Search results for: respiratory diseases

Authors: Sadaf Ambreen, Ayesha Bibi, Sara Rafiq

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Hypertension is a medical condition in which blood pressure in the arteries is elevated than the normal, having systolic blood pressure more than 120mmHg and diastolic blood pressure more than 80 mmHg. It leads to health complications and increase the risk of diseases such as stroke, heart failure, heart attack, and even death. The aim of the current study was to evaluate nutritional status and activity level among hypertensive early adults in District Mardan Data was collected from the subjects of Public Hospital, Mardan Medical Complex, through questionnaire. A complete information about individual sociodemographic, anthropometry and health status were collected, and physical activity was assessed by using IPAQ questionnaire. A total of 150 individuals were included in the study, in which 90% were females, and 10% were males. Data was analyzed through SPSS Version 22. Majority of the study subjects, 88%, were married, 70% having nuclear living system, 43% were having elementary education, and 43% were working as laborer. Body mass index and waist circumference in female counterpart were found to be positively associated with hypertension and was found statistically significant P=<0.01. Results showed that majority of females were fall in hypertension crisis category with mild activity, and males were having hypertension stage 1 with moderate activity. Our study concluded that non-optimal nutritional status and physical inactivity resulted in elevated blood pressure in females, therefore, lifestyle change such as optimal nutritional status and physical activity may play key role in reducing risk of hypertension.

Keywords: obesity/overwight, body mass index, waist circumference, early adulthood

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Authors: Mehwish Azam, Muhammad Imran, Humaira Jabeen, Sumreen Begum, Rashida Qasim

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Background: Metabolic syndrome is a cluster of metabolic risk factors including obesity, glucose intolerance, insulin resistance, dyslipidemia and hypertension. Metabolic syndrome in obese and type 2 diabetic subjects increases the risk of cardiovascular diseases (CVD). Globally, the prevalence of metabolic syndrome ranges from 10%-50% and in Pakistan ranges from 18%-46%. The objective of the present study is to estimate the prevalence of metabolic syndrome (MS) in obese type 2 diabetic subjects by using International Diabetes Federation (IDF) and National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) definitions. Methods: Obese type 2 diabetic subjects and normal healthy subjects of both genders were selected from diabetic clinics and hospitals of various localities of Karachi, Pakistan. The frequency of metabolic syndrome was estimated by the proposed definitions of IDF and NCEP-ATP III. Results: The prevalence of metabolic syndrome using International Diabetes Federation (IDF) definition in obese type 2 diabetic subjects was 85.7%. It is significantly higher (p<0.05) in females (47.1%) as compared to males (38.6%). While, using National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) definition the overall prevalence of metabolic syndrome in obese type 2 diabetic subjects was 75.7%, the prevalence is significantly higher (p<0.05) in females (45.7%) than males (30.0%). Conclusion: It is concluded that, the overall prevalence of metabolic syndrome is increasing significantly in obese type 2 diabetic subjects by using IDF and NCEP–ATP III definitions. Therefore, it is need to initiate the preventive measures by arranging public awareness programmes to highlight the significance of a healthy lifestyle and emphasis should be given to reduce weight, increase physical activity, and increase intake of healthy low-glycemic-index foods.

Keywords: metabolic syndrome, diabetes mellitus, obesity, IDF, NCEP-ATP III

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Authors: D. Bhowmik, Y. Tian, Q. Yin, F. Zhu

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Cyclic GMP-AMP synthase (cGAS), recognises cytoplasmic double-stranded DNA (dsDNA), indicative of bacterial and viral infections, as well as the leakage of self DNA by cellular dysfunction and stresses, to elicit the host's immune responses. Viruses also have developed numerous strategies to antagonize the cGAS-STING pathway. Kaposi's sarcoma-associated herpesvirus (KSHV) is a human DNA tumor virus that is the causative agent of Kaposi’s sarcoma and several other malignancies. To persist in the host, consequently causing diseases, KSHV must overcome the host innate immune responses, including the cGAS-STING DNA sensing pathway. We already found that ORF52 or KicGAS (KSHV inhibitor of cGAS), an abundant and basic gamma herpesvirus-conserved tegument protein, directly inhibits cGAS enzymatic activity. To better understand the mechanism, we have performed the biochemical and structural characterization of full-length KicGAS and various mutants in regarding binding to DNA. We observed that KicGAS is capable of self-association and identified the critical residues involved in the oligomerization process. We also characterized the DNA-binding of KicGAS and found that KicGAS cooperatively oligomerizes along the length of the double stranded DNA, the highly conserved basic residues at the c-terminal disordered region are crucial for DNA recognition. Deficiency in oligomerization also affects DNA binding. Thus DNA binding by KicGAS sequesters DNA and prevents it from being detected by cGAS, consequently inhibiting cGAS activation. KicGAS homologues also inhibit cGAS efficiently, suggesting inhibition of cGAS is evolutionarily conserved mechanism among gamma herpesvirus. These results highlight the important viral strategy to evade this innate immune sensor.

Keywords: Kaposi's sarcoma-associated herpesvirus, KSHV, cGAS, DNA binding, inhibition

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Authors: Caroline F. Moeser

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The skin-gut axis defines the relationship between the intestinal microbiota and the development of pathological skin diseases. Low diversity within the gut can predispose to the development of allergic skin conditions, and a greater diversity of the gastrointestinal microflora has been associated with a reduction of skin flares in people with atopic dermatitis. Manipulation of the gut microflora has been used as a treatment option for several conditions in people, but there is limited data available on the use of faecal transplantation as a preventative measure in either people or dogs. Six, 4-month-old pups from a litter of ten were presented for diarrhea and/or signs of skin disease (chronic scratching, otitis externa). Of these pups, two were given probiotics with a resultant resolution of diarrhea. The other four pups were given faecal transplantation, either as a sole treatment or in combination with other treatments. Follow-up on the litter of ten pups was performed at 18 months of age. At this stage, the four pups that had received faecal transplantation had resolved all clinical signs and had no recurrence of either skin or gastrointestinal symptoms. Of the remaining six pups from the litter, all had developed at least one episode of Malassezia otitis externa within the period of 5 months to 18 months of age. Two pups had developed two Malassezia otitis infections, and one had developed three Malassezia otitis infections during this period. Favrot’s criteria for the diagnosis of canine atopic dermatitis include chronic or recurrent Malassezia infections by the age of three years. Early results from this litter predict a reduction in the development of canine atopic disease in dogs given faecal microbial transplantation. Follow-up studies at three years of age and within a larger population of dogs can enhance understanding of the impact of early faecal transplantation in the prevention of canine atopic dermatitis.

Keywords: canine atopic dermatitis, faecal microbial transplant, skin-gut axis, otitis

Procedia PDF Downloads 159

Authors: K. M. Pratap Shankar, Dattatreya Rao, Sai Prasad

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Background: Skin diseases are among the most common health problems worldwide and are associated with a considerable burden. Eczema is such a skin ailment which cause psychological, social and financial burden on the patient and their families. Management of eczema with antibiotics, antihistamines, steroids etc., are available but even after their use relapses, recurrences and other complications are very common. Aim: The aim of this study was to assess the efficacy of leech application in the management of vicarcikā (Eczema) with Histopathological study. Methods: For the present study 10 patients having the classical symptoms of Vicarcikā, were randomly selected as per the inclusion and exclusion criteria from O.P.D. & I.P.D. sections of Śalya department, S.V. Āyurvedic Hospital, Tirupati. Minimum 4 sittings of Leech application was carried out with seven days interval. Total duration of treatment was 6 weeks. Biopsy samples were collected from the lesion site before and after treatment. Histopathological examination was done by the pathologist. Results: In eczema (dermatitis) the leech application therapy gives excellent response by reducing the inflammatory component, hyperkeratosis, spongiosis, irregular acanthosis and by evoking a granulation tissue response in the dermis and in most of the cases with complete recovery from the lesion. Most of the cases in the study were chronic dermatitis and sebhoric keratosis, almost all local/focal pigmented lesions is totally relieved by leech therapy especially in cases of sebhoric keratosis. Conclusion: In the present study it was found that, leech application evokes significant changes at histological level specifically in reduction of inflammatory component, hyperkeratosis, spongiosis and irregular acanthosis. It was also found that there was a considerable formation of granulation tissue, which helps in formation of healthy new tissues.

Keywords: acanthosis, eczema, hyperkeratosis, leech application, spongiosis

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Authors: Opara Monica, Suriani Ismail, Ahmad Iqmer Nashriq Mohd Nazan

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The true magnitude of the mortality and morbidity attributable to malaria worldwide is, at best, a scientific guess, although it is not disputable that the greatest burden is in sub-Saharan Africa. Those at highest risk are children younger than 5 years and pregnant women, particularly primigravidae. Nationally, malaria remains the third leading cause of death and is still considered a major public health problem. Therefore, this study is aimed to assess the effectiveness of health education intervention on insecticide-treated net use and its practices among pregnant women attending antenatal clinics. Materials and Methods: This study will be an intervention study with two arms double parallel randomized controlled trial (blinded) to be conducted in 3 stages. The first stage will develop health belief model (HBM) program, while in the second stage, pregnant women will be recruited, assessed (baseline data), randomized into two arms of the study, and follow-up for six months. The third stage will evaluate the impact of the intervention on HBM and disseminate the findings. Data will be collected with the use of a structured questionnaire which will contain validated tools. The main outcome measurement will be the treatment effect using HBM, while data will be analysed using SPSS, version 22. Discussion: The study will contribute to the existing knowledge on hospital-based care programs for pregnant women in developing countries where the literature is scanty. It will generally give insight into the importance of HBM measurement in interventional studies on malaria and other related infectious diseases in this setting.

Keywords: malaria, health education, insecticide-treated nets, sub-Saharan Africa

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Authors: Thabiso Michael Mokotjomela, Jasper Knight

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Intensification of agricultural food production in sub-Saharan Africa is of paramount importance as a means of increasing the food security of communities that are already experiencing a range of environmental and socio-economic stresses. However, achieving this aim faces several challenges including ongoing climate change, increased resistance of diseases and pests, extreme environmental degradation partly due to biological invasions, land tenure and management practices, socio-economic developments of rural populations, and national population growth. In particular, non-native plant species tend to display greater adaptation capacity to environmental stress than native species that form important food resource base for human beings, thus suggesting a potential for usage to shift accordingly. Based on review of the historical benefits of non-native plant species in food production in sub-Saharan Africa, we propose that use of non-invasive, non-native plant species and/or the genetic modification of native species might be viable options for future agricultural sustainability in this region. Coupled with strategic foresight planning (e.g. use of biological control agents that suppress plant species’ invasions), the consumptive use of already-introduced non-native species might help in containment and control of possible negative environmental impacts of non-native species on native species, ecosystems and biodiversity, and soil fertility and hydrology. Use of non-native species in food production should be accompanied by low cost agroecology practices (e.g. conservation agriculture and agrobiodiversity) that may promote the gradual recovery of natural capital, ecosystem services, and promote conservation of the natural environment as well as enhance food security.

Keywords: food security, invasive species, agroecology, agrobiodiversity, socio-economic stresses

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Authors: Howaida I. Abd-Alla, Amal Z. Hassan, Maha Soltan, Atef G. Hanna, Mounir M. El-Safty

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Acokanthera oblongifolia (Apocynaceae) is used for treatment of several infection diseases and is a well-known cardiac glycoside-containing plant. The infusion of their leaves is gargled to treat tonsillitis and is used medicinally to treat snakebites. The total cardiac glycosides content in the leaves was determined by referring to gitoxigenin as a reference compound. Two triterpenes, lup-20(29)-en-3β-ol (1) and oleanolic acid (2); two cardenolides, acovenoside A (3) and acobioside A (4) were isolated from the ethyl acetate extract. Their structures were determined on the basis of spectral analysis. Major constituents isolated from this species were evaluated for cytotoxicity against normal lung cell line (Wi38) and antimicrobial activities against Gram-positive (two strains) and Gram-negative bacteria (four strains), yeast-like fungi (two strains) and fungi (five strains). The minimum inhibitory concentration (MIC) of the compounds was determined using broth microdilution method. Their viral inhibitory effects against avian influenza virus type A (AI-H5N1) and Newcastle disease virus (NDV) in specific pathogen free (SPF) embryonated chicken eggs (ECE), chicken embryo fibroblasts (CEF) and Vero cells were evaluated. The cardenolide (3) showed viral inhibitory effects against AI-H5N1 and NDV in SPF ECE. The two cardenolides isolated have shown potent cytotoxicity against Vero cells. Compound (3) showed potent anti-Gram-negative bacteria activity. These results suggested that acovenoside A might be promising for future antiviral and antimicrobial drug design.

Keywords: Acokanthera, AI-H5N1, Cardenolides, NDV, SPF-ECE, VERO, Wi38 , Microbe

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Authors: Syed Qasim Gilani, Muhammad Umair, Muhammad Noman, Syed Bilawal Shah, Aqib Abbasi, Muhammad Waheed

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Cardiovascular Diseases(CVD's) are the major cause of death in the world. The main reason for these deaths is the unavailability of first aid for heart failure. In many cases, patients die before reaching the hospital. We in this paper are presenting innovative online health service for Cardiac Patients. The proposed online health system has two ends. Users through device developed by us can communicate with their doctor through a mobile application. This interface provides them with first aid.Also by using this service, they have an easy interface with their doctors for attaining medical advice. According to the proposed system, we developed a device called Cardiac Care. Cardiac Care is a portable device which a patient can use at their home for monitoring heart condition. When a patient checks his/her heart condition, Electrocardiogram (ECG), Blood Pressure(BP), Temperature are sent to the central database. The severity of patients condition is checked using Artificial Intelligence Algorithm at the database. If the patient is suffering from the minor problem, our algorithm will suggest a prescription for patients. But if patient's condition is severe, patients record is sent to doctor through the mobile Android application. Doctor after reviewing patients condition suggests next step. If a doctor identifies the patient condition as critical, then the message is sent to the central database for sending an ambulance for the patient. Ambulance starts moving towards patient for bringing him/her to hospital. We have implemented this model at prototype level. This model will be life-saving for millions of people around the globe. According to this proposed model patients will be in contact with their doctors all the time.

Keywords: cardiovascular disease, classification, electrocardiogram, blood pressure

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Authors: E. Rama Devi Jothilingam

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Diabetes mellitus is now one of the most common non communicable diseases globally. India leads the world with largest number of diabetic subjects earning the title "diabetes capital of the world". In order to reduce the mortality rate, a fuzzy expert system is designed to predict the severity of cardiac and renal problems of diabetic patients using fuzzy logic. Since uncertainty is inherent in medicine, fuzzy logic is used in this research work to remove the inherent fuzziness of linguistic concepts and uncertain status in diabetes mellitus which is the prime cause for the cardiac arrest and renal failure. In this work, the controllable risk factors "blood sugar, insulin, ketones, lipids, obesity, blood pressure and protein/creatinine ratio" are considered as input parameters and the "the stages of cardiac" (SOC)" and the stages of renal" (SORD) are considered as the output parameters. The triangular membership functions are used to model the input and output parameters. The rule base is constructed for the proposed expert system based on the knowledge from the medical experts. Mamdani inference engine is used to infer the information based on the rule base to take major decision in diagnosis. Mean of maximum is used to get a non fuzzy control action that best represent possibility distribution of an inferred fuzzy control action. The proposed system also classifies the patients with high risk and low risk using fuzzy c means clustering techniques so that the patients with high risk are treated immediately. The system is validated with Matlab and is used as a tracking system with accuracy and robustness.

Keywords: Diabetes mellitus, fuzzy expert system, Mamdani, MATLAB

Procedia PDF Downloads 294

Authors: A. F. C. Nassar, D. K. Tessler, L. Okuda, C. Del Fava, D. P. Chiebao, A. H. C. N. Romaldini, A. P. Alvim, M. J. Sanchez-Vazquez, M. S. Rosa, J. C. Pompei, R. Harakava, M. C. S. Araujo, G. H. F. Marques, E. M. Pituco

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Glanders is a zoonotic disease of Equidae caused by the bacterium Burkholderia mallei presented in acute or chronic clinical forms with inflammatory nodules in the respiratory tract, lymphangitis and caseous lymph nodes. There is not a treatment with veterinary drugs to this life-threatening disease; thus, its occurrence must be notified to official animal health services and any infected animal must be eliminated. This study aims to detect B. mallei from horses euthanized in outbreaks of glanders in Brazil, providing a better understanding of the bacterial characteristics and determine a proper protocol for isolation. The work was carried out with the collaboration of the Ministry of Agriculture and the Sao Paulo State Animal Health Department, while its procedures were approved by the Committee of Ethics in Animal Experimentation from the Instituto Biologico (CETEA n°156/2017). To the present time, 16 horses from farms with outbreaks of glanders detected by complement fixation test (CFT) serology method were analyzed. During the necropsy, samples of possibly affected organs (lymph nodes, lungs, heart, liver, spleen, kidneys and trachea) were collected for bacterial isolation, molecular tests and pathology. Isolation was performed using two enriched mediums, a potato infusion agar with 5% sheep blood, 4% glycerol and antibiotics (penicilin100U/ mL), and another with the same ingredients except the antibiotic. A PCR protocol was modified for this study using primers design to identify a region of the Flip gen of B. mallei. Thru isolation, 12.5% (2/16) animals were confirmed positive using only the enriched medium with antibiotic and confirmed by PCR: from mediastinal and submandibular lymph nodes and lungs in one animal and from mediastinal lymph node in the other. The detection of the bacterium using PCR showed positivity of 100% (16/16) horses from 144 samples of organs. Pathology macroscopic lesions observed were catarrhal nasal discharge, fetlock ulcers, emaciation, lymphangitis in limbs, suppurative lymphangitis, lymph node enlargement, star shaped liver, and spleen scars, adherence of the renal capsule, pulmonary hemorrhage, and miliary nodules. Microscopic lesions were suppurative bronchopneumonia with microabscesses and Langhans giant cells in lungs; lymph nodes with abscesses and intense lymphoid reaction; hemosiderosis and abscesses in spleen. Positive samples on PCR will be sequenced later and analyzed comparing with previous records in the literature. A throughout description of the recent acute cases of glanders occurring in Brazil and characterization of the bacterium related will contribute to advances in the knowledge of the pathogenicity, clinical symptoms, and epidemiology of this zoonotic disease. Acknowledgment: This project is sponsored by FAPESP.

Keywords: equines, bacterial isolation, zoonosis, PCR, pathology

Procedia PDF Downloads 139

Authors: Sung Un Kim, Ivana Martinović, Snježana Stanarević Katavić

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As more and more youth use mobile devices, such as tablets and smartphones, for information seeking in their everyday lives, the purpose of this study is to understand the behaviors of youth seeking health information on mobile devices. The specific objective of this study is to examine 1) for what health issues youth use mobile devices, 2) for what reasons youth use mobile devices to obtain health information, 3) in what ways youth use mobile devices for health information, and 4) the features of health applications that youth find useful. The researchers devised a questionnaire for this study. Four hundred eight students from two high schools, located in Osijek, Croatia, participated by answering the questionnaire (281 girls and 127 boys). The collected data were analyzed using descriptive statistics and content analysis. The results show that among all participants, about 85 percent (n = 344) reported having used mobile devices for health information. The most frequent health topic for which they had been using mobile devices is physical activity (n = 273), followed by eating issues and nutrition (n = 224), mental health (n = 160), sexual health (n = 157), alcohol, drugs, and tobacco (n = 125), safety (n = 96) and particular diseases (n = 62). They use mobile devices to obtain health information due to the ease of use (n = 342), the ease of sharing health information (n = 281), portability (n = 215), timeliness (n = 162), and the ease of tracking/recording/monitoring health status (n = 147). Of those who have used mobile devices for health information, three-quarters (n = 261) use mobile devices to search health information, while 32.8% (n =113) use applications and 31.7% (n =109) browse information. Those who have used applications for health information (n = 113) consider the alert feature (n=107) as the most useful, followed by the tracking/recording/monitoring feature (n =92), the customized information feature (n = 86), the video feature (n = 58), and the sharing feature (n =39). It is notable that although health applications have been actively developed and studied, a majority of the participants search for or browse information on mobile devices, instead of using applications. The researchers will discuss reasons that some of them did not use mobile devices to obtain health information, students’ concerns about using health applications, and features that they wish to have in health applications.

Keywords: Croatia, health information, information seeking behaviors, mobile devices, youth

Procedia PDF Downloads 405

Authors: Orapan Thosingha, Tassana Boontong, Prapa Yuttatri, Vilaivan Thongcharoen, Soparn Potaya, Mattika Chaichan, Chanin Chakkrapopyodhin, Khwanthida Phimphakarn, Taddao Nabnean

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This research aimed to explore symptom experiences among Thai adults with chronic illnesses living in an urban community area of Bangkok. The sample was 670 adults with ages ranging from 20-59 years. The majority of them (65.2%) had more than one disease. Hypertension, dyslipidemia, and diabetes were the first three diseases among them. About 58% were female, and 51.1 % stayed with their couples. The studied sample had relatively low socioeconomic status; 33.7% were wage workers, 15.2% were street vendors, and 10.4% were unemployed. About 54 % had family incomes less than 10,000 baht (300 US Dollars) per month, and 41.6% addressed that their incomes were not adequate for daily living. Although the majority of them (63.7%) did not have to pay for hospital visits, they still had to pay for public transportation and could not earn a wage or any income on the hospital visit day. The first three physical symptoms they experienced were knee pain (60.5%) due to being overweight, headache (47.0%), and insomnia (44.6%). About 45% stated that their incomes decreased after having chronic illnesses and 37.2% expressed that having lower incomes affected their living, 34.5% perceived being a burden, and 34.3% regret about depending on others. It can be concluded that adults with low socioeconomic status who experienced chronic illnesses and resided in an urban community area had complex needs. While caring for them, nurses should pay attention not only to a disease-related domain but also to a social-related domain. Reached-out clinics led by professional nurses who are well-prepared for primary medical care and home visit are strongly recommended. National Health Security Office should adopt this policy and develop an action plan to serve the needs of chronically ill adults with low socioeconomic status.

Keywords: chronic illnesses, urban community, socioeconomic status, symptom experiences, low incomes

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Authors: Gokulan Vethanayakam, Daniel Aston

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Introduction: The ReSPECT process supports healthcare professionals when making patient-centered decisions in the event of an emergency. It has been widely adopted by the NHS in England and allows patients to express thoughts and wishes about treatments and outcomes that they consider acceptable. It includes (but is not limited to) cardiopulmonary resuscitation decisions. ReSPECT conversations should ideally occur prior to ICU admission and should be documented in the eight sections of the nationally-standardised ReSPECT form. This audit evaluated the use of ReSPECT on a busy cardiothoracic ICU in an NHS Trust where established policies advocating its use exist. Methods: This audit was a retrospective review of ReSPECT forms for a sample of high-risk patients admitted to ICU at the Royal Papworth Hospital between January 2021 and March 2022. Patients all received one of the following interventions: Veno-Venous Extra-Corporeal Membrane Oxygenation (VV-ECMO) for severe respiratory failure (retrieved via the national ECMO service); cardiac or pulmonary transplantation-related surgical procedures (including organ transplants and Ventricular Assist Device (VAD) implantation); or elective non-transplant cardiac surgery. The quality of documentation on ReSPECT forms was evaluated using national standards and a graded ranking tool devised by the authors which was used to assess narrative aspects of the forms. Quality was ranked as A (excellent) to D (poor). Results: Of 230 patients (74 VV-ECMO, 104 transplant, 52 elective non-transplant surgery), 43 (18.7%) had a ReSPECT form and only one (0.43%) patient had a ReSPECT form completed prior to ICU admission. Of the 43 forms completed, 38 (88.4%) were completed due to the commencement of End of Life (EoL) care. No non-transplant surgical patients included in the audit had a ReSPECT form. There was documentation of balance of care (section 4a), CPR status (section 4c), capacity assessment (section 5), and patient involvement in completing the form (section 6a) on all 43 forms. Of the 34 patients assessed as lacking capacity to make decisions, only 22 (64.7%) had reasons documented. Other sections were variably completed; 29 (67.4%) forms had relevant background information included to a good standard (section 2a). Clinical guidance for the patient (section 4b) was given in 25 (58.1%), of which 11 stated the rationale that underpinned it. Seven forms (16.3%) contained information in an inappropriate section. In a comparison of ReSPECT forms completed ahead of an EoL trigger with those completed when EoL care began, there was a higher number of entries in section 3 (considering patient’s values/fears) that were assessed at grades A-B in the former group (p = 0.014), suggesting higher quality. Similarly, forms from the transplant group contained higher quality information in section 3 than those from the VV-ECMO group (p = 0.0005). Conclusions: Utilisation of the ReSPECT process in high-risk patients is yet to be well-adopted in this trust. Teams who meet patients before hospital admission for transplant or high-risk surgery should be encouraged to engage with the ReSPECT process at this point in the patient's journey. VV-ECMO retrieval teams should consider ReSPECT conversations with patients’ relatives at the time of retrieval.

Keywords: audit, critical care, end of life, ICU, ReSPECT, resuscitation

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Authors: Alireza Monzavi Chaleshtari, Mahnaz Aliakbari Dehkordi, Nazila Esmaeili, Ahmad Alipour, Amin Asadi Hieh

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Headache disorders are one of the most common disorders of the nervous system and are associated with suffering, disability, and financial costs for patients. Mindfulness as a lifestyle, in line with human nature, has the ability to affect the emotional system, i.e. thoughts, body sensations, raw emotions and action impulses of people. The aim of this study was to test the fit of structural model of mindfulness and severity of headache mediated by resilience and perfectionism in patients with migraine. Methods: The statistical population of this study included all patients with migraine referred to neurologists in Tehran in the spring and summer of 1401. The inclusion criteria were diagnosis of migraine by a neurologist, not having mental disorders or other physical diseases, and having at least a diploma. According to the number of research variables, 180 people were selected by convenience sampling method, which online answered the Ahvaz perfectionism questionnaire (AMQ), Connor and Davidson resilience questionnaire (CD-RISC), Ahvaz migraine headache questionnaire (APS) and 5-factor mindfulness questionnaire ((MAAS). Data were analyzed using structural equation modeling and Amos software. Results: The results showed that the direct pathways of mindfulness were not significant for severe headache (P <0.05), but other direct pathways - mindfulness to resilience, mindfulness to perfectionism, resilience to severe headache and perfectionism to severe headache), Was significant (P <0.01). After modifying and removing the non-significant paths, the final model fitted. Mediating variables Resilience and perfectionism mediated all paths of predictor variables to the criterion. Conclusion: According to the findings of the present study, mindfulness in migraine patients reduces the severity of headache by promoting resilience and reducing perfectionism.

Keywords: migraine, headache severity, mindfulness, resilience, perfectionism

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Authors: Muhammad Atif Randhawa, Adnan Amjad, Muhammad Nadeem

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Potato (Solanum tuberosum) popularly known as ‘the king of vegetables’, has emerged as fourth most important food crop after rice, wheat and maize. Potato contains carbohydrates, minerals, vitamins and antioxidants. The antioxidants of potatoes especially vitamin C helps in reducing cancer, cardiovascular diseases and high blood pressure by binding free radicals. Physical characteristics and some major chemical properties of potato tubers at fresh and stored stages were investigated. Two varieties of potatoes, Sante (V1) having white colour and Lal moti (V2) with red colour were stored for 3 months and analysis were performed after each month interval. Physical and chemical attributes including weight loss, sprouting, specific gravity, pH, total sugars (reducing and non-reducing sugars) and vitamin C were analyzed before and after storage. Value of weight loss at zero day was null but it increased to 6.45% after 90 days on average in both cultivars and sprouting increased gradually at the end of 90 days. Moreover total sugars were 3.10% at zero day but increased to 9.30% after 90 days. Ascorbic acid was decreased during storage from 17.49(mg/100g) to 3.79. Both varieties of potato were stored at 60C and 120C temperatures with 85% relative humidity in order to prolong their acceptability in the market. The storage conditions influence the potatoes quality and consequently their acceptability to consumer. The data was analyzed statistically and clarifies that total sugars, weight loss, sprouting and specific gravity increase during the storage period while ascorbic acid (Vit-C) and pH decreased. Among both varieties that were stored at 60C and 120C, Sante (V1) was better than Lal moti (V2) due to less physicochemical and quality changes at 60C as compared to store at 120C.

Keywords: physicochemical, potato, quality attributes, storage

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Authors: H. M. B. N Jayasinghe

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The water is found almost everywhere on Earth. Water resources contain a lot of pollution. Some diseases can be spread through the water to the living beings. So to be clean water it should undergo a number of treatments necessary to make it drinkable. So it is must to have purification technology for the wastewater. So the waste water treatment plants act a major role in these issues. When considering the procedures taken after the water treatment process was always based on manual calculations and recordings. Water purification plants may interact with lots of manual processes. It means the process taking much time consuming. So the final evaluation and chemical, biological treatment process get delayed. So to prevent those types of drawbacks there are some computerized programmable calculation and analytical techniques going to be introduced to the laboratory staff. To solve this problem automated system will be a solution in which guarantees the rational selection. A decision support system is a way to model data and make quality decisions based upon it. It is widely used in the world for the various kind of process automation. Decision support systems that just collect data and organize it effectively are usually called passive models where they do not suggest a specific decision but only reveal information. This web base system is based on global positioning data adding facility with map location. Most worth feature is SMS and E-mail alert service to inform the appropriate person on a critical issue. The technological influence to the system is HTML, MySQL, PHP, and some other web developing technologies. Current issues in the computerized water chemistry analysis are not much deep in progress. For an example the swimming pool water quality calculator. The validity of the system has been verified by test running and comparison with an existing plant data. Automated system will make the life easier in productively and qualitatively.

Keywords: automated system, wastewater, purification technology, map location

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Authors: Mahfoodha Al-Kitani, Dylan Thompson, Keith Stokes

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Sickle cell disease (SCD) and sickle cell trait (SCT) are the most common hematological diseases in Oman according to the national survey of genetic blood disorders. The aim of this study was to determine markers of physical fitness and anthropometrics indices in children with sickle cell disease and children with sickle cell trait and compare them with normal healthy children of the same age. One hundred and twenty male children participated in the present study divided to three groups: 40 with sickle disease (SCD; age, 13.3(.80), height, 131.9(3.5), mass, 29.2(3.1)); 40 with sickle cell trait (SCT; age, 12.2(.80), height, 141.0(9.9), mass, 38.0(4.4)); and 40 controls with normal hemoglobin (Con; age, 12.8(.80), height, 139.4(8.7), mass, 37.2(4.3)). All children completed a 5-min running exercise test on a treadmill at speed corresponding to 5 km/hr. Heart rate and was recorded during exercise and during 10-min of recovery. Blood lactate was measured before and 5 min after the completion of exercise. Children with SCD exhibited a higher mean value (P < 0.05) for percent body fat and fat mass than the normal healthy subjects and SCT subjects. Resting values of hemoglobin were similar in SCT (11.04(.78)) and control (10.8(94)) groups, and lower in SCD (8.89(.54); P < 0.05). There was a strong correlation between peak heart rate and resting hemoglobin levels for the three groups (r= -.472. n= 120, p < .0005).The SCD group (175.2(10.3)) exhibited higher mean heart rate during exercise than those observed in the SCT (143.7(9.5)) and normal control children (144.5(22.4); P < 0.05). Additionally, SCD children showed higher serum lactate values before and after treadmill exercise compared to the other groups (P < 0.05). Children with sickle cell trait demonstrate similar physical fitness level and similar exercise responses to treadmill stress test to normal children. In contrast, SCD children have lower body mass, higher fat mass and lower physical fitness than children with SCT and healthy controls.

Keywords: sickle cell disease, sickle cell trait, children, exercise

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Authors: Niki Hayatgheib, SéGolèNe Calvez, Catherine Fournel, Lionel Pineau, Herve Pouliquen, Emmanuelle Moreau

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Furunculosis caused by infection with Aeromonas salmonicida subsp. salmonicida has been a known disease found principally in salmonid aquaculture. Vaccination has been partly successful in preventing this disease, but outbreaks still occur. The application of functional feed additive found to be a promising yield to improve fish health against diseases. In this study, we tested the efficacy of prebiotics and plant essential oils-enriched diet on immune response and disease resistance in vaccinated and non-vaccinated rainbow trout (Oncorhynchus mykiss) against furunculosis. A total of 600 fish were fed with the basal diet or supplement. On 4th week of feeding, fish were vaccinated with an autovaccine. Following 8 weeks, fish were challenged with Aeromonas salmonicida subsp. salmonicida and mortalities were recorded for 3 weeks. Lysozyme activity and antibody titer in serum were measured in different groups. The results of this study showed that lysozyme and circulatory antibody titer in plasma elevated significantly in vaccinated fish fed with additive. The best growth rate and relative percentage survival (62%) were in fish fed with a supplement, while 15% in control fish. Overall, prebiotics and essential oils association can be considered as a potential component for enhancing vaccine efficacy against furunculosis by increasing the growth performance, immune responses and disease resistance in rainbow trout.

Keywords: aeromonas salmonicida subsp. salmonicida, aquaculture, disease resistance, fish, immune response, prebiotics-essential oils feed additive, rainbow trout, vaccination

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Authors: Halimatu S. Abdullahi, Ray E. Sheriff, Fatima Mahieddine

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Agriculture is essential to the continuous existence of human life as they directly depend on it for the production of food. The exponential rise in population calls for a rapid increase in food with the application of technology to reduce the laborious work and maximize production. Technology can aid/improve agriculture in several ways through pre-planning and post-harvest by the use of computer vision technology through image processing to determine the soil nutrient composition, right amount, right time, right place application of farm input resources like fertilizers, herbicides, water, weed detection, early detection of pest and diseases etc. This is precision agriculture which is thought to be solution required to achieve our goals. There has been significant improvement in the area of image processing and data processing which has being a major challenge. A database of images is collected through remote sensing, analyzed and a model is developed to determine the right treatment plans for different crop types and different regions. Features of images from vegetations need to be extracted, classified, segmented and finally fed into the model. Different techniques have been applied to the processes from the use of neural network, support vector machine, fuzzy logic approach and recently, the most effective approach generating excellent results using the deep learning approach of convolution neural network for image classifications. Deep Convolution neural network is used to determine soil nutrients required in a plantation for maximum production. The experimental results on the developed model yielded results with an average accuracy of 99.58%.

Keywords: convolution, feature extraction, image analysis, validation, precision agriculture

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Authors: Pardis Abolghasemi, Benyamin Hatamsaz

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Background: Diabetic nephropathy is a serious health problem described by specific kidney structure and functional disturbance. Renoprotective effects of the stem cells secretase have been shown in many kidney diseases. The aim is to evaluate the capability of human Wharton’s jelly mesenchymal stem cells conditioned media (hWJMSCs-CM) to alleviate DN in streptozotocin (STZ)-induced diabetes. Methods: Diabetic nephropathy was induced by injection of STZ (60 mg/kg, IP) in twenty rats. Conditioned media was extracted from hWJMSCs at third passages. At week 8, diabetic rats were divided into two groups: treated (hWJMSCs-CM, 500 μl/rat for three weeks, IP) and not treated (DN). In the 11th week, three groups (control, DN and DN+hWJMSCs-CM) were kept in metabolic cages and urine was collected for 24h. Blood pressure (BP) and heart rate (HR) were continuously recorded. The serum samples were maintained for measuring BUN, Cr and angiotensin-converting enzyme (ACE) activity. The left kidney was kept at -80°C for ACE activity assessment. The right kidney and pancreas were used for histopathologic evaluation. Result: Diabetic nephropathy was detected by microalbuminuria and increased albumin/creatinine ratio, as well as the pancreas and renal structural disturbance. Glomerular filtration rate, BP and HR increased in the DN group. The ACE activity was elevated in the serum and kidneys of the DN group. Administration of hWJMSCs-CM modulated the renal functional and structural disturbance and decreased the ACE activity. Conclusion: Conditioned media was extracted from hWJMSCs may have a Renoprotective effect in diabetic nephropathy. This may happen through regulation of ACE activity and renin-angiotensin system inhibition.

Keywords: diabetic nephropathy, mesenchymal stem cells, immunomodulation, anti-inflammation

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Authors: Radka Obořilová, Hana Šimečková, Matěj Pastucha, Jan Přibyl, Petr Skládal, Ivana Mašlaňová, Zdeněk Farka

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Due to the spreading of antimicrobial resistance, alternative approaches to combat superinfections are being sought, both in the field of lysing agents and methods for studying bacterial lysis. A suitable alternative to antibiotics is phage therapy and enzybiotics, for which it is also necessary to study the mechanism of their action. Biosensor-based techniques allow rapid detection of pathogens in real time, verification of sensitivity to commonly used antimicrobial agents, and selection of suitable lysis agents. The detection of lysis takes place on the surface of the biosensor with immobilized bacteria, which has the potential to be used to study biofilms. An example of such a biosensor is surface plasmon resonance (SPR), which records the kinetics of bacterial lysis based on a change in the resonance angle. The bacteria are immobilized on the surface of the SPR chip, and the action of phage as the mass loss is monitored after a typical lytic cycle delay. Atomic force microscopy (AFM) is a technique for imaging of samples on the surface. In contrast to electron microscopy, it has the advantage of real-time imaging in the native conditions of the nutrient medium. In our case, Staphylococcus aureus was lysed using the enzyme lysostaphin and phage P68 from the familyPodoviridae at 37 ° C. In addition to visualization, AFM was used to study changes in mechanical properties during lysis, which resulted in a reduction of Young’s modulus (E) after disruption of the bacterial wall. Changes in E reflect the stiffness of the bacterium. These advanced methods provide deeper insight into bacterial lysis and can help to fight against bacterial diseases.

Keywords: biosensors, atomic force microscopy, surface plasmon resonance, bacterial lysis, staphylococcus aureus, phage P68

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Authors: Rama Krishna Supramanian, Marzuki Isahak, Noran Naqiah Hairi

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Noise-induced hearing loss (NIHL) is one of the highest recorded occupational diseases, despite being preventable. Hearing Conservation Program (HCP) is designed to protect workers hearing and prevent them from developing hearing impairment due to occupational noise exposures. However, there is still a lack of evidence regarding the effectiveness of this program. The purpose of this study was to determine the effectiveness of a Hearing Conservation Program (HCP) in preventing or reducing audiometric threshold changes among vector control workers. This study adopts a cluster randomized controlled trial study design, with district health offices as the unit of randomization. Nine district health offices were randomly selected and 183 vector control workers were randomized to intervention or control group. The intervention included a safety and health policy, noise exposure assessment, noise control, distribution of appropriate hearing protection devices, training and education program and audiometric testing. The control group only underwent audiometric testing. Audiometric threshold changes observed in the intervention group showed improvement in the hearing threshold level for all frequencies except 500 Hz and 8000 Hz for the left ear. The hearing threshold changes range from 1.4 dB to 5.2 dB with largest improvement at higher frequencies mainly 4000 Hz and 6000 Hz. Meanwhile for the right ear, the mean hearing threshold level remained similar at 4000 Hz and 6000 Hz after 3 months of intervention. The Hearing Conservation Program (HCP) is effective in preserving the hearing of vector control workers involved in fogging activity as well as increasing their knowledge, attitude and practice towards noise-induced hearing loss (NIHL).

Keywords: adult, hearing conservation program, noise-induced hearing loss, vector control worker

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Authors: Jianhua Zhang, Weiping Chen, Guanjie Chen, Jason Flannick, Emma Fikse, Glenda Smerin, Yanqin Yang, Yulong Li, John A. Hanover, William F. Simonds

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Ethnic disparities in many diseases are well recognized and reflect the consequences of genetic, behavior, and environmental factors. However, direct scientific evidence connecting the ethnic genetic variations and the disease disparities has been elusive, which may have led to the ethnic inequalities in large scale genetic studies. Through the genome-wide analysis of data representing 185,934 subjects, including 14,955 from our own studies of the African America Diabetes Mellitus, we discovered sets of genetic variants either unique to or conserved in all ethnicities. We further developed a quantitative gene function-based high-risk variant index (hrVI) of 20,428 genes to establish profiles that strongly correlate with the subjects' self-identified ethnicities. With respect to the ability to detect human essential and pathogenic genes, the hrVI analysis method is both comparable with and complementary to the well-known genetic analysis methods, pLI and VIRlof. Application of the ethnicity-specific hrVI analysis to the type 2 diabetes mellitus (T2DM) national repository, containing 20,791 cases and 24,440 controls, identified 114 candidate T2DM-associated genes, 8.8-fold greater than that of ethnicity-blind analysis. All the genes identified are defined as either pathogenic or likely-pathogenic in ClinVar database, with 33.3% diabetes-associated and 54.4% obesity-associated genes. These results demonstrate the utility of hrVI analysis and provide the first genetic evidence by clustering patterns of how genetic variations among ethnicities may impede the discovery of diabetes and foreseeably other disease-associated genes.

Keywords: diabetes-associated genes, ethnic health disparities, high-risk variant index, hrVI, T2DM

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Authors: Alireza Pirkhaefi

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Background: Multiple sclerosis (MS) is one of the most common diseases of the central nervous system (brain and spinal cord). Given the importance of cognitive disorders in patients with multiple sclerosis, the present study was in order to compare cognitive functions (Working memory, Attention and Centralization, and Visual-spatial perception) in patients with relapsing- remitting multiple sclerosis (RRMS) and secondary progressive multiple sclerosis (SPMS). Method: Present study was performed as a retrospective study. This research was conducted with Ex-Post Facto method. The samples of research consisted of 60 patients with multiple sclerosis (30 patients relapsing-retrograde and 30 patients secondary progressive), who were selected from Tehran Community of MS Patients Supported as convenience sampling. 30 normal persons were also selected as a comparison group. Montreal Cognitive Assessment (MOCA) was used to assess cognitive functions. Data were analyzed using multivariate analysis of variance. Results: The results showed that there were significant differences among cognitive functioning in patients with RRMS, SPMS, and normal individuals. There were not significant differences in working memory between two groups of patients with RRMS and SPMS; while significant differences in these variables were seen between the two groups and normal individuals. Also, results showed significant differences in attention and centralization and visual-spatial perception among three groups. Conclusions: Results showed that there are differences between cognitive functions of RRMS and SPMS patients so that the functions of RRMS patients are better than SPMS patients. These results have a critical role in improvement of cognitive functions; reduce the factors causing disability due to cognitive impairment, and especially overall health of society.

Keywords: multiple sclerosis, cognitive function, secondary-progressive, normal subjects

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Authors: Tugba Sevinc Gamsiz, Emine Koroglu, Ozcan Keskin

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Aim: Nonalcoholic fatty liver disease (NAFLD) is considered the most common chronic liver disease in the general population. The higher mortality and morbidity among NAFLD patients and lack of symptoms makes early detection and management important. In our study, we aimed to evaluate the relationship between noninvasive imaging and biochemical markers in diabetic and nondiabetic patients diagnosed with NAFLD. Materials and Methods: The study was conducted from (September 2017) to (December 2017) on adults admitted to Internal Medicine and Gastroenterology outpatient clinics with hepatic steatosis reported on ultrasound or transient elastography within the last six months that exclude patients with other liver diseases or alcohol abuse. The data were collected and analyzed retrospectively. Number cruncher statistical system (NCSS) 2007 program was used for statistical analysis. Results: 116 patients were included in this study. Diabetic patients compared to nondiabetics had significantly higher Controlled Attenuation Parameter (CAP), Liver Stiffness Measurement (LSM) and fibrosis values. Also, hypertension, hepatomegaly, high BMI, hypertriglyceridemia, hyperglycemia, high A1c, and hyperuricemia were found to be risk factors for NAFLD progression to fibrosis. Advanced fibrosis (F3, F4) was present in 18,6 % of all our patients; 35,8 % of diabetic and 5,7 % of nondiabetic patients diagnosed with hepatic steatosis. Conclusion: Transient elastography is now used in daily clinical practice as an accurate noninvasive tool during follow-up of patients with fatty liver. Early diagnosis of the stage of liver fibrosis improves the monitoring and management of patients, especially in those with metabolic syndrome criteria.

Keywords: diabetes, elastography, fatty liver, fibrosis, metabolic syndrome

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Authors: Melvin Ouma

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Language is one of the most crucial tools in medical interaction. Its importance is as great today as it was many decades ago. Difficulty in openly discussing certain diseases and body parts is one of the challenges in language use in medical contexts. Guided by H. P. Grice’s Cooperative Principle, this paper explores the flouting of the cooperative principles in Swahili speaking medical setting. The paper examines how men flout the maxims using the Swahili language when reporting reproductive health problems to the doctor. The data used was gathered from a qualitative study carried out in a reproductive health clinic in a public facility in Nakuru County, Kenya. All the research protocols were observed by acquiring all the research permits. Respondents' ethical considerations of consent, privacy, and confidentiality were observed. The respondents recruited were men who visited the reproductive health clinic and voluntarily agreed to participate in the study without coercion or compensation. Participant observation was the key data collection tool, with the doctor and patient conversation digitally recorded. The researcher was allowed into the clinic in a socially acceptable role. Male patients flouted the maxims of quantity, quality, relation, and manner in order to describe their reproductive health problems without embarrassment using the Swahili language. The flouting was done through the discursive strategies of narration and circumlocution. Flouting of the maxims was acceptable to the doctor and patient due to the fact that sexual intercourse and private body parts are taboo topics and uncomfortable to talk about. The quality of health care received by the patient depended on the doctor’s patience when all the maxims were flouted. In the reproductive health clinic, flouting of maxims hindered communication and, at the same time, enhanced communication between the doctor and patient.

Keywords: cooperative principle, doctor, men, reproductive health

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Authors: Xi Yu, Lili Gu, Huizhu Wang, Xiao Wei, Dandan Sheng, Xiaoyan Jiang, Min Hong

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Introduction: Hypersensitivity disease is difficult to cure completely because of its recurrence, yupingfengsan (YPFS) is used to treat the diseases with the advantage of reducing the recurrence,but the precise mechanism is not clear. Previous studies of our laboratory have shown that the extract of YPFS can inhibit Th2-type allergic contact dermatitis(ACD) induced by FITC.Besides, thymic stromal lymphopoietin(TSLP) have been proved to be a master switch for allergic inflammation. Based on these studies, we want to establish a mouse model of TSLP production based on Th2 cell-mediated allergic inflammation to explore the regulating mechanisms of YPFS on TSLP in Th2 cell-mediated allergic inflammation. Methods: Th2-type ACD mouse model: The mice were topically sensitized on the abdomens (induction phase) and elicited on its ears skin 6 day later (excitation phase) with FITC solution, and the ear swelling was measured to evaluate the allergic inflammation；A mouse model of TSLP production based on Th2 cell-mediated allergic inflammation (TSLP production model): the skin of the ear was sensitized on two consecutive days with FITC solution causing the production of TSLP；Mice were treated with YPFS extract，ELISA、Real-time PCR and Western-blotting were using to examine the mRNA and protein levels of TSLP\TSLPR and TLRs ect. Results: YPFS extract can attenuates Th2-type allergic inflammatory in mice；in TSLP production model, YPFS can inhibit the expression of TSLP、 TSLPR、TLRs and MyD88, So we deduce the possible mechanisms of YPFS to play a role of intervention is through TLRs- MyD88 dependent and independent pathway to reduce TSLP production.

Keywords: YPFS, TSLP, TLRs, Th2-type allergic contact dermatitis

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Authors: Omolara Lade, David Oloke

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The approach to water management worldwide is currently in transition, with a shift from centralised infrastructures to greater consideration of decentralised technologies, such as rainwater harvesting (RWH). However, in Nigeria, implementation of sustainable water management, such as RWH systems, is inefficient and social, environmental and technical barriers, concerns and knowledge gaps exist, which currently restrict its widespread utilisation. This inefficiency contributes to water scarcity, water-borne diseases, and loss of lives and property due to flooding. Meanwhile, several RWH technologies have been developed to improve SWM through both demand and storm-water management. Such technologies involve the use of reinforced concrete cement (RCC) storage tanks, surface water reservoirs and ground-water recharge pits as storage systems. A framework was developed to assess the significance and extent of water management problems, match the problems with existing RWH-based solutions and develop a robust ready-to-use decision support tool that can quantify the costs and benefits of implementing several RWH-based storage systems. The methodology adopted was the mixed method approach, involving a detailed literature review, followed by a questionnaire survey of household respondents, Nigerian Architects and Civil Engineers and focus group discussion with stakeholders. 18 selection attributes have been defined and three alternatives have been identified in this research. The questionnaires were analysed using SPSS, excel and selected statistical methods to derive weightings of the attributes for the tool. Following this, three case studies were modelled using RainCycle software. From the results, the MDA model chose RCC tank as the most appropriate storage system for RWH.

Keywords: rainwater harvesting, modelling, hydraulic assessment, whole life cost, decision support system

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Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

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Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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