Search results for: genome-wide association analysis

Authors: Salina Y. Saddick

Abstract:

Mild gestational hyperglycemia (MGH) is a very common complication of pregnancy that is characterized by intolerance to glucose. The association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism to MGH has been previously reported. In this study, we evaluated the association between ACE polymorphism and the risk of MGH in a Saudi population. We conducted a case-control study in a population of 100 MGH patients and 100 control subjects. ACE gene polymorphism was analyzed by the novel approach of tetraprimer amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR). The frequency of ACE polymorphism was not associated with either alleles or genotypes in MGH patients. Glucose concentration was found to be significantly associated with the MGH group. Our study suggests that ACE genotypes were not associated with ACE polymorphism in a Saudi population.

Keywords: MGH, ACE, insertion polymorphism, deletion polymorphism

Procedia PDF Downloads 319

Authors: Paul Narh Doku

Abstract:

The relationship between parental HIV/AIDS status or death and child mental health is well known, although the role of child maltreatment as a confounder or mediator in this relationship remains uncertain. This study examined the potential path mechanism through child maltreatment mediating the link between HIV/AIDS family dysfunction trajectories and psychosocial problems. A cross-sectional survey was conducted in the Lower Manya Municipal Assembly of Ghana. A questionnaire which consisted of the Strengths and Difficulties Questionnaire (SDQ), Social and Health Assessment (SAHA), Rosenberg Self-Esteem Scale (RSES), and the Conflict Tactics Scale (CTS) was completed by 291 adolescents. Controlling for relevant sociodemographic confounders, mediation analyses using linear regression were fitted to examine whether the association between family dysfunction and psychosocial problems is mediated by child maltreatment. The results indicate that, among adolescents, child maltreatment fully mediated the association between being orphaned by AIDS and self-esteem, delinquency and risky behaviours, and peer problems. Similarly, child maltreatment fully mediated the association between living with an HIV/AIDS-infected parent and self-esteem, delinquency and risky behaviours, depression/emotional problems, and peer problems. Partial mediation was found for hyperactivity. Child maltreatment mediates the association between the family dysfunction trajectories of parental HIV/AIDS or death and psychosocial problems among adolescents. This implies that efforts to address child maltreatment among families affected by HIV/AIDS may be helpful in the prevention of psychosocial problems among these children, thus enhancing their well-being. The findings, therefore, underscore the need for comprehensive psychosocial interventions that address both the unique negative exposures of HIV/AIDS and maltreatment for children affected by HIV.

Keywords: child maltreatment, child abuse, mental health, psychosocial problems, domestic violence, HIV/AIDS, adolescents

Procedia PDF Downloads 82

Authors: Adeniyi Samuel Adekoya

Abstract:

The study assessed the independent effects of age and energy expenditure on the risks of obesity among adults (20-64 years). A cross-sectional study with changes in age, changes in work and leisure-time, and physical activities information played roles, with cut-off for energy expenditure and BMI in rural and urban localities. Physical activity information determined the energy expenditure, while the BMI determined the risk of obesity among the subjects. Statistically, age has a strong and direct association with obesity in both rural and urban settings, while energy expenditure was inverse in its association. Findings from the this study showed that in developing societies, age tends to be a risk factor for obesity, whereas energy expenditure is to be protective. Level of education and economic development are also relevant modifiers of the influences exerted by these variables.

Keywords: age, energy expenditure, BMI, rural/urban

Procedia PDF Downloads 430

Authors: Wei-Chih Huang, Pei-Lung Chung, Ching-Heng Lin, Hsuan-Chia Yang, Der-Ming Liou

Abstract:

Background: In-Hospital Cardiac Arrest (IHCA) threaten life of the inpatients, cause serious effect to patient safety, quality of inpatients care and hospital service. Health providers must identify the signs of IHCA early to avoid the occurrence of IHCA. This study will consider the potential association between early signs of IHCA and the essence of patient care provided by nurses and other professionals before an IHCA occurs. The aim of this study is to identify significant associations between nursing interventions and abnormal early evaluation results of IHCA that can assist health care providers in monitoring inpatients at risk of IHCA to increase opportunities of IHCA early detection and prevention. Materials and Methods: This study used one of the data mining techniques called association rules mining to compute associations between nursing interventions and abnormal early evaluation results of IHCA. The nursing interventions and abnormal early evaluation results of IHCA were considered to be co-occurring if nursing interventions were provided within 24 hours of last being observed in abnormal early evaluation results of IHCA. The rule based methods were utilized 23.6 million electronic medical records (EMR) from a medical center in Taipei, Taiwan. This dataset includes 733 concepts of nursing interventions that coded by clinical care classification (CCC) codes and 13 early evaluation results of IHCA with binary codes. The values of interestingness and lift were computed as Q values to measure the co-occurrence and associations’ strength between all in-hospital patient care measures and abnormal early evaluation results of IHCA. The associations were evaluated by comparing the results of Q values and verified by medical experts. Results and Conclusions: The results show that there are 4195 pairs of associations between nursing interventions and abnormal early evaluation results of IHCA with their Q values. The indication of positive association is 203 pairs with Q values greater than 5. Inpatients with high blood sugar level (hyperglycemia) have positive association with having heart rate lower than 50 beats per minute or higher than 120 beats per minute, Q value is 6.636. Inpatients with temporary pacemaker (TPM) have significant association with high risk of IHCA, Q value is 47.403. There is significant positive correlation between inpatients with hypovolemia and happened abnormal heart rhythms (arrhythmias), Q value is 127.49. The results of this study can help to prevent IHCA from occurring by making health care providers early recognition of inpatients at risk of IHCA, assist with monitoring patients for providing quality of care to patients, improve IHCA surveillance and quality of in-hospital care.

Keywords: in-hospital cardiac arrest, patient safety, nursing intervention, association rule mining

Procedia PDF Downloads 271

Authors: Reinaldo Biscaro, Luciano R. Ferreira, Leonardo C. Biscaro, Raphael C. Biscaro, Isabela S. Vasconcelos, Laura C. R. Ferreira, Cristiano M. Galhardi, Erica P. Baciuk

Abstract:

Introduction: The present study had the objective to present the profile of workers with shoulder disorders related to labor lawsuits in Brazil. The study analyzed the association between the worker’s health and the actions performed by the companies related to injured professional. The research method performed a retrospective, cross-sectional and quantitative database analysis. The documents of labor lawsuits with shoulder injury registered at the Regional Labor Court in the 15^th region (Campinas - São Paulo) were submitted to the medical examination and evaluated during the period from 2012 until 2015. The data collected were age, gender, onset of symptoms, length of service, current occupation, type of shoulder injury, referred complaints, type of acromion, associated or related diseases, company actions as CAT (workplace accident communication), compliance of NR7 by the organization (Environmental Risk Prevention Program - PPRA and Medical Coordination Program in Occupational Health - PCMSO). Results: From the 93 workers evaluated, there was a prevalence of men (58.1%), with a mean age of 42.6 y-o, and 54.8% were included in the age group 35-49 years. Regarding the length of work time in the company, 66.7% have worked for more than 5 years. There was an association between gender and current occupational status (p < 0.005), with predominance of women in household occupation (13 vs. 2) and predominance of unemployed men in job search situation (24 vs. 10) and reintegrated to work by judicial decision (8 vs. 2). There was also a correlation between pain and functional limitation (p < 0.01). There was a positive association of PPRA with the complaint of functional limitation and negative association with pain (p < 0.04). There was also a correlation between the sedentary lifestyle and the presence of PCMSO and PPRA (p < 0.04), and the absence of CAT in the companies (p < 0.001). It was concluded that the appearance or aggravation of osseous and articular shoulder pathologies in workers who have undertaken labor law suits seem to be associated with individual habits or inadequate labor practices. These data can help preventing the occurrence of these lesions by implementing local health promotion policies at work.

Keywords: work-related accidents, cross-sectional study, shoulder lesions, labor lawsuits

Procedia PDF Downloads 218

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

Abstract:

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

Procedia PDF Downloads 312

Authors: Tanvi P. Patel, Warish D. Patel

Abstract:

Association rule mining forms the core of data mining and it is termed as one of the well-known methodologies of data mining. Objectives of mining is to find interesting correlations, frequent patterns, associations or casual structures among sets of items in the transaction databases or other data repositories. Hence, association rule mining is imperative to mine patterns and then generate rules from these obtained patterns. For efficient targeted query processing, finding frequent patterns and itemset mining, there is an efficient way to generate an itemset tree structure named Memory Efficient Itemset Tree. Memory efficient IT is efficient for storing itemsets, but takes more time as compare to traditional IT. The proposed strategy generates maximal frequent itemsets from memory efficient itemset tree by using levelwise pruning. For that firstly pre-pruning of items based on minimum support count is carried out followed by itemset tree reconstruction. By having maximal frequent itemsets, less number of patterns are generated as well as tree size is also reduced as compared to MEIT. Therefore, an enhanced approach of memory efficient IT proposed here, helps to optimize main memory overhead as well as reduce processing time.

Keywords: association rule mining, itemset mining, itemset tree, meit, maximal frequent pattern

Procedia PDF Downloads 371

Authors: Elsayeda M. Elgaml, Dina M. Ibrahim, Elsayed A. Sallam

Abstract:

Association rule mining is one of the most important fields of data mining and knowledge discovery. In this paper, we propose an efficient multiple support frequent pattern growth algorithm which we called “MSFP-growth” that enhancing the FP-growth algorithm by making infrequent child node pruning step with multiple minimum support using maximum constrains. The algorithm is implemented, and it is compared with other common algorithms: Apriori-multiple minimum supports using maximum constraints and FP-growth. The experimental results show that the rule mining from the proposed algorithm are interesting and our algorithm achieved better performance than other algorithms without scarifying the accuracy.

Keywords: association rules, FP-growth, multiple minimum supports, Weka tool

Procedia PDF Downloads 485

Authors: Leonard Lipovich, Pattaraporn Thepsuwan, Anton-Scott Goustin, Juan Cai, Donghong Ju, James B. Brown

Abstract:

Two-thirds of human genes do not encode any known proteins. Aside from long non-coding RNA (lncRNA) genes with recently-discovered functions, the ~40,000 non-protein-coding human genes remain poorly understood, and a role for their transcripts as de-facto unconventional messenger RNAs has not been formally excluded. Ribosome profiling (Riboseq) predicts translational potential, but without independent evidence of proteins from lncRNA open reading frames (ORFs), ribosome binding of lncRNAs does not prove translation. Previously, we mass-spectrometrically documented translation of specific lncRNAs in human K562 and GM12878 cells. We now examined lncRNA translation in human MCF7 cells, integrating strand-specific Illumina RNAseq, Riboseq, and deep mass spectrometry in biological quadruplicates performed at two core facilities (BGI, China; City of Hope, USA). We excluded known-protein matches. UCSC Genome Browser-assisted manual annotation of imperfect (tryptic-digest-peptides)-to-(lncRNA-three-frame-translations) alignments revealed three peptides hypothetically explicable by 'stop-to-nonstop' in-frame replacement of stop codons by amino acids in two ORFs of the lncRNA MMP24-AS1. To search for this phenomenon genomewide, we designed and implemented a novel pipeline, matching tryptic-digest spectra to wildcard-instead-of-stop versions of repeat-masked, six-frame, whole-genome translations. Along with singleton putative stop-to-nonstop events affecting four other lncRNAs, we identified 24 additional peptides with stop-to-nonstop in-frame substitutions from multiple positive-strand MMP24-AS1 ORFs. Only UAG and UGA, never UAA, stop codons were impacted. All MMP24-AS1-matching spectra met the same significance thresholds as high-confidence known-protein signatures. Targeted resequencing of MMP24-AS1 genomic DNA and cDNA from the same samples did not reveal any mutations, polymorphisms, or sequencing-detectable RNA editing. This unprecedented apparent gene-specific violation of the genetic code highlights the importance of matching peptides to whole-genome, not known-genes-only, ORFs in mass-spectrometry workflows, and suggests a new mechanism enhancing the combinatorial complexity of the proteome. Funding: NIH Director’s New Innovator Award 1DP2-CA196375 to LL.

Keywords: genetic code, lncRNA, long non-coding RNA, mass spectrometry, proteogenomics, ribo-seq, ribosome, RNAseq

Procedia PDF Downloads 235

Authors: Ghirmay Teklemicheal, Samsom Mehari, Sara Tesfay

Abstract:

Objectives: A total of 1074 suspected chikungunya cases were reported in Tesseney Province, Gash Barka region, Eritrea, during an outbreak. This study was aimed to assess the possible association of chikungunya severity among ABO blood groups and other potential determinants. Methods: A sex-matched and age-matched case-control study was conducted during the outbreak. For each case, one control subject had been selected from the mild Chikungunya cases. Along the same line of argument, a second control subject had also been designated through which neighborhood of cases were analyzed, scrutinized, and appeared to the scheme of comparison. Time is always the most sacrosanct element in pursuance of any study. According to the temporal calculation, this study was pursued from October 15, 2018, to November 15, 2018. Coming to the methodological dependability, calculating odds ratios (ORs) and conditional (fixed-effect) logistic regression methods were being applied. As a consequence of this, the data was analyzed and construed on the basis of the aforementioned methodological systems. Results: In this outbreak, 137 severe suspected chikungunya cases and 137 mild chikungunya suspected patients, and 137 controls free of chikungunya from the neighborhood of cases were analyzed. Non-O individuals compared to those with O blood group indicated as significant with a p-value of 0.002. Separate blood group comparison among A and O blood groups reflected as significant with a p-value of 0.002. However, there was no significant difference in the severity of chikungunya among B, AB, and O blood groups with a p-value of 0.113 and 0.708, respectively, and a strong association of chikungunya severity was found with hypertension and diabetes (p-value of < 0.0001); whereas, there was no association between chikungunya severity and asthma with a p-value of 0.695 and also no association with pregnancy (p-value =0.881), ventilator (p-value =0.181), air conditioner (p-value = 0.247), and didn’t use latrine and pit latrine (p-value = 0.318), among individuals using septic and pit latrine (p-value = 0.567) and also among individuals using flush and pit latrine (p-value = 0.194). Conclusions: Non- O blood groups were found to be at risk more than their counterpart O blood group individuals with severe form of chikungunya disease. By the same token, individuals with chronic disease were more prone to severe forms of the disease in comparison with individuals without chronic disease. Prioritization is recommended for patients with chronic diseases and non-O blood group since they are found to be susceptible to severe chikungunya disease. Identification of human cell surface receptor(s) for CHIKV is quite necessary for further understanding of its pathophysiology in humans. Therefore, molecular and functional studies will necessarily be helpful in disclosing the association of blood group antigens and CHIKV infections.

Keywords: Chikungunya, Chikungunya virus, disease outbreaks, case-control studies, Eritrea

Procedia PDF Downloads 164

Authors: Anida Causevic-Ramosevac, Sabina Semiz

Abstract:

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

Procedia PDF Downloads 249

Authors: Nélio Veiga, Paula Ferreira, Tiago Correia, Maria J. Correia, Carlos Pereira, Odete Amaral, Ilídio J. Correia

Abstract:

Introduction: The application of fissure sealants is considered to be an important primary prevention method used in dental medicine. However, the formation of microleakage gaps between tooth enamel and the fissure sealant applied is one of the most common reasons of dental caries development in teeth with fissure sealants. The association between various dental biomaterials may limit the major disadvantages and limitations of biomaterials functioning in a complementary manner. The present study consists in the incorporation of a cariostatic agent – silver diamine fluoride (SDF) – in a resin-based fissure sealant followed by the study of release kinetics by spectrophotometry analysis of the association between both biomaterials and assessment of the inhibitory effect on the growth of the reference bacterial strain Streptococcus mutans (S. mutans) in an in vitro study. Materials and Methods: An experimental in vitro study was designed consisting in the entrapment of SDF (Cariestop^® 12% and 30%) into a commercially available fissure sealant (Fissurit^®), by photopolymerization and photocrosslinking. The same sealant, without SDF was used as a negative control. The effect of the sealants on the growth of S. mutans was determined by the presence of bacterial inhibitory halos in the cultures at the end of the incubation period. In order to confirm the absence of bacteria in the surface of the materials, Scanning Electron Microscopy (SEM) characterization was performed. Also, to analyze the release profile of SDF along time, spectrophotometry technique was applied. Results: The obtained results indicate that the association of SDF to a resin-based fissure sealant may be able to increase the inhibition of S. mutans growth. However, no SDF release was noticed during the in vitro release studies and no statistical significant difference was verified when comparing the inhibitory halo sizes obtained for test and control group.  Conclusions: In this study, the entrapment of SDF in the resin-based fissure sealant did not potentiate the antibacterial effect of the fissure sealant or avoid the immediate development of dental caries. The development of more laboratorial research and, afterwards, long-term clinical data are necessary in order to verify if this association between these biomaterials is effective and can be considered for being used in oral health management. Also, other methodologies for associating cariostatic agents and sealant should be addressed.

Keywords: biomaterial, fissure sealant, primary prevention, silver diamine fluoride

Procedia PDF Downloads 259

Authors: Rabia Faridi, Rizwana Maqbool, Umara Sahar Rana, Zaheer Ahmad

Abstract:

Climate change impacts agriculture, notably in Germany, where spring faba beans predominate. However, improved winter hardiness aligns with milder winters, enabling autumn-sown varieties. Genetic resistance to Ascochyta blight is vital for crop integration. Traditional breeding faces challenges due to complex inheritance. This study assessed 224 homozygous faba bean lines for Ascochyta resistance traits. To achieve h²>70%, 12 replicates were required (realized h²=87%). Genetic variation and strong trait correlations were observed. Five lines outperformed 29H, while three were highly susceptible. A genome-wide association study (GWAS) with 188 inbred lines and 2058 markers, including 17 guide SNP markers, identified 12 markers associated with resistance traits, potentially indicating new resistance genes. One guide marker (Vf-Mt1g014230-001) on chromosome III validated a known QTL. The guided marker approach complemented GWAS, facilitating marker-assisted selection for Ascochyta resistance. The Göttingen Winter Bean Population offers promise for resistance breeding.

Keywords: genome wide association studies, marker assisted breeding, faba bean, ascochyta blight

Procedia PDF Downloads 59

Authors: Mohammad Ahangari

Abstract:

Schizophrenia is a psychiatric disorder with symptoms that include cognitive deficits and nicotine has been suggested to have an effect on cognition. In recent years, the advents of Genome-Wide Association Studies(GWAS) has evolved our understanding about the genetic causes of complex disorders such as schizophrenia and studying the role of genome-wide significant genes could potentially lead to the development of new therapeutic agents for treatment of cognitive deficits in schizophrenia. The current study identified six Single Nucleotide Polymorphisms (SNP) from schizophrenia and smoking GWAS that are located on or in close proximity to the nicotinic receptor gene cluster (CHRN) and studied their association with cognition in an Irish sample of 1297 cases and controls using linear regression analysis. Further on, the interaction between CHRN gene cluster and Dopamine receptor D2 gene (DRD2) during working memory was investigated. The effect of these polymorphisms on nicotinic and dopaminergic neurotransmission, which is disrupted in schizophrenia, have been characterized in terms of their effects on memory, attention, social cognition and IQ as measured by a neuropsychological test battery and significant effects in two polymorphisms were found across global IQ domain of the test battery.

Keywords: cognition, dopamine, GWAS, nicotine, schizophrenia, SNPs

Procedia PDF Downloads 346

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

Abstract:

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

Procedia PDF Downloads 148

Authors: Daniela Prado, Lexi Frankel, Amalia Ardeljan, Lokesh Manjani, Matthew Cardeiro, Omar Rashid

Abstract:

Background: Clostridium difficile (C. diff) is a gram-positive bacterium that is known to cause life-threatening diarrhea and severe inflammation of the colon. It originates as an alteration of the gut microbiome and can be transmitted through spores. Recent studies have shown a high association between the development of C. diff in cancer patients due to extensive hospitalization. However, research is lacking regarding C. diff’s association in the causation or prevention of cancer. The objective of this study was to therefore assess the correlation between Clostridium difficile infection (CDI) and the incidence of bone cancer. Methods: This retrospective analysis used data provided by a Health Insurance Portability and Accountability Act (HIPAA) compliant national database to evaluate the patients infected versus patients not infected with C. diff using ICD-10 and ICD-9 codes. Access to the database was granted by the Holy Cross Health, Fort Lauderdale, for the purpose of academic research. Standard statistical methods were used. Results: Between January 2010 and December 2019, the query was analyzed and resulted in 78863 patients in both the infected and control group, respectively. The two groups were matched by age range and CCI score. The incidence of bone cancer was 659 patients (0.835%) in the C. diff group compared to 1941 patients (2.461%) in the control group. The difference was statistically significant by a P-value < 2.2x10^-16 with an odds ratio (OR)= 0.33 (0.31-0.37) with a 95% confidence interval (CI). Treatment for CDI was analyzed for both C. diff infected and noninfected populations. 91 out of 16,676 (0.55%) patients with a prior C. diff infection and treated with antibiotics were compared to the control group were 275 out of 16,676 (1.65%) patients with no history of CDI and received antibiotic treatment. Results remained statistically significant by P-value <2.2x10-16 with an OR= 0.42 (0.37, 0.48). and a 95% CI. Conclusion: The study shows a statistically significant correlation between C. diff and a reduced incidence of bone cancer. Further evaluation is recommended to assess the potential of C. difficile in reducing bone cancer incidence.

Keywords: bone cancer, colitis, clostridium difficile, microbiome

Procedia PDF Downloads 277

Authors: Motlatso Rampedi

Abstract:

Nigeria has the fifth highest Total Fertility Rate in Sub-Saharan Africa at 5.5 children born to a woman. Some demographic research has found that there is an association between region of residence and fertility in Nigeria, with the Northern regions pertaining to high fertility and the Southern regions pertaining to low fertility levels. Even so, little attention has been given to understanding the effect of region of residence on fertility. Instead, a significant amount of research has been conducted on exploring the proximate determinants of fertility in Nigeria. The objective of this study was to test whether there is an association between region of residence and fertility in Nigeria. Using a sample size of 38 948 women aged 15-49 derived from the 2013 NDHS and the Poisson regression model for analysis, the study has found that region of residence has a significant effect on fertility. Moreover, the ANOVA test has shown that there is a socioeconomic disparity by region of residence in Nigeria. The Northern regions of Nigeria have shown to have higher levels of fertility as compared to the Southern regions. Therefore, while proximate determinants of fertility and socio-demographic characteristics of women are important, region of residence remains one of the fundamental determinants of fertility. Given these findings, it is recommended that government should not exhaust its resources or focus its fertility reduction policies and programmes at entire populations but target specific regions where fertility is most prevalent.

Keywords: high fertility, region, socioeconomic disparity, socio-demographic characteristics

Procedia PDF Downloads 308

Authors: I. Ramalho, S. Campos, M. Dias

Abstract:

Introduction: Endometriosis may play a role in the pathogenesis of ovarian cancer (OC), however, the risk and prognosis have not been well established. The association between these two pathologies could have an important impact on prevention and early diagnosis of OC. Objective: To analyze the prevalence of endometriosis associated ovarian cancer and related clinical, epidemiological and histopathological issues. Design: We conducted a retrospective case series analysis of patients diagnosed with endometriosis and ovarian cancer in the Gynecology Department of Coimbra University Hospital Center since 2006 to 2015. Methods: We collected data from women diagnosed with ovarian cancer, with anatomopathology records reporting findings of endometriosis in ovarian cancer patients. Patients were retrieved from the pathological records and appropriate medical records were retrospectively reviewed. Statistical analysis was performed using SPSS 22.0. Results: Histological evidence of endometriosis was found in 17 out of 261 patients diagnosed with ovarian cancer (OC) (6.51%). The most usual symptoms were pelvic pain, abdominal distension, asthenia, ascites, weight loss and nausea. Mean age at diagnosis was 61.2 ± 15.1, 41-86 years old, 33.3% were pre-menopausal patients and cancer stage distribution was predominantly stage I (31.3%) and stage III (56.3%). OC occurred unilaterally in 14 patients and 2 patients were diagnosed with a synchronous ovarian and endometrial cancer. Regarding histological type, 10 OC were classified as clear cell carcinoma (CCC), 4 endometrioid carcinomas (EC) and 3 mixed type (clear cell and endometrioid). Four ovarian carcinomas presumably arose from endometriomas: 3 CCC and 1 EC. Conclusions: In accordance with previous studies, clear cell was the most common pathological type in endometriotic patients, followed by endometrioid carcinomas, and two rare synchronous ovarian and endometrial carcinomas were registered. Although endometriosis association to OC is uncommon, endometriosis should be managed with special care in order to early diagnosis.

Keywords: endometriosis, histology, observational study, ovarian cancer

Procedia PDF Downloads 229

Authors: Gwendy Darras, Mattias Desmet

Abstract:

Previous research showed that psychological distress has a negative impact on the disease course of viral infections. For COVID-19, the same association was observed in small samples of specific segments of the population (e.g. health care workers). The present study presents a more refined analysis of this association, measuring a broader spectrum of psychological distress in a large sample (n=3084) of the general Flemish population. Several types of psychological distress (state, trait and health anxiety, depression, intra-, and interpersonal stress) are registered throughout three periods: one year before the contamination, one week before the contamination, and during the contamination. In doing so, validated scales such as DASS-21, IIP-32, and FCV-19S are used. Furthermore, the course of COVID-19 is registered in several ways: number of symptoms, number of days sick leave due to COVID-19, and number of days the symptoms have lasted. Also, different control variables such as vaccination status, medical and psychological history are taken into account. Statistical analysis shows that all types of psychological distress are positively correlated with the severity of the COVID-19 disease course. Anxiety during the contamination shows the strongest correlation, but psychological distress one year before the onset of COVID-19 was still significantly associated with the worsening of the disease course. As the assessment of the latter type of distress happened before the onset of the COVID-19 disease course, retrospective bias resulting in artificial associations between self-reported stress and COVID-19 severity is unlikely to have impacted the observations. In view of possible future pandemics, it is important to focus on general stress and anxiety reduction in the general population as soon as possible. It is also advisable to minimize the use of stress-inducing messages to encourage the population to adhere to the measures issued during a pandemic.

Keywords: anxiety, COVID-19, depression, psychoneuroimmunology, psychological distress, stress

Procedia PDF Downloads 83

Authors: Khadija Mushtaq, Muhammad Umar

Abstract:

The research aims to study the association between job satisfaction, motivation and the five factors of organizational citizenship behavior (i.e. Altruism, Conscientiousness, Sportsmanship, Courtesy and Civic virtue) among Public Sector Employees in Pakistan.In this research Structure Equation Modeling with confirmatory factor analysis was used to test the relationship between two independent and five dependent variables. Data was collected through questionnaire survey from 152 Public Servants Working in Gujrat District-Pakistan in different capacities. Stratified Random Sampling Technique was used to conduct this survey. The results of the study indicate that five factors of OCB have positive significant relation with both motivation and job satisfaction except the relationship of Civic Virtue with Motivation.The research findings implicate that factors other than motivation and job satisfaction may also affect OCB. Likewise, all the five factors of OCB may not be present in all populations. Thus, Managers must concentrate on increasing motivation and job satisfaction to increase OCB. Furthermore, the present research gives a direction to future researchers to use more independent variables (e.g. Culture, leadership, workplace environment, various job attitudes, types of motivation, etc.) on different types of populations with larger sample size in order to find the reasons behind insignificant relationship of civic virtue with Motivation in the research in hand and to generalize the tested model.

Keywords: five factors of organizational citizenship behavior (OCB), motivation, job satisfaction, public sector employees in Pakistan

Procedia PDF Downloads 343

Authors: Almutazballlah Qablan, Jihan M. Muhaidat, Bana Abu Rajab

Abstract:

Background: Acne vulgaris is the most common skin condition that general practitioners and dermatologists encounter. It represents a chronic inflammatory disease affecting the pilosebaceous unit. Although acne vulgaris is not a life-threatening condition, it has a considerable psychological impact on the affected person. Acne patients have poor body image, low self-esteem, social isolation, and restricted activities. As part of the emotional impact, increased levels of anxiety, anger, depression, and frustration have also been observed in acne patients. (1) In this study, we want to assess the association between two modifiable risk factors; BMI and smoking, regarding acne vulgaris. Methods: A case-control study was conducted at King Abdullah University Hospital in Irbid, north Jordan in 2019/2020. A total number of 163 Acne cases were collected and interviewed by the author; on the other hand, there were 162 control cases. Anthropometric measures for Acne patients and control individuals were taken, and BMI was calculated. Both groups were asked about smoking habits. Data on subjects between 14 and 33 years of age were extracted. The characteristics of people who reported acne were compared with those with no acne using univariate and multivariate analysis. The Statistical Package for Social Sciences (SPSS) was relied on to analyze the collected data. The crosstabs methods (chi-square) and odd ratios were relied on to test the study hypothesis. Results: Cigarette smoking was highly associated with no-acne, with an odds ratio of 0.4 (95% CI: 0.2–0.9), P-value = 0.018. BMI and waterpipe smoking were not significantly associated with acne in the multivariate analysis. Conclusion: Cigarette smoking was found to be protective from Acne. No significant relation between BMI nor waterpipe smoking and the development of Acne Vulgaris.

Keywords: acne, BMI, smoking, case-control

Procedia PDF Downloads 98

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

Abstract:

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

Procedia PDF Downloads 179

Authors: Esther Yin-Nei Cho

Abstract:

There is inconsistency among studies about whether there is an association between poverty and the subjective wellbeing of children. Some have found a positive association, though its magnitude could be limited, others have shown no association. One possible explanation for this inconsistency is that household income, an often-adopted measure of child poverty, may not accurately and stably reflect the actual life experience of children. Some studies have suggested, however, that material deprivation covering various dimensions of children’s lives could be a better measure of child poverty. Another possible explanation for the inconsistency is that the link between poverty and subjective wellbeing of children may not be that straightforward, as there could be underlying mechanisms, such as mediation and moderation, influencing its direction or strength. While a mediator refers to the mechanism through which an independent variable affects a dependent variable, a moderator changes the direction or strength of the relationship between an independent variable and a dependent variable. As suggested by empirical evidence, family relationships and friendships could be potential mediators or moderators of the link between poverty and subjective well-being: poverty affects relationships; relationships are an important element in children’s subjective well-being; and economic status affects child outcomes, though not necessarily subjective wellbeing, through relationships. Since the potential links have not been adequately understood, this study fills this gap by examining the possible role of family relationships and friendships as mediators or moderators between poverty (using child-derived material deprivation as measure) and the subjective wellbeing of children. Improving subjective wellbeing is increasingly considered as a policy goal. The finding of no or a limited association between poverty and subjective wellbeing of children could be a justification for less effort to improve poverty in this regard. But if the observed magnitude of that association is due to some underlying mechanisms at work, the effect of poverty may be underestimated and the potentially useful strategies that take into account both poverty and other mediators or moderators for improving children’s subjective well-being may be overlooked. Multiple mediation, and multiple moderation models, based on regression analyses, are performed to a sample of approximately 1,600 children, who are aged 10 to 15, from the wellbeing survey conducted by The Children’s Society in England from 2010 to 2011. Results show that the effect of children’s material deprivation on their subjective well-being is mediated by their family relationships and friendships. Moreover, family relationships are a significant moderator. It is found that the negative impact of child deprivation on subjective wellbeing could be exacerbated if family relationships are not going well, while good family relationships may prevent the further decline in subjective well-being. Policy implications of the findings are discussed. In particular, policy measures that focus on strengthening the family relationships or nurturing home environment through supporting household’s economic security and parental time with children could promote the subjective wellbeing of children.

Keywords: child poverty, mediation, moderation, subjective well-being of children

Procedia PDF Downloads 327

Authors: Syed M. Shahid, Rozeena Shaikh, Syeda N. Nawab, Abid Azhar

Abstract:

Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy and foot infections. Pathogenesis of diabetic nephropathy (DN) is implicated by the polymorphisms in genes encoding the specific components of renin angiotensin aldosterone system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and angiotensin converting enzyme (ACE) genes. This study was designed to explore the possible association of AG (M268T) polymorphism in the patients of diabetes and nephropathy in Pakistan. Study subjects included 100 controls, 260 diabetic patients without renal insufficiency and 190 diabetic nephropathy patients with persistent albuminuria. Fasting blood samples were collected from all the subjects after getting institutional ethical approval and informed consent. The biochemical estimations, PCR amplification and direct sequencing for the specific region of AGT gene was carried out. A significantly high frequency of TT genotype and T allele of AGT (M268T) was observed in the patients of diabetes with nephropathy as compared to controls and diabetic patients without any known renal impairment. The TT genotype and T allele of AGT (M268T) polymorphism may be considered as a genetic risk factor for the development and progression of nephropathy in diabetes. Further cross sectional population studies would be of help to establish and confirm the observed possible association of AGT gene variations with development of nephropathy in diabetes.

Keywords: RAAS, AGT (M268T), diabetes, nephropathy

Procedia PDF Downloads 526

Authors: Antonela Matana, Dubravka Brdar, Vesela Torlak, Marijana Popovic, Ivana Gunjaca, Ozren Polasek, Vesna Boraska Perica, Maja Barbalic, Ante Punda, Caroline Hayward, Tatijana Zemunik

Abstract:

Parathyroid hormone (PTH) plays a critical role in the regulation of bone mineral metabolism and calcium homeostasis. Higher PTH levels are associated with heart failure, hypertension, coronary artery disease, cardiovascular mortality and poorer bone health. A twin study estimated that 60% of the variation in PTH concentrations is genetically determined. Only one GWAS of PTH concentration has been reported to date. Identified loci explained 4.5% of the variance in circulating PTH, suggesting that additional genetic variants remain undiscovered. Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels in a general population. We have performed a GWAS meta-analysis on 2596 individuals originating from three Croatian cohorts: City of Split and the Islands of Korčula and Vis, within a large-scale project of “10,001 Dalmatians”. A total of 7 411 206 variants, imputed using the 1000 Genomes reference panel, with minor allele frequency ≥ 1% and Rsq ≥ 0.5 were analyzed for the association. GWAS within each data set was performed under an additive model, controlling for age, gender and relatedness. Meta-analysis was conducted using the inverse-variance fixed-effects method. Furthermore, to identify sex-specific effects, we have conducted GWAS meta-analyses analyzing males and females separately. In addition, we have performed biological pathway analysis. Four SNPs, representing one locus, reached genome-wide significance. The most significant SNP was rs11099476 on chromosome 4 (P=1.15x10-8), which explained 1.14 % of the variance in PTH. The SNP is located near the protein-coding gene RASGEF1B. Additionally, we detected suggestive association with SNPs, rs77178854 located on chromosome 2 in the DPP10 gene (P=2.46x10-7) and rs481121 located on chromosome 1 (P=3.58x10-7) near the GRIK1 gene. One of the top hits detected in the main meta-analysis, intron variant rs77178854 located within DPP10 gene, reached genome-wide significance in females (P=2.21x10-9). No single locus was identified in the meta-analysis in males. Fifteen biological pathways were functionally enriched at a P<0.01, including muscle contraction, ion homeostasis and cardiac conduction as the most significant pathways. RASGEF1B is the guanine nucleotide exchange factor, known to be associated with height, bone density, and hip. DPP10 encodes a membrane protein that is a member of the serine proteases family, which binds specific voltage-gated potassium channels and alters their expression and biophysical properties. In conclusion, we identified 2 novel loci associated with PTH levels in a general population, providing us with further insights into the genetics of this complex trait.

Keywords: general population, genome-wide association analysis, parathyroid hormone, single nucleotide polymorphisms.

Procedia PDF Downloads 225

Authors: S. I. Enem, S. I. Oboegbulem

Abstract:

Objective: The most frequently implicated E. coli serotype causing haemorrhagic colitis and haemorrhagic uraemic syndrome (HUS) is VTEC 0157. However, non-O157 VTEC is now known to be as prevalent as VETC O157 infection (or even more) in most parts of the world. The objective of the study was to establish the occurrence of non-O157 VTEC serotypes in cattle in the Federal Capital Territory (FCT) Abuja, Nigeria. The level of significance of the infection with sex, age and season were also tested. Methods: The study was carried out in the FCT, Abuja, Nigeria which is located between latitude 8o and 90 25` North of the equator and longitude 60 45` and 7045` East of the Greenwich meridian. The cross sectional epidemiological method and multi-staged sampling technique were used in this study. Samples were collected from the freshly voided faeces of both apparently healthy and diarrhoeic cattle in selected abattoirs and cattle herds. Enriched samples were analyzed bacteriologically and biochemically after which they were characterised using commercially prepared latex agglutination test kits. Results: A total of 718 faecal samples from cattle were analyzed for the presence of VTEC non-O157. Thirty eight (5.23%) were positive for non-O157. There was no significant association (p > 0.05) between sex and infection with non-O157 VTEC in cattle. There was a significant association (P < 0.05) between age and infection with non-O157 VTEC in cattle. Calves were more associated than the adults. There was also a significant association (P < 0.05) between season and infection with non-O157 VTEC in cattle. The dry season was more associated than the wet season. Conclusion: The study established the occurrence and prevalence of non-O157 VTEC in cattle in FCT, Abuja, Nigeria. As a major food animal in Nigeria, infection in cattle provides an epidemiological causal association to the infection in humans. The result showed that warmer seasons (dry season) stimulate the presence of VTEC infection in animals and thus, as a consequence, increases the number of human cases. The prevalence was also higher in younger calves (< 6 months) probably as a result of undeveloped immune system.

Keywords: prevalence, distribution, Verocytotoxigenic escherichia coli (VTEC), non-O157 serotypes, cattle

Procedia PDF Downloads 579

Authors: Diego Rodrigues, Marcelo Lisboa, Elismar Batista, Marcos Dias

Abstract:

Based on data on child labor, this work arises questions about how to understand and locate the factors that make up the child labor rates, and which properties are important to analyze these cases. Using data mining techniques to discover valid patterns on Brazilian social databases were evaluated data of child labor in the State of Tocantins (located north of Brazil with a territory of 277000 km2 and comprises 139 counties). This work aims to detect factors that are deterministic for the practice of child labor and their relationships with financial indicators, educational, regional and social, generating information that is not explicit in the government database, thus enabling better monitoring and updating policies for this purpose.

Keywords: social data, government decision making, association of social data, data mining

Procedia PDF Downloads 369

Authors: Rozeena Baig, R. Rehana Rehman, Rifat Ahmed

Abstract:

Background: Osteoporosis, characterized by low bone mineral density, poses a global health concern. Diagnosis increases the likelihood of developing osteoporosis, a multifactorial disorder marked by low bone mass, elevating the risk of fractures in the lumbar spine, femoral neck, hip, vertebras, and distal forearm, particularly in postmenopausal women due to bone loss influenced by various pathophysiological factors. Objectives: The aim is to investigate the association of serum cytokine, bone turnover marker, bone mineral density and TLR4 gene polymorphism in pre and post-menopausal women and to find if any of these can be the potential predictor of osteoporosis in postmenopausal women. Material and methods: The study participants consisted of Group A (n=91) healthy pre-menopausal women and Group B (n=102) healthy postmenopausal women having ≥ 5 years’ history of menopause. ELISA was performed for cytokine (TNFα) and bone turnover markers (carboxytelopeptides), respectively. Bone Mineral Density (BMD)was measured through a dual X-ray absorptiometry (DEXA) scan. Toll-like Receptors 4 (TLR4) gene polymorphisms (A896G; Asp299Gly) and (C1196T; Thr399Ile) were investigated by PCR and Sanger sequencing. Results: Statistical analysis reveals a positive correlation of age and BMI with T scores in the premenopausal group, whereas in post-menopausal group found a significant negative correlation between age and T-score at hip (r = - 0.352**), spine (r = - .306**), and femoral neck (r = - 0.344**) and a significant negative correlation of BMI with TNF-α (- 0.316**). No association and significant differences were observed for TLR4 genotype and allele frequencies among studied groups However, both SNPs exhibited significant association with each other. Conclusions: This study concludes that BMI, BMD and TNF-α are the potential predictors of osteoporosis in post-menopausal women. However, CTX and TLR4 gene polymorphism did not appear as potential predictors of bone loss in this study and apparently cannot help in predicting bone loss in post-menopausal women.

Keywords: osteoporosis, post-menopausal, pre-menopausal woemn, genetics mutaiont, TLR4 genepolymorphsum

Procedia PDF Downloads 41

Authors: Xiaohua Jing

Abstract:

Efficient extraction for separation of V and Cr in the leaching/aqueous solution is essential to the reuse of V and Cr in the V-Cr slag. Trioctylamine, a common tertiary amine extractant, with some good characters (e.g., weak base, insoluble in water and good stability) different from N1923, was investigated in this paper. The separation factor of Cr and V can be reached to 230.71 when initial pH of the aqueous solution is 0.5, so trioctylamine can be used for extracting Cr from the leaching/aqueous solution contained V and Cr. The highest extraction percentages of Cr and V were 98.73% and 90.22% when the initial pH values were 0.5 and 1.5, respectively. Via FT-IR spectra of loaded organic phase and trioctylamine, the hydrogen bond association mechanism of extracting V and Cr was investigated, which was the same with the way of extracting the two metals with primary amine N1923.

Keywords: selective extraction, trioctylamine, V and Cr, separation factor, hydrogen bond association

Procedia PDF Downloads 366

Authors: Hanan Azzam1, Nashwa Abousamra1, Amany Mansour1, Yaser Abd El-dayem2, , Solafa Elsharawy1

Abstract:

Background: Inherited thrombophilias are a heterogenous group of conditions which have been implicated in a variety of pregnancy complications. More recently, deficiency of protein Z (PZ) has been liked to pregnancy complications, including preterm delivery. Aim: We designed this study to evaluate the association of inherited thrombophilias including [Protein C (PC), Protein S (PS), Anti thrombin III (ATIII) deficiency and activated protein C (APC) resistance] and protein Z deficiency with a variety of pregnancy complications. Patients and Methods: 60 women with different pregnancy complications, including 20 patients with preeclampsia, 20 patients with intrauterine growth resistance (IUGR), and 20 patients with intrauterine fetal death (IUFD), in addition to 30 healthy pregnant women were recruited for the present study. PC and free PS antigen, ATIII activity, modified functional APC-resistance, and PZ levels were determined. Results: There was no significant association between inherited thrombophilias and complicated pregnancies as regards PC deficiency (p=1.0), AT III and PS deficiency (p=0.312), and APC-resistance (P=0.083). PZ was significantly associated with complicated pregnancies (p=0.012). Patients with protein Z levels below 1.5 µg/ml were considered deficient. Accordingly, we demonstrated protein Z deficiency in 30% of complicated pregnancies (RR 6.0, 95% CI 1.29-27.90;p=0.022), 20% of preeclampsia (RR 3.5, 95% CI 0.57 – 21.28; P = 0.174), 40% of IUGR (RR 9.3 95% CI 1.72-50.61; P = 0.010) and 30% of IUFD (RR 6, 95% CI 1.07 – 33.64; P = 0.042). Conclusions: These findings indicate the absence of association of inherited thrombophilias, including PC, PS, AT III deficiency, and APC resistance with pregnancy complications. However, PZ deficiency is associated with increased risk of pregnancy complications, especially intrauterine growth restriction and intrauterine fetal death.

Keywords: protein C, protein S, thrombophelia, pregnancy, protein Z

Procedia PDF Downloads 234