Search results for: elderly hip fracture patients

Authors: Farhood Rismanchian, Seong Hyeon Park, Young Hoon Lee

Abstract:

This paper proposes a method to optimize the layout of an emergency department (ED) based on real executions of care processes by considering several planning objectives simultaneously. Recently, demand for healthcare services has been dramatically increased. As the demand for healthcare services increases, so do the need for new healthcare buildings as well as the need for redesign and renovating existing ones. The importance of implementation of a standard set of engineering facilities planning and design techniques has been already proved in both manufacturing and service industry with many significant functional efficiencies. However, high complexity of care processes remains a major challenge to apply these methods in healthcare environments. Process mining techniques applied in this study to tackle the problem of complexity and to enhance care process analysis. Process related information such as clinical pathways extracted from the information system of an ED. A 0-1 goal programming approach is then proposed to find a single layout that simultaneously satisfies several goals. The proposed model solved by optimization software CPLEX 12. The solution reached using the proposed method has 42.2% improvement in terms of walking distance of normal patients and 47.6% improvement in walking distance of critical patients at minimum cost of relocation. It has been observed that lots of patients must unnecessarily walk long distances during their visit to the emergency department because of an inefficient design. A carefully designed layout can significantly decrease patient walking distance and related complications.

Keywords: healthcare operation management, goal programming, facility layout problem, process mining, clinical processes

Procedia PDF Downloads 296

Authors: Phusit Phukamchanoad, Thananya Santithammakul, Suwaree Yordchim, Pennapa Palapin

Abstract:

This research gathered local wisdom towards career building of people in Kamchanoad Community, Baan Muang sub-district, Baan Dung district, Udon Thani province. Data was collected through in-depth interviews with village headmen, community board, teachers, monks, Kamchanoad forest managers and revered elderly aged over 60 years old. All of these 30 interviewees have resided in Kamchanoad Community for more than 40. Descriptive data analysis result revealed that the most prominent local wisdom of Kamchanoad community is their beliefs and religion. Most people in the community have strongly maintained local tradition, the festival of appeasing Chao Pu Sri Suttho on the middle of the 6th month of Thai lunar calendar which falls on the same day with Vesak Day. 100 percent of the people in this community are Buddhist. They believe that Naga, an entity or being, taking the form of a serpent, named “Sri Suttho” lives in Kamchanoad forest. The local people worship the serpent and ask for blessings. Another local wisdom of this community is Sinh fabric weaving.

Keywords: local wisdoms, careers, Kamchanoad Community, career building

Procedia PDF Downloads 314

Authors: Vibhushan Subba

Abstract:

B-movies are almost always ‘glanced over’, ‘swept beneath’, ‘hidden from’ and ‘locked away’ to live a secret life; a life that exists but enjoys only a mummified existence behind layers of protective covering. They are more often than not discarded as ‘trash’, ‘sleaze’, ‘porn’ and put down for their ‘bad taste’ or at least that has been the case in India. With the art film entering the realm of high art, the popular and the mainstream has been increasingly equated with the A grade Bollywood film. This leaves the B-movie to survive as a degraded cultural artifact on the fringes of the mainstream. Kanti Shah’s films are part of a secret, traversing the libidinal circuits of the B and C grade through history. His films still circulate like a corporeal reminder of the forbidden and that which is taboo, like a hidden fracture that threatens to split open bourgeois respectability. Seeking to find answers to an aesthetic that has been rejected and hidden, this paper looks at three films of Kanti Shah to see how the notion of taboo, censorship and the unseen coincide, how they operate in the domain of his cinema and try and understand a form that draws our attention to the subterranean forces at work.

Keywords: B-movies, trash, taboo, censorship

Procedia PDF Downloads 461

Authors: Ena Arora, Rong Fan, Aleksandr Fuks, Kolawole Felix Akinnawonu

Abstract:

Introduction: Leiomyomas are benign tumors that are derived from the overgrowth of uterine smooth muscle cells. Women with symptomatic leiomyomas who desire future fertility, myomectomy should be the standard surgical treatment. Perioperative hemorrhage is a common complication in myomectomy. We performed the study to investigate blood transfusion rate in abdominal myomectomies, risk factors influencing blood loss and modalities to improve perioperative blood loss. Methods: Retrospective chart review was done for patients who underwent myomectomy from 2016 to 2022 at Queens hospital center, New York. We looked at preoperative patient demographics, clinical characteristics, intraoperative variables, and postoperative outcomes. Mann-Whitney U test were used for parametric and non-parametric continuous variable comparisons, respectively. Results: A total of 159 myomectomies were performed between 2016 and 2022, including 1 laparoscopic, 65 vaginal and 93 abdominal. 44 patients received blood transfusion during or within 72 hours of abdominal myomectomy. The blood transfusion rate was 47.3%. Blood transfusion rate was found to be twice higher than the average documented rate in literature which is 20%. Risk factors identified were black race, preoperative hematocrit<30%, preoperative blood transfusion within 72 hours, large fibroid burden, prolonged surgical time, and abdominal approach. Conclusion: Preoperative optimization with iron supplements or GnRH agonists is important for patients undergoing myomectomy. Interventions to decrease intra operative blood loss should include cell saver, tourniquet, vasopressin, misoprostol, tranexamic acid and gelatin-thrombin matrix hemostatic sealant.

Keywords: myomectomy, perioperative blood loss, cell saver, tranexamic acid

Procedia PDF Downloads 85

Authors: Amar Sabih, James Nemes

Abstract:

The occurrence of internal ductile failure within the Adiabatic Shear Band (ASB) in cold-headed products presents a significant barrier in the fast-expanding cold-heading (CH) industry. The presence of internal ductile failure in cold-headed products may lead to catastrophic fracture under tensile loads despite the ductile nature of the material causing expensive industrial recalls. Therefore, this paper presents a workability criterion that uses stress instability as an indicator to accurately reveal the locus of initiation of internal ductile failures. The concept of the instability criterion is to use the stress ratio at failure as a weighting function to indicate the initiation of ductile failure inside the ASBs. This paper presents a comprehensive experimental, metallurgical, and finite element simulation study to calculate the material constants used in this criterion.

Keywords: adiabatic shear band, workability criterion, ductile failure, stress instability

Procedia PDF Downloads 90

Authors: Mohammed Saeed Jawad

Abstract:

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 135

Authors: S. H. Bae, D. W. Cho, W. B. Jeong, J. R. Cho

Abstract:

Fatigue fracture of an aluminum welded structure is a phenomenon frequently occurring from pores in a weld. In order to grasp the state of the welded structure in operation in real time, the acceleration signal of the structure is measured. At this time, the vibration characteristic of the signal according to the fatigue load is an important parameter of the state diagnosis. This paper was an experimental study on the variation of vibration characteristics of welded beams with vibration aging (especially bending vibration). First simple beams were produced according to welding conditions. Each beam was vibrated and measured beam's PSD (power spectral density) according to the degree of aging. Also, modal testing was conducted to compare the transfer functions of welded beams. Testing result shows that the natural frequencies of the beam changed with the vibration aging due to the change of stiffness in welding part and its stiffness was estimated by the finite element method.

Keywords: modal testing, natural frequency, vibration aging, welded structure

Procedia PDF Downloads 483

Authors: Parveen Kundu, Zile Singh, Kunika Kundu, Swaran Kaur

Abstract:

Context: Tuberculous osteomyelitis is a relatively uncommon condition that can present with various clinical and radiological features, often mimicking bone tumors or tumor-like lesions. In endemic countries like India, tuberculosis should be considered as a potential differential diagnosis for lytic bone lesions. This study aimed to highlight the different presentations of tuberculosis that can mimic tumors or tumor-like lesions in bone and emphasize the successful outcome of antitubercular therapy (ATT) in treating these cases. Research Aim: The main objective of this research was to explore the varied presentations of tuberculosis that mimic bone tumors or tumor-like lesions both clinically and radiologically, focusing on different bones. The study aimed to raise awareness among clinicians about this possibility and highlight the importance of histopathological confirmation before initiating treatment for lytic bone lesions. Methodology: This study utilized a retrospective review of 22 patients with suspected lytic bone lesions, who were subsequently diagnosed with tuberculous osteomyelitis through histopathological examination. The cases were collected over a period of ten years. Eleven cases required curettage for extensive lesions with sequestrations, while all 22 patients received 12 months of antitubercular therapy. Findings: The study included 14 male and 8 female patients, ranging in age from 3 to 61 years, with an average age of 22.05. The clinical and radiological presentations varied, with examples including bone cysts in the metaphyseal area of long bones, lesions resembling chondroblastomas, giant cell tumors, and osteoid osteoma, as well as multifocal lytic lesions resembling metastasis or multiple myeloma. One patient had lesions in both the clavicle and hand. Lesions mimicking chondromas were also observed in the phalanges of the hand and foot metatarsal. All patients showed resolution of the lesions and no residual disability following ATT. Theoretical Importance: This study highlights the importance of considering tuberculosis as a potential differential diagnosis for lytic bone lesions, particularly in endemic regions. It emphasizes the need for histopathological confirmation to accurately diagnose tuberculous osteomyelitis, as this is considered the gold standard. Data Collection and Analysis Procedures: Data for this study were collected retrospectively from medical records and radiological images of the 22 patients. The cases were analyzed based on clinical presentation, radiological findings, and histopathological confirmation. The outcomes of antitubercular therapy were also assessed. The data were summarized and presented descriptively. Question Addressed: This study aimed to address the question of how tuberculosis can mimic different bone tumors and tumor-like lesions clinically and radiologically. It also aimed to assess the successful outcome of antitubercular therapy in treating these cases. Conclusion: Tuberculous osteomyelitis can present with varied clinical and radiological features, often mimicking bone tumors or tumor-like lesions. Clinicians should consider tuberculosis as a potential diagnosis for lytic bone lesions, especially in endemic areas. Histopathological confirmation is essential for accurate diagnosis. Antitubercular therapy is an effective treatment for tuberculous osteomyelitis, leading to the resolution of the lesions with no residual disability.

Keywords: tuberculosis, tumor, curettage, bone

Procedia PDF Downloads 91

Authors: Ifeoma Anozie, Teka Apalata, Dominic Abaver

Abstract:

Introduction: Despite use of Anti-retroviral therapy to reduce the incidence of opportunistic infections among HIV/AIDS patients, rapid episodes of re-infection after deworming are still common occurrences because pharmaceutical intervention alone does not prevent reinfection. Unsafe water and inadequate personal hygiene and parasitic infections are widely expected to accelerate the progression of HIV infection. This is because the chronic immunosuppression of HIV infection encourages susceptibility to opportunistic (including parasitic) infections which is linked to CD4+ cell count of <200 cells/μl. Intestinal parasites such as G. intestinalis and Entamoeba spp are ubiquitous protozoa that remain infectious over a long time in an environment and show resistance to standard disinfection. To control re-infection, the social factors that underpin the prevention need to be controlled. This study aims at prevention of intestinal parasites in people living with HIV/AIDS by using a treatment, hygiene education and sanitation (THEdS) bundle approach. Methods: This study was conducted in four clinics (Ngangelizwe health centre, Tsolo gateway clinic, Idutywa health centre and Nqamakwe health centre) across the seven districts in Eastern cape, South Africa. The four clinics were divided in two: experimental and control, for the purpose of intervention. Data was collected from March 2019 to February 2020. Six hundred participants were screened for intestinal parasitic infections. Stool samples were collected and analysed twice: before (Pre-test infection screening) and after (Post-test re-infection) THEdS bundle intervention. The experimental clinics received full intervention package, which include therapeutic treatment, health education on personal hygiene and sanitation training, while the control clinics received only therapeutic treatment for those found with intestinal parasitic infections. Results: Baseline prevalence of Intestinal Parasites isolated shows 12 intestinal parasites with overall frequency of 65, with Ascaris lumbricoides having most frequency (44.6%). The intervention had a cure rate of 60%, with odd ratio of 1.42, which indicates that the intervention group is 1.42 times more likely of parasite clearing as compared to the control group. The relative risk ratio of 1.17 signifies that there is 1.17 times more likelihood to clear intestinal parasite if there no intervention. Discussion and conclusion: Infection with multiple parasites can cause health defects, especially among HIV/AIDS patients. Efficiency of some HIV vaccines in HIV/AIDS patients is affected because treatment of re-infection amplifies drug resistance, affects the efficacy of the front-line drugs, and still permits transmission. In South Africa, treatment of intestinal parasites is usually offered to clinic attending HIV/AIDS patients upon suspicion but not as a mandate for patients being initiated into Antiretroviral (ART) program. The effectiveness of THEdS bundle advocates for inclusiveness of mandatory screening for intestinal parasitic infections among attendees of HIV/Aids clinics on regular basis.

Keywords: cure rate, , HIV/AIDS patients, intestinal parasites, intervention studies, reinfection rate

Procedia PDF Downloads 76

Authors: Kittiphat Rattanachan

Abstract:

The sheet metal forming process, the raw material mechanical properties are important parameters. This paper is to compare the wall’s incline angle or formability of SS 400 steel and SUS 304 stainless steel in single point incremental forming. The two materials are ferrous base alloy, which have the different cell unit, mechanical property and chemical composition. They were forming into cone shape specimens 100 mm diameter with different wall’s incline angle: 90o, 75o, and 60o. The investigation, the specimens were forming until the surface fracture was occurred. The experimental result showed that both materials with the smaller wall’s incline angle, the higher formability. The formability limited of the ferrous base alloy was approx. 60o wall’s incline angle. By nature, SS 400 was higher formability than SUS 304. This result could be used as the initial utilized data in designing the single point incremental forming parts.

Keywords: NC incremental forming, single point incremental forming, wall incline angle, formability

Procedia PDF Downloads 344

Authors: Mohammed A. Sakr, Tarek M. Khalifa, Walid N. Mansour

Abstract:

Fiber reinforced polymer (FRP) installation is a very effective way to repair and strengthen structures that have become structurally weak over their life span. This technique attracted the concerning of researchers during the last two decades. This paper presents a simple uniaxial nonlinear finite element model (UNFEM) able to accurately estimate the load-carrying capacity, different failure modes and the interfacial stresses of reinforced concrete (RC) continuous beams flexurally strengthened with externally bonded FRP plates on the upper and lower fibers. Results of the proposed finite element (FE) model are verified by comparing them with experimental measurements available in the literature. The agreement between numerical and experimental results is very good. Considering fracture energy of adhesive is necessary to get a realistic load carrying capacity of continuous RC beams strengthened with FRP. This simple UNFEM is able to help design engineers to model their strengthened structures and solve their problems.

Keywords: continuous beams, debonding, finite element, fibre reinforced polymer

Procedia PDF Downloads 482

Authors: Mohan Kotamrazu

Abstract:

Tall buildings block and divert strong upper level winds to the ground. These high velocity winds many a time create adverse wind effects at ground level which can be uncomfortable and even compromise the safety of pedestrians and people who frequent the spaces in the vicinity of tall buildings. Discomfort can be experienced around the entrances and corners of tall buildings. Activities such as strolling or sitting in a park, waiting for a bus near a tall building can become highly unpleasant. For the elderly unpleasant conditions can also become dangerous leading to accidents and injuries. Today there is a growing concern among architects, planners and urban designers about the wind environment in the vicinity of tall building. Regulating authorities insist on wind tunnel testing of tall buildings in cities such as Wellington, Auckland, Boston, San Francisco, etc. prior to granting permission for their construction The present paper examines the different ways that tall buildings can induce strong winds at pedestrian level and their impact on people who frequent the spaces around tall buildings.

Keywords: tall buildings, wind effects, wind comfort, wind safety

Procedia PDF Downloads 373

Authors: Monika Jurkeviciute, Amia Enam, Johanna Torres Bonilla, Henrik Eriksson

Abstract:

Introduction: Many evaluations of eHealth interventions conclude that the evidence for improved clinical outcomes is limited, especially when the intervention is short, such as one year. Often, evaluation design does not address the feasibility of achieving clinical outcomes. Evaluations are designed to reflect upon clinical goals of intervention without utilizing the opportunity to illuminate effects on organizations and cost. A comprehensive design of evaluation can better support decision-making regarding the effectiveness and potential transferability of eHealth. Hence, the purpose of this paper is to present a feasible and comprehensive design of evaluation for eHealth intervention, including the design process in different contexts. Methodology: The situation of limited feasibility of clinical outcomes was foreseen in the European Union funded project called “DECI” (“Digital Environment for Cognitive Inclusion”) that is run under the “Horizon 2020” program with an aim to define and test a digital environment platform within corresponding care models that help elderly people live independently. A complex intervention of eHealth implementation into elaborate care models in four different countries was planned for one year. To design the evaluation, a participative approach was undertaken using Pettigrew’s lens of change and transformations, including context, process, and content. Through a series of workshops, observations, interviews, and document analysis, as well as a review of scientific literature, a comprehensive design of evaluation was created. Findings: The findings indicate that in order to get evidence on clinical outcomes, eHealth interventions should last longer than one year. The content of the comprehensive evaluation design includes a collection of qualitative and quantitative methods for data gathering which illuminates non-medical aspects. Furthermore, it contains communication arrangements to discuss the results and continuously improve the evaluation design, as well as procedures for monitoring and improving the data collection during the intervention. The process of the comprehensive evaluation design consists of four stages: (1) analysis of a current state in different contexts, including measurement systems, expectations and profiles of stakeholders, organizational ambitions to change due to eHealth integration, and the organizational capacity to collect data for evaluation; (2) workshop with project partners to discuss the as-is situation in relation to the project goals; (3) development of general and customized sets of relevant performance measures, questionnaires and interview questions; (4) setting up procedures and monitoring systems for the interventions. Lastly, strategies are presented on how challenges can be handled during the design process of evaluation in four different countries. The evaluation design needs to consider contextual factors such as project limitations, and differences between pilot sites in terms of eHealth solutions, patient groups, care models, national and organizational cultures and settings. This implies a need for the flexible approach to evaluation design to enable judgment over the effectiveness and potential for adoption and transferability of eHealth. In summary, this paper provides learning opportunities for future evaluation designs of eHealth interventions in different national and organizational settings.

Keywords: ehealth, elderly, evaluation, intervention, multi-cultural

Procedia PDF Downloads 324

Authors: Amit Syal, Madeline Grade, Alister Martin

Abstract:

Background: Cross-sectional and longitudinal studies demonstrate an association between health and voting. Furthermore, voting enables populations to support policies that impact their health via social determinants like income, education, housing, and healthcare access. Unfortunately, many barriers exist which disproportionately affect the civic participation of certain minority groups. Health professionals have an important role to play in addressing the civic health of all patients and empowering underrepresented communities. Description: Vot-ER is a non-partisan, nonprofit organization that aims to reduce barriers to civic participation by helping patients register to vote while in healthcare settings. The initial approach involved iPad-based kiosks in the emergency department waiting rooms, allowing patients to register themselves while waiting. After the COVID-19 pandemic began, Vot-ER expanded its touchless digital approaches. Vot-ER provides healthcare workers across the country with “Healthy Democracy Kits” consisting of badge backers, posters, discharge paperwork, and other resources. These contain QR and text codes that direct users to an online platform for registering to vote or requesting a mail-in ballot, available in English or Spanish. Outcomes: From May to November 2020, Vot-ER helped prepare 46,320 people to vote. 13,192 individual healthcare providers across all 50 states signed up for and received Healthy Democracy Kits. 80 medical schools participated in the Healthy Democracy Campaign competition. Over 500 institutions ordered site-based materials. Conclusions: A healthy democracy is one in which all individuals in a community have equal and fair opportunities for their voices to be heard. Healthcare settings, such as hospitals, are appropriate and effective venues for increasing both voter registration and education.

Keywords: civic health, enfranchisement, physician, voting

Procedia PDF Downloads 182

Authors: Ebere Ellison Obisike, Justina N. Adalikwu-Obisike

Abstract:

Artificial intelligence (AI) is progressively transforming health and social care. With the rapid invention of various electronic devices, machine learning, and computing systems, the use of AI istraversing many health and social care practices. In this systematic review of journal and grey literature, this study explores how the applications of AI might promote the prevention of micro and macrovascular complications in type 1 diabetic patients. This review focuses on the use of a digitized blood glucose meter and the application of insulin pumps for the effective management of type 1 diabetes in low and middle-income countries. It is projected that the applications of AI may assist individuals with type 1 diabetes to monitor and control their blood glucose level and prevent the early onset of micro and macrovascular complications.

Keywords: artificial intelligence, blood glucose meter, insulin pump, low and middle-income countries, micro and macrovascular complications, type 1 diabetes

Procedia PDF Downloads 197

Authors: Dariusz M. Trzmielak, William Bradley Zehner, Elin Oftedal, Ilona Lipka-Matusiak

Abstract:

The use of new technologies should create new value for all stakeholders in the healthcare system. The article focuses on demonstrating that technologies or products typically enable new functionality, a higher standard of service, or a higher level of knowledge and competence for clinicians. It also highlights the key benefits that can be achieved through the use of artificial intelligence, such as relieving clinicians of many tasks and enabling the expansion and greater specialisation of healthcare services. The comparative analysis allowed the authors to create a classification of new technologies in e-health according to health needs and benefits for patients, doctors, and healthcare systems, i.e., the main stakeholders in the implementation of new technologies and products in healthcare. The added value of the development of new technologies in healthcare is diagnosed. The work is both theoretical and practical in nature. The primary research methods are bibliographic analysis and analysis of research data and market potential of new solutions for healthcare organisations. The bibliographic analysis is complemented by the author's case studies of implemented technologies, mostly based on artificial intelligence or telemedicine. In the past, patients were often passive recipients, the end point of the service delivery system, rather than stakeholders in the system. One of the dangers of powerful new technologies is that patients may become even more marginalised. Healthcare will be provided and delivered in an increasingly administrative, programmed way. The doctor may also become a robot, carrying out programmed activities - using 'non-human services'. An alternative approach is to put the patient at the centre, using technologies, products, and services that allow them to design and control technologies based on their own needs. An important contribution to the discussion is to open up the different dimensions of the user (carer and patient) and to make them aware of healthcare units implementing new technologies. The authors of this article outline the importance of three types of patients in the successful implementation of new medical solutions. The impact of implemented technologies is analysed based on: 1) "Informed users", who are able to use the technology based on a better understanding of it; 2) "Engaged users" who play an active role in the broader healthcare system as a result of the technology; 3) "Innovative users" who bring their own ideas to the table based on a deeper understanding of healthcare issues. The authors' research hypothesis is that the distinction between informed, engaged, and innovative users has an impact on the perceived and actual quality of healthcare services. The analysis is based on case studies of new solutions implemented in different medical centres. In addition, based on the observations of the Polish author, who is a manager at the largest medical research institute in Poland, with analytical input from American and Norwegian partners, the added value of the implementations for patients, clinicians, and the healthcare system will be demonstrated.

Keywords: innovation, management, medicine, e-health, artificial intelligence

Procedia PDF Downloads 22

Authors: Rashini Maduka, C. R. Wijesinghe, A. R. Weerasinghe

Abstract:

Drug-drug interactions (DDIs) can happen when two or more drugs are taken together. Today DDIs have become a serious health issue due to adverse drug effects. In vivo and in vitro methods for identifying DDIs are time-consuming and costly. Therefore, in-silico-based approaches are preferred in DDI identification. Most machine learning models for DDI prediction are used chemical and biological drug properties as features. However, some drug features are not available and costly to extract. Therefore, it is better to make automatic feature engineering. Furthermore, people who have diabetes already suffer from other diseases and take more than one medicine together. Then adverse drug effects may happen to diabetic patients and cause unpleasant reactions in the body. In this study, we present a model with a graph convolutional autoencoder and a graph decoder using a dataset from DrugBank version 5.1.3. The main objective of the model is to identify unknown interactions between antidiabetic drugs and the drugs taken by diabetic patients for other diseases. We considered automatic feature engineering and used Known DDIs only as the input for the model. Our model has achieved 0.86 in AUC and 0.86 in AP.

Keywords: drug-drug interaction prediction, graph embedding, graph convolutional networks, adverse drug effects

Procedia PDF Downloads 100

Authors: Tahra AlMahmoud, Sameeha Mohamed Al Hadhrami, Mohamed Elhanan, Hanan Naser Alshamsi, Fikri Abu-Zidan

Abstract:

Background: To the best of the author(s)’ knowledge there are no epidemiological studies for traumatic eye injuries in UAE, neither data on groups at risk or mechanisms for ocular trauma. Purpose: To report the epidemiology of eye injuries that required hospital admission and surgery at a referral center at the eastern part of Abu Dhabi. Method: Retrospective charts review of all patients who had suffered an eye injury that required surgical intervention between 2012 and 2017 at Al Ain Hospital. Demographic data, place of occurrence, the cause of injury, visual acuity (VA) before and after treatment, number of admission days and follow up were extracted. Data were tabulated and presented as number (%), mean (SD), or median (range) as appropriate. Wilcoxon signed rank test was used for VA outcome. Results: One hundred forty-one patients were identified, 96 eyes with open-globe and 48 other types of injuries. The mean age of the patients was 26±15.5 years, and 89% were male. Majority of injuries occurred at the workplace (50.4%) followed by home (31.2%). Trauma with a sharp object (24.1%), blunt object (16.3%), nail (11.3%), and hammer on metal (7.8%) were the most common etiologies of injury. Corneas injuries (48.2%) was the most frequent cause for visual acuity limitation followed by lens/cataract (23.4%). Among the traumatized eyes, 30 eyes (21.3%) retained intraocular foreign body, Mean admission days was 3.16± 2.81days (1-16) and a number of follow up visit was 3.17± 4.11times (0-26). Conclusion: Ocular trauma requiring surgical intervention is an area of concern in particular for occupations involving work with metals. This work may give insight into the value and necessity of implementing preventive measures.

Keywords: epidemiology, Middle Eastern area, occupational injury, ocular traumas

Procedia PDF Downloads 132

Authors: Sharon Jackson White

Abstract:

Purpose: Nurse practitioners (NPs) practicing within hospital medicine play a significant role in caring for patients who might benefit from palliative care (PC) services. Using the Theory of Planned Behavior, the purpose of this study was to examine the relationships among facilitators to referral, barriers to referral, self-efficacy with end-of-life discussions, history of referral, and referring to PC among NPs in hospital medicine. Hypotheses: 1) Perceived facilitators to referral will be associated with a higher history of referral and a higher number of referrals to PC. 2) Perceived barriers to referral will be associated with a lower history of referral and a lower number of referrals to PC. 3) Increased self-efficacy with end-of-life discussions will be associated with a higher history of referral and a higher number of referrals to PC. 4) Perceived facilitators to referral, perceived barriers to referral, and self–efficacy with end-of-life discussions will contribute to a significant variance in the history of referral to PC. 5) Perceived facilitators to referral, perceived barriers to referral, and self–efficacy with end-of-life discussions will contribute to a significant variance in the number of referrals to PC. Significance: Previous studies of referring patients to PC within the hospital setting care have focused on physician practices. Identifying factors that influence NPs referring hospitalized patients to PC is essential to ensure that patients have access to these important services. This study incorporates the SNRS mission of advancing nursing research through the dissemination of research findings and the promotion of nursing science. Methods: A cross-sectional, predictive correlational study was conducted. History of referral to PC, facilitators to referring to PC, barriers to referring to PC, self-efficacy in end-of-life discussions, and referral to PC were measured using the PC referral case study survey, facilitators and barriers to PC referral survey, and self-assessment with end-of-life discussions survey. Data were analyzed descriptively and with Pearson’s Correlation, Spearman’s Rho, point-biserial correlation, multiple regression, logistic regression, Chi-Square test, and the Mann-Whitney U test. Results: Only one facilitator (PC team being helpful with establishing goals of care) was significantly associated with referral to PC. Three variables were statistically significant in relation to the history of referring to PC: “Inclined to refer: PC can help decrease the length of stay in hospital”, “Most inclined to refer: Patients with serious illnesses and/or poor prognoses”, and “Giving bad news to a patient or family member”. No predictor variables contributed a significant variance in the number of referrals to PC for all three case studies. There were no statistically significant results showing a relationship between the history of referral and referral to PC. All five hypotheses were partially supported. Discussion: Findings from this study emphasize the need for further research on NPs who work in hospital settings and what factors influence their behaviors of referring to PC. Since there is an increase in NPs practicing within hospital settings, future studies should use a larger sample size and incorporate hospital medicine NPs and other types of NPs that work in hospitals.

Keywords: palliative care, nurse practitioners, hospital medicine, referral

Procedia PDF Downloads 73

Authors: Rezvan Hosseinian

Abstract:

Aim: Systemic sclerosis (SSc) is a chronic connective tissue disease with the clinical hallmark of skin thickening and tethering. The correlation of musculoskeletal features with other parameters should be considered in SSc patients. Methods: We reviewed the records of all patients who had more than one visit and standard anteroposterior radiography of hand. We used univariate analysis, and factors with p<0.05 were included in logistic regression to find out dependent factors. Results: Overall, 180 SSc patients were enrolled in our study, 161 (89.4%) of whom were women. The median age (IQR) was 47.0 years (16), and 52% had a diffuse subtype of the disease. In multivariate analysis, tendon friction rubs (TFRs) were associated with the presence of calcinosis, muscle tenderness, and flexion contracture (FC) on physical examination (p<0.05). Arthritis showed no differences in the two subtypes of the disease (p=0.98), and in multivariate analysis, there were no correlations between radiographic arthritis and serological and clinical features. The radiographic results indicated that disease duration correlated with joint erosion, acro-osteolysis, resorption of the distal ulna, calcinosis and radiologic FC (p< 0.05). Acro-osteolysis was more frequent in the dcSSc subtype, TFRs, and anti-TOPO I antibody. Radiologic FC showed an association with skin score, calcinosis and haematocrit <30% (p<0.05). Joint flexion on radiography was associated with disease duration, modified Rodnan skin score, calcinosis, and low hematocrit (P<0.01). Conclusion: Disease duration was a main dependent factor for developing joint erosion, acro-osteolysis, bone resorption, calcinosis, and flexion contracture on hand radiography. Acro-osteolysis presented in the severe form of the disease. Acro-osteolysis was the only dependent variable associated with bone demineralization.

Keywords: disease subsets, hand radiography, joint erosion, sclerosis

Procedia PDF Downloads 93

Authors: Nasrin Azarbani

Abstract:

Aim: Systemic sclerosis (SSc) is a chronic connective tissue disease with the clinical hallmark of skin thickening and tethering. Correlation of musculoskeletal features with other parameters should be considered in SSc patients. Methods: We reviewed the records of all patients who had more than one visit and standard anteroposterior radiography of hand. We used univariate analysis, and factors with p<0.05 were included in logistic regression to find out dependent factors. Results: Overall, 180 SSc patients were enrolled in our study, 161 (89.4%) of whom were women. Median age (IQR) was 47.0 years (16), and 52% had diffuse subtype of the disease. In multivariate analysis, tendon friction rubs (TFRs) was associated with the presence of calcinosis, muscle tenderness, and flexion contracture (FC) on physical examination (p<0.05). Arthritis showed no differences in the two subtypes of the disease (p=0.98), and in multivariate analysis, there were no correlations between radiographic arthritis and serological and clinical features. The radiographic results indicated that disease duration correlated with joint erosion, acro-osteolysis, resorption of distal ulna, calcinosis and radiologic FC (p< 0.05). Acro-osteolysis was more frequent in the dcSSc subtype, TFRs, and anti-TOPO I antibody. Radiologic FC showed an association with skin score, calcinosis and haematocrit <30% (p<0.05). Joint flexion on radiography was associated with disease duration, modified Rodnan skin score, calcinosis, and low haematocrit (P<0.01). Conclusion: Disease duration was a main dependent factor for developing joint erosion, acro-osteolysis, bone resorption, calcinosis, and flexion contracture on hand radiography. Acro-osteolysis presented in the severe form of the disease. Acro-osteolysis was the only dependent variable associated with bone demineralization.

Keywords: sclerosis, disease subsets, joint erosion, musculoskeletal

Procedia PDF Downloads 67

Authors: Liudmila Garzanova, Lidia Ananyeva, Olga Koneva, Olga Ovsyannikova, Oxana Desinova, Mayya Starovoytova, Rushana Shayahmetova, Anna Khelkovskaya-Sergeeva

Abstract:

Objectives: The duration of the disease could be one of the leading factors in the effectiveness of therapy in systemic sclerosis (SSc). The aim of the study was to assess how the duration of the disease affects the changes of lung function in patients(pts) with interstitial lung disease (ILD) associated with SSc during long-term RTX therapy. Methods: We prospectively included 113pts with SSc in this study. 85% of pts were female. Mean age was 48.1±13years. The diffuse cutaneous subset of the disease had 62pts, limited–40, overlap–11. The mean disease duration was 6.1±5.4years. Pts were divided into 2 groups depending on the disease duration - group 1 (less than 5 years-63pts) and group 2 (more than 5 years-50 pts). All pts received prednisolone at mean dose of 11.5±4.6 mg/day and 53 of them - immunosuppressants at inclusion. The parameters were evaluated over the periods: at baseline (point 0), 13±2.3mo (point 1), 42±14mo (point 2) and 79±6.5mo (point 3) after initiation of RTX therapy. Cumulative mean dose of RTX in group 1 at point 1 was 1.7±0.6 g, at point 2 = 3.3±1.5g, at point 3 = 3.9±2.3g; in group 2 at point 1 = 1.6±0.6g, at point 2 = 2.7±1.5 g, at point 3 = 3.7±2.6 g. The results are presented in the form of mean values, delta(Δ), median(me), upper and lower quartile. Results. There was a significant increase of forced vital capacity % predicted (FVC) in both groups, but at points 1 and 2 the improvement was more significant in group 1. In group 2, an improvement of FVC was noted with a longer follow-up. Diffusion capacity for carbon monoxide % predicted (DLCO) remained stable at point 1, and then significantly improved by the 3rd year of RTX therapy in both groups. In group 1 at point 1: ΔFVC was 4.7 (me=4; [-1.8;12.3])%, ΔDLCO = -1.2 (me=-0.3; [-5.3;3.6])%, at point 2: ΔFVC = 9.4 (me=7.1; [1;16])%, ΔDLCO =3.7 (me=4.6; [-4.8;10])%, at point 3: ΔFVC = 13 (me=13.4; [2.3;25.8])%, ΔDLCO = 2.3 (me=1.6; [-5.6;11.5])%. In group 2 at point 1: ΔFVC = 3.4 (me=2.3; [-0.8;7.9])%, ΔDLCO = 1.5 (me=1.5; [-1.9;4.9])%; at point 2: ΔFVC = 7.6 (me=8.2; [0;12.6])%, ΔDLCO = 3.5 (me=0.7; [-1.6;10.7]) %; at point 3: ΔFVC = 13.2 (me=10.4; [2.8;15.4])%, ΔDLCO = 3.6 (me=1.7; [-2.4;9.2])%. Conclusion: Patients with an early SSc have more quick response to RTX therapy already in 1 year of follow-up. Patients with a disease duration more than 5 years also have response to therapy, but with longer treatment. RTX is effective option for the treatment of ILD-SSc, regardless of the duration of the disease.

Keywords: interstitial lung disease, systemic sclerosis, rituximab, disease duration

Procedia PDF Downloads 25

Authors: Inam Ridha, Christine L. Kuryla, Madhuranga Thilakasiri Madugoda Ralalage Don, Norman J. Kleiman, Yunro Chung, Jin Park, Vel Murugan, Joshua LaBaer

Abstract:

To date, more than 275 million people worldwide have been diagnosed with COVID-19 and the rapid spread of the omicron variant suggests many millions more will soon become infected. Many infections are asymptomatic, while others result in mild to moderate illness. Unfortunately, some infected individuals exhibit more serious symptoms including respiratory distress, thrombosis, cardiovascular disease, multi-organ failure, cognitive difficulties, and, in roughly 2% of cases, death. Studies indicate other coronaviruses can alter the host cell's epigenetic profile and lead to alterations in the immune response. To better understand the mechanism(s) by which SARS-CoV-2 infection causes serious illness, DNA methylation profiles in peripheral blood mononuclear cells (PBMCs) from 90 hospitalized severely ill COVID-19 patients were compared to profiles from uninfected control subjects. Exploratory epigenome-wide DNA methylation analyses were performed using multiplexed methylated DNA immunoprecipitation (MeDIP) followed by pathway enrichment analysis. The findings demonstrated significant DNA methylation changes in infected individuals as compared to uninfected controls. Pathway analysis indicated that apoptosis, cell cycle control, Toll-like receptors (TLR), cytokine interactions, and T cell differentiation were among the most affected metabolic processes. In addition, changes in specific gene methylation were compared to SARS-CoV-2 induced changes in RNA expression using published RNA-seq data from 3 patients with severe COVID-19. These findings demonstrate significant correlations between differentially methylated and differentially expressed genes in a number of critical pathways.

Keywords: COVID19, epigenetics, DNA mathylation, viral infection

Procedia PDF Downloads 181

Authors: H. A. Algahtani, A. S. Khan, O. Alzahrani, N. Hussein, M. A. Khan, Loudhi Y. I. Soliman

Abstract:

Objective: To report on the Saudi experience (developing country) of neurological complications from bariatric surgery. The literature on the subject is reviewed. Method: This is a cross sectional study done in King Abdul Aziz Medical City Jeddah, WR, where we reviewed all charts of the patients who underwent bariatric surgery between January 1st, 2009 to December 31st , 2014. Personal and clinical data including age, sex, BMI, comorbidities, type of procedure, duration of stay in hospital, complications and postoperative follow up were collected. In addition follow up visit and remote complication if present were collected. All patients with neurological complications were reviewed in details including their clinical examination, laboratory and imaging results, treatment and prognosis. This report is essentially descriptive with no statistical analysis performed. Results: Fifteen cases were collected in this study (3%). Axonal polyneuropathy was the most frequent neurological complica¬tion, but cases of Wernicke syndrome, vitamin B12 deficiency, Guillain-Barre syndrome and cupper deficiency were also identified. Fourteen patients (93.3%) had full recovery from the neurological signs and symptoms but unfortunately one patient died. Conclusion: Bariatric surgery, a procedure that is continuously increasing in popularity, is not free of potential neurological complications. A clear education, guidelines and follow-up program should be planned and practiced. Facts should be clearly presented to the individual undergoing this type of surgery. Although a clear cause-effect relation cannot be established for the present cases, the cumulative literature on the subject makes it important to warn the patient of the potential risks of this procedure.

Keywords: bariatric surgery, neurological complications, neuropathy, Wenicke syndrome

Procedia PDF Downloads 329

Authors: T. Mcgraw, F. N. Morin, N. Desai

Abstract:

Background: Antimicrobial resistance is a critical issue in global health care and a significant contributor to increased patient morbidity and mortality. Suspected urinary tract infection (UTI) is a key area of inappropriate antibiotic prescription in pediatrics. Management patterns of infectious diseases have been shown to vary by provider type within a single setting. The aim of this study was to assess compliance with national UTI management guidelines by nurse practitioners in a pediatric emergency department (ED). Methods: This was a post-hoc analysis of a retrospective cohort study to review and evaluate visits to a tertiary care freestanding pediatric emergency department. Patients were included if they were 60 days to 36 months old and discharged with a diagnosis of UTI or ‘rule-out UTI’ between July 2015 and July 2020. Primary outcome measure was proportion of visits seen by Nurse Practitioners (NP) which were associated with national guideline compliance in the diagnosis and treatment of suspected UTI. We performed descriptive statistics and comparative analyses to determine differences in practice patterns between NPs, and physicians. Results: A total of 636 charts were reviewed, of which 402 patients met inclusion criteria. 17 patients were treated by NPs, 385 were treated by either Pediatric Emergency Medicine physicians (PEM) or non-PEM physicians. Overall, the proportion of infants receiving guideline-compliant care was 25.9% (21.8-30.4%). Of those who were prescribed antibiotics, 79.6% (74.7-83.8%) received first line guideline recommended therapy and 58.9% (53.8-63.8%) received fully compliant therapy with respect to age, dose, duration, and frequency. In patients treated by NPs, 16/17 (94%(95% CI:73.0-99.0)) required antibiotics, 15/16 (93%(95% CI: 71.7-98.9)) were treated with first line agent (cephalexin), 8/16 (50%(95% CI:28-72)) were guideline compliant of dose and duration. 5/8 (63%(95% CI:30.6-86.3)) were noncompliant for dose being too high. There was no difference in receiving guideline compliant empiric antibiotic therapy between physicians and nurse practitioners (OR: 0.837 CI: 0.302-2.69). Conclusion: In this post-hoc analysis, guideline noncompliance by nurse practitioners is common in children tested and treated for UTIs in a pediatric emergency department. Care by a Nurse Practitioner was not associated with greater rate of noncompliance than care by a Pediatric Emergency Medicine physician. Future appropriately powered studies may focus on confirming these results.

Keywords: antibiotic stewardship, infectious disease, nurse practitioner, urinary tract infection

Procedia PDF Downloads 104

Authors: Christine Y. Yeh, Brian D. Piening, Sarah M. Totten, Kimberly Kukurba, Wenyu Zhou, Kevin P. F. Contrepois, Gucci J. Gu, Sharon Pitteri, Michael Snyder

Abstract:

Three million deaths worldwide are attributed to obesity. However, the biomolecular mechanisms that describe the link between adiposity and subsequent disease states are poorly understood. Insulin resistance characterizes approximately half of obese individuals and is a major cause of obesity-mediated diseases such as Type II diabetes, hypertension and other cardiovascular diseases. This study makes use of longitudinal quantitative and high-throughput multi-omics (genomics, epigenomics, transcriptomics, glycoproteomics etc.) methodologies on blood samples to develop multigenic and multi-analyte signatures associated with weight gain and insulin resistance. Participants of this study underwent a 30-day period of weight gain via excessive caloric intake followed by a 60-day period of restricted dieting and return to baseline weight. Blood samples were taken at three different time points per patient: baseline, peak-weight and post weight loss. Patients were characterized as either insulin resistant (IR) or insulin sensitive (IS) before having their samples processed via longitudinal multi-omic technologies. This comparative study revealed a wealth of biomolecular changes associated with weight gain after using methods in machine learning, clustering, network analysis etc. Pathways of interest included those involved in lipid remodeling, acute inflammatory response and glucose metabolism. Some of these biomolecules returned to baseline levels as the patient returned to normal weight whilst some remained elevated. IR patients exhibited key differences in inflammatory response regulation in comparison to IS patients at all time points. These signatures suggest differential metabolism and inflammatory pathways between IR and IS patients. Biomolecular differences associated with weight gain and insulin resistance were identified on various levels: in gene expression, epigenetic change, transcriptional regulation and glycosylation. This study was not only able to contribute to new biology that could be of use in preventing or predicting obesity-mediated diseases, but also matured novel biomedical informatics technologies to produce and process data on many comprehensive omics levels.

Keywords: insulin resistance, multi-omics, next generation sequencing, proteogenomics, type ii diabetes

Procedia PDF Downloads 429

Authors: Lai Gwen Chan, Yining Ong, Audrey Yoke Poh Wong

Abstract:

Background. The efficacy of electroconvulsive therapy (ECT) as a form of treatment to a range of mental disorders is well-established. However, ECT is often associated with either temporary or persistent cognitive side-effects, resulting in the failure of wider prescription. Of which, retrograde amnesia is the most commonly reported cognitive side-effect. Most studies found a recalling deficit in autobiographical memories to be short-term, although a few have reported more persistent amnesic effects. Little is known about ECT-related amnesic effects in Asian population. Hence, this study aims to resolve conflicting findings, as well as to better elucidate the effects of ECT on cognitive functioning in a local sample. Method: 12 patients underwent bilateral ECT under the care of Psychological Medicine Department, Tan Tock Seng Hospital, Singapore. Participants’ cognition and level of functioning were assessed at four time-points: before ECT, between the third and fourth induced seizure, at the end of the whole course of ECT, and two months after the index course of ECT. Results: It was found that Global Assessment of Functioning scores increased significantly at the completion of ECT. Case-by-case analyses also revealed an overall improvement in Personal Semantic and Autobiographical memory two months after the index course of ECT. A transient dip in both personal semantic and autobiographical memory scores was observed in one participant between the third and fourth induced seizure, but subsequently resolved and showed better performance than at baseline. Conclusions: The findings of this study suggest that ECT is an effective form of treatment to alleviate the severity of symptoms of the diagnosis. ECT does not affect attention, language, executive functioning, personal semantic and autobiographical memory adversely. The findings suggest that Asian patients may respond to bilateral ECT differently from Western samples.

Keywords: electroconvulsive therapy (ECT), autobiographical memory, cognitive impairment, psychiatric disorder

Procedia PDF Downloads 193

Authors: Sina Mahdavi

Abstract:

Background and Objective: Multiple sclerosis (MS) is an inflammatory autoimmune disease of the CNS that affects the myelination process in the central nervous system (CNS). Complex interactions of various "environmental or infectious" factors may act as triggers in autoimmunity and disease progression. The association between viral infections, especially human endogenous retrovirus (HERV) and MS is one potential cause that is not well understood. This study aims to summarize the available data on HERV infection in MS disease progression. Materials and Methods: For this study, the keywords "Multiple sclerosis", "Human endogenous retrovirus", and "central nervous system" in the databases PubMed, Google Scholar, Sid, and MagIran between 2016 and 2022 were searched and 14 articles chosen, studied, and analyzed. Results: In the leptomeningeal cells of MS patients, a retrovirus-like element associated with reverse transcriptase (RT) activity called multiple sclerosis-associated retroviruses (MSRV) has been identified. HERVs are expressed in the human CNS despite mechanisms to suppress their expression. External factors, especially viral infections such as influenza virus, Epstein-Barr virus, and herpes simplex virus type 1, can activate HERV gene expression. The MSRV coat protein is activated by activating TLR4 at the brain surface, particularly in oligodendroglial progenitor cells and macrophages, leading to immune cascades followed by the downregulation of myelin protein expression. The HERV-K18 envelope gene (env) acts as a superantigen and induces inflammatory responses in patients with MS. Conclusion: There is a high expression of endogenous retroviruses during the course of MS, which indicates the relationship between HERV and MS, that this virus can play a role in the development of MS by creating an inflammatory state. Therefore, measures to modulate the expression of endogenous retroviruses may be effective in reducing inflammatory processes in demyelinated areas of MS patients.

Keywords: multiple sclerosis, human endogenous retrovirus, central nervous system, MSRV

Procedia PDF Downloads 72

Authors: Aulanni’am Aulanni’am

Abstract:

Incidence of Diabetes Mellitus (DM) progressively increasing it became a serious problem in Indonesia and it is a disease that government is priority to be addressed. The longer a person is suffering from diabetes the more likely to develop complications particularly diabetic patients who are not well maintained. Therefore, Incidence of Diabetes Mellitus needs to be done in the early diagnosis of pre-phase of the disease. In this pre-phase disease, already happening destruction of pancreatic beta cells and declining in beta cell function and the sign autoimmunity reactions associated with beta cell destruction. Type 1 DM is a multifactorial disease triggered by genetic and environmental factors, which leads to the destruction of pancreatic beta cells. Early marker of "beta cell autoreactivity" is the synthesis of autoantibodies against 65-kDa protein, which can be a molecule that can be detected early in the disease pathomechanism. The importance of early diagnosis of diabetic patients held in the phase of pre-disease is to determine the progression towards the onset of pancreatic beta cell destruction and take precautions. However, the price for this examination is very expensive ($ 150/ test), the anti-GAD65 abs examination cannot be carried out routinely in most or even in all laboratories in Indonesia. Therefore, production-based Rapid Test Recombinant Human Protein GAD65 with "Reverse Flow Immunchromatography Technique" in Indonesia is believed to reduce costs and improve the quality of care of patients with diabetes in Indonesia. Rapid Test Product innovation is very simple and suitable for screening and routine inspection of GAD65 autoantibodies. In the blood serum of patients with diabetes caused by autoimmunity, autoantibody-GAD65 is a major serologic marker to detect autoimmune reaction because their concentration level of stability.GAD65 autoantibodies can be found 10 years before clinical symptoms of diabetes. Early diagnosis is more focused to detect the presence autontibodi-GAD65 given specification and high sensitivity. Autoantibodies- GAD65 that circulates in the blood is a major indicator of the destruction of the islet cells of the pancreas. Results of research in collaboration with Biofarma has produced GAD65 autoantibodies based Rapid Test had conducted the soft launch of products and has been tested with the results of a sensitivity of 100 percent and a specificity between 90 and 96% compared with the gold standard (import product) which worked based on ELISA method.

Keywords: diabetes mellitus, GAD65 autoantibodies, rapid test, sensitivity, specificity

Procedia PDF Downloads 268

Authors: Silpita Paul, Susanta Sadhukhan, Biswanath Maity, Madhusudan Das

Abstract:

Neural tube defects (NTDs) are one of the most common forms of birth defect and affect ~300,000 new born worldwide each year. The prevalence is higher in Northern India (11 per 1000 birth) compare to southern India (5 per 1000 birth). NTDs are one of the common birth defects related with low blood folate and Hcy concentration. Though the mechanism is still unknown, but it is now established that, NTDs in human are polygenic in nature and follow the heterogeneous trait. In spite of its heterogeneity, polymorphism in few genes affects significantly the trait of NTDs. Polymorphisms in the genes FOLH1 and MTHFR plays important role in NTDs. In this study, the polymorphisms of these genes were screened by bi-directional sequencing from 30 mothers with NTD babies as case. The result revealed that 26.67% patients had bi-allelic FOLH1 polymorphism. The polymorphism has been identified as p.Y60H and frequent to cause NTDs. The study of MTHFR gene showed 2 different SNPs rs1801131 (at exon 4) and rs1801131 (at exon 7). The study showed 6.67% patients of both mono- and bi-allelic MTHFR-rs1801131 polymorphism and 6.67% patients of bi-allelic MTHFR-rs1801131 polymorphism. These polymorphisms has been responsible for p.A222V and p.E429A change respectively and frequently involved in NTD formation. Those polymorphisms affect mainly the absorption of dietary folate from intestine and the formation of 5-methylenetetrahydrofolate (5 MTHF) from 5,10-methylenetetrahydrofolate (5,10- MTHF), which is the functional folate form in our system. Though the study is not complete yet, but these polymorphisms play crucial roles in the formation of NTDs in other world population. Based on the result till date, it can be concluded that they also play significant role in our population too as in control samples we have not found any changes.

Keywords: neural tube defects, polymorphism, FOLH1, MTHFR

Procedia PDF Downloads 303