Search results for: musculoskeletal disorders (MSDs)

Authors: Evelyn Smith, Susan Simpson

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Background: Eating disorder (ED) treatment is complicated by high rates of chronicity, comorbidity, complex personality traits and client dropout. Given these complexities, Schema Therapy (ST) has been identified as a suitable treatment option. The study primarily aims to evaluate the efficacy of group ST for the treatment of EDs. The study further evaluated the effectiveness of ST in reducing schemas and improving quality of life. Method: Participant suitability was ascertained using the Eating Disorder Examination. Following this, participants attended 90-minute weekly group sessions over 25 weeks. Groups consisted of six to eight participants and were facilitated by two psychologists, at least one of who is trained in ST. Measures were completed at pre, mid and post-treatment. Measures assessed ED symptoms, cognitive schemas, schema mode presentations, quality of life, self-compassion and psychological distress. Results: As predicted, measures of ED symptoms were significantly reduced following treatment. No significant changes were observed in early maladaptive schema severity; however, reductions in schema modes were observed. Participants did not report improvements in general quality of life measures following treatment, though improvement in psychological well-being was observed. Discussion: Overall, the findings from the current study support the use of group ST for the treatment of EDs. It is expected that lengthier treatment is needed for the reduction in schema severity. Given participant dropout was considerably low, this has important treatment implications for the suitability of ST for the treatment of EDs.

Keywords: eating disorders, schema therapy, treatment, quality of life

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Authors: Ali Mahamat

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This paper explores the application of Functional Communication Training (FCT) as an intervention to decrease maladaptive behaviors among individuals diagnosed with Intellectual Disability (ID) and Autism Spectrum Disorders (ASD) within an extensive support needs residential program. Evidence suggests that FCT can be ef ective in promoting positive behavioral changes and enhancing communication skills in this population. The prevalence of maladaptive behaviors in individuals with ID and ASD is a significant concern for caregivers and professionals in residential programs. These behaviors can include aggression, self-injury, and disruptive activities, which can impede the individual's quality of life. Functional Communication Training (FCT) has been identified as a potential solution to these challenges, providing individuals with the communication skills needed to express their needs and desires effectively. Method: A quasi-experimental design was used to investigate the effectiveness of FCT in a residential setting for individuals with ID and ASD. Participants included individuals with varying degrees of ID and ASD who exhibited maladaptive behaviors. A baseline was established for each participant's behavior before introducing FCT as an intervention. The FCT intervention involved teaching the individuals alternative, functionally equivalent communication behaviors to replace maladaptive behaviors. The training was implemented in the participants' natural environment and was incorporated into their daily routines. The intervention period lasted for six months, with follow-ups conducted at three months and six months post-intervention.Results indicated a significant decrease in maladaptive behaviors for individuals who received the FCT intervention. In addition, an enhancement in communication skills was observed, with the majority of participants demonstrating an increased ability to express their needs and desires appropriately. The findings of this study provide support for the effectiveness of FCT in reducing maladaptive behaviors in individuals with ID and ASD in a residential setting. Moreover, the study highlights the importance of incorporating functional communication skills training in the daily routines of these individuals. By providing these individuals with an effective means of communication, FCT not only reduces the occurrence of maladaptive behaviors but also improves the quality of life for these individuals. However, future research should explore the long-term effects of FCT and consider the influence of individual differences on the effectiveness of the intervention.

Keywords: functional communication training, intellectual disability, autism spectrum disorders, maladaptive behavior, residential program

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Authors: Peggy M. Randon, Lisa Randon

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

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

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Authors: Piedad Lucia Bolivar Goez, Daniel Ignacio Garzon Luna, Maria Camila Balcero Angel, Sara Carolina Martinez Roman, Daniela Natalia Polo Rivas, Sandra Liliana Rocha Guitierrez

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This article provides a critical analysis on the conception of disorders of sexual development (DSDs) within the bioethics framework. By means of analytical thought, the objective is to approach topics such as the rediscovery of the body, the reinvention of sexuality and link them to the liability that health personnel have to inform people about the options they have to decide over their health and body. The medicalization of sexed bodies in both psychosocial and anatomo-morpho-physiological dimensions from a legal standpoint were analyzed. Its also explored the gender stereotypes established by society and the role of laws in guaranteeing the right of autonomy that takes on greater relevance in DSD. Through this analysis, it was concluded that despite intersexuality having been analyzed by Colombia’s Constitutional Court, that it is stated as a fair entity, the stigmatization by society has not allowed these individuals to belong to an egalitarian context in which everyone has the same opportunities of access to the goods and services that they need. This leads individuals to hide their identity and expression of genre in order to be accepted in a set of contexts. Thus creating a vulnerability that the health system must be able to identify and in which it is necessary to intervene at a biopsychosocial level, in order to guarantee the protection of the individual within an unquestionable frame of equality and solidarity.

Keywords: disorders of sex development, gender identity, sexuality, transgender persons

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Authors: Agnieszka Nowogrodzka

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Objectives: ADHD is a neurodevelopmental disorder in which symptoms are most prominent throughout childhood. In the longer term, these symptoms, as well as the behaviour of the child, the experiences arising from the response of the community to the child's symptoms, as well as the functioning of the community itself, all contribute to the onset of secondary symptoms and subsequent outcomes of the disorder, such as crime or mental disorders. The purpose of this study is to estimate the prevalence of ADHD among Polish convicts serving a prison sentence. To that end, the study will focus on the relationship between the severity of ADHD and early childhood trauma, family relations, maladaptive cognitive schemas, as well as mental disorders. It is an attempt to assess the interdependence between ADHD, childhood experiences, and secondary outcomes. Methods: The study enrolled two groups of first-time convicts and repeat offenders aged between 21 and 65 –each of the study groups comprised 120 participants; 240 participants in total took part in the study. Participants were recruited in semi-open penal institutions in Poland (Poznań Custody Suite, Wronki Penal Institution, Iława Penal Institution). The control group comprised 110 men without criminal records aged 21 to 65. The DIVA 5.0 questionnaire was employed to identify the severity of ADHD symptoms. Other questionnaires employed in the course of the study included the Childhood Trauma Questionnaire (CTQ), The Family Adaptability and Cohesion Scale IV (FACES-IV), Young Schema Questionnaire (YSQ), and the General Health Questionnaire (GHQ-30). Results: The findings of the study in question are currently still being compiled and will be shared during the conference. The findings of a pilot study involving two cohorts of convicts (each numbering 20 men) and a control group (20 men with no criminal records) indicate a significant correlation between ADHD and the experience of early childhood trauma. The severity of ADHD also shows a correlation with the assessment of the functioning of the family, with the subjects assessing the relationships in their families more negatively than the control group. Furthermore, the severity of ADHD is also correlated with maladaptive emotional schemas manifesting in the participants. The findings also show a correlation between selected dimensions and the severity of offenses.

Keywords: ADHD, social impairments, mental disorders, early childhood traumas, criminality

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Authors: Ireen Manase Kabembo, Patrick Chanda

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Background: Substance use disorders are among the chronic conditions that affect all age groups. Worldwide, there is an increase in young people affected by SUDs, which implies that more family members are transitioning into the caregiver role. Family caregivers play a buffering role in the formal healthcare system due to their involvement in caring for persons with acute and chronic conditions in the home setting. Family carers of youth with problematic alcohol and marijuana use experience myriad challenges in managing daily care for this medically vulnerable group. In addition, the poor health-seeking behaviours of youth with SUDs characterized by eluding treatment and runaway tendencies coupled with the effects of the pandemic made caregiving a daunting task for most family caregivers. Issues such as limited and unavailable psychotropic medications, social stigma and discrimination, financial hurdles, systemic barriers in adolescent and young adult mental healthcare services, and the lack of a perceived vulnerability to Covid-19 by youth with SUDs are experiences of family caretakers. Methods: A qualitative study with 30 family caregivers of youth aged 16-24 explored their lived experiences and subjective meanings using two in-depth semi-structured interviews, a caregiving timeline, and participant observation. Findings: Results indicate that most family caregivers had challenges managing care for treatment elusive youth, let alone having them adhere to Covid-19 regulations. However, youth who utilized healthcare services and adhered to treatment regimens had positive outcomes and sustained recovery. The effects of the pandemic, such as job losses and the closure of businesses, further exacerbated the financial challenges experienced by family caregivers, making it difficult to purchase needed medications and daily necessities for the youth. The unabated stigma and discrimination of families of substance-dependent youth in Zambian communities further isolated family caregivers, leaving them with limited support. Conclusion: Since young people with SUDs have a compromised mental capacity due to the cognitive impairments that come with continued substance abuse, they often have difficulties making sound judgements, including the need to utilize SUD recovery services. Also, their tendency to not adhere to the Covid-19 pandemic requirements places them at a higher risk for adverse health outcomes in the (post) pandemic era. This calls for urgent implementation of robust youth mental health services that address prevention and recovery for these emerging adults grappling with substance use disorders. Support for their family caregivers, often overlooked, cannot be overemphasized.

Keywords: chronic care management, Covid-19 pandemic, family caregivers, youth with substance use disorders

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Authors: Omaymah Al-Otoom, Rajesh Mehta

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Introduction: Migration is an established risk factor in the development of schizophrenia and other forms of psychosis. The exposure to different social adversities, including social isolation, discrimination, and economic stress, is thought to contribute to elevated rates of psychosis in immigrants and their children. We present a case of resistant schizophrenia in an immigrant adolescent. Case: The patient is a 15-year-old male immigrant. In October 2021, the patient was admitted for irritability, suicidal ideations, and hallucinations. He was treated with Fluoxetine 10 mg daily for irritability. In November 2021, he presented with similar manifestations. Fluoxetine was discontinued, and Risperidone 1 mg at bedtime was started for psychotic symptoms. In March 2022, he presented with commanding auditory hallucinations (voices telling him that people were going to kill his father). Risperidone was gradually increased to 2.5 mg twice daily for hallucinations. The outpatient provider discontinued Risperidone and started Olanzapine 7.5 mg and Lurasidone 40 mg daily. In August 2022, he presented with worsening paranoia due to medication non-adherence. The patient had limited improvement on medications. In October 2022, the patient presented to the ED for visual hallucinations and aggression towards the family. His medications were Olanzapine 10 mg daily, Lurasidone 60 mg daily, and Haloperidol 2.5 mg twice daily. In the ED, he received multiple as-needed medications and was placed in seclusion for his aggressive behavior. The patient showed a positive response to a higher dose of Olanzapine and decreased dose of Lurasidone. The patient was discharged home in stable condition. Two days after discharge, he was brought for bizarre behavior, visual hallucinations, and homicidal ideations at school. Due to concerns for potential antipsychotic side effects and poor response, Lurasidone and Olanzapine were discontinued, and he was discharged home on Haloperidol 5 mg in the morning and 15 mg in the evening. Clozapine treatment was recommended on an outpatient basis. He has no family history of psychotic disorders. He has no history of substance use. A medical workup was done, the electroencephalogram was normal, and the urine toxicology was negative. Discussion: Our patient was on three antipsychotics at some point with no improvement in his psychotic symptoms, which qualifies as treatment-resistant schizophrenia (TRP). It is well recognized that migrants are at higher risk of different psychiatric disorders, including posttraumatic stress disorder, affective disorders, schizophrenia, and psychosis. This is thought to be related to higher exposure to traumatic life events compared to the general population. In addition, migrants are more likely to experience poverty, separation from family members, and discrimination which could contribute to mental health issues. In one study, they found that people who migrated before the age of 18 had twice the risk of psychotic disorders compared to the native-born population. It is unclear whether migration increases the risk of treatment resistance. In a Canadian study, neither ethnicity nor migrant status was associated with treatment resistance; however, this study was limited by its small sample size. There is a need to implement psychiatric prevention strategies and outreach programs through research to mitigate the risk of mental health disorders among immigrants.

Keywords: psychosis, immigrant, adolescent, treatment resistant schizophrenia

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Authors: Mehmet Yanardag, Ilker Yilmaz

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Children with autism spectrum disorders (ASD) enjoy and success the aquatic-based exercise and play skills in a pool instead of land-based exercise in a gym. Some authors also observed that many children with ASD experience more success in attaining movement skills in aquatic environment. Properties of the water and hydrodynamic principles cause buoyancy of the water and decrease effects of gravity and it leads to allow a child to practice important aquatic skills with limited motor skills. Also, some authors experience that parents liked the effects of the aquatic intervention program on children with ASD such as improving motor performance, movement capacity and learning basic swimming skills. The purpose of this study was to investigate the effects of aquatic exercise training on water orientation and underwater working capacity were measured in the pool. This study included in four male children between 5 and 7 years old with ASD and 6.25±0.5 years old. Aquatic exercise skills were applied by using one of the error less teaching which is called the 'most to least prompt' procedure during 12-week, three times a week and 60 minutes a day. The findings of this study indicated that there were improvements test results both water orientation skill and underwater working capacity of children with ASD after 12-weeks exercise training. It was seen that the aquatic exercise intervention would be affected to improve working capacity and orientation skills with the special education approaches applying children with ASD in multidisciplinary team-works.

Keywords: aquatic, autism, orientation, ASD, children

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Authors: Anastasia Schnitzer, Oliver Rehren

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Mental health has become an increasingly important topic in society in recent years, not least due to the challenges posed by the corona pandemic. Along with this, the public has become more and more aware that a lack of enlightenment and proper coping mechanisms may result in a notable risk to develop mental disorders. Yet, there are still many biases against those affected, which are further connected to issues of stigmatization and societal exclusion. One of the main strategies to combat these forms of prejudice and stigma is to induce intergroup contact. More specifically, the Intergroup Contact Theory states engaging in certain types of contact with members of marginalized groups may be an effective way to improve attitudes towards these groups. However, due to the persistent prejudice and stigmatization, affected individuals often do not dare to speak openly about their mental disorders, so that intergroup contact often goes unnoticed. As a result, many people only experience conscious contact with individuals with a mental disorder through media. As an analogy to the Intergroup Contact Theory, the Parasocial Contact Hypothesis proposes that repeatedly being exposed to positive media representations of outgroup members can lead to a reduction of negative prejudices and attitudes towards this outgroup. While there is a growing body of research on the merit of this mechanism, measurements often only consist of 'positive' or 'negative' parasocial contact conditions (or examine the valence or quality of the previous contact with the outgroup); meanwhile, more specific conditions are often neglected. The current study aims to tackle this shortcoming. By scrutinizing the potential of contemporary series as a narrative framework of high quality, we strive to elucidate more detailed aspects of beneficial parasocial contact -for the sake of reducing prejudice and stigma towards individuals with mental disorders. Thus, a two-factorial between-subject online panel study with three measurement points was conducted (N = 95). Participants were randomly assigned to one of two groups, having to watch episodes of either a series with a narrative framework of high (Quality-TV) or low quality (Continental-TV), with one-week interval in-between the episodes. Suitable series were determined with the help of a pretest. Prejudice and stigma towards people with mental disorders were measured at the beginning of the study, before and after each episode, and in a final follow-up one week after the last two episodes. Additionally, parasocial interaction (PSI), quality of contact (QoC), and transportation were measured several times. Based on these data, multivariate multilevel analyses were performed in R using the lavaan package. Latent growth models showed moderate to high increases in QoC and PSI as well as small to moderate decreases in stigma and prejudice over time. Multilevel path analysis with individual and group levels further revealed that a qualitative narrative framework leads to a higher quality of contact experience, which then leads to lower prejudice and stigma, with effects ranging from moderate to high.

Keywords: prejudice, quality of contact, parasocial contact, narrative framework

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Authors: Sadek A. Makhlouf, Hassan M. Nouh

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Bone hydatidosis is an infection in worldwide distribution. Although there is no evidence in literature on Bone Hydatid disease in Libya, we tried to present the first epidemiological study of this disease in Eastern Libya through retrospective study from 1995 to 2013. Our data were collected from 3 hospitals in Eastern Libya particularly the sheep-raising areas with total number of musculoskeletal infection cases of two thousand one hundred ninety-four (2,194). There were five (5) five cases of bone infection, four (4) of it have been diagnosed after more than three (3) months. Our study is comparable to other international study but this type of bone infection need further studies for effective control strategies for all dogs to avoid serious complications that might happened from the delay in diagnosing this type of disease.

Keywords: bone infection, hydatidosis, Eastern Libya, sheep-raising areas

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Authors: Rabson Banda

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This abstract delves into the transformative journey of Rabson Banda, a visionary leader in Zambia who has harnessed the power of photovoice, mental fitness, and entrepreneurship to combat substance use disorders in the face of limited job opportunities in Africa. Rabson's personal battle with alcohol-induced disorder serves as the foundation for his pioneering work in establishing Elevated Initiatives, a grassroots organization dedicated to empowering individuals struggling with addiction through innovative approaches. Through the lens of photovoice, Rabson Banda amplifies the voices of those affected by substance abuse, providing a platform for self-expression and healing. By intertwining mental fitness techniques and entrepreneurial skills, he equips individuals with the tools needed to break free from the cycle of addiction and chart a new path toward holistic wellness and economic independence. Rabson Banda's story embodies resilience, hope, and the unwavering belief in the transformative power of community-driven initiatives. His work not only addresses the immediate challenges of substance use disorders but also addresses the root causes of addiction by advocating for increased job opportunities and economic empowerment in Zambia and across Africa for decent job creation and Entrepreneurship: A Lived Experience of Alcohol-Induced Disorder and Recovery in Zambia.

Keywords: mental fitness, entrepreneurship, photovoice, descent jobs

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Authors: Anat Yaron Antar, Tomer Einat

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This study explores the effects of the imprisonment of women together with females with mental disorders on the well-being of the former both during imprisonment and after their release from prison. Based on in-depth interviews with 22 women ex-prisoners who had been imprisoned for a period of at least two years in the single Israeli female correctional facility, Neve Tirza Prison, and released one to three months before the initiation of the study to a community-based agency managed by the Israeli Prisoner Rehabilitation Authority, and based on a qualitative, constructive strategy. We found that: (i) mentally ill prisoners’ conduct creates severe feelings of stress and discomfort among many of the prisoners without a mental disorder prisoners; (ii) The intimate and often long-term encounters with prisoners with a mental illness lead to increased feelings of distress, helplessness, fear, and frustration among many of the women prisoners; (iii) the damaging encounters between women prisoners and mentally-ill prisoners harmed the reintegration of the formers into society after release, and (iv) The women ex-prisoners lacked the basic mental, cognitive, and social tools necessary for dealing with female inmates with a mental illness and had received no psychological or emotional support from the prison personnel. Consequently, they suffered – and still suffer – from traumatic and upsetting memories Our findings led us to conclude that women prisoners should be imprisoned separately from female prisoners with mental disorders or be offered a wide range of psychological and emotional coping tools as well as various rehabilitative treatment programs.

Keywords: women, prisoners, mentally ill, health

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Authors: Mohammed Khamis Albalushi

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Background: Somatic symptoms disorders are usually comorbid with depressive disorders despite the fact that there is little evidence for effective treatment for it. Repetitive transcranial magnetic stimulation (rTMS) has been approved by the FDA for mildly resistant depression. From this point, we hypothesized that rTMS delivered over the prefrontal cortex (PFC) may be useful in somatic symptoms disorder. Therefore, in our case report, we want to shed light on the potential effectiveness of rTMS in somatic symptoms disorder. Case Report: A 65-year-old Omani female with multiple medical comorbidities on multiple medications. She presented complaining of multiple somatic complaints in the last 2 years after visiting multiple clinics and underwent several specialists’ examinations, investigations and procedures for somatic treatments; all of them were normal. Then patient was seen by a different psychiatric clinic; multiple anti-depressant and adjuvant anti-psychotic medications were tried, patient still did not improve. The patient was admitted to the hospital for observation and management. Initially, she was preoccupied with her somatic complaint and kept on Fluoxetine and Olanzapine along with that, topiramate was added, but still with minimal improvement. Then rTMS was added to her management plan following Intermittent theta burst (iTBS) rTMS protocol. After completing all sessions of rTMS, the patient was recovering from all her symptoms, and no complaints were reported from her. Conclusion: Our case highlights the importance of investigating more thoroughly in rTMS as a treatment option for Persistent Somatic symptoms Disorder.

Keywords: rTMS, somatic symptoms disorder, resistive cases, TMS

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

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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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Authors: Mukhtar Ibrahim Bello, Ibrahim U. Aikawa, Abubakar Sadiq Muhammad, Muhammad Baballe Ahmad

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These vital signs can be tracked by wearable sensors, which can also be used to assess patients' health. As a result, they can be very beneficial to patients and healthcare professionals in the diagnosis of diseases, particularly when it comes to taking a patient's body temperature in infectious disorders.

Keywords: fire out-break, robots, saving, dangerous environments, impacts

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Authors: Adel Khorramrouz, Monireh Ahmadi Bani, Ehsan Norouzi

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Background:-Due to the essential role of the foot in movement, foot disorders (FDs) have significant impacts on activity and quality of life. Many studies confirmed the association between FDs and demographic characteristics. On the other hand, recent advances in data collection and statistical analysis led to an increase in the volume of databases. Analysis of patient’s data through the decision tree can be used to explore the relationship between demographic characteristics and FDs. Significance of the study: This study aimed to investigate the relationship between demographic characteristics with common FDs. The second purpose is to better inform foot intervention, we classify FDs based on demographic variables. Methodologies: We analyzed 2323 subjects with pes-planus (PP), pes-cavus (PC), hallux-valgus (HV) and plantar-fasciitis (PF) who were referred to a foot therapy clinic between 2015 and 2021. Subjects had to fulfill the following inclusion criteria: (1) weight between 14 to 150 kilogram, (2) height between 30 to 220, (3) age between 3 to 100 years old, and (4) BMI between 12 to 35. Medical archives of 2323 subjects were recorded retrospectively and all the subjects examined by an experienced physician. Age and BMI were classified into five and four groups, respectively. 80% of the data were randomly selected as training data and 20% tested. We build a decision tree model to classify FDs using demographic characteristics. Findings: Results demonstrated 981 subjects from 2323 (41.9%) of people who were referred to the clinic with FDs were diagnosed as PP, 657 (28.2%) PC, 628 (27%) HV and 213 (9%) identified with PF. The results revealed that the prevalence of PP decreased in people over 18 years of age and in children over 7 years. In adults, the prevalence depends first on BMI and then on gender. About 10% of adults and 81% of children with low BMI have PP. There is no relationship between gender and PP. PC is more dependent on age and gender. In children under 7 years, the prevalence was twice in girls (10%) than boys (5%) and in adults over 18 years slightly higher in men (62% vs 57%). HV increased with age in women and decreased in men. Aging and obesity have increased the prevalence of PF. We conclude that the accuracy of our approach is sufficient for most research applications in FDs. Conclusion:-The increased prevalence of PP in children is probably due to the formation of the arch of the foot at this age. Increasing BMI by applying high pressure on the foot can increase the prevalence of this disorder in the foot. In PC, the Increasing prevalence of PC from women to men with age may be due to genetics and innate susceptibility of men to this disorder. HV is more common in adult women, which may be due to environmental reasons such as shoes, and the prevalence of PF in obese adult women may also be due to higher foot pressure and housekeeping activities.

Keywords: decision tree, demographic characteristics, foot disorders, machine learning

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Authors: John Toussaint

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Objective: Our society is suffering from an epidemic of body image dissatisfaction, and related disorders appear to be increasing globally for children. There is much to indicate that children's body image and eating attitudes are being affected negatively by socio-cultural factors such as parents, peers and media. Most studies and theories, however, have focused extensively on the daughter-mother relationship. Very few studies have investigated the role of attachment to the father as an important factor in the development of girls’ and women’s attitudes towards themselves and their bodies. Recently, data have shown that the father’s parenting style, as well as the quality of the relationship with him is crucial for the understanding of the development and persistence of body image disorders. This presentation is based on samples of participants with self-defined body image dissatisfaction, and the self-reported measures of their fathers’ parental behaviours, emotional warmth, support, or protection. Attachment theory does offer support in exploring these relationships and it is used in this presentation to assist in understanding the relationship between the father and his daughter in relation to body image and mental health. Clinical implications are also offered in respect to work with body image, eating disorders and relational therapy. Methods: As awareness of the increasing frequency of body image concerns in children grows, so too does the need for a simple, valid and reliable measure of body image. The Children's Body Image Scale (CBIS) designed in Australia, depicts seven male and females figures from which children are to choose their perceived body type and ideal body type. This was compared with a range of international body mass index (BMI) reference standards. These measures together with individual one-on-one interviews were completed by 158 children aged 7-12 years. Results: A high frequency of body image dissatisfaction was indicated in the children's responses. 55% of girls and 41% of boys said they would like to be thinner, and wished for an ideal BMI figure below the 10th percentile. This is an unhealthy and unattainable level of body fatness for the majority of children when considered in relation to the reported secular trend of their increasing average body size. Thin children were generally ranked as best and perceived as kind, happy, academically skilled, and socially successful. Fat children were perceived as unintelligent, lazy, greedy, unpopular, and unable to play physical games. Conclusions: Body image ideals and fat stereotypes are well entrenched among children. There is much to indicate that children's body image and eating attitudes are being affected negatively by sociocultural factors such as parents, peers and media. Teachers and health professionals could promote intervention programs for children involving knowledge and acceptance of genetic influences on body type; the dangerous effects of weight loss dieting; the importance of physical activity and eating healthy; and scepticism and critical analysis of mass media messages.

Keywords: body image, father attachment, mental health, eating disorders

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Authors: Sule Yucelbas, Gulay Tezel, Cuneyt Yucelbas, Seral Ozsen

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In this study, it was tried to identify some heart rhythm disorders by electrocardiography (ECG) data that is taken from MIT-BIH arrhythmia database by subtracting the required features, presenting to artificial neural networks (ANN), artificial immune systems (AIS), artificial neural network based on artificial immune system (AIS-ANN) and particle swarm optimization based artificial neural network (PSO-NN) classifier systems. The main purpose of this study is to evaluate the performance of hybrid AIS-ANN and PSO-ANN classifiers with regard to the ANN and AIS. For this purpose, the normal sinus rhythm (NSR), atrial premature contraction (APC), sinus arrhythmia (SA), ventricular trigeminy (VTI), ventricular tachycardia (VTK) and atrial fibrillation (AF) data for each of the RR intervals were found. Then these data in the form of pairs (NSR-APC, NSR-SA, NSR-VTI, NSR-VTK and NSR-AF) is created by combining discrete wavelet transform which is applied to each of these two groups of data and two different data sets with 9 and 27 features were obtained from each of them after data reduction. Afterwards, the data randomly was firstly mixed within themselves, and then 4-fold cross validation method was applied to create the training and testing data. The training and testing accuracy rates and training time are compared with each other. As a result, performances of the hybrid classification systems, AIS-ANN and PSO-ANN were seen to be close to the performance of the ANN system. Also, the results of the hybrid systems were much better than AIS, too. However, ANN had much shorter period of training time than other systems. In terms of training times, ANN was followed by PSO-ANN, AIS-ANN and AIS systems respectively. Also, the features that extracted from the data affected the classification results significantly.

Keywords: AIS, ANN, ECG, hybrid classifiers, PSO

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Authors: Parvin Mirmiran, Zahra Bahadoran, Nazanin Moslehi, Fereidoun Azizi

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Background and aim: We aimed to investigate the effects of green fruits and vegetables (green FV) consumption on the 3-year changes of cardiometabolic risk factors. Methods: This longitudinal study was conducted in the framework of Tehran Lipid and Glucose Study, between 2006-2008 and 2009-2011, on 1272 adults. Dietary intake of green FV, including green cabbage, broccoli, lettuce, celery, green beans, green peas, cucumber, leafy vegetables, zucchini, green chili and bell pepper, and kiwi fruit, has been assessed by a validated semi-quantitative food frequency questionnaire at baseline and second examination. Demographics, anthropometrics and biochemical measures were evaluated at baseline and 3 years later. The associations of cardiometabolic risk changes with mean intake of green FV were estimated. Results: The mean age of men and women at baseline was 39.8±12.7 and 37.3±12.1 years, respectively. Mean intake of green FV was 152±77 g/d. More intake from green FV was accompanied to more intake of vitamin A, α and β-carotene, lutein, β-criptoxanthine, potassium, magnesium and fiber. Consumption of green FV was inversely associated with 3-year change of waist circumference (β= -0.07, P=0.01), total cholesterol (β= -0.11, P=0.01) and triglycerides (β= -0.13, P=0.01). Each 25 g/d increase in consumption of green FV decreased the incidence of hyper-triglyceridemia by 12% (OR:0.88, 95%CI:0.71-0.99) in men. In women, no significant association was observed between consumption of green FV with cardiometabolic risk factors. Conclusion: Higher consumption of green FV could have preventive effects against abdominal fat gain and lipid disorders.

Keywords: cardiometabolic risk factors, abdominal obesity, lipid disorders, fruits, vegetables

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Authors: Suphaket Saenthaweesuk, Nutiya Somparn, Atcharaporn Thewmore

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The present study aims to investigate the effects of Cymbopogon citratus, Stapf (CS) or lemon grass ethanol extract on antioxidant and vascular disorders parameters in rat. The CS ethanol extract was screened for its phytochemical contents and antioxidant activity in vitro. Moreover, the extract was studied in rats to evaluate its effects in vivo. Rats were orally administered with CS at 1,000 mg/kg/day for 30 days. Phytochemical screening of CS extract indicated the presence of tannins, flavonoids and phenolic compounds. The extract contained phenolic compounds 1,400.10 ± 0.47 mg of gallic acid equivalents per gram CS extract. The free radical scavenging activity assessed by DPPH assay gave IC50 of 168.77 ± 3.32µg/mL, which is relatively lower than that of BHT with IC50 of 12.34 ± 1.14 µg/mL. In the animals, the protein expression of antioxidant enzymes, γ-glutamylcysteine ligase (γ-GCL) in liver was significantly increased. This was consistent with elevation of serum catalase (CAT) and superoxide dismutase (SOD) activities. However, Protein expression of vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule (ICAM-1) and endothelial nitric oxide synthase (eNOS) in heart and aorta were not differenced from normal control. Taken together, the present study provides evidence that CCS water extract exhibits direct antioxidant properties and can induce cytoprotective enzymes in vivo.

Keywords: antioxidant, Cymbopogon citratus Stapf, VCAM-1, γ-glutamylcysteine ligase

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Authors: Manal Alosaimi

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Many rehabilitation strategies exist to aid persons with neurological disorders relearn motor skills through intensive training. Evidence supporting the theory that cortical areas involved in motor execution can be triggered by observing actions performed by others is attributed to the function of the mirror neuron system (MNS) indicates that activation of the MNS is associated with improvements in physical action and motor learning. Therefore, it is important to investigate the relationship between motor training (in this case, playing the drums) and the activation of the MNS. To achieve this, 15 healthy right-handed participants received drum-kit training for 21 weeks, during which time blood oxygen level-dependent (BOLD) signals were monitored in the brain using functional magnetic resonance imaging (fMRI). Participants were required to perform action–observation and action–execution fMRI tasks. The main results are that BOLD signals in classical regions of the MNS such as supramarginal gyri, inferior parietal lobule, and supplementary motor area increase significantly over the training period. Activation of these areas indicates that passive-observation of others performing these same skills may facilitate recovery of persons suffering from neurological disorders, and complement conventional rehabilitation programs that focus on action execution or intense training.

Keywords: fMRI, mirror neuron system, magnetic resonance imaging, neuroplasticity, drumming, learning, music, action observation, action execution

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Authors: Anna Słupik, Krzysztof Jaworski, Anna Mosiołek, Dariusz Białoszewski

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Background: Maintaining the correct body balance is essential in the prevention of falls in the elderly, which is especially important for women because of postmenopausal osteoporosis and the serious consequences of falls. One of the exercise methods which is very popular among adults, and which may affect body balance in a positive way is the pilates method. The aim of the study was to evaluate the effect of regular pilates exercises on the ability to maintain body balance in static conditions in adult healthy women. Material and methods: The study group consisted of 20 healthy women attending pilates twice a week for at least 1 year. The control group consisted of 20 healthy women physically inactive. Women in the age range from 35 to 50 years old without pain in musculoskeletal system or other pain were only qualified to the groups. Body balance was assessed using MatScan VersaTek platform with Sway Analysis Module based on Matscan Clinical 6.7 software. The balance was evaluated under the following conditions: standing on both feet with eyes open, standing on both feet with eyes closed, one-leg standing (separately on the right and left foot) with eyes open. Each test lasted 30 seconds. The following parameters were calculated: estimated size of the ellipse of 95% confidence, the distance covered by the Center of Gravity (COG), the size of the maximum shift in the sagittal and frontal planes and load distribution between the left and right foot, as well as between rear- and forefoot. Results: It was found that there is significant difference between the groups in favor of the study group in the size of the confidence ellipse and maximum shifts of COG in the sagittal plane during standing on both feet, both with the eyes open and closed (p < 0.05). While standing on one leg both on the right and left leg, with eyes opened there was a significant difference in favor of the study group, in terms of the size of confidence ellipse, the size of the maximum shifts in the sagittal and in the frontal plane (p < 0.05). There were no differences between the distribution of load between the right and left foot (standing with both feet), nor between fore- and rear foot (in standing with both feet or one-leg). Conclusions: 1. Static balance in women exercising regularly by pilates method is better than in inactive women, which may in the future prevent falls and their consequences. 2. The observed differences in maintaining balance in frontal plane in one-leg standing may indicate a positive impact of pilates exercises on the ability to maintain global balance in terms of the reduced support surface. 3. Pilates method can be used as a form preventive therapy for all people who are expected to have problems with body balance in the future, for example in chronic neurological disorders or vestibular problems. 4. The results have shown that further prospective randomized research on a larger and more representative group is needed.

Keywords: balance exercises, body balance, pilates, pressure distribution, women

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Authors: Dana Cassandra Winkler, Delia Leiding, Rene Bergs, Franziska Kaiser, Ramona Kirchhart, Ute Habel

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Background: Violence is a multidimensional phenomenon, affecting people of every age, socio-economic status and gender. Nevertheless, most studies primarily focus on men perpetrating women. Aim of the present study is to identify the likelihood of mental and somatic disorders and risk-taking behavior in male violence affected. In addition, the relationship between age of violence experience and the risk for health-related problems was analyzed. Method: On the basis of current evidence, a questionnaire was developed focusing on demographic background, health status, risk-taking behavior, and active and passive violence exposure. In total, 5221 males (Mean: 56,1 years, SD: 17,6) were consulted. To account for the time of violence experience in an efficient way, age clusters ‘0-12 years’, ‘13-20 years’, ‘21-35 years’, ‘36-65 years’ and ‘over 65 years’ were defined. A binary logistic regression was calculated to reveal differences in violence-affected and non-violence affected males regarding health and risk-taking factors. Males who experienced violence on a daily/ almost daily basis vs. males who reported violence occurrence once/ several times a month/ year were compared with respect to health factors and risk-taking behavior. Data of males, who indicated active and passive violence exposure, were analyzed by a chi²-analysis, to investigate a possible relation between the age of victimization and violence perpetration. Findings: Results imply that general violence experience, independent of active and passive violence exposure increases the likelihood in favor of somatic-, psychosomatic- and mental disorders as well as risk-taking behavior in males. Experiencing violence on a daily or almost daily basis in childhood and adolescence may serve as a predictor for increased health problems and risk-taking behavior. Furthermore, the violence experience and perpetration occur significantly within the same age cluster. This underlines the importance of a near-term intervention to minimize the risk, that victims become perpetrators later. Conclusion: The present study reveals predictors concerning health risk factors as well as risk-taking behavior in males with violence exposure. The results of this study may underscore the benefit of intervention and regular health care approaches in violence-affected males and underline the importance of acknowledging the overlap of violence experience and perpetration for further research.

Keywords: health disease, male, mental health, prevalence, risk-taking behavior, violence

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Authors: Wafa Al Jabri

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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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Authors: Nashalla Gwyn Nyinda

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The ancient system of Tibetan Medicine, known as Sowa Rigpa across the Himalayan regions, is a systematic system of healing encouraging balance primarily through diet and behavior modifications. With the rise of the popularity of Tibetan Medicine, compliance is critical to successful treatment outcomes. As patients learn more about who they are as individuals and how their elemental balances or imbalances affect disorders and mental-emotional balance, they develop faith and dedication to their healing process. Specifically, regarding diet and behavior and the basic principles of the medical system, patient compliance increases dramatically in all treatment areas when they understand why a treatment or dietary prescription guidance is effective. Successful responses to Tibetan treatment rely on a buy-in from the patient. Trust between the slower process of Traditional medicine treatments, the Tibetan physician and the patient is a cornerstone of treatment. The resulting decrease in the use of allopathic medicine and better health outcomes for acute and chronic disorders are well documented. This paper addresses essential points of the Tibetan Medicine system, dialogue between doctor and patient focused on appropriate and seasonal changing dietetics. Such fluctuating treatment approaches, based on external elemental factors, dramatically increase treatment outcomes. Specifically, this work addresses why allopathic medicine models may need more trust development between practitioner and patient.

Keywords: compliancy in treatment, diet and lifestyle medicine, nature and elements as medicine, seasonal diets, Sowa Rigpa, traditional Tibetan medicine, treatment outcomes

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Authors: Marc Toutain, Pascale Leconte, Antoine Gauthier

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Introduction: Eating Disorders (ED), such as anorexia, bulimia, and binge eating, are psychiatric illnesses that mostly affect young people. The main symptoms concern eating (restriction, excessive food intake) and weight control behaviors (laxatives, vomiting). Psychological comorbidities (depression, executive function disorders, etc.) and problematic behaviors toward physical activity (PA) are commonly associated with ED. Acquaintances on ED risk factors are still lacking, and more community sample studies are needed to improve prevention and early detection. To our knowledge, studies are needed to specifically investigate the link between ED risk level, PA, and psychological risk factors in a community sample of adolescents. The aim of this study is to assess the relation between ED risk level, exercise (type, frequency, and motivations for engaging in exercise), and psychological factors based on the Jacobi risk factors model. We suppose that a high risk of ED will be associated with the practice of high caloric cost PA, motivations oriented to weight and shape control, and psychological disturbances. Method: An online survey destined for students has been sent to several middle schools and colleges in northwest France. This survey combined several questionnaires, the Eating Attitude Test-26 assessing ED risk; the Exercise Motivation Inventory–2 assessing motivations toward PA; the Hospital Anxiety and Depression Scale assessing anxiety and depression, the Contour Drawing Rating Scale; and the Body Esteem Scale assessing body dissatisfaction, Rosenberg Self-esteem Scale assessing self-esteem, the Exercise Dependence Scale-Revised assessing PA dependence, the Multidimensional Assessment of Interoceptive Awareness assessing interoceptive awareness and the Frost Multidimensional Perfectionism Scale assessing perfectionism. Machine learning analysis will be performed in order to constitute groups with a tree-based model clustering method, extract risk profile(s) with a bootstrap method comparison, and predict ED risk with a prediction method based on a decision tree-based model. Expected results: 1044 complete records have already been collected, and the survey will be closed at the end of May 2022. Records will be analyzed with a clustering method and a bootstrap method in order to reveal risk profile(s). Furthermore, a predictive tree decision method will be done to extract an accurate predictive model of ED risk. This analysis will confirm typical main risk factors and will give more data on presumed strong risk factors such as exercise motivations and interoceptive deficit. Furthermore, it will enlighten particular risk profiles with a strong level of proof and greatly contribute to improving the early detection of ED and contribute to a better understanding of ED risk factors.

Keywords: eating disorders, risk factors, physical activity, machine learning

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Authors: Noor Ayuni Che Zakaria, Takashi Komeda, Cheng Yee Low, Kaoru Inoue, Fazah Akhtar Hanapiah

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Previous studies have shown that there are arguments regarding the reliability and validity of the Ashworth and Modified Ashworth Scale towards evaluating patients diagnosed with upper limb disorders. These evaluations depended on the raters’ experiences. This initiated us to develop an upper limb disorder part-task trainer that is able to simulate consistent upper limb disorders, such as spasticity and rigidity signs, based on the Modified Ashworth Scale to improve the variability occurring between raters and intra-raters themselves. By providing consistent signs, novice therapists would be able to increase training frequency and exposure towards various levels of signs. A total of 22 physiotherapists and occupational therapists participated in the study. The majority of the therapists agreed that with current therapy education, they still face problems with inter-raters and intra-raters variability (strongly agree 54%; n = 12/22, agree 27%; n = 6/22) in evaluating patients’ conditions. The therapists strongly agreed (72%; n = 16/22) that therapy trainees needed to increase their frequency of training; therefore believe that our initiative to develop an upper limb disorder training tool will help in improving the clinical education field (strongly agree and agree 63%; n = 14/22).

Keywords: upper limb disorder, clinical education tool, inter/intra-raters variability, spasticity, modified Ashworth scale

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Authors: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

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Newborn screening (NBS) is a part of routine newborn care in many countries worldwide to detect early any rare treatable conditions and inborn errors of metabolism (IEM). India has not started this program yet. In an attempt to understand the challenges in implementing a national newborn screening program in India, we initiated a pilot newborn screening project funded by the Government of Canada. Along with initiating the newborn screening at Kasturba Hospital, Manipal in South India, for screening six disorders (Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia, Biotinidase deficiency, Glucose-6-Phosphate Dehydrogenase deficiency (G-6PD) and Phenylketonurea), we also studied the awareness of various stakeholders on the newborn screening. In a period of nine months from August 2017 to March 2018 we could screen 1915 newborns (999 male and 916 female). The result showed that there were seven babies screened positive. This interim result points to an incidence rate of 1 in 270 children for these rare disorders collectively. This includes three confirmed cases of CH, two cases of G-6PD deficiency, and one case each for Galctosemia and CAH. A questionnaire based study to understand the awareness among various stakeholders revealed that there is little awareness among parents, adolescents and anganwadi workers (public health worker). The interim data points to the need for a national newborn screening programme in India. There is also an immediate need to undertake large-scale awareness programme to create knowledge on NBS among the various stakeholders.

Keywords: awareness, inborn errors of metabolism (IEM), newborn screening, rare disease

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Authors: Himali Gunasekara, Baddika Jayaratne

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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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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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