Search results for: hypoactive sexual desire disorder

Authors: Selim A., Albasher N., Bakrmom G., Alanzi S.

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Irritable bowel syndrome (IBS) is a chronic functional bowel disorder characterized by abdominal discomfort or pain and associated with alteration in frequency and/or form of bowel habit among other symptoms. This diagnosis is associated with increased levels of psychological distress, maladaptive coping, genetic risk factors, abnormal small and colonic intestine transit, change in stool frequency or form and abdominal discomfort or pain. Aim: The aim of the study was to assess psychological alarm among individuals suffering from Irritable Bowel Syndrome (IBS). Methods: A cross-sectional correlational research design was used to conduct the current study. A convenience sample of 504 participants was included in the present study. Data were collected using a self-report questionnaire. The questionnaire included socio-demographic data, ROME III to identify Irritable Bowel Syndrome (IBS) and Psychological Alarm Questionnaire. Results: Out of 504 participants who reported abdominal discomfort, 297 (58.9 %) participants met the diagnostic criteria of IBS. The mean age of the IBS participants was 30.16 years, females composed 75.1% of the IBS participants, and 55.2% did not seek medical help. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals when compared to individuals not suffering from IBS. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals compared to individuals not suffering from IBS. Conclusion: IBS is highly associated with significant psychological alarms including depression, anxiety and suicidal ideas.

Keywords: abdominal pain , irritable bowel syndrome, distress, psychological alarms

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Authors: Joao Ferreira Do Rosario, Nuno Gustavo, Ana Machado, Lurdes Calisto, Luisa Carvalho, Georgette Andraz

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Currently, tourism small and medium enterprises (TSMEs) face serious economic and financial problems, making recovery efforts difficult. How the pandemic will affect tourists' behavior is still to be known. Will tourists be even more cautious regarding their choices or, on the contrary, will they be more adventurers with an enormous desire to travel in search of the lost freedom? Tourists may become even more demanding when traveling, more austere, or less concerned and eager to socialize. Adjusting to this "new tourist" is an added challenge for tourism service providers. Generation Z made up of individuals born in 1995 and following years, currently tends to assume a particular role and meaning in the present and future economic and social context, considering that we are facing the youngest workforce as well as tomorrow's consumers. This generation is distinguished from others as it is the first generation to combine a high level of education and technological knowledge and to fully experience the digital world. These young people are framed by a new value system that can explain new behaviours and consumption, namely, in the context of tourism. All these considerations point to the importance of investigating this target group as it is essential to understand how these individuals perceive, understand, act, and can be involved in a new environment built around a society regulated by new priorities and challenges of a sustainable nature. This leads not only to a focus on short-term market choices but mainly to predict future choices from a longer-term perspective. Together with the social background of a person, values are considered a stable antecedent of behavior and might therefore predict not just immediate, but also future choices. Furthermore, the meaning attributed to travel has a general connotation and goes beyond a specific travel choice or experience. In other words, values and travel's meaning form a chain of influences on the present and future travel behavior. This study explores the social background and values of Generation Z travelers vs the meaning these tourists give to travel. The aim is to discover in their present behavior cues to predict travel choices so that the future of tourism can be secured. This study also provides data for predicting the tourism choices of youngsters in the more immediate future. Methodologically, a quantitative approach was adopted based on the collection of data through a survey. Since academic research on Generation Z of tourists is still scarce, it is expected to contribute to deepening scientific knowledge in this area. Furthermore, it is expected that this research will support tourism professionals in defining differentiated marketing strategies and adapted to the requirements of this target, in a new time.

Keywords: Generation Z, travel behavior, travel meaning, Generation Z Values

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Authors: Clesse C., Lighezzolo-Alnot J., De Lavergne S.

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Considered as the most common surgical procedure worldwide, episiotomy can be defined as an incision around the vulva performed to enlarge it, in the aim of preventing the traumatic rupture of the perineum during childbirth. Rather mediatized, this practice raises many questions in the field of mental health, relayed by different users and health professionals. Today, is topicality is moderately hectic since many queries about the prophylactic exercise of episiotomy are subject to a relative consensus, particularly since WHO advocated in 1996 that only 10% of childbirths should involve an episiotomy. This indicator appeared after the publication of numerous results from randomized clinical trials. Unfortunately, these papers seem mostly centered about somatic impacts of episiotomy. From the side of psychological studies, they mostly integrate a major clinical methodological bias, especially considering that every primiparous woman is identical to the others face to the experience of parturition. In the aim to fill this lack of knowledge, we developed a longitudinal research starting in the 7th month of pregnancy and ending one year after delivery. We are studying in a comparative way different possible psychological consequences inherent to the use of episiotomy. To do this, we use a standardized methodology which combines semi-structured clinical interviews (IRMAG, IRMAN ...), free clinical interviews, a projective test (Rorschach) and five questionnaires (QIC, EPDS, CPQ WOMBLSQ4, SF36). Therefore, we can comprehend with shrewdness the question of psychic impacts of episiotomy in a qualitative and quantitative way by comparing it to other obstetric interventions. In this paper, we will present the first results obtained about a population of twenty-two primiparous women by focusing on body image, sexuality, quality of life, depressive affects, post-traumatic stress disorder and investment of the maternal role. Finally, we will consider the different implications and perspectives of this research which could improve the public health policies in the field of perinatal care.

Keywords: assessment, episiotomy, mental health, psychical impacts

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Authors: Xianming Chen, Yu Lei, Meinan Wang

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The dikaryotic basidiomycete fungus, Puccinia striiformis, causes stripe rust, one of the most important diseases of wheat and barley worldwide. The pathogen is largely reproduced asexually, and asexual recombination has been hypothesized to be one of the mechanisms for the pathogen variations. To test the hypothesis and understand the genetic process of asexual recombination, somatic recombinant isolates were obtained under controlled conditions by inoculating susceptible host plants with a mixture of equal quantity of urediniospores of isolates with different virulence patterns and selecting through a series of inoculation on host plants with different genes for resistance to one of the parental isolates. The potential recombinant isolates were phenotypically characterized by virulence testing on the set of 18 wheat lines used to differentiate races of the wheat stripe rust pathogen, P. striiformis f. sp. tritici (Pst), for the combinations of Pst isolates; or on both sets of the wheat differentials and 12 barley differentials for identifying races of the barley stripe rust pathogen, P. striiformis f. sp. hordei (Psh) for combinations of a Pst isolate and a Psh isolate. The progeny and parental isolates were also genotypically characterized with 51 simple sequence repeat and 90 single-nucleotide polymorphism markers. From nine combinations of parental isolates, 68 potential recombinant isolates were obtained, of which 33 (48.5%) had similar virulence patterns to one of the parental isolates, and 35 (51.5%) had virulence patterns distinct from either of the parental isolates. Of the 35 isolates of distinct virulence patterns, 11 were identified as races that had been previously detected from natural collections and 24 were identified as new races. The molecular marker data confirmed 66 of the 68 isolates as recombinants. The percentages of parental marker alleles ranged from 0.9% to 98.9% and were significantly different from equal proportions in the recombinant isolates. Except for a couple of combinations, the greater or less contribution was not specific to any particular parental isolates as the same parental isolates contributed more to some of the progeny isolates but less to the other progeny isolates in the same combination. The unequal contributions by parental isolates appear to be a general role in somatic recombination for the stripe rust fungus, which may be used to distinguish asexual recombination from sexual recombination in studying the evolutionary mechanisms of the highly variable fungal pathogen.

Keywords: molecular markers, Puccinia striiformis, somatic recombination, stripe rust

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Authors: Ke Guek Nee, Wong Siew Fan, Nigel V. Marsh

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Excessive use of the Internet has become a cause for concern in many countries, including Malaysia. Such behaviour is reported to be more prevalent amongst young adults who are reported to be spending large amount of time on the Internet. The present study has three objectives. First one is designing a manual-based Cognitive Behavioural Therapy (CBT) programme to reduce problematic Internet use among young adults in Malaysia. Second one is examining the effectiveness of a manual-based CBT programme at the pilot study stage. Thirdly, the programme focuses on reducing the level of stress and anxiety in problematic Internet users. We adopted CBT with single subject experimental design method. A total of six participants completed the entire program. They were asked to report their daily Internet use and software was installed on their devices to record actual use. The data collection involved three time frame measurements: T1 (baseline), T2 (immediately during the last session of the intervention sessions), and T3 (follow-up). Three scales were used to measure the effectiveness of the program: Depression, Anxiety, Stress Scales (DASS), Social Interaction Anxiety Scale (SIAS), and Problematic Internet Use Questionnaire (PIUQ). The results revealed that the intervention programme has significantly improved two dimensions of problematic Internet use which were obsession and control disorder. The participants’ mental health also showed a deduction in means scores for depression, anxiety and stress with depression showing the greatest improvement after the intervention programme. The participants’ social anxiety showed a slight deduction in means scores. We concluded that the intervention programme designed was effective. However, its limitations need to be addressed in future research.

Keywords: excessive internet use, cognitive behavioral thearapy (CBT), psychological well-being, young adults

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Authors: Kamal Kithsiri Karunadasa Hewawasam Revulge

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This paper is an interpretative historical analysis of Australian migration laws that examines asylum and refugee policies and attitudes in Australia. It looks at major turning points in Australian migration history, and in doing so, the researcher reviewed relevant literature on the aspects crucial to highlighting the current trend of Australian migration policies. The data was collected using secondary data from official government sources, including annual reports, media releases on immigration, inquiry reports, statistical information, and other available literature to identify critical historical events that significantly affected the systematic developments of asylum seekers and refugee policies in Australia and to look at the historical trends of official thinking. A reliance on using these official sources is justified as those are the most convincing sources to analyse the historical events in Australia. Additional literature provides us with critical analyses of the behaviour and culture of the Australian immigration administration. The analytical framework reviewed key Australian Government immigration policies since British colonization and the settlement era of 1787–the 1850s and to the present. The fundamental basis for doing so is that past events and incidents offer us clues and lessons relevant to the present day. Therefore, providing a perspective on migration history in Australia helps analyse how current policymakers' strategies developed and changed over time. Attention is also explicitly focused on Australian asylum and refugee policy internationally, as it helped to broaden the analysis. The finding proved a link between past events and adverse current Australian government policies towards asylum seekers and refugees. It highlighted that Australia's current migration policies are part of a carefully and deliberately planned pattern that arose from the occupation of Australia by early British settlers. In this context, the remarkable point is that the historical events of taking away children from their Australian indigenous parents, widely known as the 'stolen generation' reflected a model of assimilation, or a desire to absorb other cultures into Australian society by fully adopting the settlers' language, their culture, and losing indigenous people's traditions. Current Australian policies towards migrants reflect the same attitude. Hence, it could be argued that policies and attitudes towards asylum seekers and refugees, particularly so-called 'boat people' to some extent, still reflect Australia's earlier colonial and 'white Australia' history.

Keywords: migration law, refugee law, international law, administrative law

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Authors: Christopher Pullen

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This paper explores the significance of British cinema in the late 1950s and early 1960s as offering a renaissance of realist discourse, in the representation of everyday social issues. Offering a rejection of Hollywood cinema and the superficially of the middle classes, these ‘kitchen sink dramas’ often set within modest and sometimes squalid domestic and social environments, focused on the political struggle of the disenfranchised examining poverty, the oppressed and the outsider. While films like Look Back in Anger and Room at the Top looked primarily at male heterosexual subjectivity, films like A Taste of Honey and Victim focused on female and queer male narratives. Framing the urban landscape as a discursive architectural arena, representing basic living conditions and threatening social worlds, these iconic films established new storytelling processes for the outsider. This paper examines this historical context foregrounding the contemporary films Beautiful Thing (Hettie Macdonald, 1996), Weekend (Andrew Haigh, 2011) and Pride (Marcus Warchus, 2014), while employing the process of textual analysis in relation to theories of affect, defined by writers such as Lisa U. Marks and Sara Ahmed. Considering both romance narratives and public demonstrations of unity, where the queer ‘affective’ body is placed within architectural and social space, Beautiful Thing tells the story of gay male teenagers falling in love despite oppression from family and school, Weekend examines a one-night stand between young gay men and the unlikeliness of commitment, but the drive for sensitivity, and Pride foregrounds an historical relationship between queer youth activists and the miner’s union, who were on strike between 1984-5. These films frame the queer ‘affective’ body within politicized public space, evident in lower class men’s working clubs, tenement housing and brutal modernist tower blocks, focusing on architectural features such as windows, doorways and staircases, relating temporality, desire and change. Through such an examination a hidden history of gay male performativity is revealed, framing the potential of contemporary cinema to focus on the context of the outsider in encouraging social change.

Keywords: queer, affect, cinema, architecture, life chances

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Authors: M. Kouyate, M. Sangare, S. Samake, S. Keita, H. G. Kim, D. H. Geschwind

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Background & Objectives: Human genetic studies can be expensive, even unaffordable, in developing countries, partly due to the sequencing costs. Our aim is to pilot the use of bioinformatics tools to guide scientifically valid, locally relevant, and economically sound autism genetic research in Mali. Methods: The following databases, NCBI, HGMD, and LSDB, were used to identify hot point mutations. Phenotype, transmission pattern, theoretical protein expression in the brain, the impact of the mutation on the 3D structure of the protein) were used to prioritize selected autism genes. We used the protein database, Modeller, and clustal W. Results: We found Mef2c (Gly27Ala/Leu38Gln), Pten (Thr131IIle), Prodh (Leu289Met), Nme1 (Ser120Gly), and Dhcr7 (Pro227Thr/Glu224Lys). These mutations were associated with endonucleases BseRI, NspI, PfrJS2IV, BspGI, BsaBI, and SpoDI, respectively. Gly27Ala/Leu38Gln mutations impacted the 3D structure of the Mef2c protein. Mef2c protein sequences across species showed a high percentage of similarity with a highly conserved MADS domain. Discussion: Mef2c, Pten, Prodh, Nme1, and Dhcr 7 gene mutation frequencies in the Malian population will be very informative. PCR coupled with restriction enzyme digestion can be used to screen the targeted gene mutations. Sanger sequencing will be used for confirmation only. This will cut down considerably the sequencing cost for gene-to-gene mutation screening. The knowledge of the 3D structure and potential impact of the mutations on Mef2c protein informed the protein family and altered function (ex. Leu38Gln). Conclusion & Future Work: Bio-informatics will positively impact autism research in Mali. Our approach can be applied to another neuropsychiatric disorder.

Keywords: bioinformatics, endonucleases, autism, Sanger sequencing, point mutations

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Authors: Kauser Jahan, Jason Halvorsen, Kara Banks, Kara Natoli, Elizabeth McWeeney, Brittany LeMasney, Nicole Caramanna, Justin Hillman, Christopher Hauske, Meghan Sparks

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The Virtual Engineers on Wheels (ViEW) is a revised version of our established mobile K-12 outreach program Engineers on Wheels in order to address the pandemic. The Virtual Engineers on Wheels' (VIEW) goal has stayed the same as in prior years: to provide K-12 students and educators with the necessary resources to peak interest in the expanding fields of engineering. With these trying times, the Virtual Engineers on Wheels outreach has adapted its medium of instruction to be more seamless with the online approach to teaching and outreach. In the midst of COVID-19, providing a safe transfer of information has become a constraint for research. The focus has become how to uphold a level of quality instruction without diminishing the safety of those involved by promoting proper health practices and giving hope to students as well as their families. Furthermore, ViEW has created resources on effective strategies that minimize risk factors of COVID-19 and inform families that there is still a promising future ahead. To obtain these goals while still maintaining true to the hands-on learning that is so crucial to young minds, the approach is online video lectures followed by experiments within different engineering disciplines. ViEW has created a comprehensive website that students can leverage to explore the different fields of study. One of the experiments entails teaching about drone usage and how it might play a factor in the future of unmanned deliveries. Some of the other experiments focus on the differences in mask materials and their effectiveness, as well as their environmental outlook. Having students perform from home enables them a safe environment to learn at their own pace while still providing quality instruction that would normally be achieved in the classroom. Contact information is readily available on the website to provide interested parties with a means to ask their inquiries. As it currently stands, the interest in engineering/STEM-related fields is underrepresented from women and certain minority groups. So alongside the desire to grow interest, helping balance the scales is one of the main priorities of VIEW. In previous years, VIEW surveyed students before and after instruction to see if their perception of engineering has changed. In general, it is the understanding that being exposed to engineering/STEM at a young age increases the chances that it will be pursued later in life.

Keywords: STEM, engineering outreach, teaching pedagogy, pandemic

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Authors: Lovis Ingrid Hakala

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This paper provides an example of how the dating app Tinder can be used as a tool in queer research and what the use of the app among lesbians can tell us about the production of particular kinds of lesbian identities paired with technology. This study seeks to understand the ways in which the app is understood by lesbian women and how it is brought into their understandings of what being a lesbian means. Dating apps are becoming increasingly common as tools for meeting a potential partner and research has shown how these apps gain new meaning depending on the context. This paper will show both how Tinder has gained a particular meaning in a lesbian context in Bologna, and also how the use of Tinder produces specific ideas of what lesbians are and how they act. While doing ethnographic fieldwork among young lesbians (20-30 years old) in Bologna in the autumn of 2017, as a part of the research methodology, Tinder was used together with interviews and participant observation. By signing up on Tinder and contacting potential informants on the app the aim was to reach women who were not necessarily involved in the queer activist spaces in the city and who might thus provide a different perspective than their activist counterparts. Using Tinder as a tool in research proved to be a useful methodology both when it came to contacting potential informants as well as in gaining a better understanding for queer identity building, and the role Tinder played in defining lesbianism in Bologna. The app itself was often deemed useless, and informants often complained about the lack of women on the app who had their profile showing an interest in women. Apart from being away for the interlocutors to get in touch with potential romantic or sexual partners, the app did provide a concrete object around which to define particular lesbian behavior. Lesbians were described to be slow at answering and not being very eager to meet. This placed lesbian women, in contrast to gay men who were seen as doing the opposite, using dating apps a lot and be quick to propose meetings. Tinder among lesbians in Bologna thus proved to have a dual function as both a way of creating connections between queer women but also as a tool to define what a lesbian is. This paper provides insight into the ways in which dating apps provides a community and identity building function and how a certain behavior on said apps can be a part of defining identity. This work stands out among other literature on dating apps since it does not only focus on the methodological aspects of using Tinder as a tool in research but also provides an insight in how the way in which individuals use the app comes to add to an understanding of what a lesbian is.

Keywords: dating apps, identity, Italy, lesbian, queer

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Authors: F. Ambreen, A.Naheed

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Osteoarthritis (OA) is a degenerative disorder affecting millions of people worldwide. Nitric oxide (NO) was found to play a catabolic role in the development of osteoarthritis. It is a toxic free radical gas generated during the metabolism of L-arginine by the enzyme Nitric oxide synthase (NOS). Inducible Nitric Oxide Synthase (iNOS) is one of the isoform of NOS, and its overexpression leads to the excessive formation of NO that results in pathophysiological joint conditions. Several synthetic anti-inflammatory drugs and inhibitors are present to date, but all showed side effects and complications. Therefore, the pursuit of natural disease-modifying drugs remains a top priority. Curcumin is an active component of turmeric, and the past few decades have witnessed intense research devoted to the antioxidant and anti-inflammatory properties of curcumin. The present study focused on curcumin and its derivatives in the search for new iNOS inhibitors for the treatment of osteoarthritis. We conducted a molecular docking study on curcumin and its four derivatives; cyclocurcumin, tetrahydrocurcumin, demethoxycurcumin and curcumin monoglucoside with iNOS using CLC Drug discovery work bench 3.02. We selected two co-crystallized ligands for this study; tetrahydrobiopterin and N-omega-propyl-L-arginine present in complex with the enzyme iNOS. Results showed the best binding affinity of N-omega-propyl-L-arginine with cyclocurcumin and curcumin monoglucoside that exhibit binding energies of -65.2 kcal/mol and -68 kcal/mol respectively. Whereas with tetrahydrobiopterin, best binding scores of -64.7 kcal/mol and -62.2 kcal/mol were found with tetrahydrocurcumin and demethoxycurcumin respectively. This information could open doors of research for the designing of novel drugs using herbs such as curcumin for the treatment of inflammatory joint diseases.

Keywords: curcumin, iNOS, molecular docking, osteoarthritis

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Authors: Pragathi Gurumurthy, Christina Hagen, Patricia Ulloa, Martin A. Koch, Thorsten M. Buzug

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Obstructive sleep apnea (OSA) is a sleep disorder where the patient suffers a disturbed airflow during sleep due to partial or complete occlusion of the pharyngeal airway. Recently, numerical simulations have been used to better understand the mechanism of pharyngeal collapse. However, to gain confidence in the solutions so obtained, an experimental validation is required. Therefore, in this study an experimental validation of computational fluid dynamics (CFD) used for the study of human pharyngeal flow patterns during OSA is performed. A stationary incompressible Navier-Stokes equation solved using the finite element method was used to numerically study the flow patterns in a computed tomography-based human pharynx model. The inlet flow rate was set to 250 ml/s and such that a flat profile was maintained at the inlet. The outlet pressure was set to 0 Pa. The experimental technique used for the validation of CFD of fluid flow patterns is phase contrast-MRI (PC-MRI). Using the same computed tomography data of the human pharynx as in the simulations, a phantom for the experiment was 3 D printed. Glycerol (55.27% weight) in water was used as a test fluid at 25°C. Inflow conditions similar to the CFD study were simulated using an MRI compatible flow pump (CardioFlow-5000MR, Shelley Medical Imaging Technologies). The entire experiment was done on a 3 T MR system (Ingenia, Philips) with 108 channel body coil using an RF-spoiled, gradient echo sequence. A comparison of the axial velocity obtained in the pharynx from the numerical simulations and PC-MRI shows good agreement. The region of jet impingement and recirculation also coincide, therefore validating the numerical simulations. Hence, the experimental validation proves the reliability and correctness of the numerical simulations.

Keywords: computational fluid dynamics, experimental validation, phase contrast-MRI, obstructive sleep apnea

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Authors: E. Syngelaki, C. C. F. Schinkel, S. Klatt, E. Hörandl

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Environmental influence can alter the conditions for plant development and can trigger changes in epigenetic variation. Thus, the exposure to abiotic environmental stress can lead to different DNA methylation profiles and may have evolutionary consequences for adaptation. Epigenetic control mechanisms may further influence mode of reproduction. The alpine species R. kuepferi has diploid and tetraploid cytotypes, that are mostly sexual and facultative apomicts, respectively. Hence, it is a suitable model system for studying the correlations of mode of reproduction, ploidy, and environmental stress. Diploid and tetraploid individuals were placed in two climate chambers and treated with low (+7°C day/+2°C night, -1°C cold shocks for three nights per week) and warm (control) temperatures (+15°C day/+10°C night). Subsequently, methylation sensitive-Amplified Fragment-Length Polymorphism (AFPL) markers were used to screen genome-wide methylation alterations triggered by stress treatments. The dataset was analyzed for four groups regarding treatment (cold/warm) and ploidy level (diploid/tetraploid), and also separately for full methylated, hemi-methylated and unmethylated sites. Patterns of epigenetic variation suggested that diploids differed significantly in their profiles from tetraploids independent from treatment, while treatments did not differ significantly within cytotypes. Furthermore, diploids are more differentiated than the tetraploids in overall methylation profiles of both treatments. This observation is in accordance with the increased frequency of apomictic seed formation in diploids and maintenance of facultative apomixis in tetraploids during the experiment. Global analysis of molecular variance showed higher epigenetic variation within groups than among them, while locus-by-locus analysis of molecular variance showed a high number (54.7%) of significantly differentiated un-methylated loci. To summarise, epigenetic variation seems to depend on ploidy level, and in diploids may be correlated to changes in mode of reproduction. However, further studies are needed to elucidate the mechanism and possible functional significance of these correlations.

Keywords: apomixis, cold stress, DNA methylation, Ranunculus kuepferi

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Authors: Francesca Favero, Despina Learmonth

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Carbohydrate addiction is said to be the sustained dependence on hyperpalatable foods rich in carbohydrates and sugar. This addiction manifests in increased consumption of carbohydrates through binging: a behaviour typically associated with eating disorders. There is a lack of consensus amongst relevant experts as to whether carbohydrates are physiologically or psychologically addictive. With an increased focus on carbohydrate addiction, an outpatient treatment programme, HELP, has been established in Cape Town, South Africa, to specifically address this issue. This research aimed to explore, pre-and post-intervention, the possible presence of, and subsequent shifts in, the maintaining mechanisms identified in the transdiagnostic model for eating disorders. However, the potential for the emergence of other perpetuating factors was not discounted and the nature of the analysis allowed for this possibility. Eight women between the ages of twenty-two and fifty, who had completed the outpatient treatment programme in the last six months, were interviewed. They were asked to speak retrospectively about their personal difficulties, eating and food, and their experience of the treatment. Thematic analysis was employed to identify themes arising from the data. Five themes congruent with the transdiagnostic model’s factors emerged: over-evaluation of weight and shape, core low self-esteem, interpersonal difficulties, clinical perfectionism and mood intolerance. A variety of sub-themes, elaborating upon the various ways in which the disordered eating was maintained, also emerged from the data. Shifts in these maintaining mechanisms were identified. Although not necessarily indicative of recovery, the results suggest that the outpatient HELP programme had a positive overall influence on the participants; and that the transdiagnostic model may be useful in understanding and guiding the treatment of clients who engage in this type of treatment programme.

Keywords: eating disorders, binge eating disorder, carbohydrate addiction, transdiagnostic model, maintaining mechanisms, thematic analysis, outpatient treatment

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Authors: Shang-Yu Chiang, Yu-Shan Tsai, Shih-Hsien Sung, Chung-Ming Lo

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Mitral regurgitation (MR) is a heart disorder which the mitral valve does not close properly when the heart pumps out blood. MR is the most common form of valvular heart disease in the adult population. The diagnostic echocardiographic finding of MR is straightforward due to the well-known clinical evidence. In the determination of MR severity, quantification of sonographic findings would be useful for clinical decision making. Clinically, the vena contracta is a standard for MR evaluation. Vena contracta is the point in a blood stream where the diameter of the stream is the least, and the velocity is the maximum. The quantification of vena contracta, i.e. the vena contracta width (VCW) at mitral valve, can be a numeric measurement for severity assessment. However, manually delineating the VCW may not accurate enough. The result highly depends on the operator experience. Therefore, this study proposed an automatic method to quantify VCW to evaluate MR severity. Based on color Doppler ultrasound, VCW can be observed from the blood flows to the probe as the appearance of red or yellow area. The corresponding brightness represents the value of the flow rate. In the experiment, colors were firstly transformed into HSV (hue, saturation and value) to be closely align with the way human vision perceives red and yellow. Using ellipse to fit the high flow rate area in left atrium, the angle between the mitral valve and the ultrasound probe was calculated to get the vertical shortest diameter as the VCW. Taking the manual measurement as the standard, the method achieved only 0.02 (0.38 vs. 0.36) to 0.03 (0.42 vs. 0.45) cm differences. The result showed that the proposed automatic VCW extraction can be efficient and accurate for clinical use. The process also has the potential to reduce intra- or inter-observer variability at measuring subtle distances.

Keywords: mitral regurgitation, vena contracta, color doppler, image processing

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Authors: L. Mercier, D. Beladjine, K. Beddiar

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The digital transition of building in France brings many changes which some have been able to face very quickly, while others are struggling to find their place and the interest that BIM can bring in their profession. BIM today is already adopted or initiated by construction professionals. However, this change, which can be drastic for some, prevents them from integrating it definitively. This is the case with architects. The profession is shared on the practice of BIM in its exercise. The risk of not adopting this new working method now and of not wanting to switch to its new digital tools leads us to question the future of the profession in view of the gap that is likely to be created within project management. In order to deal with the subject efficiently, our work was based on a documentary watch on BIM and then on the profession of architect, which allowed us to establish links on these two subjects. The observation of the economic model towards which the agencies tend and the trend of the sought after profiles made it possible to develop the opportunities and the brakes likely to impact the future of the profession of architect. The centralization of research directs work towards the conclusion that the model implemented by companies does not allow to integrate BIM within their structure. A solution hypothesis was then issued, focusing on the development of agencies through the diversity of profiles, skills to be integrated internally with the aim of diversifying their skills, and their business practices. In order to address this hypothesis of a multidisciplinary agency model, we conducted a survey of architectural firms. It is built on the model of Anglo-Saxon countries, which do not have the same functioning in comparison to the French model. The results obtained showed a risk of gradual disappearance on the market from small agencies in favor of those who will have and could take this BIM working method. This is why the architectural profession must, first of all, look at what is happening within its training before absolutely wanting to diversify the profiles to integrate into its structure. This directs the study on the training of architects. The schools of French architects are generally behind schedule if we allow the comparison to the schools of engineers. The latter is currently experiencing a slight improvement with the emergence of masters and BIM options during the university course. If the training of architects develops towards learning BIM and the agencies have the desire to integrate different but complementary profiles, then they will develop their skills internally and therefore open their profession to new functions. The place of BIM Management on projects will allow the architect to remain in control of the project because of their overall vision of the project. In addition, the integration of BIM and more generally of the life cycle analysis of the structure will make it possible to guarantee eco-design or eco-construction by approaching the constraints of sustainable development omnipresent on the planet.

Keywords: building information modelling, BIM, BIM management, BIM manager, BIM architect

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Authors: Beom-Seok Ko, Yoo-Seok Kim, Woo-Sung Lim, Ku-Sang Kim, Hyun-Ah Kim, Jin-Sun Lee, An-Bok Lee, Jin-Gu Bong, Tae-Hyun Kim, Sei-Hyun Ahn

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Background: Breast conserving surgery (BCS) followed by radiation therapy is today standard therapy for early breast cancer. It is safe therapeutic procedure in early breast cancers, because it provides the same level of overall survival as mastectomy. There are a number of different types of incisions used to BCS. Avoiding scars on the breast is women’s desire. Numerous minimal approaches have evolved due to this concern. Periareolar incision is often used when the small tumor relatively close to the nipple. But periareolar incision has a disadvantages include limited exposure of the surgical field. In plastic surgery, various methods such as zigzag incisions have been recommended to achieve satisfactory esthetic results. Periareolar zigzag incision has the advantage of not only good surgical field but also contributed to better surgical scars. The purpose of this study was to evaluate the oncological safety of procedures by studying the status of the surgical margins of the excised tumor specimen and reduces the need for further surgery. Methods: Between January 2016 and September 2016, 148 women with breast cancer underwent BCS or mastectomy by the same surgeon in ASAN medical center. Patients with exclusion criteria were excluded from this study if they had a bilateral breast cancer or underwent resection of the other tumors or taken axillary dissection or performed other incision methods. Periareolar zigzag incision was performed and excision margins of the specimen were identified frozen sections and paraffin-embedded or permanent sections in all patients in this study. We retrospectively analyzed tumor characteristics, the operative time, size of specimen, the distance from the tumor to nipple. Results: A total of 148 patients were reviewed, 72 included in the final analysis, 76 excluded. The mean age of the patients was 52.6 (range 25-19 years), median tumor size was 1.6 cm (range, 0.2-8.8), median tumor distance from the nipple was 4.0 cm (range, 1.0-9.0), median excised specimen sized was 5.1 cm (range, 2.8-15.0), median operation time was 70.0 minute (range, 39-138). All patients were discharged with no sign of infection or skin necrosis. Free resection margin was confirmed by frozen biopsy and permanent biopsy in all samples. There were no patients underwent reoperation. Conclusions: We suggest that periareolar zigzag incision can provide a good surgical field to remove a relatively large tumor and may provide cosmetically good outcomes.

Keywords: periareolar zigzag incision, breast conserving surgery, breast cancer, resection margin

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Authors: Anukriti Verma, Bhawna Rathi, Shivani Sharda

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Reactive Arthritis (ReA) is a disorder that causes inflammation in joints due to certain infections at distant sites in the body. ReA begins with stiffness, pain, and inflammation in these areas especially the ankles, knees, and hips. It gradually causes several complications such as conjunctivitis in the eyes, skin lesions in hand, feet and nails and ulcers in the mouth. Nowadays the diagnosis of ReA is based upon a differential diagnosis pattern. The parameters for differentiating ReA from other similar disorders include physical examination, history of the patient and a high index of suspicion. There are no standard lab tests or markers available for ReA hence the early diagnosis of ReA becomes difficult and the chronicity of disease increases with time. It is reported that enteric disorders such as Inflammatory Bowel Disease (IBD) that is inflammation in gastrointestinal tract namely Crohn’s Disease (CD) and Ulcerative Colitis (UC) are reported to be linked with ReA. Several microorganisms are found such as Campylobacter, Salmonella, Shigella and Yersinia causing IBD leading to ReA. The aim of our study was to perform the in-silico analysis in order to find interactions between microorganisms and human host causing IBD leading to ReA. A systems biology approach for metabolic network reconstruction and simulation was used to find the essential genes of the reported microorganisms. Interactomics study was used to find the interactions between the pathogen genes and human host. Genes such as nhaA (pathogen), dpyD (human), nagK (human) and kynU (human) were obtained that were analysed further using the functional, pathway and network analysis. These genes can be used as putative drug targets and biomarkers in future for early diagnosis, prevention, and treatment of IBD leading to ReA.

Keywords: drug targets, inflammatory bowel disease, reactive arthritis, systems biology

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Authors: Debra L. Stanley, Gabriela Wasileski

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Offenders face many challenges as they transition from being incarcerated to the community, ranging from housing and employment needs to long standing problems with addictions and mental health issues. A lack of appropriate behavioral health services in the more remote parts of the United States has led to a significant illegal substance abuse problem, housing instability, and unaddressed mental health and trauma issues. High rates of poverty and unemployment exacerbate the growing behavioral health issues, drug overdoses, co-occurring disorders, and crime that are so prevalent across rural communities. This study examines the challenges of rural jail reentry faced by offenders in a treatment capacity. The client-centered evidence-based program is uniquely designed to provide continuity of care that focuses on issues which affect rural communities. Prior to release from jail, individuals go through comprehensive assessment screenings to measure mental health and substance use disorder as well as trauma and prior crime victimization histories; the assessments help to target client-specific services. The quasi-experimental research design tracks clients throughout their recovery and reintegration into the community. Individuals in a rural program often do not have the benefit of easy access or peer mentoring that is so often found in urban recovery programs. Therefore, much of the support is provided through telehealth and e-services. The goal of this study is to explore the nature of rural reentry programs and measures of recidivism, drug overdoses, and other behavioral health needs and successful reentry to include stable housing and employment.

Keywords: jail reentry, rehabilitation, behavioral health, drug abuse, recidivism

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Authors: Mohammed Panthakkal Abdul Muthalif, Shanmugasundaram Kanagaraj, Jumi Park, Hangyu Park, Youngson Choe

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The present study reports the incorporation of calcium ions into the CuS counter electrodes (CEs) in order to modify the photovoltaic performance of quantum dot-sensitized solar cells (QDSSCs). Metal ion-doped CuS thin film was prepared by the chemical bath deposition (CBD) method on FTO substrate and used directly as counter electrodes for TiO₂/CdS/CdSe/ZnS photoanodes based QDSSCs. For the Ca-doped CuS thin films, copper nitrate and thioacetamide were used as anionic and cationic precursors. Calcium nitrate tetrahydrate was used as doping material. The surface morphology of Ca-doped CuS CEs indicates that the fragments are uniformly distributed, and the structure is densely packed with high crystallinity. The changes observed in the diffraction patterns suggest that Ca dopant can introduce increased disorder into CuS material structure. EDX analysis was employed to determine the elemental identification, and the results confirmed the presence of Cu, S, and Ca on the FTO glass substrate. The photovoltaic current density – voltage characteristics of Ca-doped CuS CEs shows the specific improvements in open circuit voltage decay (Voc) and short-circuit current density (Jsc). Electrochemical impedance spectroscopy results display that Ca-doped CuS CEs have greater electrocatalytic activity and charge transport capacity than bare CuS. All the experimental results indicate that 20% Ca-doped CuS CE based QDSSCs exhibit high power conversion efficiency (η) of 4.92%, short circuit current density of 15.47 mA cm⁻², open circuit photovoltage of 0.611 V, and fill factor (FF) of 0.521 under illumination of one sun.

Keywords: Ca-doped CuS counter electrodes, surface morphology, chemical bath deposition method, electrocatalytic activity

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Authors: Zafer Sakka, Husain Al-Khaiat

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Due to social and economic considerations, owners all over the world desire to keep and use existing structures, including aging ones. However, these structures, especially those that are dear, need accurate condition assessment, and proper safety evaluation. More than half of the budget spent on construction activities in developed countries is related to the repair and maintenance of these reinforced concrete (R/C) structures. Also, periodical evaluation and assessment of relatively old concrete structures are vital and imperative. If the evaluation and assessment of structural components of a particular aging R/C structure reveal that repairs are essential for these components, these repairs should not be delayed. Delaying the repairs has the potential of losing serviceability of the whole structure and/or causing total failure and collapse of the structure. In addition, if repairs are delayed, the cost of maintenance will skyrocket as well. It can also be concluded from the above that the assessment of existing needs to receive more consideration and thought from the structural engineering societies and professionals. Ten major existing structures in Kuwait city that were constructed in the 1970s were assessed for structural reliability and integrity. Numerous concrete samples were extracted from the structural systems of the investigated buildings. This paper presents the results of the compressive strength tests that were conducted on the extracted cores. The results are compared for the buildings’ columns and beams elements and compared with the design strengths. The collected data were statistically analyzed. The average compressive strengths of the concrete cores that were extracted from the ten buildings had a large variation. The lowest average compressive strength for one of the buildings was 158 kg/cm². This building was deemed unsafe and economically unfeasible to be repaired; accordingly, it was demolished. The other buildings had an average compressive strengths fall in the range 215-317 kg/cm². Poor construction practices were the main cause for the strengths. Although most of the drawings and information for these buildings were lost during the invasion of Kuwait in 1990, however, information gathered indicated that the design strengths of the beams and columns for most of these buildings were in the range of 280-400 kg/cm². Following the study, measures were taken to rehabilitate the buildings for safety. The mean compressive strength for all cores taken from beams and columns of the ten buildings was 256.7 kg/cm². The values range was 139 to 394 kg/cm². For columns, the mean was 250.4 kg/cm², and the values ranged from 137 to 394 kg/cm². However, the mean compressive strength for the beams was higher than that of columns. It was 285.9 kg/cm², and the range was 181 to 383 kg/cm². In addition to the concrete cores that were extracted from the ten buildings, the 28-day compressive strengths of more than 24,660 concrete cubes were collected from a major ready-mixed concrete supplier in Kuwait. The data represented four different grades of ready-mix concrete (250, 300, 350, and 400 kg/cm²) manufactured between the year 2003 and 2018. The average concrete compressive strength for the different concrete grades (250, 300, 350 and 400 kg/cm²) was found to be 318, 382, 453 and 504 kg/cm², respectively, and the coefficients of variations were found to be 0.138, 0.140, 0.157 and 0.131, respectively.

Keywords: concrete compressive strength, concrete structures, existing building, statistical analysis.

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Authors: Pamela K. Coke, Heidi Frederiksen, Ann Sebald

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Over the past three years, the researchers have been tracking a rise in the number of teacher education candidates leaving the field before completing their university’s educator preparation program. At their institution, this rise is most pronounced in English Education. The purpose of this qualitative research study is to understand English Education teacher candidates' expectations in becoming prepared educators at each phase of their four phase teacher education program at one institution of higher education in the United States. Research questions include: To what extent do we find differences in teacher candidates' expectations of their teacher training program and student teaching experiences based upon undergraduate and graduate programs? Why do (or do not) teacher candidates persist in their teacher training program and student teaching experiences? How do dispositions develop through the course of the teacher training program? What supports do teacher candidates self-identify as needing at each phase of the teacher training program? Based upon participant interviews at each phase of the teacher education program, the researchers, all teacher educators, examine the extent to which English Education students feel prepared to student teach, focusing on preparation, persistence, and dispositions. The Colorado State University Center for Educator Preparation (CEP) provides students with information about teaching dispositions, or desired professional behaviors, throughout their education program. CEP focuses these dispositions around nine categories: Professional Behaviors, Initiative and Dependability, Tact and Judgment, Ethical Behavior and Integrity, Collegiality and Responsiveness, Effective Communicator, Desire to Improve Own Performance, Culturally Responsive, and Commitment to the Profession. Currently, in the first phase of a four phase study, initial results indicate participants expect their greatest joys will be working with and learning from students. They anticipate their greatest challenges will involve discipline and confidence. They predict they will persist in their program because they believe the country needs well-prepared teachers and they have a commitment to their professional growth. None of the participants thus far could imagine why they would leave the program. With regard to strongest and weakest dispositions, results are mixed. Some participants see Tact and Judgment as their strongest disposition; others see it as their weakest. All participants stated mentoring is a necessary support at every phase of the teacher preparation process. This study informs the way teacher educators train and evaluate teacher candidates, and has implications for the frequency and types of feedback students receive from mentors and supervisors. This research contributes to existing work on teacher retention, candidate persistence, and dispositional development.

Keywords: English education, dispositions, persistence, teacher preparation

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Authors: Maryam Ghavam Sadri, Kimia Moiniafshari

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Objectives: Autism is a neuro-developmental disorder that has negative effects on verbal, mental and behavioral development. Studies have shown the role of a maternal dietary pattern before and during pregnancy. The relation of exerting of nutritional management programs in prevention of Autism has been approved. This review article has been made to investigate the role of nutritional management strategies before and during pregnancy in the prevention of Autism. Methods: This review study was accomplished by using the keywords related to the topic, 67 articles were found (2000-2015) and finally 20 article with criteria such as including maternal lifestyle, nutritional deficiencies and Autism prevention were selected. Results: Maternal dietary pattern and health before and during pregnancy have important roles in the incidence of Autism. Studies have suggested that high dietary fat intake and obesity can increase the risk of Autism in offspring. Maternal metabolic condition specially gestational diabetes (GDM) (p-value < 0.04) and folate deficiency (p-value = 0.04) is associated with risk of Autism. Studies have shown that folate intake in mothers with autistic children is less than mothers who have typically developing children (TYP) (p-value<0.01). As folate is an essential micronutrient for fetus mental development, consumption of average 600 mcg/day especially in P1 phase of pregnancy results in significant reduction in incidence of Autism (OR:1.53, 95%CI=0.42-0.92, p-value = 0.02). furthermore, essential fatty acid deficiency especially omega-3 fatty acid increases the rate of Autism and consumption of supplements and food sources of omega-3 can decrease the risk of Autism up to 34% (RR=1.53, 95%CI=1-2.32). Conclusion: regards to nutritional deficiency and maternal metabolic condition before and during pregnancy in prevalence of Autism, carrying out the appropriate nutritional strategies such as well-timed folate supplementation before pregnancy and healthy lifestyle adherence for prevention of metabolic syndrome (GDM) seems to help Autism prevention.

Keywords: autism, autism prevention, dietary inadequacy, maternal lifestyle

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Authors: Christopher S. Perez, Kendal C. Boyd

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global suicide rates have decreased in recent decades, rates in the United States have increased by 35.2 percent since 1999.American Indians and Alaska Natives (AI/AN) have the highest rates of suicide in the U.S., with approximately 22 suicides per 100,000 people as of 2019. AI/AN have experienced significant historical trauma resulting in disproportionate rates of substance abuse and mental disorders. This literature review aimed to identify the demographic and clinical risk and protective factors for American Indians and Alaska Natives and provide an overview of suicidality in this population. The literature reflected varying definitions of suicidality depending on region, with some AI/AN tribesconceptualizing suicide through a spiritual framework, while others defined suicide in the biomedical sense. Furthermore, AI/AN adults and adolescents experienced higher rates of suicidal ideation when compared to other racial groups. Religious preference, sexual orientation, prior suicidal behavior, psychiatric admission, history of abuse, substance abuse, family history of mental illness, family history of substance abuse, family history of suicidal behaviors, domestic violence, and trauma were discussed as factors related to suicidality. Recommendations included increasing access to and utilization of mental health and medical services, culturally adapting suicide prevention programs to AI/AN communities, increasing support for LGBTQ+ AI/AN, providing opportunities that reinforce ethnic identity, and post-hospitalization follow-up care. The following databases were utilized to obtain peer-reviewed articles for this literature review: Complementary Index, Academic Search Premier, Science Direct, PsycInfo, Social Sciences Citation Index, PsycArticles, PubMed, EbscoHost, and PsycBooks. Articles that examined Native populations outside of the United States did not cite a primary source and/or were published before 1990 were excluded.

Keywords: alaska native, american indian, protective factors, risk factors, suicidality, suicide

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Authors: Fernando Valerio-Holguin

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Over the recent three decades, the tourism industry in the Dominican Republic has had an enormous impact on the country’s culture. The arrival of tourists from Germany, France, Italy, Russia and the United States has rewritten Dominican cultural identity and created a cultural palimpsest in the areas of language, gastronomy, habits, fashion, values, and gender relations. As a consequence of tourism, a prostitution network has flourished across the country. In the film Sand Dollars (2015) directed by Laura Amelia Guzmán and Israel Cárdenas, Noelí (Janet Mojica), a young mulatto woman, altogether with her boyfriend (Ricardo Ariel Toribio), strips tourists of dollars and euro through prostitution. One of her frequent clients is Anne, a mature French woman (Geraldine Chaplin). While Noeli’s goal is to get all the euros she can, Anne falls in love with her and tries to bring her to France. Both the content of the film and its cinematographic languages are analyzed in light of theory of coloniality. This concept shows how European and American tourism, through the power of money, perpetuates colonial discourse, i. e., how race and ethnocentrism permeate cultural activities in their former colonies. Moreover, in the content analysis of the film the concepts of exchange value and fetishism are crucial to understanding how the colonial body becomes sexual commodity. They facilitate grasping the film’s inequity in terms of power in the relationship between the two women: the white old European woman and the young, poor, third-world mulatta. Even though the film attempts to break away from compulsory heterosexuality, the power relation between the two women persists due to the presence of the axis of race, ethnicity, age and gender. Both the novel Les dollars des sables written by Jean-Noel Pancrazi, and the film Sand Dollars offer an interesting insight into sex tourism and coloniality and shed additional light on the power relations between the former colonizers and its colonies.

Keywords: coloniality, ethnocentrism, exchange value, Europe, fetishism, money, power, prostitution, sex tourism, United States of America

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Authors: André Furtado, Rafael Mineiro, Isabel Gonçalves, Cecília Santos, Telma Quintela

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The development of therapies for central nervous system (CNS) disorders is one of the biggest challenges of current pharmacology, given the unique features of brain barriers, which limit drug delivery. Efflux transporters (ABC transporters) expressed at the blood-cerebrospinal fluid barrier (BCSFB), are the main obstacles for the delivery of therapeutic compounds into the CNS, compromising the effective treatment of brain cancer, brain metastasis from peripheral cancers, or even neurodegenerative disorders. It is thus extremely important to understand the regulation of these transporters for reducing their expression while treating a brain disorder or choosing the most appropriate conditions for drug administration. Based on the fact that the BCSFB have fine-tuned biological rhythms, studying the circadian variation of drug transport processes is critical for choosing the most appropriate time of the day for drug administration. In our study, using an in vitro model of the BCSFB, we characterized the circadian transport profile of methotrexate (MTX) and donepezil (DNPZ), two drugs involved in the treatment of cancer and Alzheimer’s Disease symptoms, respectively. We found that MTX is transported across the basal and apical membranes of the BCSFB in a circadian way. The circadian pattern of an ABC transporter, Abcc4, might be partially responsible for MTX circadian transport. Furthermore, regarding the DNPZ transport study, we observed that the regulation of Abcg2 expression by the circadian rhythm will impact the circadian-dependent transport of DNPZ across the BCSFB. Overall, our results will contribute to the current knowledge on brain pharmacoresistance at the BCSFB by disclosing how circadian rhythms control drug delivery to the brain, setting the grounds for a potential application of chronotherapy to brain diseases to enhance the efficacy of medications and minimize their side effects.

Keywords: blood-cerebrospinal fluid barrier, ABC transporters, drug transport, chronotherapy

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Authors: Kai Pei Huang, Ting Chung Hung, Li Ching Wu

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Amyloidosis refers to a variety of conditions wherein amyloid proteins are abnormally deposited in organ or tissues and cause harm. Among the several forms of amyloidosis, the principal types of that in inpatient medical services are the AL amyloidosis (primary) and AA amyloidois (secondary). AL Amyloidois is due to deposition of protein derived from overproduction of immunoglobulin light chain in plasma cell myeloma. Furthermore, it is a systemic disorder that can present with a variety of symptoms, including heavy proteinemia and edema, heptosplenomegaly, otherwise unexplained heart failure. We reported a 78-year-old female presenting dysuria, oliguria and leg edema for several months. Laboratory data showed proteinuria (UPCR:1679.8), leukocytosis (WBC:16.2 x 10^3/uL), results of serum urea nitrogen (39mg/dL), creatinine (0.76 mg/dL), IgG (748 mg/dL.), IgA (635 mg/dL), IgM (63 mg/dL), kappa light chain(18.8 mg/dL), lambda light chain (110.0 mg/dL) and kappa/lambda ratio (0.17). Renal biopsy found amyloid fibrils in glomerular mesangial area, and Congo red stain highlights amyloid deposition in glomeruli. Additional lab studies included serum protein electrophoresis, which shows a major monoclonal peak in β region and minor small peak in gamma region, and the immunotyping studies for serum showed two IgA/λ type. We treated sample with beta-mercaptoethanol which reducing the polymerized immunoglobulin to clarify two IgA/λ are secreted from the same plasma cell clone in bone marrow. Later examination confirmed it existed plasma cell infiltration in bone marrow, and the immunohistochemical staining showed monotypic for λ light chain and are positive for IgA. All findings mentioned above reveal it is a case of plasma cell myeloma with λ Light Chain Amyloidosis.

Keywords: amyloidosis, immunoglobulin light chain, plasma cell myeloma, serum protein electrophoresis

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Authors: Murat Emre, Zeynep Tufekcioglu

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Objective: We describe a patient with late onset phenylketonuria which presented with rapidly progressive dementia and parkinsonism that were reversible after management. Background: Phenylketonuria is an autosomal recessive disorder due to mutations in the phenylalanine hydroxlase gene. It normally presents in childhood, in rare cases, however, it may have its onset in adulthood and may mimic other neurological disorders. Case description: A previously normal functioning, 59 year old man was admitted for blurred vision, cognitive impairment and gait difficulty which emerged over the past eight months. In neurological examination he had brisk reflexes, slow gait and left-dominant parkinsonism. Mini-mental state examination score was 25/30, neuropsychological testing revealed a dysexecutive syndrome with constructional apraxia and simultanagnosia. In cranial MRI there were bilateral diffuse hyper-intense lesions in parietal and occipital white matter with no significant atrophy. Electroencephalography showed diffuse slowing with predominance of teta waves. In cerebrospinal fluid examination protein level was slightly elevated (61mg/dL), oligoclonal bands were negative. Electromyography was normal. Routine laboratory examinations for rapidly progressive dementia and parkinsonism were also normal. Serum amino acid levels were determined to explore metabolic leukodystrophies and phenylalanine level was found to be highly elevated (1075 µmol/L) with normal tyrosine (61,20 µmol/L). His cognitive impairment and parkinsonian symptoms improved following three months of phenylalanine restricted diet. Conclusions: Late onset phenylketonuria is a rare, potentially reversible cause of rapidly progressive parkinsonism with dementia. It should be considered in the differential diagnosis of patients with suspicious features.

Keywords: dementia, neurology, Phenylketonuria, rapidly progressive parkinsonism

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Authors: Heru Al Amin

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Sarcoidosis is a granulomatous inflammatory disorder of unclear etiology that can affect multiple different organ systems. Isolated cardiac sarcoidosis is a very rare condition that causes lethal arrhythmia and heart failure. A definite diagnosis of cardiac sarcoidosis remains challenging. The use of multimodality imaging plays a pivotal role in the diagnosis of this entity. Case summary: In this report, we discuss a case of a 50-year-old woman who presented with recurrent palpitation, dizziness, vertigo and presyncope. Electrocardiogram revealed variable heart blocks, including first-degree AV block, second-degree AV block, high-degree AV block, complete AV block, trifascicular block and sometimes supraventricular arrhythmia. Twenty-four hours of Holter monitoring show atrial bigeminy, first-degree AV block and trifascicular block. Transthoracic echocardiography showed Thinning of basal anteroseptal and inferred septum with LV dilatation with reduction of Global Longitudinal Strain. A dual-chamber pacemaker was implanted. CT Coronary angiogram showed no coronary artery disease. Cardiac magnetic resonance revealed basal anteroseptal and inferior septum thinning with focal edema with LGE suggestive of sarcoidosis. Computed tomography of the chest showed no lymphadenopathy or pulmonary infiltration. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) of the whole body showed. We started steroids and followed up with the patient. Conclusion: This case serves to highlight the challenges in identifying and managing isolated CS in a young patient with recurrent syncope with variable heart block. Early, even late initiation of steroids can improve arrhythmia as well as left ventricular function.

Keywords: cardiac sarcoidosis, conduction abnormality, syncope, cardiac MRI

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Authors: Shruti Govindarajan

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In-utero gene editing with CRISPR-Cas9 opens up new possibilities for treating genetic disorders during pregnancy while still in mother’s womb. By targeting genetic mutations in the early stages of fetal development, this approach could potentially prevent severe conditions—like cystic fibrosis, sickle cell anemia, and muscular dystrophy—from causing harm. CRISPR-Cas9, which allows precise DNA edits, could be delivered into fetal cells through vectors such as adeno-associated viruses (AAVs) or nanoparticles, correcting disease-causing mutations and possibly offering lifelong relief from these disorders. For families facing severe genetic diagnoses, in-utero gene editing could provide a transformative option. However, technical challenges remain, including ensuring that gene editing only targets the intended cells and verifying long-term safety. Ethical considerations are also at the forefront of this technology. The editing of a fetus's genes brings up difficult questions about consent, especially since these genetic changes will affect the child’s entire life without their input. There's also concern over possible unintended side effects, or changes passed down to future generations. Moreover, if used beyond therapeutic purposes, this technology could be misused for ‘enhancements,’ like selecting for certain physical or cognitive traits, raising concerns about inequality and social pressures. In this way, in-utero gene editing brings both exciting potential and complex moral questions. As research progresses, addressing these scientific and ethical concerns will be key to ensuring that this technology is used responsibly, prioritizing safety, fairness, and a focus on alleviating genetic disease. A cautious and inclusive approach, along with clear regulations, will be essential to realizing the benefits of in-utero gene editing while protecting against unintended consequences.

Keywords: in-utero gene editing, CRISPR, bioethics, genetic disorder

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