Search results for: neurological disorders

Authors: Rona Hanani Simamora, Bahagia Loebis, M. Surya Husada

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Background: The exact cause of schizophrenia is not known, although several etiology theories have been proposed for the disease, including immune dysfunction or autoimmune mechanisms. Cytokines including Tnf-α has an important role in the pathophysiology of schizophrenia and the effects of pharmacological treatment with antipsychotics. Nicotine is widespread effects on the brain, immune system and cytokine levels. Smoking among schizophrenic patients could play a role in the altered cytokine profiles of schizophrenia such as Tnf-α. Aims: To determine differences of serum Tnf-α levels between schizophrenic patients with smoking in male and healthy control. Methods: This study was a comparative analytic study, divided into two groups: 1) group of male schizophrenic patients with smoking (n1=30) with inclusion criteria were patients who have been diagnosed schizophrenic based PPDGJ-III, 20-60 years old, male, smoking, chronic schizophrenic patients in the stable phase and willing to participate this study. Exclusion criteria were having other mental disorders and comorbidity with other medical illnesses. 2) healthy control group (n2=30) with inclusion criteria were 20-60 years old, male, smoking, willing to participate this study. Exclusion criteria were having mental disorder, a family history of psychiatric disorders, the other medical illnesses, a history of alcohol and other substances abuse (except caffeine and nicotine). Serum Tnf-α were analyzed using the Quantikine HS Human Tnf –α Immunoassay. Results: Serum Tnf-α level measure in patient schizophrenia male with smoking and compared with the healthy control subjects. Tnf-α levels were significantly higher in patients schizophrenic male with smoking (25,79±27,96) to healthy control subjects (2,74±2,19), by using the Mann Whitney U test showed a statistically significant difference was observed for serum Tnf-α level (p < 0,001). Conclusions: Schizophrenia is a highly heterogeneous disorder, and this study shows an increase Tnf-α as pro-inflammation cytokines in schizophrenics. These results suggest an immune abnormalities may be involved in the etiology and pathophysiology of schizophrenia.

Keywords: male, schizophrenic, smoking, Tnf Alpha

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Authors: Amlan Datta

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Dengue is an arboviral, vector borne infection, quite prevalent in tropical countries such as India. Approximately, 1 to 25% of cases may give rise to neurological complication, such as, seizure, delirium, Guillian-Barre syndrome (GBS), multiple cranial nerve palsies, intracranial thrombosis, stroke-like presentations, to name a few. Dengue fever, as an antecedent to GBS is uncommon, especially in adults.Here, we report a case about a middle aged lady who presented with an acute onset areflexic ascending type of polyradiculoneuropathy along with bilateral lower motor neuron type of facial nerve palsy, as well as abducens and motor component of trigeminal (V3) weakness. Her respiratory and neck muscles were spared. She had an established episode of dengue fever (NS1 and dengue IgM positive) 7 days prior to the weakness. Nerve conduction study revealed a demyelinating polyradiculopathy of both lower limbs and cerebrospinal fluid examination showed albuminocytological dissociation. She was treated with 5 days of intravenous immunoglobulin (IVIg), following which her limb weakness improved considerably. This case highlights GBS as a potential complication following dengue fever.

Keywords: areflexic, demyelinating, dengue, polyradiculoneuropathy

Procedia PDF Downloads 233

Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

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Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model Analysis of Variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weight visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on the stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

Abstract:

Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on a compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on a compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model analysis of variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of the condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weigh visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on a stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high-functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Ismail Seçer

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The purpose of this study is to investigate the effects of anxiety sensitivity in adolescents on anxiety disorder and childhood depression. Mood disorders and anxiety disorders in children and adolescents can be given examples of important research topics in recent years. The participants of the study consist of 670 students in Erzurum and Erzincan city centers. The participants of the study were 670 secondary and high school students studying in city centers of Erzurum and Erzincan. The participants were chosen based on convenience sampling. The participants were between the ages of 13 and 18 (M=15.7, Ss= 1.35) and 355 were male and 315 were female. The data were collected through Anxiety Sensitivity Index and Anxiety and Depression Index for Children and Adolescents. For data analysis, Correlation analysis and Structural Equation Model were used. In this study, correlational descriptive survey was used. This model enables the researcher to make predictions related to different variables based on the information obtained from one or more variables. Therefore, the purpose is to make predictions considering anxiety disorder and childhood depression based on anxiety sensitivity. For this purpose, latent variable and structural equation model was used. Structural equation model is an analysis method which enables the identification of direct and indirect effects by determining the relationship between observable and latent variables and testing their effects on a single model. CFI, RMR, RMSEA and SRMR, which are commonly accepted fit indices in structural equation model, were used. The results revealed that anxiety sensitivity impacts anxiety disorder and childhood depression through direct and indirect effects in a positive way. The results are discussed in line with the relevant literature. This finding can be considered that anxiety sensitivity can be a significant risk source in terms of children's and adolescents’ anxiety disorder experience. This finding is consistent with relevant research highlighting that in case the anxiety sensitivity increases then the obsessive compulsive disorder and panic attack increase too. The adolescents’ experience of anxiety can be attributed to anxiety sensitivity.

Keywords: anxiety sensitivity, anxiety, depression, structural equation

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Authors: Gunilla Dahlgren, Per Liv, Fredrik Öhberg, Lisbeth Slunga Järvholm, Mikael Forsman, Börje Rehn

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Background: Accuracy of risk assessment tools in hand-repetitive work is important. This can support precision in the risk management process and for a sustainable working life for women and men equally. Musculoskeletal disorders, MSDs, from the hand, wrist, and forearm, are common in the working population. Women report a higher prevalence of MSDs in these regions. Objective: The objective of this study was to compare if women and men who performed the identical hand-intensive work task were rated equally using the Hand Activity Threshold Limit Value® (HA-TLV) when self-rated and observer-rated. Method: Fifty-six workers from eight companies participated, with various intensities in hand-repetitive work tasks. In total, 18 unique identical hand-intensive work tasks were executed in 28 pairs of a woman and a man. Hand activity and force levels were assessed. Each worker executed the work task for 15 minutes, which was also video recorded. Data was collected on workers who self-rated directly after the execution of the work task. Also, experienced observers performed ratings from videos of the same work tasks. For comparing means between women and men, paired samples t-tests were used. Results: The main results showed that there was no difference in self-ratings of hand activity level and force by women and men who executed the same work task. Further, there was no difference between observer ratings of hand activity level. However, the observer force ratings of women and men differed significantly (p=0.01). Conclusion: Hand activity and force levels are rated equally in women and men when self-rated, also by observers for hand activity. However, it is an observandum that observer force rating is rated higher for women and lower for men. This indicates the need of comparing force ratings with technical measures.

Keywords: gender, equity, sex differences, repetitive strain injury, cumulative trauma disorders, upper extremity, exposure assessment, workload, health risk assessment, observation, psychophysics

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Authors: Herng-Sheng Lee, Chi-Yi Chen, Wan-Ting Huang, Li-Jen Chang, Solomon Chih-Cheng Chen, Hsin-Yi Yang

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A variety of gastrointestinal disorders, such as Crohn’s disease, ulcerative colitis, and coeliac disease, are recognized as risk factors for osteoporosis and osteoporotic fractures. One recent study suggests that individuals with irritable bowel syndrome (IBS) might also be at increased risk of osteoporosis and osteoporotic fractures. Up to now, the association between IBS and the risk of fractures at different anatomic sites occurrences is not completely clear. We conducted a population-based cohort analysis to investigate the fracture risk of IBS in comparison with non-IBS group. We identified 29,505 adults aged ≥ 20 years with newly diagnosed IBS using the Taiwan National Health Insurance Research Database in 2000-2012. A comparison group was constructed of patients without IBS who were matched according to gender and age. The occurrence of fracture was monitored until the end of 2013. We analyzed the risk of fracture events to occur in IBS by using Cox proportional hazards regression models. Patients with IBS had a higher incidence of osteoporotic fractures compared with non-IBS group (12.34 versus 9.45 per 1,000 person-years) and an increased risk of osteoporotic fractures (adjusted hazard ratio [aHR] = 1.27, 95 % confidence interval [CI] = 1.20 – 1.35). Site specific analysis showed that the IBS group had a higher risk of fractures for spine, forearm, hip and hand than did the non-IBS group. With further stratification for gender and age, a higher aHR value for osteoporotic fractures in IBS group was seen across all age groups in males, but seen in elderly females. In addition, female, elderly, low income, hypertension, coronary artery disease, cerebrovascular disease, and depressive disorders as independent osteoporotic fracture risk factors in IBS patients. The IBS is considered as a risk factor for osteoporotic fractures, particularly in female individuals and fracture sites located at the spine, forearm, hip and hand.

Keywords: irritable bowel syndrome, fracture, gender difference, longitudinal health insurance database, public health

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Authors: Shaoyi Lu

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Background: Traditional Chinese medicine has been used to treat stroke, which is a major cause of morbidity and mortality. There is, however, no clear agreement about the optimal timing, population, efficacy, and predictive prognosis factors of traditional Chinese medicine supplemental therapy. Method: In this study, we used a retrospective analysis with data collection from stroke patients in Stroke Registry In Chang Gung Healthcare System (SRICHS). Stroke patients who received traditional Chinese medicine consultation in neurology ward of Keelung Chang Gung Memorial Hospital from Jan 2010 to Dec 2014 were enrolled. Clinical profiles including the neurologic deficit, activities of daily living and other basic characteristics were analyzed. Through propensity score matching, we compared the NIHSS and Barthel index before and after the hospitalization, and applied with subgroup analysis, and adjusted by multivariate regression method. Results: Totally 115 stroke patients were enrolled with experiment group in 23 and control group in 92. The most important factor for prognosis prediction were the scores of National Institutes of Health Stroke Scale and Barthel index right before the hospitalization. Traditional Chinese medicine intervention had no statistically significant influence on the neurological deficit of acute stroke patients, and mild negative influence on daily activity performance of acute hemorrhagic stroke patient. Conclusion: Efficacy of traditional Chinese medicine as a supplemental therapy for acute stroke patients was controversial. The reason for this phenomenon might be complex and require more research to comprehend. Key words: traditional Chinese medicine, acupuncture, Stroke, NIH stroke scale, Barthel index, predictive factor. Method: In this study, we used a retrospective analysis with data collection from stroke patients in Stroke Registry In Chang Gung Healthcare System (SRICHS). Stroke patients who received traditional Chinese medicine consultation in neurology ward of Keelung Chang Gung Memorial Hospital from Jan 2010 to Dec 2014 were enrolled. Clinical profiles including the neurologic deficit, activities of daily living and other basic characteristics were analyzed. Through propensity score matching, we compared the NIHSS and Barthel index before and after the hospitalization, and applied with subgroup analysis, and adjusted by multivariate regression method. Results: Totally 115 stroke patients were enrolled with experiment group in 23 and control group in 92. The most important factor for prognosis prediction were the scores of National Institutes of Health Stroke Scale and Barthel index right before the hospitalization. Traditional Chinese medicine intervention had no statistically significant influence on the neurological deficit of acute stroke patients, and mild negative influence on daily activity performance of acute hemorrhagic stroke patient. Conclusion: Efficacy of traditional Chinese medicine as a supplemental therapy for acute stroke patients was controversial. The reason for this phenomenon might be complex and require more research to comprehend.

Keywords: traditional Chinese medicine, complementary and alternative medicine, stroke, acupuncture

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Authors: Hannah M. Russell

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‘The Attach Project’ (TAP), is an educational intervention aimed at improving educational and socio-emotional outcomes for children who are looked after. TAP is underpinned by Attachment Theory and is adapted from Dyadic Developmental Psychotherapy (DDP), which is a treatment for children and young people impacted by complex trauma and disorders of attachment. TAP has been implemented in primary schools in Northern Ireland throughout the 2018/19 academic year. During this time, a design and implementation study has been conducted to assess the promise of effectiveness for the future dissemination and ‘scaling-up’ of the programme for a larger, randomised control trial. TAP has been designed specifically for implementation in a school setting and is comprised of a whole school element and a more individualised Key Adult-Key Child pairing. This design and implementation study utilises a mixed-methods research design consisting of quantitative, qualitative, and observational measures with stakeholder input and involvement being considered an integral component. The use of quantitative measures, such as self-report questionnaires prior to and eight months following the implementation of TAP, enabled the analysis of the strengths and direction of relations between the various components of the programme, as well as the influence of implementation factors. The use of qualitative measures, incorporating semi-structured interviews and focus groups, enabled the assessment of implementation factors, identification of implementation barriers, and potential methods of addressing these issues. Observational measures facilitated the continual development and improvement of ‘TAP training’ for school staff. Preliminary findings have provided evidence of promise for the effectiveness of TAP and indicate the potential benefits of introducing this type of attachment-based intervention across other educational settings. This type of intervention could benefit not only children who are looked after but all children who may be impacted by complex trauma or disorders of attachment. Furthermore, findings from this study demonstrate that it is possible for children to form a secondary attachment relationship with a significant adult in school. However, various implementation factors which should be addressed were identified throughout the study, such as the necessity of protected time being introduced to facilitate the development of a positive Key Adult- Key Child relationship. Furthermore, additional ‘re-cap’ training is required in future dissemination of the programme, to maximise ‘attachment friendly practice’ in the whole staff team. Qualitative findings have also indicated that there is a general opinion across school staff that this type of Key Adult- Key Child pairing could be more effective if it was introduced as soon as children begin primary school. This research has provided ample evidence for the need to introduce relationally based interventions in schools, to help to ensure that children who are looked after, or who are impacted by complex trauma or disorders of attachment, can thrive in the school environment. In addition, this research has facilitated the identification of important implementation factors and barriers to implementation, which can be addressed prior to the ‘scaling-up’ of TAP for a robust, randomised controlled trial.

Keywords: attachment, complex trauma, educational interventions, implementation

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Authors: Aamna Tufail, Kajal Kotecha, Iordanis Toursounidis, Ravinder Pabla

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Introduction/Aims: Acute Myeloid Leukaemia (AML) is a part of leukaemic group of hematopoietic disorders with a varying range of presentations, including oro-facial manifestations. Early recognition and management are essential for favourable outcomes. Materials and Methods: We present our experience, clinical presentation, and clinical photographs of a patient with previously undiagnosed AML who presented with oral symptoms to the emergency department of our hospital. An analysis of clinical characteristics, diagnostic investigations, and management modalities was performed. Results/Statistics: A 58-year-old man presented to A&E reporting an 11-day history of right sided facial swelling, acute TMJ symptoms, and oral discomfort. A dentist ruled out acute dental causes one day post onset of symptoms. Initial assessment was anatomically inconsistent and did not reveal a routine oral or maxillofacial etiology. Detailed clinical examination demonstrated fever, generalised pallor, swelling and erythema of right nasolabial region, bilateral masseteric tenderness, intraoral palatal ecchymosis, palatal ulceration, buccal and labial petechiae, cervical lymphadenopathy, and haematoma on dorsum of right hand overlying right 2nd metacarpal joint. Suspecting a systemic medical cause, we requested haematological investigations, which revealed neutropenia, thrombocytopenia, and anaemia. Flow cytometry confirmed CD34 + AML. Oral discomfort was managed symptomatically. The patient was referred to a tertiary care centre for acute haematologic care, where he was treated with IV antibiotics and continuing cycles of chemotherapy. Conclusions/Clinical Relevance: Oro-facial manifestations may be the first clinical sign of AML. Awareness of its features is vital in early diagnosis. In this context, dentists and oral medicine specialists can play an important role in detecting clinical signs of haematological disorders such as AML.

Keywords: acute myeloid leukaemia, oral symptoms, ulceration, diagnosis, management

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Authors: Fakhr Eddin Alnaal, Angela Dahdal, Duaa Aladib, Sabeen Ibrahim, Ibrahim Ghoraibi, Bissan Ahmed

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Dementia is one of the diseases which had several stages and Alzheimer’s term was selected in respect for the first doctor Alzheimer who defined the first symptoms of this diseases in a woman whom was well treated by him. The fact that this is a type of a silent disease on which you have a long-term process of neurological degradation and suddenly gives symptoms which are most often irreversible, on clinical level likely we can consider it as a malignancy, one in terms of that it is sudden shocking irreversible and on the level of behavior and some mortality beside the lack of early detection tools for diagnosis. Therefore, the goal of our project is to test the concept of the ability of Statin in prevention of such disease and we investigated that both on experimental level and most importantly on clinical one, the clinical part was performed in a recognized house of aged people who had accidently a high cholesterol and were for years given Statin to treat that elevation, however after the symptoms of Alzheimer’s appeared and when diagnosed, they were well treated and rapidly recovered compared to Alzheimer’s patients in the same house who did not receive Statin had a mild improvement in their symptoms after the therapy, on the other hand we confirmed such observation by a well-organized experimental work.

Keywords: Alzheimer's, dementia, silent disease, statin

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Authors: Natalia V. Naryzhnaya, Alexandr V. Mukhomedzyanov, Ivan A. Derkachev, Boris K. Kurbatov, Leonid N. Maslov

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Background: Techniques of adaptation to hypoxia and remote postconditioning (RPost) have great prospects for use in the clinic. However, recent studies have shown low efficacy of remote postconditioning in patients with AMI. We hypothesize that the reasons for this inefficiency may be metabolic disorders, which are very common, especially in patients with cardiovascular disease, and age of patients. The purpose of the study was to reveal the effectiveness of adaptation to chronic hypoxia and RPost. To determine the possible relationship between the decrease in the effectiveness of projective impacts and disorders of carbohydrate and lipid metabolism. Design: The study was carried out on Wistar rats 60 day old. MetS was induced by high-carbohydrate, high-fat diet (HСHFD). Modeling MS led to the formation of obesity, hypertension, impaired lipid and carbohydrate metabolism, hyperleptinemia, and moderate stress. Groups with adaptation to chronic hypoxia were subjected to hypoxia for 21 days at 12% O2 and 0.3% CO2 after complete of HСHFD. All animals were subjected to 45 min coronary occlusion and 120 min reperfusion. Groups with RPost, immediately after the end of ischemia, tourniquets were applied to the hind limbs in the area of the hip joint (3 times in the mode of 5 min ischemia, 5 min reperfusion). Results: RPost led to a twofold reduction of infarct size in rats with intact metabolism (р < 0.0001), while in rats with MetS, a decrease in infarct size during RPost was 25 % (p = 0.00003). A direct correlation was found between of infarct size during RPost and the serum leptin level of rats with MetC (r = 0.85). The presented data suggested that a decrease in the efficiency of remote postconditioning in rats with diet-induced metabolic syndrome depends on serum leptin. Chronic hypoxia resulted in a 38% reduced in infarct size in metabolically intact rats. The decrease of cardioprotection was observed in rats with chronic hypoxia and MetS. Infarct size showed a direct correlation with impaired glucose tolerance (AUC, glucose tolerance test, r = 0.034) and serum triglyceride levels (r = 0.39). Our study showed the dependence of cardioprotection in rats with metabolic syndrome during chronic hypoxia and DPost on opioids in the blood serum and myocardium, protein kinase C and NO synthase activity. Conclusion: The results obtained showed that the infarct-limiting efficiency of adaptation to hypoxia and remote postconditioning is reduced or completely absent in animals with metabolic syndrome. The increase in the infarction, in this case, directly depends on the disturbances in carbohydrate. lipid metabolism and opioids signaling. Funding: Investigation of effectiveness of chronic hypoxia at the metabolic syndrome was carried out within the support of Russian Science Foundation Grant 22-15-00048. Studies of the mechanisms of arterial hypertension in induced metabolic syndrome were carried out within the framework of the state assignment (122020300042-4). The work was performed using the Center for Collective Use "Medical Genomics".

Keywords: chronic hypoxia, opioids, remote postconditioning, metabolic syndrome

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Authors: Neda Dekamei, Mostafa Sarabzadeh, Masoumeh Bigdeli

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Backward running is commonly used in different sports conditioning, motor learning, and neurological purposes, and even more commonly in physical rehabilitation. The present study evaluated the effects of six weeks backward and forward running methods on balance promotion adaptation in students. 12 male and female preseniors with the age range of 45-60 years participated and were randomly classified into two groups of backward running (n: 6) and forward running (n: 6) training interventions. During six weeks, 3 sessions per week, all subjects underwent stated different models of backward and forward running training on treadmill (65-80 of HR max). Pre and post-tests were performed by force plate and electromyogram, two times before and after intervention. Data were analyzed using by T test. On the basis of obtained data, significant differences were recorded on balance and plantar flexion force in backward running (BR) and no difference for forward running (FR). It seems the training model of backward running can generate more stimulus to achieve better plantar flexion force and strengthening ankle protectors which leads to balance improvement in pre aging period. It can be recommended as an effective method to promote seniors life quality especially in balance neuromuscular parameters.

Keywords: backward running, balance, plantar flexion, pre seniors

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Authors: Kakali Roy, Sahana P. Raju, Subhra Dhar, Sandipan Dhar

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Introduction: Xeroderma pigmentosa (XP) is a rare inherited (autosomal recessive) disease resulting from impairment in DNA repair that involves recognition and repair of ultraviolet radiation (UVR) induced DNA damage in the nucleotide excision repair pathway. Which results in increased photosensitivity, UVR induced damage to skin and eye, increased susceptibility of skin and ocular cancer, and progressive neurodegeneration in some patients. XP is present worldwide, with higher incidence in areas having frequent consanguinity. Being extremely rare, there is limited literature on XP and associated complications. Here, the clinico-pathological experience (spectrum of clinical presentation, histopathological findings of malignant skin lesions, and progression) of managing 8 cases of XP is presented. Methodology: A retrospective study was conducted in a pediatric tertiary care hospital in eastern India during a ten-year period from 2013 to 2022. A clinical diagnosis was made based on severe sun burn or premature photo-aging and/or onset of cutaneous malignancies at early age (1st decade) in background of consanguinity and autosomal recessive inheritance pattern in family. Results: The mean age of presentation was 1.2 years (range of 7month-3years), while three children presented during their infancy. Male to female ratio was 5:3, and all were born of consanguineous marriage. They presented with dermatological manifestations (100%) followed by ophthalmic (75%) and/or neurological symptoms (25%). Patients had normal skin at birth but soon developed extreme sensitivity to UVR in the form of exaggerated sun tanning, burning, and blistering on minimal sun exposure, followed by abnormal skin pigmentation like freckles and lentiginosis. Subsequently, over time there was progressive xerosis, atrophy, wrinkling, and poikiloderma. Six patients had varied degree of ocular involvement, while three of them had severe manifestation, including madarosis, tylosis, ectropion, Lagopthalmos, Pthysis bulbi, clouding and scarring of the cornea with complete or partial loss of vision, and ophthalmic malignancies. 50% (n=4) cases had skin and ocular pre-malignant (actinic keratosis) and malignant lesions, including melanoma and non melanoma skin cancer (NMSC) like squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) in their early childhood. One patient had simultaneous occurrence of multiple malignancies together (SCC, BCC, and melanoma). Subnormal intelligence was noticed as neurological feature, and none had sensory neural hearing loss, microcephaly, neuroregression, or neurdeficit. All the patients had been being managed by a multidisciplinary team of pediatricians, dermatologists, ophthalmologists, neurologists and psychiatrists. Conclusion: Although till date there is no complete cure for XP and the disease is ultimately fatal. But increased awareness, early diagnosis followed by persistent vigorous protection from UVR, and regular screening for early detection of malignancies along with psychological support can drastically improve patients’ quality of life and life expectancy. Further research is required on formulating optimal management of XP, specifically the role and possibilities of gene therapy in XP.

Keywords: childhood malignancies, dermato-pathological findings, eastern India, Xeroderma pigmentosa

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Authors: Eric Beyegue, Boris Azantza, Judith Laure Ngondi, Julius E. Oben

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Background: Insulin resistance (IR) and oxidative stress are associated with obesity, diabetes mellitus, and other cardio metabolic disorders. The aim of this study was to investigate the effect of Coula edulis extracts (CEE) on insulin resistance and oxidative stress markers in high-fat/high sucrose diet-induced insulin resistance in rats. Materials and Methods: Thirty male rats were divided into 6 groups of 5 rats each fed, received daily oral administration of CE extracts for 8 weeks as follows: Group 1 or negative control group, fed with standard diet (SD); Group 2 fed with high-fat/high sucrose diet (HFHS) only; Group3 fed with HFHS + CEAq 200; Group 4 fed with HFHS + CEAq 400; Group 5 fed with HFHS + CEEt 200; Group 6 fed with HFHS + CEEt 400. At the end of the experiment (8 weeks), animals were sacrificed plasma lipid profile, glucose, insulin, oxidative marker and digestive enzyme activities were measured. The homeostasis model assessment for insulin resistance (HOMA-IR) was determined. Results: Feedings with HFHS significantly (p < 0.01) induced plasma hyperglycaemia, hyperinsulinaemia, increased triglyceride, total cholesterol, and low-density lipoprotein levels, decreased high-density lipoprotein levels, alterations of α amylase, and glucose-6-phosphatase activities, and oxidative stress. Daily oral administration with CEE for eight weeks after insulin resistance induction had a hypolipidaemic action, antioxidative activities and modulated metabolic markers. Ethanolic extract at the higher dose had the best effect on body weight gain and insulin resistance, whereas aqueous extract showed the better activity on hyperlipidemia. Conclusion: These results suggest that CEAq and CEEt at 400mg/kg are promising complementary supplements that can be used to protect better from metabolic disorders associated with HFHS.

Keywords: Coula edulis Baill, high-fat / high sucrose diet, insulin resistance, oxidative stress

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Authors: S. Alireza Mirghasemi, Narges Rahimi Gabaran

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Although sacral fractures in children are rare due to the fact that the occurrence of pelvic fracture is not common in childhood. Sacral fractures present a high risk of neurological damage. This kind of fracture is often missed because the routine pelvic X-rays imaging scarcely show this fracture. Also, the treatment is controversial, and it ranges from fine reduction to conservative treatments without any try to reduce the dislocation. In this article, a case of fracture dislocation of S1 and S2 along with a suggested diagnostic test and treatment based on similar cases are presented. The case investigates a 14-year-old boy who entered the hospital one week after a car accident that knocked him to the ground in crawling position and a rack fell down on his body. Pain and tenderness in the sacral region and a fracture in the left leg were notable--we detected incomplete bilateral palsy of L5, S1 and S2 roots. In radiographs of the spine fracture dislocation of S1, the sacral fracture was seen. The treatment included a skeletal traction with a halo over the patient’s head and two femoral pins. After one week, another surgery was performed in order to stabilize and reduce the fracture, and we employed a posterior approach with CD and a pedicular screw. After two years of follow-up, the fracture is completely cured without any loss of reduction.

Keywords: adolescent, fracture in adolescent, fracture dislocation, sacrum

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Authors: Soumaya Mrabet, Taieb Ach, Imen Akkari, Amira Atig, Neirouz Ghannouchi, Koussay Ach, Elhem Ben Jazia

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Introduction: Celiac disease (CD) and type 1 diabetes mellitus (T1D) are complex disorders with shared genetic components. The association between CD and T1D has been reported in many pediatric series. The aim of our study is to describe the epidemiological, clinical and evolutive characteristics of adult patients presenting this association. Material and Methods: This is a retrospective study including patients diagnosed with CD and T1D, explored in Internal Medicine, Gastroenterology and Endocrinology and Diabetology Departments of the Farhat Hached University Hospital, between January 2005 and June 2016. Results: Among 57 patients with CD, 15 patients had also T1D (26.3%). There are 11 women and 4 men with a median age of 27 years (16-48). All patients developed T1D prior to the diagnosis of CD with an average duration of 47 months between the two diagnosis (6 months-5 years). CD was revealed by recurrent abdominal pain in 11 cases, diarrhea in 10 cases, bloating in 8 cases, constipation in 6 cases and vomiting in 2 cases. Three patients presented cycle disorders with secondary amenorrhea in 2 patients. Anti-Endomysium, anti-transglutaminase and Anti-gliadin antibodies were positive respectively in 57, 54 and 11 cases. The biological tests revealed anemia in 10 cases, secondary to iron deficiency in 6 cases and folate and vitamin B12 deficiency in 4 cases, hypoalbuminaemia in 4 cases, hypocalcemia in 3 cases and hypocholesterolemia in 1 patient. Upper gastrointestinal endoscopy showed an effacement of the folds of the duodenal mucosa in 6 cases and a congestive duodenal mucosa in 3 cases. The macroscopic appearance was normal in the others cases. Microscopic examination showed an aspect of villous atrophy in 57 cases, which was partial in 10 cases and total in 47 cases. After an average follow-up of 3 years 2 months, the evolution was favorable in all patients under gluten-free diet with the necessity of less important doses of insulin in 10 patients. Conclusion: In our study, the prevalence of T1D in adult patients with CD was 26.3%. This association can be attributed to overlapping genetic HLA risk loci. In recent studies, the role of gluten as an important player in the pathogenesis of CD and T1D has been also suggested.

Keywords: celiac disease, gluten, prevalence, type 1 diabetes

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Authors: Adriana Salgado, Sandra Castaneda, Ivan Perez

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Learning to read and write is a complex process involving several cognitive skills, contextual, and cultural environments. The basis of this development is linguistic skills, such as the ability to name and understand vocabulary, retell a story, phonological awareness, letter knowledge, among others. In children with autism spectrum disorder (ASD), one of the main concerns is related to language disorders. Nevertheless, most of the children with ASD are able to decode written information but have difficulties in reading comprehension. The research of these processes in the Spanish-speaking population is limited. However, the increasing prevalence of this diagnosis (1 in 115 children) in Mexico has implications at different levels. Educational research is an important area of interest in ASD children, such as emergent literacy. Reading and writing expand the possibilities of academic, cultural, and social information access. Taking this information into account, the objective of this research was to identify the relationship between language skills, alphabet knowledge, phonological awareness, and early reading and writing in ASD Spanish-speaking children. The method used for this research was based on tasks that were selected, adapted and in some cases designed to measure initial reading and writing, as well as language skills (naming, receptive vocabulary, and narrative skills), phonological awareness (similar phonological word pairs, beginning sound awareness and spelling) and letter knowledge, in a sample of 45 children (38 boys and 7 girls) with prior diagnosis of ASD. Descriptive analyses, as well as bivariate correlations, cluster analysis, and canonical correspondence, were obtained for the data results. Results showed that variability was large; however, it was possible to characterize the sample in low, medium, and high score groups regarding children performance. The low score group (46.7% of the sample), had a null or deficient performance in language skills and phonological awareness, some could identify up to five letters of the alphabet, showed no early reading skills but they could scribble. The middle score group was characterized by a highly variable performance in different tasks, with better language skills in receptive and naming vocabulary, some narrative, letter knowledge, and phonological awareness (beginning sound awareness) skills. The high score group, (24.4% of the sample) had the best performance in language skills in relation to the sample data, as well as in the rest of the measured skills. Finally, scores were canonically correlated between naming, receptive vocabulary, narrative, phonological awareness, letter knowledge and initial learning of reading and writing skills for the high score group and letter knowledge, naming and receptive vocabulary for the lower score group, which is consistent with previous research in typical and ASD children. In conclusion, the obtained data is consistent with previous studies. Despite large variability, it was possible to identify performance profiles and relations based on linguistic, phonological awareness, and letter knowledge skills. These skills were predictor variables of the initial development of reading and writing. The above has implications for a future program and strategies development that may benefit the acquisition of reading and writing in ASD children.

Keywords: autism, autism spectrum disorders, early literacy, emergent literacy

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Authors: Rajiv Jash, Himangshusekhar Maji

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Phytomolecules have long been associated with the effective treatment of various disorders since ages. This study focuses on identifying the immunomodulatory pure molecules isolated from plants, which can be studied for their effect in alleviating IgAN. All the phytomolecules mentioned here have inflammation-reducing properties, and IgAN, being an autoimmune disease, can be a good target of these phytomolecules. Various pathological pathways of IgA nephropathy can be targeted with these phytomolecules, and this study is an effort to find out the rationale behind the choice of the molecules based on their ability to target the effector molecules of those pathological pathways.

Keywords: IgAN, fibrosis, inflammation, ESRD, TGFβ

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Authors: Munkhtuul G., Bolortsetseg Z., Lutzul M., Sugar N., Nyamdorj D., Nomundari B., Zesemdorj O., Erdenebayar N., Lkhagvasuren T. S., Munkhbayarlakh S., Bayasgalan T. Uurtuya S. H.

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Background: Elevated serum uric acid (SUA) levels are observed in metabolic and cardiovascular conditions as an early predictor of metabolic syndrome (MS). Hyperuricemia, characterised by high uric acid levels in serum, increases the risk of developing MS by 1.6 times. Being overweight and obese significantly contributes to developing MS and cardiovascular disorders. In Mongolia, the prevalence of overweight and obesity is reaching 48.8% among individuals aged 15 to 49 years, indicating a potential surge in the incidence of MS, cardiovascular disorders, diabetes mellitus, and gout.Objective: This study aimed to determine the SUA levels in men diagnosed with MS and investigate the factors influencing these levels.Methods: A total of 119 men aged 30-60, who underwent preventive examinations and resided in Ulaanbaatar city, were included in the study. The criteria established by the International Diabetes Federation (IDF), American Heart Association (AHA), and the National Heart, Lung, and Blood Institute (NHLBI) were employed to define metabolic syndrome. Hyperuricemia was defined as SUA levels ≥7 mg/dL. Dietary intake was evaluated through the 24-hour recall method.Results: The study revealed that the prevalence of MS among the participants was 42.9% (n=51), with hyperuricemia observed in 16.8% (n=20) of the individuals. Among men diagnosed with MS, 21.3% (n=10) exhibited hyperuricemia. The mean SUA levels were as follows: 4.7±0.8 mg/dL in the healthy group, 5.9±1.1 mg/dL in men without MS but presenting central obesity, and 6.2±1.3 mg/dL in men with MS. After adjusting for age and body mass index (BMI), a positive correlation was observed between SUA levels and triglycerides (β=0.93) as well as lipid accumulation product (LAP) (β=0.92) in men with MS. In the central obesity group, SUA levels exhibited a positive correlation with triglycerides (β=0.91), visceral adiposity index (VAI) (β=0.73), LAP (β=0.92), and cardiometabolic index (CMI) (β=0.69). The risk of hyperuricemia increased by 3.29 times with elevated triglycerides and 3.53 times with an increased LAP.Conclusion: The findings indicate that abdominal fat accumulation, as indicated by elevated triglyceride levels and LAP, is associated with increased SUA levels in men with MS. However, no significant relationship was observed between SUA levels and dietary intake.

Keywords: central obesity, obesity, triglycerides, hyperuricemia

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Authors: Njoroge Margaret W., Johnson Deborah

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Gender-specific risk factors for common mental disorders that disproportionately affect women include but are not limited to gender-based violence, socioeconomic disadvantage, sociocultural factors and unrelenting responsibility for the care of others. The overall objective of this study was to assess mental health conditions and their risk factors among women in Garissa County, Kenya. The study adopted both quantitative and qualitative research designs. The study participants were 100 adult women and 20 key informants from different sectors in the region. Data was collected using DSM-5 (PCL-5) and Kessler Psychological Distress, interviews schedule and focus group discussions. Analysis of quantitative data was done using univariate analysis, while qualitative data was analyzed using thematic analysis. The results revealed that about 60% of women presented with moderate to severe psychological distress (PD), while 53% presented with PTSD. Additionally, women who have undergone female genital mutilation had higher PTSD and PD scores. They also presented with low self-esteem, depressive symptoms, sex anxiety, avoidance of reminders and intrusive memories of the event, especially those who developed fistula. The risk factors for poor mental health outcomes include lack of awareness/knowledge of mental health, retrogressive cultural practices (child marriage and female genital mutilation), as well as beliefs about the causes of mental disorders. The study also established that people with mental illness are neglected, abused and stigmatized. Preferred treatment approaches include prayers and the use of witch doctors and traditional healers. The study recommends gendered and culturally responsive interventions geared towards increasing community awareness and knowledge on mental health, reducing stigma and improving mental-health-seeking behaviors for women and girls in the region. Supported by the Ministry of Health, the approach should be spearheaded by trained community lay counselors.

Keywords: women, mental health conditions, cultural beliefs/practices, stigma, poverty, psychological distress, PTSD

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Authors: Ibrahim M. I. Hamoda, Ahmed R. Z. Baghdadi, Mohammed K. Mohamed, Nawal A. Abu-Shady

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Background: Most of patients with vestibular dysfunction suffering from balance disorders, Abnormality in balance increase effort and exertion which affect the independency, so this study might be a guide in managing balance problem and consequently improve walking with less exertion and maximum function. Purpose: to analyze and discuss the effect of transcranial magnetic therapy on balance in patients with vestibular dysfunction. Methods: forty subjects from both sexes were classified to divided randomly into two equal groups; Group I study group: this group received transcranial magnetic therapy, with a selected physical therapy program for improving balance and vestibular disorders (Balance training, Cawthorne-Cooksey Exercises) and group II (control group): this group received a selected physical therapy program as group I without transcranial magnetic therapy. This treatment procedure will be applied three times weekly for three months. The mean age was 54.53±3.44 and 55.33±2.32 years and BMI 35.7±3.03 and 35.73±1.03 kg/m2 for group I and II respectively. The Biodex Balance System, Berge balances scale (BBS) and brain MRI were used for assessment. Assessments were conducted before and after treatment. The treatment program for group I included balance training, Cawthorne-Cooksey Exercises and pulsed magnetic therapy (Parameters used in the program of 20 minutes, Intensity 2 gausses, Frequency 1 Hz). This selected program was done in approximately one hour every other day for three month. The treatment program group II Patients received the same program as group A without transcranial magnetic therapy. Results: The One-way ANOVA revealed that there were no significant differences in BBS scores, overall balance index, Anterior / posterior balance index, Medial / lateral balance index and dynamic limits of stability between both groups. Moreover, the BBS scores increased and overall balance index, Anterior / posterior balance index, Medial / lateral balance index and dynamic limits of stability decreased significantly after treatment in group I and II compared with before treatment. Interpretation/Conclusion: Adding pulsed magnetic therapy to balance training, Cawthorne-Cooksey Exercises has no effect on static and dynamic balance in patients with balance problems due to benign positional paroxysmal vertigo.

Keywords: balance, transcranial magnetic therapy, vestibular dysfunction, biomechanic

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Authors: Ghoul Rachid Brahim

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Introduction: Tuberculous spondylodiscitis is an infection of the spine by Mycobacterium tuberculosis. Tuberculous spondylodiscitis still remains a topical disease in developing countries and continues to pose a public health problem in endemic countries. Materials and methods: Clinical case: This is a 12-year-old child followed in pediatrics for weight loss and progressively worsening low back pain. The neurological examination found an irritative pyramidal syndrome in both lower limbs with a severe lumbar spinal syndrome. The radiological assessment: (Rx of the spine supplemented by CT and MRI) shows L1L2 spondylodiscitis. Treatment: The child is put on anti-tuberculosis treatment, and the spine is restrained with a corset. Control MRI shows a worsening of the dorsal kyphosis with a backward movement of the posterior wall and spinal cord compression. The child is operated on via the posterior approach (the operative procedure consists of an L1 laminectomy and D11 L3 osteosynthesis). Results: Spinal cord décompression and stabilization of the spine. Conclusion: Tuberculous spondylodiscitis in children remains a rare, aggressive, and progressive condition. The prognosis depends on the diagnosis's precocity and the therapeutic management quality.

Keywords: tuberculous spondylodiscitis, mycobacterium tuberculosis, laminectomy, MRI

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Authors: Benmansour Nassima, Benmansour Souheyla

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The appropriate integration of reward processing and decision making provided by the environment is vital for behavioural success and individuals’ well being in everyday life. Functional neurological investigation has already provided an inclusive image on affective and emotional (motivational) processing in the healthy human brain and has recently focused its interest also on the assessment of brain function in anxious and depressed individuals. This article offers an overview on the theoretical approaches that relate emotion and decision-making, and spotlights investigation with anxious or depressed individuals to reveal how emotions can interfere with decision-making. This research aims at incorporating the emotional structure based on response and stimulation with a Bayesian approach to decision-making in terms of probability and value processing. It seeks to show how studies of individuals with emotional dysfunctions bear out that alterations of decision-making can be considered in terms of altered probability and value subtraction. The utmost objective is to critically determine if the probabilistic representation of belief affords could be a critical approach to scrutinize alterations in probability and value representation in subjective with anxiety and depression, and draw round the general implications of this approach.

Keywords: decision-making, motivation, alteration, reward processing, response selection

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Authors: Salima Bijapuri, Shweta Bhatbolan, Sejalben Patel

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Ergonomics concerns the fitting of the environment and the equipment to the worker. Ergonomic principles can be employed in different dimensions of the industrial sector. Participation of all the stakeholders is the key to the formulation of a multifaceted and comprehensive approach to lessen the burden of occupational hazards. Taking responsibility for one’s own work activities by acquiring sufficient knowledge and potential to influence the practices and outcomes is the basis of participatory ergonomics and even hastens the process to identify workplace hazards. The study was aimed to check how participatory ergonomics can be effective in the management of work-related musculoskeletal disorders. Method: A mega kitchen was identified in a twin city of Karnataka, India. Consent was taken, and the screening of workers was done using observation methods. Kitchen work was structured to include different tasks, which included preparation, cooking, distributing, and serving food, packing food to be delivered to schools, dishwashing, cleaning and maintenance of kitchen and equipment, and receiving and storing raw material. Total 100 workers attended the education session on participatory ergonomics and its role in implementing the correct ergonomic practices, thus preventing WRMSDs. Demographic details and baseline data on related musculoskeletal pain and discomfort were collected using the Nordic pain questionnaire and VAS score pre- and post-study. Monthly visits were made, and the education sessions were reiterated on each visit, thus reminding, correcting, and problem-solving of each worker. After 9 months with a total of 4 such education session, the post education data was collected. The software SPSS 20 was used to analyse the collected data. Results: The majority of them (78%), depending on the availability and feasibility, participated in the intervention workshops were arranged four times. The average age of the participants was 39 years. The percentage of female participants was 79.49%, and 20.51% of participants comprised of males. The Nordic Musculoskeletal Questionnaire (NMQ) showed that knee pain was the most commonly reported complaint (62%) from the last 12 months with a mean VAS of 6.27, followed by low back pain. Post intervention, the mean VAS Score was reduced significantly to 2.38. The comparison of pre-post scores was made using Wilcoxon matched pairs test. Upon enquiring, it was found that, the participants learned the importance of applying ergonomics at their workplace which inturn was beneficial for them to handle any problems arising at their workplace on their own with self confidence. Conclusion: The participatory ergonomics proved effective with workers of mega kitchen, and it is a feasible and practical approach. The advantage of the given study area was that it had a sophisticated and ergonomically designed workstation; thus it was the lack of education and practical knowledge to use these stations was of utmost need. There was a significant reduction in VAS scores with the implementation of changes in the working style, and the knowledge of ergonomics helped to decrease physical load and improve musculoskeletal health.

Keywords: ergonomic awareness session, mega kitchen, participatory ergonomics, work related musculoskeletal disorders

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Authors: Léa Chawki, Émilie Cappe

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Context: Nowadays, supporting parents of children with autism spectrum disorder (ASD) and helping them adjust to their child’s condition represents a core clinical and scientific necessity and is encouraged by the French National Strategy for Autism (2018). In France, ASD remains a challenging condition, causing distress, segregation and social stigma to concerned family members concerned by this handicap. The literature highlights that neurodevelopmental disorders in children, such as ASD, influence parental well-being. This impact could be different according to parents’ culture and the child’s particular disorder manifestation, such as developmental coordination disorder (DCC), for instance. Objectives: This present study aims to explore parental stress, anxiety and depressive symptoms, as well as the quality of life in parents of children with ASD or DCD, as well as the explicit individual, psychosocial and cultural factors of parental well-being. Methods: Participants will be recruited through diagnostic centers, child and specialized adolescent units, and organizations representing families with ASD and DCD. Our sample will include five groups of 150 parents: four groups of parents having children with ASD – one living in France, one in the US, one in Canada and the other in Lebanon – and one group of French parents of children with DCD. Self-evaluation measures will be filled directly by parents in order to measure parental stress, anxiety and depressive symptoms, quality of life, coping and emotional regulation strategies, internalized stigma, perceived social support, the child’s problem behaviors severity, as well as motor coordination deficits in children with ASD and DCD. A sociodemographic questionnaire will help collect additional useful data regarding participants and their children. Individual and semi-structured research interviews will be conducted to complete quantitative data by further exploring participants’ distinct experiences related to parenting a child with a neurodevelopmental disorder. An interview grid, specially designed for the needs of this study, will strengthen the comparison between the experiences of parents of children with ASD with those of parents of children with DCD. It will also help investigate cultural differences regarding parent support policies in the context of raising a child with ASD. Moreover, interviews will help clarify the link between certain research variables (behavioral differences between ASD and DCD, family leisure activities, family and children’s extracurricular life, etc.) and parental well-being. Research perspectives: Results of this study will provide a more holistic understanding of the roles of individual, psychosocial and cultural variables related to parental well-being. Thus, this study will help direct the implementation of support services offered to families of children with neurodevelopmental disorders (ASD and DCD). Also, the implications of this study are essential in order to guide families through changes related to public policies assisting neurodevelopmental disorders and other disabilities. The between-group comparison (ASD and DCD) is also expected to help clarify the origins of all the different challenges encountered by those families. Hence, it will be interesting to investigate whether complications perceived by parents are more likely to arise from child-symptom severity, or from the lack of support obtained from health and educational systems.

Keywords: Autism spectrum disorder, cross-cultural, cross-disorder, developmental coordination delay, well-being

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Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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Authors: P. Ayawei, A. D. Spiff

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It is certain that most African diasporans have experienced several types of traumas, which have conjured unprecedented psychological disorders needing adequate psychomorphological psychometrics. However, slavery was a long-term, multidimensional experience involving black victimization as well as effective black coping. In assessing, collecting, and analyzing the needed data, we first identify a group that has experienced a jolting, unpredictable, and monstrous assault. Second, we assess the depth of the trauma and an unambiguous period that marks the termination of the trauma using the alliterational psychomorphological psychometrics deca perimeter.

Keywords: slavery, Diaspora, Africa, psychomorphology, psychometrics, ancestry, disorder, phobias and trauma

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Authors: Terry Teo, Sun Woh Lye, Yufei Li, Zainuddin Zakaria

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Wearable devices such as Electroencephalography (EEG) hold immense potential in the monitoring and assessment of a person’s task engagement. This is especially so in remote or online sites. Research into its use in measuring an individual's cognitive state while performing task activities is therefore expected to increase. Despite the growing number of EEG research into brain functioning activities of a person, key challenges remain in adopting EEG for real-time operations. These include limited portability, long preparation time, high number of channel dimensionality, intrusiveness, as well as level of accuracy in acquiring neurological data. This paper proposes an approach using a 4-6 EEG channels to determine the cognitive states of a subject when undertaking a set of passive and active monitoring tasks of a subject. Air traffic controller (ATC) dynamic-tasks are used as a proxy. The work found that when using the channel reduction and identifier algorithm, good trend adherence of 89.1% can be obtained between a commercially available BCI 14 channel Emotiv EPOC+ EEG headset and that of a carefully selected set of reduced 4-6 channels. The approach can also identify different levels of engagement activities ranging from general monitoring ad hoc and repeated active monitoring activities involving information search, extraction, and memory activities.

Keywords: assessment, neurophysiology, monitoring, EEG

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Authors: Teja Koduru

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Untreated Lyme disease can lead to neurological, cardiac, and dermatological complications. Rapid diagnosis of the erythema migrans (EM) rash, a characteristic symptom of Lyme disease is therefore crucial to early diagnosis and treatment. In this study, we aim to utilize deep learning frameworks including Tensorflow and Keras to create deep convolutional neural networks (DCNN) to detect images of acute Lyme Disease from images of erythema migrans. This study uses a custom database of erythema migrans images of varying quality to train a DCNN capable of classifying images of EM rashes vs. non-EM rashes. Images from publicly available sources were mined to create an initial database. Machine-based removal of duplicate images was then performed, followed by a thorough examination of all images by a clinician. The resulting database was combined with images of confounding rashes and regular skin, resulting in a total of 683 images. This database was then used to create a DCNN with an accuracy of 93% when classifying images of rashes as EM vs. non EM. Finally, this model was converted into a web and mobile application to allow for rapid diagnosis of EM rashes by both patients and clinicians. This tool could be used for patient prescreening prior to treatment and lead to a lower mortality rate from Lyme disease.

Keywords: Lyme, untreated Lyme, erythema migrans rash, EM rash

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