Search results for: medical biology and genetics

Authors: Mark Archei O. Javier

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The Fourth Industrial Revolution (FIR) is a major industrial era characterized by the fusion of technologies that is blurring the lines between the physical, digital, and biological spheres. Since this era teaches us how to thrive in the fast-paced developing world, it is important to be able to adapt. With this, there is a need to make learning and teaching in the bioscience laboratory more challenging and engaging. The goal of the research is to find out if using in silico and in vitro laboratory activities compared to the conventional conduct laboratory activities would have positive impacts on the academic performance of the learners. The potential contribution of the research is that it would improve the teachers’ methods in delivering the content to the students when it comes to topics that need laboratory activities. This study will develop a method by which teachers can provide learning materials to the students. A one-tailed t-Test for independent samples was used to determine the significant difference in the pre- and post-test scores of students. The tests of hypotheses were done at a 0.05 level of significance. Based on the results of the study, the gain scores of the experimental group are greater than the gain scores of the control group. This implies that using in silico and in vitro labs for the experimental group is more effective than the conventional method of doing laboratory activities.

Keywords: academic performance, general biology, in silico laboratory, in vivo laboratory, virtual laboratory

Procedia PDF Downloads 188

Authors: Rafaella Nogaroli

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It is presented hypothetical cases in the context of AI algorithms to support clinical decisions, in order to discuss the importance of doctors to respect AI ethical principles. Regarding the principle of transparency and explanation, there is an impact on the new model of patient consent and on the understanding of qualified information. Besides, the human control of technology (AI as a tool) should guide the physician's activity; otherwise, he breaks the patient's legitimate expectation in a specific result, with the consequent transformation of the medical obligation nature.

Keywords: medical law, artificial intelligence, ethical principles, patient´s informed consent, medical obligations

Procedia PDF Downloads 95

Authors: Marjan Mahdavi-Roshan, Arsalan Salari, Mahbobeh Gholipour

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Hypertension is one of the important reasons of morbidity and mortality in countries, including Iran. It has been shown that hypertension is a consequence of the interaction of genetics and environment. Nutrients have important roles in the controlling of blood pressure. We assessed dietary habit and anthropometric status in patients with hypertension in the north of Iran, and that have special dietary habit and according to their culture. This study was conducted on 127 patients with newly recognized hypertension and the 120 normotensive participants. Anthropometric status was measured and demographic characteristics, and medical condition were collected by valid questionnaires and dietary habit assessment was assessed with 3-day food recall (two weekdays and one weekend). The mean age of participants was 58 ± 6.7 years. The mean level of energy intake, saturated fat, vitamin D, potassium, zinc, dietary fiber, vitamin C, calcium, phosphorus, copper and magnesium was significantly lower in the hypertensive group compared to the control (p < 0.05). After adjusting for energy intake, positive association was observe between hypertension and some dietary nutrients including; Cholesterol [OR: 1.1, P: 0.001, B: 0.06], fiber [OR: 1.6, P: 0.001, B: 1.8], vitamin D [OR: 2.6, P: 0.006, B: 0.9] and zinc [OR: 1.4, P: 0.006, B: 0.3] intake. Logistic regression analysis showed that there was not significant association between hypertension, weight and waist circumference. In our study, the mean intake of some nutrients was lower in the hypertensive individuals compared to the normotensive individual. Health training about suitable dietary habits and easier access to vitamin D supplementation in patients with hypertension are cost-effective tools to improve outcomes in Iran.

Keywords: hypertension, north of Iran, dietary intake, weight

Procedia PDF Downloads 176

Authors: Nasrudin Andi Mappaware, Muh. Wirawan Harahap, Erlin Syahril, Farah Ekawati Mulyadi

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The increasing trend of cesarean sections, especially those performed on self-request without medical indications, presents complex dilemmas related to medical aspects, professionalism, and bioethics. This study aims to investigate the medical, professional, and bioethical considerations surrounding anesthesia in cesarean sections performed on self-request without medical indications. We report the case of a 27-year-old woman, G1P0A0 gravid 38 weeks, admitted to the hospital for a planned cesarean section on request for the reason that she could not tolerate pain and requested on a date that corresponded to the date and month of her mother's birth. Cesarean section on patient request fulfills the principle of autonomy, which states that patients have the right to themselves. However, this medical procedure is still considered no safer and riskier even though medical technology has developed rapidly. Furthermore, anesthesia during cesarean section at self-request without medical indications is a dilemma for anesthesiologists considering the risks and complications of anesthesia for both the fetus and the mother. The trend in increasing the number of cesarean sections is influenced by patient reasons such as not being able to tolerate pain, trust factors, and worry about damage to the birth canal.

Keywords: anesthesia, bioethics, cesarean section, self-request, professionalism

Procedia PDF Downloads 42

Authors: Gayani Ranawake

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Effective communication is widely regarded as an important aspect of any discipline. This particular study deals with written communication in science. Writing conventions and linguistic choices play a key role in conveying the message effectively to a target audience. Scientists are responsible for conveying their findings or research results not only to their discourse community but also to the general public. Recognizing appropriate linguistic choices is crucial since they vary depending on the target audience. The majority of scientists can communicate effectively with their discourse community, but public engagement seems more challenging to them. There is a lack of research into the language use of scientists, and in particular how it varies by discipline and audience (genre). A better understanding of the different linguistic conventions used in effective science writing by scientists for scientists and by scientists for the public will help to guide scientists who are familiar with their discourse community norms to write effectively for the public. This study investigates the differences and similarities of linguistic choices in biology articles written by scientists for their discourse community and biology magazine articles written by scientists and science communicators for the general public. This study is a part of a larger project investigating linguistic differences in different genres of science academic writing. The sample for this particular study is composed of 20 research articles from the journal Biological Reviews and 20 magazine articles from the magazine Australian Popular Science. Differences in the linguistic devices were analyzed using Hyland’s metadiscourse model for academic writing proposed in 2005. The frequency of the usage of interactive resources (transitions, frame markers, endophoric markers, evidentials and code glosses) and interactional resources (hedges, boosters, attitude markers, self-mentions and engagement markers) were compared and contrasted using the NVivo textual analysis tool. The results clearly show the differences in the frequency of usage of interactional and interactive resources in the two disciplines under investigation. The findings of this study provide a reference guide for scientists and science writers to understand the differences in the linguistic choices between the two genres. This will be particularly helpful for scientists who are proficient at writing for their discourse community, but not for the public.

Keywords: discourse analysis, linguistic choices, metadiscourse, science writing

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Authors: Manik Sharma, Ganapathy Krishnamurthi

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The cost of some drugs and medical treatments has risen in recent years, that many patients are having to go without. A classification project could make researchers more efficient. One of the more surprising reasons behind the cost is how long it takes to bring new treatments to market. Despite improvements in technology and science, research and development continues to lag. In fact, finding new treatment takes, on average, more than 10 years and costs hundreds of millions of dollars. If successful, we could dramatically improve the industry's ability to model cellular images according to their relevant biology. In turn, greatly decreasing the cost of treatments and ensure these treatments get to patients faster. This work aims at solving a part of this problem by creating a cellular image classification model which can decipher the genetic perturbations in cell (occurring naturally or artificially). Another interesting question addressed is what makes the deep-learning model decide in a particular fashion, which can further help in demystifying the mechanism of action of certain perturbations and paves a way towards the explainability of the deep-learning model.

Keywords: cellular images, genetic perturbations, deep-learning, explainability

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Authors: Marthese Azzopardi, Liberato Camilleri

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This research was performed to investigate the study habits and level of difficulty perceived by post-secondary students in Biology at Advanced-level topics after completing their first year of study. At the end of a two-year ‘sixth form’ course, Maltese students sit for the Matriculation and Secondary Education Certificate (MATSEC) Advanced-level biology exam as a requirement to pursue science-related studies at the University of Malta. The sample was composed of 23 students (16 taking Chemistry and seven taking some ‘Other’ subject at the Advanced Level). The cohort comprised seven males and 16 females. A questionnaire constructed by the authors, was answered anonymously during the last lecture at the end of the first year of study, in May 2016. The Chi square test revealed that gender plays no effect on the various study habits (c² (6) = 5.873, p = 0.438). ‘Reading both notes and textbooks’ was the most common method adopted by males (71.4%), whereas ‘Writing notes on each topic’ was that mostly used by females (81.3%). The Mann-Whitney U test showed no significant difference in the study habits of students and the mean assessment mark obtained at the end of the first year course (p = 0.231). Statistical difference was found with the One-ANOVA test when comparing the mean assessment mark obtained at the end of the first year course when students are clustered by their Secondary Education Certificate (SEC) grade (p < 0.001). Those obtaining a SEC grade of 2 and 3 got the highest mean assessment of 68.33% and 66.9%, respectively [SEC grading is 1-7, where 1 is the highest]. The Friedman test was used to compare the mean difficulty rating scores provided for the difficulty of each topic. The mean difficulty rating score ranges from 1 to 4, where the larger the mean rating score, the higher the difficulty. When considering the whole group of students, nine topics out of 21 were perceived as significantly more difficult than the other topics. Protein synthesis, DNA Replication and Biomolecules were the most difficult, in that order. The Mann-Whitney U test revealed that the perceived level of difficulty in comprehending Biomolecules is significantly lower for students taking Chemistry compared to those not choosing the subject (p = 0.018). Protein Synthesis was claimed as the most difficult by Chemistry students and Biomolecules by those not studying Chemistry. DNA Replication was the second most difficult topic perceived by both groups. The Mann-Whitney U test was used to examine the effect of gender on the perceived level of difficulty in comprehending various topics. It was found that females have significantly more difficulty in comprehending Biomolecules than males (p=0.039). Protein synthesis was perceived as the most difficult topic by males (mean difficulty rating score = 3.14), while Biomolecules, DNA Replication and Protein synthesis were of equal difficulty for females (mean difficulty rating score = 3.00). Males and females perceived DNA Replication as equally difficult (mean difficulty rating score = 3.00). Discovering the students’ study habits and perceived level of difficulty of specific topics is vital for the lecturer to offer guidance that leads to higher academic achievement.

Keywords: biology, perceived difficulty, post-secondary, study habits

Procedia PDF Downloads 186

Authors: M. Sandhya, R. M. Madhumitha, Sharmila Sankar

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Interoperable medical devices (IMDs) face threats due to the increased attack surface accessible by interoperability and the corresponding infrastructure. Initiating networking and coordination functionalities primarily modify medical systems' security properties. Understanding the threats is a vital first step in ultimately crafting security solutions for such systems. The key to this problem is coming up with some common types of threats or attacks with those of security and privacy, and providing this information as a roadmap. This paper analyses the security issues in interoperability of devices and presents the main types of threats that have to be considered to build a secured system.

Keywords: interoperability, threats, attacks, medical devices

Procedia PDF Downloads 325

Authors: Rania Abdulkareem Aboubakr Mahdaly Ammar

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The aortic valve (AV) is a complex mechanical environment that includes flexure, tension, pressure and shear stress forces to blood flow during cardiac cycle. This mechanical environment regulates AV tissue structure by constantly renewing and remodeling the phenotype. In vitro, ex vivo and in vivo studies have explained that pathological states such as hypertension and congenital defects like bicuspid AV ( BAV ) can potentially alter the AV’s mechanical environment, triggering a cascade of remodeling, inflammation and calcification activities in AV tissue. Changes in mechanical environments are first sent by the endothelium that induces changes in the extracellular matrix, and triggers cell differentiation and activation. However, the molecular mechanism of this process is not very well understood. Understanding these mechanisms is critical for the development of effective medical based therapies. Recently, there have been some interesting studies on characterizing the hemodynamics associated with AV, especially in pathologies like BAV, using different experimental and numerical methods. Here, we review the current knowledge of the local AV mechanical environment and its effect on valve biology, focusing on in vitro and ex vivo approaches.

Keywords: aortic valve mechanobiology, bicuspid calcification, pressure stretch, shear stress

Procedia PDF Downloads 361

Authors: Nadir A. Carreon, Christa Sonderer, Aakarsh Rao, Roman Lysecky

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With the advent of complex software and increased connectivity, the security of life-critical medical devices is becoming an increasing concern, particularly with their direct impact on human safety. Security is essential, but it is impossible to develop completely secure and impenetrable systems at design time. Therefore, it is important to assess the potential impact on the security and safety of exploiting a vulnerability in such critical medical systems. The common vulnerability scoring system (CVSS) calculates the severity of exploitable vulnerabilities. However, for medical devices it does not consider the unique challenges of impacts to human health and privacy. Thus, the scoring of a medical device on which human life depends (e.g., pacemakers, insulin pumps) can score very low, while a system on which human life does not depend (e.g., hospital archiving systems) might score very high. In this paper, we propose a medical vulnerability scoring system (MVSS) that extends CVSS to address the health and privacy concerns of medical devices. We propose incorporating two new parameters, namely health impact, and sensitivity impact. Sensitivity refers to the type of information that can be stolen from the device, and health represents the impact on the safety of the patient if the vulnerability is exploited (e.g., potential harm, life-threatening). We evaluate fifteen different known vulnerabilities in medical devices and compare MVSS against two state-of-the-art medical device-oriented vulnerability scoring systems and the foundational CVSS.

Keywords: common vulnerability system, medical devices, medical device security, vulnerabilities

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Authors: Piyush Bajpai, Sneha Pandey

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Mumbai’s Dhobighat, 150 year old largest open laundry in the world, is the true live-work place and only source of income for some of Mumbai’s highest density ‘urban poor’ residents. The regeneration of Dhobighat, due to its ultra prime location and complex socio-political culture has been a complex issue. This once flourishing urban industrial core has been degrading for the past several decades mainly due to the decline of the open laundry business, the site’s over burdened infrastructure and conflicting socio-political and economic forces. The phenomena of ‘exaptation’ or ‘co-option’ has been observed by evolutionary biologists as a process responsible for producing highly tenacious and resilient offsprings within a species. The reddish egret uses its wings to cast shadow in shallow waters to attract small fish and hunt them. An unrelated feature used opportunistically to produce a very favorable result. How can this idea of co-option be applied to resolve the complex issue of Dhobighat’s regeneration? Our paper proposes a new methodology/approach for the regeneration of Dhobighat through the lens of evolutionary biology. Forces and systems (social, political, economic, cultural and ecological) that seem conflicting or unrelated by nature are opportunistically transformed into symbiotic and complimentary relationships that produce an inclusive, resilient and holistic solution for the regeneration of Dhobighat.

Keywords: urban regeneration, exaptation, resilience, Dhobighat, Mumbai

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Authors: Mohammed Saeed Jawad

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Metaverse involves the convergence of three major technologies trends of AI, VR, and AR. Together these three technologies can provide an entirely new channel for delivering healthcare with great potential to lower costs and improve patient outcomes on a larger scale. Telepresence is the technology that allows people to be together even if they are physically apart. Medical doctors can be symbolic as interactive avatars developed to have smart conversations and medical recommendations for patients at the different stages of the treatment. Medical digital assets such as Medical IoT for real-time remote healthcare monitoring as well as the symbolic doctors’ avatars as well as the hospital and clinical physical constructions and layout can be immersed in extended realities 3D metaverse environments where doctors, nurses, and patients can interact and socialized with the related digital assets that facilitate the data analytics of the sensed and collected personal medical data with visualized interaction of the digital twin of the patient’s body as well as the medical doctors' smart conversation and consultation or even in a guided remote-surgery operation.

Keywords: personal healthcare, metaverse, telemedicine, telepresence, avatar, medical consultation, remote-surgery

Procedia PDF Downloads 130

Authors: Palash Dutta

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More frequently uncertainties are encountered in medical diagnosis and therefore it is the most important and interesting area of applications of fuzzy set theory. In this present study, an attempt has been made to extend Sanchez’s approach for medical diagnosis via interval valued picture fuzzy sets and exhibit the technique with suitable case studies. In this article, it is observed that a refusal can be expressed in the databases concerning the examined objects. The technique is performing diagnosis on the basis of distance measures and as a result, this approach makes it possible to introduce weights of all symptoms and consequently patient can be diagnosed directly.

Keywords: medical diagnosis, uncertainty, fuzzy set, picture fuzzy set, interval valued picture fuzzy set

Procedia PDF Downloads 371

Authors: Catherine Bernard

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The maldistribution of clinicians within countries is well documented. It is a common theme throughout the world that rural areas often struggle to recruit and retain health workers resulting in inadequate healthcare for many. This paper will concentrate on the responsibilities that medical schools may have in addressing this shortage of rural health workers. Recommendations are made with regards to targeted rural student admissions, rurally-based medical schools, rural clinical rotations and a curriculum orientated towards rural health issues. The evidence gathered suggests that individual factors are positive in encouraging health workers to practice in rural locations. However, there is strength in numbers, and combining all the recommendations will likely result in a synergistic effect, thereby increasing numbers of rural health workers and achieving accessible healthcare for those living in rural populations.

Keywords: medical education, medical education design, public health, rural health

Procedia PDF Downloads 260

Authors: Fatemeh Noughani, Seyd Mehdi Sadat

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Medical tourism or travel therapy is travelling from one country to another to be under medical treatment, utilizing the health factors of natural sector like mineral water springs and so on. From 1990s medical tourism around the world developed and grew because of different factors like globalization and free trade in the fields of health services, changes in exchange rates in the world economy (which caused the desirability of Asian countries as a medical tourist attraction) in a way that currently there is a close competition in this field among famous countries in medical services to make them find a desirable place in medical tourism market of the world as a complicated and growing industry in a short time. Perhaps tourism is an attractive industry and a good support for the economy of Iran, if we try to merge oil earnings and tourism industry it would be better and more constructive than putting them in front of each other. Moving from oil toward tourism economy especially medical tourism, must be one of the prospects of Iran's government for the oil industry to provide a few percent of the yearly earnings of the country. Among the achievements in medical tourism we can name the prevention of brain drain to other countries and an increase in employment rate for healthcare staff, increase in foreign exchange earnings of the country because of the tourists' staying and followed by increasing the quality of life and cultural transmission as well as empowering the medical human resources.

Keywords: developing countries, health tourism, quality of life, cultural transmission

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Authors: Emmanuel Temitope Adaranijo

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Medical error is on the increase in many nations and like many developing nations, Nigeria is not excluded and more importantly, Lafia, Nasarawa state, where the study was carried. The study was undertaken to explore Patients' knowledge and their reactions to medical errors in hospitals in Lafia Local Government Area; therefore, five objectives were formulated to guide the study. The survey research design was employed and triangulation of quantitative and qualitative instruments was used to collect data. The total population for the study was 330,712 and the sample size was 400; however, only 343 patients and three doctors responded to the quantitative and qualitative study, respectively. Frequency distribution, simple percentage, and r test were used to analyze the data obtained from respondents. The findings revealed that medical errors are prevalent in hospitals in Lafia and the patients are neither aware nor willing to report such occurrence. The study recommends that social workers, hospital management, and governments should take up their roles in reducing the occurrence of medical errors.

Keywords: health, hospital, medical errors, social work

Procedia PDF Downloads 126

Authors: Sanjeev Sharma, Suman Lata

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With the availability of diverse printed, electronic literature and web sites on medical and health related information, it is impossible for the medical professional to get the information he seeks in the shortest possible time. For all these problems information literacy is the only solution. Thus, information literacy is recognized as an important aspect of medical education. In the present study, an attempt has been made to know the information literacy skills of the faculty and students at medical colleges of Haryana, Punjab and Chandigarh. The scope of the study was confined to the 12 selected medical colleges of three States (Haryana, Punjab, and Chandigarh). The findings of the study were based on the data collected through 1018 questionnaires filled by the respondents of the medical colleges. It was found that Online Medical Websites (such as WebMD, eMedicine and Mayo Clinic etc.) were frequently used by 63.43% of the respondents of Chandigarh which is slightly more than Haryana (61%) and Punjab (55.65%). As well, 30.86% of the respondents of Chandigarh, 27.41% of Haryana and 27.05% of Punjab were familiar with the controlled vocabulary tool; 25.14% respondents of Chandigarh, 23.80% of Punjab, 23.17% of Haryana were familiar with the Boolean operators; 33.05% of the respondents of Punjab, 28.19% of Haryana and 25.14% of Chandigarh were familiar with the use and importance of the keywords while searching an electronic database; and 51.43% of the respondents of Chandigarh, 44.52% of Punjab and 36.29% of Haryana were able to make effective use of the retrieved information. For accessing information in electronic format, 47.74% of the respondents rated their skills high, while the majority of respondents (76.13%) were unfamiliar with the basic search technique i.e. Boolean operator used for searching information in an online database. On the basis of the findings, it was suggested that a comprehensive training program based on medical professionals information needs should be organized frequently. Furthermore, it was also suggested that information literacy may be included as a subject in the health science curriculum so as to make the medical professionals information literate and independent lifelong learners.

Keywords: information, information literacy, medical professionals, medical colleges

Procedia PDF Downloads 152

Authors: Atsuko Okazaki, Jurg Ott

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Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

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Authors: Anny Retnowati, Elisabeth Sundari

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This research aims to elaborate the meaning of personal data protection principles on patient access to health data in medical records in Indonesia and its implications. The method uses normative legal research by examining health law in Indonesia regarding the patient's right to access their health data in medical records. The data will be analysed qualitatively using the interpretation method to elaborate on the limitation of the meaning of personal data protection principles on patients' access to their data in medical records. The results show that patients only have the right to obtain copies of their health data in medical records. There is no right to inspect directly at any time. Indonesian health law limits the principle of patients' right to broad access to their health data in medical records. This restriction has implications for the reduction of personal data protection as part of human rights. This research contribute to show that a limitaion of personal data protection may abuse the human rights.

Keywords: access, health data, medical records, personal data, protection

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Authors: Kingsley Oturu, Winifred Ijomah, Wale Coker, Chibueze Achi

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With the impact of BREXIT and the need for cross-border collaboration, this international research investigated the use of a conceptual model for remanufacturing medical equipment (with a focus on anesthetic machines and baby incubators). Early findings of the research suggest that contextual factors need to be taken into consideration, as well as an emphasis on cleaning (e.g., sterilization) during the process of remanufacturing medical equipment. For example, copper tubings may be more important in the remanufacturing of anesthetic equipment in tropical climates than in cold climates.

Keywords: medical equipment remanufacture, sustainability, circular business models, remanufacture process model

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Authors: Lesley Northrop, Justin DeGrazia, Jessica Greenwood

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ASPIRA Labs now offers an en-suit and ready-to-implement technology transfer solution to enable labs and hospitals that lack the resources to build it themselves to offer in-house genetic testing. This unique platform employs a patented Molecular Inversion Probe (MIP) technology that combines the specificity of a hybrid capture protocol with the ease of an amplicon-based protocol and utilizes an advanced bioinformatics analysis pipeline based on machine learning. To demonstrate its efficacy, two independent genetic tests were validated on this technology transfer platform: expanded carrier screening (ECS) and hereditary cancer testing (HC). The analytical performance of ECS and HC was validated separately in a blinded manner for calling three different types of variants: SNVs, short indels (typically, <50 bp), and large indels/CNVs defined as multi-exonic del/dup events. The reference set was constructed using samples from Coriell Institute, an external clinical genetic testing laboratory, Maine Molecular Quality Controls Inc. (MMQCI), SeraCare and GIAB Consortium. Overall, the analytical performance showed a sensitivity and specificity of >99.4% for both ECS and HC in detecting SNVs. For indels, both tests reported specificity of 100%, and ECS demonstrated a sensitivity of 100%, whereas HC exhibited a sensitivity of 96.5%. The bioinformatics pipeline also correctly called all reference CNV events resulting in a sensitivity of 100% for both tests. No additional calls were made in the HC panel, leading to a perfect performance (specificity and F-measure of 100%). In the carrier panel, however, three additional positive calls were made outside the reference set. Two of these calls were confirmed using an orthogonal method and were re-classified as true positives leaving only one false positive. The pipeline also correctly identified all challenging carrier statuses, such as positive cases for spinal muscular atrophy and alpha-thalassemia, resulting in 100% sensitivity. After confirmation of additional positive calls via long-range PCR and MLPA, specificity for such cases was estimated at 99%. These performance metrics demonstrate that this tech-transfer solution can be confidently internalized by clinical labs and hospitals to offer mainstream ECS and HC as part of their test catalog, substantially increasing access to quality germline genetic testing for labs of all sizes and resources levels.

Keywords: clinical genetics, genetic testing, molecular genetics, technology transfer

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Authors: Sharmeen Rahman, Daniel Schmidt, Jane Hughes

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Paratya australiensis Kemp (Decapoda: Atyidae) is a widely distributed indigenous freshwater shrimp, highly abundant in eastern Australia. This species has been considered as a model stream organism to study genetics, dispersal, biology, behaviour and evolution in Atyids. Paratya has a filter feeding and scavenging habit which plays a significant role in the formation of lotic community structure. It has been shown to reduce periphyton and sediment from hard substrates of coastal streams and hence acts as a strongly-interacting ecosystem macroconsumer. Besides, Paratya is one of the major food sources for stream dwelling fishes. Paratya australiensis is a cryptic species complex consisting of 9 highly divergent mitochondrial DNA lineages. Among them, one lineage has been observed to favour upstream sites at higher altitudes, with cooler water temperatures. This study aims to identify local adaptation in upstream and downstream populations of this lineage in three streams in the Conondale Range, North-eastern Brisbane, Queensland, Australia. Two populations (up and down stream) from each stream have been chosen to test for local adaptation, and a parallel pattern of adaptation is expected across all streams. Six populations each consisting of 24 individuals were sequenced using the Restriction Site Associated DNA-seq (RAD-seq) technique. Genetic markers (SNPs) were developed using double digest RAD sequencing (ddRAD-seq). These were used for de novo assembly of Paratya genome. De novo assembly was done using the STACKs program and produced 56, 344 loci for 47 individuals from one stream. Among these individuals, 39 individuals shared 5819 loci, and these markers are being used to test for local adaptation using Fst outlier tests (Arlequin) and Bayesian analysis (BayeScan) between up and downstream populations. Fst outlier test detected 27 loci likely to be under selection and the Bayesian analysis also detected 27 loci as under selection. Among these 27 loci, 3 loci showed evidence of selection at a significance level using BayeScan program. On the other hand, up and downstream populations are strongly diverged at neutral loci with a Fst =0.37. Similar analysis will be done with all six populations to determine if there is a parallel pattern of adaptation across all streams. Furthermore, multi-locus among population covariance analysis will be done to identify potential markers under selection as well as to compare single locus versus multi-locus approaches for detecting local adaptation. Adaptive genes identified in this study can be used for future studies to design primers and test for adaptation in related crustacean species.

Keywords: Paratya australiensis, rainforest streams, selection, single nucleotide polymorphism (SNPs)

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Authors: Wanda Luen-Wun Siu, Xiaowen Zhang

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The outbreak of the COVID-19 epidemic has caused great difficulties for South-South cooperation, but there are also opportunities. China’s health diplomacy has changed from dispatching medical teams, assisting in the construction of hospitals, and encouraging medical investment in the Africa health sector. This paper adopted a retrospective review of China’s health diplomacy in Africa from 1963 to 2020. Findings suggested that China has a preference for aiding Africa health infrastructure and sending medical teams to African countries. China’s health diplomacy in Africa is a success and has established secure diplomatic relations with African countries, thanks to the medical and health assistance to Africa over 60 years. This research contributes to the literature of health diplomacy and foreign relations and indicates that China’s health aid has fostered cooperation at the medical and diplomatic levels.

Keywords: Africa, china’s health diplomacy, COVID-19, bilateral relations

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Authors: Y. Y. Babanyara, D. B. Ibrahim, T. Garba

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Proper management of medical waste is a crucial issue for maintaining human health and the environment. The waste generated in the hospitals has the potential for spreading infections and causing diseases. The study is aimed at assessing the medical waste management practices in Nigeria. Three instruments, questionnaire administration, in-depth interview and observation method for data collection were adopted in the study. The results revealed that the hospital does not quantify medical waste. Segregation of medical wastes is not conducted according to definite rules and standards. Wheeled trolleys are used for on-site transportation of waste from the points of production to the temporary storage area. Offsite transportation of the hospital waste is undertaken by a private waste management company. Small pickups are mainly used to transport waste daily to an off-site area for treatment and disposal. The main treatment method used in the final disposal of infectious waste is incineration. Non-infectious waste is disposed off using land disposal method. The study showed that the hospital does not have a policy and plan in place for managing medical waste. The study revealed number of problems the hospital faces in terms of medical waste management, including; lack of necessary rules, regulations and instructions on the different aspects of collections and disposal of waste, failure to quantify the waste generated in reliable records, lack of use of coloured bags by limiting the bags to only one colour for all waste, the absence of a dedicated waste manager, and no committee responsible for monitoring the management of medical waste. Recommendations are given with the aim of improving medical waste management in the hospital.

Keywords: medical waste, treatment, disposal, public health

Procedia PDF Downloads 312

Authors: Zahra Asgharpour, Eric Renteria, Sebastian De Boodt

Abstract:

There is a growing trend towards personalization of medical care, as evidenced by the emphasis on outcomes based medicine, the latest developments in CT and MR imaging and personalized treatment in a variety of surgical disciplines. 3D Printing has been introduced and applied in the medical field since 2000. The first applications were in the field of dental implants and custom prosthetics. According to recent publications, 3D printing in the medical field has been used in a wide range of applications which can be organized into several categories including implants, prosthetics, anatomical models and tissue bioprinting. Some of these categories are still in their infancy stage of the concept of proof while others are in application phase such as the design and manufacturing of customized implants and prosthesis. The approach of 3D printing in this category has been successfully used in the health care sector to make both standard and complex implants within a reasonable amount of time. In this study, some of the clinical applications of 3D printing in design and manufacturing of a patient-specific hip implant would be explained. In cases where patients have complex bone geometries or are undergoing a complex revision on hip replacement, the traditional surgical methods are not efficient, and hence these patients require patient-specific approaches. There are major advantages in using this new technology for medical applications, however, in order to get this technology widely accepted in medical device industry, there is a need for gaining more acceptance from the medical device regulatory offices. This is a challenge that is moving onward and will help the technology find its way at the end as an accepted manufacturing method for medical device industry in an international scale. The discussion will conclude with some examples describing the future directions of 3D Medical Printing.

Keywords: CT/MRI, image processing, 3D printing, medical devices, patient specific implants

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Authors: Mohamed Fawzy Elzarei, Yousef Mohammed Al-Dakheel, Ali Mohamed Alseaf

Abstract:

Modern molecular techniques, like single marker analysis for linked traits to these markers, can provide us with rapid and accurate genetic results. In the last two decades of the last century, the applications of molecular techniques were reached a faraway point in cattle, sheep, and pig. In goats, especially in our region, the application of molecular techniques is still far from other species. As reported by many researchers, microsatellites marker is one of the suitable markers for lie studies. The single marker linked to traits of interest is one technique allowed us to early select animals without the necessity for mapping the entire genome. Simplicity, applicability, and low cost of this technique gave this technique a wide range of applications in many areas of genetics and molecular biology. Also, this technique provides a useful approach for evaluating genetic differentiation, particularly in populations that are poorly known genetically. The expected breeding value (EBV) and yield deviation (YD) are considered as the most parameters used for studying the linkage between quantitative characteristics and molecular markers, since these values are raw data corrected for the non-genetic factors. A total of 17 microsatellites markers (from chromosomes 6, 14, 18, 20 and 23) were used in this study to search for areas that could be responsible for genetic variability for some milk traits and search of chromosomal regions that explain part of the phenotypic variance. Results of single-marker analyses were used to identify the linkage between microsatellite markers and variation in EBVs of these traits, Milk yield, Protein percentage, Fat percentage, Litter size and weight at birth, and litter size and weight at weaning. The estimates of the parameters from forward and backward solutions using stepwise regression procedure on milk yield trait, only two markers, OARCP9 and AGLA29, showed a highly significant effect (p≤0.01) in backward and forward solutions. The forward solution for different equations conducted that R2 of these equations were highly depending on only two partials regressions coefficient (βi,) for these markers. For the milk protein trait, four marker showed significant effect BMS2361, CSSM66 (p≤0.01), BMS2626, and OARCP9 (p≤0.05). By the other way, four markers (MCM147, BM1225, INRA006, andINRA133) showed highly significant effect (p≤0.01) in both backward and forward solutions in association with milk fat trait. For both litter size at birth and at weaning traits, only one marker (BM143(p≤0.01) and RJH1 (p≤0.05), respectively) showed a significant effect in backward and forward solutions. The estimates of the parameters from forward and backward solution using stepwise regression procedure on litter weight at birth (LWB) trait only one marker (MCM147) showed highly significant effect (p≤0.01) and two marker (ILSTS011, CSSM66) showed a significant effect (p≤0.05) in backward and forward solutions.

Keywords: microsatellites marker, estimated breeding value, stepwise regression, milk traits

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Authors: Laura Gantley, Vanessa M. Conn, Stuart Webb, Kirsty Kirk, Marta Gabryelska, Duncan Holds, Brett W. Stringer, Simon J. Conn

Abstract:

Trinucleotide repeat disorders comprise ~20 severe, inherited human neuromuscular and neurodegenerative disorders, which are a result of an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington’s disease, results from the expansion of the CAG repeat region in exon 1 of the HTT gene via an unknown mechanism. Non-coding RNAs have been implicated in the initiation and progression of many diseases; thus, we focus on one circular RNA (circRNA) molecule arising from non-canonical splicing (back splicing) of HTT pre-mRNA. This circRNA and its mouse orthologue were transgenically overexpressed in human cells (SHSY-5Y and HEK293T) and mouse cells (Mb1), respectively. High-content imaging and flow cytometry demonstrated the overexpression of this circRNA reduces cell proliferation, reduces nuclear size independent of cellular size, and alters cell cycle progression. Analysis of protein by western blot and immunofluorescence demonstrated no change to HTT protein levels but altered nuclear-cytoplasmic distribution without impacting the expansion of the HTT repeat region. As these phenotypic and genotypic changes are found in Huntington’s disease patients, these results may suggest that this circRNA may play a functional role in the progression of Huntington’s disease.

Keywords: cell biology, circular RNAs, Huntington’s disease, molecular biology, neurodegenerative disorders

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Authors: Eszter Repasi, Akos Koller

Abstract:

Our genetic information determines our look, physiology, sports performance and all our features. Maximizing the performances of athletes have adopted a science-based approach to the nutritional support. Nowadays genetics studies have blended with nutritional sciences, and a dynamically evolving, new research field have appeared. Nutritional genomics is needed to be used by nutritional experts. This is a recent field of nutritional science, which can provide a solution to reach the best sport performance using correlations between the athlete’s genome, nutritions, molecules, included human microbiome (links between food, microbiome and epigenetics), nutrigenomics and nutrigenetics. Nutritional genomics has a tremendous potential to change the future of dietary guidelines and personal recommendations. Experts need to use new technology to get information about the athletes, like nutritional genomics profile (included the determination of the oral and gut microbiome and DNA coded reaction for food components), which can modify the preparation term and sports performance. The influence of nutrients on the genes expression is called Nutrigenomics. The heterogeneous response of gene variants to nutrients, dietary components is called Nutrigenetics. The human microbiome plays a critical role in the state of health and well-being, and there are more links between food or nutrition and the human microbiome composition, which can develop diseases and epigenetic changes as well. A nutritional genomics-based profile of athletes can be the best technic for a dietitian to make a unique sports nutrition diet plan. Using functional food and the right food components can be effected on health state, thus sports performance. Scientists need to determine the best response, due to the effect of nutrients on health, through altering genome promote metabolites and result changes in physiology. Nutritional biochemistry explains why polymorphisms in genes for the absorption, circulation, or metabolism of essential nutrients (such as n-3 polyunsaturated fatty acids or epigallocatechin-3-gallate), would affect the efficacy of that nutrient. Controlled nutritional deficiencies and failures, prevented the change of health state or a newly discovered food intolerance are observed by a proper medical team, can support better sports performance. It is important that the dietetics profession informed on gene-diet interactions, that may be leading to optimal health, reduced risk of injury or disease. A special medical application for documentation and monitoring of data of health state and risk factors can uphold and warn the medical team for an early action and help to be able to do a proper health service in time. This model can set up a personalized nutrition advice from the status control, through the recovery, to the monitoring. But more studies are needed to understand the mechanisms and to be able to change the composition of the microbiome, environmental and genetic risk factors in cases of athletes.

Keywords: gene-diet interaction, multidisciplinary team, microbiome, diet plan

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Authors: Zeynep Sener, Mehtap Dursun

Abstract:

Supplier evaluation and selection is one of the most important components of an effective supply chain management system. Due to the expanding competition in healthcare, selecting the right medical device suppliers offers great potential for increasing quality while decreasing costs. This paper proposes a fuzzy decision making approach for medical supplier selection. A real-world medical device supplier selection problem is presented to illustrate the application of the proposed decision methodology.

Keywords: fuzzy decision making, fuzzy multiple objective programming, medical supply chain, supplier selection

Procedia PDF Downloads 447

Authors: Boyun Lee

Abstract:

This study aims to discuss whether anthropomorphism some scientists tend to use in cross-species comparison can be justified epistemologically, especially in the primate mind-reading debate. Concretely, this study critically analyzes Elliott Sober’s argument about mind-reading hypothesis (MRH), an anthropomorphic hypothesis which states that nonhuman primates (e.g., chimpanzee) are mind-readers like humans. Although many scientists consider anthropomorphism as an error and choosing anthropomorphic hypothesis like MRH without any definite evidence invalid, Sober advocates that anthropomorphism is supported by cladistic parsimony that suggests choosing the simplest hypothesis postulating the minimum number of evolutionary changes, which can be justified epistemologically in the mind-reading debate. However, his argument has several problems. First, Reichenbach’s theorem which Sober uses in process of showing that MRH has the higher likelihood than its competing hypothesis, behavior-reading hypothesis (BRH), does not fit in the context of inferring the evolutionary relationship. Second, the phylogenetic tree Sober supports is one of the possible scenarios of MRH, and even without this problem, it is difficult to prove that the possibility nonhuman primate species and human share mind-reading ability is higher than the possibility of the other case, considering how evolution occurs. Consequently, it seems hard to justify anthropomorphism of MRH under Sober’s argument. Some scientists and philosophers say that anthropomorphism sometimes helps observe interesting phenomena or make hypotheses in comparative biology. Nonetheless, we cannot determine that it provides answers about why and how the interesting phenomena appear or which of the hypotheses is better, at least the mind-reading debate, under the current state.

Keywords: anthropomorphism, cladistic parsimony, comparative biology, mind-reading debate

Procedia PDF Downloads 168