Search results for: young patients

Authors: Ndibarafinia Young Tobin, Simon Burnett

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In spite of the benefits of implementing whole life costing technique as a valuable approach for comparing alternative building designs allowing operational cost benefits to be evaluated against any initial cost increases and also as part of procurement in the construction industry, its adoption has been relatively slow due to the lack of tangible evidence, ‘know-how’ skills and knowledge of the practice, i.e. the lack of professionals in many establishments with knowledge and training on the use of whole life costing technique, this situation is compounded by the absence of available data on whole life costing from relevant projects, lack of data collection mechanisms and so on. This has proved to be very challenging to those who showed some willingness to employ the technique in a construction project. The knowledge generated from a project can be considered as best practices learned on how to carry out tasks in a more efficient way, or some negative lessons learned which have led to losses and slowed down the progress of the project and performance. Knowledge management in whole life costing practice can enhance whole life costing analysis execution in a construction project, as lessons learned from one project can be carried on to future projects, resulting in continuous improvement, providing knowledge that can be used in the operation and maintenance phases of an assets life span. Purpose: The purpose of this paper is to report an effective approach which can be utilised in capturing knowledge in whole life costing practice in a construction project. Design/methodology/approach: An extensive literature review was first conducted on the concept of knowledge management and whole life costing. This was followed by a semi-structured interview to explore the existing and good practice knowledge management in whole life costing practice in a construction project. The data gathered from the semi-structured interview was analyzed using content analysis and used to structure an effective knowledge capturing approach. Findings: From the results obtained in the study, it shows that the practice of project review is the common method used in the capturing of knowledge and should be undertaken in an organized and accurate manner, and results should be presented in the form of instructions or in a checklist format, forming short and precise insights. The approach developed advised that irrespective of how effective the approach to knowledge capture, the absence of an environment for sharing knowledge, would render the approach ineffective. Open culture and resources are critical for providing a knowledge sharing setting, and leadership has to sustain whole life costing knowledge capture, giving full support for its implementation. The knowledge capturing approach has been evaluated by practitioners who are experts in the area of whole life costing practice. The results have indicated that the approach to knowledge capture is suitable and efficient.

Keywords: whole life costing, knowledge capture, project review, construction industry, knowledge management

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Authors: Fernanda F. Zimmermann, Beverley Burrell, Jennifer Jordan

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Introduction: Supportive care for people affected by cancer is recognised as a priority for research but yet there is little solid evidence of the effectiveness of psychological treatments for those with advanced cancer. The literature suggests that mindfulness-based interventions may be acceptable and beneficial for this population. This study aims to develop a mindfulness intervention to provide emotional support for advanced cancer population. The treatment package includes mindfulness meditation, developing an acceptance attitude and reflections on meaning in life. Methods: This study design is a one-group pre-post test with a mixed methods approach. Participants are recruited through public and private hospitals in Christchurch, NZ. Quantitative measures are the Acceptance and Action Questionnaire-II, Mindful Coping Scale and, the Meaning in Life Questionnaire. Qualitative semi-structured interviews enquire about emotional support before and after the diagnosis, participants’ thoughts about meaning in life, expectations and reflections on the mindfulness training. Qualitative data will be analysed using thematic analysis. Treatment consists of one to one 30 minutes session weekly for 4 weeks using a pre-recorded CD/podcast of the mindfulness training. This research is part of the presenter’s PhD study. Findings: This project is currently underway. The presenter will provide preliminary data on the acceptability of the mindfulness training package being delivered to participants along with the recruitment strategies. We anticipate that this novel treatment used as a self-management tool will reduce psychological distress and enable better coping for patients with advanced cancer.

Keywords: acceptance, cancer, meaning in life, mindfulness

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Authors: V. V. Lakshmi, Y. V. S. Annapurna

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Urinary tract infection (UTI) is one of the most common infectious diseases seen in the community. Susceptible individuals experience multiple episodes, and progress to acute pyelonephritis or uro-sepsis or develop asymptomatic bacteriuria (ABU). Ability to cause extraintestinal infections depends on several virulence factors required for survival at extraintestinal sites. Presence of virulence phenotypes enhances the pathogenicity of these otherwise commensal organisms and thus augments its ability to cause extraintestinal infections, the most frequent in urinary tract infections(UTI). The present study focuses on detection of the virulence characters exhibited by the uropathogenic organism and most common factors exhibited in the local pathogens. A total of 700 isolates of E.coli and Klebsiella spp were included in the study. These were isolated from patients from local hospitals reported to be suffering with UTI over a period of three years. Isolation and identification was done based on Gram character and IMVIC reactions. Antibiotic sensitivity profile was carried out by disc diffusion method and multi drug resistant strains with MAR index of 0.7 were further selected.. Virulence features examined included their ability to produce exopolysaccharides, protease- gelatinase production, hemolysin production, haemagglutination and hydrophobicity test. Exopolysaccharide production was most predominant virulence feature among the isolates when checked by congo red method. The biofilms production examined by microtitre plates using ELISA reader confirmed that this is the major factor contributing to virulencity of the pathogens followed by hemolysin production

Keywords: Escherichia coli, Klebsiella sp, Uropathogens, Virulence features.

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Authors: Benoit Jauniaux, Azzam Ismail

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Objectives: The aims were to identify all incident adult cases of idiopathic inflammatory myopathies (IIMs) in the City of Leeds, UK, and to estimate the risk of cancer in IIMs as compared with the general population. Methods: Cases of IIMs were ascertained by review of all muscle biopsy reports from the Neuropathology Laboratory. A review of medical records was undertaken for each case to review the clinical diagnosis and collect epidemiological data such as age, ethnicity, sex, and comorbidities, including cancer. Leeds denominator population numbers were publicly obtainable. Results: Two hundred and six biopsy reports were identified, and after review, 50 incident cases were included in the study between June 2010 and January 2021. Out of the 50 cases, 27 were male, and 23 were female. The mean incidence rate of IIMs in Leeds throughout the study period was 7.42/1 000 000 person years. The proportion of IIMs cases with a confirmed malignancy was 22%. Compared to the general population, the relative risk of cancer was significantly greater in the IIMs population(31.56, P < 0.01). Conclusions: The incidence rate of IIMs in Leeds was consistent with data from previous literature, however, disagreement exists between different methods of IIMs case inclusion due to varying clinical criteria and definitions. IIMs are associated with increased risk of cancer however, the pathogenesis of this relationship still requires investigating. This study supports the practice of malignancy screening and long-term surveillance in patients with IIMs.

Keywords: idiopathic inflammatory myopathies, myositis, polymyositis, dermatomyositis, malignancy, epidemiology, incidence rate, relative risk

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Authors: Sinead Creedon, Anna Trace

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Nurses were the most exposed of all frontline healthcare workers during the COVID-19 pandemic. Mainly female nurses working in the acute hospital sector formed the frontline defence in the Irish health service. They faced it with resilience and courage despite exposure to risk of burnout and threats to their mental health and wellbeing. Gaining an understanding of the nurses’ journey in adapting to this harsh climate could inform positive psychology interventions and / or support staff such as senior hospital managers in an adverse work situation. Furthermore, it would strengthen our insight and theoretical understanding on the use of positive psychology interventions in adverse work conditions. An interpretative phenomenological analysis was carried out to gain insight into how nurses adapted to the changing work environment during the pandemic. Online semi-structured interviews were done with six experienced female nurses who were all redeployed to the frontline from their own roles. The three themes representing the nurses’ journey were the Protection of Sacrificial Self, The Fortifying Effect of Us, and Critical Turning Points & Growth. Nurses revitalised themselves by creating a sense of ‘us’ to help them face a harsh climate against others, which enabled additional critical turning points. This study further enriches our understanding of personal growth and trauma in adverse work conditions by including an exploration of what sacrificial commitment adds to our understanding of physical and moral courage.

Keywords: COVID-19, nurses, positive psychology, resilience, sacrificial commitment, supports

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Authors: Lista Andriyati, Nurpudji A Taslim

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The human immunodeficiency virus (HIV) patients have potential nutritional and metabolic problems. HIV is a virus that attacks cells T helper and impairs the function of immune cells. Infected individuals gradually become immunodeficient, results in increased susceptibility to a wide range of infections such as tuberculosis (TB). Malnutrition has destructive effects on the immune system and host defense mechanisms. Effective and proper nutritional therapies are important to improve medical outcomes and quality of life, which is associated with functional improvement. A case of 38-years old man admitted to hospital with loss of consciousness and was diagnosed HIV infection and relapse lung TB with severe malnutrition, fever, oral candidiasis, anemia (6.3 g/dL), severe hypoalbuminemia (1.9 g/dL), severe hypokalemia (2.2 mmol/L), immune depletion (1085 /µL) and elevated liver enzyme (ALT 1198/AST 375 U/L). Nutritional intervention by giving 2300 kcal of energy, protein 2 g/IBW/day, carbohydrate 350 g, fat 104 g through enteral and parenteral nutrition. Supplementations administered are zinc, vitamin A, vitamin B1, vitamin B6, vitamin B12, vitamin C, vitamin D, and snakehead fish extract high content of protein albumin (Pujimin®). After 46 days, there are clinical and metabolic improvement in Hb (6.3 to 11.2 g/dL), potassium (2.2 to 3.4 mmol/L), albumin (1.9 to 2.3 g/dL), ALT 1198 to 47/AST 375 to 68 U/L) and improved awareness. In conclusion, nutritional therapy in HIV infection with adequate macronutrients and micronutrients fulfillment and immunonutrition is very important to avoid cachexia and to improve nutritional status and immune disfunction.

Keywords: HIV, hypoalbuminemia, malnutrition, tuberculosis

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Authors: Junbeom Lee, Jaehyuck Cho, Wookyeong Jeong, Jonghan Won, Jungmin Hwang, Youngseok Song, Taikyeong Jeong

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This paper investigates and analyzes meta-learning technologies that use multiple-cameras to monitor and check abnormal behavior in people in real-time in the area of healthcare fields. Advances in artificial intelligence and computer vision technologies have confirmed that cameras can be useful for individual health monitoring and abnormal behavior detection. Through this, it is possible to establish a system that can respond early by automatically detecting abnormal behavior of the elderly, such as patients and the elderly. In this paper, we use a technique called meta-learning to analyze image data collected from cameras and develop a commercial product to determine abnormal behavior. Meta-learning applies machine learning algorithms to help systems learn and adapt quickly to new real data. Through this, the accuracy and reliability of the abnormal behavior discrimination system can be improved. In addition, this study proposes a meta-learning-based abnormal behavior detection system that includes steps such as data collection and preprocessing, feature extraction and selection, and classification model development. Various healthcare scenarios and experiments analyze the performance of the proposed system and demonstrate excellence compared to other existing methods. Through this study, we present the possibility that camera-based meta-learning technology can be useful for monitoring and testing abnormal behavior in the healthcare area.

Keywords: artificial intelligence, abnormal behavior, early detection, health monitoring

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Authors: Cheng-Yu Tsai, Wen-Te Liu, Chen-Chen Lo, Yin-Tzu Lin, Kang Lo

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Background: Driving fatigue related to inadequate or disordered sleep accounts for a major percentage of traffic accidents. Obstructive sleep apnea syndrome (OSAS) is a common respiratory disorder during sleep. However, the effects of OSAS severity on driving drowsiness remain unclear. Objective: The aim of this study is to investigate the relationship between OSAS severity and driving fatigue. Methodologies: The physical condition while driving was obtained from the questionnaires to classify the state of driving fatigue. OSAS severity was quantified as the polysomnography, and the mean hourly number of greater than 3% dips in oxygen saturation during examination in a hospital in New Taipei City (Taiwan). The severity of OSAS was diagnosed by the apnea and hypopnea index (AHI) with the American Academy of Sleep Medicine (AASM) guideline. The logistic regression model was used to examine the associations after adjusted age, gender, neck circumstance, waist circumstance, and body mass index (BMI). Results: There were 880 subjects recruited in this study, who had been done polysomnography for evaluating severity for OSAS as well as completed the driver condition questionnaire. 752 subjects were diagnosed with OSA, and 484 subjects had fatigue driving behavior in the past week. Patients diagnosed with OSAS had a 9.42-fold higher odds ratio (p < 0.01, 95% CI = 5.41 – 16.42) of driving drowsiness for cohorts with a normal degree. Conclusion: We observe the considerable correlation between OSAS and driving fatigue. For the purpose of promoting traffic safety, OSAS should be monitored and treated.

Keywords: obstructive sleep apnea syndrome, driving fatigue, polysomnography, apnea and hypopnea index

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Authors: Thampi Rawther, Jack Cecire, Andrew Sutherland

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Introduction: CT facilitates the diagnosis of potentially life-threatening injuries and facilitates early management. There is evidence that reduced CT acquisition time reduces mortality and length of hospital stay. Currently, there are variable recommendations for ideal timing. Indeed, the NHS standard contract for a major trauma service and STAG both recommend immediate access to CT within a maximum time of 60min and appropriate reporting within 60min of the scan. At Coffs Harbour Health Campus (CHHC), a CT radiographer is on site between 8am-11pm. Aim: To investigate the average time to CT at CHHC and assess for any significant relationship between time to CT and injury severity score (ISS) or time of triage. Method: All major trauma calls between Jan 2021-Oct 2021 were audited (N=87). Patients were excluded if they went from ED to the theatre. Time to CT is defined as the time between triage to the timestamp on the first CT image. Median and interquartile range was used as a measure of central tendency as the data was not normally distributed, and Chi-square test was used to determine association. Results: The median time to CT is 51.5min (IQR 40-74). We found no relationship between time to CT and ISS (P=0.18) and time of triage to time to CT (P=0.35). We compared this to other centres such as John Hunter Hospital and Gold Coast Hospital. We found that the median CT acquisition times were 76min (IQR 52-115) and 43min, respectively. Conclusion: This shows an avenue for improvement given 35% of CT’s were >30min. Furthermore, being proactive and aware of time to CT as an important factor to trauma management can be another avenue for improvement. Based on this, we will re-audit in 12-24months to assess if any improvement has been made.

Keywords: imaging, rural surgery, trauma surgery, improvement

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Authors: Manal Kamel, Sara Maher, Hanan El Baz, Faten Salah, Omar Sayyouh, Zeinab Demerdash

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In the recent COVID 19 pandemic, experts of public health have emphasized testing, tracking infected people, and tracing their contacts as an effective strategy to reduce the spread of the virus. Development of rapid and sensitive diagnostic assays to replace reverse transcription polymerase chain reaction (RT-PCR) is mandatory..Our innovative test strip relying on the application of nanoparticles conjugated to recombinant nanobodies for SARS-COV-2 spike protein (S1) & angiotensin-converting enzyme 2 (that is responsible for the virus entry into host cells) for rapid detection of SARS-COV-2 spike protein (S1) in saliva or sputum specimens. Comparative tests with RT-PCR will be held to estimate the significant effect of using COVID 19 nanobodies for the first time in the development of lateral flow test strip. The SARS-CoV-2 S1 (3 ng of recombinant proteins) was detected by our developed LFIA in saliva specimen of COVID-19 Patients No cross-reaction was detected with Middle East respiratory syndrome coronavirus (MERS-CoV) or SARS- CoV antigens..Our developed system revealed 96 % sensitivity and 100% specificity for saliva samples compared to 89 % and 100% sensitivity and specificity for nasopharyngeal swabs. providing a reliable alternative for the painful and uncomfortable nasopharyngeal swab process and the complexes, time consuming PCR test. An increase in testing compliances to be expected.

Keywords: COVID 19, diagnosis, LFIA, nanobodies, ACE2

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Authors: Baljinder Singh, Navneet Sharma

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Chromium is an essential nutrient involved in normal carbohydrate and lipid metabolism. It influences glucose metabolism by potentiating the action as taking part in insulin signal amplification mechanism. A placebo-controlled single blind, prospective study was carried out to investigate the effect of chromium supplementation on blood glucose, HbA1C and lipid profile in newly onset patients with type-2 diabetes. Total 40 newly onset type-2 diabetics were selected and after one month stabilization further randomly divided into two groups viz. study group and placebo group. The study group received 9 gm brewer’s yeast (42 μ Cr) daily and the other placebo group received yeast devoid of chromium for 3 months. Subjects were instructed not to change their normal eating and living habits. Fasting blood glucose, HbA1C and lipid profile were analyzed at beginning and completion of the study. Results revealed that fasting blood glucose level significantly reduced in the subjects consuming yeast supplemented with chromium (197.65±6.68 to 103.68±6.64 mg/dl; p<0.001). HbA1C values improved significantly from 9.51±0.26% to 6.86±0.28%; p<0.001 indicating better glycaemic control. In experimental group total cholesterol, TG and LDL levels were also significantly reduced from 199.66±3.11 to 189.26±3.01 mg/dl; p<0.02, 144.94±8.31 to 126.01±8.26; p<0.05 and 119.19±1.71 to 99.58±1.10; p<0.001 respectively. These data demonstrate beneficial effect of chromium supplementation on glycaemic control and lipid variables in subjects with newly onset type-2 diabetes.

Keywords: type-2 diabetes, chromium, glucose, HbA1C

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Authors: Natalia Alzate-Carvajal, Diego A. Acevedo-Guzman, Victor Meza-Laguna, Mario H. Farias, Luis A. Perez-Rey, Edgar Abarca-Morales, Victor A. Garcia-Ramirez, Vladimir A. Basiuk, Elena V. Basiuk

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Direct covalent functionalization of prefabricated free-standing graphene oxide paper (GOP) is considered as the only approach suitable for systematic tuning of thermal, mechanical and electronic characteristics of this important class of carbon nanomaterials. At the same time, the traditional liquid-phase functionalization protocols can compromise physical integrity of the paper-like material up to its total disintegration. To avoid such undesirable effects, we explored the possibility of employing an alternative, solvent-free strategy for facile and nondestructive functionalization of GOP with two representative aliphatic amines, 1-octadecylamine (ODA) and 1,12-diaminododecane (DAD), as well as with two aromatic amines, 1-aminopyrene (AP) and 1,5-diaminonaphthalene (DAN). The functionalization was performed under moderate heating at 150-180 °C in vacuum. Under such conditions, it proceeds through both amidation and epoxy ring opening reactions. Comparative characterization of pristine and amine-functionalized GOP mats was carried out by using Fourier-transform infrared, Raman, and X-ray photoelectron spectroscopy (XPS), thermogravimetric (TGA) and differential thermal analysis, scanning electron and atomic force microscopy (SEM and AFM, respectively). Besides that, we compared the stability in water, wettability, electrical conductivity and elastic (Young's) modulus of GOP mats before and after amine functionalization. The highest content of organic species was obtained in the case of GOP-ODA, followed by GOP-DAD, GOP-AP and GOP-DAN samples. The covalent functionalization increased mechanical and thermal stability of GOP, as well as its electrical conductivity. The magnitude of each effect depends on the particular chemical structure of amine employed, which allows for tuning a given GOP property. Morphological characterization by using SEM showed that, compared to pristine graphene oxide paper, amine-modified GOP mats become relatively ordered layered assemblies, in which individual GO sheets are organized in a near-parallel pattern. Financial support from the National Autonomous University of Mexico (grants DGAPA-IN101118 and IN200516) and from the National Council of Science and Technology of Mexico (CONACYT, grant 250655) is greatly appreciated. The authors also thank David A. Domínguez (CNyN of UNAM) for XPS measurements and Dr. Edgar Alvarez-Zauco (Faculty of Science of UNAM) for the opportunity to use TGA equipment.

Keywords: amines, covalent functionalization, gas-phase, graphene oxide paper

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Authors: Do Thi Ha, Khanitta Nuntaboot

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Background: Competency of nurses is vital to safe nursing practice as well as essential component to drive quality of nursing services. There exists little up to date information concerning actual competency among Vietnamese nurses. Purposes: The purpose of this study is to identify the actual nursing competency among nurses in clinical settings in Vietnam. Methods: A qualitative study, ethnographic method, comprised of the participant-observation, in-depth interview, and focus group discussion with multidisciplinary groups of nurses employing in Cho Ray hospital, Vietnam, managers/administrators, nurse teachers, medical doctors, other health care providers, patients and family members which derived from purposeful sampling technique. Content analysis was used for data analysis. Results: Five essential themes of nursing competencies among nurses were identified include (1) knowledge, (2) skills, (3) attitude and value-based nursing practice, (4) legal and ethical competencies, and (5) transcultural competencies. Basic and advanced knowledge were identified as further two dimensions of knowledge. There were five sub themes identified as further dimensions of skills include technical skills, communication skills, organizing and management skills, teamwork and interrelationship, and critical thinking skills. Conclusions: The findings from this study provide valuable information and understanding of the actual competency among nurses in clinical settings in Vietnam. It is expected that this understanding would assist in developing a guide to nursing education and training, nursing practice and relevant policy regulation used for promoting nursing competency among nurses.

Keywords: ethnographic method, nursing competency, qualitative design, Vietnam

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Authors: S. Aberkane, N. Djabali, S. Fafi, A. Baghezza

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Chronic illnesses affect many Algerians. It is possible to investigate the impact of illness representations and coping on quality of life and whether illness representations are indirectly associated with quality of life through their influence on coping. This study aims at investigating the relationship between illness perception, coping strategies and quality of life with chronic illness. Illness perceptions are indirectly associated with the quality of life through their influence on coping mediation. A sample of 316 participants with chronic illness living in the region of Batna, Algeria, has been adopted in this study. A correlation statistical analysis is used to determine the relationship between illness perception, coping strategies, and quality of life. Multiple regression analysis was employed to highlight the predictive ability of the dimensions of illness perception and coping strategies on the dependent variables of quality of life, where mediation analysis is considered in the exploration of the indirect effect significance of the mediator. This study provides insights about the relationship between illness perception, coping strategies and quality of life in the considered sample (r = 0.39, p < 0.01). Therefore, it proves that there is an effect of illness identity perception, external and medical attributions related to emotional role, physical functioning, and mental health perceived, and these were fully mediated by the asking for assistance (c’= 0.04, p < 0.05), the guarding (c’= 0.00, p < 0.05), and the task persistence strategy (c’= 0.05, p < 0.05). The findings imply partial support for the common-sense model of illness representations in a chronic illness population. Directions for future research are highlighted, as well as implications for psychotherapeutic interventions which target unhelpful beliefs and maladaptive coping strategies (e.g., cognitive behavioral therapy).

Keywords: chronic illness, coping, illness perception, quality of life, self- regulation model

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Authors: Veronique Jubera, Ka-Young Kim, U-Chan Chung, Amelie Veillere, Jean-Marc Heintz

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Emitting materials and all solid state lasers are widely used in the field of optical applications and materials science as a source of excitement, instrumental measurements, medical applications, metal shaping etc. Recently promising optical efficiencies were recorded on ceramics which result from a cheaper and faster ways to obtain crystallized materials. The choice and optimization of the sintering process is the key point to fabricate transparent ceramics. It includes a high control on the preparation of the powder with the choice of an adequate synthesis, a pre-heat-treatment, the reproducibility of the sintering cycle, the polishing and post-annealing of the ceramic. The densification is the main factor needed to reach a satisfying transparency, and many technologies are now available. The symmetry of the unit cell plays a crucial role in the diffusion rate of the material. Therefore, the cubic symmetry compounds having an isotropic refractive index is preferred. The cubic Y3NbO7 matrix is an interesting host which can accept a high concentration of rare earth doping element and it has been demonstrated that SPS is an efficient way to sinter this material. The optimization of diffusion losses requires a microstructure of fine ceramics, generally less than one hundred nanometers. In this case, grain growth is not an obstacle to transparency. The ceramics properties are then isotropic thereby to free-shaping step by orienting the ceramics as this is the case for the compounds of lower symmetry. After optimization of the synthesis route, several SPS parameters as heating rate, holding, dwell time and pressure were adjusted in order to increase the densification of the Eu3+ doped Y3NbO7 pellets. The luminescence data coupled with X-Ray diffraction analysis and electronic diffraction microscopy highlight the existence of several distorted environments of the doping element in the studied defective fluorite-type host lattice. Indeed, the fast and high crystallization rate obtained to put in evidence a lack of miscibility in the phase diagram, being the final composition of the pellet driven by the ratio between niobium and yttrium elements. By following the luminescence properties, we demonstrate a direct impact on the SPS process on this material.

Keywords: emission, niobate of rare earth, Spark plasma sintering, lack of miscibility

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Authors: Veronika Zivicova, Petr Broz, Zdenek Fik, Alzbeta Mifkova, Jan Plzak, Zdenek Cada, Herbert Kaltner, Jana Fialova Kucerova, Hans-Joachim Gabius, Karel Smetana Jr.

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The possibility to determine genome-wide expression profiles of cells and tissues opens a new level of analysis in the quest to define dysregulation in malignancy and thus identify new tumor markers. Toward this long-term aim, we here address two issues on this level for head and neck cancer specimen: i) defining profiles in different regions, i.e. the tumor, the transition zone and normal control and ii) comparing complete data sets for seven individual patients. Special focus in the flanking immunohistochemical part is given to adhesion/growth-regulatory galectins that upregulate chemo- and cytokine expression in an NF-κB-dependent manner, to these regulators and to markers of differentiation, i.e. keratins. The detailed listing of up- and down-regulations, also available in printed form (1), not only served to unveil new candidates for testing as marker but also let the impact of the tumor in the transition zone become apparent. The extent of interindividual variation raises a strong cautionary note on assuming uniformity of regulatory events, to be noted when considering therapeutic implications. Thus, a combination of test targets (and a network analysis for galectins and their downstream effectors) is (are) advised prior to reaching conclusions on further perspectives.

Keywords: galectins, genome scale sequencing, squamous cell carcinoma, transition zone

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Authors: Iman M. Mansour, Rania A. Zayed, Fadwa S. Abdel-Azim, Lamyaa H. Abdel-Latif

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Background and Objectives: The microenvironment of acute myeloid leukemia (AML) is suppressive for immune cells. Regulatory T cells (Tregs) have been recognized to play a role in helping leukemic cells to evade immunesurveillance. The mesenchymal stem cells (MSCs) are essential contributors in immunomodulation of the microenvironment as they can promote differentiation of Tregs via the indoleamine 2,3-dioxygenase (IDO) pathway. The aim of the present work was to evaluate the expression of IDO in bone marrow derived MSCs and to study its correlation to percentage of Tregs. Methods: 37 adult bone marrow samples were cultured in appropriate culture medium to isolate MSCs. Successful harvest of MSCs was determined by plastic adherence, morphology and positive expression of CD271 and CD105; negative expression of CD34 and CD45 using flowcytometry. MSCs were examined for IDO expression by immunocytochemistry using anti-IDO monoclonal antibody. CD4+ CD25+ cells (Tregs) were measured in bone marrow samples by flowcytometry. Results: MSCs were successfully isolated from 20 of the 37 bone marrow samples cultured. MSCs showed higher expression of IDO and Tregs percentage was higher in AML patients compared to control subjects (p=0.002 and p<0.001 respectively). A positive correlation was found between IDO expression and Tregs percentage (p value=0.012, r=0.5). Conclusion: In this study, we revealed an association between high IDO expression in MSCs and elevated levels of Tregs which has an important role in the pathogenesis of AML, providing immunosuppressive microenvironment.

Keywords: acute myeloid leukemia, indoleamine 2, 3-dioxygenase, mesenchymal stem cells, T regulatory cells

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Authors: Ashit Syngle, Nidhi Garg, Pawan Krishan

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Objective: Bone marrow derived stem cells, endothelial progenitor cells (EPCs), protect against atherosclerotic vascular damage. However, EPCs are depleted in AS and contribute to the enhanced cardiovascular risk. Statins have a protective effect in CAD and diabetes by enhancing the proliferation, migration and survival of EPCs. Therapeutic potential of augmenting EPCs to treat the heightened cardiovascular risk of AS has not yet been exploited. We aimed to investigate the effect of rosuvastatin on EPCs population and inflammation in AS. Methods: 30 AS patients were randomized to receive 6 months of treatment with rosuvastatin (10 mg/day, n=15) and placebo (n=15) as an adjunct to existing stable anti-rheumatic drugs. EPCs (CD34+/CD133+) were quantified by Flow Cytometry. Inflammatory measures (BASDAI, BASFI, CRP and ESR), pro-inflammatory cytokines (TNF-α, IL-6 and IL-1) and lipids were measured at baseline and after treatment. Results: At baseline, inflammatory measures and pro-inflammatory cytokines were elevated and EPCs depleted among both groups. EPCs increased significantly (p < 0.01) after treatment with rosuvastatin. At 6 months, BASDAI, BASFI, ESR, CRP, TNF-α, and IL-6 improved significantly in rosuvastatin group. Significant negative correlation was observed between EPCs and BASDAI, CRP and IL-6 after rosuvastatin treatment. Conclusion: First study to show that rosuvastatin augments EPCs population in AS. This defines a novel mechanism of rosuvastatin treatment in AS: the augmentation of EPCs with improvement in proinflammatory cytokines and inflammatory disease activity. The augmentation of EPCs by rosuvastatin may provide a novel strategy to prevent cardiovascular events in AS.

Keywords: ankylosing spondylitis, Endothelial Progenitor Cells, inflammation, pro-inflammatory cytokines, rosuvastatin

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Authors: Corbel Camille, Le Cerf Flora, Corveleyn Xavier

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Introduction: Aging is a physiological phenomenon accompanied by anatomical and cognitive changes leading to anxiety and pain. This could have significant impacts on quality of life, life expectancy, and the progression of cognitive disorders. Virtual Reality Intervention (VRI) is increasingly recognized as a non-pharmacological approach to alleviate pain and anxiety in children and young adults. However, while recent studies have explored the feasibility of applying VRI in the older population, confirmation through studies is still required to establish its benefits in various contexts. Objective: This pilot study, following a clinical trial methodology international recommendation for VRI in healthcare, aims to evaluate the feasibility and effects of using VRI with a 101-year-old woman residing in a nursing home undergoing weekly painful and anxious wound dressing changes. Methods: Following the international recommendations, this study focused on feasibility and preliminary results. A Single Case Experimental Design protocol consists of two distinct phases: control (Phase A) and personalized VRI (Phase B), each lasting for 6 sessions. Data were collected before, during and after the care, using measures of pain (Algoplus and numerical scale), anxiety (Hospital anxiety scale and numerical scale), VRI experience (semi-structured interview) and physiological measures. Results: The results suggest that the utilization of VRI is both feasible and well-tolerated by the participant. VRI contributed to a decrease in pain and anxiety during care sessions, with a more significant impact on pain compared to anxiety, which showed a gradual and slight decrease. Physiological data, particularly those related to stress, also indicate a reduction in physiological activity during VRI. Conclusion: This pilot study confirms the feasibility and benefits of using virtual reality in managing pain and anxiety in an older adult in a nursing home. In light of these results, it is essential that future studies focus on setting up randomized controlled trials (RCTs). These studies should involve a representative number of older adults to ensure generalizable data. This rigorous, controlled methodology will enable us to assess the effectiveness of virtual reality more accurately in various care settings, measure its impact on clinical parameters such as pain and anxiety, and explore the long-term implications of this intervention.

Keywords: anxiety reduction, nursing home, older adult, pain management, virtual reality

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Authors: Maariyah Irfan

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Intro: Current cardiovascular (CV) care faces challenges such as low budgets and high hospital admission rates. This review aims to evaluate Big Data in CV healthcare management through the use of wearable devices in atrial fibrillation (AF) detection. AF may present intermittently, thus it is difficult for a healthcare professional to capture and diagnose a symptomatic rhythm. Methods: The iRhythm ZioPatch, AliveCor portable electrocardiogram (ECG), and Apple Watch were chosen for review due to their involvement in controlled clinical trials, and their integration with smartphones. The cost-effectiveness and AF detection of these devices were compared against the 12-lead ambulatory ECG (Holter monitor) that the NHS currently employs for the detection of AF. Results: The Zio patch was found to detect more arrhythmic events than the Holter monitor over a 2-week period. When patients presented to the emergency department with palpitations, AliveCor portable ECGs detected 6-fold more symptomatic events compared to the standard care group over 3-months. Based off preliminary results from the Apple Heart Study, only 0.5% of participants received irregular pulse notifications from the Apple Watch. Discussion: The Zio Patch and AliveCor devices have promising potential to be implemented into the standard duty of care offered by the NHS as they compare well to current routine measures. Nonetheless, companies must address the discrepancy between their target population and current consumers as those that could benefit the most from the innovation may be left out due to cost and access.

Keywords: atrial fibrillation, big data, cardiovascular healthcare management, wearable devices

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Authors: V. V. Lakshmi, Y. V. S. Annapurna

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Urinary tract infection (UTI) is one of the most common infectious diseases seen in the community. Susceptible individuals experience multiple episodes, and progress to acute pyelonephritis or uro-sepsis or develop asymptomatic bacteriuria (ABU). Ability to cause extraintestinal infections depends on several virulence factors required for survival at extraintestinal sites. Presence of virulence phenotypes enhances the pathogenicity of these otherwise commensal organisms and thus augments its ability to cause extraintestinal infections, the most frequent in urinary tract infections(UTI). The present study focuses on detection of the virulence characters exhibited by the uropathogenic organism and most common factors exhibited in the local pathogens. A total of 700 isolates of E.coli and Klebsiella spp were included in the study.These were isolated from patients from local hospitals reported to be suffering with UTI over a period of three years. Isolation and identification was done based on Gram character and IMVIC reactions. Antibiotic sensitivity profile was carried out by disc diffusion method and multi drug resistant strains with MAR index of 0.7 were further selected. Virulence features examined included their ability to produce exopolysaccharides, protease- gelatinase production, hemolysin production, haemagglutination and hydrophobicity test. Exopolysaccharide production was most predominant virulence feature among the isolates when checked by congo red method. The biofilms production examined by microtitre plates using ELISA reader confirmed that this is the major factor contributing to virulencity of the pathogens followed by hemolysin production.

Keywords: Escherichia coli, Klebsiella spp, Uropathogens, virulence features

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Authors: Kieren Luellman, Makenzi Rockwell, Eduardo Callegari, Nichole Haag, Chun Wu

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Multiple sclerosis (MS) is an autoimmune disorder that damages the myelin sheath of neurons in the central nervous system. The presence of Acinetobacter bacteria and anti-Acinetobacter antibodies in MS patients has led to the hypothesis that the bacteria may contribute to MS pathogenesis. In this study, the protein sequences of Acinetobacter baumannii were compared to five peptides from three mammalian myelin proteins, i.e., Proteolipid Protein (PLP): PLP 139-151, PLP 178-191, Myelin Basic Protein (MBP): MBP 84-104 and Myelin Oligodendrocyte Glycoprotein (MOG): MOG 35-55 and MOG 92-106 respectively, known to induce experimental autoimmune encephalomyelitis (EAE), a condition similar to MS. We found 11 hits (i.e., with five or more amino acid sequence similarity) in Acinetobacter baumannii, which are identical or similar to PLP139-151, 32 hits to PLP178-191, 35 to MBP 84-104, 41 hits to MOG 35-55 and 26 hits to MOG92-106. In addition, Western blotting was used to assess possible interaction between the bacterial proteins and human anti-MBP, anti-MOG, and anti-PLP antibodies produced in rabbits, corresponding to MBP 84-104, MOG 35-55, and PLP 139-151, respectively. We found that both human Polyclonal anti-MOG antibody and anti-PLP antibody recognized a protein or more proteins of the same molecular mass of around 25 kDa. in Acinetobacter baumannii. The results suggested that this/these protein(s) might potentially serve as antigen(s) to induce anti-MOG antibody and anti-PLP antibody production in mammalian B cells. The proteomic study identified 433 hits, among which the sequence of Acinetobacter baumannii protein 491 subunit A matches a previously published enzyme Acinetobacter 3-Oxoadipate CoA-Transferase, in which a fragment of its peptide was observed to recognize MS patient serum via ELISA method. Our findings might pave the road to understanding one of the pathogenesis mechanisms of MS.

Keywords: multiple sclerosis, pathogenesis, Acinetobacter baumannii, antibody recognition

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Authors: Maria Ulfa, Nur Awaliyah Putri

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Madurese is known as Malayo-Sumbawan Austronesian language which is used by Madurese people in Madura Island, Indonesia. However, there was a massive migration of Madurese people due to Dutch colonization. The Madurese people were brought by force for cultivation system to the eastern salient north coast or called as Tapal Kuda that spread in region covers the regencies of Probolinggo, Lumajang, Jember, Situbondo, Bondowoso, and Banyuwangi, the eastern part of the Pasuruan Regency, as well as the city of Probolinggo. The city of Probolinggo has unique characteristic regarding the ethnic and language variation. Several ethnics can be found in this city, such as Madurese, Javanese, Tengger, Arabic, Mandhalungan, Osing, and Chinese. Hence, the hybrid culture happens in Probolinggo, they called the culture as Pendhalungan which is the combination of culture among Madurese and Javanese. Among those ethnics, Madurese is the strongest ethnic that still maintains their identity, such as their ethnic language. The massive growth of Madurese in Probolinggo city, East Java is interesting to be analyzed. The object of this study is to discover language ideology and literacy of Madurese to maintain their ethnic language in Probolinggo city, East Java. The researchers used the theory of language maintenance practice based on three types of practices social language, social literacy, and peripheral ritualized practices. The approach of this study was qualitative research with ethnography method. In order to collect the data, researchers used observation and interview techniques. The amount of informants were 20 families which consist of mother, father and children in 5 sub-districts in Probolinggo city and they were interviewed regarding language ideology and literacy of Madurese. In supporting the data, researchers employed the Madurese speakers outside family scope like in school, office, and market. The result of the study revealed that Madurese has been preserved heritably to young generations by ethnics of Madura in Probolinggo city. Primarily the language is being taught in the earlier age of their children as L1 and used as ethnic identity. The parents teach them with simple sentences that grammatically correct. This language literacy is applied to maintain ethnic language as their ethnicity marker since they inhabit in Javanese ethnic area. In fact, it is not the only ideology of Madurese ethnic but also the influence of economic situation like in trading communication. The usage of Madurese in the trading scope is very beneficial since people can bargain the goods cheaper and easier because most of the traders are from Madurese ethnic. In this situation, linguistic phenomena such as code mixing and code switching between Madurese and Javanese are emerged as the trading communication. From the result, it can be concluded that solidarity exists among Madurese people in many scopes.

Keywords: language literacy, language maintenance, Madurese, Probolinggo City

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Authors: Obaidul Fattah Tanvir, Zinat Ara Afroze

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Community living adjacent to forests and Protected Areas, especially in South Asian countries, have a common practice in extracting resources for their living and livelihoods. This extraction of resources, because the way it is done, destroys the biophysical features of the area. Deforestation, wildlife poaching, illegal logging, unauthorized hill cutting etc. are some of the serious issues of concern for the sustainability of the natural resources that has a direct impact on environment and climate as a whole. To ensure community involvement in conservation initiatives of the state, community based forest management, commonly known as Comanagement, has been in practice in 6 South Asian countries. These are -India, Nepal, Sri Lanka, Pakistan, Bhutan and Bangladesh. Involving community in forestry management was initiated first in Bangladesh in 1979 and reached as an effective co-management approach through a several paradigm shifts. This idea of Comanagement has been institutionalized through a Government Order (GO) by the Ministry of Environment and Forests, Government of Bangladesh on November 23, 2009. This GO clearly defines the structure and functions of Co-management and its different bodies. Bangladesh Forest Department has been working in association with community to conserve and manage the Forests and Protected areas of Bangladesh following this legal document. Demographically young people constitute the largest segment of population in Bangladesh. This group, if properly sensitized, can produce valuable impacts on the conservation initiatives, both by community and government. This study traced the major factors that motivate community youths to work effectively with different tiers of comanagement organizations in conservation of forests and Protected Areas of Bangladesh. For the purpose of this study, 3 FGDs were conducted with 30 youths from the community living around the Protected Areas of Cox’s bazar, South East corner of Bangladesh, who are actively involved in Co-management organizations. KII were conducted with 5 key officials of Forest Department stationed at Cox’s Bazar. 2 FGDs were conducted with the representatives of 7 Co-management organizations working in Cox’s Bazar region and approaches of different community outreach activities conducted for forest conservation by 3 private organizations and Projects have been reviewed. Also secondary literatures were reviewed for the history and evolution of Co-management in Bangladesh and six South Asian countries. This study found that innovative community outreach activities that are financed by public and private sectors involving youths and community as a whole have played a pivotal role in conservation of forests and Protected Areas of the region. This approach can be replicated in other regions of Bangladesh as well as other countries of South Asia where Co-Management exists in practice.

Keywords: community, co-management, conservation, forests, protected areas, youth

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Authors: Cecilia Estela Jiménez Pérez Campos

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Introduction: Amputation comes from a series of complications in diabetic persons; at that point, of the illness evolution they have a deplored aerobic capacity. Adding to that, cardiac rehabs programs are almost base in several activities in a standing position. The cardiac rehabilitation programs have to improve for them, based on scientific advice. Objective: Evaluation of aerobic capacity of diabetic amputee after an aerobic exercise program, with upper limb ergometer. Methodology: The design is longitudinal, prospective, comparative and no randomized. We include all diabetic pelvic limb amputees, who assist to the cardiac rehabilitation. We made 2 groups: an experimental and a control group. The patients did the exercise testing, with the author’s design protocol. The experimental group completed 24 exercise sessions (3 sessions/week), with an intensity determined with the training heart rate. At the end of 8 weeks period, the subjects did a second exercise test. Results: Both groups were a homogeneous sample in age (experimental n=15) 57.6+12.5 years old and (control n=8) 52.5+8.0 years old, sex, occupation, education and economic features. (square chi) (p=0.28). The initial aerobic capacity was similar in both groups. And the aerobic capacity accomplishes after the program was statistically greater in the experimental group than in the control one. The final media VO2peak (mlO2/kg/min) was experimental (17.1+3.8), control (10.5+3.8), p=0.001. (t student). Conclusions: The aerobic capacity improved after an arm ergometer exercise program and the quality of life improve too, in diabetic amputees. So this program is fundamental in diabetic amputee’s rehabilitation management.

Keywords: aerobic fitness, metabolic equivalent (MET), oxygen output, upper limb ergometer

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Authors: Wissem Abdaoui, Nizar M. Mhaidat, Ilhem Mokhtari, Adel Gouri

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Colorectal cancer (CRC) is one of the most common tumors all over the world. Obesity, considered a risk factor of CRC, is characterized by a high level of secreted cytokines from adipose tissue. Among these inflammatory molecules, leptin is considered the key mediator for CRC cancer development and progression by activation of mitogenic and anti apoptotic signaling pathways. Gene expression can be significantly modulated by alterations in DNA methylation patterns. The aim of this study is to investigate the impact of leptin gene methylation on CRC prognosis and sensitivity to chemotherapy. The study involved 70 CRC tissue samples collected from King Abdullah University Hospital (KAUH) from which only 53 was analyzed because of bisulfate fragmentation and low yield of DNA extracted from FFPE tissues. A total of 22 blood samples were collected from healthy volunteers and enrolled as a control group. Leptin promoter methylation was analyzed by methylation specific PCR after bisulfate conversion. Results revealed that the incidence of leptin gene methylation was significantly higher in CRC patients in comparison to that of controls (P < 0.05). The correlation between patient’s demographics and leptin gene methylation was not significant (P < 0.05). However, a significant correlation between leptin gene methylation status and early cancer stages (I, II and III) was found in male but not in female (p < 0.05). Moreover, a significant correlation was found between leptin promoter methylation and early tumor localization T1-2 (p < 0.05). The correlation between epigenetic regulation of leptin and chemosensitivity was not significant. Taken together, these results suggest the possibility to use leptin gene methylation as a biomarker for the evaluation of CRC prognosis and metastasis.

Keywords: colorectal cancer, obesity, leptin, DNA methylation, disease prognosis, bisulfate conversion, chemoresistance

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Authors: Magdalena Hasplova, Katerina Ivanova

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Perinatal palliative care is a relatively young and developing field that includes the care of a fetus or newborn with a life-threatening or limiting defect and his family. However, the training of midwives in perinatal palliative care is insufficient and midwives do not feel prepared for this aspect of their work. This fact can affect the barriers to communication with the mother or family of the endangered child. The main aim was to analyze the awareness of midwifery students on the issue of perinatal palliative care in the Czech Republic. Based on the analysis, draw attention to possible communication barriers that may be caused by insufficient information. The research was carried out using a qualitative method, the method of data collection was a semi-structured interview. Eleven female students took part in the research, and the respondents were selected using the Snowballing method. Some methods of grounded theory (open coding and category creation) were used to analyze the data. Based on the results of the research, questions were set in a questionnaire focused on communication barriers between mothers (family) and health care professionals in the care of newborns with life-threatening or limiting disabilities. Based on the analysis of data, categories 1 were determined. Knowledge of perinatal palliative care 2. Education 3. Practical experience 4. Readiness and concerns in the provision of perinatal palliative care 6. Supervision. The questions in the questionnaire were then derived taking into account the data obtained, and the operationalization of health literacy in the field of perinatal palliative care was performed. The analysis of the interviews revealed that the education of midwives in the Czech Republic in the issue of perinatal palliative care is not uniform. The research confirmed the insufficient knowledge and skills of midwifery students preparing to provide perinatal palliative care. Respondents reported feelings of unpreparedness in the areas of communication with a woman after perinatal loss, psychological support for a woman and her family, the care of a stillborn or dying child, or self-coping with death. The questions in the questionnaire then develop these areas. We assumed that by analyzing and interpreting the data obtained from our research, we will help to better understand the concerns and motivations of students in providing holistic perinatal palliative care. We came to the conclusion that it would be appropriate to set up a unified and comprehensive education on this issue in the Czech Republic. Healthcare professionals are in a unique position that can positively or negatively affect the intensity of perinatal loss. Already properly set up education of health professionals leads to overcoming barriers in communication between health professionals and the family, experiencing perinatal loss.

Keywords: midwife, perinatal loss, perinatal palliative care, communication, barriers, mothers, family

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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

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Authors: Emma Carr, Bilal Aslam-Pervez, David Laraway

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Litigation against surgeons and hospitals continues to increase in Western countries. While verbal consent is all that is required legally, it has for a long time been considered that written consent offers proof of discussion and interaction between the surgeon and the patient. Inadequate consenting of patients continues in the United Kingdom leaving surgeons and Health Trusts open to litigation. We present a standardised consent form which improves patient autonomy and engagement. The General Medical Council recommends that all material risks relevant to the patient are discussed and recorded prior to undergoing surgery, regardless of how likely they are to occur. Current literature was reviewed to evaluate complications associated with surgical management of mandible fractures. Analysis of risks on 52 consent forms were analysed within the Glasgow OMFS department, leading to a procedure-specific form being designed and implemented. This audit showed that the documentation of risks on consent forms was extremely variable- with uncommon risks not being recorded. Interestingly, not a single consent form was found which highlighted all the risks associated with mandible fractures. Our re-audit data confirms 100% of risks being discussed when a procedure specific form is utilised. Our hope, is to introduce further forms for inclusion on the BAOMS website and peripheral distribution. The forms are quick and easy to print and leave more time for consultation with the patient. Whilst we are under no illusion that the forms may not decrease the incidence of intended litigation, we feel confident that they will decrease the chances of it being successful.

Keywords: consent, litigation, mandible fracture, surgery

Procedia PDF Downloads 188

Authors: Ha T. T. Ly, Truc B. Truc, Hai N. Truong, Mai P. T. Nguyen, Ngoc D. Ngo, Khanh V. Tran, Hai T. Le

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Beta thalassemia is one of the most common inherited blood disorders, which is characterized by decreased or absent in beta globin expression. Patients with Beta thalassemia whose anemia is not so severe as to necessitate transfusions are said to have thalassemia intermedia. Objective: The goal of this study is prenatal diagnosis for pregnancy woman with Beta thalassemia intermedia and her husband with Beta thalassemia carrier at high risk of Beta thalassemia major in Northern of Vietnam. Material and method: The family has a 6 years-old compound heterozygous thalassemia major for CD71/72(+A) and Hbb:c. -78A>G/nt-28(A>G) male child. The father was heterozygous for CD71/72(+A) mutation which is Beta plus type and the mother was compound heterozygosity of two different variants, namely, Hbb: c. -78A>G/nt-28(A>G) and CD26(A-G) HbE. Prenatal Beta thalassemia mutation detection in fetal DNA was carried out using multiplex Amplification-refractory mutation system ARMS-PCR and confirmed by direct Sanger-sequencing Hbb gene. Prenatal diagnoses were perfomed by amniotic fluid sampling from pregnant woman in the 16-18th week of pregnancy after the genotypes of parents of the probands were identified. Result: When amniotic fluid sample was analyzed for Beta globin gene (Hbb), we found that the genotype is heterozygous for CD71/72(+A) and CD26(A-G) HbE. This genotype is different from the 1st child of this family. Conclusion: Prenatal diagnosis helps the parents to know the genotype and the thalassemia status of the fetus, so they can have early decision on their pregnancy. Genetic diagnosis provided a useful method in diagnosis for familial members in pedigree, genetic counseling and prenatal diagnosis.

Keywords: beta thalassemia intermedia, Hbb gene, pedigree, prenatal diagnosis

Procedia PDF Downloads 383