Search results for: predisposition

Authors: Hala Raslan, Noha Eltaweel, Hanaa Rasmi, Solaf Kamel, May Magdy, Sherif Ismail, Khalda Amr

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Introduction: Rheumatoid arthritis (RA) is an inflammatory, autoimmune disorder with progressive joint damage. Osteoarthritis (OA) is a degenerative disease of the articular cartilage that shows multiple clinical manifestations or symptoms resembling those of RA. Genetic predisposition is believed to be a principal etiological factor for RA and OA. In this study, we aimed to measure the expression of the top deregulated miRNAs that might be the cause of pathogenesis in both diseases, according to our latest NGS analysis. Six of the deregulated miRNAs were selected as they had multiple target genes in the RA pathway, so they are more likely to affect the RA pathogenesis.Methods: Eighty cases were recruited in this study; 45 rheumatoid arthiritis (RA), 30 osteoarthiritis (OA) patients, as well as 20 healthy controls. The selection of the miRNAs from our latest NGS study was done using miRwalk according to the number of their target genes that are members in the KEGG RA pathway. Total RNA was isolated from plasma of all recruited cases. The cDNA was generated by the miRcury RT Kit then used as a template for real-time PCR with miRcury Primer Assays and the miRcury SYBR Green PCR Kit. Fold changes were calculated from CT values using the ΔΔCT method of relative quantification. Results were compared RA vs Controls and OA vs Controls. Target gene prediction and functional annotation of the deregulated miRNAs was done using Mienturnet. Results: Six miRNAs were selected. They were miR-15b-3p, -128-3p, -194-3p, -328-3p, -542-3p and -3180-5p. In RA samples, three of the measured miRNAs were upregulated (miR-194, -542, and -3180; mean Rq= 2.6, 3.8 and 8.05; P-value= 0.07, 0.05 and 0.01; respectively) while the remaining 3 were downregulated (miR-15b, -128 and -328; mean Rq= 0.21, 0.39 and 0.6; P-value= <0.0001, <0.0001 and 0.02; respectively) all with high statistical significance except miR-194. While in OA samples, two of the measured miRNAs were upregulated (miR-194 and -3180; mean Rq= 2.6 and 7.7; P-value= 0.1 and 0.03; respectively) while the remaining 4 were downregulated (miR-15b, -128, -328 and -542; mean Rq= 0.5, 0.03, 0.08 and 0.5; P-value= 0.0008, 0.003, 0.006 and 0.4; respectively) with statistical significance compared to controls except miR-194 and miR-542. The functional enrichment of the selected top deregulated miRNAs revealed the highly enriched KEGG pathways and GO terms. Conclusion: Five of the studied miRNAs were greatly deregulated in RA and OA, they might be highly involved in the disease pathogenesis and so might be future therapeutic targets. Further functional studies are crucial to assess their roles and actual target genes.

Keywords: MiRNAs, expression, rheumatoid arthritis, osteoarthritis

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Authors: Fouad Chebib, Marie Hogan, Ziad El-Zoghby, Maria Irazabal, Sarah Senum, Christina Heyer, Charles Madsen, Emilie Cornec-Le Gall, Atta Behfar, Barbara Ehrlich, Peter Harris, Vicente Torres

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Background: Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a systemic disease associated with several extrarenal manifestations. Animal models have suggested an important role for the polycystins in cardiovascular function. The aim of the current study is to evaluate the association of various cardiomyopathies in a large cohort of patients with ADPKD. Methods: Clinical data was retrieved from medical records for all patients with ADPKD and cardiomyopathies (n=159). Genetic analysis was performed on available DNA by direct sequencing. Results: Among the 58 patients included in this case series, 39 patients had idiopathic dilated cardiomyopathy (IDCM), 17 had hypertrophic obstructive cardiomyopathy (HOCM), and 2 had left ventricular noncompaction (LVNC). The mean age at cardiomyopathy diagnosis was 53.3, 59.9 and 53.5 years in IDCM, HOCM and LVNC patients respectively. The median left ventricular ejection fraction at initial diagnosis of IDCM was 25%. Average basal septal thickness was 19.9 mm in patients with HOCM. Genetic data was available in 19, 8 and 2 cases of IDCM, HOCM, and LVNC respectively. PKD1 mutations were detected in 47.4%, 62.5% and 100% of IDCM, HOCM and LVNC cases. PKD2 mutations were detected only in IDCM cases and were overrepresented (36.8%) relative to the expected frequency in ADPKD (~15%). The prevalence of IDCM, HOCM, and LVNC in our ADPKD clinical cohort was 1:17, 1:39 and 1:333 respectively. When compared to the general population, IDCM and HOCM was approximately 10-fold more prevalent in patients with ADPKD. Conclusions: In summary, we suggest that PKD1 or PKD2 mutations may predispose to idiopathic dilated or hypertrophic cardiomyopathy. There is a trend for patients with PKD2 mutations to develop the former and for patients with PKD1 mutations to develop the latter. Predisposition to various cardiomyopathies may be another extrarenal manifestation of ADPKD.

Keywords: autosomal dominant polycystic kidney (ADPKD), polycystic kidney disease, cardiovascular, cardiomyopathy, idiopathic dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction

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Authors: Henda J Thomas, Cornelia PJ Harmse, Cecile Schultz

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Wearables are one of the technologies that will flourish within the fourth industrial revolution and digital transformation arenas, allowing employers to integrate collected data into organisational information systems. The study aimed to investigate whether wearable technology readiness can predict employees’ acceptance to wear wearables in the workplace. The factors of technology readiness predisposition that predict acceptance and positive attitudes towards wearable use in the workplace were examined. A quantitative research approach was used. The population consisted of 8 081 South African Department of Employment and Labour employees (DEL). Census sampling was used, and questionnaires to collect data were sent electronically to all 8 081 employees, 351 questionnaires were received back. The measuring instrument called the Technology Readiness and Acceptance Model (TRAM) was used in this study. Four hypotheses were formulated to investigate the relationship between readiness and acceptance of wearables in the workplace. The results found consistent predictions of technology acceptance (TA) by eagerness, optimism, and discomfort in the technology readiness (TR) scales. The TR scales of optimism and eagerness were consistent positive predictors of the TA scales, while discomfort proved to be a negative predictor for two of the three TA scales. Insecurity was found not to be a predictor of TA. It was recommended that the digital transformation policy of the DEL should be revised. Wearables in the workplace should be embraced from the viewpoint of convenience, automation, and seamless integration with the DEL information systems. The empirical contribution of this study can be seen in the fact that positive attitude emerged as a factor that extends the TRAM. In this study, positive attitude is identified as a new dimension to the TRAM not found in the original TA model and subsequent studies of the TRAM. Furthermore, this study found that Perceived Usefulness (PU) and Behavioural Intention to Use and (BIU) could not be separated but formed one factor. The methodological contribution of this study can lead to the development of a Wearable Readiness and Acceptance Model (WRAM). To the best of our knowledge, no author has yet introduced the WRAM into the body of knowledge.

Keywords: technology acceptance model, technology readiness index, technology readiness and acceptance model, wearable devices, wearable technology, fourth industrial revolution

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Authors: Piotr Podlipniak

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Social consolidation has often been indicated as an adaptive function of music which led to the evolution of music faculty. According to many scholars this function is possible thanks to musical rhythm that enables sensorimotor synchronization to a musical beat. The ability to synchronize to music allows performing music collectively which enhances social cohesion. However, the collective performance of music consists also in spectral synchronization that depends on musical pitch structure. Similarly to rhythmic synchronization, spectral synchronization is a result of ‘brain states alignment’ between people who collectively listen to or perform music. In order to successfully synchronize pitches performers have to adequately expect the pitch structure. The most common form of music which predominates among all human societies is tonal music. In fact tonality understood in the broadest sense as such an organization of musical pitches in which some pitch is more important than others is the only kind of musical pitch structure that has been observed in all currently known musical cultures. The perception of such a musical pitch structure elicits specific emotional reactions which are often described as tensions and relaxations. These facts provoke some important questions. What is the evolutionary reason that people use pitch structure as a form of vocal communication? Why different pitch structures elicit different emotional states independent of extra-musical context? It is proposed in the current presentation that in the course of evolution pitch structure became a human specific tool of communication the function of which is to induce emotional states such as uncertainty and cohesion. By the means of eliciting these emotions during collective music performance people are able to unconsciously give cues concerning social acceptance. This is probably one of the reasons why in all cultures people collectively perform tonal music. It is also suggested that tonal pitch structure had been invented socially before it became an evolutionary innovation of Homo sapiens. It means that a predisposition to tonally organize pitches evolved by the means of ‘Baldwin effect’ – a process in which natural selection transforms the learned response of an organism into the instinctive response. The hypothetical evolutionary scenario of the emergence of tonal pitch structure will be proposed. In this scenario social forces such as a need for closer cooperation play the crucial role.

Keywords: emotion, evolution, tonality, social consolidation

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Authors: Cherres Sara, Cajas Diego

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This paper explores how EFL teachers understand the process of Lesson Study in Ecuadorian schools and the challenges and opportunities that it brings to the improvement of their teaching practice. Using a narrative research methodology, this study presents the results of the application of the four steps of Lesson Study carried out by seven teachers in four different schools located in the Southern part of Ecuador during four months. Before starting the implementation of the lesson study, 30 teachers were trained on this model. This training was opened to EFL teachers working in public and private schools without any charge. The criteria to select these teachers were first, to be minimum a one-year in-service teacher, second, to have a b2 level of English, and third, to be able to commit to follow the course guidelines. After the course, seven teachers decided to continue with the implementation of the Lesson Study in their respective institutions. During the implementation of the Lesson Study, data was collected through observations, in-depth interviews and teachers’ planning meetings; and analyzed using a thematic analysis. The results of this study are presented using the lenses of seven EFL teachers that explained the challenges and opportunities that the implementation of Lesson Study conveyed. The challenges identified were the limited capacity of reflection and recognition of the activities that required improvement after the class, limited capacity to provide truthful peer feedback, teachers wrong notions about their performance in their classes, difficulties to follow a collaborative lesson plan; and, the disconnection between class activities and the class content. The opportunities identified were teachers’ predisposition to collaborate, teachers’ disposition to attend professional development courses, their commitment to work extra hours in planning meetings, their openness and their desired to be observed in their classes; and, their willingness to share class materials and knowledge. On the other hand, the results show that there is a disconnection between teachers’ knowledge of ELT and its proper application in class (from theory to practice). There are also, rigid institutional conceptions of teaching that do not allow teaching innovations. The authors concluded that there is a disconnection between teachers’ knowledge of ELT and its proper application in class (from theory to practice). There are also, rigid institutional conceptions of teaching that do not allow teaching innovations for example: excessive institutional paperwork and activities that are not connected to the development of students’ competences.

Keywords: ELT, lesson study, teachers’ professional development, teachers’ collaboration

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Authors: John Michael Weber

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The following research results spanned six months and 175 people addicted to some form of substance, from alcohol to heroin. One question was asked, and the answers were amazing and consistent. The following work is the detailed results of this writer’s answer to his own question and the 175 that followed. A constant pattern took shape throughout the bio-psycho-social assessments, these addicts had “first memories,” the memories were vivid and took place between the ages of three to six years old, to a person those first memories were traumatic. This writer’s personal search into his childhood was not to find an excuse for the way he became, but to explain the reason for becoming an addict. To treat addiction, these memories that have caused Post Traumatic Stress Disorder (PTSD), must be recognized as the catalyst that sparked a predisposition. Cognitive Behavioral Therapy (CBT), integrated with treatment specifically focused on PTSD, gives the addict a better chance at recovery sans relapse. This paper seeks to give the findings of first memories of the addicts assessed and provide the best treatment plan for such an addict, considering, the childhood trauma in congruence with treatment of the Substance Use Disorder (SUD). The question posed was concerning what their first life memory wa It is the hope of this author to take the knowledge that trauma is one of the main catalysts for addiction, will allow therapists to provide better treatment and reduce relapse from abstinence from drugs and alcohol. This research led this author to believe that if treatment of childhood trauma is not a priority, the twelve steps of Alcoholics Anonymous, specifically steps 4 and 5, will not be thoroughly addressed and odds for relapse increase. With this knowledge, parents can be educated on childhood trauma and the effect it has on their children. Parents could be mindful of the fact that the things they perceive as traumatic, do not match what a child, in the developmental years, absorbs as traumatic. It is this author’s belief that what has become the status quo in treatment facilities has not been working for a long time. It is for that reason this author believes things need to change. Relapse has been woven into the fabric of standard operating procedure and that, in this authors view, is not necessary. Childhood Trauma is not being addressed early in recovery and that creates an environment of inevitable relapse. This paper will explore how to break away from the status -quo and rethink the current “evidencebased treatments.” To begin breaking away from status-quo, this ends the Abstract, with hopes an interest has been peaked to read on.

Keywords: childood, trauma, treatment, addiction, change

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Authors: Dianne Lyneth Alavado

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At the turn of the millennium, development paradigms in the international scene revolved around one goal: elimination of global poverty without comprising human rights. One measure which achieved high endorsement and visibility in the world of work is the Decent Work Agenda (DWA) championed by the United Nation’s (UN) specialized agency for work, the International Labour Organization (ILO). The DWA has been thoroughly promoted and recommended as an ingredient of development planning and a poverty reduction strategy, particularly in developing countries such as the Philippines. The global imperative of economic growth is measurable not only in the numbers raked in by countries in terms of expanding economy but also by the development and realization of the full capacities of their people. Decent work (DW), as an outcome and not just a development approach, promises poverty eradication by means of providing both quantity and quality work that is accompanied by rights, representation, and protection. As a party to these international pacts, the Philippines is expected to heed the call towards a world free from poverty through well-endorsed measures such as the DWA with the aid of multilateral and donor organizations such as the ILO. This study aims to assess the capacity and readiness of the Philippines to achieve the goals of the DWA. This is a qualitative research using the sociological and juridical lens in the desk analysis of existing Philippine laws, policies, and programs vis-à-vis decent work indicators set forth by the ILO. Interview with experts on the Philippine labor situation is conducted for further validation. The paper identifies gaps within the Philippine legal system and its collection of laws, acts, presidential decrees, department orders and other policy instruments aimed towards achieving the goals of the DWA. Among the major findings of this paper are: the predisposition of Philippine labor laws towards the formal sector; the need for alternative solutions for the informal sector veering away from the usual dole-outs and livelihood projects; the needs for evaluation of policies and programs that are usually self-evaluated; the minimal reach of the labour inspectorate which ensures decent work; and the lack of substantial penalty for non-compliance with labor laws. The paper concludes with policy implications and recommendations towards addressing the potholes on the road to Decent Work.

Keywords: decent work agenda, labor laws, millennium development goals, poverty eradication, sustainable development goal

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Authors: E. H. Szeto, E. Ammendola, J. V. Tabares, A. Starkey, J. Hay, J. G. McClung, C. J. Bryan

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Introduction: Suicide is a leading cause of death globally, which accounts for more deaths annually than war, acquired immunodeficiency syndrome, homicides, and car accidents, while an estimated 140 million individuals have significant suicide ideation (SI) each year in the United States. Typical risk factors such as hopelessness, depression, and psychiatric disorders can predict suicide ideation but cannot distinguish between those who ideate from those who attempt suicide (SA). The Fluid Vulnerability Theory of suicide posits that a person’s activation of the suicidal mode is predicated on one’s predisposition, triggers, baseline/acute risk, and protective factors. The current study compares self-conscious cognitive-affective states (including guilt, shame, anger towards the self, and suicidal beliefs) among patients based on the endorsement of recent SI (i.e., past two weeks; acute risk) and lifetime SA (i.e., baseline risk). Method: A total of 2,722 individuals in an outpatient primary care setting were included in this cross-sectional, observational study; data for 2,584 were valid and retained for analysis. The Differential Emotions Scale measuring guilt, shame, and self-anger and the Suicide Cognitions Scale measuring suicide cognitions were administered. Results: A total of 2,222 individuals reported no recent SI or lifetime SA (Group 1), 161 reported recent SI only (Group 2), 145 reported lifetime SA only (Group 3), 56 reported both recent SI and lifetime SA (Group 4). The Kruskal-Wallis test showed that guilt, shame, self-anger, and suicide cognitions were the highest for Group 4 (both recent SI and lifetime SA), followed by Group 2 (recent SI-only), then Group 3 (lifetime SA-only), and lastly, Group 1 (no recent SI or lifetime SA). Conclusion: The results on recent SI-only versus lifetime SA-only contribute to the literature on the Fluid Vulnerability Theory of suicide by capturing SI and SA in two different time periods, which signify the acute risks and chronic baseline risks of the suicidal mode, respectively. It is also shown that: (a) people with a lifetime SA reported more severe symptoms than those without, (b) people with recent SI reported more severe symptoms than those without, and (c) people with both recent SI and lifetime SA were the most severely distressed. Future studies may replicate the findings here with other pertinent risk factors such as thwarted belongingness, perceived burdensomeness, and acquired capability, the last of which is consistently linked to attempting among ideators.

Keywords: suicide, guilt, shame, self-anger, suicide cognitions, suicide ideation, suicide attempt

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Authors: Apoorva D. R.

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INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a severe, potentially fatal syndrome in which there is excessive immune activation. The disease is seen in children and people of all ages, but infants from birth to 18 months are most frequently affected. HLH is a sporadic or familial condition that can be triggered by various events that disturb immunological homeostasis. In cases with a genetic predisposition and sporadic occurrences, infection is a frequent trigger. Because of the rarity of this disease, the diverse clinical presentation, and the lack of specificity in the clinical and laboratory results, prompt treatment is essential, but the biggest obstacle to a favorable outcome is frequently a delay in identification. CASE REPORT: Here we report a case of a 6-month-old male infant who presented to the dermatology outpatient with disseminated skin lesions present over the face, abdomen, scalp, and bilateral upper and lower limbs for the past month. The lesions were insidious in onset, initially started over the abdomen, and gradually progressed to involve other body parts. The patient also had a history of fever which was moderate in grade, on and off in nature for 1 month. There were no significant complaints in the past, family, or drug history. There was no history of feeding difficulties in the baby. Parents gave a history of developmental milestones appropriate for age. Examination findings include multiple well-defined monomorphic erythematous papules with a central crater present over bilateral cheeks. Few lichenoid shiny papules present over bilateral arms, legs, and abdomen. Ultrasound of the abdomen and pelvis showed mild degree hepatosplenomegaly, intraabdominal lymphadenopathy, and bilateral inguinal lymphadenopathy. Routine blood investigations showed anemia and lymphopenia. Multiple X-rays of the skull, chest, and bilateral upper and lower limbs were done and were normal. Histopathology features were suggestive of non-Langerhans cell cutaneous histiocytosis. CONCLUSION: HLH is a fatal and rare disease. A high level of suspicion and an interdisciplinary approach among experienced clinicians, pathologists, and microbiologists to define the diagnosis and causative disease are key to diagnosing this case. Early detection and treatment can reduce patient morbidity and mortality.

Keywords: histiocytosis, non langerhans cell, case report, fatal, rare

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Authors: Dalia Antiniene, Rosita Lekaviciene

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The qualitative methodology based study is designed to reveal a connection between emotional intelligence (EI) and locus of control (LC) within the population of Lithuanian youth. In the context of emotional problems, the locus of control reflects how one estimates the causes of his/her emotions: internals (internal locus of control) associate their emotions with their manner of thinking, whereas externals (external locus of control) consider emotions to be evoked by external circumstances. On the other hand, there is little empirical data about this connection, and the results in disposition are often contradictory. In the conducted study 1430 young people, aged 17 to 27, from various regions of Lithuania were surveyed. The subjects were selected by quota sampling, maintaining natural proportions of the general Lithuanian youth population. To assess emotional intelligence the EI-DARL test (i.e. self-report questionnaire consisting of 75 items) was implemented. The emotional intelligence test, created applying exploratory factor analysis, reveals four main dimensions of EI: understanding of one’s own emotions, regulation of one’s own emotions, understanding other’s emotions, and regulation of other’s emotions (subscale reliability coefficients fluctuate between 0,84 and 0,91). An original 16-item internality/externality scale was used to examine the locus of control (internal consistency of the Externality subscale - 0,75; Internality subscale - 0,65). The study has determined that the youth understands and regulates other people’s emotions better than their own. Using the K-mean cluster analysis method, it was established that there are three groups of subjects according to their EI level – people with low, medium and high EI. After comparing means of subjects’ favorability of statements on the Internality/Externality scale, a predominance of internal locus of control in the young population was established. The multiple regression models has shown that a rather strong statistically significant correlation exists between total EI, EI subscales and LC. People who tend to attribute responsibility for the outcome of their actions to their own abilities and efforts have higher EI and, conversely, the tendency to attribute responsibility to external forces is related more with lower EI. While pursuing their goals, young people with high internality have a predisposition to analyze perceived emotions and, therefore, gain emotional experience: they learn to control their natural reactions and to act adequately in a situation at hand. Thus the study unfolds, that a person’s locus of control and emotional intelligence are related phenomena and allows us to draw a conclusion, that a person’s internality/externality is a reliable predictor of total EI and its components.

Keywords: emotional intelligence, externality, internality, locus of control

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Authors: Omer Zvi Shaked

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Intimate Partner Violence (IPV) is a widespread social problem. Since the 1970's, and due to political changes resulting from the feminist movement, western society has been changing its attitude towards the phenomenon and has been taking an active approach to reduce its magnitude. Enterprises in the form of legislation, awareness and prevention campaigns, women's shelters, and community intervention programs became more prevalent as years progressed. Although many initiatives were found to be productive, the effectiveness of one, however, remained questionable throughout the years: intervention programs for men's intimate violence. Surveys outline two main intervention models for men's intimate violence. The first is the Duluth model, which argued that men are socialized to be dominant - while women are socialized to be subordinate - and men are therefore required by social imperative to enforce, physically if necessary, their dominance. The Duluth model became the chief authorized intervention program, and some states in the US even regulated it as the standard criminal justice program for men's intimate violence. However, meta-analysis findings demonstrated that based on a partner's reports, Duluth treatment completers have 44% recidivism rate, and between 40% and 85% dropout range. The second model is the Cognitive-Behavioral Model (CBT), which is a highly accepted intervention worldwide. The model argues that cognitive misrepresentations of intimate situations precede violent behaviors frequently when anger predisposition exists. Since anger dysregulation mediates between one's cognitive schemes and violent response, anger regulation became the chief purpose of the intervention. Yet, a meta-analysis found only a 56% risk reduction for CBT interventions. It is, therefore, crucial to understand the background behind the domination of both the Duluth model and CBT interventions. This presentation will discuss the ways in which theoretical conceptualizations of men's intimate violence, as well as ideologies, had contributed to the above-mentioned interventions' wide acceptance, despite known lack of scientific and evidential support. First, the presentation will review the prominent interventions for male intimate violence, the Duluth model, and CBT. Second, the presentation will review the prominent theoretical models explaining men's intimate violence: The Patriarchal model, the Abusive Personality model, and the Post-Traumatic Stress model. Third, the presentation will discuss the interrelation between theory and practice, and the nature of affinity between research and practice regarding men's intimate violence. Finally, the presentation will set new directions for further research, aiming to improve intervention's efficiency with men's intimate violence and advance social work practice in the field.

Keywords: intimate partner violence, theory and practice relationship, Duluth, CBT, abusive personality, post-traumatic stress

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Authors: Y. I. Tretyakova, S. G. Shulkina, T. Y. Kravtsova, A. A. Antipova, N. Y. Kolomeets

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The research aimed to assess the functional significance of tumor necrosis factor-alpha (TNF-α) gene polymorphism at the -308G/A (rs1800629) region and vascular endothelial growth factor A (VEGFA) gene polymorphism at the -634G/C (rs 2010963) region in the development of ulcerative colitis (UC), focusing on patients from the Perm region, Russia. We examined 70 UC patients and 50 healthy donors during the active phase of the disease. Our focus was on TNF-α and VEGF concentration in the blood serum, as well as TNF-α and VEGFA gene polymorphisms at the -308G/А and -634G/C regions, respectively. We found that TNF-α and VEGF levels were significantly higher in patients with severe UC and high endoscopic activity compared to those with milder forms of the disease and low endoscopic activity. These tests could serve as additional non-invasive markers for assessing mucosal damage in the large intestine of UC patients. The frequency of allele variations in the TNF-α gene -308G/A (rs1800629) revealed a significantly higher occurrence of the unfavorable homozygote AA in UC patients compared to donors. Additionally, the major allele G and the allele pair GG were more frequent in patients with mild to moderate disease and 1-2 degree of endoscopic activity than in those with severe UC and 3-4 degree of endoscopic activity (χ2=14.19; p=0.000). We also observed a mutant allele A and the unfavorable homozygote AA associated with severe progressive UC. The occurrence of the mutant allele increased the risk of severe UC by 5 times (OR 5.03; CI 12.07-12.21). We did not find any significant differences in the frequency of the CC homozygote (χ2=1.02; p=0.6; OR=1.32) and the mutant allele C of the VEGFA gene -634G/C (rs 2010963) (χ2=0.01; p=0.913; OR=0.97) between groups of UC patients and healthy individuals. However, we detected that the mutant allele C and the unfavorable homozygote CC of the VEGFA gene were associated with more severe endoscopic changes in the colonic mucosa of UC patients (χ2=25,76; р=0,000; OR=0,15). The presence of the mutant allele increased the risk of severe UC by 6 times (OR 6,78; CI 3,13–14,7). We found a direct correlation between TNF-α and VEGFA gene polymorphisms, increased production of the same factors, disease severity, and endoscopic activity (р=0.000). Therefore, the presence of the mutant allele A and homozygote AA of the TNF-α gene at the -308G/A region and the mutant allele C and homozygote CC of the VEGFA gene at the -634G/C region are associated with risks related to an unfavorable clinical course of UC, frequent recurrences, and rapid progression. These findings should be considered when making prognoses regarding the clinical course of the disease and selecting treatment strategies. The presence of the homozygote AA in the TNF-α gene (rs1800629) is considered a sign of genetic predisposition to UC.

Keywords: gene polymorphism, TNF-α, ulcerative colitis, VEGF

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Authors: Sadaf Salek

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Introduction: Cats are susceptible to various health conditions, and one such ailment that can affect their oral health is epulis in their lips. Epulis refers to a benign tumor or growth that can develop in different areas of a cat's mouth, including the lips. While epulis is not life-threatening, it can still cause discomfort and affect a cat's overall quality of life. This essay aims to delve into the causes, symptoms, and treatment options for epulis in cat's lips, shedding light on this lesser-known oral condition. Causes: Epulis in a cat's lips can have several causes. Firstly, genetic predisposition plays a significant role, with certain breeds being more prone to developing these growths. Secondly, chronic irritation to the mouth, such as from dental diseases or foreign objects, can also contribute to the development of epulis. Lastly, hormonal imbalances, specifically an excess of estrogen, have been associated with the occurrence of these tumors in cats. Understanding these causes can help cat owners take preventive measures to reduce the risk of epulis in their feline companions. Symptoms: Identifying the symptoms of epulis in a cat's lips is vital for early intervention and effective treatment. The most common symptoms include swelling, redness, and the presence of a visible growth or lump on the lip. Cats with epulis may also exhibit drooling, difficulty eating, and a reluctance to groom themselves. Any change in eating habits or oral behavior should not be overlooked and prompt a visit to the veterinarian for a thorough examination. Treatment ptions: When it comes to treating epulis in a cat's lips, various options are available, depending on the size, location, and characteristics of the growth. The primary treatment involves surgical removal of the tumor. This procedure should be performed by a qualified veterinarian, ensuring complete excision of the mass while preserving as much healthy tissue as possible. In some cases, radiation therapy may be necessary, especially if the tumor is large or aggressive. Additionally, a veterinarian may recommend oral hygiene care and regular dental cleaning to prevent further growths and maintain the cat's oral health. Prevention and Care: Preventing epulis in a cat's lips is not always possible, especially if genetic factors are involved. However, certain preventive measures can minimize the risk of these growths. Maintaining good oral hygiene through regular brushing and the use of appropriate dental products can help prevent chronic irritation and dental diseases. Routine veterinary check-ups should also include thorough oral examinations to detect any abnormal growths or changes in the mouth at an early stage. Pet owners should be observant and seek veterinary care promptly for any signs of discomfort or changes in eating habits. Conclusion: Epulis in a cat's lips is a condition that requires attention and proper treatment. Understanding the causes, identifying symptoms, and exploring treatment options are of utmost importance to help improve a cat's oral health and overall well-being.

Keywords: fibroma, cat, lip, epulis

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Authors: Abdoulie K. Ceesay

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Within the sequence of the whole genome, it is known that 99.9% of the human genome is similar, whilst our difference lies in just 0.1%. Among these minor dissimilarities, the most common type of genetic variations that occurs in a population is SNP, which arises due to nucleotide substitution in a protein sequence that leads to protein destabilization, alteration in dynamics, and other physio-chemical properties’ distortions. While causing variations, they are equally responsible for our difference in the way we respond to a treatment or a disease, including various cancer types. There are two types of SNPs; synonymous single nucleotide polymorphism (sSNP) and non-synonymous single nucleotide polymorphism (nsSNP). sSNP occur in the gene coding region without causing a change in the encoded amino acid, while nsSNP is deleterious due to its replacement of a nucleotide residue in the gene sequence that results in a change in the encoded amino acid. Predicting the effects of cancer related nsSNPs on protein stability, function, and dynamics is important due to the significance of phenotype-genotype association of cancer. In this thesis, Data of 5 oncogenes (ONGs) (AKT1, ALK, ERBB2, KRAS, BRAF) and 5 tumor suppressor genes (TSGs) (ESR1, CASP8, TET2, PALB2, PTEN) were retrieved from ClinVar. Five common in silico tools; Polyphen, Provean, Mutation Assessor, Suspect, and FATHMM, were used to predict and categorize nsSNPs as deleterious, benign, or neutral. To understand the impact of each variation on the phenotype, Maestro, PremPS, Cupsat, and mCSM-NA in silico structural prediction tools were used. This study comprises of in-depth analysis of 10 cancer gene variants downloaded from Clinvar. Various analysis of the genes was conducted to derive a meaningful conclusion from the data. Research done indicated that pathogenic variants are more common among ONGs. Our research also shows that pathogenic and destabilizing variants are more common among ONGs than TSGs. Moreover, our data indicated that ALK(409) and BRAF(86) has higher benign count among ONGs; whilst among TSGs, PALB2(1308) and PTEN(318) genes have higher benign counts. Looking at the individual cancer genes predisposition or frequencies of causing cancer according to our research data, KRAS(76%), BRAF(55%), and ERBB2(36%) among ONGs; and PTEN(29%) and ESR1(17%) among TSGs have higher tendencies of causing cancer. Obtained results can shed light to the future research in order to pave new frontiers in cancer therapies.

Keywords: tumor suppressor genes (TSGs), oncogenes (ONGs), non synonymous single nucleotide polymorphism (nsSNP), single nucleotide polymorphism (SNP)

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Authors: M. H. A. D. de Silva, R. P. Hewawasam, M. A. G. Iresha

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Macrosomia is common in infants born to not only women diagnosed with gestational diabetes mellitus but also non-diabetic obese women. Maternal Body Mass Index (BMI) correlates with the incidence of large for gestational age infants. Obesity has reached epidemic levels in modern societies. During the past two decades, obesity in children and adolescents has risen significantly in Asian populations including Sri Lanka. There is increasing evidence to believe that infants who are born large for gestational age are more likely to be obese in childhood and adolescence and are at risk of cardiovascular and metabolic complications later in life. It is also established that Asians have lower skeletal muscle mass, low bone mineral content and excess body fat for a given BMI indicating a genetic predisposition in the occurrence of obesity. The objective of this study is to determine the effect of maternal weight, weight gain during pregnancy, c-peptide and insulin concentrations in the cord blood on the birth of appropriate for and large for gestational age infants in a tertiary care center in Southern Sri Lanka. Umbilical cord blood was collected from 90 newborns (Male 40, Female 50; gestational age 35-42 weeks) after double clamping the umbilical cord before separation of the placenta and the concentration of insulin and C-peptide were measured by ELISA technique. Anthropometric parameters of the newborn such as birth weight, length, ponderal index, occipital frontal, chest, hip and calf circumferences were measured, and characteristics of the mother were collected. The relationship between insulin, C-peptide and anthropometrics were assessed by Spearman correlation. The multiple logistic regression analysis examined influences of maternal weight, weight gain during pregnancy, C-peptide and insulin concentrations in cord blood as covariates on the birth of large for gestational age infants. A significant difference (P<0.001) was observed between the insulin levels of infants born large for gestational age (18.73 ± 0.52 µlU/ml) and appropriate for gestational age (13.08 ± 0.56 µlU/ml). Consistently, A significant decrease in concentration (41.68%, P<0.001) was observed between C-peptide levels of infants born large for gestational age and appropriate for gestational age. Cord blood insulin and C-peptide levels had a significant correlation with birth weight (r=0.35, P<0.05) of the newborn at delivery. Maternal weight and BMI which are indicators of maternal nutrition were proven to be directly correlated with birth weight and length. To our knowledge, this relationship was investigated for the first time in a Sri Lankan setting and was also evident in our results. This study confirmed the fact that insulin and C-peptide play a major role in regulating fetal growth. According to the results obtained in this study, we can suggest that the increased BMI of the mother has a direct influence on increased maternal insulin secretion, which may subsequently affect cord insulin and C-peptide levels and also birth weight of the infant.

Keywords: C-peptide, insulin, large for gestational age, maternal weight

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Authors: R. P. Hewawasam, M. H. A. D. de Silva, M. A. G. Iresha

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In recent years childhood obesity has increased to pan-epidemic proportions along with a concomitant increase in obesity-associated morbidity. Birth weight is an important determinant of later adult health, with neonates at both ends of the birth weight spectrum at risk of future health complications. Consequently, infants who are born large for gestational age (LGA) are more likely to be obese in childhood and adolescence and are at risk of cardiovascular and metabolic complications later in life. Adipose tissue plays a role in linking events in fetal growth to the subsequent development of adult diseases. In addition to its role as a storage depot for fat, adipose tissue produces and secrets a number of hormones of importance in modulating metabolism and energy homeostasis. Cord blood leptin level has been positively correlated with fetal adiposity at birth. It is established that Asians have lower skeletal muscle mass, low bone mineral content and excess body fat for a given body mass index indicating a genetic predisposition in the occurrence of obesity. To our knowledge, studies have never been conducted in Sri Lanka to determine the relationship between adipocytokine profile in cord blood and anthropometric parameters in newborns. Thus, the objective of this study is to establish the above relationship for the Sri Lankan population to implement awareness programs to minimize childhood obesity in the future. Umbilical cord blood was collected from 90 newborns (Male 40, Female 50; gestational age 35-42 weeks) after double clamping the umbilical cord before separation of the placenta and the concentration of leptin was measured by ELISA technique. Anthropometric parameters of the newborn such as birth weight, length, ponderal index, occipital frontal, chest, hip and calf circumferences were measured. Pearson’s correlation was used to assess the relationship between leptin and anthropometric parameters while the Mann-Whitney U test was used to assess the differences in cord blood leptin levels between small for gestational age (SGA), appropriate for gestational age (AGA) and LGA infants. There was a significant difference (P < 0.05) between the cord blood leptin concentrations of LGA infants (12.67 ng/mL ± 2.34) and AGA infants (7.10 ng/mL ± 0.90). However, a significant difference was not observed between leptin levels of SGA infants (8.86 ng/mL ± 0.70) and AGA infants. In both male and female neonates, umbilical leptin levels showed significant positive correlations (P < 0.05) with birth weight of the newborn, pre-pregnancy maternal weight and pre pregnancy BMI between the infants of large and appropriate for gestational ages. Increased concentrations of leptin levels in the cord blood of large for gestational age infants suggest that they may be involved in regulating fetal growth. Leptin concentration of Sri Lankan population was not significantly deviated from published data of Asian populations. Fetal leptin may be an important predictor of neonatal adiposity; however, interventional studies are required to assess its impact on the possible risk of childhood obesity.

Keywords: appropriate for gestational age, childhood obesity, leptin, anthropometry

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Authors: Rachel Barker

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The exponential velocity in the truly knowledge-intensive world today has increasingly bombarded organizations with unfathomable challenges. Hence organizations are introduced to strange lexicons of descriptors belonging to a new paradigm of who, what and how knowledge at individual and organizational levels should be managed. Although organizational knowledge has been recognized as a valuable intangible resource that holds the key to competitive advantage, little progress has been made in understanding how knowledge sharing at individual level could benefit knowledge use at collective level to ensure added value. The research problem is that a lack of research exists to measure knowledge sharing through a multi-layered structure of ideas with at its foundation, philosophical assumptions to support presuppositions and commitment which requires actual findings from measured variables to confirm observed and expected events. The purpose of this paper is to address this problem by presenting a theoretical approach to measure knowledge sharing in emerging knowledge organizations. The research question is that despite the competitive necessity of becoming a knowledge-based organization, leaders have found it difficult to transform their organizations due to a lack of knowledge on who, what and how it should be done. The main premise of this research is based on the challenge for knowledge leaders to develop an organizational culture conducive to the sharing of knowledge and where learning becomes the norm. The theoretical constructs were derived and based on the three components of the knowledge management theory, namely technical, communication and human components where it is suggested that this knowledge infrastructure could ensure effective management. While it is realised that it might be a little problematic to implement and measure all relevant concepts, this paper presents effect of eight critical success factors (CSFs) namely: organizational strategy, organizational culture, systems and infrastructure, intellectual capital, knowledge integration, organizational learning, motivation/performance measures and innovation. These CSFs have been identified based on a comprehensive literature review of existing research and tested in a new framework adapted from four perspectives of the balanced score card (BSC). Based on these CSFs and their items, an instrument was designed and tested among managers and employees of a purposefully selected engineering company in South Africa who relies on knowledge sharing to ensure their competitive advantage. Rigorous pretesting through personal interviews with executives and a number of academics took place to validate the instrument and to improve the quality of items and correct wording of issues. Through analysis of surveys collected, this research empirically models and uncovers key aspects of these dimensions based on the CSFs. Reliability of the instrument was calculated by Cronbach’s a for the two sections of the instrument on organizational and individual levels.The construct validity was confirmed by using factor analysis. The impact of the results was tested using structural equation modelling and proved to be a basis for implementing and understanding the competitive predisposition of the organization as it enters the process of knowledge management. In addition, they realised the importance to consolidate their knowledge assets to create value that is sustainable over time.

Keywords: innovation, intellectual capital, knowledge sharing, performance measures

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Authors: Puzanova Zhanna Vasilyevna, Larina Tatiana Igorevna, Tertyshnikova Anastasia Gennadyevna

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In this day and age, extremism in various forms of its manifestation is a real threat to the world community, the national security of a state and its territorial integrity, as well as to the constitutional rights and freedoms of citizens. Extremism, as it is known, in general terms described as a commitment to extreme views and actions, radically denying the existing social norms and rules. Supporters of extremism in the ideological and political struggles often adopt methods and means of psychological warfare, appeal not to reason and logical arguments, but to emotions and instincts of the people, to prejudices, biases, and a variety of mythological designs. They are dissatisfied with the established order and aim at increasing this dissatisfaction among the masses. Youth extremism holds a specific place among the existing forms and types of extremism. In this context in 2015, we conducted a survey among Moscow college and high school students. The aim of this study was to determine how great or small is the difference in understanding and attitudes towards extremism manifestations, inclination and readiness to take part in extremist activities and what causes this predisposition, if it exists. We performed multivariate analysis and found the Russian college and high school students' opinion about the extremism and terrorism situation in our country and also their cognition on these topics. Among other things, we showed, that the level of aggressiveness of young people were not above the average for the whole population. The survey was conducted using the questionnaire method. The sample included college and high school students in Moscow (642 and 382, respectively) by method of random selection. The questionnaire was developed by specialists of RUDN University Sociological Laboratory and included both original questions (projective questions, the technique of incomplete sentences), and the standard test Dayhoff S. to determine the level of internal aggressiveness. It is also used as an experiment, the technique of study option using of FACS and SPAFF to determine the psychotypes and determination of non-verbal manifestations of emotions. The study confirmed the hypothesis that in respondents’ opinion, the level of aggression is higher today than a few years ago. Differences were found in the understanding of and respect for such social phenomena as extremism, terrorism, and their danger and appeal for the two age groups of young people. Theory of psychotypes, SPAFF (specific affect cording system) and FACS (facial action cording system) are considered as additional techniques for the diagnosis of a tendency to extreme views. Thus, it is established that diagnostics of acceptance of extreme views among young people is possible thanks to simultaneous use of knowledge from the different fields of socio-humanistic sciences. The results of the research can be used in a comparative context with other countries and as a starting point for further research in the field, taking into account its extreme relevance.

Keywords: extremism, youth extremism, diagnostics of extremist manifestations, forecast of behavior, sociological polls, theory of psychotypes, FACS, SPAFF

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Authors: Andrea N. Alarcon, Julian D. Castro, Gloria C. Rojas, Paola A. Vaca, Santiago Ortiz, Gustavo Martinez, Pablo D. Lemoine

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Recently, electoral results across many countries have shown to be inconsistent with rational decision theory, which states that individuals make decisions based on maximizing benefits and reducing risks. An alternative explanation has emerged: Fear and rage-driven vote have been proved to be highly effective for political persuasion and mobilization. This phenomenon has been evident in the 2016 elections in the United States, 2006 elections in Mexico, 1998 elections in Venezuela, and 2004 elections in Bolivia. In Colombia, it has occurred recently in the 2016 plebiscite for peace and 2018 presidential elections. The aim of this study is to explain this phenomenon using cultural cognition theory, referring to the psychological predisposition individuals have to believe that its own and its peer´s behavior is correct and, therefore, beneficial to the entire society. Cultural cognition refers to the tendency of individuals to fit perceived risks, and factual beliefs into group shared values; the Cultural Cognition Worldview Scales (CCWS) measures cultural perceptions through two different dimensions: Individualism-communitarianism and hierarchy-egalitarianism. The former refers to attitudes towards social dominance based on conspicuous and static characteristics (sex, ethnicity or social class), while the latter refers to attitudes towards a social ordering in which it is expected from individuals to guarantee their own wellbeing without society´s or government´s intervention. A probabilistic national sample was obtained from different polls from the consulting and public opinion company Centro Nacional de Consultoría. Sociodemographic data was obtained along with CCWS scores, a subjective measure of left-right ideological placement and vote intention for 2019 Mayor´s elections were also included in the questionnaires. Finally, the question “In your opinion, what is the greatest risk Colombia is facing right now?” was included to identify perceived risk in the population. Preliminary results show that Colombians are highly distributed among hierarchical communitarians and egalitarian individualists (30.9% and 31.7%, respectively), and to a less extent among hierarchical individualists and egalitarian communitarians (19% and 18.4%, respectively). Males tended to be more hierarchical (p < .000) and communitarian (p=.009) than females. ANOVA´s revealed statistically significant differences between groups (quadrants) for the level of schooling, left-right ideological orientation, and stratum (p < .000 for all), and proportion differences revealed statistically significant differences for groups of age (p < .001). Differences and distributions for vote intention and perceived risks are still being processed and results are yet to be analyzed. Results show that Colombians are differentially distributed among quadrants in regard to sociodemographic data and left-right ideological orientation. These preliminary results indicate that this study may shed some light on why Colombians vote the way they do, and future qualitative data will show the fears emerging from the identified values in the CCWS and the relation this has with vote intention.

Keywords: communitarianism, cultural cognition, egalitarianism, hierarchy, individualism, perceived risks

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Authors: Tatiana Butkova, Nikolai Kibrik, Kristina Malsagova, Alexander Izotov, Alexander Stepanov, Anna Kaysheva

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Relevance. The genetic risk of developing schizophrenia is determined by two factors: single nucleotide polymorphisms and gene copy number variations. The search for serological markers for early diagnosis of schizophrenia is driven by the fact that the first five years of the disease are accompanied by significant biological, psychological, and social changes. It is during this period that pathological processes are most amenable to correction. The aim of this study was to analyze single nucleotide polymorphisms (SNPs) that are hypothesized to potentially influence the onset and development of the endogenous process. Materials and Methods It was analyzed 73 single nucleotide polymorphism variants. The study included 48 patients undergoing inpatient treatment at "Psychiatric Clinical Hospital No. 1" in Moscow, comprising 23 females and 25 males. Inclusion criteria: - Patients aged 18 and above. - Diagnosis according to ICD-10: F20.0, F20.2, F20.8, F21.8, F25.1, F25.2. - Voluntary informed consent from patients. Exclusion criteria included: - The presence of concurrent somatic or neurological pathology, neuroinfections, epilepsy, organic central nervous system damage of any etiology, and regular use of medication. - Substance abuse and alcohol dependence. - Women who were pregnant or breastfeeding. Clinical and psychopathological assessment was complemented by psychometric evaluation using the PANSS scale at the beginning and end of treatment. The duration of observation during therapy was 4-6 weeks. Total DNA extraction was performed using QIAamp DNA. Blood samples were processed on Illumina HiScan and genotyped for 652,297 markers on the Infinium Global Chips Screening Array-24v2.0 using the IMPUTE2 program with parameters Ne=20,000 and k=90. Additional filtration was performed based on INFO>0.5 and genotype probability>0.5. Quality control of the obtained DNA was conducted using agarose gel electrophoresis, with each tested sample having a volume of 100 µL. Results. It was observed that several SNPs exhibited gender dependence. We identified groups of single nucleotide polymorphisms with a membership of 80% or more in either the female or male gender. These SNPs included rs2661319, rs2842030, rs4606, rs11868035, rs518147, rs5993883, and rs6269.Another noteworthy finding was the limited combination of SNPs sufficient to manifest clinical symptoms leading to hospitalization. Among all 48 patients, each of whom was analyzed for deviations in 73 SNPs, it was discovered that the combination of involved SNPs in the manifestation of pronounced clinical symptoms of schizophrenia was 19±3 out of 73 possible. In study, the frequency of occurrence of single nucleotide polymorphisms also varied. The most frequently observed SNPs were rs4849127 (in 90% of cases), rs1150226 (86%), rs1414334 (75%), rs10170310 (73%), rs2857657, and rs4436578 (71%). Conclusion. Thus, the results of this study provide additional evidence that these genes may be associated with the development of schizophrenia spectrum disorders. However, it's impossible cannot rule out the hypothesis that these polymorphisms may be in linkage disequilibrium with other functionally significant polymorphisms that may actually be involved in schizophrenia spectrum disorders. It has been shown that missense SNPs by themselves are likely not causative of the disease but are in strong linkage disequilibrium with non-functional SNPs that may indeed contribute to disease predisposition.

Keywords: gene polymorphisms, genotyping, single nucleotide polymorphisms, schizophrenia.

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Authors: Paul J. McKay

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Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.

Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)

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