Search results for: psychiatric disorder
848 Re-Examining the Distinction between Odour Nuisance and Health Impact: A Community’s Campaign against Landfill Gas Exposure in Shongweni, South Africa
Authors: Colin David La Grange, Lisa Frost Ramsay
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Hydrogen sulphide (H2S) is a minor component of landfill gas, but significant in its distinct odorous quality and its association with landfill-related community complaints. The World Health Organisation (WHO) provides two guidelines for H2S: a health guideline at 150 µg/m3 on a 24-hour average, and a nuisance guideline at 7 µg/m3 on a 30-minute average. Albeit a practical distinction for impact assessment, this paper highlights the danger of the apparent dualism between nuisance and health impact, particularly when it is used to dismiss community concerns of perceived health impacts at low concentrations of H2S, as in the case of a community battle against the impacts of a landfill in Shongweni, KwaZulu-Natal, South Africa. Here community members reported, using a community developed mobile phone application, a range of health symptoms that coincided with, or occurred subsequent to, odour events and localised H2S peaks. Local doctors also documented increased visits for symptoms of respiratory distress, eye and skin irritation, and stress after such odour events. Objectively measured H2S and other pollutant concentrations during these events, however, remained below WHO health guidelines. This case study highlights the importance of the physiological link between the experience of environmental nuisance and overall health and wellbeing, showing these to be less distinct than the WHO guidelines would suggest. The potential mechanisms of impact of an odorous plume, with key constituents at concentrations below traditional health thresholds, on psychologically and/or physiologically sensitised individuals are described. In the case of psychological sensitisation, previously documented mechanisms such as aversive conditioning and odour-triggered panic are relevant. Physiological sensitisation to environmental pollutants, evident as a seemingly disproportionate physical (allergy-type) response to either low concentrations or a short duration exposure of a toxin or toxins, remains extensively examined but still not well understood. The links between a heightened sensitivity to toxic compounds, accumulation of some compounds in the body, and a pre-existing or associated immunological stress disorder are presented as a possible explanation.Keywords: immunological stress disorder, landfill odour, odour nuisance, odour sensitisation, toxin accumulation
Procedia PDF Downloads 120847 The Role of Parents in Special Education in the Maldives: Teachers' Voice
Authors: Fathimath Warda, Mariyam Nihaadh
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Students with Special Education Needs (SEN) are increasing in the Maldives, like anywhere else in the world, due to the changes in lifestyle of the people and ease of being diagnosed with advancements in medical health. With the growth in the population of these students, the demand for professionals in various fields is unmet. Thus, with the introduction of the Inclusive Education Policy in 2013, all students are educated in the same classroom by the regular teacher. This poses problems as the teachers are not well trained and qualified to meet the varying needs of the students, given the limited time and the large number of students in the classroom. This is a major concern for all stakeholders in the education sector and research has been conducted by various local scholars in this area. However, studies on the role of parents of such students is an area that remains yet to be explored in the Maldives, which makes a study of this nature crucial. The main aim of this study is to determine the ways in which the education provided to Special Needs Students can be maximized for a better outcome. Therefore, the study intends to understand the involvement of parents in providing education to special needs students from the teachers' perspectives. The basis for this study is the Parent Development Theory developed by Mowder, which was initially known as Parent Role Development Theory. A qualitative research has thus been utilised for the purpose of the study as it requires to find the beliefs and attitudes of teachers, along with relevant justifications regarding the role of parents in educating students with special needs. Data was gathered using one-to-one interviews, as it is one of the most reliable ways of getting meaningful and in-depth data. The study employs a total of 8 participants who are teachers teaching in inclusive classes where students with special needs are included. Emphasis was paid to select teachers who have the experience of teaching students with different disorders commonly found in the Maldives, namely in the four areas, Autism Spectrum Disorder, Down Syndrome, Attention Deficit Hyperactive Disorder and speech impairment. Hence, purposive sampling will be used to select the participants. Data analysis has been done using thematic coding. The findings revealed that teachers highlighted that parents' involvement was a key factor in ensuring success of education in children with special needs. Thus, the study concludes that the role of parents as a necessary input for the proper development of children and in educating children with special needs, suggesting that extra measures have to be taken develop a positive relationship between teachers and parents in order to strengthen this aspect.Keywords: involvement, parents' role, special education needs, teachers' voice
Procedia PDF Downloads 137846 The Application of Sensory Integration Techniques in Science Teaching Students with Autism
Authors: Joanna Estkowska
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The Sensory Integration Method is aimed primarily at children with learning disabilities. It can also be used as a complementary method in treatment of children with cerebral palsy, autistic, mentally handicapped, blind and deaf. Autism is holistic development disorder that manifests itself in the specific functioning of a child. The most characteristic are: disorders in communication, difficulties in social relations, rigid patterns of behavior and impairment in sensory processing. In addition to these disorders may occur abnormal intellectual development, attention deficit disorders, perceptual disorders and others. This study was focused on the application sensory integration techniques in science education of autistic students. The lack of proper sensory integration causes problems with complicated processes such as motor coordination, movement planning, visual or auditory perception, speech, writing, reading or counting. Good functioning and cooperation of proprioceptive, tactile and vestibular sense affect the child’s mastery of skills that require coordination of both sides of the body and synchronization of the cerebral hemispheres. These include, for example, all sports activities, precise manual skills such writing, as well as, reading and counting skills. All this takes place in stages. Achieving skills from the first stage determines the development of fitness from the next level. Any deficit in the scope of the first three stages can affect the development of new skills. This ultimately reflects on the achievements at school and in further professional and personal life. After careful analysis symptoms from the emotional and social spheres appear to be secondary to deficits of sensory integration. During our research, the students gained knowledge and skills in the classroom of experience by learning biology, chemistry and physics with application sensory integration techniques. Sensory integration therapy aims to teach the child an adequate response to stimuli coming to him from both the outside world and the body. Thanks to properly selected exercises, a child can improve perception and interpretation skills, motor skills, coordination of movements, attention and concentration or self-awareness, as well as social and emotional functioning.Keywords: autism spectrum disorder, science education, sensory integration, special educational needs
Procedia PDF Downloads 184845 Adapting Depression and Anxiety Questionnaire for Children into Turkish: Reliability and Validity Studies
Authors: İsmail Seçer
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Although depression and anxiety disorders are considered to be adult disorders, the evidence obtained from several studies conducted recently shows that the roots of depression and anxiety disorders go back to childhood years. Thus, it is thought that analyzing depressive symptoms and anxiety disorders observed in the childhood is an important necessity. In the direction of the problem status of the study, the purpose of this study is to adapt anxiety and depression questionnaire for children into Turkish culture and analyze the psychometric characteristics of it on clinical and nonclinical samples separately. The study is a descriptive survey research. The study was conducted on two different sample groups, clinical and nonclinical. The clinical sample is formed of 205 individuals and the nonclinical sample is formed of 630 individuals. Through the study, anxiety and depression questionnaire for children, anxiety sensitivity index and obsessive compulsive disorder questionnaire for children were used. Experts’ opinions were asked to provide language validity of the scale. Confirmatory factor analysis and criterion-related validity to analyze construct validity and internal consistency and split-half reliability analyses were done for reliability. In the direction of experts’ opinions, construct validity of the scale was analyzed with simple confirmatory factor analysis and it was determined that the model fit of the two-factor structure of the scale gives good fit on both the clinical and nonclinical samples after determining that the language validity of the scale is provided. In criterion-related validity, it was determined that there are positive and significant relations between anxiety and depression questionnaire for children and anxiety sensitivity and obsessive compulsive disorder. The results of internal consistency and half-split reliability analyses also show that the scale has adequate reliability value. It can be said that depression and anxiety questionnaire for children which was adapted to determine depressive symptoms and anxiety disorders observed in childhood has adequate reliability and validity values and it can be used in future studies. It can be recommended that the psychometric characteristics of the scale can be analyzed and reported on new samples in the future studies.Keywords: scale adapting, construct validity, confirmatory factor analysis, childhood depression
Procedia PDF Downloads 334844 How Childhood Trauma Changes the Recovery Models
Authors: John Michael Weber
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The following research results spanned six months and 175 people addicted to some form of substance, from alcohol to heroin. One question was asked, and the answers were amazing and consistent. The following work is the detailed results of this writer’s answer to his own question and the 175 that followed. A constant pattern took shape throughout the bio-psycho-social assessments, these addicts had “first memories,” the memories were vivid and took place between the ages of three to six years old, to a person those first memories were traumatic. This writer’s personal search into his childhood was not to find an excuse for the way he became, but to explain the reason for becoming an addict. To treat addiction, these memories that have caused Post Traumatic Stress Disorder (PTSD), must be recognized as the catalyst that sparked a predisposition. Cognitive Behavioral Therapy (CBT), integrated with treatment specifically focused on PTSD, gives the addict a better chance at recovery sans relapse. This paper seeks to give the findings of first memories of the addicts assessed and provide the best treatment plan for such an addict, considering, the childhood trauma in congruence with treatment of the Substance Use Disorder (SUD). The question posed was concerning what their first life memory wa It is the hope of this author to take the knowledge that trauma is one of the main catalysts for addiction, will allow therapists to provide better treatment and reduce relapse from abstinence from drugs and alcohol. This research led this author to believe that if treatment of childhood trauma is not a priority, the twelve steps of Alcoholics Anonymous, specifically steps 4 and 5, will not be thoroughly addressed and odds for relapse increase. With this knowledge, parents can be educated on childhood trauma and the effect it has on their children. Parents could be mindful of the fact that the things they perceive as traumatic, do not match what a child, in the developmental years, absorbs as traumatic. It is this author’s belief that what has become the status quo in treatment facilities has not been working for a long time. It is for that reason this author believes things need to change. Relapse has been woven into the fabric of standard operating procedure and that, in this authors view, is not necessary. Childhood Trauma is not being addressed early in recovery and that creates an environment of inevitable relapse. This paper will explore how to break away from the status -quo and rethink the current “evidencebased treatments.” To begin breaking away from status-quo, this ends the Abstract, with hopes an interest has been peaked to read on.Keywords: childood, trauma, treatment, addiction, change
Procedia PDF Downloads 79843 Trajectories of PTSD from 2-3 Years to 5-6 Years among Asian Americans after the World Trade Center Attack
Authors: Winnie Kung, Xinhua Liu, Debbie Huang, Patricia Kim, Keon Kim, Xiaoran Wang, Lawrence Yang
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Considerable Asian Americans were exposed to the World Trade Center attack due to the proximity of the site to Chinatown and a sizeable number of South Asians working in the collapsed and damaged buildings nearby. Few studies focused on Asians in examining the disaster’s mental health impact, and even less longitudinal studies were reported beyond the first couple of years after the event. Based on the World Trade Center Health Registry, this study examined the trajectory of PTSD of individuals directly exposed to the attack from 2-3 to 5-6 years after the attack, comparing Asians against the non-Hispanic White group. Participants included 2,431 Asians and 31,455 Whites. Trajectories were delineated into the resilient, chronic, delayed-onset and remitted groups using PTSD checklist cut-off score at 44 at the 2 waves. Logistic regression analyses were conducted to compare the poorer trajectories against the resilient as a reference group, using predictors of baseline sociodemographic, exposure to the disaster, lower respiratory symptoms and previous depression/anxiety disorder diagnosis, and recruitment source as the control variable. Asians had significant lower socioeconomic status in terms of income, education and employment status compared to Whites. Over 3/4 of participants from both races were resilient, though slightly less for Asians than Whites (76.5% vs 79.8%). Asians had a higher proportion with chronic PTSD (8.6% vs 7.4%) and remission (5.9% vs 3.4%) than Whites. A considerable proportion of participants had delayed-onset in both races (9.1% Asians vs 9.4% Whites). The distribution of trajectories differed significantly by race (p<0.0001) with Asians faring poorer. For Asians, in the chronic vs resilient group, significant protective factors included age >65, annual household income >$50,000, and never married vs married/cohabiting; risk factors were direct disaster exposure, job loss due to 9/11, lost someone, and tangible loss; lower respiratory symptoms and previous mental disorder diagnoses. Similar protective and risk factors were noted for the delayed-onset group, except education being protective; and being an immigrant a risk. Between the 2 comparisons, the chronic group was more vulnerable than the delayed-onset as expected. It should also be noted that in both comparisons, Asians’ current employment status had no significant impact on their PTSD trajectory. Comparing between Asians against Whites, the direction of the relationships between the predictors and the PTSD trajectories were mostly the same, although more factors were significant for Whites than for Asians. A few factors showed significant racial difference: Higher risk for lower respiratory symptoms for Whites than Asians, higher risk for pre-9/11 mental disorder diagnosis for Asians than Whites, and immigrant a risk factor for the remitted vs resilient groups for Whites but not for Asians. Over 17% Asians still suffered from PTSD 5-6 years after the WTC attack signified its persistent impact which incurred substantial human, social and economic costs. The more disadvantaged socioeconomic status of Asians rendered them more vulnerable in their mental health trajectories relative to Whites. Together with their well-documented low tendency to seek mental health help, outreach effort to this population is needed to ensure follow-up treatment and prevention.Keywords: PTSD, Asian Americans, World Trade Center Attack, racial differences
Procedia PDF Downloads 264842 Cannabis for the Treatment of Drug Resistant Epilepsy in Children
Authors: Sarah E. Casey
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Epilepsy is the most common neurological disorder in children and approximately one-third of children with epilepsy have seizures that are uncontrolled on anticonvulsants alone. Cannabidiol is shown to be an effective treatment at reducing the amount of breakthrough seizures experienced by children with drug resistant epilepsy. Improvements in quality of life and overall condition were noted during cannabidiol treatment. Adverse side effects were experienced and were generally mild to moderate in nature. Additional double-blind, controlled studies with a more diverse sample population and standardized dosing are needed to ensure the efficacy and safety of cannabidiol use in children with drug resistant epilepsy.Keywords: cannabis, drug resistant epilepsy, children, epilepsy
Procedia PDF Downloads 223841 Over Expression of Mapk8ip3 Patient Variants in Zebrafish to Establish a Spectrum of Phenotypes in a Rare-Neurodevelopmental Disorder
Authors: Kinnsley Travis, Camerron M. Crowder
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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research
Procedia PDF Downloads 116840 Decision-Tree-Based Foot Disorders Classification Using Demographic Variable
Authors: Adel Khorramrouz, Monireh Ahmadi Bani, Ehsan Norouzi
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Background:-Due to the essential role of the foot in movement, foot disorders (FDs) have significant impacts on activity and quality of life. Many studies confirmed the association between FDs and demographic characteristics. On the other hand, recent advances in data collection and statistical analysis led to an increase in the volume of databases. Analysis of patient’s data through the decision tree can be used to explore the relationship between demographic characteristics and FDs. Significance of the study: This study aimed to investigate the relationship between demographic characteristics with common FDs. The second purpose is to better inform foot intervention, we classify FDs based on demographic variables. Methodologies: We analyzed 2323 subjects with pes-planus (PP), pes-cavus (PC), hallux-valgus (HV) and plantar-fasciitis (PF) who were referred to a foot therapy clinic between 2015 and 2021. Subjects had to fulfill the following inclusion criteria: (1) weight between 14 to 150 kilogram, (2) height between 30 to 220, (3) age between 3 to 100 years old, and (4) BMI between 12 to 35. Medical archives of 2323 subjects were recorded retrospectively and all the subjects examined by an experienced physician. Age and BMI were classified into five and four groups, respectively. 80% of the data were randomly selected as training data and 20% tested. We build a decision tree model to classify FDs using demographic characteristics. Findings: Results demonstrated 981 subjects from 2323 (41.9%) of people who were referred to the clinic with FDs were diagnosed as PP, 657 (28.2%) PC, 628 (27%) HV and 213 (9%) identified with PF. The results revealed that the prevalence of PP decreased in people over 18 years of age and in children over 7 years. In adults, the prevalence depends first on BMI and then on gender. About 10% of adults and 81% of children with low BMI have PP. There is no relationship between gender and PP. PC is more dependent on age and gender. In children under 7 years, the prevalence was twice in girls (10%) than boys (5%) and in adults over 18 years slightly higher in men (62% vs 57%). HV increased with age in women and decreased in men. Aging and obesity have increased the prevalence of PF. We conclude that the accuracy of our approach is sufficient for most research applications in FDs. Conclusion:-The increased prevalence of PP in children is probably due to the formation of the arch of the foot at this age. Increasing BMI by applying high pressure on the foot can increase the prevalence of this disorder in the foot. In PC, the Increasing prevalence of PC from women to men with age may be due to genetics and innate susceptibility of men to this disorder. HV is more common in adult women, which may be due to environmental reasons such as shoes, and the prevalence of PF in obese adult women may also be due to higher foot pressure and housekeeping activities.Keywords: decision tree, demographic characteristics, foot disorders, machine learning
Procedia PDF Downloads 262839 Virtual Academy Next: Addressing Transition Challenges Through a Gamified Virtual Transition Program for Students with Disabilities
Authors: Jennifer Gallup, Joel Bocanegra, Greg Callan, Abigail Vaughn
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Students with disabilities (SWD) engaged in a distance summer program delivered over multiple virtual mediums that used gaming principles to teach and practice self-regulated learning (SRL) through the process of exploring possible jobs. Gaming quests were developed to explore jobs and teach transition skills. Students completed specially designed quests that taught and reinforced SRL and problem-solving through individual, group, and teacher-led experiences. SRL skills learned were reinforced through guided job explorations over the context of MinecraftEDU, zoom with experts in the career, collaborations with a team over Marco Polo, and Zoom. The quests were developed and laid out on an accessible web page, with active learning opportunities and feedback conducted within multiple virtual mediums including MinecraftEDU. Gaming mediums actively engage players in role-playing, problem-solving, critical thinking, and collaboration. Gaming has been used as a medium for education since the inception of formal education. Games, and specifically board games, are pre-historic, meaning we had board games before we had written language. Today, games are widely used in education, often as a reinforcer for behavior or for rewards for work completion. Games are not often used as a direct method of instruction and assessment; however, the inclusion of games as an assessment tool and as a form of instruction increases student engagement and participation. Games naturally include collaboration, problem-solving, and communication. Therefore, our summer program was developed using gaming principles and MinecraftEDU. This manuscript describes a virtual learning summer program called Virtual Academy New and Exciting Transitions (VAN) that was redesigned from a face-to-face setting to a completely online setting with a focus on SWD aged 14-21. The focus of VAN was to address transition planning needs such as problem-solving skills, self-regulation, interviewing, job exploration, and communication for transition-aged youth diagnosed with various disabilities (e.g., learning disabilities, attention-deficit hyperactivity disorder, intellectual disability, down syndrome, autism spectrum disorder).Keywords: autism, disabilities, transition, summer program, gaming, simulations
Procedia PDF Downloads 75838 Study on the Post-Traumatic Stress Disorder and Its Psycho-Social-Genetic Risk Factors among Tibetan Alolescents in Heavily-Hit Area Three Years after Yushu Earthquake in Qinghai Province, China
Authors: Xiaolian Jiang, Dongling Liu, Kun Liu
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Aims: To examine the prevalence of POST-TRAUMATIC STRESS DISORDER (PTSD) symptoms among Tibetan adolescents in heavily-hit disaster area three years after Yushu earthquake, and to explore the interactions of the psycho-social-genetic risk factors. Methods: This was a three-stage study. Firstly, demographic variables,PTSD Checklist-Civilian Version (PCL-C),the Internality、Powerful other、Chance Scale,(IPC),Coping Style Scale(CSS),and the Social Support Appraisal(SSA)were used to explore the psychosocial factors of PTSD symptoms among adolescent survivors. PCL-C was used to examine the PTSD symptoms among 4072 Tibetan adolescents,and the Structured Clinical Interview for DSM-IV Disorders(SCID)was used by psychiatrists to make the diagnosis precisely. Secondly,a case-control trial was used to explore the relationship between PTSD and gene polymorphisms. 287adolescents diagnosed with PTSD were recruited in study group, and 280 adolescents without PTSD in control group. Polymerase chain reaction-restriction fragment length polymorphism technology(PCR-RFLP)was used to test gene polymorphisms. Thirdly,SPSS 22.0 was used to explore the interactions of the psycho-social-genetic risk factors of PTSD on the basis of the above results. Results and conclusions: 1.The prevalence of PTSD was 9.70%. 2.The predictive psychosocial factors of PTSD included earthquake exposure, support from others, imagine, abreact, tolerant, powerful others and family support. 3.Synergistic interactions between A1 gene of DRD2 TaqIA and the external locus of control, negative coping style, severe earthquake exposure were found. Antagonism interactions between A1 gene of DRD2 TaqIA and poor social support was found. Synergistic interactions between A1/A1 genotype and the external locus of control, negative coping style were found. Synergistic interactions between 12 gene of 5-HTTVNTR and the external locus of control, negative coping style, severe earthquake exposure were found. Synergistic interactions between 12/12 genotype and the external locus of control, negative coping style, severe earthquake exposure were also found.Keywords: adolescents, earthquake, PTSD, risk factors
Procedia PDF Downloads 152837 Screening for Non-hallucinogenic Neuroplastogens as Drug Candidates for the Treatment of Anxiety, Depression, and Posttraumatic Stress Disorder
Authors: Jillian M. Hagel, Joseph E. Tucker, Peter J. Facchini
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With the aim of establishing a holistic approach for the treatment of central nervous system (CNS) disorders, we are pursuing a drug development program rapidly progressing through discovery and characterization phases. The drug candidates identified in this program are referred to as neuroplastogens owing to their ability to mediate neuroplasticity, which can be beneficial to patients suffering from anxiety, depression, or posttraumatic stress disorder. These and other related neuropsychiatric conditions are associated with the onset of neuronal atrophy, which is defined as a reduction in the number and/or productivity of neurons. The stimulation of neuroplasticity results in an increase in the connectivity between neurons and promotes the restoration of healthy brain function. We have synthesized a substantial catalogue of proprietary indolethylamine derivatives based on the general structures of serotonin (5-hydroxytryptamine) and psychedelic molecules such as N,N-dimethyltryptamine (DMT) and psilocin (4-hydroxy-DMT) that function as neuroplastogens. A primary objective in our screening protocol is the identification of derivatives associated with a significant reduction in hallucination, which will allow administration of the drug at a dose that induces neuroplasticity and triggers other efficacious outcomes in the treatment of targeted CNS disorders but which does not cause a psychedelic response in the patient. Both neuroplasticity and hallucination are associated with engagement of the 5HT2A receptor, requiring drug candidates differentially coupled to these two outcomes at a molecular level. We use novel and proprietary artificial intelligence algorithms to predict the mode of binding to the 5HT2A receptor, which has been shown to correlate with the hallucinogenic response. Hallucination is tested using the mouse head-twitch response model, whereas mouse marble-burying and sucrose preference assays are used to evaluate anxiolytic and anti-depressive potential. Neuroplasticity is assays using dendritic outgrowth assays and cell-based ELISA analysis. Pharmacokinetics and additional receptor-binding analyses also contribute the selection of lead candidates. A summary of the program is presented.Keywords: neuroplastogen, non-hallucinogenic, drug development, anxiety, depression, PTSD, indolethylamine derivatives, psychedelic-inspired, 5-HT2A receptor, computational chemistry, head-twitch response behavioural model, neurite outgrowth assay
Procedia PDF Downloads 138836 EGF Serum Level in Diagnosis and Prediction of Mood Disorder in Adolescents and Young Adults
Authors: Monika Dmitrzak-Weglarz, Aleksandra Rajewska-Rager, Maria Skibinska, Natalia Lepczynska, Piotr Sibilski, Joanna Pawlak, Pawel Kapelski, Joanna Hauser
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Epidermal growth factor (EGF) is a well-known neurotrophic factor that involves in neuronal growth and synaptic plasticity. The proteomic research provided in order to identify novel candidate biological markers for mood disorders focused on elevated EGF serum level in patients during depression episode. However, the EGF association with mood disorder spectrum among adolescents and young adults has not been studied extensively. In this study, we aim to investigate the serum levels of EGF in adolescents and young adults during hypo/manic, depressive episodes and in remission compared to healthy control group. In our study, we involved 80 patients aged 12-24 years in 2-year follow-up study with a primary diagnosis of mood disorder spectrum, and 35 healthy volunteers matched by age and gender. Diagnoses were established according to DSM-IV-TR criteria using structured clinical interviews: K-SADS for child and adolescents, and SCID for young adults. Clinical and biological evaluations were made at baseline and euthymic mood (at 3th or 6th month of treatment and after 1 and 2 years). The Young Mania Rating Scale and Hamilton Rating Scale for Depression were used for assessment. The study protocols were approved by the relevant ethics committee. Serum protein concentration was determined by Enzyme-Linked Immunosorbent Assays (ELISA) method. Human EGF (cat. no DY 236) DuoSet ELISA kit was used (R&D Systems). Serum EGF levels were analysed with following variables: age, age under 18 and above 18 years old, sex, family history of affective disorders, drug-free vs. medicated. Shapiro-Wilk test was used to test the normality of the data. The homogeneity of variance was calculated with Levene’s test. EGF levels showed non-normal distribution and the homogeneity of variance was violated. Non-parametric tests: Mann-Whitney U test, Kruskall-Wallis ANOVA, Friedman’s ANOVA, Wilcoxon signed rank test, Spearman correlation coefficient was applied in the analyses The statistical significance level was set at p<0.05. Elevated EGF level at baseline (p=0.001) and at month 24 (p=0.02) was detected in study subjects compared with controls. Increased EGF level in women at month 12 (p=0.02) compared to men in study group have been observed. Using Wilcoxon signed rank test differences in EGF levels were detected: decrease from baseline to month 3 (p=0.014) and increase comparing: month 3 vs. 24 (p=0.013); month 6 vs. 12 (p=0.021) and vs. 24 (p=0.008). EGF level at baseline was negatively correlated with depression and mania occurrence at 24 months. EGF level at 24 months was positively correlated with depression and mania occurrence at 12 months. No other correlations of EGF levels with clinical and demographical variables have been detected. The findings of the present study indicate that EGF serum level is significantly elevated in the study group of patients compared to the controls. We also observed fluctuations in EGF levels during two years of disease observation. EGF seems to be useful as an early marker for prediction of diagnosis, course of illness and treatment response in young patients during first episode od mood disorders, which requires further investigation. Grant was founded by National Science Center in Poland no 2011/03/D/NZ5/06146.Keywords: biological marker, epidermal growth factor, mood disorders, prediction
Procedia PDF Downloads 189835 Schizophrenia in Childhood and Adolescence: Research Topics and Applied Methodology
Authors: Jhonas Geraldo Peixoto Flauzino, Pedro Pompeo Boechat Araujo, Alexia Allis Rocha Lima, Giovanna Biângulo Lacerda Chaves, Victor Ryan Ferrão Chaves
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Schizophrenia is characterized as a set of psychiatric signs and symptoms (syndrome) that commonly erupt in the stages of adolescence or early adulthood, being recognized as one of the most serious diseases, as it causes important problems during the life of the patient. carrier - both in mental health and in physical health and in social life. Objectives: This is an integrative literature review that aimed to verify what has been produced of scientific knowledge in the field of child and adolescent psychiatry regarding schizophrenia in these stages of life, correlated to the most discussed themes and methodologies of choice for the preparation of studies. Methods: Articles were selected from the following databases: Virtual Health Library and CAPES Journal Portal, published in the last five years; and on Google Scholar, published in 2021, totaling 62 works, searched in September 2021. Results: The studies focus mainly on diagnosis through the DSM-V (25.8%), on drug treatment (25.8%) and in psychotherapy (24.2%), most of them in the literature review format: integrative (27.4%) and systematic (24.2%). Conclusion: The themes and study methods are redundant, and do not cover in depth the immense aspects that encompass Schizophrenia in Childhood and Adolescence, giving attention to the disease in a general way or focusing on the adult patient.Keywords: schizophrenia, mental health, childhood, adolescence
Procedia PDF Downloads 183834 Fuzzy Logic in Detecting Children with Behavioral Disorders
Authors: David G. Maxinez, Andrés Ferreyra Ramírez, Liliana Castillo Sánchez, Nancy Adán Mendoza, Carlos Aviles Cruz
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This research describes the use of fuzzy logic in detection, assessment, analysis and evaluation of children with behavioral disorders. It shows how to acquire and analyze ambiguous, vague and full of uncertainty data coming from the input variables to get an accurate assessment result for each of the typologies presented by children with behavior problems. Behavior disorders analyzed in this paper are: hyperactivity (H), attention deficit with hyperactivity (DAH), conduct disorder (TD) and attention deficit (AD).Keywords: alteration, behavior, centroid, detection, disorders, economic, fuzzy logic, hyperactivity, impulsivity, social
Procedia PDF Downloads 563833 Information Pollution: Exploratory Analysis of Subs-Saharan African Media’s Capabilities to Combat Misinformation and Disinformation
Authors: Muhammed Jamiu Mustapha, Jamiu Folarin, Stephen Obiri Agyei, Rasheed Ademola Adebiyi, Mutiu Iyanda Lasisi
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The role of information in societal development and growth cannot be over-emphasized. It has remained an age-long strategy to adopt the information flow to make an egalitarian society. The same has become a tool for throwing society into chaos and anarchy. It has been adopted as a weapon of war and a veritable instrument of psychological warfare with a variety of uses. That is why some scholars posit that information could be deployed as a weapon to wreak “Mass Destruction" or promote “Mass Development". When used as a tool for destruction, the effect on society is like an atomic bomb which when it is released, pollutes the air and suffocates the people. Technological advancement has further exposed the latent power of information and many societies seem to be overwhelmed by its negative effect. While information remains one of the bedrock of democracy, the information ecosystem across the world is currently facing a more difficult battle than ever before due to information pluralism and technological advancement. The more the agents involved try to combat its menace, the difficult and complex it is proving to be curbed. In a region like Africa with dangling democracy enfolds with complexities of multi-religion, multi-cultures, inter-tribes, ongoing issues that are yet to be resolved, it is important to pay critical attention to the case of information disorder and find appropriate ways to curb or mitigate its effects. The media, being the middleman in the distribution of information, needs to build capacities and capabilities to separate the whiff of misinformation and disinformation from the grains of truthful data. From quasi-statistical senses, it has been observed that the efforts aimed at fighting information pollution have not considered the built resilience of media organisations against this disorder. Apparently, the efforts, resources and technologies adopted for the conception, production and spread of information pollution are much more sophisticated than approaches to suppress and even reduce its effects on society. Thus, this study seeks to interrogate the phenomenon of information pollution and the capabilities of select media organisations in Sub-Saharan Africa. In doing this, the following questions are probed; what are the media actions to curb the menace of information pollution? Which of these actions are working and how effective are they? And which of the actions are not working and why they are not working? Adopting quantitative and qualitative approaches and anchored on the Dynamic Capability Theory, the study aims at digging up insights to further understand the complexities of information pollution, media capabilities and strategic resources for managing misinformation and disinformation in the region. The quantitative approach involves surveys and the use of questionnaires to get data from journalists on their understanding of misinformation/disinformation and their capabilities to gate-keep. Case Analysis of select media and content analysis of their strategic resources to manage misinformation and disinformation is adopted in the study while the qualitative approach will involve an In-depth Interview to have a more robust analysis is also considered. The study is critical in the fight against information pollution for a number of reasons. One, it is a novel attempt to document the level of media capabilities to fight the phenomenon of information disorder. Two, the study will enable the region to have a clear understanding of the capabilities of existing media organizations to combat misinformation and disinformation in the countries that make up the region. Recommendations emanating from the study could be used to initiate, intensify or review existing approaches to combat the menace of information pollution in the region.Keywords: disinformation, information pollution, misinformation, media capabilities, sub-Saharan Africa
Procedia PDF Downloads 161832 The Miller Umwelt Assessment Scale: A Tool for Planning Interventions for Children on the Autism Spectrum
Authors: Sonia Mastrangelo
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The Miller Umwelt Assessment Scale is a useful tool for obtaining information about the developmental capacities of children on the autism spectrum. The assessment, made up of 19 tasks in the areas of: body organization, contact with surroundings, expressive and receptive communication, representation, and social-emotional development, has been used with much success over the past 40 years. While many assessments are difficult to administer to children on the autism spectrum, the simplicity of the MUAS reveals key strengths and challenges for both low and high functioning children on the spectrum. The results guide parents and clinicians in providing a curriculum and/or home program that moves children up the developmental ladder.Keywords: autism spectrum disorder, assessment, reading intervention, Miller method
Procedia PDF Downloads 539831 A Controlled Mathematical Model for Population Dynamics in an Infested Honeybees Colonies
Authors: Chakib Jerry, Mounir Jerry
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In this paper, a mathematical model of infested honey bees colonies is formulated in order to investigate Colony Collapse Disorder in a honeybee colony. CCD, as it is known, is a major problem on honeybee farms because of the massive decline in colony numbers. We introduce to the model a control variable which represents forager protection. We study the controlled model to derive conditions under which the bee colony can fight off epidemic. Secondly we study the problem of minimizing prevention cost under model’s dynamics constraints.Keywords: honey bee, disease transmission model, disease control honeybees, optimal control
Procedia PDF Downloads 425830 Depressive Trends in Children and Adolescents Suffering from Beta-Thalassemia
Authors: Sanober Khanum, Barerah Siddiqui, Asim Qidwai
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Objective: To determine the risk factors and frequency of depressive trends in children and adolescents suffering from Beta-Thalassemia. Background: Thalassemia is a chronic disease affecting 10,000 people in 60 countries. Many studies show that prolonged medical conditions cause depression. Due to the invasive procedures and suffering, Beta-Thalassemia cause great psychological distress to both children and their caregivers. The study shows 14-24% prevalence of psychiatric problems in Thalassemic patients. Method: Sample consisted of 195 registered patients of A.M.T.F (Female=95 and Male=100). Based on age range the sample was divided into two groups, Group A = children (4-9 years) and Group B = adolescent (10-16 years). A detailed interview with a self-made screening measure was administered on parents to find out the level of depression in patients. Statistics: Chi-square and t-test was applied in order to analyze the data. Results show high prevalence of depression, depression n= 131(66.83%), no depression n=65(33.16%). Analyses reflect that age influences the level of depression Adolescent (71.05%) and Children (64.16%). The analysis also shows a difference in level of depression between both genders. (t=2.975, p < .05). Conclusion: There is a high possibility of developing depressive trend in children affected with Beta Thalassemia; especially females. Therefore, there is a dire need for psychological screening and appropriate treatment in order to improve physical; as well as mental health.Keywords: childhood depression, chronic illness, psychopathology, Thalassemia
Procedia PDF Downloads 329829 Impact of Hepatitis C Virus Chronic Infection on Quality of Life in Egypt
Authors: Ammal M. Metwally, Ghada A. Abdel-Latif, Walaa A. Fouad, Thanaa M. Rabah, Amira Mohsen, Fatma A. Shaaban, Iman I. Salama
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The study aimed at determining the impact of chronic hepatitis C virus (HCV) infection on patients’ Quality of Life (QoL) , its relation to geographical characteristics of patients, awareness of the disease, treatment regimen, co-morbid psychiatric or other diseases. 457 patients were randomly selected from ten National Treatment Reference Centers of Ministry of Health hospitals from four community locations representing Egypt. Health related QoL assessment questionnaire with the 36-item Short Form used for assessment of the enrolled patients. The study showed no significant difference between HCV patients in different governorates as regards total QoL. Females, illiterate patients and those had bilharziasis, diabetes mellitus, hypertension or were depressed had significantly the lowest QoL score. HCV patients who knew the danger of the disease had significant lower mean score of physical and mental health components. Optimal care of overall well-being of HCV patients requires adequate knowledge of their neurological and psychological status. It is important to know that any patient will need to take the time to know that his new physical limitations do not limit him as a person, as soul, no matter what other people are thinking as a positive hopeful attitude is essential for combating HCV. Procedia PDF Downloads 449828 EEG Diagnosis Based on Phase Space with Wavelet Transforms for Epilepsy Detection
Authors: Mohmmad A. Obeidat, Amjed Al Fahoum, Ayman M. Mansour
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The recognition of an abnormal activity of the brain functionality is a vital issue. To determine the type of the abnormal activity either a brain image or brain signal are usually considered. Imaging localizes the defect within the brain area and relates this area with somebody functionalities. However, some functions may be disturbed without affecting the brain as in epilepsy. In this case, imaging may not provide the symptoms of the problem. A cheaper yet efficient approach that can be utilized to detect abnormal activity is the measurement and analysis of the electroencephalogram (EEG) signals. The main goal of this work is to come up with a new method to facilitate the classification of the abnormal and disorder activities within the brain directly using EEG signal processing, which makes it possible to be applied in an on-line monitoring system.Keywords: EEG, wavelet, epilepsy, detection
Procedia PDF Downloads 538827 Depressant Effects of 2-PMPA through Reduction of p-CREB (Ser133) and mGluR5 Level in Prefrontal Cortex of C57BL/6 Mice
Authors: Sang-Sun Yoon, Yea-Hyun Leem, Sangmee Ahn Jo
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The N-acetylated-alpha-linked-acidic (NAAG) peptidase inhibitor 2-phosphonomethyl pentanedioic acid (2-PMPA) has demonstrated to be neuroprotective against glutamate-mediated neuron degeneration and neurological disorders such as ischemia. Several studies have demonstrated impaired psychiatric function by altered glutamate carboxypeptidase II expression, although 2-PMPA has not yet been studied. Thus, we investigated effect of 2-PMPA on depressive-like phenotype using C57BL/6 mice. Treatment of 2-PMPA (10 mg/kg for 6 days/daily, ip injection) on C57BL/6 naïve mice showed depressive-like symptoms such as decreased social preference, but did not affect the immobility measured by tail suspension test. Reduction of phosphorylated cAMP-responsive element binding (p-CREB) known as a representative marker of depressive-like behavior was observed in layer 1 and piriform cortex subregions of the prefrontal cortex of 2-PMPA-treated mice. The immunoreactivity of metabotropic glutamate receptors 5 (mGluR5) that mediate phosphorylation of CREB was also decreased in layer 1 and piriform cortex subregions of the prefrontal cortex of 2-PMPA injected mice. Thus, our results suggest that dysregulation of the GCPII or NAAG by 2-PMPA treatment is likely to be associated with pathogenesis of depression and further studies are needed to understand whether the reduced NAAG level or enhanced glutamate level in the brain is involved in this response.Keywords: depression, GCPII, 2-PMPA, p-CREB, mGluR5
Procedia PDF Downloads 266826 Step Method for Solving Nonlinear Two Delays Differential Equation in Parkinson’s Disease
Authors: H. N. Agiza, M. A. Sohaly, M. A. Elfouly
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Parkinson's disease (PD) is a heterogeneous disorder with common age of onset, symptoms, and progression levels. In this paper we will solve analytically the PD model as a non-linear delay differential equation using the steps method. The step method transforms a system of delay differential equations (DDEs) into systems of ordinary differential equations (ODEs). On some numerical examples, the analytical solution will be difficult. So we will approximate the analytical solution using Picard method and Taylor method to ODEs.Keywords: Parkinson's disease, step method, delay differential equation, two delays
Procedia PDF Downloads 205825 Internet-Delivered Cognitive Behaviour Therapy for Depression Comorbid with Diabetes: Preliminary Findings
Authors: Lisa Robins, Jill Newby, Kay Wilhelm, Therese Fletcher, Jessica Smith, Trevor Ma, Adam Finch, Lesley Campbell, Jerry Greenfield, Gavin Andrews
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Background:Depression treatment for people living with depression comorbid with diabetes is of critical importance for improving quality of life and diabetes self-management, however depression remains under-recognised and under-treated in this population. Cost—effective and accessible forms of depression treatment that can enhance the delivery of mental health services in routine diabetes care are needed. Provision of internet-delivered Cognitive Behaviour Therapy (iCBT) provides a promising way to deliver effective depression treatment to people with diabetes. Aims:To explore the outcomes of the clinician assisted iCBT program for people with comorbid Major Depressive Disorder (MDD) and diabetes compared to those who remain under usual care. The main hypotheses are that: (1) Participants in the treatment group would show a significant improvement on disorder specific measures (Patient Health Questionnaire; PHQ-9) relative to those in the control group; (2) Participants in the treatment group will show a decrease in diabetes-related distress relative to those in the control group. This study will also examine: (1) the effect of iCBT for MDD on disability (as measured by the SF-12 and SDS), general distress (as measured by the K10), (2) the feasibility of these treatments in terms of acceptability to diabetes patients and practicality for clinicians (as measured by the Credibility/Expectancy Questionnaire; CEQ). We hypothesise that associated disability, and general distress will reduce, and that patients with comorbid MDD and diabetes will rate the program as acceptable. Method:Recruit 100 people with MDD comorbid with diabetes (either Type 1 or Type 2), and randomly allocate to: iCBT (over 10 weeks) or treatment as usual (TAU) for 10 weeks, then iCBT. Measure pre- and post-intervention MDD severity, anxiety, diabetes-related distress, distress, disability, HbA1c, lifestyle, adherence, satisfaction with clinicians input and the treatment. Results:Preliminary results comparing MDD symptom levels, anxiety, diabetes-specific distress, distress, disability, HbA1c levels, and lifestyle factors from baseline to conclusion of treatment will be presented, as well as data on adherence to the lessons, homework downloads, satisfaction with the clinician's input and satisfaction with the mode of treatment generally.Keywords: cognitive behaviour therapy, depression, diabetes, internet
Procedia PDF Downloads 489824 Quality of Life of Women with Breast Cancer and Its Correlation with Depression and Anxiety
Authors: Maria Malliarou, Efrossini Lyraraki, Pavlos Sarafis, Theodosios Paralikas, Styliani Kotrotsiou, Evangelia Kotrotsiou, Mairy Gouva
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Women with breast cancer have to adapt to physical malformations, side effects of chemotherapy, emotional insecurity, and changes in social roles. Inability to recognize the co-morbidity of psychiatric conditions can have an aggravating effect on patient compliance in therapeutic interventions, resulting in treatment delays and an impact on overall survival. The purpose of this study was to identify the quality of life of breast cancer patients undergoing external radiation therapy and to correlate it with depression and anxiety. Patients were asked to respond to an anonymous questionnaire with general demographic and clinical questions, followed by the EORTCQLQ-C30 questionnaire for assessing the quality of life of patients with breast cancer. Hospital Anxiety and Depression Scale (HADS) as well as the Depression, Anxiety and Stress Scale (DASS-21) was also administered. The statistical analysis of the data was done in IBM SPSS. Results indicated that the incidence of anxiety and depression in breast cancer patients is high both in HADS (37.5 % with mild to moderate depression and 62.5 % with significant to severe depression) and DASS - 21 (39.2 % mild to moderate depression and 60.8 % significant to severe) scales. The correlation of anxiety and depression with life quality was negative for HADS (r = -, 810, p = .000) as well as for DASS-21 (r = -, 682, p = .000). The psychological impact of breast cancer on patients is important. Its correlation with the quality of life may lead to better tolerance to treatment and better effectiveness of the therapeutic approach.Keywords: anxiety, breast cancer, depression, quality of life
Procedia PDF Downloads 267823 The Arts in Medicine and Health: A Necessity for Evidence-Based Health Systems
Authors: Alan S. Weber
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This contribution reviews the current biomedical and qualitative arts research on arts-in-health interventions to improve both individual and population health outcomes. Arts therapies–for example, music therapy with roots in Aristoxenus’s Ἁρμονικὰ στοιχεῖα and the Pythagorean sect–have long been employed in therapeutic contexts. However, the 20th century witnessed the increasing use of the visual and plastic arts (drawing, painting, sculpting), performing arts (drama and dance), and other expressive arts modalities into occupational therapy, well-being medicine, and psychological and psychiatric counselling, diagnosis, and treatment. A significant body of peer-reviewed evidence in the medical and neurological sciences on the role of arts-in-health has developed, and specifically, research on music and art therapy has led to their inclusion within the current biomedical paradigm of evidence-based practice. The arts cannot only aid in public and population health promotion (promoting healthy behaviors and lifestyles, preventing disease onset) but also in addressing psychological issues (regulation of emotion; stress, anxiety, and depression reduction), behavioural issues (basic life skills, coping), and physiological response (immune system function, hormonal regulation, homeostatis). Working as a cross-disciplinary researcher in the arts in an American medical college, the author has developed several successful arts-in-health programs at the national and international level.Keywords: arts-in-health, evidence based medicine, arts for health, expressive arts therapies
Procedia PDF Downloads 70822 Disentangling Palliative Care and Euthanasia/Assisted Suicide in Dementia Care
Authors: Michael Joseph Passmore
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Euthanasia, or assisted suicide (EAS), refers to the provision of medical assistance to individuals seeking to end their own lives. In Canada, the issue of EAS has been the subject of debate and legislative action for many years. In 2016, the Canadian government passed the Medical Assistance in Dying (MAID) Act. This legalized EAS in Canada is subject to certain eligibility criteria. In 2023, debate in Canada continues regarding the scope of MAID practice and associated legislation. Dementia is an illness that causes suffering at the end of life. Persons suffering due to dementia deserve timely and effective palliative care.Keywords: palliative care, neurocognitive disorder, dementia, Alzheimer’s disease, euthanasia, assisted suicide, medical ethics, bioethics
Procedia PDF Downloads 92821 Neuromyelitis Optica area Postrema Syndrome(NMOSD-APS) in a Fifteen-year-old Girl: A Case Report
Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev
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Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI
Procedia PDF Downloads 39820 Geographic Legacies for Modern Day Disease Research: Autism Spectrum Disorder as a Case-Control Study
Authors: Rebecca Richards Steed, James Van Derslice, Ken Smith, Richard Medina, Amanda Bakian
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Elucidating gene-environment interactions for heritable disease outcomes is an emerging area of disease research, with genetic studies informing hypotheses for environment and gene interactions underlying some of the most confounding diseases of our time, like autism spectrum disorder (ASD). Geography has thus far played a key role in identifying environmental factors contributing to disease, but its use can be broadened to include genetic and environmental factors that have a synergistic effect on disease. Through the use of family pedigrees and disease outcomes with life-course residential histories, space-time clustering of generations at critical developmental windows can provide further understanding of (1) environmental factors that contribute to disease patterns in families, (2) susceptible critical windows of development most impacted by environment, (3) and that are most likely to lead to an ASD diagnosis. This paper introduces a retrospective case-control study that utilizes pedigree data, health data, and residential life-course location points to find space-time clustering of ancestors with a grandchild/child with a clinical diagnosis of ASD. Finding space-time clusters of ancestors at critical developmental windows serves as a proxy for shared environmental exposures. The authors refer to geographic life-course exposures as geographic legacies. Identifying space-time clusters of ancestors creates a bridge for researching exposures of past generations that may impact modern-day progeny health. Results from the space-time cluster analysis show multiple clusters for the maternal and paternal pedigrees. The paternal grandparent pedigree resulted in the most space-time clustering for birth and childhood developmental windows. No statistically significant clustering was found for adolescent years. These results will be further studied to identify the specific share of space-time environmental exposures. In conclusion, this study has found significant space-time clusters of parents, and grandparents for both maternal and paternal lineage. These results will be used to identify what environmental exposures have been shared with family members at critical developmental windows of time, and additional analysis will be applied.Keywords: family pedigree, environmental exposure, geographic legacy, medical geography, transgenerational inheritance
Procedia PDF Downloads 116819 Genetic Analysis of CYP11A1 Gene with Polycystic Ovary Syndrome from North India
Authors: Ratneev Kaur, Tajinder Kaur, Anupam Kaur
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Introduction: Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder of endocrine system among women of reproductive age. PCOS is characterized by hyperandrogenism, anovulation, polycystic ovaries, hirsutism, obesity, and hyperinsulinemia. Several pathways are implicated in its etiology including the metabolic pathway of steroid hormone synthesis regulatory pathways. PCOS is an androgen excess disorder, genes operating in steroidogenesis may alter pathogenesis of PCOS. The cytochrome P450scc is a cholesterol side chain cleavage enzyme coded by CYP11A1 gene and catalyzes conversion of cholesterol to pregnenolone, the initial and rate-limiting step in steroid hormone synthesis. It is postulated that polymorphisms in this gene may play an important role in the regulation of CYP11A1 expression and leading to increased or decreased androgen production. The present study will be the first study from north India to best of our knowledge, to analyse the association of CYP11A1 (rs11632698) polymorphism in women suffering from PCOS. Methodology: The present study was approved by ethical committee of Guru Nanak Dev University in consistent with declaration of Helsinki. A total of 300 samples (150 PCOS cases and 150 controls) were recruited from Hartej hospital, for the present study. Venous blood sample (3ml) was withdrawn from women diagnosed with PCOS by doctor, according to Rotterdam 2003 criteria and from healthy age matched controls only after informed consent and detailed filled proforma. For molecular genetics analysis, blood was stored in EDTA vials. After DNA isolation by organic method, PCR-RFLP approach was used for genotyping and association analysis of rs11632698 polymorphism. Statistical analysis was done to check for significance of selected polymorphism with PCOS. Results: In 150 PCOS cases, the frequency of AA, AG and GG genotype was found to be 48%, 35%, and 13% compared to 62%, 27% and 8% in 150 controls. The major allele (A) and minor allele (G) frequency was 68% and 32% in cases and 78% and 22% in controls. Minor allele frequency was higher in cases as compared to controls, as well as the distribution of genotype was observed to be statistically significant (ᵡ²=6.525, p=0.038). Odds ratio in dominant, co-dominant and recessive models observed was 1.81 (p=0.013), 1.54 (p=0.012) and 1.77 (p=0.132) respectively. Conclusion: The present study showed statistically significant association of rs11632698 with PCOS (p=0.038) in North Indian women.Keywords: polycystic ovary syndrome, CYP11A1, rs11632698, hyperandrogenism
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