Search results for: epilepsy suffering
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 675

Search results for: epilepsy suffering

285 Gellan Gum/Gamma-Polyglutamic Acid and Glycerol Composited Membrane for Guiding Bone Regeneration

Authors: Chi-Chang Lin, Jiun-Yan Chiu

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Periodontal disease, oral cancer relating trauma is the prominent factor devastating bone tissue that is crucial to reestablishing in clinical. As we know, common symptom, osteoporosis, and infection limiting the ability of the bone tissue to recover cause difficulty before implantation therapy. Regeneration of bone tissue is the fundamental therapy before surgical processes. To promote the growth of bone tissue, many commercial products still have sophisticated problems that need to overcome. Regrettably, there is no available material which is apparently preferable for releasing and controlling of loading dosage, or mitigating inflammation. In our study, a hydrogel-based composite membrane has been prepared by using Gellan gum (GG), gamma-polyglutamic acid (γ-PGA) and glycerol with simple sol-gel method. GG is a natural material that is massively adopted in cartilage. Unfortunately, the strength of pure GG film is a manifest weakness especially under simulating body fluidic conditions. We utilize another biocompatible material, γ-PGA as cross-linker which can form tri-dimension structure that enhancing the strength. Our result indicated the strength of pure GG membrane can be obviously improved by cross-linked with γ-PGA (0.5, 0.6, 0.7, 0.8, 0.9, 1.0 w/v%). Besides, blending with glycerol (0, 1.0, 2.0, 3.0 w/v%) can significantly improve membrane toughness that corresponds to practical use. The innovative composited hydrogel made of GG, γ-PGA, and glycerol is attested with neat results including elongation and biocompatibility that take the advantage of extension covering major trauma. Recommendations are made for treatment to build up the foundation of bone tissue that would help patients to escape from the suffering and shorten the amount of time in recovery.

Keywords: bone tissue, gellan gum, regeneration, toughness

Procedia PDF Downloads 140
284 Polycystic Ovary Syndrome - Clinical Profile of Women Attending NPFDB Subfertility Clinic

Authors: Komathy Thiagarajan, Mohd. Azizuddin Mohd. Yussof, Hasnoorina Husin, Noor Azreena Abd Aziz, Faezah Shekh Abdullah, Abdul Wahaf Abdul Wahid

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Polycystic Ovary Syndrome (PCOS) presents with a plethora of clinical features owing to the multifaceted underlying pathophysiology. This study was conducted to determine the clinical features unique to the sub fertile women attending the Sub fertility Clinic of the National Population and Family Development Board (NPFDB) so that a more holistic approach can be adopted to further enhance the pregnancy outcome in those women. This was a case-control study conducted over a span of three years (from January 2014 until December 2016), whereby women who fulfilled the Rotterdam Criteria 2004 were classified as PCOS (n=79) and women who did not fulfill the Rotterdam Criteria were classified as controls (n=88). The mean age of the women was 30.1 years and the mean duration of marriage was 3.93 years. The majority of women suffered from primary sub fertility (82.6%). The median age was lower among PCOS women (29.0 years) compared to the controls (30.0 years), p<0.05. The majority of PCOS women (43.0%) were obese (BMI > 30 kg/m2) compared to only 19.3% who were obese in the control group, p<0.05. Hypertension was present in 59.5% of PCOS women and only in 36.4% of the control group, p<0.05. There were significantly more women who presented with hirsutism in PCOS group (27.8%) as compared to the control group (5.7%), p<0.05. The findings of this study elucidate that the clinical features of significance among sub fertile women suffering from PCOS, if detected early, are amenable to lifestyle modifications and timely interventions can potentially improve the fertility outcomes in this group of women.

Keywords: clinical features, fertility, lifestyle modification, PCOS

Procedia PDF Downloads 141
283 Debating the Role of Patriarchy in the Incidence of Gender-Based Violence in Jordan: Systematic Review of the Literature

Authors: Nour Daoud

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Patriarchy continues to thrive in Jordan where male-controlled values are still entrenched in a society that is suffering from upsetting percentages of Gender-based Violence (GBV). This paper is a systematic review of the literature with an attempt to evaluate and interpret all available research evidence relevant to determining the extent to which patriarchy contributes to the occurrence, re-occurrence, and continuation of GBV in Jordan. Twenty-one (21) full-text articles were selected for the in-depth review due to meeting the established criteria for inclusion. 81 percent of articles included primary data while 19 percent included secondary data. Analysis of data was based on a specific extraction form that was developed using the ‘Excel’ to respond to the main goal of the paper. Interpretation of data was in light of the theorization of different feminism schools on the relationship between patriarchy and gender-based violence. Findings show that 33 percent of the selected articles affirm that the patriarchal standpoint best explains the role of patriarchy in the incidence of gender-based violence in Jordan under its three main themes (Honor-based Violence, Intimate Partner Violence and Street Harassment). Apart from the limited number of articles that were found debating this argument and the low percentage of articles that acknowledged the role of patriarchy in the incidence of gender-based violence in Jordan, this paper breaks the ice to implement future empirical studies on this subject. Also, it is an invitation for all Jordanian women to unite their efforts in order to eradicate all forms of victimization against them.

Keywords: honor-based violence, intimate partner violence, middle-east, street harassment

Procedia PDF Downloads 225
282 An Acerbate Psychotics Symptoms, Social Support, Stressful Life Events, Medication Use Self-Efficacy Impact on Social Dysfunction: A Cross Sectional Self-Rated Study of Persons with Schizophrenia Patient and Misusing Methamphetamines

Authors: Ek-Uma Imkome, Jintana Yunibhand, Waraporn Chaiyawat

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Background: Persons with schizophrenia patient and misusing methamphetamines suffering from social dysfunction that impact on their quality of life. Knowledge of factors related to social dysfunction will guide the effective intervention. Objectives: To determine the direct effect, indirect effect and total effect of an acerbate Psychotics’ Symptoms, Social Support, Stressful life events, Medication use self-efficacy impact on social dysfunction in Thai schizophrenic patient and methamphetamine misuse. Methods: Data were collected from schizophrenic and methamphetamine misuse patient by self report. A linear structural relationship was used to test the hypothesized path model. Results: The hypothesized model was found to fit the empirical data and explained 54% of the variance of the psychotic symptoms (X2 = 114.35, df = 92, p-value = 0.05, X2 /df = 1.24, GFI = 0.96, AGFI = 0.92, CFI = 1.00, NFI = 0.99, NNFI = 0.99, RMSEA = 0.02). The highest total effect on social dysfunction was psychotic symptoms (0.67, p<0.05). Medication use self-efficacy had a direct effect on psychotic symptoms (-0.25, p<0.01), and social support had direct effect on medication use self efficacy (0.36, p <0.01). Conclusions: Psychotic symptoms and stressful life events were the significance factors that influenced direct on social dysfunctioning. Therefore, interventions that are designed to manage these factors are crucial in order to enhance social functioning in this population.

Keywords: psychotic symptoms, methamphetamine, schizophrenia, stressful life events, social dysfunction, social support, medication use self efficacy

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281 The Limits of Charity: Advancing a Rights-based Justice Model to Remedy Poverty and Hunger

Authors: Tracy Smith-Carrier

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In 1995, the World Health Organization declared that poverty was the biggest killer and the greatest cause of suffering in the world. Income is certainly a key social determinant of health, the lack of which causes innumerable health and mental health conditions. In seeking to provide relief from financial hardship for residents within their populace, states in the Global North have largely turned to the non-profit and charitable sector. The stigma and shame of accessing charity is a significant barrier for many, but what is more problematic is that the embrace of the charitable model has let governments off the hook from responding to their international human rights obligations. Although states are signatories to various human rights treaties and conventions internationally, many of these laws have not been implemented domestically. This presentation explores the limits of the charitable model in addressing poverty in countries of the Global North. Unlike in the ages passed, when poverty was thought to be an individual problem, we now know that poverty is largely systemic in nature. In this presentation, we will identify the structural determinants of poverty, outline why people are reticent to access charitable programs and services and how income security is reproduced through the charitable model, and discuss evidence-informed solutions, such as a basic income guarantee, to move beyond the charitable model in favour of a rights-based justice model. To move beyond charity, we must demand that governments recognize our fundamental human rights and address poverty and hunger using a justice model based on substantive human rights.

Keywords: basic income, charity, poverty, income security, hunger, food security, social justice, human rights

Procedia PDF Downloads 116
280 Weight Status, Body Appreciation Correlated with Husbands' Satisfaction in Saudi Women

Authors: Hala Hzam Al Otaibi

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Background: Obesity is more common among Saudi women compared to men, with 75–88% of adult women suffering from overweight or obesity and most of them married. Weight status and body appreciation are an important factor in maintaining or loss weight behaviors and for husbands satisfaction. Aims: To assess weight status, body appreciation and related factors, including age, level of education, occupation status husbands satisfaction in adult women. Methods: A cross-sectional study conducted among 326 married women, aged 18 to 60 years old in Eastern of Saudi Arabia. Data were collected by face to face interview, height and weight were measured to calculate body mass index (BMI). Body Appreciation Scale (BAS) and husbands satisfied were evaluated through questioning. Results: The majority of women has a university education, not employed and less than 40 years old (66.5%, 69.9%, 67.5%; respectively). Fifty-four percent of women overweight/obese and the rest were normal weight, BAS mean score was lower in younger women (>40 years) 7.39+2.20 and obese women (6.83+2.16) which is reflected lower body appreciation. Husbands' satisfaction regarding the weight status shows 47.6% of normal weight believed their husbands were dissatisfied with their weight and consider them as overweight/obese, 28.3% of overweight/obese thought their husbands satisfied with their weight and consider them as normal weight. Body appreciation correlated with age (r.139,p<0.05) and no correlation found for level of education and employed status. Husbands satisfaction strongly correlated with body appreciation (r.189,p<0.01) and weight status (r .570,p <0.01). Conclusion: Our findings indicate that women had a low body appreciation related to age, weight status and husbands' dissatisfaction. Future interventions aimed to weight reduction, it is important to consider husband satisfaction, as well as we need more assessment of weight satisfaction in younger women.

Keywords: body appreciation, husbands satisfaction, weight status, women

Procedia PDF Downloads 372
279 The Professional Rehabilitation of Workers Affected by Chronic Low Back Pain in 'Baixada Santista' Region, Brazil

Authors: Maria Do Carmo Baracho De Alencar

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Back pain is considered a worldwide public health problem and has led to numerous work-related absence from work and public spending on rehabilitation, as well as difficulties in the process of professional rehabilitation and return to work. Also, the rehabilitation of workers is one of the great challenges today and for the field of Workers' Health in Brazil. Aim: To investigate the procedures related to the professional rehabilitation of insured workers affected by chronic low back pain, based on the perceptions of professional counselors. Methods: A list of related professional counselors was obtained from the Professional Rehabilitation Coordination of the Baixada Santista (SP) region, and from the Social Security National Institute of Brazil, and in which cities they worked. Semistructured and individual interview was scheduled, based on a pre-elaborated script, containing questions about procedures, experiences at work and feelings. The interviews were recorded and transcribed in full for content analysis. Results: Ten (10) professional counselors of both genders and from nine (9) cities from the Baixada Santista region participated in the study. Aged between 31 and 64 years, and time in service between 4 and 38 years. Only one of the professionals was graduaded in Psychology. Among the testimonies emerged the high demand of work, the lack of interest of companies, medical authority, the social helplessness after rehabilitation process, difficulty in assessing invisible pain, and suffering, anguish, and frustration at work, between others. Conclusion: The study contributes to reflections about the importance of interdisciplinary actions and the Psychology in the processes of professional rehabilitation and readaptation in the process of return to work.

Keywords: low back pain, rehabilitation, work, occupational health

Procedia PDF Downloads 133
278 Bone Mineral Density and Frequency of Low-Trauma Fractures in Ukrainian Women with Metabolic Syndrome

Authors: Vladyslav Povoroznyuk, Larysa Martynyuk, Iryna Syzonenko, Liliya Martynyuk

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Osteoporosis is one of the important problems in postmenopausal women due to an increased risk of sudden and unexpected fractures. This study is aimed to determine the connection between bone mineral density (BMD) and trabecular bone score (TBS) in Ukrainian women suffering from metabolic syndrome. Participating in the study, 566 menopausal women aged 50-79 year-old were examined and divided into two groups: Group A included 336 women with no obesity (BMI ≤ 29.9 kg/m2), and Group B – 230 women with metabolic syndrome (diagnosis according to IDF criteria, 2005). Dual-energy X-ray absorptiometry was used for measuring of lumbar spine (L1-L4), femoral neck, total body and forearm BMD and bone quality indexes (last according to Med-Imaps installation). Data were analyzed using Statistical Package 6.0. A significant increase of lumbar spine (L1-L4), femoral neck, total body and ultradistal radius BMD was found in women with metabolic syndrome compared to those without obesity (p < 0.001) both in their totality and in groups of 50-59 years, 60-69 years, and 70-79 years. TBS was significantly higher in non-obese women compared to metabolic syndrome patients of 50-59 years and in the general sample (p < 0.05). Analysis showed significant positive correlation between body mass index (BMI) and BMD at all levels. Significant negative correlation between BMI and TBS (L1-L4) was established. Despite the fact that BMD indexes were significantly higher in women with metabolic syndrome, the frequency of vertebral and non-vertebral fractures did not differ significantly in the groups of patients.

Keywords: bone mineral density, trabecular bone score, metabolic syndrome, fracture

Procedia PDF Downloads 283
277 Criminal Psychology: The Relationship Between Posttraumatic Stress Disorder and Criminal Justice Involvement in Vietnam War Veterans

Authors: Danielle Page

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Foregoing studies, statistics, and medical evaluations have established a relationship between Posttraumatic stress disorder (PTSD) and criminal justice involvement in Vietnam veterans. War is highly trauma inducing and can leave combat veterans with mental disorders ranging from psychopathic thoughts to suicidal ideation. The majority of those suffering are unaware that they have PTSD, and as a coping mechanism, they often turn to self isolation. Beyond isolation, many veterans with symptomatic PTSD turn to aggression and substance abuse to cope with their internal agony. The most common crimes committed by veterans with PTSD fall into the assault and drug/alcohol abuse categories. Thus, a relationship is established between veteran populations and the criminal justice system. This research aims to define the relationship between PTSD and criminal justice involvement in veterans, explore the mediating factors in this relationship, and analyze numerous court cases in this subject area. Further, it will examine the ways in which crime rates can be reduced for veterans with symptoms of PTSD. This ranges from the improvement of healthcare systems to the implementation of special courts to handle veteran cases. The contribution of this work to the field of forensic psychology will be significant, as it will analyze preexisting case studies and experimental data in an effort to improve the ways in which veteran cases are handled in the criminal justice system. Military personnel involved in the criminal justice system are a vulnerable population in need of healthcare and legislative attention, and this work will bring us one step closer to providing them with just that.

Keywords: forensic psychology, psychotraumatology, PTSD, veterans

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276 Determining the Prevalence and Correlates of Depression among Transgenders of a Developing Country

Authors: Usama Bin Zubair, Muhammad Azeem

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Introduction: Depression has been one of the most commonly diagnosed mental health disorders in Pakistan. A Census conducted by the government of Pakistan in 2017 showed that more than 10000 trans-genders live in Pakistan. HIV, illicit substance use and mental health issues, including depression, have been the main health problems faced by them. Trans-gender population has been suffering from depressive illness more than normal population all over the world. Aim: To assess the prevalence of depression among the transgender population and analyze the relationship of socio-demographic factors with depression. Subjects and Methods: The sample population comprised of one hundred and forty-two transgender people of Rawalpindi and Islamabad. Beck depressive inventory II (BDI-II) was used to record the presence and severity of the depressive symptoms. Depressive symptoms were categorized as mild, moderate and severe. Relationship of the age, smoking, family income, illicit substance use and education were studied with the presence of depressive symptoms among these transgender people of twin cities of Pakistan. Results: A total of 142 transgender people were included in the final analysis. The mean age of the study participants was 39.55 ± 6.18. Out of these, 45.1% had no depressive symptoms while 31.7% had mild, 12.7% had moderate and 10.6% had severe depressive symptomatology. After applying the binary logistic regression, we found that the presence of depressive symptoms had a significant association with illicit substance use among the target population. Conclusion: This study showed a high prevalence of depressive symptoms among the transgender population in the twin cities of Pakistan. Use of illicit substances like tobacco, cannabis, opiates, and alcohol should be discouraged to prevent mental health problems.

Keywords: depression, transgender, prevalence, sociodemographic factors

Procedia PDF Downloads 121
275 An Anthropological Insight into Cultural Beliefs, Perceptions and Taboos Associated with Reproductive Tract Infections among Women of Village Junga Village, Himachal Pradesh, India

Authors: A. Ratika Thakur, B. A. K. Sinha , C. R. K. Pathak

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Reproductive Tract Infections are recognized as a serious global health problem with direct impact on women. In the developing countries, prevalence of RTI is much higher relative to other health problems. Women of the reproductive age group are socially, mentally and physically more vulnerable to infections. Also, it is a well established fact that RTI has prolonged complications in women rather than men. It causes ectopic pregnancy, pelvic inflammatory diseases, miscarriage and infertility in the long course. Women perspective about infections is less studied. In this view the study was carried out with an aim to determine knowledge, perception and belief of married women towards reproductive tract infection. The study was conducted in Junga village, District Shimla, Himachal Pradesh, India. 48 women were interviewed regarding awareness, beliefs and taboos related to reproductive tract infection. Other aspects like fertility history were also taken into account. The data were collected using interviews with the help of interview schedule and interview guide. Data were recorded in the form of narratives and case studies. The analysis was done using quantitative and qualitative analysis. It was found that a majority of women were not aware about the reasons of infection. Moreover cultural beliefs, perceptions and taboos made them more vulnerable and exposed to RTI. Economic dependency upon men, lack of control in barrier methods were some of the factors that contributed to delayed treatment of women. It was found that a majority of women suffering from RTIs were silently bearing the burden and underwent treatment when the case would not rest in their hands.

Keywords: belief, infection, perception, taboo, women

Procedia PDF Downloads 374
274 Servant Leadership for Elder Care in St. Camillus Health Systems, USA

Authors: Anthoni Jeorge

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Throughout the history of the world, servant leadership has been researched, and favourable results such as individual, team, and organizational have been linked to the construct. This research paper designates St. Camillus de Lellis, a practitioner of servant leadership and founder of the Ministers of the Sick as a servant leader in his approach to care for the sick. Service is the visible face of his servant leadership. First of all, despite many challenges, St. Camillus de Lellis practiced leadership by the example of compassionate service to the sick. Second, he made service to the sick the highest priority of his life. Third, Camillus displayed servant leadership such that his manner of leadership gave birth to a New School of Service to the Sick. The paper identifies the distinctive dimensions and essential elements which characterized his service-centered leadership. Furthermore, discuss the six major characteristics of a servant leader as set forth by St. Camillus’s life example. The research illustrates the transformational power of servant leadership infield healthcare in general and, in doing so, provides servant leadership seekers ways servant leadership can transform elder care in one’s own field (St. Camillus Health Systems). Thus, it ascertains that servant leadership is best-fit for humanized elder care. Supported by the review of literature, the paper ascertains that Camillus, by identifying himself with the sick, gained deeper insights concerning the pain and suffering of the population. Uniquely drawn from his true grit, Camillus’ service-centered leadership is value-based, people-oriented, and compassion-filled. His way of service to the sick is the prolongation of gestures of mercy and compassion. It is hoped that the results of this study will help health care workers and servant leadership practitioners to humanize elder care and cultivate servant leadership attitude in their health care services to the sick. By incorporating such service-oriented elements into their leadership orientation, health care workers will be true servant leaders of the sick.

Keywords: leadership, service, healthcare, compassion

Procedia PDF Downloads 163
273 Effects of a Simulated Power Cut in Automatic Milking Systems on Dairy Cows Heart Activity

Authors: Anja Gräff, Stefan Holzer, Manfred Höld, Jörn Stumpenhausen, Heinz Bernhardt

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In view of the increasing quantity of 'green energy' from renewable raw materials and photovoltaic facilities, it is quite conceivable that power supply variations may occur, so that constantly working machines like automatic milking systems (AMS) may break down temporarily. The usage of farm-made energy is steadily increasing in order to keep energy costs as low as possible. As a result, power cuts are likely to happen more frequently. Current work in the framework of the project 'stable 4.0' focuses on possible stress reactions by simulating power cuts up to four hours in dairy farms. Based on heart activity it should be found out whether stress on dairy cows increases under these circumstances. In order to simulate a power cut, 12 random cows out of 2 herds were not admitted to the AMS for at least two hours on three consecutive days. The heart rates of the cows were measured and the collected data evaluated with HRV Program Kubios Version 2.1 on the basis of eight parameters (HR, RMSSD, pNN50, SD1, SD2, LF, HF and LF/HF). Furthermore, stress reactions were examined closely via video analysis, milk yield, ruminant activity, pedometer and measurements of cortisol metabolites. Concluding it turned out, that during the test only some animals were suffering from minor stress symptoms, when they tried to get into the AMS at their regular milking time, but couldn´t be milked because the system was manipulated. However, the stress level during a regular “time-dependent milking rejection” was just as high. So the study comes to the conclusion, that the low psychological stress level in the case of a 2-4 hours failure of an AMS does not have any impact on animal welfare and health.

Keywords: dairy cow, heart activity, power cut, stable 4.0

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272 Atomic Layer Deposition of Metal Oxides on Si/C Materials for the Improved Cycling Stability of High-Capacity Lithium-Ion Batteries

Authors: Philipp Stehle, Dragoljub Vrankovic, Montaha Anjass

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Due to its high availability and extremely high specific capacity, silicon (Si) is the most promising anode material for next generation lithium-ion batteries (LIBs). However, Si anodes are suffering from high volume changes during cycling causing unstable solid-electrolyte interface (SEI). One approach for mitigation of these effects is to embed Si particles into a carbon matrix to create silicon/carbon composites (Si/C). These typically show more stable electrochemical performance than bare silicon materials. Nevertheless, the same failure mechanisms mentioned earlier appear in a less pronounced form. In this work, we further improved the cycling performance of two commercially available Si/C materials by coating thin metal oxide films of different thicknesses on the powders via Atomic Layer Deposition (ALD). The coated powders were analyzed via ICP-OES and AFM measurements. Si/C-graphite anodes with automotive-relevant loadings (~3.5 mAh/cm2) were processed out of the materials and tested in half coin cells (HCCs) and full pouch cells (FPCs). During long-term cycling in FPCs, a significant improvement was observed for some of the ALD-coated materials. After 500 cycles, the capacity retention was already up to 10% higher compared to the pristine materials. Cycling of the FPCs continued until they reached a state of health (SOH) of 80%. By this point, up to the triple number of cycles were achieved by ALD-coated compared to pristine anodes. Post-mortem analysis via various methods was carried out to evaluate the differences in SEI formation and thicknesses.

Keywords: silicon anodes, li-ion batteries, atomic layer deposition, silicon-carbon composites, surface coatings

Procedia PDF Downloads 119
271 Assessing Walkability in New Cities around Cairo

Authors: Lobna Ahmed Galal

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Modal integration has given minimal consideration in cities of developing countries, as well as the declining dominance of public transport, and predominance of informal transport, the modal share of informal taxis in greater Cairo has increased from 6% in 1987 to 37% in 2001 and this has since risen even higher, informal and non-motorized modes of transport acting as a gap filler by feeding other modes of transport, not by design or choice, but often by lack of accessible and affordable public transport. Yet non-motorized transport is peripheral, with minimal priority in urban planning and investments, lacking of strong polices to support non-motorized transport, for authorities development is associated with technology and motorized transport, and promotion of non-motorized transport may be considered corresponding to development, as well as social stigma against non-motorized transport, as it is seen a travel mode for the poor. Cairo as a city of a developing country, has poor quality infrastructure for non-motorized transport, suffering from absence of dedicated corridors, and when existing they are often encroached for commercial purposes, widening traffic lanes at the expense of sidewalks, absence of footpaths, or being overcrowded, poor lighting, making walking unsafe and yet, lack of financial supply to such facilities as it is often considered beyond city capabilities. This paper will deal with the objective measuring of the built environment relating to walking, in some neighborhoods of new cities around Cairo, In addition to comparing the results of the objective measures of the built environment with the level of self-reported survey. The first paper's objective is to show how the index ‘walkability of community neighborhoods’ works in the contexts in neighborhoods of new cities around Cairo. The procedure of objective measuring is of a high potential to be carried out by using GIS.

Keywords: assessing, built environment, Cairo, walkability

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270 The Effect of Addition of White Mulberry Fruit on the Sensory Quality of the New Developed Bioactive Bread

Authors: Kmiecik Dominik, Kobus-Cisowska Joanna, Gramza-Michalowska Anna, Marcinkowska Agata, Korczak Józef

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The relationship between the choice of a proper diet, a diet, lifestyle man and his health has been known for a long time. Because of the increase in public awareness of food ingredients and their influence on health status, measures have been taken towards the production of food, which is designed to not only eat, but also to protect against the incidence of lifestyle diseases. For this purpose, the bio active products with healthy properties was developed. Mulberry have a very high nutritional value, rich in chemical composition and many properties used in the prevention of lifestyle diseases. In addition to basic chemical components, nutrients, mulberry fruit contain compounds having a physiological effect. The aim of this study was to assess the effect of white mulberry fruit on the sensory quality of bread to be healthy diet of people suffering from anemia, diabetes, obesity and cardiovascular disease. Sensory analysis was carried out by the profile method. Intra-operative differentiators color, aroma, taste, texture, and overall assessment. Sensory analysis showed that all test trials were characterized by a uniform and concise consistency, similar in color from dark to light beige. The taste and smell of herbal characteristic was designed in an attempt to prevention of diabetes, while the other samples were characterized by a typical taste and smell of bread grain. There were no foreign taste and odor in the test bread. It was found that the addition of white mulberry fruit does not affect the sensory quality of the newly developed bioactive bread.

Keywords: mulberry, bread, bioactive, sensory analysis

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269 Treatment of NMSC with Traditional Medicine Method

Authors: Aferdita Stroka Koka, Laver Stroka, Juna Musa, Samanda Celaj

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Non-melanoma skin cancers (NMSCs) are the most common human malignancies. About 5.4 million basal and squamous cell skin cancers are diagnosed each year in the US and new cases continue to grow. About eight out of ten of these are basal cell cancers. Squamous cell cancers occur less often. NMSC usually are treatable, but treatment is expensive and can leave scars. In 2019, 167 patients of both sexes suffering from NMSC were treated by traditional medicine. Patients who have been diagnosed with Basal Cell Carcinoma were 122 cases, Squamous Cell Carcinoma 32 cases and both of them 13 cases. Of these,122 cases were ulcerated lesions and 45 unulcerated lesions. All patients were treated with the herbal solution called NILS, which contains extracts of some Albanian plants such as Allium sativum, Jugulans regia and Laurus nobilis. The treatment is done locally, on the surface of the tumor, applying the solution until the tumor mass is destroyed and, after that, giving the necessary time to the wound to make the regeneration that coincides with the complete healing of the wound. We have prepared a collection of photos for each case. Since the first sessions, a shrinkage and reduction of the tumor mass were evident, up to the total disappearance of the lesion at the end of treatment. The normal period of treatment lasted 1 to 2 weeks, depending on the size of the tumor, then take care of it until the closure of the wound, taking the whole process from 1 to 3 months. In 7 patients, the lesion failed to be dominated by treatment and they underwent standard treatment with radiotherapy or surgery, while in 10 patients, the lesion recurred and was treated again. The aim of this survey was to put in evidence the good results obtained by treatment of NMSC with Albanian traditional medicine methods.

Keywords: local treatment, nils, NMSC, traditional medicine

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268 Learners’ Violent Behaviour and Drug Abuse as Major Causes of Tobephobia in Schools

Authors: Prakash Singh

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Many schools throughout the world are facing constant pressure to cope with the violence and drug abuse of learners who show little or no respect for acceptable and desirable social norms. These delinquent learners tend to harbour feelings of being beyond reproach because they strongly believe that it is well within their rights to engage in violent and destructive behaviour. Knives, guns, and other weapons appear to be more readily used by them on the school premises than before. It is known that learners smoke, drink alcohol, and use drugs during school hours, hence, their ability to concentrate, work, and learn, is affected. They become violent and display disruptive behaviour in their classrooms as well as on the school premises, and this atrocious behaviour makes it possible for drug dealers and gangsters to gain access onto the school premises. The primary purpose of this exploratory quantitative study was therefore to establish how tobephobia (TBP), caused by school violence and drug abuse, affects teaching and learning in schools. The findings of this study affirmed that poor discipline resulted in producing poor quality education. Most of the teachers in this study agreed that educating learners who consumed alcohol and other drugs on the school premises resulted in them suffering from TBP. These learners are frequently abusive and disrespectful, and resort to violence to seek attention. As a result, teachers feel extremely demotivated and suffer from high levels of anxiety and stress. The word TBP will surely be regarded as a blessing by many teachers throughout the world because finally, there is a word that will make people sit up and listen to their problems that cause real fear and anxiety in schools.

Keywords: aims and objectives of quality education, debilitating effects of tobephobia, fear of failure associated with education, learners' violent behaviour and drug abuse

Procedia PDF Downloads 277
267 The Effect of Low and High Dose Curcumin Supplementation on Prevention and Treatment of Sarcopenia: The Concept of Hormesis

Authors: Sevana Daneghian, Leila Chodari, Sahar Mehranfar, Shadi Mohammadpour-Asl, Diman Mahdi

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Sarcopenia is an age-related muscle disease. Lack of antioxidant protection, and cumulative oxidative damage to skeletal muscle are recognized mechanisms. Curcumin is a hormetin as it has a stimulating effect in low doses and an inhibitory effect in high doses. The purpose of this study was to examine the effects of four weeks of curcumin supplementation in presarcopenic and sarcopenic rats, and likelihood of potential negative effects while co-exist with sarcopenia. The rats were divided into 7 groups: young sham rats, 18 months old; presarcopenic control, supplemented with 400 and 1500 mg/kg/day, 24 months old; Sarcopenia control, sarcopenia supplemented with 400 and 1500 mg/kg/day. MDA levels were significantly reduced in the low-dose pre-sarcopenic group compared to the control group. Compared to the corresponding control groups, SOD levels decreased in the groups treated with low-dose presarcopenic supplementation and increased in the high-dose sarcopenic supplemented. GPx levels increased at both doses only in the sarcopenic group compared to the control group. SIRT-1 only increased at low doses in the sarcopenic groups and PGC-1α in both pre-sarcopenia groups compared to the corresponding control. IGF-1 increased compared to the control group at both doses in the pre-sarcopenic group and at high doses in sarcopenic group. Considering the hormetic effects of curcumin, it can be argued that, curcumin supplementation has some positive effects not only at low but also at high doses in both groups. This means that the high doses of curcumin have no negative synergistic effects in addition to oxidative stress during sarcopenia and high-dose supplementation in patients already suffering from high oxidative stress due to sarcopenia is safe and could be considered hormetic.

Keywords: curcumin, hormesis, sarcopenia, muscular atrophy, PGC protein, Sirtuins

Procedia PDF Downloads 39
266 Shared Decision-Making in Holistic Healthcare: Integrating Evidence-Based Medicine and Values-Based Medicine

Authors: Ling-Lang Huang

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Research Background: Historically, the evolution of medicine has not only aimed to extend life but has also inadvertently introduced suffering in the process of maintaining life, presenting a contemporary challenge. We must carefully assess the conflict between the length of life and the quality of living. Evidence-Based Medicine (EBM) exists primarily to ensure the quality of cures. However, EBM alone does not fulfill our ultimate medical goals; we must also evaluate Value-Based Medicine (VBM) to find the best treatment for patients. Research Methodology: We can attempt to integrate EBM with VBM. Within the five steps of EBM, the first three steps (Ask—Acquire—Appraise) focus on the physical aspect of humans. However, in the fourth and fifth steps (Apply—Assess), the focus shifts from the physical to applying evidence-based treatment to the patient and assessing its effectiveness, considering a holistic approach to the individual. To consider VBM for patients, we can divide the process into three steps: The first step is "awareness," recognizing that each patient inhabits a different life-world and possesses unique differences. The second step is "integration," akin to the hermeneutic concept of the Fusion of Horizons. This means being aware of differences and also understanding the origins of these patient differences. The third step is "respect," which involves setting aside our adherence to medical objectivity and scientific rigor to respect the ultimate healthcare decisions made by individuals regarding their lives. Discussion and Conclusion: After completing these three steps of VBM, we can return to the fifth step of EBM: Assess. Our assessment can now transcend the physical treatment focus of the initial steps to align with a holistic care philosophy.

Keywords: shared decision-making, evidence-based medicine, values-based medicine, holistic healthcare

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265 Assessing Perinatal Mental Illness during the COVID-19 Pandemic: A Review of Measurement Tools

Authors: Mya Achike

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Background and Significance: Perinatal mental illness covers a wide range of conditions and has a huge influence on maternal-child health. Issues and challenges with perinatal mental health have been associated with poor pregnancy, birth, and postpartum outcomes. It is estimated that one out of five new and expectant mothers experience some degree of perinatal mental illness, which makes this a hugely significant health outcome. Certain factors increase the maternal risk for mental illness. Challenges related to poverty, migration, extreme stress, exposure to violence, emergency and conflict situations, natural disasters, and pandemics can exacerbate mental health disorders. It is widely expected that perinatal mental health is being negatively affected during the present COVID-19 pandemic. Methods: A review of studies that reported a measurement tool to assess perinatal mental health outcomes during the COVID-19 pandemic was conducted following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. PubMed, CINAHL, and Google Scholar were used to search for peer-reviewed studies published after late 2019, in accordance with the emergence of the virus. The search resulted in the inclusion of ten studies. Approach to measure health outcome: The main approach to measure perinatal mental illness is the use of self-administered, validated questionnaires, usually in the clinical setting. Summary: Widespread use of these tools has afforded the clinical and research communities the ability to identify and support women who may be suffering from mental illness disorders during a pandemic. More research is needed to validate tools in other vulnerable, perinatal populations.

Keywords: mental health during covid, perinatal mental health, perinatal mental health measurement tools, perinatal mental health tools

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264 Water-Sensitive Landscaping in Desert-Located Egyptian Cities through Sheer Reductions of Turfgrass and Efficient Water Use

Authors: Sarah M. Asar, Nabeel M. Elhady

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Egypt’s current per capita water share indicates that the country suffers and has been suffering from water poverty. The abundant utilization of turfgrass in Egypt’s new urban settlements, the reliance on freshwater for irrigation, and the inadequate plant selection increase the water demand in such settlements. Decreasing the surface area of turfgrass by using alternative landscape features such as mulching, using ornamental low-maintenance plants, increasing pathways, etc., could significantly decrease the water demand of urban landscapes. The use of Ammochloa palaestina, Cenchrus crientalis (Oriental Fountain Grass), and Cistus parviflorus (with water demands of approximately 0.005m³/m²/day) as alternatives for Cynodon dactylon (0.01m³/m²/day), which is the most commonly used grass species in Egypt’s landscape, could decrease an area’s water demand by approximately 40-50%. Moreover, creating hydro-zones of similar water demanding plants would enable irrigation facilitation rather than the commonly used uniformed irrigation. Such a practice could further reduce water consumption by 15-20%. These results are based on a case-study analysis of one of Egypt’s relatively new urban settlements, Al-Rehab. Such results emphasize the importance of utilizing native, drought-tolerant vegetation in the urban landscapes of Egypt to reduce irrigation demands. Furthermore, proper implementation, monitoring, and maintenance of automated irrigation systems could be an important factor in a space’s efficient water use. As most new urban settlements in Egypt adopt sprinkler and drip irrigation systems, the lack of maintenance leads to the manual operation of such systems, and, thereby, excessive irrigation occurs.

Keywords: alternative landscape, native plants, efficient irrigation, low water demand

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263 Phenotypic and Molecular Heterogeneity Linked to the Magnesium Transporter CNNM2

Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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262 Synthesising Smart City and Smart Port Concepts: A Conceptualization for Small and Medium-Sized Port City Ecosystems

Authors: Christopher Meyer, Laima Gerlitz

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European Ports are about to take an important step towards their future economic development. Existing legislatives such as the European Green Deal are changing the perspective on ports as individual logistic institutions and demand a more holistic view on ports in their characteristic as ecosystem involving several different actors in an interdisciplinary and multilevel approach. A special role is taken by small and medium-sized ports facing the same political restriction and future goals - such as reducing environmental impacts with 2030 and 2050 as targets - while suffering from low financing capacity, outdated infrastructure, low innovation measures and missing political support. In contrast, they are playing a key role in regional economic development and cross-border logistics as well as facilitator for the regional hinterland. Also, in comparison to their big counterparts, small and medium-sized ports are often located within or close to city areas. This does not only bear more challenges especially when it comes to the environmental performance, but can also carry out growth potentials by putting the city as a key actor into the port ecosystem. For city development, the Smart City concept is one of the key strategies currently applied mostly on demonstration level in selected cities. Hence, the basic idea behind is par to the Smart Port concept. Thus, this paper is analysing potential synergetic effects resulting from the application of Smart City and Smart Port concepts for small and medium-sized ports' ecosystems closely located to cities with focus on innovation application, greening measurements and economic performances as well as strategic positioning of the ports in Smart City initiatives.

Keywords: port-city ecosystems, regional development, sustainability transition, innovation policy

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261 The Effect of a Three-Month Training Program on the Back Kyphosis of Former Male Addicts

Authors: M. J. Pourvaghar, Sh. Khoshemehry

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Adopting inappropriate body posture during addiction can cause muscular and skeletal deformities. This study is aimed at investigating the effects of a program of the selected corrective exercises on the kyphosis of addicted male patients. Materials and methods: This was a quasi-experimental study. This study has been carried out using the semi-experimental method. The subjects of the present study included 104 addicted men between 25 to 45 years of age. In 2014, these men were referred to one of the NA (Narcotic Anonymous) centres in Kashan in 2015. A total of 24 people suffering from drug withdrawal, who had abnormal kyphosis, were purposefully selected as a sample. The sample was randomly divided into two groups, experimental and control; each group consisted of 12 people. The experimental group participated in a training program for 12 weeks consisting of three 60 minute sessions per week. That includes strengthening, stretching and PNF exercises (deep stretching of the muscle). The control group did no exercise or corrective activity. The Kolmogorov-Smirnov test was used to assess normal distribution of data; and a paired t-test and covariance analysis test were used to assess the effectiveness of the exercises, with a significance level of P≤0.05 by using SPSS18. The results showed that three months of the selected corrective exercises had a significant effect (P≤ 0.005) on the correction of the kyphosis of the addicted male patients after three months of rehabilitation (drug withdrawal) in the experimental group, while there was no significant difference recorded in the control group (P≥0.05). The results show that exercise and corrective activities can be used as non-invasive and non-pharmacological methods to rehabilitate kyphosis abnormalities after drug withdrawal and treatment for addiction.

Keywords: kyphosis, exercise-rehabilitation, addict, addiction

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260 Irritable Bowel Syndrome Prevalence and Associated Risk Factors Among Medical Students And Intern Doctors in Sudan

Authors: Zainab Alghali Elsaid Muhammed

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Background : IBS is a gastrointestinal disorder characterized by a variety of symptoms that occur concurrently. It is very common and is associated with high levels of psychiatric comorbidities, all of which have a negative impact on the patient's quality of life. Abdominal pain, diarrhea, constipation, excess gas, and bloating are common symptoms of IBS. Objectives : The purpose of this study is to determine the prevalence of IBS among medical students and intern doctors in Sudan, as well as the risk factors associated with it. Study design: This cross-sectional study was carried out in Sudan from April to July 2022. All participants completed a six-part online questionnaire. The ROME IV criteria questionnaire was used to make an IBS diagnosis. Participants completed the hospital anxiety and depression questionnaire in order to be diagnosed with anxiety and depression. Results : 600 participants filled out the questionnaire. The overall prevalence of IBS was found to be 42%, with females being the most affected. Intern doctors had higher IBS rates (30.0%) than medical students, but this was not statistically significant. Single status (p =0.079), good GPAs (p =0.00), had significant associations with IBS occurrence. Other significantly associated habits were sleeping less than 8 hours (p =0.013), two cups or less of coffee per day (p = 0.109), No smoking (p =0.001), and No exercise (p =0.00, IBS participants were also found to have a significant relationship with abnormal anxiety (p =0.00) and borderline depression (p=0.0156). Conclusion : The high prevalence of IBS in this study suggests that medical students and interns are unable to recognize their symptoms. The main IBS predictors in this study were suffering from anxiety or depression, having an insufficient income, sleeping less than 8 hours per day, working/ studying more than 8 hours per day, and not performing any type of exercise.

Keywords: irritable bowel syndrome, sudan, HADS, rome IV, medical students

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259 Knowledge Based Software Model for the Management and Treatment of Malaria Patients: A Case of Kalisizo General Hospital

Authors: Mbonigaba Swale

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Malaria is an infection or disease caused by parasites (Plasmodium Falciparum — causes severe Malaria, plasmodium Vivax, Plasmodium Ovale, and Plasmodium Malariae), transmitted by bites of infected anopheles (female) mosquitoes to humans. These vectors comprise of two types in Africa, particularly in Uganda, i.e. anopheles fenestus and Anopheles gambaie (‘example Anopheles arabiensis,,); feeds on man inside the house mainly at dusk, mid-night and dawn and rests indoors and makes them effective transmitters (vectors) of the disease. People in both urban and rural areas have consistently become prone to repetitive attacks of malaria, causing a lot of deaths and significantly increasing the poverty levels of the rural poor. Malaria is a national problem; it causes a lot of maternal pre-natal and antenatal disorders, anemia in pregnant mothers, low birth weights for the newly born, convulsions and epilepsy among the infants. Cumulatively, it kills about one million children every year in sub-Saharan Africa. It has been estimated to account for 25-35% of all outpatient visits, 20-45% of acute hospital admissions and 15-35% of hospital deaths. Uganda is the leading victim country, for which Rakai and Masaka districts are the most affected. So, it is not clear whether these abhorrent situations and episodes of recurrences and failure to cure from the disease are a result of poor diagnosis, prescription and dosing, treatment habits and compliance of the patients to the drugs or the ethical domain of the stake holders in relation to the main stream methodology of malaria management. The research is aimed at offering an alternative approach to manage and deal absolutely with problem by using a knowledge based software model of Artificial Intelligence (Al) that is capable of performing common-sense and cognitive reasoning so as to take decisions like the human brain would do to provide instantaneous expert solutions so as to avoid speculative simulation of the problem during differential diagnosis in the most accurate and literal inferential aspect. This system will assist physicians in many kinds of medical diagnosis, prescribing treatments and doses, and in monitoring patient responses, basing on the body weight and age group of the patient, it will be able to provide instantaneous and timely information options, alternative ways and approaches to influence decision making during case analysis. The computerized system approach, a new model in Uganda termed as “Software Aided Treatment” (SAT) will try to change the moral and ethical approach and influence conduct so as to improve the skills, experience and values (social and ethical) in the administration and management of the disease and drugs (combination therapy and generics) by both the patient and the health worker.

Keywords: knowledge based software, management, treatment, diagnosis

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258 Barriers to Marital Expectation among Individuals with Hearing Impairment in Oyo State

Authors: Adebomi M. Oyewumi, Sunday Amaize

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The study was designed to examine the barriers to marital expectations among unmarried persons with hearing impairment in Oyo State, Nigeria. Descriptive survey research design was adopted. Purposive sampling technique was used to select one hundred participants made up forty-four (44) males and fifty-six (56) females, all with varying degrees of hearing impairment. Eight research questions were raised and answered. The instrument used was Marital Expectations Scale with reliability coefficient of 0.86. Data was analyzed using descriptive statistics tools of frequency count and simple percentage as well as inferential statistics tools of T-TEST and ANOVA. The findings revealed that there was a significant relationship existing among the main identified barriers (environmental barrier, communication barrier, hearing loss, unemployment and poor sexuality education) to the marital expectations of unmarried persons with hearing impairment. The joint contribution of the independent variables (identified barriers) to the dependent variable (marital expectations) was significant, F = 5.842, P < 0.05, accounting for about 89% of the variance. The relative contribution of the identified barriers to marital expectations of unmarried persons with hearing impairment is as follows: environmental barrier (β = 0.808, t = 5.176, P < 0.05), communication barrier (β = 0.533, t = 3.305, P < 0.05), hearing loss (β = 0.550, t = 2.233, P < 0.05), unemployment (β = 0.431, t = 2.102, P < 0.05), poor sexuality education (β = 0.361, t = 1.985, P < 0.05). Environmental barrier proved to be the most potent contributor to the poor marital expectations among unmarried persons with hearing impairment. Therefore, it is recommended that society dismantles the nagging environmental barrier through positive identification with individuals suffering from hearing impairment. In this connection, members of society should change their negative attitudes and do away with all the wrong notions about the marital ability of individuals with hearing impairment.

Keywords: environmental barrier, hearing impairment, marriage, marital expectations

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257 Percentage Contribution of Lower Limb Moments to Vertical Ground Reaction Force in Normal Walking

Authors: Salam M. Elhafez, Ahmed A. Ashour, Naglaa M. Elhafez, Ghada M. Elhafez, Azza M. Abdelmohsen

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Patients suffering from gait disturbances are referred by having muscle group dysfunctions. There is a need for more studies investigating the contribution of muscle moments of the lower limb to the vertical ground reaction force using 3D gait analysis system. The purpose of this study was to investigate how the hip, knee and ankle moments in the sagittal plane contribute to the vertical ground reaction force in healthy subjects during normal speed of walking. Forty healthy male individuals volunteered to participate in this study. They were filmed using six high speed (120 Hz) Pro-Reflex Infrared cameras (Qualisys) while walking on an AMTI force platform. The data collected were the percentage contribution of the moments of the hip, knee and ankle joints in the sagittal plane at the instant of occurrence of the first peak, second peak, and the trough of the vertical ground reaction force. The results revealed that at the first peak of the ground reaction force (loading response), the highest contribution was generated from the knee extension moment, followed by the hip extension moment. Knee flexion and ankle plantar flexion moments produced high contribution to the trough of the ground reaction force (midstance) with approximately equal values. The second peak of the ground reaction force was mainly produced by the ankle plantar flexion moment. Conclusion: Hip and knee flexion and extension moments and ankle plantar flexion moment play important roles in the supporting phase of normal walking.

Keywords: gait analysis, ground reaction force, moment contribution, normal walking

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256 Previously Undescribed Cardiac Abnormalities in Two Unrelated Autistic Males with Causative Variants in CHD8

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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