Search results for: gene family

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

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Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

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Authors: María José Benitez Jimenez

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This study seeks to make clear the importance of family reunification in order to establish consolidated habits of coexistence of immigrants, directly favoring the relationship of the family nucleus and indirectly the social integration of foreigners. In addition to the theoretical analysis of the subject, information has been reviewed by the National Institute of Statistics and Reports of Spanish organizations that compile data on immigrants and specifically on family reunification. The Spanish regulations on foreigners include the right of foreigners legally residing in Spain to regroup their families. The general conditions required to exercise this right are having legally resided in Spain for one year and having obtained authorization to reside for one more year. There are exceptions to the requirement of having resided for one year in our country. Article 39 of the Spanish Constitution, although it does not express what is to be understood as a family, does refer to the fact that ‘the public authorities ensure the social, economic and legal protection of the family’. Therefore for the Spanish State, the family institution, in a broad sense, enjoys a privileged treatment that is revealed in the Supreme Norm and that reflects the interest of our society to address the relationships that subjects have in their immediate environment. Although we are aware of the reluctant position of the Spanish Constitutional Court to consider as a fundamental right the right to family life despite being enshrined in Article 8 of the European Convention on Human Rights, it is questionable whether access to authorization for family reunification should be more uniform in terms of requirements related to nationality, employment or training of applicants in order to have an egalitarian character. The requirement of having resided one year in Spain to be able to request successful family reunification seems dispensable because if foreigners can obviate this requirement by having a certain status, its abolition would be feasible by equating all situations and benefiting foreigners in general. The achievement of this proposal would help to strengthen the family life of immigrants from the beginning of their life in Spain.

Keywords: family, immigrants, social integration, reunification

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Authors: Mudawamah Mudawamah, Muhammad Z. Fadli, Gatot Ciptadi, Aulanni’am

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Canary breeders have spread throughout Indonesian regions for the low-middle society and become an income source for them. The interesting phenomenon of the canary market is the feather colours become one of determining factor for the price. The advantages of this research were contributed to the molecular database as a base of selection and mating for the Indonesia canary breeder. The research method was experiment with the genome obtained from canary blood isolation. The genome did the PCR amplification with PMEL marker followed by sequencing. Canaries were used 24 heads of light and dark colour feathers. Research data analyses used BioEdit and Network 4.6.0.0 software. The results showed that all samples were amplification with PMEL gene with 500 bp fragment length. In base sequence of 40 was found Cytosine(C) in the light colour canaries, while the dark colour canaries was obtained Thymine (T) in same base sequence. Sequence results had 286-415 bp fragment and 10 haplotypes. The conclusions were the PMEL gene (gene of white pigment) was likely to be used PMEL gene to detect molecular genetic variation of dark and light colour feather.

Keywords: canary, haplotype, PMEL, sequence

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Authors: Mehravar Javid, Katherine Marshall Woods, Joseph Kosowsky, Anna Missner

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In this paper, "Life and a Day" is analyzed psychoanalytically with an emphasis on the ways by which addiction is influenced by personal psychology and familial ties. It explores the influence of parenting on one's sense of self and the function of therapeutic alliances in the treatment of addiction. The analysis also observes the main characters, with a special emphasis on Somayeh, who represents the continuation of her father's role in the family and faces identity and autonomy issues in the face of familial responsibilities. In addressing addiction, the document emphasizes the significance of comprehending family dynamics and individual psychological factors, emphasizing the interaction between personal trauma, family roles, and recovery.

Keywords: addiction, autonomy, family dynamics, identity, life and a day, psychoanalytic

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Authors: Mengying Wang, Dongjing Liu, Holger Schwender, Ping Wang, Hongping Zhu, Tao Wu, Terri H Beaty

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Background: Maternal smoking is a recognized risk factor for nonsyndromic cleft lip with or without cleft palate (NSCL/P). It has been reported that the effect of maternal smoking on oral clefts is mediated through genes that influence nicotine dependence. The polymorphisms of cholinergic receptor nicotinic alpha (CHRNA) and beta (CHRNB) subunits genes have previously shown strong associations with nicotine dependence. Here, we attempted to investigate whether the above genes are associated with clefting risk through testing for potential gene-gene (G×G) and gene-environment (G×E) interaction. Methods: We selected 120 markers in 14 genes associated with nicotine dependence to conduct transmission disequilibrium tests among 806 Chinese NSCL/P case-parent trios ascertained in an international consortium which conducted a genome-wide association study (GWAS) of oral clefts. We applied Cordell’s method using “TRIO” package in R to explore G×G as well as G×E interaction involving environmental tobacco smoke (ETS) based on conditional logistic regression model. Results: while no SNP showed significant association with NSCL/P after Bonferroni correction, we found signals for G×G interaction between 10 pairs of SNPs in CHRNA3, CHRNA5, and CHRNB4 (p<10-8), among which the most significant interaction was found between RS3743077 (CHRNA3) and RS11636753 (CHRNB4, p<8.2×10-12). Linkage disequilibrium (LD) analysis revealed only low level of LD between these markers. However, there were no significant results for G×ETS interaction. Conclusion: This study fails to detect association between nicotine dependence genes and NSCL/P, but illustrates the importance of taking into account potential G×G interaction for genetic association analysis in NSCL/P. This study also suggests nicotine dependence genes should be considered as important candidate genes for NSCL/P in future studies.

Keywords: Gene-Gene Interaction, Maternal Smoking, Nicotine Dependence, Non-Syndromic Cleft Lip with or without Cleft Palate

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Authors: Moneesh Thakur, Hridayesh Prasad, Nikitasha Bora, Parimal Roy Choudhary, A. K. Samanta, Sanjeev Kumar

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Canine demodicosis is a common parasitic condition which involves dog skin. Demodicosis in dogs is due the prominent growth of Demodex. Out of various canine Demodex spp., Demodex canis is the most often involved species. Canine demodicosis can occur as either a localized or generalized form of demodicosis severely affect the dogs and in non-treated dogs may cause death. This study was planned with the aim to screen and characterize the 18S rRNA gene of isolated Demodex canis. A total of 1200 dogs were screened during this study period. The skin scrapings of all the suspected dogs were examined under a microscope at 100X magnification for the presence of Demodex canis. The skin scrapings positive for Demodex canis were examined using PCR for confirmation. A total of 35 dogs were confirmed a positive result for D. canis based on 18S rRNA gene amplification by PCR. Further, the 18S rRNA gene of isolated Demodex canis was cloned and sequenced for genome analysis. On the sequence analysis, it was found that isolated sequence (GenBank Accession No. MK177513) had close similarity (99.7%) to that of D. canis genotype of China (Accession No. MG372254).

Keywords: PCR, phylogenetic analysis, cloning and sequening, Demodex canis

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Authors: Jyoti Singh, Swati Dubey, Mukta Singh, R. P. Singh

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The freshwater microalgae Chlorella sp. is alluring considerable interest as a source for biofuel production due to its fast growth rate and high lipid content. Under nitrogen limited conditions, they can accumulate significant amounts of lipids. Thus, it is important to gain insight into the molecular mechanism of their lipid metabolism. In this study under nitrogen limited conditions, regular pattern of growth characteristics lipid accumulation and gene expression analysis of key regulatory genes of lipid biosynthetic pathway were carried out in microalgae Chlorella sp 3. Our results indicated that under nitrogen limited conditions there is a significant increase in the lipid content and lipid productivity, achieving 44.21±2.64 % and 39.34±0.66 mg/l/d at the end of the cultivation, respectively. Time-course transcript patterns of lipid biosynthesis genes i.e. acetyl coA carboxylase (accD) and diacylglycerol acyltransferase (dgat) showed that during late log phase of microalgae Chlorella sp.3 both the genes were significantly up regulated as compared to early log phase. Moreover, the transcript level of the dgat gene is two-fold higher than the accD gene. The results suggested that both the genes responded sensitively to the nitrogen limited conditions during the late log stage, which proposed their close relevance to lipid biosynthesis. Further, this transcriptome data will be useful for engineering microalgae species by targeting these genes for genetic modification to improve microalgal biofuel quality and production.

Keywords: biofuel, gene, lipid, microalgae

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Authors: Amir Bastani

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The result of the research in the field of human behavioural genetics demonstrates a genetic contribution of behavioural differences in aggression, violence, drug and substance abuse, antisocial personality disorder and other related traits. As the field of human behavioural genetics progresses and achieves credibility, the criminal accused continue to use its types of evidence into the criminal law. One of the most important genetic factors which controls certain neurotransmitters like dopamine and serotonin is the Monoamine Oxidase Acid A (MAOA) gene, known as the 'warrior gene'. The high-profile study by Caspi and colleagues in 2002 showed that the combination between one type of variation of the MAOA gene and childhood maltreatment noticeably predisposes a person to antisocial behaviour. Moreover, further scientific research shows that individuals with the MAOA gene have to some degree difficulties in controlling their impulses. Based on the evidence of MAOA, some criminal accused claimed difficulties in self-control. In the first case – the famous case of Mobley – the court rejected the MAOA evidence on the ground of the lack of scientific support. In contrast, in other cases after the Mobley trial, courts accepted the evidence of MAOA. In this paper, the issue of lack of impulse control produced by the MAOA gene and cases which relied on the MAOA evidence and successfully being accepted will be reviewed in detail. Finally, the anticipation of the paper for the future use of the MAOA evidence in criminal cases will be presented.

Keywords: genetic defence, criminal responsibility, MAOA, self-control

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Authors: Tanveer Hussain, Misbah Hussain, Masroor Ellahi Babar, Muhammad Traiq Pervez, Fiaz Hussain, Sana Zahoor, Rashid Saif

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Interleukin 2 (IL-2) is a cytokine which is produced by activated T cells, play important role in immune response against antigen. It act in both autocrine and paracrine manner. It can stimulate B cells and various other phagocytic cells like monocytes, lymphokine-activated killer cells and natural killer cells. Acting in autocrine fashion, IL-2 protein plays a crucial role in proliferation of T cells. IL-2 triggers the release of pro and anti- inflammatory cytokines by activating several pathways. In present study, exon 1 of IL-2 gene of four local Pakistani breeds (Dera Din Panah, Beetal, Nachi and Kamori) from two provinces was amplified by using reported Ovine IL-2 primers, yielding PCR product of 501 bp. The sequencing of all samples was done to identify the polymorphisms in amplified region of IL-2 gene. Analysis of sequencing data resulted in identification of one novel nucleotide substitution (T→A) in amplified non-coding region of IL-2 gene. Comparison of IL-2 gene sequence of all four breeds with other goat breeds showed high similarity in sequence. While phylogenetic analysis of our local breeds with other mammals showed that IL-2 is a variable gene which has undergone many substitutions. This high substitution rate can be due to the decreased or increased changed selective pressure. These rapid changes can also lead to the change in function of immune system. This pioneering study of Pakistani goat breeds urge for further studies on immune system of each targeted breed for fully understanding the functional role of IL-2 in goat immunity.

Keywords: interleukin 2, mutational analysis, phylogeny, goat breeds, Pakistan

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Authors: Othman E. Othman, Hassan R. Darwish, Amira M. Nowier

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Lactoferrin (LF) is a multifunctional protein involved in economically production traits like milk protein composition and skeletal structure in small ruminants including sheep and goat. So, LF gene - with its genetic polymorphisms associated with production traits - is considered a candidate genetic marker used in marker-assisted selection in goats. This study aimed to identify the different alleles and genotypes of this gene in three Egyptian goat breeds using PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing. Genomic DNA was extracted from 120 animals belonging to Barki, Zaraibi, and Damascus goat breeds. Using specific primers, PCR amplified 247-bp fragments from exon 2 of LF goat gene. The PCR products were subjected to Single-Strand Conformation Polymorphism (SSCP) technique. The results showed the presence of two genotypes GG and AG in the tested animals. The frequencies of both genotypes varied among the three tested breeds with the highest frequencies of GG genotype in all tested goat breeds. The sequence analysis of PCR products representing these two detected genotypes declared the presence of an SNP (single nucleotide polymorphisms) substitution (G/A) among G and A alleles of this gene. The association between different LF genotypes and milk composition as well as body measurement was estimated. The comparison showed that the animals possess AG genotypes are superior over those with GG genotypes for different parameters of milk protein compositions and skeletal structures. This finding declared that allele A of LF gene is considered the promising marker for the productive traits in goat. In conclusion, the Egyptian goat breeds will be needed to enhance their milk protein composition and growth trait parameters through the increasing of allele A frequency in their herds depending on the superior production traits of this allele in goats.

Keywords: lLactoferrin gene, PCR-SSCP, SNPs, Egyptian goat

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Authors: Kittitara Chunlakittiphan, Patompong Satapornpong

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

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

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Authors: Brahim Ouzaka, Said Ouhadi

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Family businesses (FB) represent the oldest and most resilient form of organization. However, they are weakened by problems of entrepreneurial discontinuity. The objective of this paper is to analyze the problem of the succession of FBs created by senior entrepreneurs. This study analyzes and explores the constructs of senior entrepreneurship and the strategy and takeover policies of the Moroccan Family owned Small and Medium-Sized Businesses. Our main research question is formulated as follows: how does senior entrepreneurship promote the takeover of Moroccan family SMEs? So we aim through this study to analyze the challenge of the takeover of the FB created by senior entrepreneurs in order to explore and understand the specificities, choices and strategies as well as the reality of the takeover process among this category of senior entrepreneurs. After a review of the literature on the relationship between the constructs of senior entrepreneurship and the takeover of FBs, the empirical study will consist of an exploratory qualitative approach of 3 family SMEs created by senior entrepreneurs and subsequently transmitted to their descendants. This qualitative research serves to explore the choices, the strategies as well as the specificities of the entrepreneurial acts and processes of this category of entrepreneurs. The interviews were conducted with senior entrepreneurs and successors of three Moroccan family SMEs, focusing on the specificity of entrepreneurial actions and strategies in the case of SMEs launched by senior entrepreneurs and on the reality of the conduct and preparation of the takeover process, the methods of socialization and training of buyers in the context of these companies.

Keywords: senior entrepreneurship, family SME, family business, takeover

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Authors: G. Blanco-Lizana, C. García-Fernández, J. A. Sánchez

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Growth is a productive trait regulated by a large and complex gene network with very different effect. Some of they (candidate genes) have a higher effect and are excellent resources to search in them polymorphisms correlated with differences in growth rates. This study was focused on the identification of single nucleotide polymorphism (SNP) in MyoD-1 and MyoD-2 genes, members of the family of myogenic regulatory genes with a key role in the differentiation and development of muscular tissue.(MFRs), and its evaluation as potential markers in genetic selection programs for growth in gilthead sea bream (Sparus aurata). Through a sequencing in 30 seabream (classified as unrelated by microsatellite markers) of 1.968bp in MyoD-1 gene [AF478568 .1] and 1.963bp in MyoD-2 gene [AF478569.1], three SNPs were identified in each gene (SaMyoD-1 D2100A (D indicate a deletion) SaMyoD-1 A2143G and SaMyoD-1 A2404G and SaMyoD-2_A785C, SaMyoD-2_C1982T and SaMyoD-2_A2031T). The relationships between SNPs and body weight were evaluated by SNP genotyping of 53 breeders from two broodstocks (A:18♀-9♂; B:16♀-10♂) and 389 offspring divided into two groups (slow- and fast-growth) with significant differences in growth at 18 months of development (A18Slow: N=107, A18Fast: N=103, B18Slow: N=92 and B18Fast: N=87) (Borrell et al., 2011). Haplotype and diplotype were reconstructed from genotype data by Phase 2.1 software. Differences among means of different diplotypes were calculated by one-way ANOVA followed by post-hoc Tukey test. Association analysis indicated that single SNP did not show significant effect on body weight. However, when the analysis is carried out considering haplotype data it was observed that the DGG haplotipe of MyoD-1 gen and CCA haplotipe of MyoD- 2gen were associated to with lower body weight. This haplotype combination always showed the lowest mean body weight (P<0.05) in three (A18Slow, A18Fast & B18Slow) of the four groups tested. Individuals with DGG haplotipe of MyoD-1 gen have a 25,5% and those with CCA haplotipe of MyoD- 2gen showed 14-18% less on mean body weight. Although further studies are need to validate the role of these 3 SNPs as marker for body weight, the polymorphism-trait association established in this work create promising expectations on the use of these variants as genetic tool for future giltead seabream breeding programs.

Keywords: growth, MyoD-1 and MyoD-2 genes, selective breeding, SNP-haplotype

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Authors: Roudabeh Vakil Monfared, Farhad Mashayekhi

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Breast cancer is the most common malignancy type among women with about 1 million new cases each year. The immune system plays an important role in the breast cancer development. OX40L (also known as TNFSF4), a membrane protein, which is a member of the tumor necrosis factor super family binds to its receptor OX40 and this co-stimulation has a crucial role in T-cell proliferation, survival and cytokine release. Due to the importance of the T-cells in anti-tumor activities of OX40L we studied the association of rs3850641 (T→C) polymorphism of OX40L gene with breast cancer. The study included 123 women with breast cancer and 126 healthy volunteers with no signs of cancer. Genomic DNA was extracted from blood leucocytes. Genotype and allele frequencies were determined in patients and control cases with the method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the analysis was performed by Med Calc. The prevalence of genotype frequencies of TT, CT and CC were 60.9%, 30.08% and 8.9 % in patients with breast cancer and 74.6 %, 18.25 % and 7.14 % in healthy volunteers while the T and C allelic frequency was 76.01% and 23.98 % in patients and 83.73% and 16.26% in healthy controls. Respectively Statistical analysis has shown no significant difference from the comparison of either genotype (P=0.06). According to these results, the rs3850641 SNP has no association with the susceptibility of breast cancer in a population in northern Iran. However, further studies in larger populations including other genetic and environmental factors are required to achieve conclusion.

Keywords: OX40L, gene, polymorphism, breast cancer

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Authors: Marietta Kékes Szabó

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The patterns of personality (mal)function and the individuals’ psychosocial environment influence the healthy status collectively and may lie in the background of psychosomatic disorders. Although the patients with their diversified symptoms usually do not have any organic problems, the experienced complaint, the fear of serious illness and the lack of social support often lead to increased anxiety and further enigmatic symptoms. The role of the family system and its atmosphere seem to be very important in this process. More studies explored the characteristics of dysfunctional family organization: inflexible family structure, hidden conflicts that are not spoken about by the family members during their daily interactions, undefined role boundaries, neglect or overprotection of the children by the parents and coalition between generations. However, questionnaires that are used to measure the properties of the family system are able to explore only its unit and cannot pay attention to the dyadic interactions, while the representation of the family structure by a figure placing test gives us a new perspective to better understand the organization of the (sub)system(s). Furthermore, its dynamic form opens new perspectives to explore the family members’ joint representations, which gives us the opportunity to know more about the flexibility of cohesion and hierarchy of the given family system. In this way, the communication among the family members can be also examined. The aim of my study was to collect a great number of information about the organization of psychosomatic families. In our research we used Gehring’s Family System Test (FAST) both in static and dynamic forms to mobilize the family members’ mental representations about their family and to get data in connection with their individual representations as well as cooperation. There were four families in our study, all of them with a young adult person. Two families with healthy participants and two families with asthmatic patient(s) were involved in our research. The family members’ behavior that could be observed during the dynamic situation was recorded on video for further data analysis with Noldus Observer XT 8.0 program software. In accordance with the previous studies, our results show that the family structure of the families with at least one psychosomatic patient is more rigid than it was found in the control group and the certain (typical, ideal, and conflict) dynamic representations reflected mainly the most dominant family member’s individual concept. The behavior analysis also confirmed the intensified role of the dominant person(s) in the family life, thereby influencing the family decisions, the place of the other family members, as well as the atmosphere of the interactions, which could also be grasped well by the applied methods. However, further research is needed to learn more about the phenomenon that can open the door for new therapeutic approaches.

Keywords: psychosomatic families, family structure, family system test (FAST), static and dynamic representations, behavior analysis

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Authors: Tai-Young Park, Yangjin Park

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Introduction: This study analyzed a family therapy case involving a female client in her thirties with panic disorder (PD) in South Korea. We identified five stages of the psychological process in the development of PD and examined external situations, family dynamics, and psychological experiences at each stage. Method: The client, mother, sister, and husband participated in therapy. Researchers analyzed the transcripts, notes, and video recordings of the therapy sessions. A thematic analysis was used to examine the data and display our findings using a network. Results: The developmental process of PD was as follows: (1) formation of anxiety, (2) sheltered life, (3) crisis, (4) loss of safe haven, and (5) inner breakdown. Conclusion: The family dynamics that developed as a result of coping with external situations in each stage contributed to clients’ psychological experiences. These psychological experiences triggered anxiety, which led to the development of PD. Moreover, this study empirically suggests that family dynamics can be associated with a person’s internal experiences that could lead to PD. Our findings highlight the significance of functional family dynamics and coping patterns when facing difficult external situations or crises.

Keywords: developmental process, family therapy, panic disorder, psychological dynamics

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Authors: Manaphol Kulpraneet, Anirut Limtrakul, Surangrat Srisurapanon, Piyatida Tangteerawatana

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Tuberculosis (TB) remains a global health care disease world-wide. Control of the global TB epidemic has been impaired by the lack of an effective vaccine, by the emergence of drug resistant forms of Mycobacterium tuberculosis and by lack of sensitive and rapid diagnostics. Cytokines play a major role in defense against M. tuberculosis infection. Polymorphisms in the genes encoding various cytokines have been associated with tuberculosis susceptibility. Polymorphisms of the regulatory cytokine gene, the interleukin (IL)-10 is associated with the risk of tuberculosis (TB) in different populations. However, IL-10 gene polymorphism and susceptibility to TB in Thai is still unknown. The purpose of this study was to evaluate whether the common IL-10 promoter gene polymorphisms are associated with TB in Thai population. Forty eight patients with newly diagnosed pulmonary tuberculosis were studied. DNA samples were extracted from leukocytes and used to investigate -1087A/G, -819C/T, -252C/A (rs1800896, rs1800871, rs1800872) in IL-10 gene using restriction fragment length polymorphism (PCR-RFLP) methods. In this study, the genotype and allele frequencies of IL-10-1087A/G, -819C/T, -252C/A polymorphism did not significantly different between TB patients and healthy controls ((genotype: p=0.38, p=0.92, p=1; allele: p=0.57, p=0.77, p=0.89, respectively). The lack of association between common IL-10 promoter polymorphisms and TB susceptibility in this study may provide clue for better understanding of IL-10-1087A/G, -819C/T, -252C/A polymorphism and TB susceptibility in Thai population, which might facilitate the rationale design of vaccines. However, further studies in large scales population are required for confirmation.

Keywords: IL-10, cytokines, single nucleotide polymorphism (SNP), tuberculosis

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Authors: Cecilia Fagerstrom, Solve Elmstahl, Lena S. Wranker

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The conditions of increased morbidity in an aging population cause the need for family care to become more common at an advanced age. The role of family caregivers may well last for a long time but may also change over time, from being caregivers to being non-caregivers or vice versa. Although demands associated with family caring change as individuals enter into, engage with, and exit from this role, the evidence regarding the impact of family caregiving transitions on the health of older carers is still limited. This study comprised individuals (n=2294, 60+years) from the southern part of Sweden included in the project Swedish National study of Aging and Care. Caregiving transitions are discussed in the categories: enter, exit, and continuing during a six-year period. Individuals who exited caregiving during the time were older than those who continued or entered into the role of caregiving. At the six-year follow-up, caregivers who were continuing or had exited caregiving were more often worried about their own health compared to baseline. Resembling findings were not found in those who entered caregiving. Family caregiving transitions of exiting, entering or continuing had no effect on the individuals’ functional, physical and mental health expect for participants who entered in caregiving. For them, entering the role of family caregiving was associated with an improvement in physical health during the six years follow up period. Conclusion: Although the health impact of different caregiving transitions in late life does not differ, individual conditions and health at baseline are important parameters to take into consideration to improve long-term health in family caregivers.

Keywords: family caregiving, health, old age, transition

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Authors: Ibrahim A. Alkali

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There is no reservation on the outstanding contribution of patient families in restoration of hospitalised patients, hence their consideration as essential component of hospital ward regimen. The psychological and emotional support a patient requires has been found to be solely provided by the patient’s family. However, consideration of their presence as one of the major functional requirements of an inpatient setting design have always been a source of disquiet, especially in developing countries where policies, norms and protocols of healthcare administration have no consideration for the patients’ family. This have been a major challenge to the hospital ward facilities, a concern for the hospital administration and patient management. The study therefore is aimed at obtaining a consensus opinion on the best approach for family integration in the design of an inpatient setting.  A one day visioning charrette involving Architects, Nurses, Medical Doctors, Healthcare assistants and representatives from the Patient families was conducted with the aim of arriving at a consensus opinion on practical design approach for sustainable family integration. Patient’s family are found to be decisive character of hospital ward regimen that cannot be undermined. However, several challenges that impede family integration were identified and subsequently a recommendation for an ideal approach. This will serve as a guide to both architects and hospital management in implementing much desired Patient and Family Centred Care.

Keywords: patient's family, inpatient setting, care giving, integration

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Authors: Arpan Upadhyaya, Sunaina Kuknor

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The paper examines the succession management strategies and the preparation level of heirs in the context of family-owned educational institutions in Nepal. Sixteen in-depth, semi-structured interviews with the institution's leader were conducted. The study's findings show the lack of awareness about the importance of succession planning among the institution owners due to the availability of limited resources. The paper also provides some insights into how family ownership and management are done and the lack of formal processes in succession management strategies. It will aid researchers in considering the societal perspective of the successor, which is also a significant worry.

Keywords: effective plans, family business, interest, leadership, successor

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Authors: Tripureshwari Paul

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We are born with nature molded by nurture. Studies have confirmed the productive role of genes and environment on an individual. This study examines the relationship of parental genotype values on the intellectual ability of their children. Keeping in mind that academic achievement-learning capacity of student through normative education, a function of exposure to family environment and pathology with intellectual quotient of the individual. Purposive sampling was used and children between ages 11 and 12 years and their respective parents were involved. Raven’s Standard Progressive Matrices (RSPM), Family Pathology Scale (FPS) and Family Environment Scale (FES) were administered. The results found significant relationship of Offspring IQ to Parental IQ, maternal IQ demonstrating higher values of correlation. Female IQ was significant to maternal IQ and male IQ was significant to paternal IQ. With Academic Achievement not significantly correlated to IQ, it was determined that Competitive framework, freedom to expression and Recreational Orientation in family affect a child’s intellectual performance.

Keywords: academic achievement, environment, family environment, family pathology, genotype, intelligence quotient, maternal IQ, paternal IQ

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Authors: Riffat Iqbal, Sidra Ihsan, Andleeb Batool, Maryam Mukhtar

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Glaucoma is a gathering of optic neuropathies described by dynamic degeneration of retinal ganglionic cells. It is clinically and innately heterogenous illness containing a couple of particular forms each with various causes and severities. Primary open-angle glaucoma (POAG) is the most generally perceived kind of glaucoma. This study investigated the genetic association of single nucleotide polymorphisms (SNPs; rs10483727 and rs33912345) at the SIX1/SIX6 locus with primary open-angle glaucoma (POAG) in the Pakistani population. The SIX6 gene plays an important role in ocular development and has been associated with morphology of the optic nerve. A total of 100 patients clinically diagnosed with glaucoma and 100 control individuals of age over 40 were enrolled in the study. Genomic DNA was extracted by organic extraction method. The SNP genotyping was done by (i) PCR based restriction fragment length polymorphism (RFLP) and sequencing method. Significant genetic associations were observed for rs10483727 (risk allele T) and rs33912345 (risk allele C) with POAG. Hence, it was concluded that Six6 gene is genetically associated with pathogenesis of Glaucoma in Pakistan.

Keywords: genotyping, Pakistani population, primary open-angle glaucoma, SIX6 gene

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Authors: Reena Murali, David Peter S.

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The small interfering RNA (siRNA) alters the regulatory role of mRNA during gene expression by translational inhibition. Recent studies shows that up regulation of mRNA cause serious diseases like Cancer. So designing effective siRNA with good knockdown effects play an important role in gene silencing. Various siRNA design tools had been developed earlier. In this work, we are trying to analyze the existing good scoring second generation siRNA predicting tools and to optimize the efficiency of siRNA prediction by designing a computational model using Artificial Neural Network and whole stacking energy (ΔG), which may help in gene silencing and drug design in cancer therapy. Our model is trained and tested against a large data set of siRNA sequences. Validation of our results is done by finding correlation coefficient of experimental versus observed inhibition efficacy of siRNA. We achieved a correlation coefficient of 0.727 in our previous computational model and we could improve the correlation coefficient up to 0.753 when the threshold of whole tacking energy is greater than or equal to -32.5 kcal/mol.

Keywords: artificial neural network, double stranded RNA, RNA interference, short interfering RNA

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Authors: Oluwayemisi O. Alaba, John O. Olaomi

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The 2013 Nigerian Demographic Health Survey (NDHS) data was used to investigate the determinants of family size in Nigeria using the geo-additive model. The fixed effect of categorical covariates were modelled using the diffuse prior, P-spline with second-order random walk for the nonlinear effect of continuous variable, spatial effects followed Markov random field priors while the exchangeable normal priors were used for the random effects of the community and household. The Negative Binomial distribution was used to handle overdispersion of the dependent variable. Inference was fully Bayesian approach. Results showed a declining effect of secondary and higher education of mother, Yoruba tribe, Christianity, family planning, mother giving birth by caesarean section and having a partner who has secondary education on family size. Big family size is positively associated with age at first birth, number of daughters in a household, being gainfully employed, married and living with partner, community and household effects.

Keywords: Bayesian analysis, family size, geo-additive model, negative binomial

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Authors: Hajar Hosseini Khorami

Abstract:

Porphyrins are organic, aromatic compounds found in heme, cytochrome, cobalamin, chlorophyll , and many other natural products with essential roles in biological processes that their cationic forms have been used as groups of favorable non-viral vectors recently. Cationic porphyrins are self-chromogenic reagents with a high capacity for modifications, great interaction with DNA and protection of DNA from nuclease during delivery of it into a cell with low toxicity. In order to have high efficient gene transfection into the cell while causing low toxicity, genetically manipulations of the non-viral vector, cationic porphyrin, would be useful. In this study newly modified cationic porphyrin derivative, 5, 10-dihexyl-15, 20bis (N-methyl-4-pyridyl) porphyrin was applied. Cytotoxicity of synthesized cationic porphyrin on Chinese Hamster Ovarian (CHO) cells was evaluated by using MTT assay. This cationic derivative is dose-dependent, with low cytotoxicity at the ranges from 100 μM to 0.01μM. It was uptake by cells at high concentration. Using direct non-viral gene transfection method and different concentration of cationic porphyrin were tested on transfection of CHO cells by applying derived transfection reagent with X-tremeGENE HP DNA as a positive control. However, no transfection observed by porphyrin derivative and the parameters tested except for positive control. Results of this study suggested that applying different protocol, and also trying other concentration of cationic porphyrins and DNA for forming a strong complex would increase the possibility of efficient gene transfection by using cationic porphyrins.

Keywords: cationic porphyrins, gene delivery, non-viral vectors, transfection reagents

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Authors: Busra Mutlu Ipek, Merve Mutlu, Ahmet Mutlu

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Novel coronavirus COVID-19, which has recently influenced the world, poses a great threat to humanity. In order to overcome this challenging situation, scientists are working on developing effective vaccine against coronavirus. Many experts and researchers have also produced articles and done studies on this highly important subject. In this direction, this special topic was chosen for article to make a contribution to this area. The purpose of this article is to perform RNA sequence analysis of selected virus forms in the Coronaviridae family and predict/classify SARS-CoV-2 (COVID-19) from other selected complete genomes in coronaviridae family using proposed Artificial Neural Network(ANN) algorithm.

Keywords: Coronaviridae family, COVID-19, RNA sequencing, ANN, neural network

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Authors: Anshita Sharma

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India is one of the countries to initiate family planning with intention to control the growing population by reducing fertility. In effort to this, India had introduced the National family planning programme in 1952. The level of unmet need in India shows a reducing trend with increasing effectiveness of family planning services as in NFHS-1 the unmet need for limiting, spacing and total was 46 percent, 14 percent & 9 percent, respectively. The demand for spacing has reduced to at 8 percent, 8 percent for limiting and total unmet need was 16 percent in NFHS-2. The total unmet need has reduced to 13 percent in NFHS-3 for all currently married women and the demand for limiting and spacing is 7 percent and 6 percent respectively. The level of unmet need in India shows a reducing trend with increasing effectiveness of family planning services. Despite the progress, there is chunk of women who are deprived of controlling unintended and unwanted pregnancies. The present paper examines the socio-cultural and economic and demographic correlates of unmet need for contraception in India. It also examines the effect of women’s autonomy and unmet need for contraception on family size among different socio-economic groups of population. It uses data from national family health survey-3 carried out in 2005-06 and employs bi-variate techniques and multivariate techniques for analysis. The multiple regression analysis has done to seek the level and direction of relationship among various socio-economic and demographic factors. The result reveals that women with higher level of education and economic status have low level of unmet need for family planning. Women living in non-nuclear family have high unmet need for spacing and women living in nuclear family have high unmet need for limiting and family size is slightly higher of women of nuclear family. In India, the level of autonomy varies at different life point; usually women with higher age enjoy higher autonomy than their junior female member in the family. The finding shows that women with higher autonomy have large family size counter to women with low autonomy have low family size. Unmet need for family planning decrease with women’s increasing exposure to mass- media. The demographic factors like experience of child loss are directly related to family size. Women who experience higher child loss have low unmet need for spacing and limiting. Thus, It is established with the help that women’s autonomy status play substantial role in fulfilling demand of contraception for limiting and spacing which affect the family size.

Keywords: family size, socio-economic correlates, unmet need for limiting, unmet need for spacing, women`s autonomy

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Authors: Ngoc Tu Truong, Nuong T. Bui, Ben Rao, Ya L. Shen

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Quorum sensing is a phenomenon present in many gram-negative bacteria that allows bacterial communication and controlled expression of a large suite of genes through quorum sensing signals - N-acyl homoserine lactones (AHLs). In order to investigate the ability of the rhlR/rhlI quorum sensing system in Pseudomonas aeruginosa to express the ß-Galactosidase reporter gene, an engineered E. coli strain EpHL02, was genetically engineered. This engineered E. coli strain EpHL02 responded to the presence of the N-butanoyl homoserine lactone and N-hexanoyl homoserine lactone to express the ß-Galactosidase reporter gene at a concentration limit of 5x10⁻⁸ M. This was also found to be comparable to AHLs extraction from Serratia marcescens H31. Moreover, we examined this ability of this engineered E. coli strain for respond of AHLs from extractions of Pseudomonas aeruginosa ATCC9027. The results demonstrated that the rhlR/rhlI quorum sensing system can express the ß-Galactosidase reporter gene by using the N-butanoyl homoserine lactone, N-hexanoyl homoserine lactone and AHLs from extractions of Serratia marcescens H31 and Pseudomonas aeruginosa ATCC9027 in the engineered E. coli strain EpHL02.

Keywords: N-butanoyl homoserine lactone, C4-HSL, N-hexanoyl homoserine lactone, C6-HSL, Pseudomonas aeruginosa, quorum sensing, Serratia marcescens, ß-galactosidase reporter gene

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Authors: Hyeon Su Kim, Sungjin Park, Hae Ryung Chang, Hae Rim Jung, Young Zoo Ahn, Yon Hui Kim, Seungyoon Nam

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Ependymoma, one of the most common parenchymal spinal cord tumor, represents 3-6% of all CNS tumor. Especially intracranial ependymomas, which are more frequent in childhood, have a more poor prognosis and more malignant than spinal ependymomas. Although there are growing needs to understand pathogenesis, detailed molecular understanding of pathogenesis remains to be explored. A cancer cell is composed of complex signaling pathway networks, and identifying interaction between genes and/or proteins are crucial for understanding these pathways. Therefore, we explored each ependymoma in terms of differential expressed genes and signaling networks. We used Microsoft Excel™ to manipulate microarray data gathered from NCBI’s GEO Database. To analyze and visualize signaling network, we used web-based PATHOME algorithm and Cytoscape. We show HOX family and NEFL are down-regulated but SCL family is up-regulated in cerebrum and posterior fossa cancers over a spinal cancer, and JAK/STAT signaling pathway and Chemokine signaling pathway are significantly different in the both intracranial ependymoma comparing to spinal ependymoma. We are considering there may be an age-dependent mechanism under different histological pathogenesis. We annotated mutation data of each gene subsequently in order to find potential target genes.

Keywords: systems biology, ependymoma, deg, network analysis

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Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar

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Obesity is a non-communicable disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely the fat mass and obesity associated (FTO) gene SNP rs9939609 and Vitamin D Receptor (VDR) gene SNP rs1544410, with obesity in the UAE population. Methods: This is a case-control study in which 414 individuals were enrolled during their routine visit to endocrinology clinics in Abu Dhabi, United Arab Emirates between the period of June 2012 and December 2013. Several biochemical tests and clinical assessments along with a lifestyle questionnaire for each participant were completed at the clinic. Genomic DNA was extracted from saliva samples of 201 obese, 114 overweight and 99 normal subjects. Genotyping for the variants was performed using TaqMan assay. Results: The mean Body Mass Index (BMI) ± SD for the obese, overweight, and normal subjects was 35.76 ± 4.54, 27.53 ± 1.45 and 22.69 ± 1.84 kg/m2, respectively. Increasing BMI values were associated with an increase in values for systolic blood pressure, diastolic blood pressure, HbA1c, and triglycerides. The SNP rs9939609 in the FTO gene was found to be significantly associated with the BMI (p=0.028), with the minor allele A having a clear additive effect on BMI values. No significant association was detected between BMI and rs1544410 of the VDR gene. Conclusions: Our study findings indicate that the minor allele A of the rs9939609 has a significant association with increasing BMI values. In addition, our findings support the fact that increasing BMI is associated with increasing risks of other comorbidities such as higher blood pressure, poorer glycemic control and higher triglycerides.

Keywords: body mass index, FTO gene, obesity, rs9939609, United Arab Emirates

Procedia PDF Downloads 203