have shown GSTM1+/GSTT1- (OR = 2.81, 95% CI = 1.24-6.40, p = 0.009) and GSTM1-/GSTT1- (OR = 5.63, 95% CI = 1.96 - 16.16, p = 0.0004) were significantly higher in vitiligo cases as compared to controls. We did not observe any significant association of age and gender of patients with GST gene polymorphisms. Conclusions: The GSTT1-, GSTM1+/GSTT1- and GSTM1-/GSTT1- null genotypes were significantly associated with vitiligo. These genetic polymorphisms may be the associative genetic risk factor for vitiligo among Saudis. It could be used as a genetic marker for screening vitiligo patients among Saudis. Further studies on GSTs gene polymorphism in larger sample sizes from different geographical areas and ethnicity are needed to strengthen the present findings.

Keywords: vitiligo, GSTM1, GSTT1, gene polymorphism, oxidative stress

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Authors: Amir Ghasemlouei, Alireza Khalaj

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In women, cancer of the breast is one of the most common incident cancer and cause of death from cancer .we reviewed the prevalence of obesity and its association with breast cancer. In this study, a total of 25 articles regarding the subject matter of the article have been presented in which 640 patients were examined that 320 patients with breast cancer and 320 were controls. The distribution of breast cancer patients and controls with respect to their anthropometric indices in patients with higher weight, which was statistically significant (60.2 ± 10.2 kg) compared with control group (56.1 ± 11.3 kg). The body mass index of patients was (26.06+/-3.42) and significantly higher than the control group (24.1+/-1.7). Obesity leads to increased levels of adipose tissue in the body that can be stored toxins and carcinogens to produce a continuous supply. Due to the high level of fat and the role of estrogen in a woman is endogenous estrogen of the tumor and regulate the activities of growth steroids, obesity is a risk factor for breast cancer is confirmed. Our study and other studies show that obesity is a risk factor for breast cancer. And with a weight loss intervention for breast cancer can be prevented in the future.

Keywords: breast cancer, review study, obesity, overweight

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Authors: Daphine Namara, Jeremy I. Schwartz, Andrew K. Tusubira, Willi McFarland, Caroline Birungi, Fred C. Semitala, Martin Muddu

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Emerging evidence suggests a possible association between hyperglycemia and dolutegravir (DTG), a preferred first-line antiretroviral agent in sub-Saharan Africa (SSA). There is a need for rigorous studies to validate this association in the face of increasing DTG use and the burden of non-communicable diseases among people living with HIV (PLHIV). We conducted a case-control study to assess the risk of hyperglycemia associated with the use of DTG among PLHIV attending Mulago ISS Clinic in Kampala. Cases had hyperglycemia, while controls had no hyperglycemia, as confirmed by fasting plasma glucose and oral glucose tolerance tests. Demographic, laboratory, and clinical data were collected using interviewer-administered questionnaires and medical record abstraction. The analysis compared cases and controls on DTG use prior to diagnosis of hyperglycemia while controlling for potential confounders using multivariable logistic regression. We included 204 cases and 231 controls. In multivariable analysis, patients with prior DTG use had seven times greater odds of subsequent diagnosis of hyperglycemia compared to those who had non-DTG-based regimens (adjusted odds ratio [aOR] 7.01, 95% CI 1.96-25.09). The odds of hyperglycemia also increased with age (56 years and above vs. 18-35, aOR 12.38, 95% CI 3.79-40.50) and hypertension (aOR 5.78, 95% CI 2.53-13.21). Our study demonstrates a strong association between prior DTG exposure and subsequent diagnosis of hyperglycemia. Given the benefits of DTG, wide-scale use, and the growing burden of diabetes mellitus (DM) in SSA, there is a need for systematic screening for hyperglycemia and consideration of alternate regimens for those at risk for DM.

Keywords: HIV, hyperglycemia, doluteravir, diabetes

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Authors: Asma Naseer Cheema, Attya Bhatti, Jabar Ali, John Peter

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Background: High cholesterol levels, endothelial dysfunction, inefficient coagulation cascade and hyper inflammatory response all are the basis of coronary artery disease (CAD). Several studies are carried out to see the genetic influence of these factors on disease outcome. Objective: The objective of our study was to see the association of 10 putative loci with coronary artery disease in our population. Materials & Methods: We screened our population for 10 putative loci of CAD showing significant association (p < 5x10-8) with candidate genes (regulating the cholesterol metabolism, endothelial function, coagulation cascade and inflammatory response of body). Hardy-Weinberg equilibrium and linkage disequilibrium in cases and controls s were estimated separately. Approximately 5-10 ng of dried DNA in 384 well plate format was used to genotype each sample on the Sequenom iPLEX assay at University of Pittsburgh Genomics and Proteomics Core Laboratories. It was built on single-base primer extension with the MALDI-TOF MS detection possessing high sensitivity and specificity. The SNPs were genotyped through Taqman assay. Hardy Weinberg test was applied. The 10 SNPs were selected as genetic markers for this study (rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650). Results: Mean age of the patient was 52 ± 11 years. Blood pressure and positive family history was found a significant risk factor for CAD. None of the selected SNPs showed significant association with coronary artery disease in our population (p>0.05). Conclusion: rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650 are not significant genetic markers for CAD in our population.

Keywords: CAD, genetic markers, loci, risk factors

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Authors: Murniwati, Nurul Khairiyah, Putri Ovieza Maizar

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The association between general and oral health is clearly important, particularly in adults with medical conditions. Many of the medical systemic conditions are either caused or aggravated by poor oral hygiene and vice versa. Hypertension is one of common medical systemic problem which has been a public health concern worldwide due to its known consequences. Those consequences must be related to oral health status as well, whether it may cause or worsen the oral health conditions. The objective of this study was to find out the association between hypertension and oral health status in adults. This study was an analytical observational study by using cross-sectional method. A total of 42 adults both male and female in Padusunan Village, Pariaman, West Sumatra, Indonesia were selected as subjects by using purposive sampling. Manual sphygmomanometer was used to measure blood pressure and dental examination was performed to calculate the decayed, missing, and filled teeth (DMFT) scores in order to represent oral health status. The data obtained was analyzed statistically using One Way ANOVA to determine the association between hypertensive adults and their oral health status. The result showed that majority age of the subjects was ranging from 51-70 years (40.5%). Based on blood pressure examination, 57.1% of subjects were classified to prehypertension. Overall, the mean of DMFT score calculated in normal, prehypertension and hypertension group was not considered statistically significant. There was no significant association (p>0.05) between hypertension and oral health status in adults.

Keywords: blood pressure, hypertension, DMFT, oral health status

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Authors: Najeeb Ullah Khan

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

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

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Authors: Rizka Aisha Rahmi Hariadi, Chao Ou-Yang, Han-Cheng Wang, Rajesri Govindaraju

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As the increasing of medical check-up popularity, there are a huge number of medical check-up data stored in database and have not been useful. These data actually can be very useful for future strategic planning if we mine it correctly. In other side, a lot of patients come with unpredictable coming and also limited available facilities make medical check-up service offered by hospital not maximal. To solve that problem, this study used those medical check-up data to predict patient re-coming. Sequential pattern mining (SPM) and association rules method were chosen because these methods are suitable for predicting patient re-coming using sequential data. First, based on patient personal information the data was grouped into … groups then discriminant analysis was done to check significant of the grouping. Second, for each group some frequent patterns were generated using SPM method. Third, based on frequent patterns of each group, pairs of variable can be extracted using association rules to get general pattern of re-coming patient. Last, discussion and conclusion was done to give some implications of the results.

Keywords: patient re-coming, medical check-up, health examination, data mining, sequential pattern mining, association rules, discriminant analysis

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Authors: T. Nguyen, H. Rennie, S. Vallance, M. Mackay

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Municipal Associations, also called Unions, Leagues or Federations of municipalities have been established worldwide to represent the interests and needs of urban governments in the face of increasing urban issues. In 2008, the Association of Cities of Vietnam (ACVN) joined the Asian Coalition of Community Action Program (ACCA program) and introduced the community-based upgrading approach to help Vietnamese cities to address urban upgrading issues. While this community-based upgrading approach has only been implemented in a small number of Vietnamese cities and its replication has faced certain challenges, it is worthy to explore insights on how the Association of cities of Vietnam played its role in implementing some reportedly successful projects. This paper responds to this inquiry and presents results extracted from the author’s PhD study that sets out with a general objective to critically examine how social capital dimensions (i.e., bonding, bridging and linking) were formed, mobilized and maintained in a local collective and community-based upgrading process. Methodologically, the study utilized the given general categorization of bonding, bridging and linking capitals to explore and confirm how social capital operated in the real context of a community-based upgrading process, particularly in the context of Vietnam. To do this, the study conducted two exploratory and qualitative case studies of housing projects in Friendship neighbourhood (Vinh city) and Binh Dong neighbourhood (Tan An city). This paper presents the findings of the Friendship neighbourhood case study, focusing on the role of the Vietnamese municipal association in forming, mobilizing and maintaining bonding, bridging and linking capital for a community-based upgrading process. The findings highlight the essential but uncertain role of ACVN - the organization that has a hybrid legitimacy status - in such a process. The results improve our understanding both practically and theoretically. Practically, the results offer insights into the performance of a municipal association operating in a transitioning socio-political context of Vietnam. Theoretically, the paper questions the necessity of categorizing social capital dimensions (i.e., bonding, bridging and linking) by suggesting a holistic approach of looking at social capital for urban governance issues within the Vietnamese context and perhaps elsewhere.

Keywords: bonding capital, bridging capital, municipal association, linking capital, social capital, housing upgrading

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Authors: K. M. Shahunja, Peter D. Sly, Tahmina Begum, Tuhin Biswas, Abdullah Mamun

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Background: Various associations between different environmental exposures and asthma have been reported in different countries and populations. We aimed to investigate the associations between family, neighbourhood, and psychosocial environmental factors and asthma in Australia by conducting a systematic review and meta-analysis. Methods: We analysed the primary research studies conducted in Australia across multiple databases, including PubMed, EMBASE, and Scopus, and published between 2000 and 2020. The reviews and analyses focused on the overall association of different environmental exposures with the development or exacerbation of asthma symptoms or asthma-related hospital visits. Quality-effect meta-analysis was done to estimate the pooled odds ratio for different environmental exposures for asthma symptoms. Findings: Among the 4,799 unique published articles found, 46 were included here for systematic review and 28 for meta-analysis. Our review found that psychosocial factors, including low socioeconomic condition, maternal depression, mental stress, ethnicity, and discrimination, are associated with asthma symptoms. Pooled analysis was conducted on family and neighbourhood environmental factors and revealed that environmental tobacco smoking (ETS) (OR 1·69, 95% CI 1·19–2.38), synthetic bedding (OR 1·91, 95% CI 1·48–2·47) and gas heaters (OR 1·40, 95% CI 1·12–1·76) had significant overall associations with asthma-symptoms in Australia. Conclusion: Although the studies were heterogeneous, both systematic review and meta-analysis found several psychosocial and family environmental exposures to be significantly associated with asthma symptoms. Further study to identify their causal relationship and modification may reduce asthma symptoms in the Australian population.

Keywords: asthma, Australia, environment, systematic review

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Authors: Fred N. H. Parker, Nicola T. Fear, S. A. M. Stevelink, L. Rafferty

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Purpose Auditory problems, such as hearing loss and tinnitus, have been associated with mental health problems and alcohol misuse in the UK general population and in the US Armed Forces; however, few studies have examined these associations within the UK Armed Forces. The present study examined the association between auditory problems and probable common mental disorders, post-traumatic stress disorder and alcohol misuse. Methods 5474 serving and ex-service personnel from the UK Armed Forces were examined, selected from those who responded to phase two (data collection 2007–09) and phase three (2014–16) of a military cohort study. Multivariable logistic regression was used to examine the association between auditory problems at phase two and mental health problems at phase three. Results 9.7% of participants reported ever experiencing hearing problems alone, 7.9% reported tinnitus within the last month alone, and 7.8% reported hearing problems with tinnitus. After adjustment, hearing problems with tinnitus at phase two was associated with increased odds of probable common mental disorders (AOR = 1.50, 95% CI 1.09–2.08), post-traumatic stress disorder (AOR = 2.30, 95% CI 1.41–3.76), and alcohol misuse (AOR = 1.94, 95% CI 1.28–2.96) at phase three. Tinnitus alone was associated with probable post-traumatic stress disorder (AOR = 1.80, 95% CI 1.03–3.15); however, hearing problems alone were not associated with any outcomes of interest. Conclusions The association between auditory problems and mental health problems emphasizes the importance of the prevention of auditory problems in the Armed Forces: through enhanced audiometric screening, improved hearing protection equipment, and greater levels of utilization of such equipment.

Keywords: armed forces, hearing problems, tinnitus, mental health, alcohol misuse

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Authors: Li-Ching Chen

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The case-control design has been widely applied in clinical and epidemiological studies to investigate the association between risk factors and a given disease. The retrospective design can be easily implemented and is more economical over prospective studies. To adjust effects for confounding factors, methods such as stratification at the design stage and may be adopted. When some major confounding factors are difficult to be quantified, a matching design provides an opportunity for researchers to control the confounding effects. The matching effects can be parameterized by the intercepts of logistic models and the conditional logistic regression analysis is then adopted. This study demonstrates an information-matrix-based goodness-of-fit statistic to test the validity of the logistic regression model for matched case-control data. The asymptotic null distribution of this proposed test statistic is inferred. It needs neither to employ a simulation to evaluate its critical values nor to partition covariate space. The asymptotic power of this test statistic is also derived. The performance of the proposed method is assessed through simulation studies. An example of the real data set is applied to illustrate the implementation of the proposed method as well.

Keywords: conditional logistic model, goodness-of-fit, information matrix, matched case-control studies

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Authors: Essam A. Makky, Chan Cai Wen, Muna Jalal, Mashitah M. Yusoff

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Termites are considered as important pests that could cause severe wood damage and economic losses in urban, agriculture and forest of Malaysia. The ability of termites to degrade cellulose depends on association of gut cellulolytic microflora or better known as mutual symbionts. With the idea of disrupting the mutual symbiotic association, better pest control practices can be attained. This study is aimed to isolate cellulolytic bacteria from the gut of termites and carry out antibacterial studies for the termite. Confirmation of cellulase activity is done by qualitative and quantitative methods. Impacts of antibiotics and their combinations, as well as heavy metals and disinfectants, are conducted by using disc diffusion method. Effective antibacterial agents are then subjected for termite treatment to study the effectiveness of the agents as termiticides. 24 cellulolytic bacteria are isolated, purified and screened from the gut of termites. All isolates were identified as Gram-negative with either rod or cocci in shape. For antibacterial studies result, isolates were found to be 100% sensitive to 4 antibiotics (rifampicin, tetracycline, gentamycin, and neomycin), 2 heavy metals (cadmium and mercury) and 3 disinfectants (lactic acid, formalin, and hydrogen peroxide). 22 out of 36 antibiotic combinations showed synergistic effect while 15 antibiotic combinations showed an antagonistic effect on isolates. The 2 heavy metals and 3 disinfectants that showed 100% effectiveness, as well as 22 antibiotic combinations, that showed synergistic effect were used for termite control. Among the 27 selected antibacterial agents, 12 of them were found to be effective to kill all the termites within 1 to 6 days. Mercury, lactic acid, formalin and hydrogen peroxide were found to be the most effective termiticides in which all termites were killed within 1 day only. These effective antibacterial agents possess a great potential to be a new application to control the termite pest species in the future.

Keywords: antibacterial, cellulase, termicide, termites

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Authors: Xin Qi Dong, Melissa Simon

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Aims: Elder mistreatment and suicidal ideation are important public health concerns among aging populations. This study will examine the association between elder mistreatment and suicidal ideation among Chinese older adults in the USA. Methods: Guided by a community-based participatory research approach, in this study we conducted in-person interviews with Chinese older adults aged 60 years and older in the Greater Chicago area from 2011 to 2013. Elder mistreatment was assessed by a 10-item instrument derived from the Hwalek-Sengstock Elder Abuse Screening Test (H-S/EAST) and the Vulnerability to Abuse Screening Scale (VASS). Suicidal ideation was assessed by the ninth item of the Patient Health Questionnaire-9 (PHQ-9) and the Geriatric Mental State Examination-Version A (GMS-A). Results: Overall, 3,159 Chinese older adults participated in this study, and their mean age was 72.8 years. After controlling for age, gender, education, income, medical comorbidities, depressive symptoms, and social support, elder mistreatment was significantly associated with 2-week suicidal ideation (OR 2.46, 95% CI 1.52--4.01) and 12-month suicidal ideation (OR 2.46, 95% CI 1.62--3.73). With respect to gender differences, the study found that the association remained significant for older women but not for older men after adjusting for all confounding factors. Conclusion: As the largest epidemiology study conducted among Chinese older adults in the USA, this study suggests that elder mistreatment is significantly associated with 2-week and 12-month suicidal ideation in older women but not in older men. Longitudinal studies should be conducted to explore the mechanisms through which elder mistreatment links with suicidal ideation.

Keywords: suicidal ideation, elder abuse, family violence, Asian health equity

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Authors: Manvar Sagar, Nikul Virpariya

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The advancement in data mining techniques plays an important role in many applications. In context of privacy and security issues, the problems caused by association rule mining technique are investigated by many research scholars. It is proved that the misuse of this technique may reveal the database owner’s sensitive and private information to others. Many researchers have put their effort to preserve privacy in Association Rule Mining. Amongst the two basic approaches for privacy preserving data mining, viz. Randomization based and Cryptography based, the later provides high level of privacy but incurs higher computational as well as communication overhead. Hence, it is necessary to explore alternative techniques that improve the over-heads. In this work, we propose an efficient, collusion-resistant cryptography based approach for distributed Association Rule mining using Shamir’s secret sharing scheme. As we show from theoretical and practical analysis, our approach is provably secure and require only one time a trusted third party. We use secret sharing for privately sharing the information and code based identification scheme to add support against malicious adversaries.

Keywords: Privacy, Privacy Preservation in Data Mining (PPDM), horizontally partitioned database, EMHS, MFI, shamir secret sharing

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Authors: Muhammad Fiaz, Muhammad Saqlain, Bernard M. Y. Cheung, S. M. Saqlan Naqvi, Ghazala Kaukab Raja

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Background: Association of C allele of rs662799 SNP of APOA5 gene with metabolic syndrome (MetS) has been reported in different populations around the world. A case control study was conducted to explore the relationship of rs662799 variants (T/C) with the MetS and the associated risk phenotypes in a population of Pakistani origin. Methods: MetS was defined according to the IDF criteria. Blood samples were collected from the Pakistan Institute of Medical Sciences, Islamabad, Pakistan for biochemical profiling and DNA extraction. Genotyping of rs662799 was performed using mass ARRAY, iPEX Gold technology. A total of 712 unrelated case and control subjects were genotyped. Data were analyzed using Plink software and SPSS 16.0. Results: The risk allele C of rs662799 showed highly significant association with MetS (OR=1.5, Ρ=0.002). Among risk phenotypes, dyslipidemia, and obesity showed strong association with SNP (OR=1.49, p=0.03; OR =1.46, p=0.01) respectively in models adjusted for age and gender. Conclusion: The rs662799C allele is a significant risk marker for MetS in the local Pakistani population studied. The effect of the SNP is more on dyslipidemia than the other components of the MetS.

Keywords: metabolic syndrome, APOA5, rs662799, dyslipidemia, obesity

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Authors: Li Sheng

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Based on an extended post-Keynesian model, we find that the association between the savings rate and income inequality is negative if savers’ funds are borrowed by spending households for consumption but positive if savings are channeled to investing firms for production. A negative association, such as the one that exists in the U.S., hinges on an income illusion created by an asset bubble and cheap credit. Thus, financial globalization leads consumption and income inequality to diverge, and the divergence is more extreme if lower-income groups have higher debt ratios. A positive association, such as the one that exists in China, relates to liquidity constraints faced by consumers such that consumption inequality closely follows income inequality. Our results imply that income inequality must be reduced in both types of countries to increase savings in deficit economies with negative associations and to reduce savings in surplus economies with positive associations.

Keywords: savings rate, income inequality, financial globalization, global imbalances

Procedia PDF Downloads 446