Search results for: management and developmental disorders
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 10784

Search results for: management and developmental disorders

10514 Functional Profiling of a Circular RNA from the Huntingtin (HTT) Gene

Authors: Laura Gantley, Vanessa M. Conn, Stuart Webb, Kirsty Kirk, Marta Gabryelska, Duncan Holds, Brett W. Stringer, Simon J. Conn

Abstract:

Trinucleotide repeat disorders comprise ~20 severe, inherited human neuromuscular and neurodegenerative disorders, which are a result of an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington’s disease, results from the expansion of the CAG repeat region in exon 1 of the HTT gene via an unknown mechanism. Non-coding RNAs have been implicated in the initiation and progression of many diseases; thus, we focus on one circular RNA (circRNA) molecule arising from non-canonical splicing (back splicing) of HTT pre-mRNA. This circRNA and its mouse orthologue were transgenically overexpressed in human cells (SHSY-5Y and HEK293T) and mouse cells (Mb1), respectively. High-content imaging and flow cytometry demonstrated the overexpression of this circRNA reduces cell proliferation, reduces nuclear size independent of cellular size, and alters cell cycle progression. Analysis of protein by western blot and immunofluorescence demonstrated no change to HTT protein levels but altered nuclear-cytoplasmic distribution without impacting the expansion of the HTT repeat region. As these phenotypic and genotypic changes are found in Huntington’s disease patients, these results may suggest that this circRNA may play a functional role in the progression of Huntington’s disease.

Keywords: cell biology, circular RNAs, Huntington’s disease, molecular biology, neurodegenerative disorders

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10513 In Vitro Fermentation Of Rich In B-glucan Pleurotus Eryngii Mushroom: Impact On Faecal Bacterial Populations And Intestinal Barrier In Autistic Children

Authors: Georgia Saxami, Evangelia N. Kerezoudi, Evdokia K. Mitsou, Marigoula Vlassopoulou, Georgios Zervakis, Adamantini Kyriacou

Abstract:

Autism Spectrum Disorder (ASD) is a complex group of developmental disorders of the brain, characterized by social and communication dysfunctions, stereotypes and repetitive behaviors. The potential interaction between gut microbiota (GM) and autism has not been fully elucidated. Children with autism often suffer gastrointestinal dysfunctions, while alterations or dysbiosis of GM have also been observed. Treatment with dietary components has been postulated to regulate GM and improve gastrointestinal symptoms, but there is a lack of evidence for such approaches in autism, especially for prebiotics. This study assessed the effects of Pleurotus eryngii mushroom (candidate prebiotic) and inulin (known prebiotic compound) on gut microbial composition, using faecal samples from autistic children in an in vitro batch culture fermentation system. Selected members of GM were enumerated at baseline (0 h) and after 24 h fermentation by quantitative PCR. After 24 h fermentation, inulin and P. eryngii mushroom induced a significant increase in total bacteria and Faecalibacterium prausnitzii compared to the negative control (gut microbiota of each autistic donor with no carbohydrate source), whereas both treatments induced a significant increase in levels of total bacteria, Bifidobacterium spp. and Prevotella spp. compared to baseline (t=0h) (p for all <0.05). Furthermore, this study evaluated the impact of fermentation supernatants (FSs), derived from P. eryngii mushroom or inulin, on the expression levels of tight junctions’ genes (zonulin-1, occludin and claudin-1) in Caco-2 cells stimulated by bacterial lipopolysaccharides (LPS). Pre-incubation of Caco-2 cells with FS from P. eryngii mushroom led to a significant increase in the expression levels of zonulin-1, occludin and claudin-1 genes compared to the untreated cells, the cells that were subjected to LPS and the cells that were challenged with FS from negative control (p for all <0.05). In addition, incubation with FS from P. eryngii mushroom led to the highest mean expression values for zonulin-1 and claudin-1 genes, which differed significantly compared to inulin (p for all <0.05). Overall, this research highlighted the beneficial in vitro effects of P. eryngii mushroom on the composition of GM of autistic children after 24 h of fermentation. Also, our data highlighted the potential preventive effect of P. eryngii FSs against dysregulation of the intestinal barrier, through upregulation of tight junctions’ genes associated with the integrity and function of the intestinal barrier. This research has been financed by "Supporting Researchers with Emphasis on Young Researchers - Round B", Operational Program "Human Resource Development, Education and Lifelong Learning."

Keywords: gut microbiota, intestinal barrier, autism spectrum disorders, Pleurotus Eryngii

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10512 The Negative Impact of the SARS-CoV-2 Pandemic on Maternal and Child Health, Considering Maternal Experiences of Abuse and Neglect in Childhood

Authors: Franziska Köhler-Dauner, Inka Mayer, Lara Hart, Ute Ziegenhain, Jörg M. Fegert

Abstract:

Preventive isolation and social distancing strategies during the SARS-CoV-2 pandemic have confronted families with a variety of different restrictions and stresses. Especially during this stressful time, children need a stable parental home to avoid developmental disorders. Additional risk factors such as maternal childhood abuse and neglect (CM) experiences may influence mothers' psychosomatic health (pG) and children's physical well-being (kW) during times of increased stress. Our aim was to analyse the interaction between maternal CM, maternal pG and children's kW during the pandemic. Mothers from a well-documented birth cohort to study transgenerational transmission of CM, were included in an online 'pandemic' survey assessing maternal pG and children's physical health during the pandemic. Our mediation analysis showed a significant positive association between the extent of maternal CM experiences, mothers' psychosomatic symptoms and their children's kW. Maternal psychosomatic symptoms significantly mediate the interaction between CM and children's kW; the direct effect remains non-significant when maternal psychosomatic symptoms are included as mediators. Maternal CM appears to be a relevant risk factor for maternal pG and children's kW during the pandemic. Maternal CM experiences seem to influence the way parents cope with stressful situations and increase the risk of suffering from depressive symptoms. The latter also affect their children's kW. Our findings underline the importance of carefully assessing the specific situation of families with children and offering individually adapted help to help families survive the pandemic.

Keywords: pandemic, maternal health, child health, abuse, neglect, maternal experiences

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10511 Perfectionism, Self-Compassion, and Emotion Dysregulation: An Exploratory Analysis of Mediation Models in an Eating Disorder Sample

Authors: Sarah Potter, Michele Laliberte

Abstract:

As eating disorders are associated with high levels of chronicity, impairment, and distress, it is paramount to evaluate factors that may improve treatment outcomes in this group. Individuals with eating disorders exhibit elevated levels of perfectionism and emotion dysregulation, as well as reduced self-compassion. These variables are related to eating disorder outcomes, including shape/weight concerns and psychosocial impairment. Thus, these factors may be tenable targets for treatment within eating disorder populations. However, the relative contributions of perfectionism, emotion dysregulation, and self-compassion to the severity of shape/weight concerns and psychosocial impairment remain largely unexplored. In the current study, mediation analyses were conducted to clarify how perfectionism, emotion dysregulation, and self-compassion are linked to shape/weight concerns and psychosocial impairment. The sample was comprised of 85 patients from an outpatient eating disorder clinic. The patients completed self-report measures of perfectionism, self-compassion, emotion dysregulation, eating disorder symptoms, and psychosocial impairment. Specifically, emotion dysregulation was assessed as a mediator in the relationships between (1) perfectionism and shape/weight concerns, (2) self-compassion and shape/weight concerns, (3) perfectionism and psychosocial impairment, and (4) self-compassion and psychosocial impairment. It was postulated that emotion dysregulation would significantly mediate relationships in the former two models. An a priori hypothesis was not constructed in reference to the latter models, as these analyses were preliminary and exploratory in nature. The PROCESS macro for SPSS was utilized to perform these analyses. Emotion dysregulation fully mediated the relationships between perfectionism and eating disorder outcomes. In the link between self-compassion and psychosocial impairment, emotion dysregulation partially mediated this relationship. Finally, emotion dysregulation did not significantly mediate the relationship between self-compassion and shape/weight concerns. The results suggest that emotion dysregulation and self-compassion may be suitable targets to decrease the severity of psychosocial impairment and shape/weight concerns in individuals with eating disorders. Further research is required to determine the stability of these models over time, between diagnostic groups, and in nonclinical samples.

Keywords: eating disorders, emotion dysregulation, perfectionism, self-compassion

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10510 Clarifying the Possible Symptomatic Pathway of Comorbid Depression, Anxiety, and Stress Among Adolescents Exposed to Childhood Trauma: Insight from the Network Approach

Authors: Xinyuan Zou, Qihui Tang, Shujian Wang, Yulin Huang, Jie Gui, Xiangping Liu, Gang Liu, Yanqiang Tao

Abstract:

Childhood trauma can have a long-lasting influence on individuals and contribute to mental disorders, including depression and anxiety. The current study aimed to explore the symptomatic and developmental patterns of depression, anxiety, and stress among adolescents who have suffered from childhood trauma. A total of 3,598 college students (female = 1,617 (44.94%), Mean Age = 19.68, SD Age = 1.35) in China completed the Childhood Trauma Questionnaire (CTQ) and the Depression, Anxiety, and Stress Scales (DASS-21), and 2,337 participants met the selection standard based on the cut-off scores of the CTQ. The symptomatic network and directed acyclic graph (DAG) network approaches were used. The results revealed that males reported experiencing significantly more physical abuse, physical neglect, emotional neglect, and sexual abuse compared to females. However, females scored significantly higher than males on all items of DASS-21, except for “Worthless”. No significant difference between the two genders was observed in the network structure and global strength. Meanwhile, among all participants, “Down-hearted” and “Agitated” appeared to be the most interconnected symptoms, the bridge symptoms in the symptom network, as well as the most vital symptoms in the DAG network. Apart from that, “No-relax” also served as the most prominent symptom in the DAG network. The results suggested that intervention targeted at assisting adolescents in developing more adaptive coping strategies with stress and regulating emotion could benefit the alleviation of comorbid depression, anxiety, and stress.

Keywords: symptom network, childhood trauma, depression, anxiety, stress

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10509 Real-World Economic Burden of Musculoskeletal Disorders in Nigeria

Authors: F. Fatoye, C. E. Mbada, T. Gebrye, A. O. Ogunsola, C. Fatoye, O. Oyewole

Abstract:

Musculoskeletal disorders (MSDs) such as low back pain (LBP), cervical spondylosis (CSPD), sprain, osteoarthritis (OA), and post immobilization stiffness (PIS) have a major impact on individuals, health systems and society in terms of morbidity, long-term disability, and economics. This study estimated the direct and indirect costs of common MSDs in Osun State, Nigeria. A review of medical charts for adult patients attending Physiotherapy Outpatient Clinic at the Obafemi Awolowo University Teaching Hospitals Complex, Osun State, Nigeria between 2009 and 2018 was carried out. The occupational class of the patients was determined using the International Labour Classification (ILO). The direct and indirect costs were estimated using a cost-of-illness approach. Physiotherapy related health resource use, and costs of the common MSDs, including consultation fee, total fee charge per session, costs of consumables were estimated. Data were summarised using descriptive statistics mean and standard deviation (SD). Overall, 1582 (Male = 47.5%, Female = 52.5%) patients with MSDs population with a mean age of 47.8 ± 25.7 years participated in this study. The mean (SD) direct costs estimate for LBP, CSPD, PIS, sprain, OA, and other conditions were $18.35 ($17.33), $34.76 ($17.33), $32.13 ($28.37), $35.14 ($44.16), $37.19 ($41.68), and $15.74 ($13.96), respectively. The mean (SD) indirect costs estimate of LBP, CSPD, PIS, sprain, OA, and other MSD conditions were $73.42 ($43.54), $140.57 ($69.31), $128.52 ($113.46), sprain $140.57 ($69.31), $148.77 ($166.71), and $62.98 ($55.84), respectively. Musculoskeletal disorders contribute a substantial economic burden to individuals with the condition and society. The unacceptable economic loss of MSDs should be reduced using appropriate strategies. Further research is required to determine the clinical and cost effectiveness of strategies to improve health outcomes of patients with MSDs. The findings of the present study may assist health policy and decision makers to understand the economic burden of MSDs and facilitate efficient allocation of healthcare resources to alleviate the burden associated with these conditions in Nigeria.

Keywords: economic burden, low back pain, musculoskeletal disorders, real-world

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10508 Investigating Acute and Chronic Pain after Bariatric Surgery

Authors: Patti Kastanias, Wei Wang, Karyn Mackenzie, Sandra Robinson, Susan Wnuk

Abstract:

Obesity is a worldwide epidemic and is recognized as a chronic disease. Pain in the obese individual is a multidimensional issue. An increase in BMI is positively correlated with pain incidence and severity, especially in central obesity where individuals are twice as likely to have chronic pain. Both obesity and chronic pain are also associated with mood disorders. Pain is worse among obese individuals with depression and anxiety. Bariatric surgery provides patients with an effective solution for long-term weight loss and associated health problems. However, not much is known about acute and chronic pain after bariatric surgery and its contributing factors, including mood disorders. Nurse practitioners (NPs) at one large multidisciplinary bariatric surgery centre led two studies to examine acute and chronic pain and pain management over time after bariatric surgery. The purpose of the initial study was to examine the incidence and severity of acute and chronic pain after bariatric surgery. The aim of the secondary study was to further examine chronic pain, specifically looking at psychological factors that influence severity or incidence of both neuropathic and somatic pain as well as changes in opioid use. The initial study was a prospective, longitudinal study where patients having bariatric surgery at one surgical center were followed up to 6 months postop. Data was collected at 7 time points using validated instruments for pain severity, pain interference, and patient satisfaction. In the second study, subjects were followed longitudinally starting preoperatively and then at 6 months and 1 year postoperatively to capture changes in chronic pain and influencing variables over time. Valid and reliable instruments were utilized for all major study outcomes. In the first study, there was a trend towards decreased acute post-operative pain over time. The incidence and severity of chronic pain was found to be significantly reduced at 6 months post bariatric surgery. Interestingly, interference of chronic pain in daily life such as normal work, mood, and walking ability was significantly improved at 6 months postop however; this was not the case with sleep. Preliminary results of the secondary study indicate that pain severity, pain interference, anxiety and depression are significantly improved at 6 months postoperatively. In addition, preoperative anxiety, depression and emotional regulation were predictive of pain interference, but not pain severity. The results of our regression analyses provide evidence for the impact of pre-existing psychological factors on pain, particularly anxiety in obese populations.

Keywords: bariatric surgery, mood disorders, obesity, pain

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10507 Empirical Evidence to Beliefs and Perceptions on Mental Health Disorder and Substance Abuse: The Role of a Social Worker

Authors: Helena Baffoe

Abstract:

The US has developed numerous programs over the past 50 years to enhance the lives of those who suffer from mental health illnesses and substance abuse, as well as the effectiveness of their treatments. Despite these advances over the past 50 years, there hasn't been a corresponding improvement in American public attitudes and beliefs about mental health disorders and substance abuse. Highly publicized acts of violence frequently elicit comments that blame the perpetrator's perceived mental health disorder since such people are thought to be substance abusers. Despite these strong public beliefs and perception about mental disorder and substance abuse, concreate empirical evidence that entail this perception is lacking, and evidence of their effectiveness has not been integrated. A rich data was collected from Substance Abuse and Mental Health Services Administration (SAMHSA) with a hypothesis that people who are diagnosed with a mental health disorder are likely to be diagnosed with substance abuse using logit regression analysis and Instrumental Variable. It was found that depressive, anxiety, and trauma/stressor mental disorders constitute the most common mental disorder in the United States, and the study could not find statistically significant evidence that being diagnosed with these leading mental health disorders in the United States does necessarily imply that such a patient is diagnosed with substances abuse. Thus, the public has a misconception of mental health and substance abuse issues, and social workers' responsibilities are outlined in order to assist ameliorate this attitude and perception.

Keywords: mental health disorder, substance abuse, role of a social worker, evidence based research

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10506 Anti Oxidant Ayurvedic Rasyan Herbs Concept to Disease Managment

Authors: Mohammed Khalil Ur Rahman, Khanita Aammatullh

Abstract:

Rasayana is one of the eight clinical specialities of classical Ayurveda The disease preventive and health promotive approach of ‘Ayurveda’, which takes into consideration the whole body, mind and spirit while dealing with the maintenance of health, promotion of health and treating ailments is holistic and finds increasing acceptability in many regions of the world. Ancient Ayurvedic physicians had developed certain dietary and therapeutic measures to arrest/delay ageing and rejuvenating whole functional dynamics of the body system. This revitalization and rejuvenation is known as the ‘Rasayan chikitsa’ (rejuvenation therapy). Traditionally, Rasayana drugs are used against a plethora of seemingly diverse disorders with no pathophysiological connections according to modern medicine. Though, this group of plants generally possesses strong antioxidant activity, only a few have been investigated in detail. Over about 100 disorders like rheumatoid arthritis, hemorrhagic shock, CVS disorders, cystic fibrosis, metabolic disorders, neurodegenerative diseases, gastrointestinal ulcerogenesis and AIDS have been reported as reactive oxygen species mediated. In this review, the role of free radicals in these diseases has been briefly reviewed. ‘Rasayana’ plants with potent antioxidant activity have been reviewed for their traditional uses, and mechanism of antioxidant action. Fifteen such plants have been dealt with in detail and some more plants with less work have also been reviewed briefly The Rasayanas are rejuvenators, nutritional supplements and possess strong antioxidant activity. They also have antagonistic actions on the oxidative stressors, which give rise to the formation of different free radicals. Ocimum sanctum, Tinospora cordifolia, Emblica officinalis, Convolvulus pluricaulis, Centella asiatica, Bacopa monniera, Withania somnifera, Triphala rasayana, Chyawanprash, Brahma rasayana are very important rasayanas which are described in ayurveda and proved by new researches.

Keywords: rasayana, antioxidant activity, Bacopa monniera, Withania somnifera Triphala, chyawanprash

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10505 The Impact of Economic Transformation in Nigeria

Authors: Kemi Olalekan Oduntan

Abstract:

Transformation is a strong word that portends a radical, structural and basic reappraisal of the basic assumptions that underline our economic reform and developmental efforts. The challenges before government are how to move the nation away from an oil-dominated economy, institute the basics for a private sector-driven economy, build the local economy on international best practices, transform a passive oil industry to a more pro-active one and reposition the country along the lines of a more decentralized federalism. But beyond this, Nigeria is faced with management and leadership challenges to contend with building an efficient and effective polity, inspiring a shared vision, remodeling a corrupt polity, redefining the essentials of transformational leadership and creating Nigerian dream that will inspire patriotism and commitment in the citizenry.

Keywords: economic, economic growth, patriotism, polity, transformational

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10504 Factors Determining the Vulnerability to Occupational Health Risk and Safety of Call Center Agents in the Philippines

Authors: Lito M. Amit, Venecio U. Ultra, Young-Woong Song

Abstract:

The business process outsourcing (BPO) in the Philippines is expanding rapidly attracting more than 2% of total employment. Currently, the BPO industry is confronted with several issues pertaining to sustainable productivity such as meeting the staffing gap, high rate of employees’ turnover and workforce retention, and the occupational health and safety (OHS) of call center agents. We conducted a survey of OHS programs and health concerns among call center agents in the Philippines and determined the sociocultural factors that affect the vulnerability of call center agents to occupational health risks and hazards. The majority of the agents affirmed that OHS are implemented and OHS orientation and emergency procedures were conducted at employment initiations, perceived favorable and convenient working environment except for occasional noise disturbances and acoustic shock, visual, and voice fatigues. Male agents can easily adjust to the demands and changes in their work environment and flexible work schedules than female agents. Female agents have a higher tendency to be pressured and humiliated by low work performance, experience a higher incidence of emotional abuse, psychological abuse, and experience more physical stress than male agents. The majority of the call center agents had a night-shift schedule and regardless of other factors, night shift work brings higher stress to agents. While working in a call center, higher incidence of headaches and insomnia, burnout, suppressed anger, anxiety, and depressions were experienced by female, younger (21-25 years old) and those at night shift than their counterpart. Most common musculoskeletal disorders include body pain in the neck, shoulders and back; and hand and wrist disorders and these are commonly experienced by female and younger workers. About 30% experienced symptoms of cardiovascular and gastrointestinal disorders and weakened immune systems. Overall, these findings have shown the variable vulnerability by a different subpopulation of call center agents and are important in the occupational health risk prevention and management towards a sustainable human resource for BPO industry in the Philippines.

Keywords: business process outsourcing industry, health risk of call center agents, socio-cultural determinants, Philippines

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10503 Changing Emphases in Mental Health Research Methodology: Opportunities for Occupational Therapy

Authors: Jeffrey Chase

Abstract:

Historically the profession of Occupational Therapy was closely tied to the treatment of those suffering from mental illness; more recently, and especially in the U.S., the percentage of OTs identifying as working in the mental health area has declined significantly despite the estimate that by 2020 behavioral health disorders will surpass physical illnesses as the major cause of disability worldwide. In the U.S. less than 10% of OTs identify themselves as working with the mentally ill and/or practicing in mental health settings. Such a decline has implications for both those suffering from mental illness and the profession of Occupational Therapy. One reason cited for the decline of OT in mental health has been the limited research in the discipline addressing mental health practice. Despite significant advances in technology and growth in the field of neuroscience, major institutions and funding sources such as the National Institute of Mental Health (NIMH) have noted that research into the etiology and treatment of mental illness have met with limited success over the past 25 years. One major reason posited by NIMH is that research has been limited by how we classify individuals, that being mostly on what is observable. A new classification system being developed by NIMH, the Research Domain Criteria (RDoc), has the goal to look beyond just descriptors of disorders for common neural, genetic, and physiological characteristics that cut across multiple supposedly separate disorders. The hope is that by classifying individuals along RDoC measures that both reliability and validity will improve resulting in greater advances in the field. As a result of this change NIH and NIMH will prioritize research funding to those projects using the RDoC model. Multiple disciplines across many different setting will be required for RDoC or similar classification systems to be developed. During this shift in research methodology OT has an opportunity to reassert itself into the research and treatment of mental illness, both in developing new ways to more validly classify individuals, and to document the legitimacy of previously ill-defined and validated disorders such as sensory integration.

Keywords: global mental health and neuroscience, research opportunities for ot, greater integration of ot in mental health research, research and funding opportunities, research domain criteria (rdoc)

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10502 Fluoride-Induced Stress and Its Association with Bone Developmental Pathway in Osteosarcoma Cells

Authors: Deepa Gandhi, Pravin K. Naoghare, Amit Bafana, Krishnamurthi Kannan, Saravanadevi Sivanesana

Abstract:

Oxidative stress is known to depreciate normal functioning of osteoblast cells. Present study reports oxidative/inflammatory signatures in fluoride exposed human osteosarcoma (HOS) cells and its possible association with the genes involved in bone developmental pathway. Microarray analysis was performed to understand the possible molecular mechanisms of stress-mediated bone lose in HOS cells. Cells were chronically exposed with sub-lethal concentration of fluoride. Global gene expression is profiling revealed 34 up regulated and 2598 down-regulated genes, which were associated with several biological processes including bone development, osteoblast differentiation, stress response, inflammatory response, apoptosis, regulation of cell proliferation. Microarray data were further validated through qRT-PCR and western blot analyses using key representative genes. Based on these findings, it can be proposed that chronic exposure of fluoride may impair bone development via oxidative and inflammatory stress. The present finding also provides important biological clues, which will be helpful for the development of therapeutic targets against diseases related bone.

Keywords: bone, HOS cells, microarray, stress

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10501 Electroencephalogram Based Alzheimer Disease Classification using Machine and Deep Learning Methods

Authors: Carlos Roncero-Parra, Alfonso Parreño-Torres, Jorge Mateo Sotos, Alejandro L. Borja

Abstract:

In this research, different methods based on machine/deep learning algorithms are presented for the classification and diagnosis of patients with mental disorders such as alzheimer. For this purpose, the signals obtained from 32 unipolar electrodes identified by non-invasive EEG were examined, and their basic properties were obtained. More specifically, different well-known machine learning based classifiers have been used, i.e., support vector machine (SVM), Bayesian linear discriminant analysis (BLDA), decision tree (DT), Gaussian Naïve Bayes (GNB), K-nearest neighbor (KNN) and Convolutional Neural Network (CNN). A total of 668 patients from five different hospitals have been studied in the period from 2011 to 2021. The best accuracy is obtained was around 93 % in both ADM and ADA classifications. It can be concluded that such a classification will enable the training of algorithms that can be used to identify and classify different mental disorders with high accuracy.

Keywords: alzheimer, machine learning, deep learning, EEG

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10500 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

Abstract:

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

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10499 Mother-Child Attachment and Anxiety Symptoms in Middle Childhood: Differences in Levels of Attachment Security

Authors: Simran Sharda

Abstract:

There is increasing evidence that leads psychologists today to believe that the attachment formed between a mother and child plays a much more profound role in later-life outcomes than previously expected. Particularly, the fact that a link may exist between maternal attachment and the development in addition to the severity of social anxiety in middle childhood seems to be gaining ground. This research will examine and address a myriad of major issues related to the impact of mother-child attachment: behaviors of children with different levels of secure attachment, various aspects of anxiety in relation to attachment security as well as other styles of mother-child attachments, especially avoidant attachment and over-attachment. This analysis serves to compile previous literature on the subject and touch light upon a logical extension of the research. Moreover, researchers have identified links between attachment and the externalization of problem behaviors: these behaviors may later manifest as social anxiety as well as increased severity and likelihood of PTSD diagnosis (an anxiety disorder). Furthermore, secure attachment has been linked to increased health benefits, cognitive skills, emotive socialization, and developmental psychopathology.

Keywords: child development, anxiety, cognition, developmental psychopathology, mother-child relationships, maternal, cognitive development

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10498 Risperidone for the Treatment of Retentive Fecal Incontinence in Children and Adolescents: A Randomize Clinical Trial

Authors: Ghazal Zahed, Leila Tabatabaee, Amirhossein Hosseini, Somaye Fatahi

Abstract:

Functional retentive overflow incontinence (Retentive FI) is the most common cause of fecal soiling in children. Affected patients may have more problems with their parents and peer group, self-esteem issues, and more psychiatric comorbidities than the general population. Therapeutic interventions for Retentive FI and related problems and comorbid conditions are needed at the same time. Based on the clinical experiences, patients with retentive FI and comorbid psychiatric disorders, were accelerated in their treatment of fecal incontinence when they were being treated with Risperidone for their psychiatric comorbidities, therefore this study was conducted to evaluate the effect of Risperidone in the treatment of Retentive FI in children and adolescents. In this double-blind randomized clinical trial, 136 patients aged 4-18 years eligible for the study were randomly divided into two groups receiving Risperidone and placebo. About half of these patients had newly diagnosed psychiatric disorders and were drug naïve, this was considered in their division. In addition to polyethylene glycol, all the participants received family counseling and education for withholding behaviors and related behavioral interventions, and nonpharmacological interventions for psychiatric comorbidities. A significant correlation was observed between the duration of treatment with risperidone and the presence of psychiatric comorbidities (P <0.001) for diurnal fecal incontinence. Based on our findings in this study, Risperidone, used commonly for psychiatric disorders in children and adolescents, may be useful in the treatment of retentive fecal incontinence in the presence of psychiatric comorbidities, and along with other interventions.

Keywords: Retentive Fecal Incontinence, Risperidone, Treatment, Pediatric, Encopresis, Atypical Antipsychotics, Fecal Soiling

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10497 Institutional Capacity of Health Care Institutes for Diagnosis and Management of Common Genetic Diseases-a Study from a North Coastal District of Andhra Pradesh, India

Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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In India, genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. A cross-sectional survey of selected health amenities in the government health sector was conducted from 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH) and 3 referral hospitals (RH’s). From these, the existing manpower like 130 medical officers (MO’s), 254 supporting staff, 409 nursing staff (NS) and 45 lab technicians (LT’s) was examined. From the side of private health institutions, 25 corporate hospitals (CH’s), 3 medical colleges (MC’s) and 25 diagnostic laboratories (DL’s) were selected for the survey and from these, 316 MO’s, 995 NS and 254 LT’s were also reviewed. The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.

Keywords: district health system, genetic disorder, infrastructural amenities, management practices

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10496 Associations between Sleep Problems and Disordered Eating in Japanese Adolescents: A Cross-Sectional Study

Authors: Takaharu Hirai, Yuta Mitobe, Hiromi Hirai

Abstract:

Introduction: Eating disorders (ED) are serious psychiatric disorders that affect individuals, especially adolescents. It has been suggested that nonclinical ED-like characteristics are related to sleep problems. However, studies exploring the association between potential ED and sleep disorders have primarily been conducted in Europe and the United States. We conducted a survey of Japanese adolescents to investigate this claim. Method: In this cross-sectional study, 398 school-aged adolescents, aged 12–18 years old, matched for gender ratio, responded to a self-administered questionnaire survey. We used the Eating Attitudes Test-26 (EAT-26) and the Athens Insomnia Scale (AIS) to measure potential ED and sleep problems, respectively. In this study, participants with an EAT-26 total score of 0–19 points were classified as non-ED, while those with scores of 20 points or higher were classified as potential ED. Result: Of the 398 participants, 17 (4.3%) had an EAT-26 total score of 20 or higher. Among boys, the rate was 6 of 199 participants (3%), and among girls, the rate was 11 of 182 participants (6%). There were 89 participants (22.4%) with an AIS score of 6 points or higher, of which 36 (17.6%) were boys, and 53 (27.5%) were girls. Adolescents with potential ED had significantly higher rates of daytime sleep problems than those without ED. Further, while examining the types of sleep problems, adolescents with potential ED had greater problems with a sense of well-being and physical and mental functioning during the day. In contrast, no significant associations were found between potential ED and sleep initiation, awakenings during the night, early morning awakening, total sleep duration, or overall quality of sleep. Finally, nocturnal and daytime sleep scores were significantly associated with dieting, bulimia, and oral control EAT-26 sub-scores. Discussion: While Japanese adolescents with possible ED do not experience nighttime sleep problems, they do experience problems related to well-being and mental and physical functioning, which are indicators of daytime sleep problems. This may assist with early detection of disordered eating in adolescents. The study suggested that professionals working towards adolescent mental health issues need an approach that comprehensively integrates both sleep problems and potential ED.

Keywords: adolescents, potential eating disorders, sleep problems, eating attitudes test-26

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10495 Associations between Autistic and ADHD Traits and the Well-Being and Mental Health of Secondary School Students with focus on Anxiety and Depression

Authors: Japnoor Garcha, Andrew P. Smith

Abstract:

There has been a significant increase in the prevalence and estimates of neurodevelopmental disorders specially autism spectrum disorders in the last decade. The literature has seen increasing research on understanding well-being and mental health. The current studies have focused on seeing the impact of mental health and well-being in autism spectrum disorders and ADHD both with and without a diagnosis. To further understand the association and interaction of well-being and mental health with autism and ADHD a survey was given to 560 secondary school students. The survey used the well-being process questionnaire, the autism spectrum quotient, the ADHD self-report scale, and the strengths and difficulties questionnaire. The analysis conducted using SPSS showed that there was a significant correlation between anxiety, depression, AQ and ADHD. Anxiety and depression were also significantly correlated with all well-being and SDQ variables. The regression analysis showed that anxiety was significantly associated with positive well-being, negative well-being, emotional problems and prosocial behaviour whereas depression was significantly associated with positive well-being, negative well-being, physical health, flourishing, conduct problems, emotional problems and peer problems. This interaction led to the formation of a combined variable to see what impact the variables of anxiety, depression, AQ and ADHD would have coupled together. Further analysis showed that the combined variable was significantly correlated with all outcome variables. The regression analysis showed that the Combined variable was significantly correlated with emotional problems, and hyperactivity, stress, negative coping, psychological capital and sleepiness.

Keywords: AQ, adhd, sdq, well-being, combined variable

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10494 Impacts of COVID-19 on Communal Based Natural Resources Management in Newtown, Bekezela Village, Eastern Cape, South Africa

Authors: James Donald Nyamahono, Kelvin Tinashe Pikirai

Abstract:

Communal based natural resource management (CBNRM) is regarded as one of the most significant methods for sustainable natural resource conservation. This is due to the fact that it entails the engagement of local communities as well as the use of indigenous knowledge and customary conservation. The emergence of COVID-19 had a devastating impact on this sector since it has resulted in the disbandment of all collective activities, such as group gatherings, including those with a good cause. This is supported by research, which demonstrates that throughout the era of full lockdowns, the coordination of diverse activities and the sustainability of various working groups were severely harmed. This study was undertaken in the CBNRM niche to examine how COVID-19 affected this sector. Data were gathered through focus group discussions with youths, women, and the elderly active in CBNRM in Newtown, Bekezela Village, Eastern Cape. The study concluded that the sustainability of indigenous knowledge in natural resource management was endangered due to the restricted movements and community participation in developmental initiatives. The study also revealed a 'environment-community divide,' since COVID-19 hindered local communities from holding their regular conservation meetings. The research, on the other hand, discovered that there were 'secret' gatherings in which local communities attempted to adopt Afrocentric ways in which the available natural resources would provide a remedy for COVID-19.

Keywords: CBNRM, COVID-19, indigenous knowledge, South Africa

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10493 Impact of Ocean Acidification on Gene Expression Dynamics during Development of the Sea Urchin Species Heliocidaris erythrogramma

Authors: Hannah R. Devens, Phillip L. Davidson, Dione Deaker, Kathryn E. Smith, Gregory A. Wray, Maria Byrne

Abstract:

Marine invertebrate species with calcifying larvae are especially vulnerable to ocean acidification (OA) caused by rising atmospheric CO₂ levels. Acidic conditions can delay development, suppress metabolism, and decrease the availability of carbonate ions in the ocean environment for skeletogenesis. These stresses often result in increased larval mortality, which may lead to significant ecological consequences including alterations to the larval settlement, population distribution, and genetic connectivity. Importantly, many of these physiological and developmental effects are caused by genetic and molecular level changes. Although many studies have examined the effect of near-future oceanic pH levels on gene expression in marine invertebrates, little is known about the impact of OA on gene expression in a developmental context. Here, we performed mRNA-sequencing to investigate the impact of environmental acidity on gene expression across three developmental stages in the sea urchin Heliocidaris erythrogramma. We collected RNA from gastrula, early larva, and 1-day post-metamorphic juvenile sea urchins cultured at present-day and predicted future oceanic pH levels (pH 8.1 and 7.7, respectively). We assembled an annotated reference transcriptome encompassing development from egg to ten days post-metamorphosis by combining these data with datasets from two previous developmental transcriptomic studies of H. erythrogramma. Differential gene expression and time course analyses between pH conditions revealed significant alterations to developmental transcription that are potentially associated with pH stress. Consistent with previous investigations, genes involved in biomineralization and ion transport were significantly upregulated under acidic conditions. Differences in gene expression between the two pH conditions became more pronounced post-metamorphosis, suggesting a development-dependent effect of OA on gene expression. Furthermore, many differences in gene expression later in development appeared to be a result of broad downregulation at pH 7.7: of 539 genes differentially expressed at the juvenile stage, 519 of these were lower in the acidic condition. Time course comparisons between pH 8.1 and 7.7 samples also demonstrated over 500 genes were more lowly expressed in pH 7.7 samples throughout development. Of the genes exhibiting stage-dependent expression level changes, over 15% of these diverged from the expected temporal pattern of expression in the acidic condition. Through these analyses, we identify novel candidate genes involved in development, metabolism, and transcriptional regulation that are possibly affected by pH stress. Our results demonstrate that pH stress significantly alters gene expression dynamics throughout development. A large number of genes differentially expressed between pH conditions in juveniles relative to earlier stages may be attributed to the effects of acidity on transcriptional regulation, as a greater proportion of mRNA at this later stage has been nascent transcribed rather than maternally loaded. Also, the overall downregulation of many genes in the acidic condition suggests that OA-induced developmental delay manifests as suppressed mRNA expression, possibly from lower transcription rates or increased mRNA degradation in the acidic environment. Further studies will be necessary to determine in greater detail the extent of OA effects on early developing marine invertebrates.

Keywords: development, gene expression, ocean acidification, RNA-sequencing, sea urchins

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10492 Guillain Barre Syndrome in Children

Authors: A. Erragh, K. Amanzoui, M. Elharit, H. Salem, M. Ababneh, K. Elfakhr, S. Kalouch, A. Chlilek

Abstract:

Guillain-Barre syndrome (GBS) is the most common form of acute polyradiculoneuritis (PRNA). It is a medical emergency in pediatrics that requires rapid diagnosis and immediate assessment of the severity criteria for the implementation of appropriate treatment. Retrospective, descriptive study in 24 patients under the age of 18 who presented with GBS between September 2017 and July 2021 and were hospitalized in the multipurpose pediatric intensive care unit of the Abderrahim EL Harouchi children's hospital in Casablanca. The average age was 7.91 years, with extremes ranging from 18 months and 14 years and a male predominance of 75%. After a prodromal event, most often infectious (80%) and a free interval of 12 days on average, 2 types of motor disorders begin either hypo or arereflectic flaccid paralysis of the lower limbs (45.8%) or flaccid quadriplegia hypo or arereflectic (54.2%). During GBS, the most formidable complication is respiratory distress, which can occur at any time. In our study, respiratory impairment was observed in 70.8% of cases. In addition, other signs of severity, such as swallowing disorders (75%) and dysautonomic disorders (8.33%), were also observed, which justified care in the intensive care unit for all of our patients. The use of invasive ventilation was necessary in 76.5% of cases, and specific treatments based on immunoglobulins were administered in all our patients. Despite everything, the death rate remains high (25%) and is mainly due to complications related to hospitalization. Guillain Barré syndrome is, therefore, a pediatric emergency that requires rapid diagnosis and immediate assessment of severity criteria for the implementation of appropriate treatment.

Keywords: guillain barre syndrome, emergency, children, medical

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10491 Determinants of Psychological Distress in Teenagers and Young Adults Affected by Cancer: A Systematic Review

Authors: Anna Bak-Klimek, Emily Spencer, Siew Lee, Karen Campbell, Wendy McInally

Abstract:

Background & Significance: Over half of Teenagers and Young Adults (TYAs) say that they experience psychological distress after cancer diagnosis and TYAs with cancer are at higher risk of developing distress compared to other age groups. Despite this there are no age-appropriate interventions to help TYAs manage distress and there is a lack of conceptual understanding of what causes distress in this population group. This makes it difficult to design a targeted, developmentally appropriate intervention. This review aims to identify the key determinants of distress in TYAs affected by cancer and to propose an integrative model of cancer-related distress for TYAs. Method: A literature search was performed in Cochrane Database of Systematic Reviews, MEDLINE, PsycINFO, CINAHL, EMBASE and PsycArticles in May-June, 2022. Quantitative literature was systematically reviewed on the relationship between psychological distress experienced by TYAs affected by cancer and a wide range of factors i.e. individual (demographic, psychological, developmental, and clinical factors) and contextual (social/environmental) factors. Evidence was synthesized and correlates were categorized using the Biopsychosocial Model. The full protocol is available from PROSPERO (CRD42022322069) Results: Thirty eligible quantitative studies met criteria for the review. A total of twenty-six studies were cross-sectional, three were longitudinal and one study was a case control study. The evidence on the relationship between the socio-demographic, illness and treatment-related factors and psychological distress is inconsistent and unclear. There is however consistent evidence on the link between psychological factors and psychological distress. For instance, the use of cognitive and defence coping, negative meta-cognitive beliefs, less optimism, a lack of sense of meaning and lower resilience levels were significantly associated with higher psychological distress. Furthermore, developmental factors such as poor self-image, identity issues and perceived conflict were strongly associated with higher distress levels. Conclusions: The current review suggests that psychological and developmental factors such as ineffective coping strategies, poor self-image and identity issues may play a key role in the development of psychological distress in TYAs affected by cancer. The review proposes a Positive Developmental Psychology Model of Distress for Teenagers and Young Adults affected by cancer. The review highlights that implementation of psychological interventions that foster optimism, improve resilience and address self-image may result in reduced distress in TYA’s with cancer.

Keywords: cancer, determinant, psychological distress, teenager and young adult, theoretical model

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10490 Factors Affecting the Success of Premarital Screening Service in Middle Eastern Islamic Countries

Authors: Wafa Al Jabri

Abstract:

Background: In Middle Eastern Islamic Countries (MEICs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern, especially with the increase in affected populations along with the associated psychological, social, and financial cost of management. Despite the availability of premarital screening services (PSS) that aim to identify the asymptomatic carriers of GBDs and provide genetic counseling to couples in order toreduce the prevalence of these diseases; yet, the success rate of PSS is very low due to religious and socio-cultural concerns. Purpose: This paper aims to highlight the factors that affect the success of PSS in MEICs. Methods: A literature review of articles located in CINAHL, PubMed, SCOPUS, and MedLinewas carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders.” Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MEICs countries and published in the last five years were included. Studies that were not published in English were excluded. Results: Fourteen articles were included in the review. The results showed that PSS in most of the MEICs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meetitsultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, religious beliefs, availability of prenatal diagnosis and therapeutic abortion, emotional factors, and availability of genetic counseling services. However, poor public awareness, late timing of the screening, and unavailability of adequate counseling services were the most common barriers identified. Conclusion: Overcoming the identified barriers by providing effective health education programs, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling would be crucial steps to provide a framework for an effective PSS in MEICs.

Keywords: premarital screening, success, effectiveness, and genetic blood disorders

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10489 Case Study on Socio-Economic Impacts of Sustainable Trophy Hunting Programme on Local Community of Sassi-Haramosh Conservancy, Gilgit District, Pakistan

Authors: Hassan Abbas, Rehmat Ali, Muhammad Akbar

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This study has been conducted in Sassi-Haramosh conservancy District Gilgit, Gilgit-Baltistan of Pakistan, under the Conservation Leadership Programme of Fauna and Flora International. The main objectives of the study were to assess the socio-economic impact of community-based conservation in Sassi-Haramosh conservancy and identify effects of trophy hunting on the conservation of wildlife in the area. The first trophy hunting program of Astor Markhor was held in year February 21, 2015, and the second on February 21, 2016. The community received a share of 49200 USD and 52400 USD from the first and second hunting, and the total earning was 101600 USD which are Rs. 10,871,200 in Pak Rs. The amounts from the trophy hunting are being managed by the Wildlife Conservation and Social Development Organization (WCSDO) Sassi. The village-based organization WCSDO is spending 50% of the trophy hunting amount in the protection of wildlife, its habitat and other natural resources, 30% in developmental sectors of the village and 20% of the amount in the office expenses. Several developmental projects, like construction of 300 KVA hydropower stations, purchase of 8 acres of land for agriculture, potable water supply project, construction of treks, and other social welfare activities have been carried in the village utilizing the trophy hunting grant. These developmental activities have uplifted the socio-economic conditions of the conservancy. Furthermore, trophy hunting program has positive impacts on the wildlife in the area, as the population of Markhor and Ibex has been increased, results in increasing number of other carnivores in the area. The WCSDO has banned any illegal activities in the habitat of wildlife and grazing of livestock in the core habitats. The program raised the level of awareness in communities and reduced poaching, illegal hunting, cutting of shrubs and extraction of Artemisia species from the pastures.

Keywords: Markhor, trophy hunting, Sassi-Haramosh, Gilgit

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10488 Haematological Correlates of Ischemic Stroke and Transient Ischemic Attack: Lessons Learned

Authors: Himali Gunasekara, Baddika Jayaratne

Abstract:

Haematological abnormalities are known to cause Ischemic Stroke or Transient Ischemic Attack (TIA). The identification of haematological correlates plays an important role in a management and secondary prevention. The objective of this study was to describe haematological correlates of stroke and their association between stroke profile. The haematological correlates screened were Lupus Anticoagulant, Dysfibroginemia, Paroxysmal nocturnal haemoglobinurea (PNH), Sickle cell disease, Systemic Lupus Erythematosis (SLE) and Myeloploriferative Neoplasms (MPN). A cross sectional descriptive study was conducted in a sample of 152 stroke patients referred to haematology department of National Hospital of Sri Lanka for thrombophilia screening. Different tests were performed to assess each hematological correlate. Diluted Russels Viper Venom Test and Kaolin clotting time were done to assess Lupus anticoagulant. Full blood count (FBC), blood picture, Sickling test and High Performance Liquid Chromatography were the tests used for detection of Sickle cell disease. Paroxysmal nocturnal haemoglobinurea was assessed by FBC, blood picture, Ham test and Flowcytometry. FBC, blood picture, Janus Kinase 2 (V617F) mutation analysis, erythropoietin level and bone marrow examination were done to look for the Myeloproliferative neoplasms. Dysfibrinogenaemia was assessed by TT, fibrinogen antigen test, clot observation and clauss test. Anti nuclear antibody test was done to look for systemic lupus erythematosis. Among study sample, 134 patients had strokes and only 18 had TIA. The recurrence of stroke/TIA was observed in 13.2% of patients. The majority of patients (94.7%) have had radiological evidence of thrombotic event. One fourth of patients had past thrombotic events while 12.5% had family history of thrombosis. Out of haematological correlates screened, Lupus anticoagulant was the commonest haematological correlate (n=16 ) and dysfibrigonaemia(n=11 ) had the next high prevalence. One patient was diagnosed with Essential thrombocythaemia and one with SLE. None of the patients were positive for screening tests done for sickle cell disease and PNH. The Haematological correlates were identified in 19% of our study sample. Among stroke profile only presence of past thrombotic history was statistically significantly associated with haematological disorders (P= 0.04). Therefore, hematological disorders appear to be an important factor in etiological work-up of stroke patients particularly in patients with past thrombotic events.

Keywords: stroke, transient ischemic attack, hematological correlates, hematological disorders

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10487 Phenotype and Psychometric Characterization of Phelan-Mcdermid Syndrome Patients

Authors: C. Bel, J. Nevado, F. Ciceri, M. Ropacki, T. Hoffmann, P. Lapunzina, C. Buesa

Abstract:

Background: The Phelan-McDermid syndrome (PMS) is a genetic disorder caused by the deletion of the terminal region of chromosome 22 or mutation of the SHANK3 gene. Shank3 disruption in mice leads to dysfunction of synaptic transmission, which can be restored by epigenetic regulation with both Lysine Specific Demethylase 1 (LSD1) inhibitors. PMS subjects result in a variable degree of intellectual disability, delay or absence of speech, autistic spectrum disorders symptoms, low muscle tone, motor delays and epilepsy. Vafidemstat is an LSD1 inhibitor in Phase II clinical development with a well-established and favorable safety profile, and data supporting the restoration of memory and cognition defects as well as reduction of agitation and aggression in several animal models and clinical studies. Therefore, vafidemstat has the potential to become a first-in-class precision medicine approach to treat PMS patients. Aims: The goal of this research is to perform an observational trial to psychometrically characterize individuals carrying deletions in SHANK3 and build a foundation for subsequent precision psychiatry clinical trials with vafidemstat. Methodology: This study is characterizing the clinical profile of 20 to 40 subjects, > 16-year-old, with genotypically confirmed PMS diagnosis. Subjects will complete a battery of neuropsychological scales, including the Repetitive Behavior Questionnaire (RBQ), Vineland Adaptive Behavior Scales, Escala de Observación para el Diagnostico del Autismo (Autism Diagnostic Observational Scale) (ADOS)-2, the Battelle Developmental Inventory and the Behavior Problems Inventory (BPI). Results: By March 2021, 19 patients have been enrolled. Unsupervised hierarchical clustering of the results obtained so far identifies 3 groups of patients, characterized by different profiles of cognitive and behavioral scores. The first cluster is characterized by low Battelle age, high ADOS and low Vineland, RBQ and BPI scores. Low Vineland, RBQ and BPI scores are also detected in the second cluster, which in contrast has high Battelle age and low ADOS scores. The third cluster is somewhat in the middle for the Battelle, Vineland and ADOS scores while displaying the highest levels of aggression (high BPI) and repeated behaviors (high RBQ). In line with the observation that female patients are generally affected by milder forms of autistic symptoms, no male patients are present in the second cluster. Dividing the results by gender highlights that male patients in the third cluster are characterized by a higher frequency of aggression, whereas female patients from the same cluster display a tendency toward higher repetitive behavior. Finally, statistically significant differences in deletion sizes are detected comparing the three clusters (also after correcting for gender), and deletion size appears to be positively correlated with ADOS and negatively correlated with Vineland A and C scores. No correlation is detected between deletion size and the BPI and RBQ scores. Conclusions: Precision medicine may open a new way to understand and treat Central Nervous System disorders. Epigenetic dysregulation has been proposed to be an important mechanism in the pathogenesis of schizophrenia and autism. Vafidemstat holds exciting therapeutic potential in PMS, and this study will provide data regarding the optimal endpoints for a future clinical study to explore vafidemstat ability to treat shank3-associated psychiatric disorders.

Keywords: autism, epigenetics, LSD1, personalized medicine

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10486 Work-Related Musculoskeletal Disorders Among Malaysian Office Workers in Klang Valley

Authors: Mohd Fadzly Yahya, Matthew Teo Yong Chang

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Globally, the increasing life expectancy of human beings has brought more issues with non-communicable diseases, especially work-related musculoskeletal disorders (WMDs). WMSD also is one of the leading causes of health-related absence from work restricted work time in Malaysia. WMDs are cumulative disorders, resulting from repeated exposure to high or low-intensity loads over a long period. Evidence from a previous study showed that office workers in government and private sectors were showing high WRMDs prevalence in Malaysia. The objectives of this study were to determine the prevalence of MSDs among Malaysian office workers in Klang Valley and to identify the association between MSDs pain and working experience among office workers. This is a cross-sectional study focusing on officer workers in the Klang Valley area. The questionnaires consisted of the subject’s demographics, Nordic Musculoskeletal Questionnaire, and The Numeric Pain Rating Scale were distributed online via google forms to all consenting participants. The data were analyzed for descriptive analysis, parametric test, and student T-test using IBM SPSS Statistics Version 27. From a total of 244 participants, 95 (38.9%) were male and 149 (61.1%) were female. 57.8% of the total samples were government staff while private-sector workers were 42.2%. The highest MSDs prevalence was neck pain during the last 12 months which contributed to 69.3% (n=169) of total participants, which is male 38.5% (n=65) and female 61.5% (n=104). Our study revealed that female office workers have a higher prevalence of WMDs and there is a significant difference in elbow pain, wrist, and hands pain, and lower back pain across four different working experience groups. Office workers in this study were highly exposed to MSDs due to poor ergonomics implementation at the workplace. It is crucial to advocate preventative measures to employers such as workplace ergonomics and changes to work practices to reduce the incidence of MSDs cases in office settings.

Keywords: musculoskeletal disorders, pain, prevalence rate, office workers, risks

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10485 Neuro-Connectivity Analysis Using Abide Data in Autism Study

Authors: Dulal Bhaumik, Fei Jie, Runa Bhaumik, Bikas Sinha

Abstract:

Human brain is an amazingly complex network. Aberrant activities in this network can lead to various neurological disorders such as multiple sclerosis, Parkinson’s disease, Alzheimer’s disease and autism. fMRI has emerged as an important tool to delineate the neural networks affected by such diseases, particularly autism. In this paper, we propose mixed-effects models together with an appropriate procedure for controlling false discoveries to detect disrupted connectivities in whole brain studies. Results are illustrated with a large data set known as Autism Brain Imaging Data Exchange or ABIDE which includes 361 subjects from 8 medical centers. We believe that our findings have addressed adequately the small sample inference problem, and thus are more reliable for therapeutic target for intervention. In addition, our result can be used for early detection of subjects who are at high risk of developing neurological disorders.

Keywords: ABIDE, autism spectrum disorder, fMRI, mixed-effects model

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