Search results for: congenital disorder
408 Analysis of Gait Characteristics Using Dynamic Foot Scanner in Type 2 Diabetes Mellitus
Authors: C. G. Shashi Kumar, G. Arun Maiya, H. Manjunath Hande, K. V. Rajagopal
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Background: Diabetes mellitus (DM) is a metabolic disorder with involvement of neurovascular and muscular system. Studies have documented that the gait parameter is altered in type 2 diabetes mellitus with peripheral neuropathy. However, there is a dearth of literature regarding the gait characteristics in type 2 diabetes mellitus (T2DM) without peripheral neuropathy. Therefore, the present study is focused on identifying gait changes in early type 2 diabetes mellitus without peripheral neuropathy. Objective: To analyze the gait characteristics in Type 2 diabetes mellitus without peripheral neuropathy. Methods: After obtaining ethical clearance from Institutional Ethical Committee (IEC), 36 T2DM without peripheral neuropathy and 32 matched healthy subjects were recruited. Gait characteristics (step duration, gait cycle length, gait cycle duration, stride duration, step length, double stance duration) of all the subjects were analyzed using Windtrack dynamic foot scanner. Data were analyzed using Independent‘t’ test to find the difference between the groups (step duration, gait cycle length, gait cycle duration) and Mann-Whitney test was used to analyze the step length and double stance duration to find difference between the groups. Level of significance was kept at P<0.05. Results: Result analysis showed significant decrease in step duration, gait cycle length, gait cycle duration, step length, double stance duration in T2DM subjects as compared to healthy subjects. We also observed a mean increase in stride duration in T2DM subjects compared to healthy subjects.Keywords: type 2 diabetes mellitus, dynamic foot scan, gait characteristics, medical and health sciences
Procedia PDF Downloads 439407 The Invisible Labour of Informal Care: Parentified Caregiving in David Chariandy's Soucouyant
Authors: Walter Rafael Ramos Villanueva
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The overwhelming majority of scholarship on David Chariandy’s novel Soucouyant focuses on how Adele’s dementia represents the preservation of “cultural memory” and the perniciousness of “historical trauma.” However, by metaphorizing Adele’s mental condition, these critics risk treating her dementia as mostly figurative, and they thus elide a more detailed discussion of the literal ramifications of her dementia diagnosis. To move beyond these readings, then, my paper will approach Adele’s disorder as a literal medical condition and explore how her caregiving needs affect not only her but also those around her. Soucouyant subverts traditional caregiving narratives by depicting the difficult and typically invisible labour of informal caregiving that is undertaken by the families and friends of those who are ill or otherwise disabled. Because Adele’s family is unable to access proper public healthcare resources within the community, the burden of care falls upon the protagonist and his brother, who become “parentified children.” Parentified children, according to Nancy D. Chase, are “parents to their parents, and fulfill this role at the expense of their own developmentally appropriate needs and pursuits.” The novel provides a depiction of informal caregiving that is multi-faceted and asks us to question why is it exactly that we place the burden of care on those who are not equipped to handle such pressures instead of putting the onus on the government and the public healthcare system to take care of its most vulnerable members. Ageing Studies scholar Larry Polvika notes that although policymakers often offer “pious expressions of appreciation” and acknowledge that informal caregiving is “the backbone of our long-term care system,” governmental support for these caregivers remains inadequate. It is my belief that, by showcasing the struggles of informal caregivers, Chariandy’s text combats this dangerous and empty political rhetoric.Keywords: caregiving, dementia, literature, parentified children
Procedia PDF Downloads 174406 Profile of the Elderly Users of Alcohol and Other Drugs Attended at the Psychosocial Care Centers in the Federal District
Authors: J. S. P. Barbosa, L. C. Pereira, K. R. Garcia, P. C. P. Bouchardet, S. C. T. Vieira, A. O. Gomes, S. S. Funghetto, M. G. O. Kanikowski
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For this population, height seems to be a good predictor of strength and body composition. This increase in life expectancy of the Brazilian's population is associated with sociodemographic variables, but also to more access to health services in the prevention and better living conditions. With the growth of elderly population, a problem that has been a concern to health's professionals and public health at all is the use of psychoactive substances. The purpose of this study was to identify the sociodemographic profile of the elderly people who was attended at the Center of Psychosocial Care of alcohol and other drugs in the Federal District of Brazil. 408 medical records of people aged 60 years or over were evaluated, and it is possible to know that most of them were males (85.3%), with a mean age of 64 years (DP ± 4.16), 60 and 84 years and a mean age of 64 years (DP ± 4.42); 88.2% have some family ties, are married and have children, with relatives living in masonry housing. The educational level of drug users was considered low with more emphasis on those who had elementary education being the majority retired or unemployed. Regarding the street situation, there was no significance (p = 0.084), and the women (OR = 2.98) had few chances of street situations compared to men (OR = 0.89). As for substance consumption, the highest quantity of drug consumption bids in relation to the number of illicit. It did not present significant statistical value, and there is a greater probability of consumption/abuse of legal and/or illicit drugs for both sexes (OR = 0.96) for men and (OR = 1.32) for women. In relation to the use of multiple drugs, there was no significant difference between the sexes, (OR = 1.1) male sex and (OR = 0.74) female sex. Based on the results found in the present study, it was concluded that alcohol consumption is the main agent that causes vulnerability in the elderly and predisposes the latter to the consumption of other associated drugs.Keywords: centers of attention psychosocial alcohol and drugs, elderly, mental disorder due to drug use, street situations
Procedia PDF Downloads 212405 Developing an Edutainment Game for Children with ADHD Based on SAwD and VCIA Model
Authors: Bruno Gontijo Batista
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This paper analyzes how the Socially Aware Design (SAwD) and the Value-oriented and Culturally Informed Approach (VCIA) design model can be used to develop an edutainment game for children with Attention Deficit Hyperactivity Disorder (ADHD). The SAwD approach seeks a design that considers new dimensions in human-computer interaction, such as culture, aesthetics, emotional and social aspects of the user's everyday experience. From this perspective, the game development was VCIA model-based, including the users in the design process through participatory methodologies, considering their behavioral patterns, culture, and values. This is because values, beliefs, and behavioral patterns influence how technology is understood and used and the way it impacts people's lives. This model can be applied at different stages of design, which goes from explaining the problem and organizing the requirements to the evaluation of the prototype and the final solution. Thus, this paper aims to understand how this model can be used in the development of an edutainment game for children with ADHD. In the area of education and learning, children with ADHD have difficulties both in behavior and in school performance, as they are easily distracted, which is reflected both in classes and on tests. Therefore, they must perform tasks that are exciting or interesting for them, once the pleasure center in the brain is activated, it reinforces the center of attention, leaving the child more relaxed and focused. In this context, serious games have been used as part of the treatment of ADHD in children aiming to improve focus and attention, stimulate concentration, as well as be a tool for improving learning in areas such as math and reading, combining education and entertainment (edutainment). Thereby, as a result of the research, it was developed, in a participatory way, applying the VCIA model, an edutainment game prototype, for a mobile platform, for children between 8 and 12 years old.Keywords: ADHD, edutainment, SAwD, VCIA
Procedia PDF Downloads 189404 Mental Disorders and Physical Illness in Geriatric Population
Authors: Vinay Kumar, M. Kishor, Sathyanarayana Rao Ts
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Background: Growth of elderly people in the general population in recent years is termed as ‘greying of the world’ where there is a shift from high mortality & fertility to low mortality and fertility, resulting in an increased proportion of older people as seen in India. Improved health care promises longevity but socio-economic factors like poverty, joint families and poor services pose a psychological threat. Epidemiological data regarding the prevalence of mental disorders in geriatric population with physical illness is required for proper health planning. Methods: Sixty consecutive elderly patients aged 60 years or above of both sexes, reporting with physical illness to general outpatient registration counter of JSS Medical College and Hospital, Mysore, India, were considered for the Study. With informed consent, they were screened with General Health Questionnaire (GHQ-12) and were further evaluated for diagnosing mental disorders according to WHO International Classification of Diseases (ICD-10) criteria. Results: Mental disorders were detected in 48.3%, predominantly depressive disorders, nicotine dependence, generalized anxiety disorder, alcohol dependence and least was dementia. Most common physical illness was cardiovascular disease followed by metabolic, respiratory and other diseases. Depressive disorders, substance dependence and dementia were more associated with cardiovascular disease compared to metabolic disease and respiratory diseases were more associated with nicotine dependence. Conclusions: Depression and Substance use disorders among elderly population is of concern, which needs to be further studied with larger population. Psychiatric morbidity will adversely have an impact on physical illness which needs proper assessment and management. This will enhance our understanding and prioritize our planning for future.Keywords: Geriatric, mental disorders, physical illness, psychiatry
Procedia PDF Downloads 286403 Iodine Nutritional Knowledge of Food Handlers: A Capricorn and Waterberg District Study, Limpopo Province, South Africa
Authors: Solomon Ngoako Mabapa, Selekane Ananias Motadi, Nteseng Mailula, Hlekani Vanessa Mbhatsani, Lindelani Fhumudzani Mushaphi
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Background: South Africa has indeed made good progress towards IDD elimination, as far as implementation of salt iodization and coverage of iodized salt are concerned, the education and promotion aspects of the iodized salt intervention are seriously lacking. Objective: To determine the iodine nutritional knowledge of food handlers at primary schools under the National School Nutrition Programme in Capricorn and Waterberg district. Design: This study included 300 food handlers recruited from 95 primary schools in Capricorn district and 105 primary schools in Waterberg district, Limpopo Province, South Africa. Primary schools and study participants where conveniently selected. The data was collected by means of a structured questionnaire. Information obtained was on the socio-demographic characteristics of the participants, general knowledge on salt fortification and knowledge test. Results: The iodine knowledge for the food handlers in two districts was poor with the entire population’s iodine nutritional knowledge of 12% on the Lickert scale. The mean score on the Lickert scale for Capricorn and Waterberg districts was 17% and 8.6% respectively indicated poor iodine nutritional knowledge. Conclusion: The two districts had poor iodine nutritional knowledge. Giving nutrition education to the public on the importance of iodine and the consequences of iodine deficiency disorder (IDD) and continue advocacy on mass media on the iodine fortification as an intervention strategy to combat the escalating problem of micronutrient malnutrition control.Keywords: food handlers, nutritional knowledge, iodine, National School Nutrition Programme
Procedia PDF Downloads 235402 Use of Smartwatches for the Emotional Self-Regulation of Individuals with Autism Spectrum Disorder (ASD)
Authors: Juan C. Torrado, Javier Gomez, Guadalupe Montero, German Montoro, M. Dolores Villalba
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One of the most challenging aspects of the executive dysfunction of people with Autism Spectrum Disorders is the behavior control. This is related to a deficit in their ability to regulate, recognize and manage their own emotions. Some researchers have developed applications for tablets and smartphones to practice strategies of relaxation and emotion recognition. However, they cannot be applied to the very moment of temper outbursts, anger episodes or anxiety, since they require to carry the device, start the application and be helped by caretakers. Also, some of these systems are developed for either obsolete technologies (old versions of tablet devices, PDAs, outdated operative systems of smartphones) or specific devices (self-developed or proprietary ones) that create differentiation between the users and the rest of the individuals in their context. For this project we selected smartwatches. Focusing on emergent technologies ensures a wide lifespan of the developed products, because the derived products are intended to be available in the same moment the very technology gets popularized, not later. We also focused our research in commercial versions of smartwatches, since this way differentiation is easily avoided, so the users’ abandonment rate lowers. We have developed a smartwatch system along with a smartphone authoring tool to display self-regulation strategies. These micro-prompting strategies are conformed of pictograms, animations and temporizers, and they are designed by means of the authoring tool: When both devices synchronize their data, the smartwatch holds the self-regulation strategies, which are triggered when the smartwatch sensors detect a remarkable rise of heart rate and movement. The system is being currently tested in an educational center of people with ASD of Madrid, Spain.Keywords: assistive technologies, emotion regulation, human-computer interaction, smartwatches
Procedia PDF Downloads 296401 Effect of a GABA/5-HTP Mixture on Behavioral Changes and Biomodulation in an Invertebrate Model
Authors: Kyungae Jo, Eun Young Kim, Byungsoo Shin, Kwang Soon Shin, Hyung Joo Suh
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Gamma-aminobutyric acid (GABA) and 5-hydroxytryptophan (5-HTP) are amino acids of digested nutrients or food ingredients and these can possibly be utilized as non-pharmacologic treatment for sleep disorder. We previously investigated the GABA/5-HTP mixture is the principal concept of sleep-promoting and activity-repressing management in nervous system of D. melanogaster. Two experiments in this study were designed to evaluate sleep-promoting effect of GABA/5-HTP mixture, to clarify the possible ratio of sleep-promoting action in the Drosophila invertebrate model system. Behavioral assays were applied to investigate distance traveled, velocity, movement, mobility, turn angle, angular velocity and meander of two amino acids and GABA/5-HTP mixture with caffeine treated flies. In addition, differentially expressed gene (DEG) analyses from next generation sequencing (NGS) were applied to investigate the signaling pathway and functional interaction network of GABA/5-HTP mixture administration. GABA/5-HTP mixture resulted in significant differences between groups related to behavior (p < 0.01) and significantly induced locomotor activity in the awake model (p < 0.05). As a result of the sequencing, the molecular function of various genes has relationship with motor activity and biological regulation. These results showed that GABA/5-HTP mixture administration significantly involved the inhibition of motor behavior. In this regard, we successfully demonstrated that using a GABA/5-HTP mixture modulates locomotor activity to a greater extent than single administration of each amino acid, and that this modulation occurs via the neuronal system, neurotransmitter release cycle and transmission across chemical synapses.Keywords: sleep, γ-aminobutyric acid, 5-hydroxytryptophan, Drosophila melanogaster
Procedia PDF Downloads 309400 An Educational Application of Online Games for Learning Difficulties
Authors: Maria Margoudi, Zacharoula Smyraniou
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The current paper presents the results of a conducted case study, which was part of the author’s master thesis. During the past few years the number of children diagnosed with Learning Difficulties has drastically augmented and especially the cases of ADHD (Attention Deficit Hyperactivity Disorder). One of the core characteristics of ADHD is a deficit in working memory functions. The review of the literature indicates a plethora of educational software that aim at training and enhancing the working memory. Nevertheless, in the current paper, the possibility of using for the same purpose free, online games will be explored. Another issue of interest is the potential effect of the working memory training to the core symptoms of ADHD. In order to explore the abovementioned research questions, three digital tests are employed, all of which are developed on the E-slate platform by the author, in order to check the level of ADHD’s symptoms and to be used as diagnostic tools, both in the beginning and in the end of the case study. The tools used during the main intervention of the research are free online games for the training of working memory. The research and the data analysis focus on the following axes: a) the presence and the possible change in two of the core symptoms of ADHD, attention and impulsivity and b) a possible change in the general cognitive abilities of the individual. The case study was conducted with the participation of a thirteen year-old, female student, diagnosed with ADHD, during after-school hours. The results of the study indicate positive changes both in the levels of attention and impulsivity. Therefore we conclude that the training of working memory through the use of free, online games has a positive impact on the characteristics of ADHD. Finally, concerning the second research question, the change in general cognitive abilities, no significant changes were noted.Keywords: ADHD, attention, impulsivity, online games
Procedia PDF Downloads 358399 Kissing Cervical Spine Schwannomas in a Young Female from a Low Resource Setting: A Case Report
Authors: Joseph Mary Ssembatya, Blessing Michael Taremwa
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Background: Multiple schwannomas are typically associated with neurofibromatosis type 1 (NF1), but rare cases occur independently of neurofibromatosis. Schwannomas are benign, slow-growing tumors, primarily affecting the cervical and lumbar spine. When large, they may extend over multiple vertebral levels, posing surgical challenges. Case Presentation: A 13-year-old Ugandan Munyankore female patient, presented with a 6-year history of progressive quadriparesis, particularly in the lower limbs. Clinical examination showed hypertonia and hyperreflexia, with no indicators of neurofibromatosis or prior trauma. MRI revealed two “kissing” schwannomas extending from C2 to T2 in the cervical spine. Decompressive surgery was performed through laminoplasty and partial lesion resection, and histology confirmed schwannoma. Two weeks postoperatively, the patient experienced cerebrospinal fluid (CSF) leakage, neck pain, and headache, which required re-operation and duraplasty. Following these interventions, the patient’s neurological status stabilized, with noted improvement in lower limb strength. Discussion: “Kissing” schwannomas are most frequently documented in the cerebellopontine angle, rarely in the spine, and even more rarely in children. While multiple schwannomas are often associated with NF2, this case had no family history or clinical signs of the disorder. Giant invasive spinal schwannomas (GISS) that span multiple vertebrae demand intricate surgical approaches due to their proximity to neurovascular structures. Conclusion: This is the first reported case of kissing cervical schwannomas in a young patient from a low- to middle-income country. Surgical decompression, though challenging, is critical for neurological recovery in such advanced cases.Keywords: kissing schwannoma, cervical spine, low resource, young, uganda
Procedia PDF Downloads 13398 Single Item Presenteeism Question Reliability and Validity of Persian Version in Low Back Pain Patients
Authors: Mohammadreza Khanmohammadi, Noureddin Nakhostin Ansari, Soofia Naghdi
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Purpose: Our study aimed to validate single item presenteeism question (SIPQ) into the Persian language for patients with low back pain. Background information: low back pain is a common health problem, and it is one of the most prevalent disorder in working people. There are the different subjective way to evaluate the effect of back pain on work productivity that one of them is by implementing single item presenteeism question. This question has not been validated into the Persian language. Method: Patients were asked to answer SIPQ and pain from 0 to 10 according to numerical rating scale (NRS). The functional rating index was administrated to evaluate construct validity. For test-retest reliability, almost 50 patients re-completed the Persian SIPQ. The construct validity of SIPQ was assessed by analyzing Spearman rank correlation between this question and the Persian version of Functional rating index questionnaire. To analyze test-retest reliability, we assessed intraclass correlation coefficient (agreement) (ICC agreement) (two-way random effects model, single measure). Results: The SIPQ score of two groups of patients (84 males, 16 females, mean age ±SD: 33.85±11.16 years, range: 19-67 years) and healthy subjects (48 male, 2 female ones, mean age ±SD: 24.24 ±8.07 years) was statistically significant. (Mann-Whitney U =198.00, P<.001). The Spearman correlation of data showed that there is a significant correlation between Persian SIPQ score and Persian FRI band (r= .559, P<.001). The ICC was .62. So, the analysis indicated good, test-retest reliability. Conclusion: This study showed that Persian version of SIPQ is reliable and valid when applied to back pain patients.Keywords: cross cultural adaptation, economic burden, low back pain, Persian language, translation
Procedia PDF Downloads 411397 Pistachio Supplementation Ameliorates the Motor and Cognitive Deficits in Rotenone-Induced Rat Model of Parkinson’s Disease
Authors: Saida Haider, Syeda Madiha
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Parkinson’s disease (PD) is a common neurological disorder characterized by motor deficits and loss of dopaminergic neurons. Oxidative stress is said to play a pivotal role in the pathophysiology of the disease. In the present study, PD was induced by injection of rotenone (1.5 mg/kg/day, s.c.) for eight days. Pistachio (800 mg/kg/day, p.o.) was given for two weeks. At the end of treatment brains were dissected out and striatum was isolated for biochemical and neurochemical analysis. Morris water maze (MWM) test and novel object recognition (NOR) task was used to test the memory function while motor behavior was determined by open field test (OFT), Kondziela inverted screen test (KIST), pole test (PT), beam walking test (BWT), inclined plane test (IPT) and footprint (FP) test. Several dietary components have been evaluated as potential therapeutic compounds in many neurodegenerative diseases. Increasing evidence shows that nuts have protective effects against various diseases by improving the oxidative status and reducing lipid peroxidation. Pistachio is the only nut that contains anthocyanin, a potent antioxidant having neuroprotective properties. Results showed that pistachio supplementation significantly restored the rotenone-induced motor deficits and improved the memory performance. Moreover, rats treated with pistachio also exhibited enhanced oxidative status and increased dopamine (DA) and 5-hydroxytryptamine (5-HT) concentration in striatum. In conclusion, to our best knowledge, we have for the first time shown that pistachio nut possesses neuroprotective effects against rotenone-induced motor and cognitive deficits. These beneficial effects of pistachio may be attributed to its high content of natural antioxidant and phenolic compounds. Hence, consumption of pistachio regularly as part of a daily diet can be beneficial in the prevention and treatment of PD.Keywords: rotenone, pistachio, oxidative stress, Parkinson’s disease
Procedia PDF Downloads 106396 The Safety Profile of Vilazodone: A Study on Post-Marketing Surveillance
Authors: Humraaz Kaja, Kofi Mensah, Frasia Oosthuizen
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Background and Aim: Vilazodone was approved in 2011 as an antidepressant to treat the major depressive disorder. As a relatively new drug, it is not clear if all adverse effects have been identified. The aim of this study was to review the adverse effects reported to the WHO Programme for International Drug Monitoring (PIDM) in order to add to the knowledge about the safety profile and adverse effects caused by vilazodone. Method: Data on adverse effects reported for vilazodone was obtained from the database VigiAccess managed by PIDM. Data was extracted from VigiAccess using Excel® and analyzed using descriptive statistics. The data collected was compared to the patient information leaflet (PIL) of Viibryd® and the FDA documents to determine adverse drug reactions reported post-marketing. Results: A total of 9708 adverse events had been recorded on VigiAccess, of which 6054 were not recorded on the PIL and the FDA approval document. Most of the reports were received from the Americas and were for adult women aged 45-64 years (24%, n=1059). The highest number of adverse events reported were for psychiatric events (19%; n=1889), followed by gastro-intestinal effects (18%; n=1839). Specific psychiatric disorders recorded included anxiety (316), depression (208), hallucination (168) and agitation (142). The systematic review confirmed several psychiatric adverse effects associated with the use of vilazodone. The findings of this study suggested that these common psychiatric adverse effects associated with the use of vilazodone were not known during the time of FDA approval of the drug and is not currently recorded in the patient information leaflet (PIL). Conclusions: In summary, this study found several adverse drug reactions not recorded in documents emanating from clinical trials pre-marketing. This highlights the importance of continued post-marketing surveillance of a drug, as well as the need for further studies on the psychiatric adverse events associated with vilazodone in order to improve the safety profile.Keywords: adverse drug reactions, pharmacovigilance, post-marketing surveillance, vilazodone
Procedia PDF Downloads 114395 Intracranial Hypertension without CVST in Apla Syndrome: An Unique Association
Authors: Camelia Porey, Binaya Kumar Jaiswal
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BACKGROUND: Antiphospholipid antibody (APLA) syndrome is an autoimmune disorder predisposing to thrombotic complications affecting CNS either by arterial vasooclusion or venous thrombosis. Cerebral venous sinus thrombosis (CVST) secondarily causes raised intracranial pressure (ICP). However, intracranial hypertension without evidence of CVST is a rare entity. Here we present two cases of elevated ICP with absence of identifiable CVST. CASE SUMMARY: Case 1, 28-year female had a 2 months history of holocranial headache followed by bilateral painless vision loss reaching lack of light perception over 20 days. CSF opening pressure was elevated. Fundoscopy showed bilateral grade 4 papilledema. MRI revealed a partially empty sella with bilateral optic nerve tortuosity. Idiopathic intracranial hypertension (IIH) was diagnosed. With acetazolamide, there was complete resolution of the clinical and radiological abnormalities. 5 months later she presented with acute onset right-sided hemiparesis. MRI was suggestive of acute left MCA infarct.MR venogram was normal. APLA came positive with high titres of Anticardiolipin and Beta 2 glycoprotein both IgG and IgM. Case 2, 23-year female, presented with headache and diplopia of 2 months duration. CSF pressure was elevated and Grade 3 papilledema was seen. MRI showed bilateral optic nerve hyperintensities with nerve head protrusion with normal MRV. APLA profile showed elevated beta 2 glycoprotein IgG and IgA. CONCLUSION: This is an important non thrombotic complication of APLA syndrome and requires further large-scale study for insight into the pathogenesis and early recognition to avoid future complications.Keywords: APLA syndrome, idiopathic intracranial hypertension, MR venogram, papilledema
Procedia PDF Downloads 176394 Type 2 Diabetes Mellitus Among a St. Lucian Population: What We Know about Lifestyle Modification
Authors: Bradley Fevrier
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Background: Type 2 diabetes mellitus, a non-communicable metabolic disorder, is a fast-growing problem for health, as it presents numerous complications and death worldwide. St. Lucia, much like most other emerging nation in the Caribbean, struggles with the management of type 2 diabetes mellitus (T2DM) among its populace. Good knowledge, attitude, and practices [KAP] of T2DM are essential in the prevention and management of this disease.Lifestyle adaptation, including increased knowledge, positive attitude, and efficient practice towards lifestyle modifications, can avert the advancement of difficulties associated with diabetes. Methods: An institutional-based cross-sectional study was conducted during the period June 15, 2022, to July15 2022. Data were collected by using the self-administered questionnaire designed to collect the required information from participants, and the data wasanalyzed using the statistical package for social science (SPSS) version 26. Knowledge, attitude, and practice of lifestyle modification among participants were determined using descriptive statistics. Results: A total of 402 participants completed the study, fully yielding an 84% response rate. Overall, the assessed levels of KAP relating to the life-threatening complications of T2DM were moderate. Results further indicated that women outnumbered men 68.4% to 31.6%, respectively. Significant positive correlation (r= 0.244, p<0.001) and (r=.203, p<0.001) were found between the knowledge level as well as the attitude level of study respondents. Conclusion: The overall study findings regarding the level of knowledge and attitude concerning lifestyle modifications among study participants were interpreted as generally high. However, the practice of healthy lifestyle modification habits was poor. The current findings suggest a need for structured educational campaigns prioritizing the importance of lifestyle modifications (weight loss, smoking cessation, physical exercise) to the general population.Keywords: Diabetes, knowledge, lifestyle, survey
Procedia PDF Downloads 125393 Numerical Investigation of Entropy Signatures in Fluid Turbulence: Poisson Equation for Pressure Transformation from Navier-Stokes Equation
Authors: Samuel Ahamefula Mba
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Fluid turbulence is a complex and nonlinear phenomenon that occurs in various natural and industrial processes. Understanding turbulence remains a challenging task due to its intricate nature. One approach to gain insights into turbulence is through the study of entropy, which quantifies the disorder or randomness of a system. This research presents a numerical investigation of entropy signatures in fluid turbulence. The work is to develop a numerical framework to describe and analyse fluid turbulence in terms of entropy. This decomposes the turbulent flow field into different scales, ranging from large energy-containing eddies to small dissipative structures, thus establishing a correlation between entropy and other turbulence statistics. This entropy-based framework provides a powerful tool for understanding the underlying mechanisms driving turbulence and its impact on various phenomena. This work necessitates the derivation of the Poisson equation for pressure transformation of Navier-Stokes equation and using Chebyshev-Finite Difference techniques to effectively resolve it. To carry out the mathematical analysis, consider bounded domains with smooth solutions and non-periodic boundary conditions. To address this, a hybrid computational approach combining direct numerical simulation (DNS) and Large Eddy Simulation with Wall Models (LES-WM) is utilized to perform extensive simulations of turbulent flows. The potential impact ranges from industrial process optimization and improved prediction of weather patterns.Keywords: turbulence, Navier-Stokes equation, Poisson pressure equation, numerical investigation, Chebyshev-finite difference, hybrid computational approach, large Eddy simulation with wall models, direct numerical simulation
Procedia PDF Downloads 94392 Evaluating the Validity of the Combined Bedside Test in Diagnosing Juvenile Myasthenia Gravis (2012-2024)
Authors: Pechpailin Kortnoi, Tanitnun Paprad
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Background: Myasthenia gravis (MG) is an autoimmune disorder characterized by impaired neuromuscular transmission due to antibodies against nicotinic receptors, leading to muscle weakness, ptosis, and respiratory issues. The incidence of MG has risen globally, emphasizing the need for effective diagnostics. Objective: This study evaluates the validity of a combined bedside test (the ice pack test and fatigability test) for diagnosing juvenile myasthenia gravis (JMG) in pediatric patients with ptosis. Methods: This cross-sectional study, conducted from January 2012 to May 2024 at King Chulalongkorn Memorial Hospital, Thailand, included pediatric patients (1 month to 18 years) with ptosis undergoing ice pack and fatigability tests. Data included demographics, clinical findings, and test results. Diagnostic efficacy was assessed using sensitivity, specificity, accuracy, PPV, NPV, Fagan Nomogram, Kappa Statistics, and McNemar’s Chi-Square. Results: Of 43 identified patients, 32 were included, with 47% male and a mean age of 7 years. The combined bedside test had high sensitivity (92.8%) and accuracy (87.5%) but moderate specificity (50%). It significantly outperformed the ice pack test (P = 0.0005), which showed low sensitivity (42.8%) and accuracy (43.8%). The fatigability test had 82% sensitivity and 92% PPV. Confirmatory tests (AChR-Ab, MuSK-Ab, neostigmine, repetitive nerve stimulation) supported most diagnoses. Conclusions: The combined bedside test, with high sensitivity (92.8%) and accuracy (87.5%), is an effective screening tool for juvenile myasthenia gravis, outperforming the ice pack test. Integrating it into clinical practice may improve diagnosis and enable timely treatment. The fatigability test (82% sensitivity) is also useful as an adjunct screening tool.Keywords: myasthenia gravis (MG), the ice pack test, the fatigability test, the combined bedside test
Procedia PDF Downloads 5391 Stressful Life Events and Their Influence on Childhood Obesity and Emotional Well-Being: Cross-Sectional Study
Authors: M. Rojo, M. Blanco, T. Lacruz, S. Solano, L. Beltran, M. Graell, A. R. Sepulveda.
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There is an association between an early accumulation of Stressful Life Events (SLE) during childhood and various physical and psychological health complications. However, there are only a few studies on this topic in children and adolescents with overweight or obesity. The general aim of the study was to evaluate the accumulation and type of SLE in 200 children from 8 to 12 years old and analyze the relationship with their emotional well-being and weight status (obesity, overweight and normal weight). The children and their families completed an interview. The evaluated variables that are included in this study are sociodemographic measures, medical/psychological history, anthropometric measures (BMI, z-BMI), and psychological variables (children's clinical interview K-SADS-PL(Schedule for Affective Disorders and Schizophrenia for School-Age Children Present and Lifetime Version) and battery of questionnaires). Results: Children with overweight and obesity accumulate more stressful events from an early age and have a significantly higher percentage of psychiatric diagnoses, compared to their peers with normal weight. Presenting a child psychiatric disorder is related to greater z-BMI and the total number of SLE (p < 0.001). A higher z-BMI is also related to a greater number of stressful events during childhood. There is also a positive and significant relationship between the total number of SLE and worse emotional well-being (higher levels of anxious and depressive symptoms and low self-esteem of children) (p < 0.01). Conclusion: Children with overweight and obesity grow up in a family, school, and social context where more stressors are accumulated. This is also directly associated with worse emotional well-being. It is necessary to implement multidisciplinary prevention and intervention strategies in different changes (school, family, and health). This study is included in a project funded by the Ministry of Innovation and Science (PSI2011-23127).Keywords: childhood obesity, emotional well-being, psychopathology, stressful life events
Procedia PDF Downloads 127390 An Evaluation of Rational Approach to Management by Objectives in Construction Contracting Organisation
Authors: Zakir H. Shaik, Punam L. Vartak
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Management By Objectives (MBO) is a management technique in which objectives of an organisation are conveyed to the employees to establish the individual goals. These objectives and goals are then monitored and assessed jointly by management and the employee time to time. This tool can be used for planning, monitoring as well as for performance appraisal. The success of an organisation is largely dependent on its’s Vision. Thus, it is of paramount importance to achieve the realm of vision through a mission which is well crafted within the organisation to address the objectives. The success of the mission depends upon how realistic and action oriented philosophical approach, an organisation caters to; and how the individual goals are set to track and meet the objectives. Thus, focused and passionate efforts of the team, assigned for the mission, are an absolute obligation for achieving the vision of any organisation. Any construction site is generally a controlled disorder having huge investments, resources and logistics involved. The Construction progression is time-consuming with many isolated as well as interconnected activities. Traditional MBO approach can be unsuccessful if planning and control is non-realistic and inflexible. Moreover, the Construction Industry is far behind understanding these concepts. It is important to address the employee engagement in defining and creating awareness to achieve the targets. Besides, current economic environment and competitive world demands refined management tools to achieve profit, growth and survival of the business. Therefore, the necessity of rational MBO becomes vital part towards the success of an organisation. This paper details about the philosophical assumptions to develop the grounded theory in lieu of achieving objectives through RATIONAL MBO approach in Construction Contracting Organisations. The goals and objectives of the Construction Contracting Organisations can be achieved efficiently by adopting this RATIONAL MBO approach, as those are based on realistic, logical and balanced assumptions.Keywords: growth, leadership, management by objectives, Management By Objectives (MBO), profit, rational
Procedia PDF Downloads 153389 MicroRNA-211 Regulates Oxidative Phosphorylation and Energy Metabolism in Human Vitiligoa
Authors: Anupama Sahoo, Bongyong Lee, Katia Boniface, Julien Seneschal, Sanjaya K. Sahoo, Tatsuya Seki, Chunyan Wang, Soumen Das, Xianlin Han, Michael Steppie, Sudipta Seal, Alain Taieb, Ranjan J. Perera
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Vitiligo is a common, chronic skin disorder characterized by loss of epidermal melanocytes and progressive depigmentation. Vitiligo has a complex immune, genetic, environmental, and biochemical etiology, but the exact molecular mechanisms of vitiligo development and progression, particularly those related to metabolic control, are poorly understood. Here we characterized the human vitiligo cell line PIG3V and the normal human melanocytes, HEM-l by RNA-sequencing, targeted metabolomics, and shotgun lipidomics. Melanocyte-enriched miR-211, a known metabolic switch in non-pigmented melanoma cells, was severely downregulated in vitiligo cell line PIG3V and skin biopsies from vitiligo patients, while its novel predicted targets transcriptional co-activator PGC1-α (PPARGC1A), ribonucleotide reductase regulatory subunit M2 (RRM2), and serine-threonine protein kinase TAO1 (TAOK1) were reciprocally upregulated. miR-211 binds to PGC1-α 3’UTR locus and represses it. Although mitochondrial numbers were constant, mitochondrial complexes I, II, and IV and respiratory responses were defective in vitiligo cells. Nanoparticle-coated miR-211 partially augmented the oxygen consumption rate in PIG3V cells. The lower oxygen consumption rate, changes in lipid and metabolite profiles, and increased reactive oxygen species production observed in vitiligo cells appear to be partly due to abnormal regulation of miR-211 and its target genes. These genes represent potential biomarkers and therapeutic targets in human vitiligo.Keywords: metabolism, microRNA, mitochondria, vitiligo
Procedia PDF Downloads 367388 Role of Family in Child Behavior Problems: A General Overview of Dissertations and Thesis at Turkey
Authors: Selen Demirtas Zorbaz, Ozlem Ulas
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Examining the reasons of child behaviour problems has been one of the focus of psychology and related disciplines for so long. It can be said there is a lot of reasons of child behaviour problems and familial factors might be the leading ones. When taking into account the prevalence of the children having behaviour problems in Turkey, it can be said that it is important to carry out studies putting forward the reasons of behaviour problems. From this point of view, the aim of this study is to examine dissertations and thesis putting forward the relationship between problem behaviour of the children (12-year-old and younger) and teenagers (12-18 years old), and familial factors. For that purpose, 46 dissertations that were chosen according to the study criteria out of 141 dissertations scanned by using the keywords of ‘behaviour problems’ and ‘behaviour disorder’ at Higher Education Thesis Centre between the years of 1989 and 2016 have been taken into the scope of the study. ‘Thesis Examination Draft Form’ has been prepared for the purpose of being used for data collecting tool. For the analysis of the data, percentage, and frequency analysis methods have been used. When the results of these studies are evaluated on the whole, it is seen that all the dissertations and thesis done are descriptive study, and it was not encountered any studies designed as experimental. When looked at the distribution of dissertations by years, it is seen that the first thesis was done in 1989 and the most number of dissertations were done in the years of 2014 and 2016. When looked at the department in which the dissertations were done, it can be said that dissertations and thesis were done in many different fields of disciplines ranging from psychology and special education. In addition to this, when investigated the group taken into the scope of dissertations and thesis research, it is seen that the children mostly worked with are below the age of 12 and types of studies are master’s thesis. When the dissertations and thesis are examined by means of topics, it is seen that mostly-studied topics are demographic variables such as gender, whether the family is fragmented or not, education level of the family and the parents’ attitude. Obtained findings have been examined in the light of literature.Keywords: family, child behaviour problem, dissertations, thesis
Procedia PDF Downloads 233387 Amblyopia and Eccentric Fixation
Authors: Kristine Kalnica-Dorosenko, Aiga Svede
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Amblyopia or 'lazy eye' is impaired or dim vision without obvious defect or change in the eye. It is often associated with abnormal visual experience, most commonly strabismus, anisometropia or both, and form deprivation. The main task of amblyopia treatment is to ameliorate etiological factors to create a clear retinal image and, to ensure the participation of the amblyopic eye in the visual process. The treatment of amblyopia and eccentric fixation is usually associated with problems in the therapy. Eccentric fixation is present in around 44% of all patients with amblyopia and in 30% of patients with strabismic amblyopia. In Latvia, amblyopia is carefully treated in various clinics, but eccentricity diagnosis is relatively rare. Conflict which has developed relating to the relationship between the visual disorder and the degree of eccentric fixation in amblyopia should to be rethoughted, because it has an important bearing on the cause and treatment of amblyopia, and the role of the eccentric fixation in this case. Visuoscopy is the most frequently used method for determination of eccentric fixation. With traditional visuoscopy, a fixation target is projected onto the patient retina, and the examiner asks to look straight directly at the center of the target. An optometrist then observes the point on the macula used for fixation. This objective test provides clinicians with direct observation of the fixation point of the eye. It requires patients to voluntarily fixate the target and assumes the foveal reflex accurately demarcates the center of the foveal pit. In the end, by having a very simple method to evaluate fixation, it is possible to indirectly evaluate treatment improvement, as eccentric fixation is always associated with reduced visual acuity. So, one may expect that if eccentric fixation in amlyopic eye is found with visuoscopy, then visual acuity should be less than 1.0 (in decimal units). With occlusion or another amblyopia therapy, one would expect both visual acuity and fixation to improve simultaneously, that is fixation would become more central. Consequently, improvement in fixation pattern by treatment is an indirect measurement of improvement of visual acuity. Evaluation of eccentric fixation in the child may be helpful in identifying amblyopia in children prior to measurement of visual acuity. This is very important because the earlier amblyopia is diagnosed – the better the chance of improving visual acuity.Keywords: amblyopia, eccentric fixation, visual acuity, visuoscopy
Procedia PDF Downloads 158386 Insight into the Visual Attentional Correlates Underpinning Autistic-Like Traits in Fragile X and Down Syndrome
Authors: Jennifer M. Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael S. C. Thomas
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Genetic syndrome groups that feature high rates of autism comorbidity, like Down syndrome (DS) and fragile X syndrome (FXS), have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in important ways from the idiopathic or ‘non-syndromic’ autism phenotype. To uncover the true nature of these comorbidities, it is necessary to extend definitions of autism to include the cognitive characteristics of the disorder and to then apply this broadened conceptualisation to the study of syndromic autism profiles. The current study employs a variety of well-established eye-tracking paradigms to assess visual attentional performance in children with DS and FXS who reach thresholds for autism on the Social Communication Questionnaire. It investigates whether autism profiles in these children are accompanied by visual orienting difficulties (‘sticky attention’), decreased social attention, and enhanced visual search performance, all of which are characteristic of the idiopathic autism phenotype. Data is collected from children with DS and FXS aged between 6 and 10 years, in addition to two control groups matched on age and intellectual ability (i.e., children with idiopathic autism and neurotypical controls). Cross-sectional developmental trajectory analyses are conducted to enable visuo-attentional profile comparisons. Significant differences in the visuo-attentional processes underpinning autism presentations in children with FXS and DS are hypothesised, supporting notions of syndrome specificity. The study provides insight into the complex heterogeneity associated with syndromic autism presentations and autism per se, with clinical implications for the utility of autism intervention programmes in DS and FXS populations.Keywords: autism, down syndrome, fragile X syndrome, eye tracking
Procedia PDF Downloads 239385 Clinical Evaluation of Neutrophil to Lymphocytes Ratio and Platelets to Lymphocytes Ratio in Immune Thrombocytopenic Purpura
Authors: Aisha Arshad, Samina Naz Mukry, Tahir Shamsi
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Background: Immune thrombocytopenia (ITP) is an autoimmune disorder. Besides platelets counts, immature platelets fraction (IPF) can be used as tool to predict megakaryocytic activity in ITP patients. The clinical biomarkers like Neutrophils to lymphocytes ratio (NLR) and platelet to lymphocytes ratio(PLR) predicts inflammation and can be used as prognostic markers.The present study was planned to assess the ratios in ITP and their utility in predicting prognosis after treatment. Methods: A total of 111 patients of ITP with same number of healthy individuals were included in this case control study during the period of January 2015 to December 2017.All the ITP patients were grouped according to guidelines of International working group of ITP. A 3cc blood was collected in EDTA tube and blood parameters were evaluated using Sysmex 1000 analyzer.The ratios were calculated by using absolute counts of Neutrophils,Lymphocytes and platelets.The significant (p=<0.05) difference between ITP patients and healthy control groups was determined by Kruskal wallis test, Dunn’s test and spearman’s correlation test was done using SPSS version 23. Results: The significantly raised total leucocytes counts (TLC) and IPF along with low platelets counts were observed in ITP patients as compared to healthy controls.In ITP groups,very low platelet count with median and IQR of 2(3.8)3x109/l with highest mean and IQR IPF 25.4(19.8)% was observed in newly diagnosed ITP group. The NLR was high with prognosis of disease as higher levels were observed in P-ITP. The PLR was significantly low in ND-ITP ,P-ITP, C-ITP, R-ITP and compared to controls with p=<0.001 as platelet were less in number in all ITP patients. Conclusion: The IPF can be used in evaluation of bone marrow response in ITP. The simple, reliable and calculated NLR and PLR ratios can be used in predicting prognosis and response to treatment in ITP and to some extend the severity of disease.Keywords: neutrophils, platelets, lymphocytes, infection
Procedia PDF Downloads 95384 Auditory and Visual Perceptual Category Learning in Adults with ADHD: Implications for Learning Systems and Domain-General Factors
Authors: Yafit Gabay
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Attention deficit hyperactivity disorder (ADHD) has been associated with both suboptimal functioning in the striatum and prefrontal cortex. Such abnormalities may impede the acquisition of perceptual categories, which are important for fundamental abilities such as object recognition and speech perception. Indeed, prior research has supported this possibility, demonstrating that children with ADHD have similar visual category learning performance as their neurotypical peers but use suboptimal learning strategies. However, much less is known about category learning processes in the auditory domain or among adults with ADHD in which prefrontal functions are more mature compared to children. Here, we investigated auditory and visual perceptual category learning in adults with ADHD and neurotypical individuals. Specifically, we examined learning of rule-based categories – presumed to be optimally learned by a frontal cortex-mediated hypothesis testing – and information-integration categories – hypothesized to be optimally learned by a striatally-mediated reinforcement learning system. Consistent with striatal and prefrontal cortical impairments observed in ADHD, our results show that across sensory modalities, both rule-based and information-integration category learning is impaired in adults with ADHD. Computational modeling analyses revealed that individuals with ADHD were slower to shift to optimal strategies than neurotypicals, regardless of category type or modality. Taken together, these results suggest that both explicit, frontally mediated and implicit, striatally mediated category learning are impaired in ADHD. These results suggest impairments across multiple learning systems in young adults with ADHD that extend across sensory modalities and likely arise from domain-general mechanisms.Keywords: ADHD, category learning, modality, computational modeling
Procedia PDF Downloads 47383 Psychological Alarm among Individuals Suffering from Irritable Bowel Syndrome
Authors: Selim A., Albasher N., Bakrmom G., Alanzi S.
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Irritable bowel syndrome (IBS) is a chronic functional bowel disorder characterized by abdominal discomfort or pain and associated with alteration in frequency and/or form of bowel habit among other symptoms. This diagnosis is associated with increased levels of psychological distress, maladaptive coping, genetic risk factors, abnormal small and colonic intestine transit, change in stool frequency or form and abdominal discomfort or pain. Aim: The aim of the study was to assess psychological alarm among individuals suffering from Irritable Bowel Syndrome (IBS). Methods: A cross-sectional correlational research design was used to conduct the current study. A convenience sample of 504 participants was included in the present study. Data were collected using a self-report questionnaire. The questionnaire included socio-demographic data, ROME III to identify Irritable Bowel Syndrome (IBS) and Psychological Alarm Questionnaire. Results: Out of 504 participants who reported abdominal discomfort, 297 (58.9 %) participants met the diagnostic criteria of IBS. The mean age of the IBS participants was 30.16 years, females composed 75.1% of the IBS participants, and 55.2% did not seek medical help. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals when compared to individuals not suffering from IBS. Psychological alarms such as feeling anxious, feeling depressed, having suicidal ideations, bodily pain, having impaired functioning due to pain and feeling unable to cope with pain were significantly high among IBS individuals compared to individuals not suffering from IBS. Conclusion: IBS is highly associated with significant psychological alarms including depression, anxiety and suicidal ideas.Keywords: abdominal pain , irritable bowel syndrome, distress, psychological alarms
Procedia PDF Downloads 189382 Psychical Impacts of Episiotomy: First Results
Authors: Clesse C., Lighezzolo-Alnot J., De Lavergne S.
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Considered as the most common surgical procedure worldwide, episiotomy can be defined as an incision around the vulva performed to enlarge it, in the aim of preventing the traumatic rupture of the perineum during childbirth. Rather mediatized, this practice raises many questions in the field of mental health, relayed by different users and health professionals. Today, is topicality is moderately hectic since many queries about the prophylactic exercise of episiotomy are subject to a relative consensus, particularly since WHO advocated in 1996 that only 10% of childbirths should involve an episiotomy. This indicator appeared after the publication of numerous results from randomized clinical trials. Unfortunately, these papers seem mostly centered about somatic impacts of episiotomy. From the side of psychological studies, they mostly integrate a major clinical methodological bias, especially considering that every primiparous woman is identical to the others face to the experience of parturition. In the aim to fill this lack of knowledge, we developed a longitudinal research starting in the 7th month of pregnancy and ending one year after delivery. We are studying in a comparative way different possible psychological consequences inherent to the use of episiotomy. To do this, we use a standardized methodology which combines semi-structured clinical interviews (IRMAG, IRMAN ...), free clinical interviews, a projective test (Rorschach) and five questionnaires (QIC, EPDS, CPQ WOMBLSQ4, SF36). Therefore, we can comprehend with shrewdness the question of psychic impacts of episiotomy in a qualitative and quantitative way by comparing it to other obstetric interventions. In this paper, we will present the first results obtained about a population of twenty-two primiparous women by focusing on body image, sexuality, quality of life, depressive affects, post-traumatic stress disorder and investment of the maternal role. Finally, we will consider the different implications and perspectives of this research which could improve the public health policies in the field of perinatal care.Keywords: assessment, episiotomy, mental health, psychical impacts
Procedia PDF Downloads 362381 A Cognitive Behavioural Therapy (CBT) Intervention Programme for Excessive Internet Use among Young Adults
Authors: Ke Guek Nee, Wong Siew Fan, Nigel V. Marsh
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Excessive use of the Internet has become a cause for concern in many countries, including Malaysia. Such behaviour is reported to be more prevalent amongst young adults who are reported to be spending large amount of time on the Internet. The present study has three objectives. First one is designing a manual-based Cognitive Behavioural Therapy (CBT) programme to reduce problematic Internet use among young adults in Malaysia. Second one is examining the effectiveness of a manual-based CBT programme at the pilot study stage. Thirdly, the programme focuses on reducing the level of stress and anxiety in problematic Internet users. We adopted CBT with single subject experimental design method. A total of six participants completed the entire program. They were asked to report their daily Internet use and software was installed on their devices to record actual use. The data collection involved three time frame measurements: T1 (baseline), T2 (immediately during the last session of the intervention sessions), and T3 (follow-up). Three scales were used to measure the effectiveness of the program: Depression, Anxiety, Stress Scales (DASS), Social Interaction Anxiety Scale (SIAS), and Problematic Internet Use Questionnaire (PIUQ). The results revealed that the intervention programme has significantly improved two dimensions of problematic Internet use which were obsession and control disorder. The participants’ mental health also showed a deduction in means scores for depression, anxiety and stress with depression showing the greatest improvement after the intervention programme. The participants’ social anxiety showed a slight deduction in means scores. We concluded that the intervention programme designed was effective. However, its limitations need to be addressed in future research.Keywords: excessive internet use, cognitive behavioral thearapy (CBT), psychological well-being, young adults
Procedia PDF Downloads 453380 Bioinformatics Approach to Support Genetic Research in Autism in Mali
Authors: M. Kouyate, M. Sangare, S. Samake, S. Keita, H. G. Kim, D. H. Geschwind
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Background & Objectives: Human genetic studies can be expensive, even unaffordable, in developing countries, partly due to the sequencing costs. Our aim is to pilot the use of bioinformatics tools to guide scientifically valid, locally relevant, and economically sound autism genetic research in Mali. Methods: The following databases, NCBI, HGMD, and LSDB, were used to identify hot point mutations. Phenotype, transmission pattern, theoretical protein expression in the brain, the impact of the mutation on the 3D structure of the protein) were used to prioritize selected autism genes. We used the protein database, Modeller, and clustal W. Results: We found Mef2c (Gly27Ala/Leu38Gln), Pten (Thr131IIle), Prodh (Leu289Met), Nme1 (Ser120Gly), and Dhcr7 (Pro227Thr/Glu224Lys). These mutations were associated with endonucleases BseRI, NspI, PfrJS2IV, BspGI, BsaBI, and SpoDI, respectively. Gly27Ala/Leu38Gln mutations impacted the 3D structure of the Mef2c protein. Mef2c protein sequences across species showed a high percentage of similarity with a highly conserved MADS domain. Discussion: Mef2c, Pten, Prodh, Nme1, and Dhcr 7 gene mutation frequencies in the Malian population will be very informative. PCR coupled with restriction enzyme digestion can be used to screen the targeted gene mutations. Sanger sequencing will be used for confirmation only. This will cut down considerably the sequencing cost for gene-to-gene mutation screening. The knowledge of the 3D structure and potential impact of the mutations on Mef2c protein informed the protein family and altered function (ex. Leu38Gln). Conclusion & Future Work: Bio-informatics will positively impact autism research in Mali. Our approach can be applied to another neuropsychiatric disorder.Keywords: bioinformatics, endonucleases, autism, Sanger sequencing, point mutations
Procedia PDF Downloads 83379 Curcumin Derivatives as Potent Inhibitors of Inducible Nitric Oxide Synthase in Osteoarthritis: A Molecular Docking Study
Authors: F. Ambreen, A.Naheed
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Osteoarthritis (OA) is a degenerative disorder affecting millions of people worldwide. Nitric oxide (NO) was found to play a catabolic role in the development of osteoarthritis. It is a toxic free radical gas generated during the metabolism of L-arginine by the enzyme Nitric oxide synthase (NOS). Inducible Nitric Oxide Synthase (iNOS) is one of the isoform of NOS, and its overexpression leads to the excessive formation of NO that results in pathophysiological joint conditions. Several synthetic anti-inflammatory drugs and inhibitors are present to date, but all showed side effects and complications. Therefore, the pursuit of natural disease-modifying drugs remains a top priority. Curcumin is an active component of turmeric, and the past few decades have witnessed intense research devoted to the antioxidant and anti-inflammatory properties of curcumin. The present study focused on curcumin and its derivatives in the search for new iNOS inhibitors for the treatment of osteoarthritis. We conducted a molecular docking study on curcumin and its four derivatives; cyclocurcumin, tetrahydrocurcumin, demethoxycurcumin and curcumin monoglucoside with iNOS using CLC Drug discovery work bench 3.02. We selected two co-crystallized ligands for this study; tetrahydrobiopterin and N-omega-propyl-L-arginine present in complex with the enzyme iNOS. Results showed the best binding affinity of N-omega-propyl-L-arginine with cyclocurcumin and curcumin monoglucoside that exhibit binding energies of -65.2 kcal/mol and -68 kcal/mol respectively. Whereas with tetrahydrobiopterin, best binding scores of -64.7 kcal/mol and -62.2 kcal/mol were found with tetrahydrocurcumin and demethoxycurcumin respectively. This information could open doors of research for the designing of novel drugs using herbs such as curcumin for the treatment of inflammatory joint diseases.Keywords: curcumin, iNOS, molecular docking, osteoarthritis
Procedia PDF Downloads 129