Search results for: clinical population
8582 System Dietadhoc® - A Fusion of Human-Centred Design and Agile Development for the Explainability of AI Techniques Based on Nutritional and Clinical Data
Authors: Michelangelo Sofo, Giuseppe Labianca
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In recent years, the scientific community's interest in the exploratory analysis of biomedical data has increased exponentially. Considering the field of research of nutritional biologists, the curative process, based on the analysis of clinical data, is a very delicate operation due to the fact that there are multiple solutions for the management of pathologies in the food sector (for example can recall intolerances and allergies, management of cholesterol metabolism, diabetic pathologies, arterial hypertension, up to obesity and breathing and sleep problems). In this regard, in this research work a system was created capable of evaluating various dietary regimes for specific patient pathologies. The system is founded on a mathematical-numerical model and has been created tailored for the real working needs of an expert in human nutrition using the human-centered design (ISO 9241-210), therefore it is in step with continuous scientific progress in the field and evolves through the experience of managed clinical cases (machine learning process). DietAdhoc® is a decision support system nutrition specialists for patients of both sexes (from 18 years of age) developed with an agile methodology. Its task consists in drawing up the biomedical and clinical profile of the specific patient by applying two algorithmic optimization approaches on nutritional data and a symbolic solution, obtained by transforming the relational database underlying the system into a deductive database. For all three solution approaches, particular emphasis has been given to the explainability of the suggested clinical decisions through flexible and customizable user interfaces. Furthermore, the system has multiple software modules based on time series and visual analytics techniques that allow to evaluate the complete picture of the situation and the evolution of the diet assigned for specific pathologies.Keywords: medical decision support, physiological data extraction, data driven diagnosis, human centered AI, symbiotic AI paradigm
Procedia PDF Downloads 268581 Evaluation of Anti-Pruritus Effect of Melatonin on Hemodialysis Patients with Uremic Pruritus: A Randomized Clinical Trial
Authors: Paria Baharvand, Mohammad Reza Abbasi, Soha Namazi
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Introduction: Uremic pruritus (UP) is one of the major complaints in hemodialysis patients. The aim of this randomized clinical trial study was the evaluation of the anti-pruritus effect of Melatonin on hemodialysis patients with UP. Methods: This multi-centered double, blinded randomized clinical trial study was conducted on hemodialysis patients with UP that referred to the dialysis department of Imam Khomeini Hospital, Labbafinezhad Hospital and Ghiasi Hospital in Tehran, Iran, in 2018. Forty participants were enrolled and block randomization was performed by using a randomized list and divided into 2 groups of twenty patients. Evaluation of the 12-Item Pruritus Severity Scale (12-PSS), Visual analog scale (VAS), and Calculation of the affected body surface area for pruritus extent (BSA %) was performed every week. The Melatonin group received a 10 mg soft gel capsule, and the placebo group received a soft gel capsule placebo after dinner. For statistical analysis used by SPSS version 21(IRCT20180714040462N1). Results: 38 hemodialysis patients enrolled in this study. The mean age in the placebo group and in the Melatonin group was 55.88 ± 11.70 and 54.52 ± 13.00 years (p> 0.05). Also, 46% of all participants were female. Aspartate transaminase, alanine transaminase and C-reactive protein have significant differences between the two groups (p< 0.05). VAS score reduction in the two groups had a statistically significant (CI 95% = -1.71, P= 0.015(.The results of BSA% showed Melatonin had a significant effect on the decrease of the pruritus extent compared to placebo (CI 95% = -22.82, P= 0.001(. Conclusion: According to the results of this study and the preliminary effects of Melatonin on uremic pruritus, we suggest performing advanced clinical trials studies.Keywords: Melatonin, Uremic Pruritus, hemodialysis, anti-pruritus
Procedia PDF Downloads 818580 Diaper Dermatitis and Pancytopenia as the Primary Manifestation in an Infant with Vitamin B12 Deficiency
Authors: Ekaterina Sánchez Romero, Emily Gabriela Aguirre Herrera, Sandra Luz Espinoza Esquerra, Jorge García Campos
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Female, 7 months old, daughter of a mother with anemia during pregnancy, with no history of atopy in the family, since birth she presents with recurrent dermatological and gastrointestinal infections, chronically treated for recurrent diaper dermatitis. At 6 months of age, she begins with generalized pallor, hyperpigmentation in hands and feet, smooth tongue, psychomotor retardation with lack of head support, sedation, and hypoactivity. She was referred to our hospital for a fever of 38°C, severe diaper rash, and pancytopenia with HB 9.3, platelets 38000, neutrophils 0.39 MCV: 86.80 high for her age. The approach was initiated to rule out myeloproliferative syndrome, with negative immunohistochemical results of bone marrow aspirate; during her stay, she presented neurological regression, lack of sucking, and focal seizures. CT scan showed cortical atrophy. The patient was diagnosed with primary immunodeficiency due to history; gamma globulin was administered without improvement with normal results of immunoglobulins and metabolic screening. When dermatological and neurological diagnoses were ruled out as the primary cause, a nutritional factor was evaluated, and a therapeutic trial was started with the administration of vitamin B12 and zinc, presenting clinical neurological improvement and resolution of pancytopenia in 2 months. It was decided to continue outpatient management. Discussion: We present a patient with neurological, dermatological involvement, and pancytopenia, so the most common differential diagnoses in this population were ruled out. Vitamin B12 deficiency is an uncommon entity. Due to maternal and clinical history, a therapeutic trial was started resulting in an improvement. Conclusion: VitaminB12 deficiency should be considered one of the differential diagnoses in the approach to pancytopenia with megaloblastic anemia associated with dermatologic and neurologic manifestations. Early treatment can reduce irreversible damage in these patients.Keywords: vitamin B12 deficiency, pediatrics, pancytopenia, diaper dermatitis
Procedia PDF Downloads 998579 Post COVID-19 Pandemic Determinants of Depression and Anxiety Among the Moroccan Population
Authors: Kaoutar Chbihi, Aziza Menouni, Imane Berni, Tarik Abchouch, Samir El Jaafari
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The unpredictability and ambiguity of a pandemic, combined with the economic impact, sedentary lifestyle, and increased living cost, have the potential to seriously raise the risk of mental health issues among the population. Therefore, this study had the aim to assess the magnitude of mental health outcomes and risk factors among the general population in Morocco in times of the Covid-19 pandemic. This study consisted of a cross-sectional design and was survey-based and region-stratified by collecting demographic data and mental health measurements from 523 participants. The degree of depression, anxiety, and insomnia symptoms were assessed by using the 9-item Patient Health Questionnaire and the 7-items Generalized Anxiety Disorder. The survey was completed by 523 individuals. Results showed that 67.9% were women, and 58.6% were aged 18-30 years. 49% of participants reported depression issues, while 39.8% experienced anxiety. Being a married woman with children was associated with severe symptoms of depression and anxiety. Finally, our findings reported a significant mental health burden among the general population of Morocco, which needs to be tackled by specific co-created interventions and adapted strategies in order to prevent impacts on public health.Keywords: anxiety, COVID-19, depression, mental health, Morocco, pandemic
Procedia PDF Downloads 818578 Revealing the Risks of Obstructive Sleep Apnea
Authors: Oyuntsetseg Sandag, Lkhagvadorj Khosbayar, Naidansuren Tsendeekhuu, Densenbal Dansran, Bandi Solongo
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Introduction: Obstructive sleep apnea (OSA) is a common disorder affecting at least 2% to 4% of the adult population. It is estimated that nearly 80% of men and 93% of women with moderate to severe sleep apnea are undiagnosed. A number of screening questionnaires and clinical screening models have been developed to help identify patients with OSA, also it’s indeed to clinical practice. Purpose of study: Determine dependence of obstructive sleep apnea between for severe risk and risk factor. Material and Methods: A cross-sectional study included 114 patients presenting from theCentral state 3th hospital and Central state 1th hospital. Patients who had obstructive sleep apnea (OSA)selected in this study. Standard StopBang questionnaire was obtained from all patients.According to the patients’ response to the StopBang questionnaire was divided into low risk, intermediate risk, and high risk.Descriptive statistics were presented mean ± standard deviation (SD). Each questionnaire was compared on the likelihood ratio for a positive result, the likelihood ratio for a negative test result of regression. Statistical analyses were performed utilizing SPSS 16. Results: 114 patients were obtained (mean age 48 ± 16, male 57)that divided to low risk 54 (47.4%), intermediate risk 33 (28.9%), high risk 27 (23.7%). Result of risk factor showed significantly increasing that mean age (38 ± 13vs. 54 ± 14 vs. 59 ± 10, p<0.05), blood pressure (115 ± 18vs. 133 ± 19vs. 142 ± 21, p<0.05), BMI(24 IQR 22; 26 vs. 24 IQR 22; 29 vs. 28 IQR 25; 34, p<0.001), neck circumference (35 ± 3.4 vs. 38 ± 4.7 vs. 41 ± 4.4, p<0.05)were increased. Results from multiple logistic regressions showed that age is significantly independently factor for OSA (odds ratio 1.07, 95% CI 1.02-1.23, p<0.01). Predictive value of age was significantly higher factor for OSA (AUC=0.833, 95% CI 0.758-0.909, p<0.001). Our study showing that risk of OSA is beginning 47 years old (sensitivity 78.3%, specifity74.1%). Conclusions: According to most of all patients’ response had intermediate risk and high risk. Also, age, blood pressure, neck circumference and BMI were increased such as risk factor was increased for OSA. Especially age is independently factor and highest significance for OSA. Patients’ age one year is increased likelihood risk factor 1.1 times is increased.Keywords: obstructive sleep apnea, Stop-Bang, BMI (Body Mass Index), blood pressure
Procedia PDF Downloads 3108577 Skin Manifestations in Children With Inborn Errors of Immunity in a Tertiary Care Hospital in Iran
Authors: Zahra Salehi Shahrbabaki, Zahra Chavoshzadeh, Fahimeh Abdollahimajd, Samin Sharafian, Tolue Mahdavi, Mahnaz Jamee
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Background: Inborn errors of immunity (IEIs) are monogenic diseases of the immune the system with broad clinical manifestations. Despite the increasing genetic advancements, the diagnosis of IEIs still leans on clinical diagnosis. Dermatologic manifestations are observed in a large number of IEI patients and can lead to proper approach, prompt intervention and improved prognosis. Methods: This cross-sectional study was carried out between 2018 and 2020 on IEIs at a Children's tertiary care center in Tehran, Iran. Demographic details (including age, sex, and parental consanguinity), age at onset of symptoms and family history of IEI with were recorded. Results :212 patients were included. Cutaneous findings were reported in (95 ,44.8%) patients. and 61 of 95 (64.2%) reported skin lesions as the first clinical presentation. Skin infection (69, 72.6%) was the most frequent cutaneous manifestation, followed by an eczematous rash (24, 25 %). Conclusions: Skin manifestations are common feature in IEI patients and can be readily recognizable by healthcare providers. This study tried to provide information on prognostic consequences.Keywords: primary immuno deficiency, inborn errror of metabolism, skin manifestation, skin infection
Procedia PDF Downloads 968576 The Importance of Sustainable Urban Development and Its Impacts on Turkey’s Urban Environmental Laws
Authors: Azadeh Rezafar, Sevkiye Sence Turk
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Rapid population growth in urban areas and extinction danger of natural resources in order to meet the food needs of these population, has revealed the need for sustainability. It did not last long that city planners realized the importance of an equal access to natural resources with protecting and managing them in cities, in accordance with the concept of sustainable development. Like in other countries The Turkish Government is aware of the importance of the sustainable development in their cities. The government issued new laws for protection of environmental assets and so that the preservation of natural ecology. The main objective of this article is to emphasis the importance of the sustainable development in the context of the developing world by giving special information about the method of the Turkish Government for protecting nature with approval of difference laws in this area.Keywords: population growth, sustainable development, Turkey, Turkish Urban Environmental Laws
Procedia PDF Downloads 3468575 Urbanization and Water Supply in Lagos State, Nigeria: The Challenges in a Climate Change Scenario
Authors: Amidu Owolabi Ayeni
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Studies have shown that spatio-temporal distribution and variability of climatic variables, urban land use, and population have had substantial impact on water supply. It is based on these facts that the impacts of climate, urbanization, and population on water supply in Lagos State Nigeria remain the focus of this study. Population and water production data on Lagos State between 1963 and 2006 were collected, and used for time series and projection analyses. Multi-temporal land-sat images of 1975, 1995 and NigeriaSat-1 imagery of 2007 were used for land use change analysis. The population of Lagos State increased by about 557.1% between 1963 and 2006, correspondingly, safe water supply increased by 554%. Currently, 60% of domestic water use in urban areas of Lagos State is from groundwater while 75% of rural water is from unsafe surface water. Between 1975 and 2007, urban land use increased by about 235.9%. The 46years climatic records revealed that temperature and evaporation decreased slightly while rainfall and Relatively Humidity (RH) decreased consistently. Based on these trends, the Lagos State population and required water are expected to increase to about 19.8millions and 2418.9ML/D respectively by the year 2026. Rainfall is likely to decrease by -6.68mm while temperature will increase by 0.950C by 2026. Urban land use is expected to increase by 20% with expectation of serious congestion in the suburb areas. With these results, over 50% of the urban inhabitants will be highly water poor in future if the trends continue unabated.Keywords: challenges, climate change, urbanization, water supply
Procedia PDF Downloads 4328574 Sensitivity and Specificity of Clinical Testing for Digital Nerve Injury
Authors: Guy Rubin, Ravit Shay, Nimrod Rozen
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The accuracy of a diagnostic test used to classify a patient as having disease or being disease-free is a valuable piece of information to be used by the physician when making treatment decisions. Finger laceration, suspected to have nerve injury is a challenging decision for the treating surgeon. The purpose of this study was to evaluate the sensitivity, specificity and predictive values of six clinical tests in the diagnosis of digital nerve injury. The six clinical tests included light touch, pin prick, static and dynamic 2-point discrimination, Semmes Weinstein monofilament and wrinkle test. Data comparing pre-surgery examination with post-surgery results of 42 patients with 52 digital nerve injury was evaluated. The subjective examinations, light touch, pin prick, static and dynamic 2-point discrimination and Semmes-Weinstein monofilament were not sensitive (57.6, 69.7, 42.4, 40 and 66.8% respectively) and specific (36.8, 36.8, 47.4, 42.1 and 31.6% respectively). Wrinkle test, the only objective examination, was the most sensitive (78.1%) and specific (55.6%). This result gives no pre-operative examination the ability to predict the result of explorative surgery.Keywords: digital nerve, injury, nerve examination, Semmes-Weinstein monofilamen, sensitivity, specificity, two point discrimination, wrinkle test
Procedia PDF Downloads 3458573 Distribution and Population Status of Canis spp. Threats and Conservation in Lehri Nature Park, Salt Range, District Jhelum
Authors: Muhammad Saad, AzherBaig, Anwar Maqsood, Muhammad Waseem
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The grey wolf has been ranked endangered and Asiatic jackal as near threatened in Pakistan. Scientific data on population and threats to these species are not available in Pakistan, which is required for their proper management and conservation. The present study was conducted to collect data on distribution range, population status and threats to both of these Canis species in Lehri Nature Park. The data were collected using direct observations and indirect signs in the field. The population of grey wolf and Asiatic jackal were scattered into pocket of the study area and its surroundings. The current population of grey wolf was estimated 06 individuals and that of Asiatic jackal 28 individuals in the study area. The present study showed that grey wolf and Asiatic jackal were distributed in the northern and southern part of the study area having dense vegetation cover of tress and shrub between the altitudes of 330 m and 515 m. The research finding revealed that the scrub forest is the most preferred habitat of both the species but due to anthropogenic pressure the scrub forest is under severe threat. The dominant trees species were Acacia modesta, Zizyphus nummularia, and Prosopis juliflora and shrubs species of Dodonea-viscosa, Calotropis procera and Adhatoda vasica. Urial is one of the natural prey species: their population is low due to a number of reasons and therefore the maximum dependence of the wolves was on the livestock of the local and nomadic shepherds. The main prey species in the livestock was goats and sheep. The interviews were conducted with the eye witnesses of wolf attacks including livestock being killed by 5-6 numbers of wolves in different hamlets in the study area. The killing rate of the livestock by the wolves was greater when the nomadic shepherds were present in the area and decreased when they left the area. Presence of nomadic shepherds and killing rate has relation with the shifting of the wolves from the study area. It is further concluded that the population of the grey wolf and Asiatic jackal has decreased over time due to less availability of the natural prey species and habitat destruction.Keywords: wildlife ecology, population conservation, rehabilitation, conservation
Procedia PDF Downloads 5028572 The Abnormality of Blood Cells Parasitized by Plasmodium vivax
Authors: Manas Kotepui, Kwuntida Uthaisar, Phiman Thirarattanasunthon, Bhukdee PhunPhuech, Nuoil Phiwklam
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Introduction: Malaria due to Plasmodium vivax has placed huge burdens on the health, longevity, and general prosperity of large sections of the human population. This study aimed at prospectively collecting information on the clinical profile of Plasmodium vivax from subjects acutely infected with P. vivax residing in some of the highest malaria transmission regions in Thailand. Methods: A retrospective study of malaria cases, hospitalized between 2013 and 2015 was performed. Clinical characteristics, diagnosis, and parasitological results on admission, age, and gender were mined from medical records at Phop Phra Hospital located in endemic areas of Tak Province, Thailand. Venous blood samples were collected at the time of admission to the hospital to determine the present of parasite and also parasite count by thick and thin film examination, and also Complete blood count (CBC) parameters. Results: Results showed that patients infected with Plasmodium vivax (276 cases) had a high monocyte count (mean=390 cells/µL) during initial stage of infection and continuously lower during later stage (any stage with gametocyte, mean=230 cells/µL) of infection (P value=0.021) whereas, patients infected with Plasmodium vivax had a low basophil count (mean=20 cells/µL) during initial stage of infection and continuously higher during later stage of infection (mean at stage with gametocyte=70 cells/µL) (P value=0.033). In addition, patients with more than one stage infection tend to have lower lymphocyte count (mean=1180 cells/µL) than patients with only one stage infection (mean=1350 cells/µL)(P value=0.011) whereas, patients with more than one stage infection tend to have lower basophil count (mean=60 cells/µL) than patients with only one stage infection (mean=80 cells/µL) (P value=0.01). Conclusion: This study indicated that patients infected with Plasmodium vivax had high monocyte count and low basophil count during initial stage of infection which was continuously lower during later stage of infection. Patients with more than one stage infection tend to have lower lymphocyte count than patients with only one stage infection whereas, patients with more than one stage infection tend to have lower basophil count than patients with only one stage infection. This information contributes to better understanding of pathological characteristic of Plasmodium vivax infection.Keywords: plasmodium vivax, Thailand, asexual erythrocytic stages, hematological parameters
Procedia PDF Downloads 2138571 Surgical Skills in Mulanje
Authors: Nick Toossi, Joseph Hartland
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Background: Malawi is an example of a low resource setting which faces a chronic shortage of doctors and other medical staff. This shortfall is made up for by clinical officers (COs), who are para-medicals trained for 4 years. The literature suggests to improve outcomes surgical skills training specifically should be promoted for COs in district and mission hospitals. Accordingly, the primary author was tasked with developing a basic surgical skills teaching package for COs of Mulanje Mission Hospital (MMH), Malawi, as part of a 4th year medical student External Student Selected Component field trip. MMH is a hospital based in the South of Malawi near the base of Mulanje Mountain and works in an extremely isolated environment with some of the poorest communities in the country. Traveling to Malawi the medical student author performed an educational needs assessment to develop and deliver a bespoke basic surgical skills teaching package. Methodology: An initial needs assessment identified the following domains: basic surgical skills (instrument naming & handling, knot tying, suturing principles and suturing techniques) and perineal repair. Five COs took part in a teaching package involving an interactive group simulation session, overseen by senior clinical officers and surgical trainees from the UK. Non-organic and animal models were used for simulation practice. This included the use of surgical skills boards to practice knot tying and ox tongue to simulate perineal repair. All participants spoke and read English. The impact of the session was analysed in two different ways. The first was via a pre and post Single Best Answer test and the second a questionnaire including likert’s scales and free text response questions. Results: There was a positive trend in pre and post test scores on competition of the course. There was increase in the mean confidence of learners before and after the delivery of teaching in basic surgical skills and simulated perineal repair, especially in ‘instrument naming and handling’. Whilst positively received it was discovered that learners desire more frequent surgical skills teaching sessions in order to improve and revise skills. Feedback suggests that the learners were not confident in retaining the skills without regular input. Discussion: Skills and confidence were improved as a result of the teaching provided. Learner's written feedback suggested there was an overall appetite for regular surgical skills teaching in the clinical environment and further opportunities to allow for deliberate self-practice. Surgical mentorship schemes facilitating supervised theatre time among trainees and lead surgeons along with improving access to surgical models/textbooks were some of the simple suggestions to improve surgical skills and confidence among COs. Although, this study is limited by population size it is reflective of the small, isolated and low resource environment in which this healthcare is delivered. This project does suggest that current surgical skills packages used in the UK could be adapted for employment in low resource settings, but it is consistency and sustainability that staff seek above all in their on-going education.Keywords: clinical officers, education, Malawi, surgical skills
Procedia PDF Downloads 1858570 Improving the Emergency Medicine Teaching from the Perspective of Faculty Training
Authors: Qin-Min Ge, Shu-Ming Pan
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Emergency clinicians usually get teaching qualification after graduating from medical universities without special faculty training in China mainland. Emergency departments are overcrowded places, with large numbers of patients suffering undifferentiated illness. In the field of emergency medicine (EM), improving the faculty competencies and developing the teaching skills are important for medical education, they could enhance learners outcomes and hence affect the patients prognosis indirectly. This article highlights the necessities of faculty training in EM, illustrates the qualities a good clinical educator should qualify, advances the skills as educators in an academic setting and discusses the ways to be good clinical teachers.Keywords: emergency education, competence, faculty training, teaching, emergency medicine
Procedia PDF Downloads 5968569 Traditional Medicine in Children: A Significant Cause of Morbidity and Mortality
Authors: Atitallah Sofien, Bouyahia Olfa, Romdhani Meriam, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir
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Introduction: Traditional medicine refers to a diverse range of therapeutic practices and knowledge systems that have been employed by different cultures over an extended period to uphold and rejuvenate health. These practices can involve herbal remedies, acupuncture, massage, and alternative healing methods that deviate from conventional medical approaches. In Tunisia, we often use unidentified utensils to scratch the oral cavity internally in infants in order to widen the oral cavity for better breathing and swallowing. However, these practices can be risky and may jeopardize the patients' prognosis or even their lives. Aim: This is the case of a nine-month-old infant, admitted to the pediatric department and subsequently to the intensive care unit due to a peritonsillar abscess following the utilization of an unidentifiable tool to scrape the interior of the oral cavity. Case Report: This is a 9-month-old infant with no particular medical history, admitted for high respiratory distress and a fever persisting for 4 days. On clinical examination, he had a respiratory rate of 70 cycles per minute with an oxygen saturation of 97% and subcostal retractions, along with a heart rate of 175 beats per minute. His white blood cell count was 40,960/mm³, and his C-reactive protein was 250 mg/L. Given the severity of the clinical presentation, the infant was transferred to the intensive care unit, intubated, and mechanically ventilated. A cervical-thoracic CT scan was performed, revealing a ruptured 18 mm left peritonsillar abscess in the oropharynx associated with cellulitis of the retropharyngeal space. The oto-rhino-laryngoscopic examination revealed an asymmetry involving the left lateral wall of the oropharynx with the presence of a fistula behind the posterior pillar. Dissection of the collection cavity was performed, allowing the drainage of 2 ml of pus. The culture was negative. The patient received cefotaxime in combination with metronidazole and gentamicin for a duration of 10 days, followed by a switch to amoxicillin-clavulanic acid for 7 days. The patient was extubated after 4 days of treatment, and the clinical and radiological progress was favorable. Conclusions: Traditional medicine remains risky due to the lack of scientific evidence and the potential for injuries and transmission of infectious diseases, especially in children, who constitute a vulnerable population. Therefore, parents should consult healthcare professionals and rely on evidence-based care.Keywords: children, peritonsillar abscess, traditional medicine, respiratory distress
Procedia PDF Downloads 648568 Study on the Knowledge, Attitude and Practice (KAP) of Patients with Hypertension in Aseer Hospital, Asir Region, Saudi Arabia
Authors: Ayesha Siddiqua
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Background: Hypertension is a silent killer disease and a common risk factor for considerable morbidity and mortality. Its effects can be seen on the organs like Heart; Brain; Kidneys. In Saudi Arabia, hypertension affects a sizeable enough proportion of the population, with a prevalence of 27.9% in urban and 22.4 in rural population. Despite these features, the magnitude and epidemiological characteristics of this disease have been rarely studied in Saudi Arabia. To fill this gap, we conducted a survey in Abha to study the KAP of hypertension. KAP study shows what people know about certain things, their feelings and behavior towards the disease management. An improvement in the Knowledge and Attitudes towards disease management can reform the kinds of practices which are followed. Objectives: To assess the level of Knowledge, Attitude and Practice of patients who suffer from Hypertension. To improve the Quality of life of patients. Methods: A prospective cross-sectional survey was conducted on a sample size of 130 Hypertensive patients of both the genders enrolled by simple random sampling technique admitted in the Aseer Central Hospital of Abha during the period from October 2016 to December 2016. Results: Altogether 130 hypertensive patients were enrolled in this study with equal no. of Males and Females. Most of the respondents were aged between 18-40 years (45%). On assessing the KAP of the patients, we found that the Knowledge and Attitude score was good but the Practice scores were moderate in both the genders. Conclusion: Our study concludes that a significant proportion of hypertensive patients show less Practice towards the disease management which can lead to severe complications in time being and also result in damage of other vital organs. So there is a need of intense educational intervention for the patients which can be done by Patient counselling by the clinical pharmacist. Strategies to modify lifestyle which help in control of hypertension can include providing leaflets as well as direct educational programs.Keywords: Attitude, hypertension, Knowledge, practices
Procedia PDF Downloads 3508567 Polymorphism of Candidate Genes for Meat Production in Lori Sheep
Authors: Shahram Nanekarania, Majid Goodarzia
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Calpastatin and callipyge have been known as one of the candidate genes in meat quality and quantity. Calpastatin gene has been located to chromosome 5 of sheep and callipyge gene has been localized in the telomeric region on ovine chromosome 18. The objective of this study was identification of calpastatin and callipyge genes polymorphism and analysis of genotype structure in population of Lori sheep kept in Iran. Blood samples were taken from 120 Lori sheep breed and genomic DNA was extracted by salting out method. Polymorphism was identified using the PCR-RFLP technique. The PCR products were digested with MspI and FaqI restriction enzymes for calpastatin gene and callipyge gene, respectively. In this population, three patterns were observed and AA, AB, BB genotype have been identified with the 0.32, 0.63, 0.05 frequencies for calpastatin gene. The results obtained for the callipyge gene revealed that only the wild-type allele A was observed, indicating that only genotype AA was present in the population under consideration.Keywords: polymorphism, calpastatin, callipyge, PCR-RFLP, Lori sheep
Procedia PDF Downloads 6168566 The Relationship between Anthropometric Obesity Indices and Insulin in Children with Metabolic Syndrome
Authors: Mustafa M. Donma, Orkide Donma
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The number of indices developed for the evaluation of obesity both in adults and pediatric population is ever increasing. These indices are also used in cases with metabolic syndrome (MetS), mostly the ultimate form of morbid obesity. Aside from anthropometric measurements, formulas constituted using these parameters also find clinical use. These formulas can be listed as two groups; being weight-dependent and –independent. Some are extremely sophisticated equations and their clinical utility is questionable in routine clinical practice. The aim of this study is to compare presently available obesity indices and find the most practical one. Their associations with MetS components were also investigated to determine their capacities in differential diagnosis of morbid obesity with and without MetS. Children with normal body mass index (N-BMI) and morbid obesity were recruited for this study. Three groups were constituted. Age- and sex- dependent BMI percentiles for morbid obese (MO) children were above 99 according to World Health Organization tables. Of them, those with MetS findings were evaluated as MetS group. Children, whose values were between 85 and 15 were included in N-BMI group. The study protocol was approved by the Ethics Committee of the Institution. Parents filled out informed consent forms to participate in the study. Anthropometric measurements and blood pressure values were recorded. Body mass index, hip index (HI), conicity index (CI), triponderal mass index (TPMI), body adiposity index (BAI), body shape index (ABSI), body roundness index (BRI), abdominal volume index (AVI), waist-to-hip ratio (WHR) and waist circumference+hip circumference/2 ((WC+HC)/2) were the formulas examined within the scope of this study. Routine biochemical tests including fasting blood glucose (FBG), insulin (INS), triglycerides (TRG), high density lipoprotein-cholesterol (HDL-C) were performed. Statistical package program SPSS was used for the evaluation of study data. p<0.05 was accepted as the statistical significance degree. Hip index did not differ among the groups. A statistically significant difference was noted between N-BMI and MetS groups in terms of ABSI. All the other indices were capable of making discrimination between N-BMI-MO, N-BMI- MetS and MO-MetS groups. No correlation was found between FBG and any obesity indices in any groups. The same was true for INS in N-BMI group. Insulin was correlated with BAI, TPMI, CI, BRI, AVI and (WC+HC)/2 in MO group without MetS findings. In MetS group, the only index, which was correlated with INS was (WC+HC)/2. These findings have pointed out that complicated formulas may not be required for the evaluation of the alterations among N-BMI and various obesity groups including MetS. The simple easily computable weight-independent index, (WC+HC)/2, was unique, because it was the only index, which exhibits a valuable association with INS in MetS group. It did not exhibit any correlation with other obesity indices showing associations with INS in MO group. It was concluded that (WC+HC)/2 was pretty valuable practicable index for the discrimination of MO children with and without MetS findings.Keywords: children, insulin, metabolic syndrome, obesity indices
Procedia PDF Downloads 788565 Oral Examination: An Important Adjunct to the Diagnosis of Dermatological Disorders
Authors: Sanjay Saraf
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The oral cavity can be the site for early manifestations of mucocutaneous disorders (MD) or the only site for occurrence of these disorders. It can also exhibit oral lesions with simultaneous associated skin lesions. The MD involving the oral mucosa commonly presents with signs such as ulcers, vesicles and bullae. The unique environment of the oral cavity may modify these signs of the disease, thereby making the clinical diagnosis an arduous task. In addition to the unique environment of oral cavity, the overlapping of the signs of various mucocutaneous disorders, also makes the clinical diagnosis more intricate. The aim of this review is to present the oral signs of dermatological disorders having common oral involvement and emphasize their importance in early detection of the systemic disorders. The aim is also to highlight the necessity of oral examination by a dermatologist while examining the skin lesions. Prior to the oral examination, it must be imperative for the dermatologists and the dental clinicians to have the knowledge of oral anatomy. It is also important to know the impact of various diseases on oral mucosa, and the characteristic features of various oral mucocutaneous lesions. An initial clinical oral examination is may help in the early diagnosis of the MD. Failure to identify the oral manifestations may reduce the likelihood of early treatment and lead to more serious problems. This paper reviews the oral manifestations of immune mediated dermatological disorders with common oral manifestations.Keywords: dermatological investigations, genodermatosis, histological features, oral examination
Procedia PDF Downloads 3588564 Correlation Study between Clinical and Radiological Findings in Knee Osteoarthritis
Authors: Nabil A. A. Mohamed, Alaa A. A. Balbaa, Khaled E. Ayad
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Osteoarthritis (OA) of the knee is the most common form of arthritis and leads to more activity limitations (e.g., disability in walking and stair climbing) than any other disease, especially in the elderly. Recently, impaired proprioceptive accuracy of the knee has been proposed as a local factor in the onset and progression of radiographic knee OA (ROA). Purpose: To compare the clinical and radiological findings in healthy with that of knee OA. Also, to determine if there is a correlation between the clinical and radiological findings in patients with knee OA. Subjects: Fifty one patients diagnosed as unilateral or bilateral knee OA with age ranged between 35-70 years, from both gender without any previous history of knee trauma or surgery, and twenty one normal subjects with age ranged from 35 - 68 years. METHODS: peak torque/body weight (PT/BW) was recorded from knee extensors at isokinetic isometric mode at angle of 45 degree. Also, the Absolute Angular Error was recorded at 45O and 30O to measure joint position sense (JPS). They made anteroposterior (AP) plain X-rays from standing semiflexed knee position and their average score of Timed Up and Go test(TUG) and WOMAC were recorded as a measure of knee pain, stiffness and function. Comparison between the mean values of different variables in the two groups was performed using unpaired student t test. The P value less or equal to 0.05 was considered significant. Results: There were significant differences between the studied variables between the experimental and control groups except the values of AAE at 30O. Also, there were no significant correlation between the clinical findings (pain, function, muscle strength and proprioception) and the severity of arthritic changes in X-rays. CONCLUSION: From the finding of the current study we can conclude that there were a significant difference between the both groups in all studied parameters (the WOMAC, functional level, quadriceps muscle strength and the joint proprioception). Also this study did not support the dependency on radiological findings in management of knee OA as the radiological features did not necessarily indicate the level of structural damage of patients with knee OA and we should consider the clinical features in our treatment plan.Keywords: joint position sense, peak torque, proprioception, radiological knee osteoarthritis
Procedia PDF Downloads 3028563 Physics Informed Deep Residual Networks Based Type-A Aortic Dissection Prediction
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Purpose: Acute Type A aortic dissection is a well-known cause of extremely high mortality rate. A highly accurate and cost-effective non-invasive predictor is critically needed so that the patient can be treated at earlier stage. Although various CFD approaches have been tried to establish some prediction frameworks, they are sensitive to uncertainty in both image segmentation and boundary conditions. Tedious pre-processing and demanding calibration procedures requirement further compound the issue, thus hampering their clinical applicability. Using the latest physics informed deep learning methods to establish an accurate and cost-effective predictor framework are amongst the main goals for a better Type A aortic dissection treatment. Methods: Via training a novel physics-informed deep residual network, with non-invasive 4D MRI displacement vectors as inputs, the trained model can cost-effectively calculate all these biomarkers: aortic blood pressure, WSS, and OSI, which are used to predict potential type A aortic dissection to avoid the high mortality events down the road. Results: The proposed deep learning method has been successfully trained and tested with both synthetic 3D aneurysm dataset and a clinical dataset in the aortic dissection context using Google colab environment. In both cases, the model has generated aortic blood pressure, WSS, and OSI results matching the expected patient’s health status. Conclusion: The proposed novel physics-informed deep residual network shows great potential to create a cost-effective, non-invasive predictor framework. Additional physics-based de-noising algorithm will be added to make the model more robust to clinical data noises. Further studies will be conducted in collaboration with big institutions such as Cleveland Clinic with more clinical samples to further improve the model’s clinical applicability.Keywords: type-a aortic dissection, deep residual networks, blood flow modeling, data-driven modeling, non-invasive diagnostics, deep learning, artificial intelligence.
Procedia PDF Downloads 908562 Development of National Guidelines for Conducting Research and Development of Herbal Medicine in Thailand According to International Standards
Authors: Patcharaporn Sudchada, Nuntika Prommee
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Background: Herbal medicines constitute a vital component of Thailand's healthcare system and possess significant potential for international recognition. However, the absence of standardized clinical research guidelines aligned with international standards, coupled with unique local challenges, has hindered the development and registration of Thai herbal medicines in the global market. Objective: To establish comprehensive research and development guidelines for herbal medicine formulations that comply with international standards, with particular emphasis on enhancing research quality, scientific credibility, and facilitating both domestic registration and international market acceptance. Methods: The research methodology comprised eight sequential phases: (1) systematic collection and review of relevant documentation and regulatory frameworks; (2) development of preliminary content structure and template designs; (3) systematic analysis and synthesis of scientific evidence and regulatory data; (4) creation of detailed research guidelines and accompanying templates; (5) execution of domestic and international consultation meetings and study visits involving nine stakeholder groups; (6) systematic expert review of the draft guidelines; (7) incorporation of feedback from relevant regulatory and research agencies; and (8) finalization and validation of the comprehensive guidelines. Results: The study produced comprehensive research and development guidelines for herbal medicines that meet international standards, encompassing the complete development pathway from initial concept through pre-clinical studies, product development, preparation protocols, clinical trial conduct, and product registration procedures. The guidelines include standardized templates and forms specifically designed for clinical research documentation. Conclusion: The established guidelines represent a significant advancement in standardizing clinical research for Thai herbal medicines, enhancing their scientific credibility and potential for international acceptance. Nevertheless, Thailand continues to face specific challenges, including insufficient specialized personnel in herbal research (particularly in clinical trials), challenges in integrating traditional Thai medicine principles with modern scientific methodology, limited research infrastructure, inadequate funding mechanisms, complex registration procedures, and public skepticism toward herbal products. The policy recommendations outlined in this research provide a strategic framework for addressing these challenges and promoting sustainable development of Thai herbal medicines within the national context.Keywords: herbal medicine, clinical research, international standards, research guidelines, drug development, traditional thai medicine, regulatory compliance
Procedia PDF Downloads 88561 A Stepped Care mHealth-Based Approach for Obesity with Type 2 Diabetes in Clinical Health Psychology
Authors: Gianluca Castelnuovo, Giada Pietrabissa, Gian Mauro Manzoni, Margherita Novelli, Emanuele Maria Giusti, Roberto Cattivelli, Enrico Molinari
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Diabesity could be defined as a new global epidemic of obesity and being overweight with many complications and chronic conditions. Such conditions include not only type 2 diabetes, but also cardiovascular diseases, hypertension, dyslipidemia, hypercholesterolemia, cancer, and various psychosocial and psychopathological disorders. The financial direct and indirect burden (considering also the clinical resources involved and the loss of productivity) is a real challenge in many Western health-care systems. Recently the Lancet journal defined diabetes as a 21st-century challenge. In order to promote patient compliance in diabesity treatment reducing costs, evidence-based interventions to improve weight-loss, maintain a healthy weight, and reduce related comorbidities combine different treatment approaches: dietetic, nutritional, physical, behavioral, psychological, and, in some situations, pharmacological and surgical. Moreover, new technologies can provide useful solutions in this multidisciplinary approach, above all in maintaining long-term compliance and adherence in order to ensure clinical efficacy. Psychological therapies with diet and exercise plans could better help patients in achieving weight loss outcomes, both inside hospitals and clinical centers and during out-patient follow-up sessions. In the management of chronic diseases clinical psychology play a key role due to the need of working on psychological conditions of patients, their families and their caregivers. mHealth approach could overcome limitations linked with the traditional, restricted and highly expensive in-patient treatment of many chronic pathologies: one of the best up-to-date application is the management of obesity with type 2 diabetes, where mHealth solutions can provide remote opportunities for enhancing weight reduction and reducing complications from clinical, organizational and economic perspectives. A stepped care mHealth-based approach is an interesting perspective in chronic care management of obesity with type 2 diabetes. One promising future direction could be treating obesity, considered as a chronic multifactorial disease, using a stepped-care approach: -mhealth or traditional based lifestyle psychoeducational and nutritional approach. -health professionals-driven multidisciplinary protocols tailored for each patient. -inpatient approach with the inclusion of drug therapies and other multidisciplinary treatments. -bariatric surgery with psychological and medical follow-up In the chronic care management of globesity mhealth solutions cannot substitute traditional approaches, but they can supplement some steps in clinical psychology and medicine both for obesity prevention and for weight loss management.Keywords: clinical health psychology, mhealth, obesity, type 2 diabetes, stepped care, chronic care management
Procedia PDF Downloads 3458560 Ophthalmic Ultrasound in the Diagnosis of Retinoblastoma
Authors: Abdulrahman Algaeed
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The Ophthalmic Ultrasound is the easiest method of early diagnosing Retinoblastoma after clinical examination. It can be done with ease without sedation. King Khaled Eye Specialist Hospital is a tertiary care center where Retinoblastoma patients are often seen and treated there. The first modality to rule out the disease is Ophthalmic Ultrasound. Classic Retinoblastoma is easily diagnosed by using the conventional 10MHz Ophthalmic Ultrasound probe in the regular clinic setup. Retinal lesion with multiple, very highly reflective surfaces within lesion typical of Calcium deposits. The use of Standardized A-scan is very useful where internal reflectivity is classified as very highly reflective. Color Doppler is extremely useful as well to show the blood flow within lesion/s. In conclusion: Ophthalmic Ultrasound should be the first tool to be used to diagnose Retinoblastoma after clinical examination. The accuracy of the Exam is very high.Keywords: doppler, retinoblastoma, reflectivity, ultrasound
Procedia PDF Downloads 1138559 Application of Latent Class Analysis and Self-Organizing Maps for the Prediction of Treatment Outcomes for Chronic Fatigue Syndrome
Authors: Ben Clapperton, Daniel Stahl, Kimberley Goldsmith, Trudie Chalder
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Chronic fatigue syndrome (CFS) is a condition characterised by chronic disabling fatigue and other symptoms that currently can't be explained by any underlying medical condition. Although clinical trials support the effectiveness of cognitive behaviour therapy (CBT), the success rate for individual patients is modest. Patients vary in their response and little is known which factors predict or moderate treatment outcomes. The aim of the project is to develop a prediction model from baseline characteristics of patients, such as demographics, clinical and psychological variables, which may predict likely treatment outcome and provide guidance for clinical decision making and help clinicians to recommend the best treatment. The project is aimed at identifying subgroups of patients with similar baseline characteristics that are predictive of treatment effects using modern cluster analyses and data mining machine learning algorithms. The characteristics of these groups will then be used to inform the types of individuals who benefit from a specific treatment. In addition, results will provide a better understanding of for whom the treatment works. The suitability of different clustering methods to identify subgroups and their response to different treatments of CFS patients is compared.Keywords: chronic fatigue syndrome, latent class analysis, prediction modelling, self-organizing maps
Procedia PDF Downloads 2268558 Update on Genetic Diversity for Lamotrigine Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis
Authors: Natida Thongsima, Patompong Satapornpong
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Introduction: Lamotrigine is widely used in the treatment of epilepsy and bipolar disorder. However, lamotrigine leads to adverse drug reactions (ADRs) consist of severe cutaneous adverse reactions (SCARs) include Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and drug rash with eosinophilia and systemic symptoms (DRESS). Moreover, lamotrigine-induced SCARs are usually manifested between 2 and 8 weeks after treatment initiation. According to a previous study, the association between HLA-B*15:02 and lamotrigine-induced cutaneous adverse drug reactions in the Thai population (odds ratio 4.89; 95% CI 1.28–18.66; p-value = 0.014) was found. Therefore, the distribution of pharmacogenetics markers a major role in predicting the culprit drugs for SCARs in many populations. Objective: In this study, we want to investigate the prevalence of HLA-B allele, which correlates with lamotrigine-induced SCARs in the healthy Thai population. Materials and Methods: We enrolled 350 healthy Thai individuals and were approved by the ethics committee of Rangsit University. HLA-B alleles were genotyped by the Lifecodes HLA SSO typing kits (Immucor, West Avenue, Stamford, USA). Results: The results presented HLA-B allele frequency in healthy Thai population were 14.71% (HLA-B*46:01), 8.57% (HLA-B*15:02), 6.71% (HLA-B*40:01), 5.86% (HLA-B*13:01), 5.71% (HLA-B*58:01), 5.14% (HLA-B*38:02), 4.86% (HLA-B*18:01), 4.86% (HLA-B*51:01), 3.86% (HLA-B*44:03) and 2.71% (HLA-B*07:05). Especially, HLA-B*15:02 allele was the high frequency in the Thais (8.57%), Han Chinese (7.30%), Vietnamese (13.50%), Malaysian (6.06%) and Indonesian (11.60%). Nevertheless, this allele was much lower in other populations, namely, Africans, Caucasians, and Japanese. Conclusions: Although the sample size of the healthy Thai population in this research was limited, there were found the frequency of the HLA-B*15:02 allele could predispose them toward to lamotrigine-induced SCARs in Thailand.Keywords: lamotrigine, cutaneous adverse drug reactions, HLA-B, Thai population
Procedia PDF Downloads 1938557 Magnetic Resonance Imaging in Cochlear Implant Patients without Magnet Removal: A Safe and Effective Workflow Management Program
Authors: Yunhe Chen, Xinyun Liu, Qian Wang, Jianan Li
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Background Cochlear implants (CIs) are currently the primary effective treatment for severe or profound sensorineural hearing loss. As China's population ages and the number of young children rises, the demand for MRI for CI patients is expected to increase. Methods Reviewed MRI cases of 25 CI patients between 2015 and 2024, assessed imaging auditory outcomes and adverse reactions. Use the adverse event record sheet and accompanying medication sheet to record follow-up measures. Results Most CI patients undergoing MRI may face risks such as artifacts, pain, redness, swelling, tissue damage, bleeding, and magnet displacement or demagnetization. Twenty-five CI patients in our hospital were reviewed. Seven patient underwent 3.0 T MR, the others underwent 1.5 T MR. The manufacturers are 18 cases in Austria, 5 cases in Australia and 2 cases in Nurotron. Among them, one patient with bilateral CI underwent 1.5 T MR examination after head pressure bandaging, and the left magnet was displaced (CI24RE Series, Australia). This patient underwent surgical replacement of the magnet under general anesthesia. Six days after the operation, the patient's feedback indicated that the performance of the cochlear implant was consistent with the previous results following the reactivation of the external device. Based on the experience of our hospital, we proposed the feasible management scheme of MRI examination procedure for CI patients. This plan should include a module for confirming MRI imaging parameters, informed consent, educational materials for patients, and other safety measures to ensure that patients receive imaging results safely and effectively, implify clinical. Conclusion As indications for both MRI and cochlear implantation expand,the number of MRI studies recommended for patients with cochlear implants will also increase. The process and management scheme proposed in this study can help to obtain imaging results safely and effectively, and reduce clinical stress.Keywords: cochlear implantation, MRI, magnet, displacement
Procedia PDF Downloads 158556 Antibiotic Treatment of Apical Periodontitis
Authors: Ilma Robo, Saimir Heta, Gerhard Nokaj
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Introduction: The method of treatment and the treatment protocols of apical periodontitis are now known, but the ongoing debate remains on whether or not prescription antibiotics should be given to patients suffering from this type of pathology. In fact, as an indication for prescribing antibiotics, this type of pathology remains between clinical indication and contraindication. Material and Methods: This article is of the short-communication type and has the sole purpose of analyzing the clinical picture of apical periodontitis and the fact that the appearance and extent of this pathology in the periapex area passes the stage when the host or the immune cells of the organism of the affected individual, react against bacterial factors. Results: Determining whether or not to prescribe systemic antibiotics according to literature sources can be avoided. In some cases, research in this field about this pathology even indicates endodontic rinsers or irrigants, such as chlorhexidine, in typical cases, mainly in persistent apical periodontitis. Conclusions: In times when bacterial resistance is a hot topic in some fields of scientific research, it is important to divide dental pathologies of bacterial origin into those when systemic antibiotic prescriptions must be given and those when every clinical issue is resolved only with endodontic root canal treatment. Even certain sources of published literature show the specifics of the most effective antibiotics against the bacterial flora causing the pathology of apical periodontitis.Keywords: endodontic treatment, apical periodontitis, antibiotics, chlorhexidine
Procedia PDF Downloads 738555 Genetic Structure of Four Bovine Populations in the Philippines Using Microsatellites
Authors: Peter James C. Icalia, Agapita J. Salces, Loida Valenzuela, Kangseok Seo, Geronima Ludan
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This study evaluated polymorphism of 11 microsatellite markers in four local genetic groups of cattle. Batanes cattle which has never been studied using microsatellites is evaluated for its genetic distance from the Ilocos cattle while Brahman and Holstein-Sahiwal are also included as there were insemination programs by the government using these two breeds. PCR products that were genotyped for each marker were analyzed using POPGENEv32. Results showed that 55% (Fst=0.5501) of the genetic variation is due to the differences between populations while the remaining 45% is due to individual variation. The Fst value also indicates that there were very great differences from population to population using the range proposed by Sewall and Wright. The constructed phylogenetic tree based on Nei’s genetic distance using the modified neighboor joining procedure of PHYLIPv3.5 showed the admixture of Brahman and Holstein-Sahiwal having them grouped in the same clade. Batanes and Ilocos cattle were grouped in a different cluster showing that they have descended from a single parental population. This would presumably address the claim that Batanes and Ilocos cattle are genetically distant from other groups and still exist despite the artificial insemination program of the government using Brahman and other imported breeds. The knowledge about the genetic structure of this population supports the development of conservation programs for the smallholder farmers.Keywords: microsatellites, cattle, Philippines, populations, genetic structure
Procedia PDF Downloads 5178554 Analysis of Mutation Associated with Male Infertility in Patients and Healthy Males in the Russian Population
Authors: Svetlana Zhikrivetskaya, Nataliya Shirokova, Roman Bikanov, Elizaveta Musatova, Yana Kovaleva, Nataliya Vetrova, Ekaterina Pomerantseva
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Nowadays there is a growing number of couples with conceiving problems due to male or female infertility. Genetic abnormalities are responsible for about 31% of all cases of male infertility. These abnormalities include both chromosomal aberrations or aneuploidies and mutations in certain genes. Chromosomal abnormalities can be easily identified, thus the development of screening panels able to reveal genetic reasons of male infertility on gene level is of current interest. There are approximately 2,000 genes involved in male fertility that is the reason why it is very important to determine the most clinically relevant in certain population and ethnic conditions. An infertility screening panel containing 48 mutations in genes AMHR2, CFTR, DNAI1, HFE, KAL1, TSSK2 and AZF locus which are the most clinically relevant for the European population according to databases NCBI and ClinVar was designed. The aim of this research was to confirm clinic relevance of these mutations in the Russian population. Genotyping was performed in 220 patients with different types of male infertility and in 57 healthy males with normozoospermia. Mutations were identified by end-point PCR with TaqMan probes in microfluidic plates. The frequency of 5 mutations in healthy males and 13 mutations in patients with infertility was revealed and estimated. The frequency of mutation c.187C>G in HFE gene was significantly lower for healthy males (8.8%) compared with patients (17.7%) and the values for the European population according to ExAc database (13.7%) and dbSNP (17.2%). Analysis of c.3454G>C, and c.1545_1546delTA mutations in the CFTR gene revealed increased frequency (0.9 and 0.2%, respectively) in patients with infertility compared with data for the European population (0.04%, respectively (ExAc, European (Non-Finnish) and for the Aggregated Populations (0.002% (ExAc), because there is no data for European population for c.1545_1546delTA mutation. The frequency of del508 mutation (CFTR) in patients (1.59%) were lower comparing with male infertility Europeans (3.34-6.25% depending on nationality) and at the same level with healthy Europeans (1.06%, ExAc, European (Non-Finnish). Analysis of c.845G>A (HFE) mutation resulted in decreased frequency in patients (1.8%) in contrast with the European population data (5.1%, respectively, ExAc, European (Non-Finnish). Moreover, obtained data revealed no statistically significant frequency difference for c.845G>A mutation (HFE) between healthy males in the Russian and the European populations. Allele frequencies of mutations c.350G>A (CFTR), c.193A>T (HFE), c.774C>T, and c.80A>G (gene TSSK2) showed no significantly difference among patients with infertility, healthy males and Europeans. Analysis of AZF locus revealed increased frequency for AZFc microdeletion in patients with male infertility. Thereby, the new data of the allele frequencies in infertility patients in the Russian population was obtained. As well as the frequency differences of mutations associated with male infertility among patients, healthy males in the Russian population and the European one were estimated. The revealed differences showed that for high effectiveness of screening panel detecting genetically caused male infertility it is very important to consider ethnic and population characteristics of patients which will be screened.Keywords: allele frequency, azoospermia, male infertility, mutation, population
Procedia PDF Downloads 3928553 A Clinical Cutoff to Identify Metabolically Unhealthy Obese and Normal-Weight Phenotype in Young Adults
Authors: Lívia Pinheiro Carvalho, Luciana Di Thommazo-Luporini, Rafael Luís Luporini, José Carlos Bonjorno Junior, Renata Pedrolongo Basso Vanelli, Manoel Carneiro de Oliveira Junior, Rodolfo de Paula Vieira, Renata Trimer, Renata G. Mendes, Mylène Aubertin-Leheudre, Audrey Borghi-Silva
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Rationale: Cardiorespiratory fitness (CRF) and functional capacity in young obese and normal-weight people are associated with metabolic and cardiovascular diseases and mortality. However, it remains unclear whether their metabolically healthy (MH) or at risk (AR) phenotype influences cardiorespiratory fitness in this vulnerable population such as obese adults but also in normal-weight people. HOMA insulin resistance index (HI) and leptin-adiponectin ratio (LA) are strong markers for characterizing those phenotypes that we hypothesized to be associated with physical fitness. We also hypothesized that an easy and feasible exercise test could identify a subpopulation at risk to develop metabolic and related disorders. Methods: Thirty-nine sedentary men and women (20-45y; 18.5Keywords: aerobic capacity, exercise, fitness, metabolism, obesity, 6MST
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