Search results for: mismatch disorder
110 The Use of Rotigotine to Improve Hemispatial Neglect in Stroke Patients at the Charing Cross Neurorehabilitation Unit
Authors: Malab Sana Balouch, Meenakshi Nayar
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Hemispatial Neglect is a common disorder primarily associated with right hemispheric stroke, in the acute phase of which it can occur up to 82% of the time. Such individuals fail to acknowledge or respond to people and objects in their left field of vision due to deficits in attention and awareness. Persistent hemispatial neglect significantly impedes post-stroke recovery, leading to longer hospital stays post-stroke, increased functional dependency, longer-term disability in ADLs and increased risk of falls. Recently, evidence has emerged for the use of dopamine agonist Rotigotine in neglect. The aim of our Quality Improvement Project (QIP) is to evaluate and better the current protocols and practice in assessment, documentation and management of neglect and rotigotine use at the Neurorehabilitation unit at Charing Cross Hospital (CNRU). In addition, it brings light to rotigotine use in the management of hemispatial neglect and paves the way for future research in the field. Our QIP was based in the CNRU. All patients admitted to the CNRU suffering from a right-sided stroke from 2nd of February 2018 to the 2nd of February 2021 were included in the project. Each patient’s multidisciplinary team report and hospital notes were searched for information, including bio-data, fulfilment of the inclusion criteria (having hemispatial neglect) and data related to rotigotine use. This includes whether or not the drug was administered, any contraindications to drug in patients that did not receive it, and any therapeutic benefits(subjective or objective improvement in neglect) in those that did receive the rotigotine. Data was simultaneously entered into excel sheet and further statistical analysis was done on SPSS 20.0. Out of 80 patients suffering from right sided strokes, 72.5% were infarcts and 27.5% were hemorrhagic strokes, with vast majority of both types of strokes were in the middle cerebral artery territory (MCA). A total of 31 (38.8%) of our patients were noted to have hemispatial neglect, with the highest number of cases being associated with MCA strokes. Almost half of our patients with MCA strokes suffered from neglect. Neglect was more common in male patients. Out of the 31 patients suffering from visuospatial neglect, only 16% actually received rotigotine and 80% of them were noted to have an objective improvement in their neglect tests and 20% revealed subjective improvement. After thoroughly going through neglect-associated documentation, the following recommendations/plans were put in place for the future. We plan to liaise with the occupational therapy team at our rehab unit to set a battery of tests that would be done on all patients presenting with neglect and recommend clear documentation of outcomes of each neglect screen under it. Also to create two proformas; one for the therapy team to aid in systematic documentation of neglect screens done prior to and after rotigotine administration and a second proforma for the medical team with clear documentation of rotigotine use, its benefits and any contraindications if not administered.Keywords: hemispatial Neglect, right hemispheric stroke, rotigotine, neglect, dopamine agonist
Procedia PDF Downloads 70109 In Vitro Fermentation Of Rich In B-glucan Pleurotus Eryngii Mushroom: Impact On Faecal Bacterial Populations And Intestinal Barrier In Autistic Children
Authors: Georgia Saxami, Evangelia N. Kerezoudi, Evdokia K. Mitsou, Marigoula Vlassopoulou, Georgios Zervakis, Adamantini Kyriacou
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Autism Spectrum Disorder (ASD) is a complex group of developmental disorders of the brain, characterized by social and communication dysfunctions, stereotypes and repetitive behaviors. The potential interaction between gut microbiota (GM) and autism has not been fully elucidated. Children with autism often suffer gastrointestinal dysfunctions, while alterations or dysbiosis of GM have also been observed. Treatment with dietary components has been postulated to regulate GM and improve gastrointestinal symptoms, but there is a lack of evidence for such approaches in autism, especially for prebiotics. This study assessed the effects of Pleurotus eryngii mushroom (candidate prebiotic) and inulin (known prebiotic compound) on gut microbial composition, using faecal samples from autistic children in an in vitro batch culture fermentation system. Selected members of GM were enumerated at baseline (0 h) and after 24 h fermentation by quantitative PCR. After 24 h fermentation, inulin and P. eryngii mushroom induced a significant increase in total bacteria and Faecalibacterium prausnitzii compared to the negative control (gut microbiota of each autistic donor with no carbohydrate source), whereas both treatments induced a significant increase in levels of total bacteria, Bifidobacterium spp. and Prevotella spp. compared to baseline (t=0h) (p for all <0.05). Furthermore, this study evaluated the impact of fermentation supernatants (FSs), derived from P. eryngii mushroom or inulin, on the expression levels of tight junctions’ genes (zonulin-1, occludin and claudin-1) in Caco-2 cells stimulated by bacterial lipopolysaccharides (LPS). Pre-incubation of Caco-2 cells with FS from P. eryngii mushroom led to a significant increase in the expression levels of zonulin-1, occludin and claudin-1 genes compared to the untreated cells, the cells that were subjected to LPS and the cells that were challenged with FS from negative control (p for all <0.05). In addition, incubation with FS from P. eryngii mushroom led to the highest mean expression values for zonulin-1 and claudin-1 genes, which differed significantly compared to inulin (p for all <0.05). Overall, this research highlighted the beneficial in vitro effects of P. eryngii mushroom on the composition of GM of autistic children after 24 h of fermentation. Also, our data highlighted the potential preventive effect of P. eryngii FSs against dysregulation of the intestinal barrier, through upregulation of tight junctions’ genes associated with the integrity and function of the intestinal barrier. This research has been financed by "Supporting Researchers with Emphasis on Young Researchers - Round B", Operational Program "Human Resource Development, Education and Lifelong Learning."Keywords: gut microbiota, intestinal barrier, autism spectrum disorders, Pleurotus Eryngii
Procedia PDF Downloads 161108 Adaptation and Validation of Voice Handicap Index in Telugu Language
Authors: B. S. Premalatha, Kausalya Sahani
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Background: Voice is multidimensional which convey emotion, feelings, and communication. Voice disorders have an adverse effect on the physical, emotional and functional domains of an individual. Self-rating by clients about their voice problem helps the clinicians to plan intervention strategies. Voice handicap index is one such self-rating scale contains 30 questions that quantify the functional, physical and emotional impacts of a voice disorder on a patient’s quality of life. Each subsection has 10 questions. Though adapted and validated versions of VHI are available in other Indian languages but not in Telugu, which is a Dravidian language native to India. It is mainly spoken in Andhra Pradesh and neighbouring states in southern India. Objectives: To adapt and validate the English version of Voice Handicap Index (VHI) into Telugu language and evaluate its internal consistency and clinical validate in Telugu speaking population. Materials: The study carried out in three stages. First stage was a forward translation of English version of VHI, was given to ten experts, who were well proficient in writing and reading Telugu and five speech-language pathologists to translate into Telugu. Second Stage was backward translation where translated version of Telugu was given to a different group of ten experts (who were well proficient in writing and reading Telugu) and five speech-language pathologists who were native Telugu speakers and had good proficiency in Telugu and English. The third stage was an administration of translated version on Telugu to the targeted population. Totally 40 clinical subjects and 40 normal controls served as participants, and each group had 26 males and 14 females’ age range of 20 to 60 years. Clinical group comprised of individuals with laryngectomee with the Tracheoesophageal puncture (n=18), laryngitis (n=11), vocal nodules (n=7) and vocal fold palsy (n=4). Participants were asked to mark of their each experience on a 5 point equal appearing scale (0=never, 1=almost never, 2=sometimes, 3=almost always, 4=always) with a maximum total score of 120. Results: Statistical analysis was made by using SPSS software (22.0.0 Version). Mean, standard deviation and percentage (%) were calculated all the participants for both the groups. Internal consistency of VHI in Telugu was found to be excellent with the consistency scores for all the domains such as physical, emotional and functional are 0.742, 0.934and 0.938. The validity of scores showed a significant difference between clinical population and control group for domains like physical, emotional and functional and total scores. P value found to be less than 0.001( < 0.001). Negative correlation found in age and gender among self-domains such as physical, emotional and functional total scores in dysphonic and control group. Conclusion: The present study indicated that VHI in Telugu is able to discriminate participants having voice pathology from normal populations, which make this as a valid tool to collect information about their voice from the participants.Keywords: adaptation, Telugu Version, translation, Voice Handicap Index (VHI)
Procedia PDF Downloads 272107 Development of International Entry-Level Nursing Competencies to Address the Continuum of Substance Use
Authors: Cheyenne Johnson, Samantha Robinson, Christina Chant, Ann M. Mitchell, Carol Price, Carmel Clancy, Adam Searby, Deborah S. Finnell
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Introduction: Substance use along the continuum from at-risk use to a substance use disorder (SUD) contributes substantially to the burden of disease and related harms worldwide. There is a growing body of literature that highlights the lack of substance use related content in nursing curricula. Furthermore, there is also a lack of consensus on key competencies necessary for entry-level nurses. Globally, there is a lack of established nursing competencies related to prevention, health promotion, harm reduction and treatment of at-risk substance use and SUDs. At a critical time in public health, this gap in nursing curricula contributes to a lack of preparation for entry-level nurses to support people along the continuum of substance use. Thus, in practice, early opportunities for screening, support, and interventions may be missed. To address this gap, an international committee was convened to develop international entry-level nursing competencies specifying the knowledge, skills, and abilities that all nurses should possess in order to address the continuum of substance use. Methodology: An international steering committee, including representation from Canada, United States, United Kingdom, and Australia was established to lead this work over a one-year time period. The steering committee conducted a scoping review, undertaken to examine nursing competency frameworks, and to inform a competency structure that would guide this work. The next steps were to outline key competency areas and establish leaders for working groups to develop the competencies. In addition, a larger international committee was gathered to contribute to competency working groups, review the collective work and concur on the final document. Findings: A comprehensive framework was developed with competencies covering a wide spectrum of substance use across the lifespan and in the context of prevention, health promotion, harm reduction and treatment, including special populations. The development of this competency-based framework meets an identified need to provide guidance for universities, health authorities, policy makers, nursing regulators and other organizations that provide and support nursing education which focuses on care for patients and families with at-risk substance use and SUDs. Conclusion: Utilizing these global competencies as expected outcomes of an educational and skill building curricula for entry-level nurses holds great promise for incorporating evidence-informed training in the care and management of people across the continuum of substance use.Keywords: addiction nursing, addiction nursing curriculum, competencies, substance use
Procedia PDF Downloads 170106 Biocultural Biographies and Molecular Memories: A Study of Neuroepigenetics and How Trauma Gets under the Skull
Authors: Elsher Lawson-Boyd
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In the wake of the Human Genome Project, the life sciences have undergone some fascinating changes. In particular, conventional beliefs relating to gene expression are being challenged by advances in postgenomic sciences, especially by the field of epigenetics. Epigenetics is the modification of gene expression without changes in the DNA sequence. In other words, epigenetics dictates that gene expression, the process by which the instructions in DNA are converted into products like proteins, is not solely controlled by DNA itself. Unlike gene-centric theories of heredity that characterized much of the 20th Century (where the genes were considered as having almost god-like power to create life), gene expression in epigenetics insists on environmental ‘signals’ or ‘exposures’, a point that radically deviates from gene-centric thinking. Science and Technology Studies (STS) scholars have shown that epigenetic research is having vast implications for the ways in which chronic, non-communicable diseases are conceptualized, treated, and governed. However, to the author’s knowledge, there have not yet been any in-depth sociological engagements with neuroepigenetics that examine how the field is affecting mental health and trauma discourse. In this paper, the author discusses preliminary findings from a doctoral ethnographic study on neuroepigenetics, trauma, and embodiment. Specifically, this study investigates the kinds of causal relations neuroepigenetic researchers are making between experiences of trauma and the development of mental illnesses like complex post-traumatic stress disorder (PTSD), both throughout a human’s lifetime and across generations. Using qualitative interviews and nonparticipant observation, the author focuses on two public-facing research centers based in Melbourne: Florey Institute of Neuroscience and Mental Health (FNMH), and Murdoch Children’s Research Institute (MCRI). Preliminary findings indicate that a great deal of ambiguity characterizes this infant field, particularly when animal-model experiments are employed and the results are translated into human frameworks. Nevertheless, researchers at the FNMH and MCRI strongly suggest that adverse and traumatic life events have a significant effect on gene expression, especially when experienced during early development. Furthermore, they predict that neuroepigenetic research will have substantial implications for the ways in which mental illnesses like complex PTSD are diagnosed and treated. These preliminary findings shed light on why medical and health sociologists have good reason to be chiming in, engaging with and de-black-boxing ideations emerging from postgenomic sciences, as they may indeed have significant effects for vulnerable populations not only in Australia but other developing countries in the Global South.Keywords: genetics, mental illness, neuroepigenetics, trauma
Procedia PDF Downloads 122105 The M Health Paradigm for the Chronic Care Management of Obesity: New Opportunities in Clinical Psychology and Medicine
Authors: Gianluca Castelnuovo, Gian Mauro Manzoni, Giada Pietrabissa, Stefania Corti, Emanuele Giusti, Roberto Cattivelli, Enrico Molinari, Susan Simpson
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Obesity is currently an important public health problem of epidemic proportions (globesity). Moreover Binge Eating Disorder (BED) is typically connected with obesity, even if not occurring exclusively in conjunction with overweight conditions. Typically obesity with BED requires a longer term treatment in comparison with simple obesity. Rehabilitation interventions that aim at improving weight-loss, reducing obesity-related complications and changing dysfunctional behaviors, should ideally be carried out in a multidisciplinary context with a clinical team composed of psychologists, dieticians, psychiatrists, endocrinologists, nutritionists, physiotherapists, etc. Long-term outpatient multidisciplinary treatments are likely to constitute an essential aspect of rehabilitation, due to the growing costs of a limited inpatient approach. Internet-based technologies can improve long-term obesity rehabilitation within a collaborative approach. The new m health (m-health, mobile health) paradigm, defined as clinical practices supported by up to date mobile communication devices, could increase compliance- engagement and contribute to a significant cost reduction in BED and obesity rehabilitation. Five psychological components need to be considered for successful m Health-based obesity rehabilitation in order to facilitate weight-loss.1) Self-monitoring. Portable body monitors, pedometers and smartphones are mobile and, therefore, can be easily used, resulting in continuous self-monitoring. 2) Counselor feedback and communication. A functional approach is to provide online weight-loss interventions with brief weekly or monthly counselor or psychologist visits. 3) Social support. A group treatment format is typically preferred for behavioral weight-loss interventions. 4) Structured program. Technology-based weight-loss programs incorporate principles of behavior therapy and change with structured weekly protocolos including nutrition, exercise, stimulus control, self-regulation strategies, goal-setting. 5) Individually tailored program. Interventions specifically designed around individual’s goals typically record higher rates of adherence and weight loss. Opportunities and limitations of m health approach in clinical psychology for obesity and BED are discussed, taking into account future research directions in this promising area.Keywords: obesity, rehabilitation, out-patient, new technologies, tele medicine, tele care, m health, clinical psychology, psychotherapy, chronic care management
Procedia PDF Downloads 466104 Musical Notation Reading versus Alphabet Reading-Comparison and Implications for Teaching Music Reading to Students with Dyslexia
Authors: Ora Geiger
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Reading is a cognitive process of deciphering visual signs to produce meaning. During the reading process, written information of symbols and signs is received in the person’s eye and processed in the brain. This definition is relevant to both the reading of letters and the reading of musical notation. But while the letters of the alphabet are signs determined arbitrarily, notes are recorded systematically on a staff, with the location of each note on the staff indicating its relative pitch. In this paper, the researcher specifies the characteristics of alphabet reading in comparison to musical notation reading, and discusses the question whether a person diagnosed with dyslexia will necessarily have difficulty in reading musical notes. Dyslexia is a learning disorder that makes it difficult to acquire alphabet-reading skills due to difficulties expressed in the identification of letters, spelling, and other language deciphering skills. In order to read, one must be able to connect a symbol with a sound and to join the sounds into words. A person who has dyslexia finds it difficult to translate a graphic symbol into the sound that it represents. When teaching reading to children diagnosed with dyslexia, the multi-sensory approach, supporting the activation and involvement of most of the senses in the learning process, has been found to be particularly effective. According to this approach, when most senses participate in the reading learning process, it becomes more effective. During years of experience, the researcher, who is a music specialist, has been following the music reading learning process of elementary school age students, some of them diagnosed with Dyslexia, while studying to play soprano (descant) recorder. She argues that learning music reading while studying to play a musical instrument is a multi-sensory experience by its nature. The senses involved are: sight, hearing, touch, and the kinesthetic sense (motion), which provides the brain with information on the relative positions of the body. In this way, the learner experiences simultaneously visual, auditory, tactile, and kinesthetic impressions. The researcher concludes that there should be no contra-indication for teaching standard music reading to children with dyslexia if an appropriate process is offered. This conclusion is based on two main characteristics of music reading: (1) musical notation system is a systematic, logical, relative set of symbols written on a staff; and (2) music reading learning connected with playing a musical instrument is by its nature a multi-sensory activity since it combines sight, hearing, touch, and movement. This paper describes music reading teaching procedures and provides unique teaching methods that have been found to be effective for students who were diagnosed with Dyslexia. It provides theoretical explanations in addition to guidelines for music education practices.Keywords: alphabet reading, dyslexia, multisensory teaching method, music reading, recorder playing
Procedia PDF Downloads 358103 The Use of Social Stories and Digital Technology as Interventions for Autistic Children; A State-Of-The-Art Review and Qualitative Data Analysis
Authors: S. Hussain, C. Grieco, M. Brosnan
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Background and Aims: Autism is a complex neurobehavioural disorder, characterised by impairments in the development of language and communication skills. The study involved a state-of-art systematic review, in addition to qualitative data analysis, to establish the evidence for social stories as an intervention strategy for autistic children. An up-to-date review of the use of digital technologies in the delivery of interventions to autistic children was also carried out; to propose the efficacy of digital technologies and the use of social stories to improve intervention outcomes for autistic children. Methods: Two student researchers reviewed a range of randomised control trials and observational studies. The aim of the review was to establish if there was adequate evidence to justify recommending social stories to autistic patients. Students devised their own search strategies to be used across a range of search engines, including Ovid-Medline, Google Scholar and PubMed. Students then critically appraised the generated literature. Additionally, qualitative data obtained from a comprehensive online questionnaire on social stories was also thematically analysed. The thematic analysis was carried out independently by each researcher, using a ‘bottom-up’ approach, meaning contributors read and analysed responses to questions and devised semantic themes from reading the responses to a given question. The researchers then placed each response into a semantic theme or sub-theme. The students then joined to discuss the merging of their theme headings. The Inter-rater reliability (IRR) was calculated before and after theme headings were merged, giving IRR for pre- and post-discussion. Lastly, the thematic analysis was assessed by a third researcher, who is a professor of psychology and the director for the ‘Centre for Applied Autism Research’ at the University of Bath. Results: A review of the literature, as well as thematic analysis of qualitative data found supporting evidence for social story use. The thematic analysis uncovered some interesting themes from the questionnaire responses, relating to the reasons why social stories were used and the factors influencing their effectiveness in each case. However, overall, the evidence for digital technologies interventions was limited, and the literature could not prove a causal link between better intervention outcomes for autistic children and the use of technologies. However, they did offer valid proposed theories for the suitability of digital technologies for autistic children. Conclusions: Overall, the review concluded that there was adequate evidence to justify advising the use of social stories with autistic children. The role of digital technologies is clearly a fast-emerging field and appears to be a promising method of intervention for autistic children; however, it should not yet be considered an evidence-based approach. The students, using this research, developed ideas on social story interventions which aim to help autistic children.Keywords: autistic children, digital technologies, intervention, social stories
Procedia PDF Downloads 114102 Germline Mutations of Mitogen-Activated Protein Kinases Pathway Signaling Pathway Genes in Children
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 146101 Innovative Food Related Modification of the Day-Night Task Demonstrates Impaired Inhibitory Control among Patients with Binge-Purge Eating Disorder
Authors: Sigal Gat-Lazer, Ronny Geva, Dan Ramon, Eitan Gur, Daniel Stein
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Introduction: Eating disorders (ED) are common psychopathologies which involve distorted body image and eating disturbances. Binge-purge eating disorders (B/P ED) are characterized by repetitive events of binge eating followed by purges. Patients with B/P ED behavior may be seen as impulsive especially when relate to food stimulation and affective conditions. The current study included innovative modification of the day-night task targeted to assess inhibitory control among patients with B/P ED. Methods: This prospective study included 50 patients with B/P ED during acute phase of illness (T1) upon their admission to specialized ED department in tertiary center. 34 patients repeated the study towards discharge to ambulatory care (T2). Treatment effect was evaluated by BMI and emotional questionnaires regarding depression and anxiety by the Beck Depression Inventory and State Trait Anxiety Inventory questionnaires. Control group included 36 healthy controls with matched demographic parameters who performed both T1 and T2 assessments. The current modification is based on the emotional day-night task (EDNT) which involves five emotional stimulation added to the sun and moon pictures presented to participants. In the current study, we designed the food-emotional modification day night task (F-EDNT) food stimulations of egg and banana which resemble the sun and moon, respectively, in five emotional states (angry, sad, happy, scrambled and neutral). During this computerized task, participants were instructed to push on “day” bottom in response to moon and banana stimulations and on “night” bottom when sun and egg were presented. Accuracy (A) and reaction time (RT) were evaluated and compared between EDNT and F-EDNT as a reflection of participants’ inhibitory control. Results: Patients with B/P ED had significantly improved BMI, depression and anxiety scores on T2 compared to T1 (all p<0.001). Task performance was similar among patients and controls in the EDNT without significant A or RT differences in both T1 and T2. On F-EDNT during T1, B/P ED patients had significantly reduced accuracy in 4/5 emotional stimulation compared to controls: angry (73±25% vs. 84±15%, respectively), sad (69±25% vs. 80±18%, respectively), happy (73±24% vs. 82±18%, respectively) and scrambled (74±24% vs. 84±13%, respectively, all p<0.05). Additionally, patients’ RT to food stimuli was significantly faster compared to neutral ones, in both cry and neutral emotional stimulations (356±146 vs. 400±141 and 378±124 vs. 412±116 msec, respectively, p<0.05). These significant differences between groups as a function of stimulus type were diminished on T2. Conclusion: Having to process food related content, in particular in emotional context seems to be impaired in patients with B/P ED during the acute phase of their illness and elicits greater impulsivity. Innovative modification using such procedures seem to be sensitive to patients’ illness phase and thus may be implemented during screening and follow up through the clinical management of these patients.Keywords: binge purge eating disorders, day night task modification, eating disorders, food related stimulations
Procedia PDF Downloads 378100 Health and Disease, Sickness and Well Being: Depictions in the Vinaya Pitaka and Jataka Narratives
Authors: Abhimanyu Kumar
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The relationship between religion and medicine is much evident in the context of Buddhism. This paper is an attempt to look at the processes of social and cultural evolution of scientific creativity in the field of medicine and institutionalization of medical practices. The objective of the paper is to understand the Buddhist responses towards health as understood from the Vinaya Piṭaka and the Jātaka. This work is a result of the analysis of two important Buddhist texts: the Vinaya Piṭaka and the Jātaka. Broadly the Vinaya Piṭaka is concerned with the growth of Buddhist monasticism. The Vinaya Piṭaka is considered one of the most important sacred texts of the Buddhists, and contains rules for monastic life. These rules deal with such aspects as formal meetings of the saṃgha (monastery), expiation, confession, training, and legal questions. The Jātaka stories, on the other hand, are in the form of folk narratives, and provide a major source of medical consultation for all classes. These texts help us to ascertain the ‘proficiency and perceptions’ of the prevailing medical traditions. The Jātakas are a collection of 547 stories about the past lives of the Buddha, who is represented in anthropomorphic and animal form. The Jātaka connects itself between existing cognitive environments related to ethics and Buddhist didacticism. These stories are a reflection of the connection between the past and contemporary times (in the sense of time of creation of the story) as well. This is visible through the narrative strategy of the text, where every story is sub-divided into the story of the past and story of the present, and there is a significant identification element or connection that established at the end of each story. The minimal presence of philosophical content and the adoption of a narrative strategy make it possible for more of everyday life. This study gives me an opportunity to raise questions about how far were the body and mind closely interrelated in the Buddhist perceptions, and also did the society act like a laboratory for the Buddhists to practice healing activities? How far did religious responses to afflictions, be they leprosy or plague or anger, influence medical care; what impact did medical practitioners, religious authorities and the regulation of medical activity and practice have on healing the body and the mind; and, how has the healing environment been viewed. This paper is working with the idea that medical science in early India was not only for the curative purpose of diseases, but it fulfilled a greater cause of promoting, maintaining and restoring human health. In this regard, studying these texts gives an insight regarding religious responses to epidemics, from leprosy to plague, as well as to behavioral disorder such as anger. In other words, it deals with the idea about healing the body and healing the soul from a religious perspective.Keywords: food for health, folk narratives, human body, materia medica, social sickness
Procedia PDF Downloads 27399 Nature of Body Image Distortion in Eating Disorders
Authors: Katri K. Cornelissen, Lise Gulli Brokjob, Kristofor McCarty, Jiri Gumancik, Martin J. Tovee, Piers L. Cornelissen
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Recent research has shown that body size estimation of healthy women is driven by independent attitudinal and perceptual components. The attitudinal component represents psychological concerns about body, coupled to low self-esteem and a tendency towards depressive symptomatology, leading to over-estimation of body size, independent of the Body Mass Index (BMI) someone actually has. The perceptual component is a normal bias known as contraction bias, which, for bodies is dependent on actual BMI. Women with a BMI less than the population norm tend to overestimate their size, while women with a BMI greater than the population norm tend to underestimate their size. Women whose BMI is close to the population mean are most accurate. This is indexed by a regression of estimated BMI on actual BMI with a slope less than one. It is well established that body dissatisfaction, i.e. an attitudinal distortion, leads to body size overestimation in eating disordered individuals. However, debate persists as to whether women with eating disorders may also suffer a perceptual body distortion. Therefore, the current study was set to ask whether women with eating disorders exhibit the normal contraction bias when they estimate their own body size. If they do not, this would suggest differences in the way that women with eating disorders process the perceptual aspects of body shape and size in comparison to healthy controls. 100 healthy controls and 33 women with a history of eating disorders were recruited. Critically, it was ensured that both groups of participants represented comparable and adequate ranges of actual BMI (e.g. ~18 to ~40). Of those with eating disorders, 19 had a history of anorexia nervosa, 6 bulimia nervosa, and 8 OSFED. 87.5% of the women with a history of eating disorders self-reported that they were either recovered or recovering, and 89.7% of them self-reported that they had had one or more instances of relapse. The mean time lapsed since first diagnosis was 5 years and on average participants had experienced two relapses. Participants were asked to fill number of psychometric measures (EDE-Q, BSQ, RSE, BDI) to establish the attitudinal component of their body image as well as their tendency to internalize socio-cultural body ideals. Additionally, participants completed a method of adjustment psychophysical task, using photorealistic avatars calibrated for BMI, in order to provide an estimate of their own body size and shape. The data from the healthy controls replicate previous findings, revealing independent contributions to body size estimation from both attitudinal and perceptual (i.e. contraction bias) body image components, as described above. For the eating disorder group, once the adequacy of their actual BMI ranges was established, a regression of estimated BMI on actual BMI had a slope greater than 1, significantly different to that from controls. This suggests that (some) eating disordered individuals process the perceptual aspects of body image differently from healthy controls. It therefore is necessary to develop interventions which are specific to the perceptual processing of body shape and size for the management of (some) individuals with eating disorders.Keywords: body image distortion, perception, recovery, relapse, BMI, eating disorders
Procedia PDF Downloads 6198 Inhibition of the Activity of Polyphenol Oxidase Enzyme Present in Annona muricata and Musa acuminata by the Experimentally Identified Natural Anti-Browning Agents
Authors: Michelle Belinda S. Weerawardana, Gobika Thiripuranathar, Priyani A. Paranagama
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Most of fresh vegetables and fruits available in the retail markets undergo a physiological disorder in its appearance and coloration, which indeed discourages consumer purchase. A loss of millions of dollars yearly to the food industry had been due to this pronounced color reaction called Enzymatic Browning which is driven due to the catalytic activity by an oxidoreductase enzyme, polyphenol oxidase (PPO). The enzyme oxidizes the phenolic compounds which are abundantly available in fruits and vegetables as substrates into quinones, which could react with proteins in its surrounding to generate black pigments, called melanins, which are highly UV-active compounds. Annona muricata (Katu anoda) and Musa acuminata (Ash plantains) is a fruit and a vegetable consumed by Sri Lankans widely due to their high nutritional values, medicinal properties and economical importance. The objective of the present study was to evaluate and determine the effective natural anti-browning inhibitors that could prevent PPO activity in the selected fruit and vegetable. Enzyme extracts from Annona muricata (Katu anoda) and Musa acuminata (Ash plantains), were prepared by homogenizing with analytical grade acetone, and pH of each enzyme extract was maintained at 7.0 using a phosphate buffer. The extracts of inhibitors were prepared using powdered ginger rhizomes and essential oil from the bark of Cinnamomum zeylanicum. Water extracts of ginger were prepared and the essential oil from Ceylon cinnamon bark was extracted using steam distillation method. Since the essential oil is not soluble in water, 0.1µl of cinnamon bark oil was mixed with 0.1µl of Triton X-100 emulsifier and 5.00 ml of water. The effect of each inhibitor on the PPO activity was investigated using catechol (0.1 mol dm-3) as the substrate and two samples of enzyme extracts prepared. The dosages of the prepared Cinnamon bark oil, and ginger (2 samples) which were used to measure the activity were 0.0035 g/ml, 0.091 g/ml and 0.087 g/ml respectively. The measurements of the inhibitory activity were obtained at a wavelength of 525 nm using the UV-visible spectrophotometer. The results evaluated thus revealed that % inhibition observed with cinnamon bark oil, and ginger for Annona muricata was 51.97%, and 60.90% respectively. The effects of cinnamon bark oil, and ginger extract on PPO activity of Musa acuminata were 49.51%, and 48.10%. The experimental findings thus revealed that Cinnamomum zeylanicum bark oil was a more effective inhibitor for PPO enzyme present in Musa acuminata and ginger was effective for PPO enzyme present in Annona muricata. Overall both the inhibitors were proven to be more effective towards the activities of PPO enzyme present in both samples. These inhibitors can thus be corroborated as effective, natural, non-toxic, anti-browning extracts, which when added to the above fruit and vegetable will increase the shelf life and also the acceptance of the product by the consumers.Keywords: anti-browning agent, enzymatic browning, inhibitory activity, polyphenol oxidase
Procedia PDF Downloads 26997 Prevalence of Positive Serology for Celiac Disease in Children With Autism Spectrum Disorder
Authors: A. Venkatakrishnan, M. Juneja, S. Kapoor
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Background: Gastrointestinal dysfunction is an emerging co morbidity seen in autism and may further strengthen the association between autism and celiac disease. This is supported by increased rates (22-70%) of gastrointestinal symptoms like diarrhea, constipation, abdominal discomfort/pain, and gastrointestinal inflammation in children with the etiology of autism is still elusive. In addition to genetic factors, environmental factors such as toxin exposure, intrauterine exposure to certain teratogenic drugs, are being proposed as possible contributing factors in the etiology of Autism Spectrum Disorders (ASD) in cognizance with reports of increased gut permeability and high rates of gastrointestinal symptoms noted in children with ASD, celiac disease has also been proposed as a possible etiological factor. Despite insufficient evidence regarding the benefit of restricted diets in Autism, GFD has been promoted as an alternative treatment for ASD. This study attempts to discern any correlation between ASD and celiac disease. Objective: This cross sectional study aims to determine the proportion of celiac disease in children with ASD. Methods: Study included 155 participants aged 2-12 yrs, diagnosed as ASD as per DSM-5 attending the child development center at a tertiary care hospital in Northern India. Those on gluten free diet or having other autoimmune conditions were excluded. A detailed Performa was filled which included sociodemographic details, history of gastrointestinal symptoms, anthropometry, systemic examination, and pertinent psychological testing was done using was assessed using Developmental Profile-3(DP-3) for Developmental Quotient, Childhood Autism Rating Scale-2 (CARS-2) for severity of ASD, Vineland Adaptive Behavior Scales (VABS) for adaptive behavior, Child Behavior Checklist (CBCL) for behavioral problems and BAMBI (Brief Autism Mealtime Behavior Scales) for feeding problems. Screening for celiac was done by TTG-IgA levels, and total serum IgA levels were measured to exclude IgA deficiency. Those with positive screen were further planned for HLA typing and endoscopic biopsy. Results: A total of 155 cases were included, out of which 5 had low IgA levels and were hence excluded from the study. The rest 150 children had TTG levels below the ULN and normal total serum IgA level. History of Gastrointestinal symptoms was present in 51 (34%) cases abdominal pain was the most frequent complaint (16.6%), followed by constipation (12.6%). Diarrhea was seen in 8 %. Gastrointestinal symptoms were significantly more common in children with ASD above 5 yrs (p-value 0.006) and those who were verbal (p = 0.000). There was no significant association between socio-demographic factors, anthropometric data, or severity of autism with gastrointestinal symptoms. Conclusion: None of the150 patients with ASD had raised TTG levels; hence no association was found between ASD and celiac disease. There is no justification for routine screening for celiac disease in children with ASD. Further studies are warranted to evaluate association of Non Celiac Gluten Sensitivity with ASD and any role of gluten-free diet in such patients.Keywords: autism, celiac, gastrointestinal, gluten
Procedia PDF Downloads 11596 Radioprotective Efficacy of Costus afer against the Radiation-Induced Hematology and Histopathology Damage in Mice
Authors: Idowu R. Akomolafe, Naven Chetty
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Background: The widespread medical application of ionizing radiation has raised public concern about radiation exposure and, thus, associated cancer risk. The production of reactive oxygen species and free radicals as a result of radiation exposure can cause severe damage to deoxyribonucleic acid (DNA) of cells, thus leading to biological effect. Radiotherapy is an excellent modality in the treatment of cancerous cells, comes with a few challenges. A significant challenge is the exposure of healthy cells surrounding the tumour to radiation. The last few decades have witnessed lots of attention shifted to plants, herbs, and natural product as an alternative to synthetic compound for radioprotection. Thus, the study investigated the radioprotective efficacy of Costus afer against whole-body radiation-induced haematological, histopathological disorder in mice. Materials and Method: Fifty-four mice were randomly divided into nine groups. Animals were pretreated with the extract of Costus afer by oral gavage for six days before irradiation. Control: 6 mice received feed and water only; 6 mice received feed, water, and 3Gy; 6 mice received feed, water, and 6Gy; experimental: 6 mice received 250 mg/kg extract; 6 mice received 500 mg/kg extract; 6 mice received 250 mg/kg extract and 3Gy; 6 mice received 500 mg/kg extract and 3Gy; 6 mice received 250 mg/kg extract and 6Gy; 6 mice received 500 mg/kg extract and 6Gy in addition to feeding and water. The irradiation was done at the Radiotherapy and Oncology Department of Grey's Hospital using linear accelerator (LINAC). Thirty-six mice were sacrificed by cervical dislocation 48 hours after irradiation, and blood was collected for haematology tests. Also, the liver and kidney of the sacrificed mice were surgically removed for histopathology tests. The remaining eighteen (18) mice were used for mortality and survival studies. Data were analysed by one-way ANOVA, followed by Tukey's multiple comparison test. Results: Prior administration of Costus afer extract decreased the symptoms of radiation sickness and caused a significant delay in the mortality as demonstrated in the experimental mice. The first mortality was recorded on day-5 post irradiation, and this happened to the group E- that is, mice that received 6Gy but no extract. There was significant protection in the experimental mice, as demonstrated in the blood counts against hematopoietic and gastrointestinal damage when compared with the control. The protection was seen in the increase in blood counts of experimental animals and the number of survivor. The protection offered by Costus afer may be due to its ability to scavenge free radicals and restore gastrointestinal and bone marrow damage produced by radiation. Conclusions: The study has demonstrated that exposure of mice to radiation could cause modifications in the haematological and histopathological parameters of irradiated mice. However, the changes were relieved by the methanol extract of Costus afer, probably through its free radical scavenging and antioxidant properties.Keywords: costus afer, hematological, mortality, radioprotection, radiotherapy
Procedia PDF Downloads 13595 ATR-IR Study of the Mechanism of Aluminum Chloride Induced Alzheimer Disease - Curative and Protective Effect of Lepidium sativum Water Extract on Hippocampus Rats Brain Tissue
Authors: Maha J. Balgoon, Gehan A. Raouf, Safaa Y. Qusti, Soad S. Ali
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The main cause of Alzheimer disease (AD) was believed to be mainly due to the accumulation of free radicals owing to oxidative stress (OS) in brain tissue. The mechanism of the neurotoxicity of Aluminum chloride (AlCl3) induced AD in hippocampus Albino wister rat brain tissue, the curative & the protective effects of Lipidium sativum group (LS) water extract were assessed after 8 weeks by attenuated total reflection spectroscopy ATR-IR and histologically by light microscope. ATR-IR results revealed that the membrane phospholipid undergo free radical attacks, mediated by AlCl3, primary affects the polyunsaturated fatty acids indicated by the increased of the olefinic -C=CH sub-band area around 3012 cm-1 from the curve fitting analysis. The narrowing in the half band width(HBW) of the sνCH2 sub-band around 2852 cm-1 due to Al intoxication indicates the presence of trans form fatty acids rather than gauch rotomer. The degradation of hydrocarbon chain to shorter chain length, increasing in membrane fluidity, disorder and decreasing in lipid polarity in AlCl3 group were indicated by the detected changes in certain calculated area ratios compared to the control. Administration of LS was greatly improved these parameters compared to the AlCl3 group. Al influences the Aβ aggregation and plaque formation, which in turn interferes to and disrupts the membrane structure. The results also showed a marked increase in the β-parallel and antiparallel structure, that characterize the Aβ formation in Al-induced AD hippocampal brain tissue, indicated by the detected increase in both amide I sub-bands around 1674, 1692 cm-1. This drastic increase in Aβ formation was greatly reduced in the curative and protective groups compared to the AlCl3 group and approaches nearly the control values. These results were supported too by the light microscope. AlCl3 group showed significant marked degenerative changes in hippocampal neurons. Most cells appeared small, shrieked and deformed. Interestingly, the administration of LS in curative and protective groups markedly decreases the amount of degenerated cells compared to the non-treated group. Also the intensity of congo red stained cells was decreased. Hippocampal neurons looked more/or less similar to those of control. This study showed a promising therapeutic effect of Lipidium sativum group (LS) on AD rat model that seriously overcome the signs of oxidative stress on membrane lipid and restore the protein misfolding.Keywords: aluminum chloride, alzheimer disease, ATR-IR, Lipidium sativum
Procedia PDF Downloads 35694 Estimation of Level of Pesticide in Recurrent Pregnancy Loss and Its Correlation with Paraoxanase1 Gene in North Indian Population
Authors: Apurva Singh, S. P. Jaiswar, Apala Priyadarshini, Akancha Pandey
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Objective: The aim of this study is to find the association of PON1 gene polymorphism with pesticides In RPL subjects. Background: Recurrent pregnancy loss (RPL) is defined as three or more sequential abortions before the 20th week of gestation. Pesticides and its derivatives (organochlorine and organophosphate) are proposed to accommodate a ruler chemical for RPL in the sub-humid region of India. The paraoxonase-1 enzyme (PON1) plays an important role in the toxicity of some organophosphate pesticides, with low PON1 activity being associated with higher pesticide sensitivity Methodology: This is a case-control study done in Department of Obstetrics & Gynaecology & Department of Biochemistry, K.G.M.U, Lucknow, India. The subjects were enrolled after fulfilling the inclusion & exclusion criteria. Inclusion criteria: Cases- Subject having two or more spontaneous abortions & Control- Healthy female having one or more alive child was selected. Exclusion criteria: Cases & Control- Subject having the following disease will be excluded from the study Diabetes mellitus, Hypertension, Tuberculosis, Immunocompromised patients, any endocrine disorder and genital, colon or breast cancer any other malignancies. Blood samples were collected in EDTA tubes from cases & healthy control women & genomic DNA was extracted by phenol-chloroform method. The estimation of pesticides residue from blood was done by HPLC. Biochemical estimation was also performed. Genotyping of PON1 gene polymorphism was performed by RFLP. Statistical analysis of the data was performed using the SPSS16.3 software. Results: A sum of total 14 pesticides (12 organochlorine and 2 organophosphate) selected on the basis of their persistent nature and consumption rate. The significant level of pesticide (ppb) estimated by the Mann whiney test and it was found to be significant at higher level of β-HCH (p:0.04), γ-HCH (p:0.001), δ-HCH (p: 0.002), chloropyrifos (p:0.001), pp-DDD (p:0.001) and fenvalrate (p: 0.001) in case group compare to its control. The level of antioxidant enzymes were found to be significantly decreased among the cases. Wild homozygous TT was more frequent and prevalent among control groups. However, heterozygous group (Tt) was more in cases than control groups (CI-0.3-1.3) (p=0.06). Conclusion: Higher levels of pesticides with endocrine disrupting potential in cases indicate the possible role of these compounds as one of the causes of recurrent pregnancy loss. Possibly, increased pesticide level appears to indicate increased levels of oxidative damage that has been associated with the possible cause of Recurrent Miscarriage, it may reflect indirect evidence of toxicity rather than the direct cause. Since both factors are reported to increase risk, individuals with higher levels of these 'Toxic compounds' especially in 'high-risk genotypes' might be more susceptible to recurrent pregnancy loss.Keywords: paraoxonase, pesticides, PON1, RPL
Procedia PDF Downloads 13793 A New Perspective in Cervical Dystonia: Neurocognitive Impairment
Authors: Yesim Sucullu Karadag, Pinar Kurt, Sule Bilen, Nese Subutay Oztekin, Fikri Ak
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Background: Primary cervical dystonia is thought to be a purely motor disorder. But recent studies revealed that patients with dystonia had additional non-motor features. Sensory and psychiatric disturbances could be included into the non-motor spectrum of dystonia. The Basal Ganglia receive inputs from all cortical areas and throughout the thalamus project to several cortical areas, thus participating to circuits that have been linked to motor as well as sensory, emotional and cognitive functions. However, there are limited studies indicating cognitive impairment in patients with cervical dystonia. More evidence is required regarding neurocognitive functioning in these patients. Objective: This study is aimed to investigate neurocognitive profile of cervical dystonia patients in comparison to healthy controls (HC) by employing a detailed set of neuropsychological tests in addition to self-reported instruments. Methods: Totally 29 (M/F: 7/22) cervical dystonia patients and 30 HC (M/F: 10/20) were included into the study. Exclusion criteria were depression and not given informed consent. Standard demographic, educational data and clinical reports (disease duration, disability index) were recorded for all patients. After a careful neurological evaluation, all subjects were given a comprehensive battery of neuropsychological tests: Self report of neuropsychological condition (by visual analogue scale-VAS, 0-100), RAVLT, STROOP, PASAT, TMT, SDMT, JLOT, DST, COWAT, ACTT, and FST. Patients and HC were compared regarding demographic, clinical features and neurocognitive tests. Also correlation between disease duration, disability index and self report -VAS were assessed. Results: There was no difference between patients and HCs regarding socio-demographic variables such as age, gender and years of education (p levels were 0.36, 0.436, 0.869; respectively). All of the patients were assessed at the peak of botulinum toxine effect and they were not taking an anticholinergic agent or benzodiazepine. Dystonia patients had significantly impaired verbal learning and memory (RAVLT, p<0.001), divided attention and working memory (ACTT, p<0.001), attention speed (TMT-A and B, p=0.008, 0.050), executive functions (PASAT, p<0.001; SDMT, p= 0.001; FST, p<0.001), verbal attention (DST, p=0.001), verbal fluency (COWAT, p<0.001), visio-spatial processing (JLOT, p<0.001) in comparison to healthy controls. But focused attention (STROOP-spontaneous correction) was not different between two groups (p>0.05). No relationship was found regarding disease duration and disability index with any neurocognitive tests. Conclusions: Our study showed that neurocognitive functions of dystonia patients were worse than control group with the similar age, sex, and education independently clinical expression like disease duration and disability index. This situation may be the result of possible cortical and subcortical changes in dystonia patients. Advanced neuroimaging techniques might be helpful to explain these changes in cervical dystonia patients.Keywords: cervical dystonia, neurocognitive impairment, neuropsychological test, dystonia disability index
Procedia PDF Downloads 40892 Efficacy Testing of a Product in Reducing Facial Hyperpigmentation and Photoaging after a 12-Week Use
Authors: Nalini Kaul, Barrie Drewitt, Elsie Kohoot
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Hyperpigmentation is the third most common pigmentary disorder where dermatologic treatment is sought. It affects all ages resulting in skin darkening because of melanin accumulation. An uneven skin tone because of either exposure to the sun (solar lentigos/age spots/sun spots or skin disruption following acne, or rashes (post-inflammatory hyperpigmentation -PIH) or hormonal changes (melasma) can lead to significant psychosocial impairment. Dyschromia is a result of various alterations in biochemical processes regulating melanogenesis. Treatments include the daily use of sunscreen with lightening, brightening, and exfoliating products. Depigmentation is achieved by various depigmenting agents: common examples are hydroquinone, arbutin, azelaic acid, aloesin, mulberry, licorice extracts, kojic acid, niacinamide, ellagic acid, arbutin, green tea, turmeric, soy, ascorbic acid, and tranexamic acid. These agents affect pigmentation by interfering with mechanisms before, during, and after melanin synthesis. While immediate correction is much sought after, patience and diligence are key. Our objective was to assess the effects of a facial product with pigmentation treatment and UV protection in 35 healthy F (35-65y), meeting the study criteria. Subjects with mild to moderate hyperpigmentation and fine lines with no use of skin-lightening products in the last six months or any dermatological procedures in the last twelve months before the study started were included. Efficacy parameters included expert clinical grading for hyperpigmentation, radiance, skin tone & smoothness, fine lines, and wrinkles bioinstrumentation (Corneometer®, Colorimeter®), digital photography and imaging (Visia-CR®), and self-assessment questionnaires. Safety included grading for erythema, edema, dryness & peeling and self-assessments for itching, stinging, tingling, and burning. Our results showed statistically significant improvement in clinical grading scores, bioinstrumentation, and digital photos for hyperpigmentation-brown spots, fine lines/wrinkles, skin tone, radiance, pores, skin smoothness, and overall appearance compared to baseline. The product was also well-tolerated and liked by subjects. Conclusion: Facial hyperpigmentation is of great concern, and treatment strategies are increasingly sought. Clinical trials with both subjective and objective assessments, imaging analyses, and self-perception are essential to distinguish evidence-based products. The multifunctional cosmetic product tested in this clinical study showed efficacy, tolerability, and subject satisfaction in reducing hyperpigmentation and global photoaging.Keywords: hyperpigmentation; photoaging, clinical testing, expert visual evaluations, bio-instruments
Procedia PDF Downloads 7291 Determining the Threshold for Protective Effects of Aerobic Exercise on Aortic Structure in a Mouse Model of Marfan Syndrome Associated Aortic Aneurysm
Authors: Christine P. Gibson, Ramona Alex, Michael Farney, Johana Vallejo-Elias, Mitra Esfandiarei
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Aortic aneurysm is the leading cause of death in Marfan syndrome (MFS), a connective tissue disorder caused by mutations in fibrillin-1 gene (FBN1). MFS aneurysm is characterized by weakening of the aortic wall due to elastin fibers fragmentation and disorganization. The above-average height and distinct physical features make young adults with MFS desirable candidates for competitive sports; but little is known about the exercise limit at which they will be at risk for aortic rupture. On the other hand, aerobic cardiovascular exercise has been shown to have protective effects on the heart and aorta. We have previously reported that mild aerobic exercise can delay the formation of aortic aneurysm in a mouse model of MFS. In this study, we aimed to investigate the effects of various levels of exercise intensity on the progression of aortic aneurysm in the mouse model. Starting at 4 weeks of age, we subjected control and MFS mice to different levels of exercise intensity (8m/min, 10m/min, 15m/min, and 20m/min, corresponding to 55%, 65%, 75%, and 85% of VO2 max, respectively) on a treadmill for 30 minutes per day, five days a week for the duration of the study. At 24 weeks of age, aortic tissue were isolated and subjected to structural and functional studies using histology and wire myography in order to evaluate the effects of different exercise routines on elastin fragmentation and organization and aortic wall elasticity/stiffness. Our data shows that exercise training at the intensity levels between 55%-75% significantly reduces elastin fragmentation and disorganization, with less recovery observed in 85% MFS group. The reversibility of elasticity was also significantly restored in MFS mice subjected to 55%-75% intensity; however, the recovery was less pronounced in MFS mice subjected to 85% intensity. Furthermore, our data shows that smooth muscle cells (SMCs) contractilion in response to vasoconstrictor agent phenylephrine (100nM) is significantly reduced in MFS aorta (54.84 ± 1.63 mN/mm2) as compared to control (95.85 ± 3.04 mN/mm2). At 55% of intensity, exercise did not rescue SMCs contraction (63.45 ± 1.70 mN/mm2), while at higher intensity levels, SMCs contraction in response to phenylephrine was restored to levels similar to control aorta [65% (81.88 ± 4.57 mN/mm2), 75% (86.22 ± 3.84 mN/mm2), and 85% (83.91 ± 5.42 mN/mm2)]. This study provides the first time evidence that high intensity exercise (e.g. 85%) may not provide the most beneficial effects on aortic function (vasoconstriction) and structure (elastin fragmentation, aortic wall elasticity) during the progression of aortic aneurysm in MFS mice. On the other hand, based on our observations, medium intensity exercise (e.g. 65%) seems to provide the utmost protective effects on aortic structure and function in MFS mice. These findings provide new insights into the potential capacity, in which MFS patients could participate in various aerobic exercise routines, especially in young adults affected by cardiovascular complications particularly aortic aneurysm. This work was funded by Midwestern University Research Fund.Keywords: aerobic exercise, aortic aneurysm, aortic wall elasticity, elastin fragmentation, Marfan syndrome
Procedia PDF Downloads 37490 Applying a SWOT Analysis to Inform the Educational Provision of Learners with Autism Spectrum Disorders
Authors: Claire Sciberras
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Introduction: Autism Spectrum Disorder (ASD) has become recognized as being the most common childhood neurological condition. Indeed, numerous studies demonstrate an increase in the prevalence rate of children diagnosed with ASD. Concurrent with these findings, the European Agency for Special Needs and Inclusive Education reported a similar escalating tendency in prevalence also in Malta. Such an increase within the educational context in Malta has led the European Agency to call for increased support within educational settings in Malta. However, although research has addressed the positive impact of mainstream education on learners with ASD, empirical studies vis-à-vis the internal and external strengths and weaknesses present within the support provided in mainstream settings in Malta is distinctly limited. In light of the aforementioned argument, Malta would benefit from research which focuses on analysing the strengths, weaknesses, opportunities, and threats (SWOTs) which are present within the support provision of learners with ASD in mainstream primary schools. Such SWOT analysis is crucial as lack of appropriate opportunities might jeopardize the educational and social experiences of persons with ASD throughout their schooling. Methodology: A mixed methodological approach would be well suited to examine the provision of support of learners with ASD as the combination of qualitative and quantitative approaches allows researchers to collect a comprehensive range of data and validate their results. Hence, it is intended that questionnaires will be distributed to all the stakeholders involved so as to acquire a broader perspective to be collected from a wider group who provide support to students with ASD across schools in Malta. Moreover, the use of a qualitative approach in the form of interviews with a sample group will be implemented. Such an approach will be considered as it would potentially allow the researcher to gather an in-depth perspective vis-à-vis to the nature of the services which are currently provided to learners with ASD. The intentions of the study: Through the analysis of the data collected vis-à-vis to the SWOTs within the provision of support of learners with ASD it is intended that; i) a description in regards to the educational provision for learners with ASD within mainstream primary schools in Malta in light of the experiences and perceptions of the stakeholders involved will be acquired; ii) an analysis of the SWOTs which exist within the services for learners with ASD in primary state schools in Malta is carried out and iii) based on the SWOT analysis, recommendations that can lead to improvements in practice in the field of ASD in Malta and beyond will be provided. Conclusion: Due to the heterogeneity of individuals with ASD which spans across several deficits related to the social communication and interaction domain and also across areas linked to restricted, repetitive behavioural patterns, educational settings need to alter their standards according to the needs of their students. Thus, the standards established by schools throughout prior phases do not remain applicable forever, and therefore these need to be reviewed periodically in accordance with the diversities and the necessities of their learners.Keywords: autism spectrum disorders, mainstream educational settings, provision of support, SWOT analysis
Procedia PDF Downloads 18089 Chinese Acupuncture: A Potential Treatment for Autism Rat Model via Improving Synaptic Function
Authors: Sijie Chen, Xiaofang Chen, Juan Wang, Yingying Zhang, Yu Hong, Wanyu Zhuang, Xinxin Huang, Ping Ou, Longsheng Huang
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Purpose: Autistic symptom improvement can be observed in children treated with acupuncture, but the mechanism is still being explored. In the present study, we used scalp acupuncture to treat autism rat model, and then their improvement in the abnormal behaviors and specific mechanisms behind were revealed by detecting animal behaviors, analyzing the RNA sequencing of the prefrontal cortex(PFC), and observing the ultrastructure of PFC neurons under the transmission electron microscope. Methods: On gestational day 12.5, Wistar rats were given valproic acid (VPA) by intraperitoneal injection, and their offspring were considered to be reliable rat models of autism. They were randomized to VPA or VPA-acupuncture group (n=8). Offspring of Wistar pregnant rats that were simultaneously injected with saline were randomly selected as the wild-type group (WT). VPA_acupuncture group rats received acupuncture intervention at 23 days of age for 4 weeks, and the other two groups followed without intervention. After the intervention, all experimental rats underwent behavioral tests. Immediately afterward, they were euthanized by cervical dislocation, and their prefrontal cortex was isolated for RNA sequencing and transmission electron microscopy. Results: The main results are as follows: 1. Animal behavioural tests: VPA group rats showed more anxiety-like behaviour and repetitive, stereotyped behaviour than WT group rats. While VPA group rats showed less spatial exploration ability, activity level, social interaction, and social novelty preference than WT group rats. It was gratifying to observe that acupuncture indeed improved these abnormal behaviors of autism rat model. 2. RNA-sequencing: The three groups of rats differed in the expression and enrichment pathways of multiple genes related to synaptic function, neural signal transduction, and circadian rhythm regulation. Our experiments indicated that acupuncture can alleviate the major symptoms of ASD by improving these neurological abnormalities. 3. Under the transmission electron microscopy, several lysosomes and mitochondrial structural abnormalities were observed in the prefrontal neurons of VPA group rats, which were manifested as atrophy of the mitochondrial membran, blurring or disappearance of the mitochondrial cristae, and even vacuolization. Moreover, the number of synapses and synaptic vesicles was relatively small. Conversely, the mitochondrial structure of rats in the WT group and VPA_acupuncture was normal, and the number of synapses and synaptic vesicles was relatively large. Conclusion: Acupuncture effectively improved the abnormal behaviors of autism rat model and the ultrastructure of the PFC neurons, which might worked by improving their abnormal synaptic function, synaptic plasticity and promoting neuronal signal transduction.Keywords: autism spectrum disorder, acupuncture, animal behavior, RNA sequencing, transmission electron microscope
Procedia PDF Downloads 3388 Mental Health on Three Continents: A Comparison of Mental Health Disorders in the Usa, India and Brazil
Authors: Henry Venter, Murali Thyloth, Alceu Casseb
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Historically, mental and substance use disorders were not a global health priority. Since the 1993 World Development Report, the importance of the contribution of mental health and substance abuse on the relative global burden associated with disease morbidity has been recognized with 300 million people worldwide suffering from depression alone. This led to an international effort to improve the mental health of populations around the world. Despite these efforts some countries remain at the top of the list of countries with the highest rate of mental illness. Important research questions were asked: Would there be commonalities regarding mental health between these countries; would there be common factors leading to the high prevalence of mental illness; and how prepared are these countries with mental health delivery? Findings from this research can aid organizations and institutions preparing mental health service providers to focus training and preparation to address specific needs revealed by the study. Methods: Researchers decided to compare three distinctly different countries at the top of the list of countries with the highest rate of mental illness, the USA, India and Brazil, situated on three different continents with different economies and lifestyles. Data were collected using archival research methodology, reviewing records and findings of international and national health and mental health studies to subtract and compare data and findings. Results: The findings indicated that India is the most depressed country in the world, followed by the USA (and China) with Brazil in Latin America with the greatest number of depressed individuals. By 2020 roughly 20% of India, acountry of over one billion citizens, will suffer from some form of mental illnees, yet there are less than 4,000 experts available. In the USA 164.8 million people were substance abusers and an estimate of 47.6 million adults, 18 or older, had any mental illness in 2018. That means that about one in five adults in the USA experiences some form of mental illness each year, but only 41% of those affected received mental health care or services in the past year. Brazil has the greatest number of depressed individuals, in Latin America. Adults living in Sao Paulo megacity has prevalence of mental disorders at greater levels than similar surveys conducted in other areas of the world with more than one million adults with serious impairment levels. Discussion: The results show that, despite the vast socioeconomic differences between the three countries, there are correlations regarding mental health prevalence and difficulty to provide adequate services including a lack of awareness of how serious mental illness is, stigma for seeking mental illness, with comorbidity a common phenomenon, and a lack of partnership between different levels of service providers, which weakens mental health service delivery. The findings also indicate that mental health training institutions have a monumental task to prepare personnel to address the future mental health needs in each of the countries compared, which will constitute the next phase of the research.Keywords: mental health epidemiology, mental health disorder, mental health prevalence, mental health treatment
Procedia PDF Downloads 10587 Antimicrobial Value of Olax subscorpioidea and Bridelia ferruginea on Micro-Organism Isolates of Dental Infection
Authors: I. C. Orabueze, A. A. Amudalat, S. A. Adesegun, A. A. Usman
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Dental and associated oral diseases are increasingly affecting a considerable portion of the population and are considered some of the major causes of tooth loss, discomfort, mouth odor and loss of confidence. This study focused on the ethnobotanical survey of medicinal plants used in oral therapy and evaluation of the antimicrobial activities of methanolic extracts of two selected plants from the survey for their efficacy against dental microorganisms. The ethnobotanical survey was carried out in six herbal markets in Lagos State, Nigeria by oral interviewing and information obtained from an old family manually complied herbal medication book. Methanolic extracts of Olax subscorpioidea (stem bark) and Bridelia ferruginea (stem bark) were assayed for their antimicrobial activities against clinical oral isolates (Aspergillus fumigatus, Candida albicans, Streptococcus spp, Staphylococcus aureus, Lactobacillus acidophilus and Pseudomonas aeruginosa). In vitro microbial technique (agar well diffusion method and minimum inhibitory concentration (MIC) assay) were employed for the assay. Chlorhexidine gluconate was used as the reference drug for comparison with the extract results. And the preliminary phytochemical screening of the constituents of the plants were done. The ethnobotanical survey produced plants (28) of diverse family. Different parts of plants (seed, fruit, leaf, root, bark) were mentioned but 60% mentioned were either the stem or the bark. O. subscorpioidea showed considerable antifungal activity with zone of inhibition ranging from 2.650 – 2.000 cm against Aspergillus fumigatus but no such encouraging inhibitory activity was observed in the other assayed organisms. B. ferruginea showed antibacterial sensitivity against Streptococcus spp, Staphylococcus aureus, Lactobacillus acidophilus and Pseudomonas aeruginosa with zone of inhibitions ranging from 3.400 - 2.500, 2.250 - 1.600, 2.700 - 1.950, 2.225 – 1.525 cm respectively. The minimum inhibitory concentration of O. subscorpioidea against Aspergillus fumigatus was 51.2 mg ml-1 while that of B. ferruginea against Streptococcus spp was 0.1mg ml-1 and for Staphylococcus aureus, Lactobacillus acidophilus and Pseudomonas aeruginosa were 25.6 mg ml-1. A phytochemical analysis reveals the presence of alkaloids, saponins, cardiac glycoside, tannins, phenols and terpenoids in both plants, with steroids only in B. ferruginea. No toxicity was observed among mice given the two methanolic extracts (1000 mg Kg-1) after 21 days. The barks of both plants exhibited antimicrobial properties against periodontal diseases causing organisms assayed, thus up-holding their folkloric use in oral disorder management. Further research could be done viewing these extracts as combination therapy, checking for possible synergistic value in toothpaste and oral rinse formulations for reducing oral bacterial flora and fungi load.Keywords: antimicrobial activities, Bridelia ferruginea, dental disinfection, methanolic extract, Olax subscorpioidea, ethnobotanical survey
Procedia PDF Downloads 23986 Relationship Demise After Having Children: An Analysis of Abandonment and Nuclear Family Structure vs. Supportive Community Cultures
Authors: John W. Travis
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There is an epidemic of couples separating after a child is born into a family, generally with the father leaving emotionally or physically in the first few years after birth. This separation creates high levels of stress for both parents, especially the primary parent, leaving her (or him) less available to the infant for healthy attachment and nurturing. The deterioration of the couple’s bond leaves parents increasingly under-resourced, and the dependent child in a compromised environment, with an increased likelihood of developing an attachment disorder. Objectives: To understand the dynamics of a couple, once the additional and extensive demands of a newborn are added to a nuclear family structure, and to identify effective ways to support all members of the family to thrive. Qualitative studies interviewed men, women, and couples after pregnancy and the early years as a family, regarding key destructive factors, as well as effective tools for the couple to retain a strong bond. In-depth analysis of a few cases, including the author’s own experience, reveal deeper insights about subtle factors, replicated in wider studies. Using a self-assessment survey, many fathers report feeling abandoned, due to the close bond of the mother-baby unit, and in turn, withdrawing themselves, leaving the mother without support and closeness to resource her for the baby. Fathers report various types of abandonment, from his partner to his mother, with whom he did not experience adequate connection as a child. The study identified a key destructive factor to be unrecognized wounding from childhood that was carried into the relationship. The study culminated in the naming of Male Postpartum Abandonment Syndrome (MPAS), describing the epidemic in industrialized cultures with the nuclear family as the primary configuration. A growing family system often collapses without a minimum number of adult caregivers per infant, approximately four per infant (3.87), which allows for proper healing and caretaking. In cases with no additional family or community beyond one or two parents, the layers of abandonment and trauma result in the deterioration of a couple’s relationship and ultimately the family structure. The solution includes engaging community in support of new families. The study identified (and recommends) specific resources to assist couples in recognizing and healing trauma and disconnection at multiple levels. Recommendations include wider awareness and availability of resources for healing childhood wounds and greater community-building efforts to support couples for the whole family to thrive.Keywords: abandonment, attachment, community building, family and marital functioning, healing childhood wounds, infant wellness, intimacy, marital satisfaction, relationship quality, relationship satisfaction
Procedia PDF Downloads 22285 Gender Differences in the Impact and Subjective Interpretation of Childhood Sexual Abuse Survivors
Authors: T. Borja-Alvarez, V. Jiménez-Borja, M. Jiménez Borja, C. J. Jiménez-Mosquera
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Research on child sexual abuse has predominantly focused on female survivors. This has resulted in less research looking at the particular context in which this abuse takes place for boys and the impact this abuse may have on male survivors. The aim of this study is to examine the sex and age of the perpetrators of child sexual abuse and explore gender differences in the impact along with the subjective interpretation that survivors attribute to these experiences. The data for this study was obtained from Ecuadorian university students (M = 230, F = 293) who reported sexual abuse using the ISPCAN Child Abuse Screening Tool Retrospective version (ICAST-R). Participants completed Horowitz's Impact of Event Scale (IES) and were also requested to choose among neutral, positive, and negative adjectives to describe these experiences. The results indicate that in the case of males, perpetrators were both males (adults =27%, peers =20%, relatives =10.3%, cousins =7.4%) and young females (girlfriends or ex-girlfriends =25.6%, neighborhood =20.7%, school =16.7%, cousins =15.3%, strangers =12.8%). In contrast, almost all females reported that adult males were the perpetrators (relatives =29.6%, neighborhood =11.9%, strangers =19.9%, family friends =9.7%). Regarding the impact of these events, significant gender differences emerged. More females (50%) than males (20%) presented symptoms of post-traumatic stress disorder (PTSD). Gender differences also surfaced in the way survivors interpret their experiences. Almost half of the male participants selected the word “consensual” followed by the words “normal”, “helped me to mature”, “shameful”, “confusing”, and “traumatic”. In contrast, almost all females chose the word “non-consensual” followed by the words “shameful”, “traumatic”, “scary”, and “confusing”. In conclusion, the findings of this study suggest that young females and adult males were the most common perpetrators of sexually abused boys whereas adult males were the most common perpetrators of sexually abused girls. The impact and the subjective interpretation of these experiences were more negative for girls than for boys. The factors that account for the gender differences in the impact and the interpretation of these experiences need further exploration. It is likely that the cultural expectations of sexual behaviors for boys and girls in Latin American societies may partially explain the differential impact in the way these childhood sexual abuse experiences are interpreted in adulthood. In Ecuador, as is the case in other Latin American countries, the machismo culture not only accepts but encourages early sexual behaviors in boys and negatively judges premature sexual behavior in females. The result of these different sexual expectations may be that sexually abused boys may re-define these experiences as “consensual” and “normal” in adulthood, even though these were not consensual at the time of occurrence. Future studies are needed to more deeply understand the different contexts of sexual abuse for boys and girls in order to analyze the long-term impact of these experiences.Keywords: abuse, child, gender differences, sexual
Procedia PDF Downloads 9384 Stress, Anxiety and Its Associated Factors Within the Transgender Population of Delhi: A Cross-Sectional Study
Authors: Annie Singh, Ishaan Singh
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Background: Transgenders are people who have a gender identity different from their sex assigned at birth. Their gender behaviour doesn’t match their body anatomy. The community faces discrimination due to their gender identity all across the world. The term transgender is an umbrella term for many people non-conformal to their biological identity; note that the term transgender is different from gender dysphoria, which is a DSM-5 disorder defined as problems faced by an individual due to their non-conforming gender identity. Transgender people have been a part of Indian culture for ages yet have continued to face exclusion and discrimination in society. This has led to the low socio-economic status of the community. Various studies done across the world have established the role of discrimination, harassment and exclusion in the development of psychological disorders. The study is aimed to assess the frequency of stress and anxiety in the transgender population and understand the various factors affecting the same. Methodology: A cross-sectional survey of self consenting transgender individuals above the age of 18 residing in Delhi was done to assess their socioeconomic status and experiential ecology. Recruitment of participants was done with the help of NGOs. The survey was constructed GAD-7 and PSS-10, two well-known scales were used to assess the stress and anxiety levels. Medians, means and ranges are used for reporting continuous data wherever required, while frequencies and percentages are used for categorical data. For associations and comparison between groups in categorical data, the Chi-square test was used, while the Kruskal-Wallis H test was employed for associations involving multiple ordinal groups. SPSS v28.0 was used to perform the statistical analysis for this study. Results: The survey showed that the frequency of stress and anxiety is high in the transgender population. A demographic survey indicates a low socio-economic background. 44% of participants reported facing discrimination on a daily basis; the frequency of discrimination is higher in transwomen than in transmen. Stress and anxiety levels are similar among both transmen and transwomen. Only 34.5% of participants said they had receptive family or friends. The majority of participants (72.7%) reported a positive or neutral experience with healthcare workers. The prevalence of discrimination is significantly lower in the higher educated groups. Analysis of data shows a positive impact of acceptance and reception on mental health, while discrimination is correlated with higher levels of stress and anxiety. Conclusion: The prevalence of widespread transphobia and discrimination faced by the transgender community has culminated in high levels of stress and anxiety in the transgender population and shows variance according to multiple socio-demographic factors. Educating people about the LGBT community formation of support groups, policies and laws are required to establish trust and promote integration.Keywords: transgender, gender, stress, anxiety, mental health, discrimination, exclusion
Procedia PDF Downloads 10783 Agent-Based Modeling Investigating Self-Organization in Open, Non-equilibrium Thermodynamic Systems
Authors: Georgi Y. Georgiev, Matthew Brouillet
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This research applies the power of agent-based modeling to a pivotal question at the intersection of biology, computer science, physics, and complex systems theory about the self-organization processes in open, complex, non-equilibrium thermodynamic systems. Central to this investigation is the principle of Maximum Entropy Production (MEP). This principle suggests that such systems evolve toward states that optimize entropy production, leading to the formation of structured environments. It is hypothesized that guided by the least action principle, open thermodynamic systems identify and follow the shortest paths to transmit energy and matter, resulting in maximal entropy production, internal structure formation, and a decrease in internal entropy. Concurrently, it is predicted that there will be an increase in system information as more information is required to describe the developing structure. To test this, an agent-based model is developed simulating an ant colony's formation of a path between a food source and its nest. Utilizing the Netlogo software for modeling and Python for data analysis and visualization, self-organization is quantified by calculating the decrease in system entropy based on the potential states and distribution of the ants within the simulated environment. External entropy production is also evaluated for information increase and efficiency improvements in the system's action. Simulations demonstrated that the system begins at maximal entropy, which decreases as the ants form paths over time. A range of system behaviors contingent upon the number of ants are observed. Notably, no path formation occurred with fewer than five ants, whereas clear paths were established by 200 ants, and saturation of path formation and entropy state was reached at populations exceeding 1000 ants. This analytical approach identified the inflection point marking the transition from disorder to order and computed the slope at this point. Combined with extrapolation to the final path entropy, these parameters yield important insights into the eventual entropy state of the system and the timeframe for its establishment, enabling the estimation of the self-organization rate. This study provides a novel perspective on the exploration of self-organization in thermodynamic systems, establishing a correlation between internal entropy decrease rate and external entropy production rate. Moreover, it presents a flexible framework for assessing the impact of external factors like changes in world size, path obstacles, and friction. Overall, this research offers a robust, replicable model for studying self-organization processes in any open thermodynamic system. As such, it provides a foundation for further in-depth exploration of the complex behaviors of these systems and contributes to the development of more efficient self-organizing systems across various scientific fields.Keywords: complexity, self-organization, agent based modelling, efficiency
Procedia PDF Downloads 6082 Anxiety Treatment: Comparing Outcomes by Different Types of Providers
Authors: Melissa K. Hord, Stephen P. Whiteside
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With lifetime prevalence rates ranging from 6% to 15%, anxiety disorders are among the most common childhood mental health diagnoses. Anxiety disorders diagnosed in childhood generally show an unremitting course, lead to additional psychopathology and interfere with social, emotional, and academic development. Effective evidence-based treatments include cognitive-behavioral therapy (CBT) and selective serotonin reuptake inhibitors (SSRI’s). However, if anxious children receive any treatment, it is usually through primary care, typically consists of medication, and very rarely includes evidence-based psychotherapy. Despite the high prevalence of anxiety disorders, there have only been two independent research labs that have investigated long-term results for CBT treatment for all childhood anxiety disorders and two for specific anxiety disorders. Generally, the studies indicate that the majority of youth maintain gains up to 7.4 years after treatment. These studies have not been replicated. In addition, little is known about the additional mental health care received by these patients in the intervening years after anxiety treatment, which seems likely to influence maintenance of gains for anxiety symptoms as well as the development of additional psychopathology during the subsequent years. The original sample consisted of 335 children ages 7 to 17 years (mean 13.09, 53% female) diagnosed with an anxiety disorder in 2010. Medical record review included provider billing records for mental health appointments during the five years after anxiety treatment. The subsample for this study was classified into three groups: 64 children who received CBT in an anxiety disorders clinic, 56 who received treatment from a psychiatrist, and 10 who were seen in a primary care setting. Chi-square analyses resulted in significant differences in mental health care utilization across the five years after treatment. Youth receiving treatment in primary care averaged less than one appointment each year and the appointments continued at the same rate across time. Children treated by a psychiatrist averaged approximately 3 appointments in the first two years and 2 in the subsequent three years. Importantly, youth treated in the anxiety clinic demonstrated a gradual decrease in mental health appointments across time. The nuanced differences will be presented in greater detail. The results of the current study have important implications for developing dissemination materials to help guide parents when they are selecting treatment for their children. By including all mental health appointments, this study recognizes that anxiety is often comorbid with additional diagnoses and that receiving evidence-based treatment may have long-term benefits that are associated with improvements in broader mental health. One important caveat might be that the acuity of mental health influenced the level of care sought by patients included in this study; however, taking this possibility into account, it seems those seeking care in a primary care setting continued to require similar care at the end of the study, indicating little improvement in symptoms was experienced.Keywords: anxiety, children, mental health, outcomes
Procedia PDF Downloads 26381 Functional Analysis of Variants Implicated in Hearing Loss in a Cohort from Argentina: From Molecular Diagnosis to Pre-Clinical Research
Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón
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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish
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