Search results for: covid brain

Authors: Peggy M. Randon, Lisa Randon

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Introduction: The post-COVID-19 era has presented unique challenges for addressing complex mental health issues, particularly due to exacerbated stress, increased social isolation, and disrupted continuity of care. This article outlines relevant health disparities and policy implications within the context of the United States while maintaining international relevance. Methods: A comprehensive literature review (including studies, reports, and policy documents) was conducted to examine concerns related to childhood-onset schizophrenia and the impact on patients and their families. Qualitative and quantitative data were synthesized to provide insights into the complex etiology of schizophrenia, the effects of the pandemic, and the challenges faced by socioeconomically disadvantaged populations. Case studies were employed to illustrate real-world examples and areas requiring policy reform. Results: Early intervention in childhood is crucial for preventing or mitigating the long-term impact of complex psychotic disorders, particularly schizophrenia. A comprehensive understanding of the genetic, environmental, and physiological factors contributing to the development of schizophrenia is essential. The COVID-19 pandemic worsened symptoms and disrupted treatment for many adolescent patients with schizophrenia, emphasizing the need for adaptive interventions and the utilization of virtual platforms. Health disparities, including stigma, financial constraints, and language or cultural barriers, further limit access to care, especially for socioeconomically disadvantaged populations. Policy implications: Current US health policies inadequately support patients with schizophrenia. The limited availability of longitudinal care, insufficient resources for families, and stigmatization represent ongoing policy challenges. Addressing these issues necessitates increased research funding, improved access to affordable treatment plans, and cultural competency training for healthcare providers. Public awareness campaigns are crucial to promote knowledge, awareness, and acceptance of mental health disorders. Conclusion: The unique challenges faced by children and families in the US affected by schizophrenia and other psychotic disorders have yet to be adequately addressed on institutional and systemic levels. The relevance of findings to an international audience is emphasized by examining the complex factors contributing to the onset of psychotic disorders and their global policy implications. The broad impact of the COVID-19 pandemic on mental health underscores the need for adaptive interventions and global responses. Addressing policy challenges, improving access to care, and reducing the stigma associated with mental health disorders are crucial steps toward enhancing the lives of adolescents and young adults with schizophrenia and their family members. The implementation of virtual platforms can help overcome barriers and ensure equitable access to support and resources for all patients, enabling them to lead healthy and fulfilling lives.

Keywords: childhood, schizophrenia, policy, United, States, health, disparities

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Authors: Zerubabel Mihret

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Background: Work-related stress is a pattern of reactions to work demands unmatched by worker’s knowledge, skills, or abilities. Healthcare institutions are considered high-risk and intensive work areas for work-related stress. However, there is the nonexistence of clear and strong data about the magnitude of work-related stress on sanitation workers in hospitals in Ethiopia. The aim of this study was to determine the magnitude of work-related stress among sanitation workers in public hospitals during COVID-19 in Addis Ababa, Ethiopia. Methods: Institution-based cross-sectional study was conducted from October 2021 to February 2022 among 494 sanitation workers who were selected from 4 hospitals. HSE (Health and Safety Executive of UK) standard data collection tool was used, and an interviewer-administered questionnaire was used to collect the data using KOBO collect application. The collected data were cleaned and analyzed using SPSS version 20.0. Both binary and multivariable logistic regression analyses were done to identify important factors having an association with work-related stress. Variables with p-value ≤ 0.25 in the bivariate analysis were entered into the multivariable logistic regression model. A statistically significant level was declared at a p-value ≤ 0.05. Results: This study revealed that the magnitude of work-related stress among sanitation workers was 49.2% (95% CI 45-54). Significant proportions (72.7%) of sanitation workers were dissatisfied with their current job. Sex, age, experience, and chewing khat were significantly associated with work-related stress. Conclusion: Work-related stress is significantly high among sanitation workers. Sex, age, experience, and chewing khat were identified as factors associated with work-related stress. Intervention program focusing on the prevention and control of stress is desired by hospitals.

Keywords: work-related stress, sanitation workers, Likert scale, public hospitals, Ethiopia

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Authors: Tahir Khaleeq, Patrick Lancaster, Keji Fakoya, Pedro Ferreira, Usman Ahmed

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Introduction: Virtual fracture clinics (VFC) have been shown to be a safe and cost-effective way of managing outpatient referrals to the orthopaedic department. During the coronavirus pandemic there has been a push to reduce unnecessary patient contact whilst maintaining patient safety. Materials and Methods: A protocol was developed by the clinical team in collaboration with Advanced Physiotherapy Practitioners (APP) on how to manage common musculoskeletal presentations to A&E prior to COVID as part of routine service development. Patients broadly triaged into 4 categories; discharge with advice, referral to VFC, referral to face to face clinic or discussion with on call team. The first 9 months of data were analysed to assess types of injury seen and outcomes. Results: In total 2489 patients were referred to VFC from internal and external sources. 734 patients were discharged without follow-up and 182 patients were discharged for physiotherapy review. Only 3 patients required admission. Regarding follow-ups, 431 patients had a virtual follow-up while 1036 of patients required further face to face follow up. 87 patients were triaged into subspecialty clinics. 37 patients were felt to have been referred inappropriately. Discussion: BOA guidelines suggest all patients need to be reviewed within 72 hours of their orthopaedic injury. Implementation of a VFC allows this target to be achieved and at the same time reduce patient contact. Almost half the patients were discharged following VFC review, the remaining patients were appropriately followed up. This is especially relevant in the current pandemic where reducing unnecessary trips to hospital will benefit the patient as well as make the most of the resources available.

Keywords: virtual fracture clinic, lockdown, trauma and orthopaedics, Covid- 19

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Authors: Ana Lucia Molina

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Transcranial magnetic stimulation (TMS) is a non-invasive neuromodulation technique for the investigation and modulation of cortical excitability in humans. The modulation of the processing of different cortical areas can result in several areas for rehabilitation, showing great potential in the treatment of motor disorders. In the human brain, the supplementary motor area (SMA) is involved in the control of the pelvic floor muscles (MAP), where dysfunctions of these muscles can lead to urinary incontinence. Peripheral magnetic stimulation, specifically sacral magnetic stimulation, has been used as a safe and effective treatment option for patients with lower urinary tract dysfunction. A systematic literature review was carried out (Pubmed, Medline and Google academic database) without a time limit using the keywords: "transcranial magnetic stimulation", "sacral neuromodulation", and "urinary incontinence", where 11 articles attended to the inclusion criteria. Results: Thirteen articles were selected. Magnetic stimulation is a non-invasive neuromodulation technique widely used in the evaluation of cortical areas and their respective peripheral areas, as well as in the treatment of lesions of brain origin. With regard to pelvic-perineal disorders, repetitive transcranial stimulation showed significant effects in controlling urinary incontinence, as well as sacral peripheral magnetic stimulation, in addition to exerting the potential to restore bladder sphincter function. Conclusion: Data from the literature suggest that both transcranial stimulation and peripheral stimulation are non-invasive references that can be promising and effective means of treatment in pelvic and perineal disorders. More prospective and randomized studies on a larger scale are needed, adapting the most appropriate and resolving parameters.

Keywords: urinary incontinence, non-invasive neuromodulation, sacral neuromodulation, transcranial magnetic stimulation.

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Authors: Avyarthana Dey, Naren P. Rao, Arpitha Jacob, Chaitra V. Hiremath, Shivarama Varambally, Ganesan Venkatasubramanian, Rose Dawn Bharath, Bangalore N. Gangadhar

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Objective: Impaired facial emotion recognition is widely reported in schizophrenia. Neuropeptide oxytocin is known to modulate brain regions involved in facial emotion recognition, namely amygdala, in healthy volunteers. However, its effect on facial emotion recognition deficits seen in schizophrenia is not well explored. In this study, we examined the effect of intranasal OXT on processing facial emotions and its neural correlates in patients with schizophrenia. Method: 12 male patients (age= 31.08±7.61 years, education= 14.50±2.20 years) participated in this single-blind, counterbalanced functional magnetic resonance imaging (fMRI) study. All participants underwent three fMRI scans; one at baseline, one each after single dose 24IU intranasal OXT and intranasal placebo. The order of administration of OXT and placebo were counterbalanced and subject was blind to the drug administered. Participants performed a facial emotion recognition task presented in a block design with six alternating blocks of faces and shapes. The faces depicted happy, angry or fearful emotions. The images were preprocessed and analyzed using SPM 12. First level contrasts comparing recognition of emotions and shapes were modelled at individual subject level. A group level analysis was performed using the contrasts generated at the first level to compare the effects of intranasal OXT and placebo. The results were thresholded at uncorrected p < 0.001 with a cluster size of 6 voxels. Neuropeptide oxytocin is known to modulate brain regions involved in facial emotion recognition, namely amygdala, in healthy volunteers. Results: Compared to placebo, intranasal OXT attenuated activity in inferior temporal, fusiform and parahippocampal gyri (BA 20), premotor cortex (BA 6), middle frontal gyrus (BA 10) and anterior cingulate gyrus (BA 24) and enhanced activity in the middle occipital gyrus (BA 18), inferior occipital gyrus (BA 19), and superior temporal gyrus (BA 22). There were no significant differences between the conditions on the accuracy scores of emotion recognition between baseline (77.3±18.38), oxytocin (82.63 ± 10.92) or Placebo (76.62 ± 22.67). Conclusion: Our results provide further evidence to the modulatory effect of oxytocin in patients with schizophrenia. Single dose oxytocin resulted in significant changes in activity of brain regions involved in emotion processing. Future studies need to examine the effectiveness of long-term treatment with OXT for emotion recognition deficits in patients with schizophrenia.

Keywords: recognition, functional connectivity, oxytocin, schizophrenia, social cognition

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Authors: Ansah Iris Baffour, Dong-Ho Kim, Sung-Gyu Park

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The ongoing COVID-19 pandemic, caused by the SARS-CoV-2 virus and is gradually shifting to an endemic phase which implies the outbreak is far from over and will be difficult to eradicate. Global cooperation has led to unified precautions that aim to suppress epidemiological spread (e.g., through travel restrictions) and reach herd immunity (through vaccinations); however, the primary strategy to restrain the spread of the virus in mass populations relies on screening protocols that enable rapid on-site diagnosis of infections. Herein, we employed surface enhanced Raman spectroscopy (SERS) for the rapid detection of SARS-CoV-2 lysate on an Au-modified Au nanodimple(AuND)electrode. Through in situone-pot Au electrodeposition on the AuND electrode, Au-lysate nanocomposites were synthesized, generating3D internal hotspots for large SERS signal enhancements within 30 s of the deposition. The capture of lysate into newly generated plasmonic nanogaps within the nanocomposite structures enhanced metal-spike protein contact in 3D spaces and served as hotspots for sensitive detection. The limit of detection of SARS-CoV-2 lysate was 5 x 10-2 PFU/mL. Interestingly, ultrasensitive detection of the lysates of influenza A/H1N1 and respiratory syncytial virus (RSV) was possible, but the method showed ultimate selectivity for SARS-CoV-2 in lysate solution mixtures. We investigated the practical application of the approach for rapid on-site diagnosis by detecting SARS-CoV-2 lysate spiked in normal human saliva at ultralow concentrations. The results presented demonstrate the reliability and sensitivity of the assay for rapid diagnosis of COVID-19.

Keywords: label-free detection, nanocomposites, SARS-CoV-2, surface-enhanced raman spectroscopy

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Authors: Ksenia Volkova, Artur Petrosyan, Ignatii Dubyshkin, Alexei Ossadtchi

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Brain-computer interfaces are a growing research field producing many implementations that find use in different fields and are used for research and practical purposes. Despite the popularity of the implementations using non-invasive neuroimaging methods, radical improvement of the state channel bandwidth and, thus, decoding accuracy is only possible by using invasive techniques. Electrocorticography (ECoG) is a minimally invasive neuroimaging method that provides highly informative brain activity signals, effective analysis of which requires the use of machine learning methods that are able to learn representations of complex patterns. Deep learning is a family of machine learning algorithms that allow learning representations of data with multiple levels of abstraction. This study explores the potential of deep learning approaches for ECoG processing, decoding movement intentions and the perception of proprioceptive information. To obtain synchronous recording of kinematic movement characteristics and corresponding electrical brain activity, a series of experiments were carried out, during which subjects performed finger movements at their own pace. Finger movements were recorded with a three-axis accelerometer, while ECoG was synchronously registered from the electrode strips that were implanted over the contralateral sensorimotor cortex. Then, multichannel ECoG signals were used to track finger movement trajectory characterized by accelerometer signal. This process was carried out both causally and non-causally, using different position of the ECoG data segment with respect to the accelerometer data stream. The recorded data was split into training and testing sets, containing continuous non-overlapping fragments of the multichannel ECoG. A deep convolutional neural network was implemented and trained, using 1-second segments of ECoG data from the training dataset as input. To assess the decoding accuracy, correlation coefficient r between the output of the model and the accelerometer readings was computed. After optimization of hyperparameters and training, the deep learning model allowed reasonably accurate causal decoding of finger movement with correlation coefficient r = 0.8. In contrast, the classical Wiener-filter like approach was able to achieve only 0.56 in the causal decoding mode. In the noncausal case, the traditional approach reached the accuracy of r = 0.69, which may be due to the presence of additional proprioceptive information. This result demonstrates that the deep neural network was able to effectively find a representation of the complex top-down information related to the actual movement rather than proprioception. The sensitivity analysis shows physiologically plausible pictures of the extent to which individual features (channel, wavelet subband) are utilized during the decoding procedure. In conclusion, the results of this study have demonstrated that a combination of a minimally invasive neuroimaging technique such as ECoG and advanced machine learning approaches allows decoding motion with high accuracy. Such setup provides means for control of devices with a large number of degrees of freedom as well as exploratory studies of the complex neural processes underlying movement execution.

Keywords: brain-computer interface, deep learning, ECoG, movement decoding, sensorimotor cortex

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Authors: Bassant M. M. Ibrahim, Doha H. Abou Baker, Ahmed Abd Elghafour

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Excessive exposure to heavy metals contributes to the occurrence of deleterious health problems that affect vital organs like the brain, liver, kidneys, and heart. The use of natural products that have antioxidant capabilities may contribute to the protection of these organs. In the present study, the essential oil of summer savory (Satureja hortensis) was used to evaluate its protective effects against lead acetate induced damaging effect on rats’ vital organs, due to its high contents of carvacrol, y-terpinene, and p-cymene. Forty female Wister Albino rats were classified into five equal groups, the 1st served as normal group, the 2nd served as positive control group was given lead acetate (60 mg/kg) intra-peritoneal (IP), the third to fifth groups were treated with calcium disodium (EDTA) as chelating agent and summer savory essential oil in doses of (50 and 100mg/kg) respectively. All treatments were given IP concomitant with lead acetate for ten successive days. At the end of the experiment duration electrocardiogram (ECG), an open field test for the evaluation of psychological state, rotarod test as for the evaluation of locomotor coordination ability as well as anti-inflammatory and oxidative stress biomarkers in serum and histopathology of vital organs were performed. The investigations in this study show that the protective effect of high dose of summer savory essential oil is more than the low dose and that the essential oil of summer savory is a promising agent that can contribute to the protection of vital organs against the hazardous damaging effects of lead acetate.

Keywords: brain, heart, kidneys, lead acetate, liver, protective, summer savory

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Authors: Liu Yi Hui

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The COVID-19 pandemic in 2020 has globally affected all aspects of life, with social distancing and quarantine orders causing turmoil and learning in community colleges being temporarily paused. In fact, this is the first time that adult education has faced such a severe challenge. It forces researchers to reflect on the impact of pandemics on adult education and ways to respond. Distance learning appears to be one of the pedagogical tools capable of dealing with interpersonal isolation and social distancing caused by the pandemic. This research aims to examine whether the impact of social distancing during COVID-19 will lead to increased acceptance of technology and, subsequently, an increase in adults ’ willingness to participate in distance learning. The hypothesis that social distancing and the desire to participate in distance learning affects learners’ tendency to accept technology is investigated. Teachers ’ participation in distance education and acceptance of technology are used as adjustment variables with the relationship to “social distancing,” “participation in distance learning,” and “acceptance of technology” of learners. A questionnaire survey was conducted over a period of twelve months for teachers and learners at all community colleges in Taiwan who enrolled in a basic unit course. Community colleges were separated using multi-stage cluster sampling, with their locations being metropolitan, non-urban, south, and east as criteria. Using the G*power software, 660 samples were selected and analyzed. The results show that through appropriate pedagogical strategies or teachers ’ own acceptance of technology, adult learners’ willingness to participate in distance learning could be influenced. A diverse model of participation can be developed, improving adult education institutions’ ability to plan curricula to be flexible to avoid the risk associated with epidemic diseases.

Keywords: social distancing, adult learning, community colleges, technology acceptance model

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Authors: Maria Del Carmen Millan-Linares, Ana Lemus Conejo, Rocio Toscano, Alvaro Villanueva, Francisco Millan, Justo Pedroche, Sergio Montserrat-De La Paz

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GPETAFLR (Glycine-Proline-Glutamine-Threonine-Alanine-Phenylalanine-Leucine-Arginine) is a peptide isolated from Lupinus angustifolius L. protein hydrolysate (LPH). Herein, the effect of this peptide was investigated in two different models of neuroinflammation: in the immortalized murine microglia cell line BV-2 and in a high-fat-diet-induced obesity mouse model. Methods and Results: Effects of GPETAFLR on neuroinflammation were evaluated by RT-qPCR, flow cytometry, and ELISA techniques. In BV-2 microglial cells, Lipopolysaccharides (LPS) enhanced the release of pro-inflammatory cytokines (TNF-α, IL-1β, and IL-6) whereas GPETAFLR decreased pro-inflammatory cytokine levels and increased the release of the anti-inflammatory cytokine IL-10 in BV2 microglial cells. M1 (CCR7 and iNOS) and M2 (Arg-1 and Ym-1) polarization markers results showed how the GPETAFLR octapeptide was able to decrease M1 polarization marker expression and increase the M2 polarization marker expression compared to LPS. Animal model results indicate that GPETAFLR has an immunomodulatory capacity, both decreasing pro-inflammatory cytokine IL-6 and increasing the anti-inflammatory cytokine IL-10 in brain tissue. Polarization markers in the brain tissue were also modulated by GPETAFLR that decreased the pro-inflammatory expression (M1) and increased the anti-inflammatory expression (M2). Conclusion: Our results suggest that GPETAFLR isolated from LPH has significant potential for management of neuroinflammatory conditions and offer benefits derived from the consumption of Lupinus angustifolius L. in the prevention of neuroinflammatory-related diseases.

Keywords: GPETAFLR peptide, BV-2 cell line, neuroinflammation, cytokines, high-fat-diet

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Authors: David Cobham

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In higher education, a great degree of importance is placed on the internationalization of the student experience. This is seen as a valuable contributor to elements such as building confidence, broadening knowledge, creating networks and connections, and enhancing employability for current students who will become the next generation of managers in technology and business. The COVID-19 pandemic has affected all areas of people’s lives. The limitations of travel coupled with the fears and concerns generated by the health risks have dramatically reduced the opportunity for students to engage with this agenda. Institutions of higher education have been required to rethink fundamental aspects of their business model from recruitment and enrolment through learning approaches, assessment methods, and the pathway to employment. This paper presents a case study which focuses on student mobility and how the physical experience of being in another country, either to study, to work, to volunteer or to gain cultural and social enhancement, has of necessity been replaced by alternative approaches. It considers trans-national education as an alternative to physical study overseas, virtual mobility and internships as an alternative to international work experience, and adopting collaborative online projects as an alternative to in-person encounters. The paper concludes that although these elements have been adopted to address the current situation, the lessons learned and the feedback gained suggests that they have contributed successfully in new and sometimes unexpected ways and that they will persist beyond the present to become part of the 'new normal' for the future. That being the case, senior leaders of institutions of higher education will be required to revisit their international plans and to rewrite their international strategies to take account of and build upon these changes.

Keywords: higher education management, internationalization, transnational education, virtual mobility

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Authors: K. S. Suganya, R. Nedunchezhian

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In recent years, blockchain technology has been found to be the most significant discovery in this digital era, after the discovery of the Internet and Cloud Computing. Blockchain is a simple, distributed public ledger that contains all the user’s transaction details in a block. The global copy of the block is then shared among all its peer-peer network users after validation by the Blockchain miners. Once a block is validated and accepted, it cannot be altered by any users making it a trust-free transaction. It also resolves the problem of double-spending by using traditional cryptographic methods. Since the advent of bitcoin, blockchain has been the backbone for all its transactions. But in recent years, it has found its roots and uses in many fields like Smart Contracts, Smart City management, healthcare, etc. Identity management against digital identity theft has become a major concern among financial and other organizations. To solve this digital identity theft, blockchain technology can be employed with existing identity management systems, which maintain a distributed public ledger containing details of an individual’s identity containing information such as Digital birth certificates, Citizenship number, Bank details, voter details, driving license in the form of blocks verified on the blockchain becomes time-stamped, unforgeable and publicly visible for any legitimate users. The main challenge in using blockchain technology to prevent digital identity theft is ensuring the pseudo-anonymity and privacy of the users. This survey paper will exert to study the blockchain concepts, consensus protocols, and various blockchain-based Digital Identity Management systems with their research scope. This paper also discusses the role of Blockchain in COVID-19 pandemic management by self-sovereign identity and supply chain management.

Keywords: blockchain, consensus protocols, bitcoin, identity theft, digital identity management, pandemic, COVID-19, self-sovereign identity

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Authors: Awan A. Zaima, Tanvieer Ayesha, Mirshahi Shahsoltan, Pocard Marc, Mirshahi Massoud

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Brain-derived neurotrophic factor (BDNF) is described as a factor helping to support the survival of existing neurons by involving the growth and differentiation of new neurons and synapses. Cancer diagnosis impacts the mental health, and in consequences, depression arise eventually hinders recovery and disrupts the quality of life and surviving chances of patients. The focus of this study is to hint upon a prospective biomarker as a promising diagnostic tool for an early indicator/predictor of depression prevalence in cancer patients for better care and treatment options. The study aims to analyze peripheral biomarkers from neuro immune axis (BDNF, IL21 as a NK cell activator) using co-relation approach. Samples were obtained from random non cancer candidates and advanced peritoneum carcinomatosis patients with 25% pseudomyxoma, 21% Colon cancer,19% stomach cancer, 10% ovarian cancer, 8% appendices cancer, and 10% other area of peritoneum cancer patients. Both groups of the study were categorized by gender and age, with a range of 18 to 86 years old. Biomarkers were analyzed in collected plasma by performing multiplex sandwich ELISA system. Data were subjected to statistical analysis for the assessment of the correlation. Our results demonstrate that BNDF and IL 21 down regulated significantly in patient groupas compared to non-cancer candidates (ratio of patients/normalis 2.57 for BNDF and 1.32 for IL21). This preliminary investigation suggested that the neuro immune biomarkers are down regulated in carcinomatosis patients and can be associated with cancer expansion and cancer genesis. Further studies on larger cohort are necessary to validate this hypothesis.

Keywords: biomarkers, depression, peritoneum carcinoma, BNDF, IL21

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Authors: John E. Muñoz, Jose F. Lopez, David S. Lopez

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Attention Deficit Hyperactivity Disorder (ADHD) is a disorder that affects 1 out of 5 Colombian children, converting into a real public health problem in the country. Conventional treatments such as medication and neuropsychological therapy have been proved to be insufficient in order to decrease high incidence levels of ADHD in the principal Colombian cities. This work demonstrates a design and development of a videogame that uses a brain computer interface not only to serve as an input device but also as a tool to monitor neurophysiologic signal. The video game named “The Harvest Challenge” puts a cultural scene of a Colombian coffee grower in its context, where a player can use his/her avatar in three mini games created in order to reinforce four fundamental aspects: i) waiting ability, ii) planning ability, iii) ability to follow instructions and iv) ability to achieve objectives. The details of this collaborative designing process of the multimedia tool according to the exact clinic necessities and the description of interaction proposals are presented through the mental stages of attention and relaxation. The final videogame is presented as a tool for sustained attention training in children with ADHD using as an action mechanism the neuromodulation of Beta and Theta waves through an electrode located in the central part of the front lobe of the brain. The processing of an electroencephalographic signal is produced automatically inside the videogame allowing to generate a report of the theta/beta ratio evolution - a biological marker, which has been demonstrated to be a sufficient measure to discriminate of children with deficit and without.

Keywords: BCI, neuromodulation, ADHD, videogame, neurofeedback, theta/beta ratio

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Authors: Anup Anand Deshmukh, Catherine Soladie, Renaud Seguier

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Emotion plays a key role in many applications like healthcare, to gather patients’ emotional behavior. Unlike typical ASR (Automated Speech Recognition) problems which focus on 'what was said', it is equally important to understand 'how it was said.' There are certain emotions which are given more importance due to their effectiveness in understanding human feelings. In this paper, we propose an approach that models human stress from audio signals. The research challenge in speech emotion detection is finding the appropriate set of acoustic features corresponding to an emotion. Another difficulty lies in defining the very meaning of emotion and being able to categorize it in a precise manner. Supervised Machine Learning models, including state of the art Deep Learning classification methods, rely on the availability of clean and labelled data. One of the problems in affective computation is the limited amount of annotated data. The existing labelled emotions datasets are highly subjective to the perception of the annotator. We address the first issue of feature selection by exploiting the use of traditional MFCC (Mel-Frequency Cepstral Coefficients) features in Convolutional Neural Network. Our proposed Emo-CNN (Emotion-CNN) architecture treats speech representations in a manner similar to how CNN’s treat images in a vision problem. Our experiments show that Emo-CNN consistently and significantly outperforms the popular existing methods over multiple datasets. It achieves 90.2% categorical accuracy on the Emo-DB dataset. We claim that Emo-CNN is robust to speaker variations and environmental distortions. The proposed approach achieves 85.5% speaker-dependant categorical accuracy for SAVEE (Surrey Audio-Visual Expressed Emotion) dataset, beating the existing CNN based approach by 10.2%. To tackle the second problem of subjectivity in stress labels, we use Lovheim’s cube, which is a 3-dimensional projection of emotions. Monoamine neurotransmitters are a type of chemical messengers in the brain that transmits signals on perceiving emotions. The cube aims at explaining the relationship between these neurotransmitters and the positions of emotions in 3D space. The learnt emotion representations from the Emo-CNN are mapped to the cube using three component PCA (Principal Component Analysis) which is then used to model human stress. This proposed approach not only circumvents the need for labelled stress data but also complies with the psychological theory of emotions given by Lovheim’s cube. We believe that this work is the first step towards creating a connection between Artificial Intelligence and the chemistry of human emotions.

Keywords: deep learning, brain chemistry, emotion perception, Lovheim's cube

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Authors: Mitchell Stanton

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Background: Endovascular management is well established as a mainstay treatment option for cerebral aneurysms. It is also well established that immediate post procedural imaging can be difficult to interpret due to the presence of contrast material. However, through the use of Dual-Energy computed tomography, it has become possible to differentiate contrast extravasation and intracranial haemorrhage. This case illustrates the importance of this technology following endovascular treatment of an unruptured cerebral aneurysm. Case Presentation: A 79-year-old female was found to have an unruptured large intracavernous ICA fusiform aneurysm on CT Brain Angiogram after presenting with acute ophthalmoplegia. This ophthalmoplegia was caused by mass effect from the aneurysm and subsequently the aneurysm was treated with an endovascular flow diverting stent. CT brain was performed post operatively due to a reduced level of consciousness and this showed diffuse subarachnoid hyperdensity of the left hemisphere. The use of Dual-Energy CT allowed accurate differentiation and illustrated diffuse contrast material extravasation, allowing patient to continue on dual-antiplatelets and therapeutic anticoagulation to reduce the risk of ischaemic injury post endovascular stent. Conclusion: Endovascular treatment options for management of intracranial aneurysms are constantly evolving. The use of Dual-Energy CT therefore has an integral role in accurately diagnosing any post-operative complications. Specifically, differentiating between subarachnoid haemorrhage and contrast extravasation is vital in these patients due to the significant consequences to their ongoing management in regards to continuation or cessation of antiplatelets or anticoagulation. With increasing access to this technology, its use should become standard practice in the post-operative investigation of these patients undergoing endovascular treatment.

Keywords: aneurysm, computed tomography, contrast extravasation, dual-energy CT, endovascular, subarachnoid haemorrhage

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Authors: Ahmed Gaber Abdel Raheem, Nashwa Ahmed Mohamed

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Introduction: Sensorineural hearing loss (SNHL) is largely caused by the degeneration of the cochlea. Therapeutic options for SNHL are limited to hearing aids and cochlear implants. The cell transplantation approach to the regeneration of hair cells has gained considerable attention because stem cells are believed to accumulate in the damaged sites and have the potential for the repair of damaged tissues. The aim of the work: was to assess the use of bone marrow transplantation in repair of damaged inner ear hair cells in rats after the damage had been inflicted by Amikacin injection. Material and Methods: Thirty albino rats were used in this study. They were divided into three groups. Each group ten rats. Group I: used as control. Group II: Were given Amikacin- intratympanic injection till complete loss of hearing function. This could be assessed by Distortion product Otoacoustic Emission (DPOAEs) and / or auditory brain stem evoked potential (ABR). GroupIII: were given intra-peritoneal injection of bone marrow stem cell after complete loss of hearing caused by Amikacin. Clinical assessment was done using DPOAEs and / or auditory brain stem evoked potential (ABR), before and after bone marrow injection. Histological assessment of the inner ear was done by light and electron microscope. Also, Detection of stem cells in the inner ear by immunohistochemistry. Results: Histological examination of the specimens showed promising improvement in the structure of cochlea that may be responsible for the improvement of hearing function in rats detected by DPOAEs and / or ABR. Conclusion: Bone marrow stem cells transplantation might be useful for the treatment of SNHL.

Keywords: amikacin, hair cells, sensorineural hearing loss, stem cells

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Authors: Angelis P. Barlampas

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An 89 years old woman came to the emergency department complaining of long-lasting headaches and nausea. A CT examination was performed, and a homogeneous midline anterior cranial fossa lesion was revealed, which was situated near the base and measured 2,4 cm in diameter. The patient was allergic, and an i.v.c injection could not be done on the spot, and neither could an MRI exam because of metallic implants. How could someone narrow down the differential diagnosis? The interhemispheric meningioma is usually a silent midline lesion with no edema, and most often presents as a homogeneous, solid type, isodense, or slightly hyperdense mass ( usually the smallest lesions as this one ). Of them, 20-30% have some calcifications. Hyperostosis is typical for meningiomas that abut the base of the skull but is absent in the current case, presumably of a more cephalad location that is borderline away from the bone. Because further investigation could not be done, as the patient was allergic to the contrast media, some other differential options should be considered. Regarding the site of the lesion, the most common other entities to keep in mind are the following: Metastasis, tumor of skull base, abscess, primary brain tumors, meningioma, giant aneurysm of the anterior cerebral artery, olfactory neuroblastoma, interhemispheric meningioma, giant aneurysm of the anterior cerebral artery, midline lesion. Appearance will depend on whether the aneurysm is non-thrombosed, or partially, or completely thrombosed. Non-contrast: slightly hyperdense, well-defined round extra-axial mass, may demonstrate a peripheral calcified rim, olfactory neuroblastoma, midline lesion. The mass is of soft tissue attenuation and is relatively homogeneous. Focal calcifications are occasionally present. When an intracranial extension is present, peritumoral cysts between it and the overlying brain are often present. Final diagnosis interhemispheric meningioma (Known from the previous patient’s history). Meningiomas come from the meningocytes or the arachnoid cells of the meninges. They are usually found incidentally, have an indolent course, and their most common location is extra-axial, parasagittal, and supratentorial. Other locations include the sphenoid ridge, olfactory groove, juxtasellar, infratentorial, intraventricular, pineal gland area, and optic nerve meningioma. They are clinically silent entities, except for large ones, which can present with headaches, changes in personality status, paresis, or symptomatology according to their specific site and may cause edema of the surrounding brain tissue. Imaging findings include the presence of calcifications, the CSF cleft sign, hyperostosis of adjacent bone, dural tail, and white matter buckling sign. After i.v.c. injection, they enhance brightly and homogenously, except for large ones, which may exhibit necrotic areas or may be heavily calcified. Malignant or cystic variants demonstrate more heterogeneity and less intense enhancement. Sometimes, it is inevitable that the needed CT protocol cannot be performed, especially in the emergency department. In these cases, the radiologist must focus on the characteristic imaging features of the unenhanced lesion, as well as in previous examinations or a known lesion history, in order to come to the right report conclusion.

Keywords: computed tomography, emergency radiology, metastasis, tumor of skull base, abscess, primary brain tumors, meningioma, giant aneurysm of the anterior cerebral artery, olfactory neuroblastoma, interhemispheric meningioma

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Authors: Matthew John F. Sino Cruz, Sarah Jane M. Ferrer, Janice C. Francisco

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COVID-19 pandemic has affected more than 114 countries all over the world since it was considered a global health concern in 2020. Different sectors, including education, have shifted to remote/distant setups to follow the guidelines set to prevent the spread of the disease. One of the higher education institutes which shifted to remote setup is the Pangasinan State University (PSU). In order to continue providing quality instructions to the students, PSU designed Flexible Learning Model to still provide services to its stakeholders amidst the pandemic. The model covers the redesigning of delivering instructions in remote setup and the technology needed to support these adjustments. The primary goal of this study is to determine the insights of the PSU – Bayambang students towards the remote setup implemented during the pandemic and how they perceived the initiatives employed in relation to their experiences in flexible learning. In this study, the topic modelling approach was implemented using Latent Dirichlet Allocation. The dataset used in the study. The results show that the most common concern of the students includes time and resource management, poor internet connection issues, and difficulty coping with the flexible learning modality. Furthermore, the findings of the study can be used as one of the bases for the administration to review and improve the policies and initiatives implemented during the pandemic in relation to remote service delivery. In addition, further studies can be conducted to determine the overall sentiment of the other stakeholders in the policies implemented at the University.

Keywords: COVID-19, topic modelling, students’ sentiment, flexible learning, Latent Dirichlet allocation

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Authors: N. D. Iswarya, M. A. Maluk Mohamed, N. Vijaya

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Grid is infrastructure that allows the deployment of distributed data in large size from multiple locations to reach a common goal. Scheduling data intensive applications becomes challenging as the size of data sets are very huge in size. Only two solutions exist in order to tackle this challenging issue. First, computation which requires huge data sets to be processed can be transferred to the data site. Second, the required data sets can be transferred to the computation site. In the former scenario, the computation cannot be transferred since the servers are storage/data servers with little or no computational capability. Hence, the second scenario can be considered for further exploration. During scheduling, transferring huge data sets from one site to another site requires more network bandwidth. In order to mitigate this issue, this work focuses on incorporating cognitive science in scheduling. Cognitive Science is the study of human brain and its related activities. Current researches are mainly focused on to incorporate cognitive science in various computational modeling techniques. In this work, the problem solving approach of human brain is studied and incorporated during the data intensive scheduling in grid environments. Here, a cognitive engine is designed and deployed in various grid sites. The intelligent agents present in CE will help in analyzing the request and creating the knowledge base. Depending upon the link capacity, decision will be taken whether to transfer data sets or to partition the data sets. Prediction of next request is made by the agents to serve the requesting site with data sets in advance. This will reduce the data availability time and data transfer time. Replica catalog and Meta data catalog created by the agents assist in decision making process.

Keywords: data grid, grid workflow scheduling, cognitive artificial intelligence

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Authors: Claire Norman-Maillet

Abstract:

Insider fraud is a major financial crime threat whereby an employee defrauds (or attempts to defraud) their current, prospective, or past employer. ‘Employee’ covers anyone employed by the company, including Board members and part-time staff. Insider fraud can take many forms, including an employee working alone or in collusion with others. Insider fraud has been on the rise since the Coronavirus pandemic and shows no signs of slowing. The objective of the research is to better understand how FinTechs are impacted by insider fraud and, therefore, how to stop it. This research will make an original contribution to the financial crime field, given the timing of this research being intertwined with the cost-of-living crisis in the UK and the global Coronavirus pandemic. This research focuses on insider fraud within FinTechs specifically, as they are arguably a modern phenomenon in the financial institutions space and have cutting-edge technology at their disposal. To achieve the research objective, the researcher held semi-structured interviews with over 20 individuals who deal with insider fraud perpetration in a practitioner, recruitment, or advisory capacity. The interviews were subsequently transcribed and analysed thematically. Main findings in the research suggest that FinTechs are arguably in the best position to combat insider fraud, given their focus on using recent technologies, as this can be used to combat the threat. However, insider fraud has been ignored owing to the denial of accepting the possibility that colleagues would defraud their employer, as well as the idea that external fraud is the most important threat. The research concludes that, whilst the technology is understandably prioritised by FinTechs for providing an agreeable customer experience, insider fraud needs to be given a platform upon which to be recognised as a significant threat to any company. Moreover, insider fraud needs to be given the same level of weighting and attention by Executive Committees and Boards as the customer experience.

Keywords: insider fraud, occupational fraud, COVID-19, COVID, Coronavirus, pandemic, internal fraud, financial crime, economic crime

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Authors: Rachana Tank, Donald. M. Lyall, Kristin Flegal, Joey Ward, Jonathan Cavanagh

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Alzheimer’s research UK estimates by 2050, 2 million individuals will be living with Late Onset Alzheimer’s disease (LOAD). However, individuals experience considerable cognitive deficits and brain pathology over decades before reaching clinically diagnosable LOAD and studies have utilised gene candidate studies such as genome wide association studies (GWAS) and polygenic risk (PGR) scores to identify high risk individuals and potential pathways. This investigation aims to determine whether high genetic risk of LOAD is associated with worse brain MRI and cognitive performance in healthy older adults within the UK Biobank cohort. Previous studies investigating associations of PGR for LOAD and measures of MRI or cognitive functioning have focused on specific aspects of hippocampal structure, in relatively small sample sizes and with poor ‘controlling’ for confounders such as smoking. Both the sample size of this study and the discovery GWAS sample are bigger than previous studies to our knowledge. Genetic interaction between loci showing largest effects in GWAS have not been extensively studied and it is known that APOE e4 poses the largest genetic risk of LOAD with potential gene-gene and gene-environment interactions of e4, for this reason we  also analyse genetic interactions of PGR with the APOE e4 genotype. High genetic loading based on a polygenic risk score of 21 SNPs for LOAD is associated with worse brain MRI and cognitive outcomes in healthy individuals within the UK Biobank cohort. Summary statistics from Kunkle et al., GWAS meta-analyses (case: n=30,344, control: n=52,427) will be used to create polygenic risk scores based on 21 SNPs and analyses will be carried out in N=37,000 participants in the UK Biobank. This will be the largest study to date investigating PGR of LOAD in relation to MRI. MRI outcome measures include WM tracts, structural volumes. Cognitive function measures include reaction time, pairs matching, trail making, digit symbol substitution and prospective memory. Interaction of the APOE e4 alleles and PGR will be analysed by including APOE status as an interaction term coded as either 0, 1 or 2 e4 alleles. Models will be adjusted partially for adjusted for age, BMI, sex, genotyping chip, smoking, depression and social deprivation. Preliminary results suggest PGR score for LOAD is associated with decreased hippocampal volumes including hippocampal body (standardised beta = -0.04, P = 0.022) and tail (standardised beta = -0.037, P = 0.030), but not with hippocampal head. There were also associations of genetic risk with decreased cognitive performance including fluid intelligence (standardised beta = -0.08, P<0.01) and reaction time (standardised beta = 2.04, P<0.01). No genetic interactions were found between APOE e4 dose and PGR score for MRI or cognitive measures. The generalisability of these results is limited by selection bias within the UK Biobank as participants are less likely to be obese, smoke, be socioeconomically deprived and have fewer self-reported health conditions when compared to the general population. Lack of a unified approach or standardised method for calculating genetic risk scores may also be a limitation of these analyses. Further discussion and results are pending.

Keywords: Alzheimer's dementia, cognition, polygenic risk, MRI

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Authors: Guoqiang Yu, Mehrana Mohtasebi, Jinghong Sun, Thomas Pittman

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Malignant glioma (MG) is the most common type of primary malignant brain tumor. Surgical resection of MG remains the cornerstone of therapy, and the extent of resection correlates with patient survival. A limiting factor for resection, however, is the difficulty in differentiating the tumor from normal tissue during surgery. Fluorescence imaging is an emerging technique for real-time intraoperative visualization of MGs and their boundaries. However, most clinical-grade neurosurgical operative microscopes with fluorescence imaging ability are hampered by low adoption rates due to high cost, limited portability, limited operation flexibility, and lack of skilled professionals with technical knowledge. To overcome the limitations, we innovatively integrated miniaturized light sources, flippable filters, and a recording camera to the surgical eye loupes to generate a wearable fluorescence eye loupe (FLoupe) device for intraoperative imaging of fluorescent MGs. Two FLoupe prototypes were constructed for imaging of Fluorescein and 5-aminolevulinic acid (5-ALA), respectively. The wearable FLoupe devices were tested on tumor-simulating phantoms and patients with MGs. Comparable results were observed against the standard neurosurgical operative microscope (PENTERO® 900) with fluorescence kits. The affordable and wearable FLoupe devices enable visualization of both color and fluorescence images with the same quality as the large and expensive stationary operative microscopes. The wearable FLoupe device allows for a greater range of movement, less obstruction, and faster/easier operation. Thus, it reduces surgery time and is more easily adapted to the surgical environment than unwieldy neurosurgical operative microscopes.

Keywords: fluorescence guided surgery, malignant glioma, neurosurgical operative microscope, wearable fluorescence imaging device

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Authors: Hongyun Li, Zhibin Jiang

Abstract:

The travel of passengers in the urban rail transit network is influenced by changes in network structure and operational status, and the response of individual travel preferences to these changes also varies. Firstly, the influence of the suspension of urban rail transit line sections on passenger travel along the line is analyzed. Secondly, passenger travel trajectories containing multi-dimensional semantics are described based on network UD data. Next, passenger panel data based on spatio-temporal sequences is constructed to achieve frequent passenger clustering. Then, the Graph Convolutional Network (GCN) is used to model and identify the changes in travel modes of different types of frequent passengers. Finally, taking Shanghai Metro Line 11 as an example, the travel behavior patterns of frequent passengers after the Huaqiao section shutdown during the COVID-19 epidemic are analyzed. The results showed that after the section shutdown, most passengers would transfer to the nearest Anting station for boarding, while some passengers would transfer to other stations for boarding or cancel their travels directly. Among the passengers who transferred to Anting station for boarding, most of passengers maintained the original normalized travel mode, a small number of passengers waited for a few days before transferring to Anting station for boarding, and only a few number of passengers stopped traveling at Anting station or transferred to other stations after a few days of boarding on Anting station. The results can provide a basis for understanding urban rail transit passenger travel patterns and improving the accuracy of passenger flow prediction in abnormal operation scenarios.

Keywords: urban rail transit, section shutdown, frequent passenger, travel behavior pattern

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Authors: Amber Shahi, Ayesha Tazeen, Abdus Samad, Shama Parveen

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Nanoparticles (NPs) are tiny particles. According to the International Organization for Standardization, the size range of NPs is in the nanometer range (1-100 nm). They show distinct properties that are not shown by larger particles of the same material. NPs are currently being used in different fields due to their unique physicochemical nature. NPs are a boon for medical sciences, environmental sciences, electronics, and textile industries. However, there is growing concern about their potential adverse effects on human health. This poster presents a comprehensive review of the current literature on the pros and cons of NPs on human health. The poster will discuss the various types of interactions of NPs with biological systems. There are a number of beneficial uses of NPs in the field of health and environmental welfare. NPs are very useful in disease diagnosis, antimicrobial action, and the treatment of diseases like Alzheimer’s. They can also cross the blood-brain barrier, making them capable of treating brain diseases. Additionally, NPs can target specific tumors and be used for cancer treatment. To treat environmental health, NPs also act as catalytic converters to reduce pollution from the environment. On the other hand, NPs also have some negative impacts on the human body, such as being cytotoxic and genotoxic. They can also affect the reproductive system, such as the testis and ovary, and sexual behavior. The poster will further discuss the routes of exposure of NPs. The poster will conclude with a discussion of the current regulations and guidelines on the use of NPs in various applications. It will highlight the need for further research and the development of standardized toxicity testing methods to ensure the safe use of NPs in various applications. When using NPs in diagnosis and treatment, we should also take into consideration their safe concentration in the body. Overall, this poster aims to provide a comprehensive overview of the pros and cons of NPs on human health and to promote awareness and understanding of the potential risks and benefits associated with their use.

Keywords: disease diagnosis, human health, nanoparticles, toxicity testing

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Authors: Yamunah Devi Apalasamy, Sanjay Rampal, Tin Tin Su, Foong Ming Moy, Hazreen Abdul Majid, Awang Bulgiba, Zahurin Mohamed

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Obesity is a growing global health issue. Obesity results from a combination of environmental and genetics factors. Brain-derived neurotrophic factor (BDNF), a gene encodes the BDNF protein and the BDNF gene have been linked to regulation of body weight and appetite. Genome-wide association studies have identified the BDNF variants to be related to obesity among Caucasians, East Asians, and Filipinos. However, the role of BDNF in other ethnic groups remains inconclusive. This case control study aims to investigate the associations of BDNF gene polymorphisms with obesity and metabolic parameters in Malaysian Malays. BDNF rs4074134, BDNF rs10501087 and BDNF rs6265 were genotyped using Sequenom MassARRAY. Anthropometric, body fat, fasting lipids and glucose levels were measured. A total of 663 subjects (194 obese and 469 non-obese) were included in this study. There were no significant associations association between BDNF SNPs and obesity. The allelic and genotype frequencies of the BDNF SNPs were similar in the obese and non-obese groups. After adjustment for age and sex, the BDNF variants were not associated with obesity, body fat, fasting lipids and glucose levels. Haplotypes at the BDNF gene region, were not significantly associated with obesity. The BDNF rs4074134 was in strong LD with BDNF rs10501087 (D'=0.98) and BDNF rs6265 (D'=0.87). The BDNF rs10501087 was also in strong LD with BDNF rs6265 (D'=0.91). Our findings suggest that the BDNF variants and the haplotypes of BDNF gene were not associated with obesity and metabolic traits in this study population. Further research is needed to explore other BDNF variants with a larger sample size with gene-environment interactions in multi ethnic Malaysian population.

Keywords: genomics of obesity, SNP, BMI, haplotypes

Procedia PDF Downloads 427

Authors: Farshad Ghodoosi

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This article analyzes the effect of supervening events in contracts. Contracts serve an important function: allocation of risks. In spite of its importance, the case law and the doctrine are messy and inconsistent. This article provides a fresh look at excuse doctrines (i.e., force majeure, impracticability, impossibility, and frustration) with a focus on force majeure clauses. The article makes the following contributions: First, it furnishes a new conceptual and theoretical framework of excuse doctrines. By distilling the decisions, it shows that excuse doctrines rests on the triangle of control, foreseeability, and contract language. Second, it analyzes force majeure clauses used by S&P 500 companies to understand the stickiness and similarity of such clauses and the events they cover. Third, using computational and statistical tools, it analyzes US cases since 1810 in order to assess the weight given to the triangle of control, foreseeability, and contract language. It shows that the control factor plays an important role in force majeure analysis, while the contractual interpretation is the least important factor. The Article concludes that it is the standard for control -whether the supervening event is beyond the control of the party- that determines the outcome of cases in the force majeure context and not necessarily the contractual language. This article has important implications on COVID-19-related contractual cases. Unlike the prevailing narrative that it is the language of the force majeure clause that’s determinative, this article shows that the primarily focus of the inquiry will be on whether the effects of COVID-19 have been beyond the control of the promisee. Normatively, the Article suggests that the trifactor of control, foreseeability, and contractual language are not effective for allocation of legal risks in times of crises. It puts forward a novel approach to force majeure clauses whereby that the courts should instead focus on the degree to which parties have relied on (expected) performance, in particular during the time of crisis.

Keywords: contractual risks, force majeure clauses, foreseeability, control, contractual language, computational analysis

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Authors: Kyosuke Kamada, Christoph Kapeller, Michael Jordan, Mostafa Mohammadpour, Christy Li, Christoph Guger

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Cortico-cortical evoked potentials (CCEP) refer to responses generated by cortical electrical stimulation at distant brain sites. These responses provide insights into the functional networks associated with language or motor functions, and in the context of epilepsy, they can reveal pathological networks. Locating the origin and spread of seizures within the cortex is crucial for pre-surgical planning. This process can be enhanced by employing cortical stimulation at the seizure onset zone (SOZ), leading to the generation of CCEPs in remote brain regions that may be targeted for disconnection. In the case of a 24-year-old male patient suffering from intractable epilepsy, corpus callosotomy was performed as part of the treatment. DTI-MRI imaging, conducted using a 3T MRI scanner for fiber tracking, along with CCEP, is used as part of an assessment for surgical planning. Stimulation of the SOZ, with alternating monophasic pulses of 300µs duration and 15mA current intensity, resulted in CCEPs on the contralateral frontal cortex, reaching a peak amplitude of 206µV with a latency of 31ms, specifically in the left pars triangularis. The related fiber tracts were identified with a two-tensor unscented Kalman filter (UKF) technique, showing transversal fibers through the corpus callosum. The CCEPs were monitored through the progress of the surgery. Notably, the SOZ-associated CCEPs exhibited a reduction following the resection of the anterior portion of the corpus callosum, reaching the identified connecting fibers. This intervention demonstrated a potential strategy for mitigating the impact of intractable epilepsy through targeted disconnection of identified cortical regions.

Keywords: CCEP, SOZ, Corpus callosotomy, DTI

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Authors: Edward Poluyi, Eghosa Morgan, Charles Poluyi, Chibuikem Ikwuegbuenyi, Grace Imaguezegie

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Background: Current epidemiological studies have examined the associations between moderate and severe traumatic brain injury (TBI) and their risks of developing neurodegenerative diseases. Concussion, also known as mild TBI (mTBI), is however quite distinct from moderate or severe TBIs. Only few studies in this burgeoning area have examined concussion—especially repetitive episodes—and neurodegenerative diseases. Thus, no definite relationship has been established between them. Objectives : This review will discuss the available literature linking concussion and amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD). Materials and Methods: Given the complexity of this subject, a realistic review methodology was selected which includes clarifying the scope and developing a theoretical framework, developing a search strategy, selection and appraisal, data extraction, and synthesis. A detailed literature matrix was set out in order to get relevant and recent findings on this topic. Results: Presently, there is no objective clinical test for the diagnosis of concussion because the features are less obvious on physical examination. Absence of an objective test in diagnosing concussion sometimes leads to skepticism when confirming the presence or absence of concussion. Intriguingly, several possible explanations have been proposed in the pathological mechanisms that lead to the development of some neurodegenerative disorders (such as ALS and AD) and concussion but the two major events are deposition of tau proteins (abnormal microtubule proteins) and neuroinflammation, which ranges from glutamate excitotoxicity pathways and inflammatory pathways (which leads to a rise in the metabolic demands of microglia cells and neurons), to mitochondrial function via the oxidative pathways.

Keywords: amyotrophic lateral sclerosis, Alzheimer's disease, mild traumatic brain injury, neurodegeneration

Procedia PDF Downloads 79

Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

Procedia PDF Downloads 144